Differential Diagnosis

Each of the symptoms and signs of Cushing syndrome has an extensive differential diagnosis. The most common issues concern distinguishing exogenous obesity from Cushing syndrome. In cases of exogenous obesity the arms and legs are not thin and do not demonstrate a loss of muscle mass. In exogenous obesity, stria appear more pink in color and not purple. If the physician cannot clearly exclude Cushing syndrome in an obese patient, laboratory evaluation would be required. Other pathologic causes...

Von Willebrand Disease

Von Willebrand disease (vWD) is the most common inherited hemostatic disorder. The prevalence of vWD is approximately 100 per million worldwide when diagnostic criteria include a history of symptomatic bleeding and appropriate laboratory findings. vWD disease is divided into quantitative and qualitative vWF multimer defects. Type 1 vWD is a partial deficiency of vWF, with autosomal inheritance and incomplete penetrance, accounting for 70-80 of the diagnoses of vWD. Bleeding symptoms are...

Woman with Diarrhea and Anemia

A 48-year-old woman presented to her primary care physician with a one-week history of fatique, weakness, and six to seven bowel movements per day, all of which were watery, greenish-brown, and foul-smelling without any evidence of bleeding. The patient states that the diarrhea was usually associated with abdominal pain and bloating and that the symptoms had been intermittent for over 6 months. The patient had lost 7 lb in the past 2 months. Abdominal exam revealed a soft, flat abdomen with...

Laboratory Diagnosis

Laboratory evaluation of patients suspected of von Willebrand disease relies on a panel of functional and immunologic tests, often performed on more than one occasion. Initial testing should include determination of plasma FVIII activity (method described in Case 61), von Willebrand factor antigen concentration, and platelet adhesion activity. In the absence of a definite family history of vWD, these specific tests may be preceded by performing a platelet count and global screening test of...

Precipitating Factors

In many patients with AMI, no precipitating factor can be identified. Studies have noted the following patient activities at the onset of AMI modest, heavy, or usual physical exertion, surgical procedure, rest, and sleep. If and when these activities trigger an infarction, the window of risk is often brief, usually only an hour or two. The severe exertion that preceded an infarction was often performed at times when the patient was fatigued or emotionally stressed. There are causes of...

Definition of the Disease

Pheochromocytoma is a tumor of neuroectodermal origin arising from chromaffin cells. In these tumors, catecholamine synthesis is elevated and degradation is decreased, leading to an excess of epinephrine and or norepinephrine. These hormones are then released into the circulation, causing symptoms and signs that include headaches, palpitations, diaphoresis (the classic triad), hypertension, anxiety, tremor, angina, nausea, Raynaud's phenomenon, and livedo reticularis. Of all pheochromocytomas,...

Definition of Disease13

Wilson's disease, also called hepatolenticular degeneration, is a rare autosomal recessive disorder of copper metabolism due to mutations in the ATP7B gene, which encodes a copper-transporting P-type ATPase expressed in hepatocytes. Over 200 mutations have been described, and most patients seen in the United States are compound heterozygotes. The incidence of Wilson's disease is estimated to be only 0.5-3 per 100,000. But the disease is invariably fatal unless the patient is identified and...

A 46Year Old Female with a Painful Swollen Right Calf

Freeman, and Barbara A. Zehnbauer A 46-year-old obese Caucasian woman presented to her general internist with recent onset of flushed skin and sweating. Over the previous 6 months she has noticed her hair thinning and complained of increasing irritability. She described occasional alcohol use and a 30-year history of 1 pack per day of tobacco use. The physician diagnosed early-onset menopause and discussed options for symptom management and prevention of...

Diagnosis

Chronic lymphocytic leukemia small lymphocytic lymphoma (CLL SLL) is an indolent monoclonal proliferation of mature lymphocytes, generally of B-cell lineage. It is a systemic disease and usually involves blood, lymph nodes, and bone marrow. The lymphocyte count is typically greater than 10 x 103 mL however, diagnosis is possible even with counts less than that if the morphology and immunophenotype are typical of CLL (see Fig. 52.1 and Table 52.1). When there is predominant blood involvement, it...

Differential Diagnosis of Hemostasis Disorders

Evaluation of a patient suspected of having a hemostatic defect begins with a detailed personal and family bleeding history. Positive responses to questions such as Do you bruise easily or bleed freely from minor cuts are nonspecific. Most adults have experienced some bleeding challenges, either physiologic (menstruation, labor, and delivery), accidental, or iatrogenic, and quantitative information about such events should be obtained. For example, if a patient states that she bled freely after...

