Items in AFP with MESH term: Severity of Illness Index

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Congenital Adrenal Hyperplasia: Not Really a Zebra - Article

ABSTRACT: Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis. Both classic and nonclassic forms of the disease are caused by deficiencies in the adrenal enzymes that are used to synthesize glucocorticoids. The net result is increased production from the adrenal gland of cortisol precursors and androgens. Even mild congenital adrenal hyperplasia can result in life-threatening sinus or pulmonary infections, orthostatic syncope, shortened stature and severe acne. Women with mild congenital adrenal hyperplasia often present with hirsutism, oligomenorrhea or infertility. Congenital adrenal hyperplasia is diagnosed by demonstration of excess cortisol precursors in the serum during an adrenal corticotropic hormone challenge. Diagnosis of congenital adrenal hyerplasia in fetuses that are at risk for congenital adrenal hyperplasia can be determined using human leukocyte antigen haplotype or by demonstration of excess cortisol precursors in amniotic fluid. Treatment includes carefully monitored hormone replacement therapy. Recognition of the problem and timely replacement therapy can reduce morbidity and enhance quality of life in patients that are affected by congenital adrenal hyperplasia.


Gastroesophageal Reflux Disease: Diagnosis and Management - Article

ABSTRACT: Gastroesophageal reflux disease (GERD) is a chronic, relapsing condition with associated morbidity and an adverse impact on quality of life. The disease is common, with an estimated lifetime prevalence of 25 to 35 percent in the U.S. population. GERD can usually be diagnosed based on the clinical presentation alone. In some patients, however, the diagnosis may require endoscopy and, rarely, ambulatory pH monitoring. Management includes lifestyle modifications and pharmacologic therapy; refractory disease requires surgery. The therapeutic goals are to control symptoms, heal esophagitis and maintain remission so that morbidity is decreased and quality of life is improved.


Multiple Myeloma: Recognition and Management - Article

ABSTRACT: Multiple myeloma is the malignant proliferation of plasma cells involving more than 10 percent of the bone marrow. The multiple myeloma cell produces monoclonal immunoglobulins that may be identified on serum or urine protein electrophoresis. Bone pain related to multiple lytic lesions is the most common clinical presentation. However, up to 30 percent of patients are diagnosed incidentally while being evaluated for unrelated problems, and one third of patients are diagnosed after a pathologic fracture, commonly of the axial skeleton. Multiple myeloma must be differentiated from other causes of monoclonal gammopathy, including monoclonal gammopathy of undetermined significance, heavy chain disease, plasmacytoma and Waldenstrom macroglobulinemia. Chemotherapy with melphalan-prednisone is the standard treatment for multiple myeloma. Other treatment modalities include polychemotherapy and bone marrow transplantation. Only 50 to 60 percent of patients respond to therapy. The aggregate median survival for all stages of multiple myeloma is three years.


Caring for Infants with Congenital Heart Disease and Their Families - Article

ABSTRACT: Congenital heart defects are classified into two broad categories: acyanotic and cyanotic lesions. The most common acyanotic lesions are ventricular septal defect, atrial septal defect, atrioventricular canal, pulmonary stenosis, patent ductus arteriosus, aortic stenosis and coarctation of the aorta. Congestive heart failure is the primary concern in infants with acyanotic lesions. The most common cyanotic lesions are tetralogy of Fallot and transposition of the great arteries. In infants with cyanotic lesions, hypoxia is more of a problem than congestive heart failure. Suspicion of a congenital heart defect should be raised by the presence of feeding difficulties in association with tachypnea, sweating and subcostal recession, or severe growth impairment. Follow-up of infants with congenital heart disease should follow the schedule of routine care for healthy babies with some modifications, such as administration of influenza and pneumococcal vaccines. More frequent follow-up is required if congestive heart failure is present. Family psychosocial issues should also be addressed. One of the main roles for the family physician is to help the parents put the diagnosis in perspective by clarifying expectations and misconceptions, and answering specific questions.


