Items in AFP with MESH term: Severity of Illness Index
ABSTRACT: Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is important because infants and children with Down syndrome are more likely to have otitis media, thyroid disease, congenital cataracts, leukemoid reactions, dental problems and feeding difficulties. Since infants with this syndrome are prone to respiratory infections, immunization recommendations should be followed closely. Motor, language, social and adaptive skills should be assessed at each office visit. The psychosocial aspects of care should be discussed with the parents of an infant with Down syndrome. If necessary, the parents should be referred to family support and specialty resources. Institutionalization of infants with Down syndrome is now unlikely. With newer surgical techniques, early therapy to minimize developmental delay and proper health supervision, the functional prognosis for infants with Down syndrome is considerably improved.
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.
Slipped Capital Femoral Epiphysis - Article
ABSTRACT: Slipped capital femoral epiphysis occurs during the adolescent growth spurt and is most frequent in obese children. Up to 40 percent of cases are bilateral. Recent classification methods emphasize epiphyseal stability rather than symptom duration. Most cases of slipped capital femoral epiphyses are stable and have a good prognosis if diagnosed early. Unstable slipped capital femoral epiphysis has a much poorer prognosis because of the high risk of avascular necrosis. Early radiographic clues are the metaphyseal blanch sign and Klein's line. Once diagnosed, treatment should begin immediately. The most widely accepted treatment for a stable slipped capital femoral epiphysis is in situ fixation with a single central screw. The treatment for an unstable slipped capital femoral epiphysis is much more controversial. Corrective osteotomy is usually reserved for treatment of severe deformities after the patient has stopped growing.
Sarcoidosis: A Primary Care Review - Article
ABSTRACT: Sarcoidosis is a multisystemic disorder of unknown etiology that most commonly affects adults between 20 and 40 years of age. Patients with sarcoidosis frequently present with bilateral hilar lymphadenopathy and pulmonary infiltration, and often with ocular and skin lesions. The diagnosis is established when clinical and radiographic findings are supported by histologic evidence of non-caseating epithelioid cell granulomas found on tissue biopsy. Diagnosis of sarcoidosis requires exclusion of other causes of granuloma formation. Sarcoidosis is also characterized by distinctive laboratory abnormalities, including hyperglobulinemia, an elevated serum angiotensin converting enzyme level, evidence of depressed cellular immunity manifested by cutaneous anergy and, occasionally, hypercalcemia and hypercalciuria. Glucocorticoids remain the mainstay of therapy when treatment is required, although other anti-inflammatory agents are being used increasingly often.
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.
ABSTRACT: The prevalence of childhood obesity in the United States has risen dramatically in the past several decades. Although 25 to 30 percent of children are affected, this condition is underdiagnosed and undertreated. Hormonal and genetic factors are rarely the cause of childhood obesity; unnecessary diagnostic evaluations can be avoided with a careful history and physical examination. Because obese children may suffer life-long physical and emotional consequences, it is imperative to discuss prevention with parents during well-child examinations. All obese children should be screened for cardiac risk factors, as well as for possible orthopedic, dermatologic and psychiatric sequelae. Treatment should be initiated when the trend in increasing weight obviously surpasses the trend in increasing height. Treatment plans should include reasonable weight-loss goals, dietary and physical activity management, behavior modification and family involvement, which may include weight loss in the parents. Anorexiant medications are not approved by the U.S. Food and Drug Administration for use in pediatric populations.
ABSTRACT: Asthma, a common chronic inflammatory disease of the airways, may be classified as mild intermittent or mild, moderate, or severe persistent. Patients with persistent asthma require medications that provide long-term control of their disease and medications that provide quick relief of symptoms. Medications for long-term control of asthma include inhaled corticosteroids, cromolyn, nedocromil, leukotriene modifiers and long-acting bronchodilators. Inhaled corticosteroids remain the most effective anti-inflammatory medications in the treatment of asthma. Quick-relief medications include short-acting beta2 agonists, anticholinergics and systemic corticosteroids. The frequent use of quick-relief medications indicates poor asthma control and the need for larger doses of medications that provide long-term control of asthma. New guidelines from the National Asthma Education and Prevention Program Expert Panel II recommend an aggressive "step-care" approach. In this approach, therapy is instituted at a step higher than the patient's current level of asthma severity, with a gradual "step down" in therapy once control is achieved.
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.
ABSTRACT: Gastroenteritis in children is a common reason for visits to family physicians. Most cases of gastroenteritis have a viral etiology and are self-limited. However, more severe or prolonged cases of gastroenteritis can result in dehydration with significant morbidity and mortality. This is often the scenario in third-world countries, where gastroenteritis results in 3 million deaths annually. A proper clinical evaluation will allow the physician to estimate the percentage of dehydration and determine appropriate therapy. In some situations, laboratory studies such as determination of blood urea nitrogen and serum electrolytes may be helpful. Stool studies are indicated if a child is having bloody diarrhea or if an unusual etiology is suspected, such as Escherichia coli O157:H7 or Cryptosporidium. Most children with gastroenteritis can be treated with physiologically balanced oral rehydration solutions. In children who are hypovolemic, lethargic and estimated to be more than 5 percent dehydrated, initial treatment with intravenous boluses of isotonic saline or Ringer's lactate may be required. Children with severe diarrhea need nutrition to restore digestive function and, generally, food should not be withheld.
ABSTRACT: Early identification of alcohol-related problems is important because these problems are prevalent, pose serious health risks to patients and their families, and are amenable to intervention. Physicians may be able to help patients change their drinking behaviors. The most effective tool for screening is a thorough history of the patient's drinking behavior, designed to identify patterns of alcohol-related difficulties with physical and mental health, family life, legal authorities and employment. Alcohol drinkers can be categorized as at-risk, problem or alcohol dependent, according to a protocol developed by the National Institute on Alcohol Abuse and Alcoholism. The severity of the alcohol problem and the patient's readiness to change should determine the intervention selected by the family physician.