Types of Hepatitis

The liver responds to any injury in three different ways (1) inflammation, generically called hepatitis, which can be of different nature (leukocytic, lymphocytic, plasmo a cytic, etc.) (2) cholestasis, which represents an impairment of the bile flow at any point from the sinusoidal membrane to the extrahepatic bile ducts and (3) a combination of both. Cholestasis can be caused by drugs, toxins, virus, and blockage of the biliary tree at any level and from multiple causes (stones, strictures,...

Woman with Uremia Pulmonary Infiltration and Hemoptysis

A 47-year-old white female developed severe nausea and vomiting 4 weeks prior to her current hospital admission. There had been no pain, but she had experienced a 7-lb (3.2-kg) weight loss. Her serum urea nitrogen was 40 mg dL (14.3 mmol urea L) and her creatinine 3.2 mg dL (283 mmol L). Urinalysis revealed numerous erythrocytes and granular casts, but an intravenous pyelogram (IVP) showed no structural abnormalities or obstruction. Five days later the creatinine rose to 6.8 mg dL (60 mmol L),...

Teenager with Pneumonia Leukopenia and Ecchymoses

The patient, a 15-year-old white male, presented to the emergency department of the university hospital because of weakness and a fever of 102 F (38.9 C). There was no prior history of illness. At the time of admission, the patient appeared pale and had tenderness over the sternum. There were ecchymoses over the anterior abdominal wall and right buttock. Blood pressure was 110 65 mm Hg, pulse 105 bpm and regular. Examination of the chest showed dullness over the right posterior lung fields....

Adult Male with New Onset Ascites

A 56-year-old white male presented with abdominal and ankle swelling of several months' duration. There was no history of chronic medical problems, except for impotence over the past 3-4 years for which he occasionally took sildenafil. The patient was on no other medications. He was a successful accountant, married with three children. He was a -pack day smoker and drank two or three beers each day. His father had been killed during World War II, and he had an uncle who died of liver cirrhosis...

Child with Pneumonia

A 12-year-old African-American male child was admitted to the hospital through the emergency room because of severe illness marked by high fever 103 F (39.6 C) and rapid, shallow breathing. Physical examination indicated consolidation of the left lower lung fields where no breath sounds could be auscultated. Examination of the abdomen revealed that the liver was enlarged, but the spleen could not be palpated. The patient had several healed scars and open sores on his ankles. Portable x-ray...

Diagnosis of Iron Overload

The first step in evaluating a patient suspected of iron overload is measurement of serum iron, transferrin saturation, and ferritin. Transferrin, a Bj globulin with two Fe3+ binding sites, is the plasma iron transport protein. Normally, transferrin saturation is about one-third, and total circulating iron is approximately 2.5 mg. Ferritin is a protein shell composed of 24 subunits, and is the intracellular storage site for Fe2+. Due to chronic leakage form cells, minute amounts of ferritin can...

Definition of Alcoholic Liver Disease

This case is classic for alcohol-induced cirrhosis with its three major complications ascites, portosystemic encephalopathy, and bleeding from esophageal varices. This patient suffered also from many of the other complications of persistent alcohol abuse acute alcoholic hepatitis, peripheral neuropathy, withdrawal syndrome, and spontaneous bacterial peritonitis. These manifestations in any patient further complicate management of the cirrhosis and darken the prognosis. Alcoholic liver disease...

Middle Aged Woman with Colles Fracture

A 59-year-old Caucasian female was referred to an endocrinologist following treatment for a fracture to her left wrist. She reports that the fracture occurred approximately 2 months earlier when she tripped on a rough sidewalk and fell while walking her dog. She is otherwise in good health. On physical examination, the patient is a 5-ft-tall, 94-lb middle-aged woman who describes herself as physically fit and in good health. She reports running 3-4 miles 3 times per week and participating in...

Chemistry and Hematologic Abnormalities in Chronic Kidney Disease

In contrast to acute renal failure (see Case 5), in which physical signs and symptoms related to fluid overload can be obvious, CKD develops insidiously and laboratory methods are essential for identifying the process so that interventions to arrest the decline in function can be made before frank uremia develops. The earliest change observable in the laboratory is usually urinary protein excretion. Increased serum creatinine and urea appear somewhat later, but can likely be detected in...

Woman with Abdominal Pain and Thrombocytopenia

A 42-year-old African-American woman developed dull crampy abdominal pain without accompanying nausea, fever, or diarrhea. Pain persisted over the next 4 days, and she noticed blurred vision and two bruises on her legs, although she did not recall ever falling or bumping into anything. When her symptoms did not improve, her sister brought her to the hospital. The patient worked as a nurse's aide, took no prescribed or over-the-counter medications, and did not acknowledge consumption of alcohol...

