Cure Infertility

Pregnancy Miracle by Lisa Olson

Pregnancy Miracle written by Lisa Olson is a fertility guide (that has been proven to work). The content of this guide talks about how to overcome infertility without using surgery, drugs or potions. With subscribing to the program you get unlimited access to all resources and all available material online. The program has been proven to work for women in more than 127 countries worldwide. Lisa explains that ancient Chinese cultures knew that women must not let stress overcome them, or it could tense up the abdomen and restrict the reproductive organs. This section covers some good old Chinese mountain wisdom, as she calls it, to teach you the exact acupressure techniques and Qi Gong exercises to relax your muscles and calm your body. It is Continually Updated, Lisa learn new things every single day from continued research, testing and experimentation. She also get a lot of ideas as to how she can improve Pregnancy Miracle from the women that she counsel. She is therefore constantly in the process of refining and perfecting Pregnancy Miracle. More here...

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How useful is a semen assessment for the diagnosis and prognosis of male infertility

The value of traditional semen parameters (concentration, motility and morphology) in the diagnosis and prognosis of male infertility has been debated for almost 60 years and, perhaps not surprisingly, the debate continues (see Bj rndahl et al., 2005). There are many difficulties in the design of studies to assess the value of traditional semen parameters, for example number of semen samples to assess, relevance of different outcomes (in vitro fertilisation (IVF) versus in vivo conception) etc., but one of the most significant variables is the degree of quality control (QC) measures in place to ensure the assessment is valid. The majority of studies that have concluded that traditional semen parameters have limited or no value in the diagnosis prognosis of male infertility do not provide any (or very limited) information on QC procedures and thus it is difficult to determine the relevance of their Traditional semen analysis will therefore only be a limited first line tool in the...

Mouse models for male infertility the role of knockout mice

Mouse models with an infertility phenotype are being published with increased frequency. These numbered over 200 in 2002 and are described in a excellent comprehensive review by Matzuk and Lamb (2002). Genotypes affecting fertility are also being reported in on-line databases, for example see The Jackson Laboratories Reproductive Genomics Mutant Mouse Models of Infertility (http reprogenomics. ) or http

Whats the future for the diagnosis of sperm dysfunction and male infertility

There are three platforms for progress. Firstly, a comprehensive high quality semen assessment is the cornerstone of male infertility assessment and all efforts should be made to improve standards of semen assessments. Secondly, global co-ordinated gene expression and proteomic studies are timely and now required. The information gained from such projects will be overwhelming and it is essential that integrated web-based programmes continue to evolve to assist the researcher in understanding the broader context of their findings. Thirdly, rapid developments in chip (microarray and proteomic) based diagnostics will be made but their use must be rigorously tested in the clinical environment. Male infertility has suffered too long from trials of new diagnostics that have little or no power to answer the question. In conclusion, the diagnosis and treatment of male infertility is at a very exciting stage. The prophesied molecular revolution (see Cram and De Kretser, 2002) has now arrived...

Reproductive Endocrinology and Infertility

The endocrine system, which is responsible for releasing hormones that modulate the development of the ovum, is one of the most intricate and complex regulatory systems. For the specialist in reproductive endocrinology and infertility (REI), establishing a pregnancy for couples suffering from infertility is extremely rewarding. Their practice also extends to the treatment of hormonal and reproductive disorders affecting women, children, men, and mature women. Reproductive endocrinologists gain special competence in advanced microsurgical procedures, such as reversal of tubal ligation, treatment with fertility drugs, and methods of assisted reproduction (in vitro fertilization and insemination). With vast knowledge and expertise on the physiology of reproduction, REI specialists medically and surgically treat a variety of complex hormonal disorders, such as infertility, endometriosis, recurrent pregnancy loss, menopause, and ovulatory dysfunction.

Mutations in Y chromosome genes that cause infertility

Although a handful of individual genes have been mapped to the AZF regions on Yq, very few reports define precise mutations within a gene that are associated with male infertility. The best example is a de novo point mutation described in an azoospermic male that included four base pairs in the Yq gene USPY in the AZFa region (Sun et al., 1999). Another patient was found to have a deletion in the DEAD box Y (DBY) gene in the AZFa region, but the effect of the deletion on gene function was not fully analyzed (Foresta et al., 2000).

Structural abnormalities of the X chromosome associated with male infertility

Although its role as a sex-determining chromosome is well recognized, an early suggestion that the X chromosome may harbor genes controlling male fertility arose from case reports of X chromosome translocations, partial deletions and inversions that resulted in severe infertility and azoospermia (Cantu et al., 1985 Lee et al., 2003 Madan, 1983 Mark et al., 1999 Mattei et al., 1982 Nameth et al., 2002) (Table 10.2). Infertility from structural abnormalities has been postulated to occur through direct interruption of a gene at breakpoint regions or as a consequence of'position effect,' in which an uninterrupted gene does not function normally because of its changed chromosomal environment, but not necessarily due to disruption of the X-inactivation gene on Xq13 (Nemeth et al., 2002). As a consequence, the X chromosome garnered suspicion as an important chromosome for the determination of male as well as female fertility.

Clinical studies of human Xlinked genes and infertility

Few studies have examined mutations in X-linked genes in male infertility patients (Table 10.4). In a study of 56 infertile men with low or no sperm counts, Raverot et al. observed mutations in the SOX3 gene (sex-determining region Y box 3) (Raverot et al., 2004). The mouse homolog of this gene is found in the developing gonad and brain and, when disrupted, causes hypogonadism with loss of germ cells. Mutations in the human fetal and adult testis-expressed (FATE) gene (Xp28) have also been studied in infertile men (Olesen et al., 2003). This gene encodes a polypeptide of 21kDa that is not related to any known proteins. The FATE message is testis specific in fetal life soon after sex-determination and is co-expressed with SRY in the 7-week-old testis. Among 144 random chosen infertile men and 100 proven fertile men, a study of the FATE gene revealed 6 nucleotide substitutions, 4 of which were not amino acid altering, and 2 mutations. Each mutation was found only once in the...

Infertility and Sexual Dysfunction

Many men suffer from sexual dysfunction and infertility. Subspecialists in this area become experts in the use of prosthetic devices, artificial urinary sphincters, and the surgical correction of con- genital problems. Because of advances in medical therapy for sexual dysfunction, these urologists develop an in-depth understanding of both endocrinology and reproductive physiology. The area of sexual dysfunction is now expanding from men to also include women. Infertility focuses only on the male side, working in conjunction with the gynecologists who are fellowship-trained in infertility.

Prognosis for AZF deletions testis sperm retrieval and intracytoplasmic sperm injection results

Patients with AZFc deletions carry the best prognosis for finding sperm during testicular sperm retrieval procedures performed for intra-cytoplasmic sperm injection (ICSI). Although results vary by center experience and retrieval method, approximately 50-55 of AZFc deleted men will have testis sperm available for ICSI (Hopps et al., 2003 Krausz et al., 1999). In patients with complete AZFa or AZFb microdeletions, a negative prognosis for sperm retrieval is the expectation, but this is based on a very limited number of cases to date (Hopps et al., 2003 Krausz et al., 1999). Deletions involving one or more regions that include AZFa or AZFb have met with a similar poor prognosis. The ability to find testicular sperm in patients with partial deletions of AZFa or AZFb regions is not well described. One critical variable in this analysis is the technique and expertise of the reporting center, as a sperm retrieval that involves a single or few testis biopsies may not have the same sperm...

Weight Gain Infertility and Hypertension

A 30-year-old African-American woman with a complex medical history presented to her private physician with complaints of emotional lability and depression over the previous 12-18 months. During this period, she gained 25-30 lb (11-14 kg), despite her best attempts to maintain her weight through regular exercise. She also complained of infertility as she had not conceived after a year of unprotected intercourse with her spouse of 10 years. She did have a 5-year-old daughter from her current marriage. That pregnancy was complicated by preeclampsia. At presentation, she reported that her menstrual periods were irregular and in the last 6 months she had had only had two menstrual periods the last was 6 weeks ago. Because of her moon facies, plethora, buffalo hump, supraclavicular fat pads, centripetal obesity, stria, hypertension, and history of depression, infertility, and polyuria polydipsia nocturia, the differential diagnosis of her problems focused on Cushing syndrome. Baseline CBC...

Ascorbic acid See vitamin c

The disease has spread predominantly through injection drug use (IDU) and unsafe sexual practices. Some regions of Asia have similar problems to Africa. In India, for instance, large parts of the population in some areas of the country are migrant workers. These people, generally men, are away from their families for months at a time. When they are away, they fill their social time with alcohol, drugs, and sex outside their predominant relationship. upon returning home for a vacation, these workers often then infect their wives, who become pregnant and pass on the virus to children. India also has a large immigrant population of Eastern European and Russian woman sex workers who have assisted in spreading HIV. In other countries often the only way a family can earn money is to send their young children to work in brothels. In Thailand, Burma, and Cambodia young people serve tourists from around the world who arrive in the region for sex vacations. This has increased the spread among...