Resolving the Common Clinical Dilemmas of Syphilis - Article

ABSTRACT: The diagnosis and treatment of syphilis can present difficult dilemmas. Serologic tests can be negative if they are performed at the stage when lesions are present, and the VDRL test can be negative in patients with late syphilis. Cerebrospinal fluid examination is not required in patients with primary or secondary disease and no neurologic signs or symptoms, but it may be warranted in patients with late latent syphilis or in whom the duration of infection is unknown. Patients with penicillin allergy can be treated with alternative regimens if they have primary or secondary syphilis. Penicillin is the only effective drug for neurosyphilis; oral desensitization should be accomplished before treatment of penicillin-allergic patients. Other dilemmas may be encountered in the treatment of patients who have concurrent human immunodeficiency virus infection.


Special Considerations in Interpreting Liver Function Tests - Article

ABSTRACT: A number of pitfalls can be encountered in the interpretation of common blood liver function tests. These tests can be normal in patients with chronic hepatitis or cirrhosis. The normal range for aminotransferase levels is slightly higher in males, nonwhites and obese persons. Severe alcoholic hepatitis is sometimes confused with cholecystitis or cholangitis. Conversely, patients who present soon after passing common bile duct stones can be misdiagnosed with acute hepatitis because aminotransferase levels often rise immediately, but alkaline phosphatase and gamma-glutamyltransferase levels do not become elevated for several days. Asymptomatic patients with isolated, mild elevation of either the unconjugated bilirubin or the gamma-glutamyltransferase value usually do not have liver disease and generally do not require extensive evaluation. Overall hepatic function can be assessed by applying the values for albumin, bilirubin and prothrombin time in the modified Child-Turcotte grading system.


Medical Treatments for Balding in Men - Article

ABSTRACT: Two drugs are available for the treatment of balding in men. Minoxidil, a topical product, is available without a prescription in two strengths. Finasteride is a prescription drug taken orally once daily. Both agents are modestly effective in maintaining (and sometimes regrowing) hair that is lost as a result of androgenic alopecia. The vertex of the scalp is the area that is most likely to respond to treatment, with little or no hair regrowth occurring on the anterior scalp or at the hairline. Side effects of these medications are minimal, making them suitable treatments for this benign but psychologically disruptive condition.


Outpatient Detoxification of the Addicted or Alcoholic Patient - Article

ABSTRACT: Outpatient detoxification of patients with alcohol or other drug addiction is being increasingly undertaken. This type of management is appropriate for patients in stage I or stage II of withdrawal who have no significant comorbid conditions and have a support person willing to monitor their progress. Adequate dosages of appropriate substitute medications are important for successful detoxification. In addition, comorbid psychiatric, personality and medical disorders must be managed, and social and environmental concerns need to be addressed. By providing supportive, nonjudgmental, yet assertive care, the family physician can facilitate the best possible chance for a patient's successful recovery.


Management of Acute Gastroenteritis in Children - Article

ABSTRACT: Acute gastroenteritis is a common and costly clinical problem in children. It is a largely self-limited disease with many etiologies. The evaluation of the child with acute gastroenteritis requires a careful history and a complete physical examination to uncover other illnesses with similar presentations. Minimal laboratory testing is generally required. Treatment is primarily supportive and is directed at preventing or treating dehydration. When possible, an age-appropriate diet and fluids should be continued. Oral rehydration therapy using a commercial pediatric oral rehydration solution is the preferred approach to mild or moderate dehydration. The traditional approach using "clear liquids" is inadequate. Severe dehydration requires the prompt restoration of intravascular volume through the intravenous administration of fluids followed by oral rehydration therapy. When rehydration is achieved, an age-appropriate diet should be promptly resumed. Antiemetic and antidiarrheal medications are generally not indicated and may contribute to complications. The use of antibiotics remains controversial.


A Primary Care Approach to the Patient with Claudication - Article

ABSTRACT: Peripheral arterial occlusive disease occurs in about 18 percent of persons over 70 years of age. Usually, patients who have this disease present with intermittent claudication with pain in the calf, thigh or buttock that is elicited by exertion and relieved with a few minutes of rest. The disease may also present in a subacute or acute fashion. Symptoms of ischemic rest pain, ulceration or gangrene may be present at the most advanced stage of the disease. In most cases, the underlying etiology is atherosclerotic disease of the arteries. In caring for these patients, the primary care physician should focus on evaluation, risk factor modification and exercise. The physician should consider referral to a vascular subspecialist when symptoms progress or are severe. While the prognosis for the affected limb is quite good, patients with peripheral arterial occlusive disease are at increased risk of myocardial infarction and stroke. Therefore, treatment measures should address overall vascular health.


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