New Doctor for a Man with Diabetes and Hypertension

A recently retired 65-year-old African-American man with a 10-year history of type 2 diabetes mellitus (DM) moved to a new city to be near his grandchildren. He presented to his new primary care physician's office for routine evaluation. Over the preceding 12 months he had been making efforts to increase his physical activity with a daily 30-minute brisk walk. He had received extensive instruction regarding an optimal diet for diabetes, but he admitted to frequent indiscretions. He produced a...

Diabetic Womans Episode

A 55-year-old woman with a 4-year history of type 2 diabetes mellitus was brought to the hospital emergency department (ED) by ambulance at 1 30 pm after she was found unconscious at home. At the scene her blood glucose concentration (measured on capillary blood with a portable glucose meter) was 17 mg dL (0.9 mmol L). She was given 50 mL of 50 dextrose (D50) intravenously in the ambulance before arrival at the ED and immediately awoke. In the ED she stated that she took her regular morning...

Contributors

Staff Pathologist, Veterans Affairs Medical Center Assistant Professor, State University of New York, Upstate Medical University, Syracuse, NY Case 52, A Man with Anemia and Lymphocytosis Case 59, A Woman with Fatigue and Pallor Kenneth B. Ain, M.D. Assistant Professor of Medicine, Division of Endocrinology and Metabolism, Department of Medicine, University of Kentucky Medical Center Veterans Administration Medical Center, Lexington, KY Case 18, The Fatigued...

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...

Male with Confusing hCG Results

The laboratory was called to explain an apparent inconsistency in the test results for a 40-year-old male with new-onset ascites. He had no history of liver disease, and liver function tests were within normal limits. Exploratory laparotomy revealed a poorly differentiated carcinoma. Values were as follows aReference intervals for males and nonpregnant females. aReference intervals for males and nonpregnant females. In discussion with the patient's physician, it was revealed that a high...

Young Man with Edema and Decreased Urine Output

A 19-year-old man presented to the hospital complaining of swelling of his ankles, abdomen, and eyelids for the past 4 days. He had been in good health until several months ago when he noted a bloated sensation after eating. He also thought that he had gained weight recently, noting that his jeans seemed tighter. Four days before presentation, he experienced headaches and mild abdominal pain. At bedtime, there were depressions in his legs from the elastic in his socks. In the morning his legs...

Laboratory Diagnosis of Spherocytosis

As spherocytes on the peripheral smear are not always easily detectable in patients with mild HS, and as other laboratory features of hemolytic anemia may be nonspecific, additional testing may be helpful 1. The mean cell hemoglobin concentration (MCHC), provided with the other red cells indices on an automated CBC report, is typically elevated in patients with HS because of loss of intracellular electrolytes and water. 2. The increased osmotic fragility of spherocytes can be quantitated. The...

Increasing Abdominal Girth

Gibb A 59-year-old woman, gravida 2 para 1 presented to her primary care physician with a 2-month history of abdominal bloating, early satiety, and increasing abdominal girth. She has a medical history significant only for essential hypertension and depression that have been responding well to medications. She has been postmenopausal for 7 years and has not been on hormone replacement therapy. Prior to menopause she used the copper-T intrauterine device (IUD)...

Metabolic Acidosis of Unknown Origin Among Burn Patients

A 33-year-old man was brought to the emergency department after being dragged by fire-fighters from his home during a house fire, where he sustained 56 body surface area second- and third-degree burns. The burns involved primarily his extremities, back, and posterior head. CT scanning showed no evidence of other trauma. He had no significant past medical history, and toxicology testing on admission was negative for alcohol or other drugs. Initial laboratory tests, including a chemistry panel,...

Differential Diagnosis and Screening

While the most common cause of hypokalemia in the patient with hypertension is the use of thiazide diuretics, the presence of unprovoked hypokalemia is a valuable clue to the diagnosis of PAL, but is lacking in most cases. Recent studies that have used the aldosterone renin ratio (rather than relying on plasma potassium concentrations) to screen for PAL among hypertensive populations have shown that most patients with this condition (including the patient described here) are normokalemic, and...

Differential Diagnosis of Hypocalcemia

Probably the most common cause of hypocalcemia in hospitalized patients is due to hypo-albuminemia following surgery and fluid replacement. In this setting the total calcium will decrease by 0.8 mg dL for every 1-mg dL decrease in albumin. Even though the total blood calcium in these patients is low, they will not show symptoms of hypocalcemia because the free ionized calcium concentrations will be normal. In these patients the presence of a true hypocalcemia can be determined only by measuring...