The transcriptome of the testis

Ellis and colleagues (2004) described the construction and validation of a comprehensive subtractive cDNA microarray covering approximately 2000 testicular genes that are strongly representative of genes expressed in meiosis and post-meiotic stages. The objective was to determine the transcriptional profile of the first wave of spermatogenesis in the mouse and compare the results to a variety of models of male infertility (1) XXSxrb (few if any germ cells) (2) mshi homozygotes (reduced numbers of spermatogonia and no progression beyond the meiotic stages) (3) Bax ( ) (atypical pre-meiotic cells and depleted post-meiotic stages) (4) bs homozygotes (failure of post-meiotic acrosome assembly leading to reduced sperm numbers) (5) azh (teratozoospermia and subfertility) (6) bcl-w. Their detailed analysis demonstrated clustering of gene expression at different stages and different days during the first wave of spermatogenesis (56dpp). The post-meiotic gene cluster (spermatid associated...

The Methodological And Epistemological Question The Perspective Of Molecular Biology

AFL - One hears a lot of talk nowadays about the geneticization of medicine and culture. The question lies at the center of debates among sociologists, philosophers and historians in journals like the American Journal of Medicine and Philosophy or the European Medicine, Health Care and Philosophy. One prominent claim is that the molecular trend in medicine, since the middle of the 20th century, is dehumanizing, as it promotes a kind of analytical pointillism at the expense of a more holistic approach to the treatment of patients. One hears of the threat of a tyranny of the genetically correct (the hunt for bad genes). It is suggested that the use, in human reproduction, of techniques borrowed from genetic engineering gives rise to dangerous tinkering. These problems will serve as the background for our discussion. First, I would like to ask you a methodological and episte-mological question what is the particular perspective, practically speaking, of working molecular biology

Taking A Family History Is A Way To Establish Client Rapport And Facilitate Patient Decisionmaking

Your patients are more likely to comply with your medical advice if they trust you and have a relationship with you. The process of taking a medical-family history provides an excellent opportunity to establish rapport with a client. A clear picture of family dynamics and the patient's life experiences usually unfolds while taking a patient's medical-family history. These family relationships and life experiences will have an impact on a patient's decisions about medical care and genetic testing. Compare Amanda, a healthy 37-year-old pregnant woman who has experienced 10 years of infertility, with Beth, who is also 37 years old but has two healthy children. Both women have the same age-related risk to have a child with a chromosome anomaly, yet each woman may make different choices about genetic testing during her pregnancy. Or consider two 45-year-old women who each has a mother who died of breast cancer at age 38 years. Their genetic risk assessments (drawn from factual empiric risk...

Translating mouse models to the human how do we go from knockout to diagnosis of male fertility

It would appear easy to screen men with specific phenotypes of infertility for genes that have been knocked out in mice and show male subfertility. Technically it is not difficult. Why then don't we have a plethora of genetic defects being reported The reasons are multi-factorial and include (1) differences in gene function between mouse and man, (2) the mode of inheritance does not follow traditional genetic pathways and (3) redundancy of the reproductive process. In addition to this there are specific issues that make the translation of information from the knockout to human challenging. To illustrate this we use the example of globozoospermia. Globozoospermia (round headed spermatozoa) is a well known but extremely rare condition. The majority of men have almost normal sperm concentrations with a relatively high proportion of motile spermatozoa however, abnormalities in sperm binding to the egg vestments necessitate the use of ICSI to achieve conception. To date, there is no clear...

The Impact of Medical Advances

Because of medical, surgical, and pharmaceutical technology advances (for example, minimally invasive surgery, robotics, and nan-otechnology), we are now able to offer to patients what we could not have imagined two to three decades ago (Porter-O'Grady and Afable, 2002). Transplants from living donors, in vitro fertilization, surgery in utero, reconstructive options, and costly medications that may retard but not cure a condition are only a few examples of the doors opened to us by medical research and technology. As technology and knowledge rapidly expand, we are presented with multitudes of additional possibilities that are new and that have varying success rates. Patients are faced daily with the question of whether to try something that may sap their resources, cause a degree of suffering, and in the end fail to work as intended or hoped.

Fertilising ability in vivo and in vitro

Assisted reproduction techniques have also permitted pregnancies to be initiated by in vitro fertilisation (IVF) of sperm removed from different regions of an occluded epididymis. It has demonstrated that both fertilisation and pregnancy rates are higher, the longer the length of epididymis the spermatozoa have encountered (Fig. 4.2J). As expected, fertilisation in vitro occurs with the use of mature sperm retrieved from the vas deferens (Brindley et al., 1986 Bustillo and Rajfer, 1986 Hirsch et al., 1993).

The Hohenfeldian cluster

(ii) Everyone has a duty to let P do X. This duty, which is contingent on the existence of certain rights, ranges from the negative duty not to impede P's action, to the positive duty to do what we can to make it possible for P to achieve X. These rights are called 'claim-rights'. Waldron notes that some of them are absolute, such as the right not to be imprisoned without due process, and some are contingent, such as the property rights over an item which has been purchased. The difficulty with this definition of a right lies in identifying what rights maybe asserted in this way, and in whether someone has passive or active duties in respect of them. Even the passive duty of allowing us our freedom to act as we wish is questionable in some cases. If a child, for example, wishes to exercise her freedom in a way with which her parents are unhappy, do her parents have to accept that she is a free agent and they have a duty not to interfere, or does she not have that right The age of the...

YInheritance Holandric

It contains only a short segment of functional genes that are largely responsible for determining maleness (autosomal genes are also associated with sex determination). A gene on the short arm of the chromosome called the SRY (sex-determining region of Y) mediates the male-determining effect of the Y chromosome. Genetic alterations in this segment can affect human sex differentiation, leading to such conditions as XY females and XX males. Alterations in the SRY gene and other gene loci on the Y chromosome may be responsible for hereditary infertility (Vogel and Motulsky, 1996 Okabe et al., 1998). Genetic causes of male infertility are reviewed in greater detail in Chapter 4, Section 4.16.

Method of NEthylNNitrosourea ENU Mutagenesis and Rearing of F1 Founder Fish

Producing F1 Mutagenized Founder Fish and Testing Specific Allele Frequency by In Vitro Fertilization One month after the final mutagenesis, F1 founder fish are most efficiently produced by in vitro fertilization, using sperm squeezed from mutagenized males (Westerfield, 1995). Resuspend squeezed sperm in 100 l Hank's saline (see Section VI.B.2), and use 10 l of this solution to fertilize eggs isolated from wild-type females (for more on in vitro fertilization, see Section IX-A or Westerfield, 1995). Using this strategy, 1500-2000 F1 progeny per mutagenized male can routinely be produced in a single day. To prevent the isolation of multiple mutations that result from a single mutagenic event, it is important to keep track of all F1 founders that are the progeny of a single ENU-mutagenized male. To minimize this possibility, we limit to 1000 the number of F1 progeny a single mutagenized male can contribute to the mutant library. An additional advantage of the in vitro fertilization...

Reproductive timing in males

Research in a variety of species has focused on the relationship between female reproductive synchrony and extrapair mating. Because of its potential to enhance the reproductive success of males beyond the number of eggs laid by their social partners, variation in the timing of female fertility may be an important determinant of the timing of male fertility however, the evidence for any relationship between reproductive synchrony and extrapair mating in tits is mixed. There was no relationship between synchrony index and extrapair paternity in blue tits (Kempenaers 1997 Krokene and Lifjeld 2000 Charmantier and Blondel 2003) or black-capped chickadees (Mennill et al. 2004). By contrast, in great tits the difference in laying dates between females was positively related to the number of EPY in a nest (i.e. females that laid early compared to the mates of their extrapair partners had fewer EPY than later-laying females Strohbach et al. 1998).

The Language Of Jay Dickey

Reportedly, Clinton wanted the NIH to stick to funding research using existing embryos left over from IVF procedures. But then the political winds shifted again, this time with gale force. In the 1994 mid-term elections, Congressional power shifted decisively to the Republicans. The next year, before any funding proposal had ever been approved by the NIH, Congress attached a provision to the

Morphological abnormalities

Primary flagellar ciliary dyskinesia is a syndrome characterized by a defect in axonemal structure or function that results in abnormal or absent flagellar ciliary movement. In human spermatozoa, tail abnormalities range from coiled, short or bent tails (light microscopy level) (World Health Organization, 1999) and the percentages of cells with such defects are approximately 14 and 50 in fertile and infertile men, respectively (Kubo-Irie et al., 2004). More defined structural alterations, such as missing or excess doublets or microtubules, outer dense fibers or central pair, double axonemes are observed by electron microscopy (Kubo-Irie et al., 2004). Multiple molecular aberrations are also reported, such as the absence or reduced number of dynein arms (inner and or outer), the absence of radial spokes, central pair or nexin links (Afzelius, 2004). Obviously, these disorders lead to infertility, chronic respiratory infections, etc.

