ITEMS IN AFP WITH MESH TERM:
ABSTRACT: Apparent life-threatening event syndrome predominantly affects children younger than one year. This syndrome is characterized by a frightening constellation of symptoms in which the child exhibits some combination of apnea, change in color, change in muscle tone, coughing, or gagging. Approximately 50 percent of these children are diagnosed with an underlying condition that explains the apparent life-threatening event. Commonly, the problems are digestive (up to 50 percent), neurologic (30 percent), respiratory (20 percent), cardiac (5 percent), and endocrine or metabolic (less than 5 percent). Fifty percent of these events are idiopathic, which causes great concern to parents and physicians. The evaluation of an affected infant involves a thorough description of the event as well as prenatal, birth, medical, social, and family history. The physical examination, including careful neurologic examination and notation of any apparent anatomic abnormalities, helps diagnose congenital problems, infection, and conditions contributing to respiratory compromise. The laboratory evaluation is driven by historical and physical findings. Inpatient evaluation and monitoring are recommended in virtually all cases unless investigations are normal. Should the history reflect a severe episode, or should the child require major interventions such as cardiopulmonary resuscitation, inpatient observation and monitoring are recommended, even if physical examination and laboratory findings are normal. Once a presumptive diagnosis is made, events should cease after appropriate intervention. If not, reviewing the history, performing another physical examination, and reassessing the need for laboratory and imaging studies are the next steps. Although consensus statements by the National Institutes of Health and the American Academy of Pediatrics support home monitoring, the relationship of apparent life-threatening event syndrome to sudden infant death syndrome is controversial.
ABSTRACT: Group B streptococcus (GBS) is a leading cause of morbidity and mortality among newborns. Universal screening for GBS among women at 35 to 37 weeks of gestation is more effective than administration of intrapartum antibiotics based on risk factors. Lower vaginal and rectal cultures for GBS are collected at 35 to 37 weeks of gestation, and routine dindamycin and erythromycin susceptibility testing is performed in women allergic to penicillin. Women with GBS bacteriuria in the current pregnancy and those who previously delivered a GBS-septic newborn are not screened but automatically receive intrapartum antibiotics. Intrapartum chemoprophylaxis is selected based on maternal allergy history and susceptibility of GBS isolates. Intravenous penicillin G is the preferred antibiotic, with ampicillin as an alternative. Penicillin G should be administered at least four hours before delivery for maximum effectiveness. Cefazolin is recommended in women allergic to penicillin who are at low risk of anaphylaxis. Clindamycin and erythromycin are options for women at high risk for anaphylaxis, and vancomycin should be used in women allergic to penicillin and whose cultures indicate resistance to clindamycin and erytbromycin or when susceptibility is unknown. Asymptomatic neonates born to GBS-colonized mothers should be observed for at least 24 hours for signs of sepsis. Newborns who appear septic should have diagnostic work-up including blood culture followed by initiation of ampicillin and gentamicin. Studies indicate that intrapartum prophylaxis of GBS carriers and selective administration of antibiotics to newborns reduce neonatal GBS sepsis by as much as 80 to 95 percent.
ABSTRACT: Glucose-6-phosphate dehydrogenase deficiency, the most common enzyme deficiency worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis. Persons with this condition also may be asymptomatic. This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean, or Middle-Eastern descent. Approximately 400 million people are affected worldwide. Homozygotes and heterozygotes can be symptomatic, although the disease typically is more severe in persons who are homozygous for the deficiency. The conversion of nicotinamide adenine dinucleotide phosphate to its reduced form in erythrocytes is the basis of diagnostic testing for the deficiency. This usually is done by fluorescent spot test. Different gene mutations cause different levels of enzyme deficiency, with classes assigned to various degrees of deficiency and disease manifestation. Because acute hemolysis is caused by exposure to an oxidative stressor in the form of an infection, oxidative drug, or fava beans, treatment is geared toward avoidance of these and other stressors. Acute hemolysis is self-limited, but in rare instances it can be severe enough to warrant a blood transfusion. Neonatal hyperbilirubinemia may require treatment with phototherapy or exchange transfusion to prevent kernicterus. The variant that causes chronic hemolysis is uncommon because it is related to sporadic gene mutation rather than the more common inherited gene mutation.