Nonalcoholic Fatty Liver Disease NAFLD

Nonalcoholic fatty liver disease (NAFLD) is a spectrum of histological changes in the liver in patients who drink < 20-30 g of alcohol per day, ranging from simple fatty infiltration (steatosis) to a pattern of injury characterized by inflammation, hepatocyte degeneration, and fibrosis, known as nonalcoholic steatohepatitis (NASH), and to frank cirrhosis. The histological changes in NAFLD are indistinguishable from those observed in alcoholic liver disease. Although the quantity of alcohol...

Obese Woman with Persistently Abnormal Liver Enzymes

A 58-year-old Caucasian woman with type 2 diabetes was sent for evaluation to the hepatology clinic with persistent elevation of liver enzymes and complaints of fatigue, dull right upper quadrant abdominal pain, nausea without vomiting, and mild leg swelling for the past 3-4 months. From routine laboratory data 3-4 years ago the patient was found to have mildly elevated liver enzymes, which was attributed to a lipid-lowering agent (niacin), which was stopped at that time. Since then she has not...

Contents

A 45-Year-Old Man with Substantial Case 6. Oliguria with Metabolic Acidosis after Renal Transplantation 41 Case 7. A Woman with Uremia, Pulmonary Infiltration, and Hemoptysis 49 Case 4. Genotype-Phenotype Correlations in Cystic Fibrosis 25 Latisha Love-Gregory, Barbara Zehnbauer, and Dennis Dietzen Kevin J. Martin and Esther A. Gonzalez Case 5. Man with Hypertension and Fever Case 12. Adolescent Female with Tremor, Depression, 33 and Hepatitis Case 13. Adult Male with New-Onset Case 23....

Pathogenesis

PTH is an 84-amino-acid, linear polypeptide, secreted by the parathyroid glands, which acts through a G-protein-coupled receptor (PTHR) located on renal tubular cells and osteoblasts.3 This hormone regulates bone and mineral ion homeostasis but also is centrally responsible for the osteodystrophy of primary and secondary hyperparathyroidism including chronic renal insufficiency. Only the most N-terminal portion, not the entire hormone, is required for PTH receptor activation and is therefore...

Laboratory Investigation of SIADH

Hyponatremia Investigation

A first step in documenting hyponatremia is to confirm that it is truly a pathologic hypona-tremia by ruling out conditions causing pseudohyponatremia by the electrolyte exclusion effect. If osmolality is normal in the setting of hyponatremia this must be considered. Pseudohyponatremia occurs when the nonaqueous volume of plasma is markedly increased, usually as a result of severe hyperlipidemia or a high concentration of paraprotein, either of which excludes electrolytes from a portion of the...

Recent Weight Loss and Polyuria in a 52Year Old

A 52-year-old man with a history of hypertriglyceridemia and a recent toenail infection came to his primary care physician's office complaining of recent onset of nocturia, polyuria, and a 10-lb weight loss. His family history revealed that his father had developed diabetes mellitus at age 60. A limited physical examination revealed normal vital signs, normal fundi (by ophthalmoscopy), and no detectable peripheral neuropathy. Laboratory data at initial visit were as follows The markedly...

Did It Just OnceA 37Year Old Man with Hepatitis C

This 37-year-old white male, a native of Appalachia, worked as a banker and was married with two children. He had no significant past medical history. The bank closed the local branch and laid him off while transferring others. He could not find a job despite multiple efforts and interviews. He started frequenting bars and became acquainted with a group of people who used drugs. After much insistence from his peers, he decided to try a dose of intravenous cocaine. A partner injected him with a...

Screening Utility of MDRD Equation

It is hoped that the power of the MDRD equation or any other estimate of GFR will be in earlier identification of renal disease. Because of the morbidity associated with the development of CKD and the relative irreversibility of the process once it has progressed to ESRD, there is an impetus to identify asymptomatic patients that may not be identified by routine serum creatinine values. For this reason, the MDRD equation has been put forward as a means to identify asymptomatic patients with...

References

Angelman syndrome A review of the clinical and genetic aspects. J. Med. Genet. 40 87-95, 2003. 2. Cassidy, S. B., Dykens, E., and Williams, C. A. Prader-Willi and Angelman syndromes Sister imprinted disorders. Am. J. Med. Genet. (Semin. Med. Genet.) 97 136-46, 2000. 3. Goldstone, A. P. Prader-Willi syndrome Advances in genetics, pathophysiology and treatment. Trends Endocrin. Metab. 15 12-20, 2000. 4. Malzac, P. et al. Mutation analysis of UBE3A in Angelman...