Anna Zwanziger 17601811

Although she gave up her baby for adoption, it soon died. By now Anna was losing her looks and her preferred profession was no longer an option so she offered her services as a housekeeper and was employed by a succession of families. It was a position for which she showed a certain flair although she often resented being told what to do by the mistress of the house, a situation she sometimes resolved by poisoning the wife and then making a play for the husband. While they may have allowed her to console them in bed, none of them found her particularly suitable as a future wife.

Crazy Quilt Of Regulations

Germany and Ireland, for example, have decided to sharply limit controversial research and prohibit the use of surplus in-vitro-fertilization (IVF) embryos (though as stated above, Germany will allow the importation of embryos for research). Other countries including Belgium, Denmark, and Spain are opting to allow derivation of stem cells from surplus embryos created by IVF procedures.

Gayrelated immunodeficiency disease See gayrelated Immune Deficiency

Women also face a number of issues specific to them as women rape and AIDS, pregnancy, artificial insemination, prostitution, and the incidence of HIV AIDS in African women. Talking to children about HIV AIDS is not a gender-specific issue, strictly speaking but it is a burden that falls on women disproportionately. See women and

Human chorionic gonadotropin 233

Human chorionic gonadotropin (HCG) A naturally occurring hormone that is produced by women during pregnancy. HcG inhibits the mother's immune system from rejecting the fetus as foreign tissue. it is an approved therapy for treating infertility in women and cryptorchidism failure

Autografting using cloned embryos

Research in this area is in its very early stages. The UK government asked the Human Fertilization and Embryology Authority and the Human Genetics Advisory Committee to submit to it a report on cell nuclear transfer and human cloning generally. The report (HFEA HGAC, 1998) argued that whilst human reproductive cloning should remain, as it is currently, illegal, the technique of cloning for the purpose of harvesting stem cells was morally acceptable and should be brought within the terms of the Human Fertilization and Embryology Act (1990). This Act permits the creation of embryos for research into infertility, stipulating that they should be destroyed after 14 days, which is the point at which the embryo would normally have implanted in the womb of the mother. The main ethical issue that arises in this technique is that the embryo is used for purposes other than reproduction, and is subsequently destroyed. If a life begins when fertilization takes place, then life is being destroyed...

Affected Status Shading the Pedigree Symbols

Accurately documenting who is affected and unaffected on a pedigree is critical for pedigree analysis. A symbol should only be shaded in if the person (or pregnancy, miscarriage, etc.) is clinically symptomatic with the condition. Of course, this may be a function of the clinical tool that is used to define affected status. For example, the 2-year-old sister of a 5-year-old boy with classic symptoms of cystic fibro-sis may have no detectable symptoms, yet have elevated sweat chloride levels.

Mitochondrial toxicity 317

Miscarriage Termination of pregnancy at any time before the fetus has attained extrauterine viability. HIV-infected women are three times more likely to experience a miscarriage than healthy women. Researchers have suggested four possible factors that alone or in combination contribute to fetal demise in HIV-infected women direct toxic effects of HIV on the fetus fetal thymic dysfunction placental changes and elevated uterine levels of the inflammatory cytokines IL-4, IL-6, and TNF.

Attitudes Toward Psychotropic Medications

G related a complex life history that included lifelong physical and sexual abuse that started with her own family, prostitution during her adolescent years, lack of education, polysubstance abuse, marginal work as a barmaid, multiple abusive relationships, recurrent pelvic infections (including treated syphilis), and finally in the last several years a stable relationship with her husband, who was a recovered alcoholic patient with advanced cirrhosis of the liver. The gynecological examinations were being conducted for recurrent pelvic pain and infertility however, the medical record described several interactions in which Ms. G and her husband became angry with the doctor, and she refused further examination. The notes also reflected anger and frustration on the part of the medical residents (non-Spanish-speaking) attempting to examine her.

New drug application NDA See drug approval

Newborn screening The testing of human infants less than one month old to determine the presence of a particular disease (i.e., HIV AIDS), or of certain risk factors known to be associated with that disease. Today, AIDS testing and screening of large groups of people remain controversial issues whether or not HIV testing provides a net benefit both to the public health and to persons infected with HIV is still debated. one heavily debated issue concerns screening programs for all pregnant women and newborns. Advocates argue that such a program would be reasonable, given the accuracy of new confirmatory tests and the fact that perina-tally acquired HIV infection is less common than congenital syphilis or phenylketonuria (both are tested for routinely). Infected women, it is further argued, could make more informed choices about family planning, and infected newborns could be treated earlier.

Why does the X chromosome have a role in male fertility

Been identified and is expressed only in the testis (Rohozinski and Bishop 2004). Both as 'rescue' genes that explain the widely variable phenotype observed in men with AZF deletions, or primary effectors of currently unexplained genetic infertility, X-derived retrogenes are likely important for normal human spermatogenesis.

Young Woman with Postpartum Cerebral Venous Thrombosis and Abnormal Coagulation Tests

An 18-year-old young woman was transferred from an outside hospital to the neurology service for evaluation of headaches, seizures, and a parietooccipital infarct on a computed tomography scan. She had undergone an emergency caesarean section in the 34th week of her second pregnancy 4 weeks earlier. The baby did not survive. After the delivery, she started having severe, continuous, throbbing temporooccipital headaches. One week prior to admission, she had four episodes of generalized, tonic-clonic seizures. Apart from the headaches, she had no other symptoms, and the physical examination was normal. However, a magnetic resonance venogram and arteriogram showed a left transverse venous sinus thrombosis and a left temporal lobe infarct. Review of her past medical history revealed that she had one prior miscarriage at gestational age month 2. The family history was noticeable for a cousin with possible cerebrovascular accident in her 20s. Treatment with LMWH and warfarin was...

Neurocutaneous syndromes

Women must make sure that they are receiving enough folic acid before they become pregnant, because the neural tube closes during the period about a week after the first missed menstrual period. This is why mothers cannot wait to start taking folic acid when they first realize they are pregnant. For this reason, it is recommended that women of reproductive age take folic acid throughout their reproductive years.

Androgen receptor gene mutations 1 60000

In this condition, the androgen receptor (AR) is absent or functionally altered such that testosterone or its more bioactive derivative, dihydrotestosterone, cannot activate target genes. Thus, androgens have little to no effect on tissues as such the development of both internal and external genitalia are affected. Depending on the severity of the AR defect, serum testosterone levels can be low, normal or high. The androgen balance in each individual depends on the functional integrity of AR within the pituitary and hypothalamus. The clinical picture of infertility is also variable (nomenclature includes Reifenstein, Lub and Rosewater syndromes) and ranges from apparent females with testes (complete androgen insensitivity) to normal but infertile males (Shkolny et al., 1999). Over 300 distinct (mainly point) mutations and have been found in the AR, a large steroid receptor gene on the X chromosome (Xq11-q12) (Bhasin et al., 1998). Given the widely variable phenotype and numerous...

Sophie La Salle1 and Jacquetta M Trasler123

Epigenetics refers to non-sequence based mechanisms that control gene expression and has been described as the next 'frontier' in genetics. This chapter focuses on DNA methylation, one of the best-characterized DNA modifications associated with the modulation of gene activity. In humans, DNA methylation abnormalities have been linked to infertility, imprinting disorders in children and cancer. Recent studies have suggested that assisted reproductive technologies (ARTs) may be associated with an increased incidence of epigenetic defects in children and it is unclear whether the etiology is related to infertility with an underlying epigenetic cause or the specific techniques used. Gametes may be particularly vulnerable to epigenetic defects since genome-wide epigenetic methylation patterns are first initiated in the male and female germ lines the acquisition of gametic methylation patterns is subsequently essential for normal embryonic development. Here, recent progress in our...

Pregnancy counseling 391

Central to a woman's right to control her body, reproductive rights take on new meaning in HIV-infected pregnancies. Today the choices of becoming pregnant or terminating the pregnancy continue to be disputed. However, as more women become HIV-infected and give birth to HIV-infected children, many fear that childbearing may come under the surveillance of the state. Women of childbearing age may be among the first groups to undergo mandatory testing as part of an attempt to control the birth of HIV-infected newborns. Note that routine HIV counseling and voluntary testing of all pregnant women have been proved to be effective in several communities nationwide. Note too that the state has traditionally expressed an interest in protecting the rights of the fetus. This interest was transcended in the 1973 Roe v. Wade decision when the U.S. Supreme Court recognized a woman's right to choose an abortion. The court ruled that a woman's right to privacy must prevail against the state's...

Jonathan Michael Kaplan

Abstract Technologies for assisted reproduction often aim explicitly at giving hitherto infertile couples a 'child of their own' - that is, a child that is genetically related to them. And many couples find themselves spending enormous amounts of money, time, and energy attempting to have a child via these techniques. But why should a genetic relationship make a child any more 'one's own' than other kinds of relationships - for example, those parent-child relationships forged through adoptions There is a wide-spread assumption in much of contemporary society that genetic parenthood is important because of what it implies about the relationship between the (physical and behavioral) traits of the parents and those traits of the child arguments relying on these assumptions have even been accepted in some legal cases. I argue here that this state of affairs is particularly unfortunate, and that the over-blown rhetoric of the Human Genome Project and related research programs is at least...