ABSTRACT: Physicians should use a checklist to facilitate discussions with new parents before discharging their healthy newborn from the hospital. The checklist should include information on breastfeeding, warning signs of illness, and ways to keep the child healthy and safe. Physicians can encourage breastfeeding by giving parents written information on hunger and feeding indicators, stool and urine patterns, and proper breastfeeding techniques. Physicians also should emphasize that infants should never be given honey or bottles of water before they are one year of age. Parents should be advised of treatments for common infant complaints such as constipation, be aware of signs and symptoms of more serious illnesses such as jaundice and lethargy, and know how to properly care for the umbilical cord and genital areas. Physicians should provide guidance on how to keep the baby safe in the crib (e.g., placing the baby on his or her back) and in the car (e.g., using a car seat that faces the rear of the car). It is also important to schedule a follow-up appointment for the infant.
Developmental Dysplasia of the Hip - Article
ABSTRACT: Developmental dysplasia of the hip refers to a continuum of abnormalities in the immature hip that can range from subtle dysplasia to dislocation. The identification of risk factors, including breech presentation and family history, should heighten a physician's suspicion of developmental dysplasia of the hip. Diagnosis is made by physical examination. Palpable hip instability, unequal leg lengths, and asymmetric thigh skinfolds may be present in newborns with a hip dislocation, whereas gait abnormalities and limited hip abduction are more common in older children. The role of ultrasonography is controversial, but it generally is used to confirm diagnosis and assess hip development once treatment is initiated. Bracing is first-line treatment in children younger than six months. Surgery is an option for children in whom nonoperative treatment has failed and in children diagnosed after six months of age. It is important to diagnose developmental dysplasia of the hip early to improve treatment results and to decrease the risk of complications.
ABSTRACT: Chlamydia trachomatis infection most commonly affects the urogenital tract. In men, the infection usually is symptomatic, with dysuria and a discharge from the penis. Untreated chlamydial infection in men can spread to the epididymis. Most women with chlamydial infection have minimal or no symptoms, but some develop pelvic inflammatory disease. Chlamydial infection in newborns can cause ophthalmia neonatorum. Chlamydial pneumonia can occur at one to three months of age, manifesting as a protracted onset of staccato cough, usually without wheezing or fever. Treatment options for uncomplicated urogenital infections include a single 1-g dose of azithromycin orally, or doxycycline at a dosage of 100 mg orally twice per day for seven days. The recommended treatment during pregnancy is erythromycin base or amoxicillin. The Centers for Disease Control and Prevention and the U.S. Preventive Services Task Force recommend screening for chlamydial infection in women at increased risk of infection and in all women younger than 25 years.
ABSTRACT: Hirschsprung's disease (congenital megacolon) is caused by the failed migration of colonic ganglion cells during gestation. Varying lengths of the distal colon are unable to relax, causing functional colonic obstruction. Hirschsprung's disease most commonly involves the rectosigmoid region of the colon but can affect the entire colon and, rarely, the small intestine. The disease usually presents in infancy, although some patients present with persistent, severe constipation later in life. Symptoms in infants include difficult bowel movements, poor feeding, poor weight gain, and progressive abdominal distention. Early diagnosis is important to prevent complications (e.g., enterocolitis, colonic rupture). A rectal suction biopsy can detect hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa, confirming the diagnosis. Up to one third of patients develop Hirschsprung's-associated enterocolitis, a significant cause of mortality. Patients should be monitored closely for enterocolitis for years after surgical treatment of Hirschsprung's disease. With proper treatment, most patients will not have long-term adverse effects and can live normally.
ABSTRACT: Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients.
Fetal Alcohol Spectrum Disorders - Article
ABSTRACT: To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. The second review in this series discusses fetal alcohol syndrome and fetal alcohol spectrum disorders.
Amblyopia - Article
ABSTRACT: Amblyopia, a decrease in visual acuity, is a major public health problem with a prevalence of 1 to 4 percent in the United States. It is thought to develop early in life during the critical period of visual development. Early recognition of amblyogenic risk factors such as strabismus, refractive errors, and anatomic obstructions can facilitate early treatment and increase the chance for recovery of visual acuity. Multiple medical organizations endorse screening for visual abnormalities in children and young adults, yet only 20 percent of school-age children have routine vision screening examinations. Any child with a visual acuity in either eye of 20/40 or worse at age three to five years or 20/30 or worse at age six years or older, or a two-line difference in acuity between eyes, should be referred to an ophthalmologist for further evaluation and definitive therapy. Treatment is started at the time of diagnosis and depends on the etiology. Treatment options for children with strabismus include patching and atropine drops. Children with refractive errors should be prescribed corrective lenses. Corneal lesions, cataracts, and ptosis require surgery. The success of therapy is highly dependent on treatment compliance. Patients and their parents should be educated about the need for regular follow-up and the risk of permanent vision loss.