Specificity of Warm Autoimmune Antibodies

Warm autoimmune antibody specificity is complex. The autoantibodies found in the serum and those eluted from cells usually react with all commercial red cells tested, thus appearing to be non-specific. Almost 50 , however, have specificity for epitopes located on the Rh protein, as in our patient, whose antibody specificity appeared to be specific for Rh C antigen. However, the autoantibody could be absorbed from the patient's serum using C negative red cells, confirming that it recognized an...

A 45Year Old Man with Substantial Chest Pain

The subject is a 45-year-old African-American male who presents with a chief complaint of substantial chest pain that radiated through his right arm and back. The pain awoke him from his sleep at approximately 3 30 am and was described as constant and as 8 out of 10. He also complained of nausea and shortness of breath. Over the past 2-3 months he stated that he had experienced similar symptoms that radiated through both arms. One month prior to admission, he visited his primary care internist,...

Middle Aged Alcoholic with Jaundice and Ascites

A 51-year-old white male came to the Emergency Department complaining of weakness, lack of appetite, shortness of breath, and abdominal distension. He was a known alcoholic who had failed detoxification programs several times in the past and continued to drink approximately one pint of vodka or gin per day. Eight months before presentation he had been admitted to another hospital with alcoholic hepatitis and at that time had suffered severe withdrawal symptoms. Soon after discharge, however, he...

Treatment

The treatment of chronic obstructive pulmonary disease (COPD) due to chronic bronchitis and emphysema is both preventive and therapeutic. The most essential aspect of preventive treatment is cessation of exposure to cigarette smoke patients are very strongly encouraged to avoid all cigarette smoke, although successful cessation occurs in less than 25 of patients, due to the addictive effect of nicotine. Therapeutic treatment consists of measures to improve airway function, prevent or treat...

Discussion

Chronic bronchitis usually results from chronic cigarette smoke exposure. The mucous glands of the airway enlarge and increase in number the mucous membranes become inflamed from prolonged irritation. These processes are first noted in the small (> 2-mm-diameter) airways but ultimately affect the entire bronchial tree. Thus, narrowed airways increase resistance to airflow. Emphysema is defined as dilation and destruction of the gas-exchanging portions of the lung. This effect again is most...

Comments

An elevated hematocrit suggested polycythemia that was likely caused by the chronic hypoxemia. The total leukocyte count was increased, with a left shift (increased band forms and polymorphonuclear neutrophils) suggesting a pulmonary infection. Decreased serum potassium was probably related to the use of the diuretic drug furosemide. The sputum revealed many Gram-negative coccobacilli, suggesting that the patient had a bronchitis caused by Haemophilus influenzae. In patients with chronic...

Shortness of Breath with Productive Cough

A 61-year-old man was admitted to the hospital for treatment of increasing shortness of breath, cough, and sputum production. The patient had neither a family history of pulmonary disease nor a known contact with anyone with tuberculosis. He started smoking cigarettes at the age of 17 and since then had smoked one pack per day. He had been drinking about one or two cans of beer per week. He gave a history of having developed a noticeable cough during the past 10-15 years. This cough had been...

Laboratory Testing

The most commonly used screening test for the presence of transplacental hemorrhage is the erythrocyte rosette test. This test effectively demonstrates a small number of Rh+ cells in a Rh suspension. Maternal blood is mixed with anti-Rh antibody of human origin. If fetal red cells are present, these cells will become coated with the anti-Rh antibody. The sample is then washed, and indicator Rh+ cells are added. Visible rosettes are formed with several red cells clustered around each...

Definition of Porphyrias

The group of metabolic disorders collectively known as the porphyrias is a diverse group of diseases caused by defects in the heme synthetic pathway. A comprehensive review can Figure 70.1 Heme metabolic pathway. Substrates are shown in bold letters and enzymes in italics. In all three acute hepatic porphyrias (AIP, VP, and HCP) there is inappropriate induction of ALA synthase. The enzyme deficiencies for each porphyria are as follows acute intermittent porphyria (AIP) PBG deaminase congenital...

Man with Colitis and Pancytopenia

A 32-year-old Caucasian male presented to the emergency department with complaints of bloody diarrhea 20 times per day and dehydration. A CBC was notable for anemia with normal white blood cell and platelet counts. Past medical history was significant for Crohn's disease diagnosed at age 20 involving the small and large intestines. He underwent ileocecal resection, and had been asymptomatic and required no therapy for the past 5 years. During his 2-day hospital course, anemia and dehydration...