Singlesite loss of DNA methylation

Introduction of intracytoplasmic sperm injection (ICSI) has greatly improved chances to conceive for couples with previous fertilization failures using in vitro fertilization (IVF). The success of ICSI with freshly ejaculated spermatozoa has been extended to epididymal spermatozoa, and even to elongating and round spermatids (reviewed by Tsai et al., 2000). It is unlikely that ARTs themselves, involving the use of haploid gametes, interfere with either erasure or acquisition of genomic imprints, as both processes appear to be complete by the spermatid phase of spermatogenesis. Nonetheless, there is cause for concern when abnormal or more immature gametes are used in ARTs to overcome male infertility. In mice, multiple approaches have been developed to overcome spermatogenic arrest, including injection of secondary and primary spermatocyte nuclei into oocytes (Kimura and Yanagimachi, 1995 Kimura et al., 1998 Sasagawa et al., 1998). Upon electrical activation of the oocyte, oocyte and...

The Illusion Of Control

But to what extent do we really expect, or should we expect, our children to be like us Physically, it is quite clear that children tend to resemble their (genetic) parents more than they resemble randomly chosen humans, and its reasonably clear that they tend to physically resemble their genetic parents more than they do random individuals chosen from among their particular social geographic locality. But quite often, even when children physically resemble their parents more than they do the population in general, they still don't resemble their parents very much. Having a child that shares (half of) your DNA does not guarantee that the child will look very much like you obviously, children often differ physically from their parents in ways we find significant. This is not to say that being the genetic parent of a child doesn't alter the probabilities of particular kinds of phenotypic outcomes - clearly it does. If it didn't, some of the cases of the 'wrong' embryo being implanted in...

Toward Enhanced Proximate Meaning

Relatively few people are cognizant of the dire ramifications of the human population explosion. The Catholic Church promotes unrestrained human reproduction through its official positions on sex and abortion. The leaders of most countries, including the United States, generally have failed to acknowledge that a demographic crisis exists, let alone have they sought to identify humanitarian solutions to the fundamental problem of human overpopulation.20

Studies required and implications for research

Efforts should be continued to study epigenetic events in human gametes and early embryos. A limited number of studies have provided some answers, but these studies were conducted on a small number of cells in most cases. Once it becomes technologically feasible, complete developmental studies using appropriate numbers of cells would be useful to delineate the epigenetic status of multiple genes and determine if the same enzymes identified in mouse are involved in epigenetic reprogramming during human gametogenesis and embryogenesis. This approach will also impact on our comprehension of human diseases with an epigenetic etiology and confirm the validity of animal models used to study epigenetics. Studies are required to determine whether there is an epigenetic basis for some cases of infertility in both males and females. Finally, recent studies suggesting connections between human ARTs and epigenetic defects in the offspring indicate that prospective studies of children conceived by...

Oakland Site Visit October 2001

The services provided include primary medical care dental, mental, and eye care clinic- and community-based health education nutrition services social services and off-site inpatient care. Asian Health Services has been serving the community since 1974 at three locations and with 120 staff. Its services include clinical services like maternal and child health HIV testing, counseling, and care adolescent, adult, and elderly care and urgent care. It provides health education services on topics ranging from family planning to disease prevention (cancer and HIV AIDS) and women's health.

Sexually transmitted disease 447

At the minimum, these diseases cause discomfort. Left untreated, some STDs can cause serious long-term health problems. For example, gonorrhea and chlamydial infections can cause pelvic inflammatory disease, infertility, and ectopic pregnancy. Several common STDs adversely affect pregnancy, resulting in spontaneous abortion, stillbirth, and premature delivery. Genital infections due to human papillomavirus are associated with cervical cancer, one of the most common cancers in women throughout the world today. Moreover a pregnant woman can pass an infection to her baby. Infections in newborns include syphilis, herpes, gonococcal conjunctivitis (an eye disease that can lead to blindness), and chlamydial pneumonia, an infection of the lungs that can develop into a chronic respiratory disease.

Box 348 The Option To Not Test

Away from our soul mate based on a printout from a genetic testing company Perhaps not. As genetic and reproductive technologies improve, giving up on having children, walking away from the love of your life, or having an abortion will be increasingly pushed aside by alternatives that let us fix the problem instead. Other technologies will allow for testing in the context of in vitro fertilization to preselect embryos free of the defect in question to be implanted in the mother's womb. Parental genotyping before reproduction will improve the odds that the children who are born will be healthy, or at least free of the identifiable defects for which their parents are carriers, and will improve the likelihood that neonatal health management will be improved in situations involving serious genetic illness that impacts the first days of life.

Difficulties Defeats For A Transcultural Law In Biomedicine

An obvious example that this is not an easy task is shown, at the moment, by the works developed inside the United Nations with the object to approve a universal convention to prohibit both reproductive human cloning as well as the so called therapeutic cloning. In fact, reproductive cloning has noticeably met with an almost universal agreement about its prohibition. It has not been taken into account that there could be some scenarios in which its illegitimacy in the future is not so evident (e.g. if when it would be a really safe technique, one would use it to combat the infertility of a couple or with the purpose of preventing the transmission of hereditary diseases to the descendants Romeo-Casabona, 1997, 21 ff. and Grupo de Expertos sobre Bio tica y Clonaci n, 1999). While, at the same time, the miscalled 'therapeutic' cloning is facing irreconcilable cultural conceptions opposed over the respect and protection of human life in its onset and also to the pressure of the scientific...

Singing context 1 Diurnal countersinging interactions

Interlopers in search of mating opportunities (Smith 1989 personal observations). Contestants typically exchange songs from a substantial distance from one another, although countersinging interactions sometimes escalate to extremely aggressive physical encounters (Dixon and Stefanski 1970) in the weeks prior to female fertility, song contests may escalate to the point where the two males, feet locked, tumble to the ground in a burst of feathers, usually with a crowd of observers close at hand. During countersinging interactions, contestants vary both the pitch of their songs and rhythm of their singing relative to their opponent (Fig. 14.2). Both the relative timing and relative frequency of contestants' songs are salient features of song contests.

The Influence Of International Law On Human Genetics In A Range Of New Constitutional Rights Of The Bioethical Citizen

These rights have deserved acknowledgement including in the political constitutions of some States, as Switzerland (reproductive medicine and gene technology in the human field), Portugal7 (personal dignity and the genetic identity of the human being) and Greece8 (protection of person's genetic identity).

Justification for studying human germ cell development

Given the existence of excellent model systems to probe the genetics of germ cell development, one could question the need to specifically understand human germ cell development as it undoubtedly shares similarity with that of the mouse. However, as noted briefly above, there are many unique aspects to human germ cell development including the following First, several human X and Y chromosome genes are expressed in different dosages or even absent in mice (Reijo et al., 1995, 1996a Skaletsky et al., 2003 Vogt et al., 1996 Zinn et al., 1993). Thus, complete understanding of development of germ cells is difficult on a genetic background that lacks key regulators. Second, reproductive genes and proteins are known to evolve more rapidly than somatic genes (Hendry et al., 2000 Swanson and Vacquier, 2002). For example, the amino acid sequences of the human genes that we recently identified, STELLAR, GDF3 and NANOG are only 30 identical to the mouse homologs and have distinct differences in...

Shaken baby syndrome 451

Health problems caused by STDs tend to be more severe and more common among girls and women, partly because girls may not have symptoms and thus do not seek care until serious problems occur. Some STDs can spread into the uterus and fallopian tubes, causing pelvic inflammatory disease, which in turn is a major cause of infertility and tubal pregnancy. STDs in girls and woman also may be eventually associated with cervical cancer. For example, human papillomavirus infection causes genital warts and cervical cancer.

Extraintestinal Manifestations

CD has been shown to be closely associated with a number of other disorders. Dermatitis herpetiformis, a skin disease characterized by symmetric pruritic papulovesicular lesions and the presence of granular deposits of IgA in the skin, affects 10-20 of patients with CD and responds to withdrawal of gluten from the diet. CD is also strongly associated with type I diabetes and autoimmune thyroid disease, especially hypothyroidism. The prevalence of CD in type I diabetes patients is 3-8 .2 Patients with untreated CD have an increased risk of certain types of cancer, specifically non-Hodgkin lymphoma, enteropathy-associated T-cell lymphoma, small intestinal adenocarcinoma, and esophageal or oropharyngeal squamous carcinoma. Neurological disorders, including peripheral neuropathy, cerebellar ataxia, epilepsy, and migraine, have also been shown to be associated with CD. Women with untreated CD may present with infertility, and infertility secondary to impotence or abnormally low sperm count...

Mechanism And Etiology

Nondisjunction can occur during either meiosis I (MI) or meiosis II (MII). In MI, homologous chromosomes pair and form bivalents (see Chapter 2). Malsegregation of homologous chromosomes can occur in one of two ways. The first involves nondisjunction of the bivalent chromosomes with both homologs going to the same pole (see Fig. 1d,e). This mechanism, as shown by Angell, can be a very rare occurrence (28). The second type of error involves premature separation of the sister chromatids of one homolog of a chromosome pair. Subsequent improper distribution of one of the separated chromatids results in its segregation with the other homolog of the chromosome pair (29) (see Fig. 2d,e). In MII, sister chromatids separate. Malsegregation occurs when both chromatids go to the same pole (see Fig. 3g,h). Cytogenetic studies of oocytes, performed mostly on unfertilized or uncleaved specimens obtained from IVF programs, have provided conflicting results regarding whether the frequency of...

Intergenerational effects

It is evident that endothelial cell function in the mother and the foetus are closely linked. Recent studies have addressed the question of what happens when the offspring of protein-restricted animals themselves become pregnant. Such offspring demonstrated impaired adaptation to pregnancy (Torrens etal., 2003). Although there was no difference in the weights or litter size of offspring, raised blood pressure and endothelial dysfunction were only seen in offspring where impaired maternal adaptation had occurred (Torrens etal., 2003). Such findings are consistent with studies that have demonstrated that women of low birthweight have a greater risk of their developing pregnancy-induced hypertension and gestational diabetes (Klebanoff etal., 1999 Innes etal., 2002, 2003).

Where Partnerships Can Be joined or Loosened in an Instant

I am making a different pitch, for romantic comedy as the genre least likely to mislead us, if we think of human evolution as a narrative. My rationale is that in action, war, and intrigue, people mostly just die. But in romantic comedy, people sometimes get pregnant. Evolution is a multi-generation epic that depends on some couples courting and having children. Although action adventures better fulfill Aristotle's insistence on the dramatic unities of time and place, maybe we should pay more attention to Darwin's insistence on our unbroken chain of descent. Human evolution could be imagined as a million-year-long version of Bringing Up Baby, in which ancestral Katharine Hepburns and Cary Grants fell in love through a combination of slapstick, verbal repartee, and

Sperm DNA damage assays and human fertility

Many assays for sperm chromatin structure have been developed in an attempt to determine whether cases of idiopathic male infertility could be explained by the sperm DNA being damaged. The rationale is that DNA damage may not be reflected in the sperm morphology, motility, or even its ability to fertilize the oocyte. However, damaged sperm DNA would be expected to prevent or reduce the spermatozoon's potential to fertilize and or inhibit embryo development. Several excellent reviews have recently been published that describe how the various techniques relate to each other and how they correlate with human fertility (Agarwal and Said, 2003 De Jonge, 2002 Evenson et al., 2002 Sakkas et al., 2003 Spano and Sakkas, 2005), and we will not attempt to review these clinical aspects. Instead, we will explore these assays in the context of our current model of sperm chromatin structure in an attempt to reveal new insights into their mechanisms. those areas of sperm chromatin that remain...

Oocyte Development And Molecular Staging By Proteomics

Ellederova et al. (2004) used proteomics tools to analyze pig oocyte proteins during in vitro maturation (IVM) using 2D-PAGE for separation, and visualization of oocyte proteins and MS for the identifications. Comparative analysis was used to identify unique protein patterns of different staged in vitro mature oocytes. They noticed that the expression of antiquitin (D7A1) increased during first meiosis and second meiosis compared to germinal vesicle in vitro maturated oocytes. Such differentially expressed proteins may be useful as bio-markers of oocyte IVM and quality. Ellederova, Z., Halada, P., Man, P., Kubelka, M., Motlik, J., Kovarova, H. Protein patterns of pig oocytes during in vitro maturation. Biol. Reprod. 71 1533-1539 (2004).

Illustrations and Tables

Table 4.25 Medical-Family History Questions for Diabetes Mellitus Table 4.26 Genetic Causes of Male Infertility Where Infertility May Be a Presenting Clinical Feature Table 4.27 Medical-Family History Questions Related to Male Infertility Table 5.1 Medical-Family History Features Suggestive of a Hereditary Cancer

The Approach Look For The Rare But Remember The Ordinary

In this chapter I provide suggestions for medical-family history queries for the following broad categories of disease birth anomalies (Section 4.2), hearing loss (Section 4.3), visual impairment (Section 4.4), mental retardation (Section 4.5), autism (Section 4.6), neurological conditions (Section 4.7), seizures (Section 4.8), dementia (Section 4.9), mental illness (Section 4.10), cardiac disease (Section 4.11), chronic respiratory disease (Section 4.12), renal disorders (Section 4.13), short stature (Section 4.14), diabetes (Section 4.15), reproductive loss and infertility (Section 4.16), and sudden infant death (Section 4.17). Family history markers for identifying individuals with an inherited susceptibility to cancer are discussed in Chapter 5. The decision to include these general groupings of disease in this chapter is based on my experience with some of the questions people have asked me most frequently about disorders in their family. The key to teasing out potential genetic...

Klinefelter syndrome incidence 1 500

This disorder is the most common genetic cause of azoospermia, accounting for 14 of cases. It is classically associated with a triad of findings small, firm testes, azoospermia and gynecomastia. Other features of the syndrome are increased height, decreased intelligence, varicosities, obesity, diabetes, leukemia, increased likelihood of extragonadal germ cell tumors and breast cancer (20 X higher than normal). Most affected individuals, however, do not exhibit the classic clinical phenotype. This is an abnormality of chromosomal number in which 90 of men carry an extra X chromosome (47 XXY) and 10 are mosaic with a combination of XXY XY chromosomes. It is thought that approximately half of XXY cases are paternally derived and recent evidence suggests that its occurrence may correlate with advanced paternal age (Lowe et al., 2001). Testis biopsies show sclerosis and hyalinization. Hormonal evaluation usually demonstrates a low testosterone and frankly elevated luteinizing hormone (LH)...

Disease Manifestations

Major complications of the CF disease occur in the respiratory tract, causing sinusitis and respiratory failure. Severe bacterial infestation of the respiratory passage is also a major problem in CF patients. The second most common complications arise in the gastrointestinal tract. Other organ systems that are involved and show complications are the sweat glands (salt loss syndrome) and reproductive system (male infertility and reduced female fertility) (Table 26.3). The disease presentation varies from patient to patient depending upon the functional status of the CFTR protein or by the type of mutation present in the CFTR gene. In addition, new evidences suggest roles for some modifier genes and environmental factors in the development of CF.33,34 The pancreas is an important gland of the digestive and endocrine system of the body carrying out both the exocrine and endocrine function. The exocrine function is carried out by the acinar cells that produce the enzymes needed to digest...

Characteristics Of Normal Vaginal Discharge

The observation that variation in cervical secretions was associated with changes in vaginal discharge led the Australian physician John Billings to study vaginal secretions as a way of predicting ovulation (22,23). Billings studied several hundred women using self-report, often correlated with biochemical markers of ovulation, and described a typical pattern of vaginal discharge based on the changes in cervical mucus. The pattern began with a postmenses dry period followed by a period of discharge attributable to increasing production of cervical mucus. The discharge resulting from this mucus was initially opaque and sticky. At the time of ovulation, the discharge was stretchy, wet, and slippery (reflecting spinnbarkheit), becoming opaque and tacky later on in the cycle. The typical pattern might be altered by infection or semen. The ovulation method or Billings ovulation method is promoted either for the purpose of family planning or for that of infertility treatment (24).

The Greek Medical Ethics Of Abortion

Sophi was one among hundreds of millions of women without access to contraception.59 In the refugee camp, sexual barter for the necessities of life was common rape was prevalent and went unpunished. Modern relief authorities controlled the kind of medical care Sophi could receive and withheld contraceptives and the means for a safe medical abortion. As with her counterparts in ancient Greece, the local midwife offered an ineffective and unsafe abortion. On that day, Sophi was one of 53,000 women in developing countries who had unsafe abortions, and one of the 200 who would die from that procedure. In her death, she evaded the risk of chronic pelvic pain, infertility, future miscarriage, or pregnancy outside the uterus from lay abortions.

Genes Genetic Determinism And Children

These kinds of claims are made by various human genetics researches in countless interviews and articles meant for popular consumption such claims have clearly had an impact on the social and legal landscapes surrounding parenthood. For example, in the contract pregnancy ('surrogate mother') case of Johnson v.Calvert, Johnson (the gestational birth mother) and Calvert (the woman whose egg was used in IVF and implanted in Johnson) each claimed to be the legal mother of the child that resulted. In this case, both the initial court ruling, and the decision of the appeals court, made explicit reference to the importance of the genetic relationship in framing their decisions. Judge Richard Parslow (a trial judge in Orange County) ruled that the gestational mother in the case was 'analogous to a foster parent ' and that her womb was merely 'the home in which she had sheltered and fed another's child' (see Ellman et al 1991 1324, see Superior Court of Orange County, Nos. X-633190 and...