Young Girl with a Bloody Knee Effusion

A 2-year-old girl was seen at a university hospital for a swollen left knee. The knee was tender, and the child was tearful and had refused to walk over the last 48 hours. x-Ray studies revealed an opaque effusion. The knee was aspirated and frank blood returned. The child had an extensive history of unexplained bruising and prolonged excessive bleeding with mouth trauma. The following laboratory results were reported Based on a factor VIII activity of 4 and a normal von Willebrand factor (vWF)...

Role of Personalized Medicine in Therapeutic Drug Dosing

In this patient reversible CsA-induced renal toxicity was noted on biopsy and was suggested by slightly increasing creatinine values and higher than therapeutic CsA trough concentrations. The higher CsA concentration were somewhat unexpected as the patient was given standard CsA dosing in the early days posttransplant. Even before results of his CYP3A genotyping were known, the appropriate therapeutic drug monitoring (TDM) and change in CsA dosing was done, which likely prevented any permanent...

Differential Diagnosis of Erythrocytosis and Thrombocytosis

Causes of erythrocytosis and thrombocytosis are reviewed in Tables 56.1 and 56.2. Congenital erythrocytosis is extremely rare. Various mutations that disable the negative regulatory domain of the erythropoietin (EPO) receptor have been identified in autosomal dominantly inherited familial erythrocytosis. Congenital erythrocytosis may also result Table 56.1 Classification of Erythrocytosis EPO receptor hypersensitivity Hypoxia sensor hypersensitivity Acquired Appropriate (chronic tissue hypoxia)...

A 10Year Old Boy with Pain Induced Seizures

Rogol, and David E. Bruns A 10-year-old male with a history of learning disabilities, developmental delay, and attention deficit hyperactivity disorder (ADHD) suffered a nonfebrile seizure after he hit his knee while getting into the shower. The patient had no prior history of seizure, but his mother had experienced multiple pain-induced seizures. The patient was in no apparent distress and his respiration, pulse, and blood pressure were normal. He denied headaches or...

Treatment of PCT and HH

In general, all patients with PCT should have their underlying disease treated (HCV, HIV), and should avoid precipitating factors such as alcohol, medications drugs, and iron supplementation. Avoidance of excess sunlight is advised until clinical remission is achieved. Phlebotomy remains a primary treatment, even in cases in which the serum iron or ferritin is not necessarily elevated. Urine porphyrins should be monitored until biologic remission is achieved, typically within a 6-month period...

The Wheezing Woodsman

A 29-year-old man presented to his physician with a history of mild asthma since childhood. His asthma had been managed with periodic use of an albuterol inhaler. He had never required admission to a hospital because of wheezing. He had a chronic morning cough. His asthmatic symptoms worsened after he moved to a very old log-cabin house in a wooded area, 8 months ago. Four months prior to admission he reported chest pain and shortness of breath, particularly after working in his yard and laying...

Worsening Diarrhea in a 5Year Old Girl

A 5-year-old girl was brought to her physician for worsening of diarrhea. She was having about six to seven bowel movements of foul-smelling stools per day. The diarrhea seemed to worsen with ingestion of fatty food. The mother described that since infancy, her daughter had failure to thrive, chronic diarrhea, and malabsorption. She was tentatively diagnosed with celiac disease at 18 months of age without a biopsy. A gluten-free diet was started but did not appear to relieve her diarrhea. There...

Prevalence Detection and Prevention

Because there is no standard assay to test for them, the actual prevalence of heterophile antibodies and HAAA in clinical specimens is not known, although it is probably quite high.9 For example, the prevalence of HAMA in three separate populations of blood donors ranged from 9 to 80 .10-12 Fortunately, few of these antibodies cause interference. One study reported that 8.7 of 3445 immunoassay results from 10 specimens with heterophile antibodies were falsely positive, with 6 of results being...

Disseminated Intravascular Coagulation DIC and APL

Dissseminated intravascular coagulation is not a disease or a symptom but a syndrome, which is always secondary to an underlying disorder. The syndrome is characterized by a systemic activation of the blood coagulation system, which results in the generation and deposition of fibrin, leading to microvascular thrombi in various organs and the development of multiorgan failure. Consumption and subsequent exhaustion of coagulation proteins and platelets because of the ongoing activation of the...

Pathophysiology

Prostate cancer develops when the rates of cell division and cell death are no longer equal, leading to uncontrolled tumor growth. Mutations of a multitude of genes, including the genes for p53 and retinoblastoma, can lead to tumor progression and metastasis. In approximately 10 of cases, the development of prostate cancer has been linked to prostate cancer susceptibility genes. The results of a genomewide scan of 91 high-risk prostate cancer families from the United States and Sweden suggested...