Female eavesdropping in blackcapped chickadees

Using a modified version of Otter et al. (1999) interactive playback study, Mennill et al. (2002, 2003) engaged male chickadees in countersinging contests with a simulated intruder to test whether female black-capped chickadees eavesdrop on male-male song interactions. The experiment involved playback to groups of four birds two pairs of breeding partners in neighboring territories, where the males had been flock-mates during the previous winter, one high-ranking and one low-ranking. Playback was conducted at the onset of female fertility and occurred in four successive stages (Fig. 14.4a). In stage 1, one male was engaged in a 6-min countersinging contest with a playback-simulated intruder. In stage 2, an hour later, the other male was engaged in a 6-min coun-tersinging contest with the same playback-simulated intruder. We used the same catalogue of songs to interact with both males, but with one male we simulated an aggressive opponent (one who overlapped and pitch-matched all of...

Impact of oxidative stress on spermatozoa

In summary, while spermatozoa are vulnerable to oxidative stress and lipid peroxidation, the unique packaging of these cells normally renders the DNA resistant to such damage, particularly in Eutherian mammals. However in cases of male infertility, poor packaging of the sperm chromatin increases the vulnerability of these cells to oxidative DNA damage. This conclusion is in keeping with several studies showing that spermatozoa from infertile men not only exhibit more basal DNA damage but are also more susceptible to damage from both H2O2 and X-irradiation (Hughes et al., 1998 McKelvey-Martin et al., 1997). Infertility

Creating A Medical Pedigree Getting Started

Testing status ( E is used for evaluation on pedigree and defined in key legend) Pregnancies with gestational age noted LMP or EDD (estimated date of delivery) Pregnancy complications with gestational age noted (e.g., 6 wk, 34 wk) miscarriage (SAB), stillbirth (SB), pregnancy termination (TOP), ectopic (ECT) Infertility vs. no children by choice Ethnic background for each grandparent Use a if family history is unknown unavailable Consanguinity (note degree of relationship if not implicit in pedigree) Family names (if appropriate) Date pedigree taken or updated plain any infrequently used symbols (such as adoption or artificial insemination) or uncommon abbreviations.

Lead and the decline of empires

Sapa was used to preserve wine, and especially Greek wines. These were popular in Rome but had a reputation for causing sterility, miscarriages, constipation, headaches, and insomnia - all of which would be true if they had been doctored with sapa. Roman prostitutes were reputed to eat sapa by the spoonful because it acted as a contraceptive, gave them attractive pale complexions (due to anaemia), and would cause abortions. Clearly lead could have been a factor in the decline of the Roman and British Empires if one assumes that their fate lay in the hands of rulers whose brains were affected by the metal. And while lead may have affected the fertility of the Roman population, it certainly did not affect that of the British, who reproduced at such an alarming rate in the 1700s and 1800s that leading thinkers of the time, such as the economist Thomas Malthus (1766-1834), warned that it was likely to increase beyond a point at which there was sufficient food to support it, and that...

Single gene defects in infertile men

Besides the AZF genes in Yq11, it has been predicted from mouse knock-out models that numerous autosomal and X-chromosomal genes also expressed in the human male (and female) germ line can cause infertility (Cooke and Saunders, 2002 Matzuk and Lamb, 2002). However, although most of their human homologues are known, it is often unclear whether and how these genes are also functional in the human male germ line. Only the genes functioning for meiosis seem to be functionally conserved in the eukaryotic kingdom, whereas a rapid evolution of just reproductive proteins has been reported (Swanson and Vacquier, 2002 Wyckoff et al., 2000). Indeed, when 2820 functionally equivalent rodent and human gene sequences were compared, many genes functional in the male germ line were found among the 10 most divergent sequences (Makalowski and Boguski, 1998). Functional human male fertility genes might therefore be revealed only by extensive mutation analyses of human genes known to be expressed in...

Pedigree Symbols Related to Pregnancy and Reproduction

The various pedigree symbols related to pregnancy, spontaneous abortion, termination of pregnancy, stillbirth, and infertility are shown in Figure 3.5. Always include the gestational age, in weeks (wk), if known, below the symbol. An approximation of dates can be shown, such as 12 wk. Usually the gestational age is stated as the date of the last menstrual period (LMP) or the estimated date of confinement (EDC). Some clinicians prefer using EDD (estimated date of delivery) because the description confinement seems archaic. You can note pregnancy dating by ultrasound (US) as US 12 wk.

In The City Of The Lion

Ariff Bongso was the right person at the hospital to make the effort. An astonishingly intuitive man who had started out in the field of veterinary science, he had become involved with IVF work in the early 1980s. It was the dedication of researchers like Bongso that has helped make the technology commercially feasible across the globe. In the early 1990s, he achieved international scientific acclaim by growing IVF embryos on a bed of fallopian tube cells. This improved the embryo's sustainability and increased the odds that the embryos would survive the traumatic transplantation procedure. His extensive work with the newly created human embryos convinced Bongso that he could create lines of cells that could be grown into tissues at a later date for treating disease. He made his attempt in 1994, performing brilliantly at the first attempt and coming to the brink of success on the second. Once he received permission from the hospital's bioethics committee, he obtained twenty-one...

The Destructive Pessary

Abortion was legal in ancient Greece. Greek medical texts described many women after spontaneous and induced abortions.8 The ancient accounts often did not distinguish between induced and spontaneous abortions (miscarriages).9 Sometimes the woman did not tell the physician how the abortion came to be. The treatises discuss how to try to treat a potential miscarriage 12 but do not describe any attempt to medically reverse an abortion that a woman had elec-tively and deliberately induced. On the Diseases of Women gives detailed instructions on how to dismember a dead fetus that is retained in the uterus.13 The overall picture that emerges seems to be one where physicians were practicing in a culture where abortion was not infrequent but where it was largely performed within a women's culture.

Prognosis for AZF deletions offspring

It has been shown that men with AZF deletions who conceive with IVF-ICSI will pass on the Yq deletion to male offspring (Mulhall et al., 1997, Oates et al., 2002). Thus far, children conceived with an affected father are somatically healthy. However, male offspring would be expected to show similar spermatogenic deficiencies that currently exist in Yq-deleted men. Given that genetic mutations can remain stable or increase in extent as a species evolves, it is likely that male offspring of Yq-deleted men could possess a more severe phenotype than their fathers. In this scenario, a father with non-obstructive azoospermia and isolated foci of spermatogenesis and a Yq microdeletion phenotype might bear a son who is completely sterile.

Microsphere formulations of luteinizing hormonereleasing hormone and analogues

Luteinizing hormone-releasing hormone (LHRH), also known as gonado-tropin-releasing hormone (GnRH), is a naturally occurring decapeptide that stimulates the release of the pituitary gonadotropins luteinizing hormone (LH) and follicle-stimulating hormone (FSH). LHRH is secreted in a pulsatile manner, and its replacement for treatment of primary infertility of hypotha-lamic origin requires pulsatile administration every 60 to 90 min through programmable pumps.118 LHRH is readily degraded in the body by pro-teolytic enzymes and has a half-life of only 8 min. Several agonists and antagonists of LHRH have been synthesized and are promising agents for a range of clinical applications. Compared to LHRH, these agonists have

The Legacy Of Brown And Warnock

On July 25, 1978, the IVF pioneers Robert Edwards and Patrick Steptoe announced the birth of Louise Joy Brown. Little Louise was the world's first baby to be conceived outside the human womb. Two developments quickly became apparent. First, Louise was born and developed completely normally, removing once and for all the fears that this type of fertilization would mutate into a horrific result just because it took place in a petri dish. Second, the technique of IVF was an evolutionary, not revolutionary process, based on many earlier models not the least of which had been used in the veterinary sciences for years. As a result, it would be a breathtakingly short period of time before IVF became, if not commonplace, a relatively routine procedure for couples who had problems conceiving. The intense debates that developed from the rise of the IVF clinic led the British government to take action. In 1982, Helen Mary Warnock was assigned as the chair of a special committee of inquiry into...

Detection of ROS in the male germ line

The most commonly used method for detecting ROS in an andrological context is chemiluminescence, using the probes lucigenin or luminol (Aitken et al., 1992a, 2004a). Lucigenin (N,.N'-dimethyl-9,9'-biacridinium dinitrate) carries a positive ionic charge it is generally thought to be relatively membrane impermeant and to respond to Oj', in the extracellular space. However, the positive charge associated with this molecule may also favour its partition into mitochondria, as a consequence of the electronegative mitochondrial membrane potential (Li et al., 1999). Indeed, studies using rat spermatozoa as a model indicate that the lucigenin signal generated by these cells can reflect Oj' produced by the sperm mitochondria (Vernet et al.,2001). However there are no data to suggest that the lucigenin signals generated by human spermatozoa are of mitochondrial origin, even though such signals are inversely correlated with sperm quality (Aitken et al., 2003) and significantly elevated in cases...

The extended semen evaluation

Semen Analysis Germ Cells

If abnormalities are found during the basic investigation, or if the couple is diagnosed with unexplained infertility, the work-up should progress to the examination of specific structural features, biochemical characteristics and sperm functions. We reported a meta-analysis on 34 published and prospectively designed, controlled studies. The aim was carried out through the examination of the predictive value of four categories of sperm functional assays (computer-aided sperm motion analysis or CASA, induced-acrosome reaction testing, sperm penetration assay or SPA, and sperm-ZP binding assays) for IVF outcome (Oehninger et al., 2000). Results demonstrated a high predictive power of the sperm-ZP binding and the induced-acrosome reaction assays for IVF outcome. On the other hand, the findings indicated a poor clinical value of the SPA as predictor of fertilization and a real need for standardization and further investigation of the potential clinical utility of CASA systems. Although...

Mutations In The Gene That Encodes The Androgen Receptor

AIS females are often considered quite attractive by contemporary standards, and they are often taller than the average woman. The health implications of AIS are risk of testicular cancer, infertility, gonadectomy, hormone replacement therapy, and, eventually, osteoporosis. Psychologically, they are as stable and happy (or not) as women with two X chromosomes who end up coping with fertility issues. They can be expected to live perfectly happy, normal lives and, when they so choose, become parents of adopted children or stepchildren. Do AIS women (with XY karyotype and no functional androgen receptor) have the same characteristics as TDF-negative women (with XY karyotype and no functional TDF protein) No. Recall that the TDF-negative woman, in the absence of the TDF signal, has produced female gonads, which provide an estrogen-dominated hormonal environment. Although they are infertile because their meiotic processes needed two copies of the X chromosome, they have a full set of...

Analysis Of Fetal Cells Karyotyping

Thus, if you are concerned about a genetic defect and want to include mutation screening as part of your family planning, it will work out much better if you start asking questions before you are pregnant. You may be told that a standard test is in place that can do everything you need done at the time of the prenatal test, or you may be told that you qualify for some type of preimplantation testing. However, depending on what the gene is and what the genetic defect is, beginning your inquiries ahead of time might give you important choices that might not be available if you wait until week twelve of the pregnancy. Of course, there are many cases (new mutations or recessive diseases that you don't realize are lurking in the genomes of both you and your spouse) that you don't even know you should ask about until the first child with a problem is born into a family. Even then, asking your relatives questions about the family medical history can sometimes offer a warning. If you have a...

The Masturbation Scare

The book is divided into three sections causes, consequences, and diseases caused by self-pollution. Masturbation was not only condemned as a sin, but by tracing its consequence upon both the body and the soul, the author inserted the moral consequences into the medical outcomes. For example, masturbation was linked to stunted growth, phimosis and paraphimosis, strangury, priapism, gonorrhea, ulcers, thin and waterish seed, fainting fits, epilepsy, consumption, loss of erection, premature ejaculation, and infertility. The book is notable for not only raising the specter of masturbation as a medical, moral issue but for describing the ill effects of masturbation on women. Hence, masturbation was believed to cause the relaxation of private parts and retentive faculty leading to infertility, because male semen could no longer be held within the woman. Moreover, according to the author of Onania, women who masturbated were prone to hysterical fits, barrenness, imbecility, fluor albis...

Prognosis for AZF deletions testis histological findings

When analyzing the testis histology associated with Yq microdeletions, it appears that several general patterns exist (Vogt et al., 1996). Complete AZFa deletions are associated with germ cell aplasia or Sertoli cell-only histology (Type I). Complete AZFb deletions are generally associated with maturation arrest at the primary spermatocyte (early) or spermatid (late) stages. As might be expected, partial AZFa or AZFb deletions have a mixed testis phenotype. AZFc deletions are associated with hypospermatogenesis or a Sertoli cell-only Type II (better chance of finding foci of spermatogenesis than Type I) phenotype. Combined deletions of two or more regions that include AZFb are associated with Sertoli cell-only or maturation arrest phenotype. An important consideration for fertility treatment in these patients is the observation that there may be a time-dependent decline in sperm production in AZFc-deleted patients (Simoni et al., 1997).

Male fertility marker genes

Mature mammalian spermatozoa require a post-testicular maturation process, including their exposure to the specific microenvironment provided by the epi-didymis. Therefore, ICSI fertilisation rates with testis-extracted spermatozoa (TESE) are usually lower then when mature spermatozoa isolated from the patient's ejaculates are used (Tournaye, 1999 but see also Bukulmez et a .,2001).Also,a reduced implantation rate has been reported for ICSI cycles using testicular sperm compared with those using ejaculated sperm (Pasqualotto et a ., 2002 Ubaldi et a ., 1999). Thus, there is ample circumstantial evidence that epididymal function is essential for male fertility and that epididymal proteins are involved in this process (Kirchhoff, 1999). However, our understanding of how the individual proteins implement the acquisition of sperm fertilizing ability is still unclear. In order to better appreciate the role of the epididymis at a molecular level, a careful analysis of its specific pattern...

Kallman syndrome 1 30000

Idiopathic hypogonadotropic hypogonadism (IHH) or Kallman syndrome is characterized by hypogonadism. Most patients experience a delay in puberty although those with less severe defects may present with only infertility. Other findings include anosmia, small testes and occasionally renal agenesis, bimanual synkinesia, cleft lip and dental agenesis. When anosmia is not present, the condition is termed IHH. Testicular biopsies display a wide range of findings from germ cell aplasia to focal areas of complete spermatogenesis (Patrizio and Broomfield, 1999). The condition is inherited as a familial disorder in one-third of cases. Both X-linked and autosomal inheritance patterns have been described (Bhasin et al., 1998 Layman et al., 1998). In the X-linked recessive form, deletions occur in Kalig-1 (kallman-interval 1 or KAL1), a gene responsible for the migration of gonadotropin releasing hormone (GnRH) neurons to the pre-optic area of the hypothalamus during development (Bick et al.,...

Sperm chromatin structure and fertility


Understanding the structure of this compact sperm chromatin reveals several likely targets for DNA damage. We will next review the different chromatin structure assays that are currently being used to correlate human infertility with sperm DNA damage in the context of what we know about its structure.

Aflatoxins and how they cause cancer

Fungal contamination of food crops can produce a range of other toxins, known collectively as mycotoxins.4 These include ergot, tricothecenes like T2 toxin and nivalenol, ochratoxin, sterigmatocystin, fumagillin, and the delightfully named vomitoxin. It has been estimated that 25 per cent of the world's food supplies are contaminated with mycotoxins and in the past large numbers of people in many countries suffered ill health, infertility, and even death as a result of the contamination of food with these toxins. Even within the last century or so outbreaks of poisoning have occurred, for example ergotism was reported in Ethiopia in i978 and tricothecene (T2 toxin) poisoning was known in the Soviet Union in the period 1931-47 (see below pp. 246-7).

Engineering the Germline

The third approach is to remove gametes or other germline cells from the patient, insert a specific transgene into them in a test tube, and screen the resulting cells in vitro for viability and presence of foreign DNA. The transformed cells then might be returned to the individual's reproductive tract, or, more likely, used immediately to produce a new embryo (e.g., via artificial insemination or by IVF). The technical feasibility of such germline manipulation recently was addressed in another primate, a rhesus monkey named ANDi (from inserted DNA spelled backward). True to his name, ANDi carries a foreign gene for a green fluorescent protein (GFP) delivered to the unfertilized egg from which he arose. Scientists isolated 224 mature oocytes from adult rhesus females, exposed them to GM retroviruses housing the GFP gene, artificially fertilized the manipulated egg cells with rhesus sperm, and implanted the fertilized eggs into the monkeys' reproductive tracts. Three baby monkeys...

Reproductive Tinkering

Can a sterile man, unable to produce mature sperm, nonetheless father healthy children Thanks to breakthroughs in human reproductive technology, the surprising answer is yes. A recent clinical case involved an infertile man suffering from azoospermia, a common condition often of genetic origin (involving, for example, microdeletions in the Y chromosome). Fatherhood was accomplished by a medical procedure, intra-cytoplasmic sperm injection (ICSI), which involves the isolation and microinjection of immature, tailless gametic cells (spermatids) from the man's germ line directly into his wife's egg, thereby bypassing many of the complicated tasks normally required of a mature sperm to swim to and penetrate the egg's outer covering. The clinical techniques are reminiscent of those mentioned above in the creation of transgenic animals via hypodermic microinjection of DNA into an egg cell, except that here the injection consists of an entire haploid genome. In the last decade, ICSI...

Temperature and Humidity

A review of housing guidelines and published data pertaining to temperature and humidity reveals the gaps in our knowledge that make it difficult to specify precise environmental conditions. Most common laboratory animals are adaptive homeotherms and as such make anatomic, metabolic, and physiologic adjustments in response to their environment to maintain well-being. Environmental adaptation in both wild and laboratory animals suggests that consistency in environment may not be normal or perhaps even desirable. To demonstrate effects caused by temperature or relative humidity, it may be necessary to have a complex unique set of conditions present unless extreme and clearly unacceptable conditions are utilized. For example, testicular degeneration infertility in mice has been shown to occur when temperatures exceed 83 F within the secondary enclosure.