Paroxysmal Cold Hemoglobinuria

Paroxysmal cold hemoglobinuria (PCH) is the least common type of autoimmune hemo-lytic anemia. It is a cold-autoantibody-mediated hemolytic disease originally associated with tertiary syphilis. With the improvements in antibiotic therapy, the incidence of tertiary syphilis and, subsequently, PCH has dramatically decreased, making both diseases rare these days. PCH is now more likely to occur in children in association with various viral illnesses, including mumps, measles, and flulike...

Baby with Petechiae and Bruises

A well-appearing, term infant was born by vaginal delivery to a healthy 27-year-old mother with a benign prenatal and postpartum course. Within an hour of birth he developed generalized petechiae and bruising over his trunk and left arm. His CBC was normal for a term newborn WBC 10 x 103 mL, hemoglobin 18.4 g dL, and platelets 173 x 103 mL. An extensive evaluation for sepsis was begun, and he was treated empirically with antibiotics and an antiviral agent until cultures of spinal fluid, urine,...

The Fatigued Attorney

A 28-year-old attorney reported for her yearly physical examination complaining of tiredness, difficulty concentrating on her work, and a noticeable decline in her memory over the past several months. She attributed many of these symptoms to the severe stress generated by her legal caseload. Further questioning by her physician revealed that the frequency of her bowel movements had decreased from once daily, 6 months ago, to once every 2 or 3 days. She was having difficulty keeping her weight...

Man with Progressive Effort Intolerance and Splenomegaly

Patnaik and Ayalew Tefferi A 56-year-old male presented to the clinic with complaints of progressive effort intolerance, which he noted over the last 6 months, associated with early satiety and sensation of fullness in the left upper quadrant of his abdomen. A clinical exam revealed the presence of pallor, sternal tenderness, and massive splenomegaly. The spleen was firm and was felt 8 cm below the left costal margin. The liver span was increased up to 16 cm and the liver was felt 2...

Pernicious Anemia PA

Pernicious anemia is a type of megaloblastic anemia caused by cyanocobalamin, or vitamin B12, deficiency, and much of the time is attributable to an autoimmune chronic gastritis. The autoimmune gastritis causes atrophy and destruction of the gastric mucosal oxyntic (parietal) cells, which secrete hydrochloric acid and intrinsic factor (IF a glycoprotein with a high affinity for cbl) into the gastric fluid. IF is required for normal absorption of cbl in the ileum, and the loss of IF secretion...

Gadolinium

Gadolinium, a lanthanide ion, is routinely administered intravenously as a contrast agent in magnetic resonance imaging examinations. Currently, there are four available gadolinium-based contrast agents on the U.S. market gadodiamide (Omniscan Amer-sham Health), gadopentetate dimeglumine (Magnevist Schering), gadoversetamide (Opti-MARK Mallinckrodt Medical), and gadoteridol (Prohance Bracco). In April 2002, the manufacturers of Omniscan issued a change in product labeling to state that Omniscan...

Definition of Chronic Kidney Disease

Chronic kidney disease (CKD also chronic renal failure or chronic renal insufficiency) is broadly defined as a decrease in renal function that precedes end-stage renal disease (ESRD). ESRD is a diagnosis that implies dependence on renal replacement therapy in the form of either dialysis or transplantation. The pathophysiology of the disorder is related to the irreversible loss of nephron units caused by a wide array of insults, with diabetes and hypertension as the most common etiologies in...

Nephritic Syndrome

This patient's case presents the problem of rapidly deteriorating renal function, terminating in uremia with coexistent pulmonary hemorrhage and hemoptysis. The presence of erythrocytes in the urine indicated hemorrhage into the urinary tract. Whereas hemorrhage may occur at any point from the glomerulus to the urethra, the presence of erythrocyte casts localizes the process within the kidney, most likely high in the nephron. Additional evidence of reduced glomerular filtration rate (GFR),...

Laboratory Investigation

Now that the framework for qualitative and quantitative hCG assays has been described, it is possible to investigate the apparent discrepancies in this case. Consideration should be given to the following 1. Why is there a discrepancy between the quantitative and qualitative measurements b. False negative on the qualitative device c. False positive on the quantitative devices d. Presence of free b (not intact)-hCG 2. Why do the two quantitative test results differ a. Heterophile antibody...