The Conditional Pregnancy

Years ago, women attempting to bear children waited to seek a pregnancy test until their second missed period. They then went in for the so-called rabbit test, and a positive result was often sufficient to warrant announcing the happy news. These days, the home tests available at most supermarkets or drug stores are accurate on the first day of the first missed period. However, earlier knowledge, coupled with increases in prenatal diagnostic techniques, has not always resulted in earlier announcements of impending births. Rather, women are increasingly aware that, on average, one sixth of human pregnancies will result in miscarriage before the end of the twelfth week. Perhaps not surprisingly, some couples are then waiting to announce the pregnancy either until after the end of the first trimester or until they have seen a healthy fetus developing on a sonogram. Couples are also becoming increasingly more guarded and concerned about genetic disorders, as well. Some of these couples...

The Scheherazade Strategy

Courtship, as men may be tempted to abandon a woman after she has become pregnant, and search for a new woman. In the Pleistocene age, females who could keep a useful male around for longer would have enjoyed more comfortable lives, and their children would have prospered. Through their courtship efforts, ancestral females could maintain male sexual commitment and paternal investment in their offspring. Sexual selection through male mate choice created modern women's drive to keep men sexually attracted to them over the long term. They do this, in part, by continuing to use verbal courtship long after men might prefer to read the newspaper.

Concerns Related To The Development Of Reprogenetics

The idea that the human species will one day apply to itself the same technological tools as it has used to modify plants or animals is not new. Jean Rostand wrote in 1950 (92) whether it is by the genes in the nucleus or by the genes in the cytoplasm, it looks as though Man may end up producing major structural improvements in the human body . Erik Parens and Lori Knowles, the authors of the American report, start from an observation. During the second half of the 20th century, medically-assisted procreation (MAP) and molecular genetic research developed separately. MAP, with the aim of treating sterile couples, invented its own methods (IVF, ICSI,3 etc.). Molecular genetics used bacteria, before launching itself into the investigation of more complex organisms, such as Arabidopsis thaliana, the mouse-ear cress, a small cruciferaceous plant, in order to map their genes (21000 genes, for Arabidopsis), and to identify the function of these genes. During the 1990s, the techniques...

Biceps tendon rupture

Cyclophosphamide, and cyclosporine are added. There are good studies showing that azathioprine is effective, but there are a few controlled trials comparing different treatments. thalidomide is moderately effective for decreasing the frequency of attacks of oral and genital ulcers but has many side effects and is absolutely contraindicated if there is any chance of the patient becoming pregnant. Recently, alpha-interferon and tumor necrosis factor (tnf) antagonists have shown promise in early studies, but it is too early to tell what their role will be. if venous or arterial thrombosis occur, then anticoagulation, first with heparin and then with warfarin, is used.

Sperm hyperactivation

Spontaneous sperm hyperactivation in semen occurs in 16 of infertile men with normal semen analysis but only in 3 of normal men (de Lamirande and Gagnon, 1993c). Semenogelin could prevent premature hyperactivation and the related infertility since it blocks in vitro capacitation and hyperactivation at a concentration 200-fold lower than that found in seminal plasma, probably by interaction and inhibition of the sperm oxidase responsible for the superoxide production (de Lamirande et al., 2001). Even though seminal plasma contains other substances, such as cholesterol (Cross, 1996 Purdy and Graham, 2004), zinc (Andrews et al., 1994 de Lamirande et al., 1997) and ROS scavengers (de Lamirande and Gagnon, 1993c), that are known factors that could prevent premature hyperactivation, this fluid also contains factors that can, at low concentrations, induce sperm hyperactivation (de Lamirande et al., 1993c). Therefore, a fine balance between inhibitory and stimulatory factors is needed to...

Obstetrics and Gynaecology

Candidates will be expected to have adequate knowledge of the physiology of normal pregnancy, labour, delivery and the puerperium, together with an insight into common disease states of the pregnant woman and the newborn infant and their investigation and treatment. Candidates will be expected to have adequate knowledge of disturbances of reproductive function, including menstrual disorders, infertility, contraception and family planning, and genital infections. In addition, an understanding of the presentation, investigation and management of gynaecological malignant disease will be required.

Genetics And The Ethical Legal And Sociological Debate

Kaplan starts challenging the overall presentation of technologies for assisted reproduction which often aim explicitly at giving hitherto infertile couples a child of their own - that is, a child that is genetically related to them. Kaplan formulates his main objection in the form of the following question why should a genetic relationship make a child any more 'one's own' than other kinds of relationships -for example, those parent-child relationships forged through adoptions Indeed, there seems to be a wide-spread assumption in much of contemporary society that genetic parenthood is important because of what it implies about the relationship between the (physical and behavioral) traits of the parents and those traits of the child arguments relying on these assumptions have even been accepted in some legal cases. Kaplan argues in his incisive paper that this state of affairs is particularly unfortunate, and that the over-blown rhetoric of the Human Genome Project and related...

Women Men And Gynecology

Gynecology quickly developed a comprehensive and male-centered view of the female patient. Therapeutic pessaries were not only used to treat uterine diseases (e.g., infertility,20 postpartum infections,21 retained placentas,22 and amenorrhea23). They also were therapeutic, along with sex and marriage, in treating other conditions that were attributed to an obstructed, disordered, or wandering uterus (e.g., heartburn, suicidality, homicidal rage, hallucinations, depression, jaundice, sleepiness, and nasal congestion.24) One text went as far as to say, As for what are called women's diseases the womb is responsible for all such diseases. 25 Male physicians prescribed treatments for disorders of pregnancy, such as toxemia.26 They also prescribed contraception, If a woman does not wish to become pregnant, dissolve in water, misy as large as a bean and give it to her to drink, and for a year she will not become pregnant. 27 As the Oath notes, women were denied positions as medical teachers...


Known to have, in standard medical parlance, a condition incompatible with life. Abortions can be induced by drugs, suction, scraping of the lining of the uterus, injection of a sterile hypertonic solution into the amniotic cavity, or surgery. Premature terminations of pregnancy that occur spontaneously are called miscarriages. Prior to the 1970s abortions were often done in unsanitary offices, in private homes, or in other nonmedical locations. Currently some states require a 24-hour waiting period before an abortion can be performed, particularly for women below the age of 18. The drug mifepristone (also known as Mifeprex or RU-486) was approved in 2000 for usage in the United States but so far has been little used. abstinence Going without or refraining voluntarily, particularly from indulgence in food, alcoholic beverages, or sexual activity (some people include masturbation in this definition, others do not). Sexual abstinence is an option people have exercised for a variety of...

List of contributors

Institute of Reproductive Medicine of the Division of Reproductive Endocrinology and Infertility University of Minnesota Minneapolis, MN, USA Department of Obstetrics and Gynecology The Jones Institute for Reproductive Medicine Eastern Virginia Medical School Norfolk, VA, USA Section Molecular Genetics and Infertility Department of Gynecology Endocrinology and Reproductive Medicine Institute of Reproductive Medicine


Catherine de Medici, queen of France (1547-1559), brought poisoning skills from Italy to France. It is said that she learned a great deal about poisoning by experimenting with the sick, poor, and criminal. Several political poisonings were ascribed to her actions. Other celebrated practitioners of this art during the late Middle Ages included Madame Giulia Toffana, executed in 1719, and murderer of more than 600 victims. Toffana dispatched her victims with arsenic trioxide. French women who murdered with poison included Marchioness de Brinvilliers and Catherine Deshayes, who were executed just 4 years apart in the late seventeenth century. De Brinvilliers was not limited to one poison but used mercury bichloride, arsenic, lead, copper sulfate, and antimony. Deshayes specialized in family planning and executed 2000 infants and an uncounted number of husbands. She is alleged to have used a mixture of aconite, arsenic, belladonna, and opium. Because she practiced sorcery, she was burned...


Major progress has been achieved in spermatology in the last decade, including the successful transplantation of fresh (Brinster and Avarbock, 1994) and cryopre-served (Avarbock et al., 1996) testicular tissues, reported production of spermato-genic cells from stem cells (Geijsen et al., 2004 Toyooka et al., 2003), production of transgenic animals (Yanagimachi, 2005) and routine use of intracytoplasmic sperm injection (ICSI) in clinical practice. However, many challenges remain, including the development of reliable conditions for spermiogenesis in vitro, the complete, repeatable profiling of the spermatogenic transcriptome and proteome, identification of all major genes involved in the control of spermatogenesis and gene therapy of human male infertility. The development of more accurate methods for assessing spermatogenesis and human semen quality remains a major challenge, given the variability of human sperm morphology (Fig. 1.7), increased enrollment of patients in assisted...

Pregnancy Guide

Pregnancy Guide

A Beginner's Guide to Healthy Pregnancy. If you suspect, or know, that you are pregnant, we ho pe you have already visited your doctor. Presuming that you have confirmed your suspicions and that this is your first child, or that you wish to take better care of yourself d uring pregnancy than you did during your other pregnancies; you have come to the right place.

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