Differential Diagnosis of Hyponatremia

Hyponatremia, one of the more common fluid and electrolyte disturbances, can be the result of multiple causes and is highly prevalent in critically ill patients.2,3 It is defined as a serum sodium concentration of less than 135 mmol L. Conceptually, hyponatremia can be classified into dilutional and depletional causes. Dilutional hyponatremia is the result of increased extracellular fluid (ECF) in the presence of normal or an increased total body sodium (Na+) that is less than the increase in...

Diagnostic Testing

Positive screening tests may suggest the presence of Cushing syndrome, but further testing is needed. Various conditions such as alcoholism, obesity, and depression are well recognized causes of pseudo-Cushing syndrome where there is basal hypercortisolism in the absence of true Cushing syndrome (e.g., in pseudo-Cushing syndrome cortisol suppression typically occurs in response to low dose dexamethasone see discussion below). The formal dexamethasone suppression test is carried out in three...

Case of Mixed Club Drugs Abuse

Gock, Run-Zhang Shi, Jeffrey M. Jentzen, and Steven H. Wong The decedent was a 24-year-old white female with no known significant medical history other than occasional alcohol and marijuana use. She had driven from another state with several friends to attend the Grateful Dead concert at a popular outdoor concert venue in Wisconsin. According to friends, she had remained sober throughout the concert and drove the group to a hotel where they checked in during the early morning hours...

MDRD Equation for GFR

The Modification of Diet in Renal Disease Study (MDRD) was a randomized, multicenter clinical trial that followed the effects of three different amounts of dietary protein and phosphorus intake and two different doses of blood pressure control on the rate of loss of kidney function in persons with various chronic kidney diseases. All patients in this study had GFR determined by 125I-iothalamate clearance to monitor their renal function.5 Within this study, new equations for GFR were developed...

Laboratory Diagnosis of Qualitative Platelet Disorders

Von Willebrand Screen Test

Laboratory analysis of patients with apparent bleeding problems utilizes initial testing of the cellular and fluid-phase components of hemostasis, followed by more specialized testing of the suspected problematic aspect (Fig. 64.2). A platelet count will identify patients with a quantitative platelet defect, although one must remember that some qualitative defects are associated with lower platelet counts as well (Table 64.1). The possibility of coagulation factor inhibitors and deficiencies...

Child with Rapid Growth and Precocious Sexual Maturation

A 6-year-old boy was admitted to the medical center with a 4-year history of rapid somatic growth and a 6-month history of pubic hair growth. The patient was the full-term product of a normal vaginal delivery following an uncomplicated first gestation in a 34-year-old healthy female. Birth weight was 8 lb 9 oz (3.9 kg) and length 21.5 in. (54.6 cm). There were no neonatal problems. The mother ceased breastfeeding the infant at 10 days of life and changed to formula because he did not seem to...

Personalized Medicine for Pain Management

Bratanow A 48-year-old white male presented to the pain management clinic with a history of chronic sinus pain. The pain was a result of severe chronic frontal sinusitis that was refractory to medical management, including three previous endoscopic sinus surgeries and frontal sinusotomy. Chronic sinusitis is one of the most prevalent chronic illnesses that can affect people of all age groups. In the United States, chronic sinusitis affects approximately 32 million...

Differential Diagnosis of Metabolic Acidoses

Metabolic acidosis can be caused by a variety of processes and is produced by three major mechanisms increased acid generation, loss of bicarbonate, and diminished acid excretion. In health, the anion gap largely reflects the negative charges on albumin and other plasma proteins. However, a fall in unmeasured cations or an increase in unmeasured anions will increase the anion gap. Depending on the mechanism underlying the acidosis, the anion gap can be normal or elevated in a metabolic...

Adolescent Female with Tremor Depression and Hepatitis

A 16-year-old white female presented to her pediatrician with tremor and depression. Approximately 8 months previously, her mother noted a mild lack of muscle coordination, which slowly progressed. As a result, the patient failed to be reelected as a school cheerleader just one month prior to presentation. A depressed affect with fatigue and malaise had developed and was thought to be secondary to this failure. However, when a tremor was noted along with mild dysarthria, the patient's mother...

Pathophysiology of Porphyria Cutanea Tarda

Porphyrins share the property of absorption of light at 400-410 nm wavelength. When exposed to light in this spectrum, they exhibit orange-red fluorescence of 550-650 nm.2 In the forms of porphyria with skin lesions, absorption of light at the skin surface results in the production of reactive oxygen species, with a subsequent inflammatory response, and ensuing damage to the basement membrane and dermis by activation of metalloproteinases.3 The result is porphyrin accumulation in the skin. Iron...