Noonan syndrome. A review

Noonan syndrome (NS) is a rare genetic disorder, revealing autosomal dominant trait. It is a multiface condition that is characterized by a series congenital malformations including facial anomalies, postnatal growth retardation, webbing of the neck, pectus excavatum/carinatum, pulmonic stenosis and undescended testicles in boys. The incidence of NS is estimated to be between 1:1000 and 1:2500 in all live births. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. Signs and symptoms lessen with age and most adults with NS do not require special medical care.     

Problem-oriented record. A critical review.

After 10 years of experience using the problem-oriented record (POR), Weed proposed that both patient care and clinical education could be improved by changing traditional medical records to a problem-oriented format. The problem-oriented system of record keeping has since been attempted or adopted by many physicians in the United States and abroad. This article will review four aspects of the POR. First, it will define the format of the POR in an ambulatory and ward setting. Second, it will discuss POR implementation. Third, it will attempt to assess the extent to which POR is in use currently. Fourth, it will review the studies that have attempted to evaluate the effectiveness of the POR.     

Treatment of croup. A critical review

Although viral croup is the most common form of airway obstruction in children 6 months to 6 years of age, there is debate regarding medical care for the hospitalized patient. A complete review of the English-language literature from 1960 to 1988 was performed, using both manual and Medline searches. Critical review shows that laryngotracheitis and spasmodic croup, previously emphasized in the literature as having distinct etiologies, most likely are two ends of a broad spectrum in the clinical presentation of a single disease. Critical assessment of all prospective randomized double-blind placebo-controlled trials reported during the study period shows that there is little information on the use of humidified air or supplemental oxygen, that racemic epinephrine hydrochloride is of well-demonstrated efficacy, and that dexamethasone phosphate at a dose greater than 0.3 mg/kg is effective in decreasing the length and severity of respiratory symptoms associated with viral croup.     

A review of pediatric inpatient care.

Between 101 and 188 medical records of children hospitalized in each of three community hospitals and one major teaching hospital were examined to determine need for admission and quality of care administered. Two of the hospitals had been similarily studied two years before. Twenty-five percent of all admissions and 17% of all patient days were considered unnecessary. The smallest number of inappropriate admissions was found in the major teaching institution, but one of the community hospitals without any teaching affiliation was notably better than the other two. The teaching hospital and the same community hospital also achieved the lowest questionable management rates. Significant (P less than 0.5) but minimal reduction had occurred in number of unnecessary admissions when first and second utilization studies in these two hospitals were compared.     

Diastematomyelia in adults. A review

A consecutive series of 45 cases of diastematomyelia in adults is analyzed. The majority of patients were females with a 3.4:1 female to male ratio. The ages ranged from 19 to 76 with a mean of 37.8 years. The lesion was usually located in the lumbar region. In 17 patients the development of symptoms was associated with specific incidents or events, usually trauma. Twelve patients had pre-existing static musculoskeletal or neurologic abnormalities and 20 had cutaneous spinal lesions suggesting dysphraphism. The symptoms and signs included pain and a variety of sensorimotor and/or sphincteric abnormalities. Metrizamide CT scanning proved to be the most useful diagnostic procedure. Only 4 patients were investigated by MRI and from the information available its role in the diagnosis of adult diastematomyelia is not established. Twenty-three of 24 patients treated by surgery showed marked improvement.     

Shwachman's syndrome. A review of 21 cases.

21 patients (10 male, 11 female) aged between 11 months and 29 years with Shwachman''s syndrome are reviewed. All patients had exocrine pancreatic insufficiency. Haematological features included neutropenia in 19 (95%), anaemia in 10 (50%), and thrombocytopenia in 14 (70%); one patient developed erythroleukaemia. Severe infections occurred in 17 (85%) from which 3 (15%) died. Only one child exceeded the 3rd centile for height, and growth retardation was particularly evident in the older patients. All had skeletal abnormalities or delayed skeletal maturation, or both. Metaphyseal dyschondroplasia affected 13 of the older patients and was associated with skeletal deformities. Eight of 9 children under 2 1/2 years had rib abnormalities. Respiratory function tests in children under 2 years demonstrated reduced thoracic gas volume and chest wall compliance. Older patients had reduced forced expiratory volume and forced vital capacity. Neurological assessment showed developmental retardation or reduced IQ assessments, or both, in 85% of patients studied. Other neurological abnormalities included hypotonia, deafness, and retinitis pigmentosa. Neonatal problems had been present in 16 (80%) of the patients and 5 were of low birthweights. Hepatomegaly with biochemical evidence of liver involvement occurred in the younger patients and resolved with age. Other associated features included dental abnormalities, renal dysfunction, an icthyotic maculopapular rash in 13 (65%), delayed puberty, diabetes mellitus, and various dysmorphic features. These findings stress the diverse manifestations of the syndrome and extend knowledge on a number of aspects. Sibship segregation ratios support an autosomal mode of inheritance and an hypothesis for the pathophysiological basis of this syndrome is advanced.     

The hyperkinetic child. A historical review.

A historical review of the concepts and classification of the hyperkinetic child is presented, ranging from the supposed biological origins in the late nineteenth century to the hyperkinetic impulse disorder, and then to the concept of minimal brain dysfunction. The differences in European and North American approaches are described.     

Pediatric clinical pharmacology. A practical review.

Significant differences exist between children and adults in their handling of a large number of therapeutic agents. The relative immaturity of the pediatric patient and the continuous state of development of body and organ functions influence both drug effects and drug disposition. Daily dosage requirements vary with age. For many drugs, children require and tolerate much more of a drug, relative to their size, for the same effect. Newborns may need more or less of a drug for a comparable effect. A conceptual framework is provided to aid in understanding the individuality of the pediatric patient's drug disposition processes based on differences in physiologic functions affecting drug absorption, distribution, metabolism, and excretion. Additional data are needed on drug disposition in children of all ages to maximize therapeutic drug usage with avoidance of toxicity.     

Adolescent hepatitis B vaccination. A review.

Adolescents and young adults are at particular risk for HBV. Many countries with varying degrees of incidence now incorporate late childhood and/or adolescent HBV immunizations into their vaccine schedules. Available vaccines are highly effective in inducing long-term seroprotection and are considered of equivalent immunogenicity for most purposes. Immunologic memory maintains seroprotection in the absence of measurable HBsAb. Recent innovations have included the 2-dose, 10 mg Recombivax HB regimen for those 11-15 years old and Twinrix, a combination hepatitis A and B vaccine. The immunocompromised are at increased risk for hypo or non-response to HBV vaccine and loss of immunologic memory. These patients should have post vaccination testing for HBsAb titers as well as periodic testing thereafter. If their HBsAb titer decreases to less than 10 mIU/ml, they should receive a booster dose.     

Acute poststreptococcal glomerulonephritis. A review of recent developments.

This revision is concerned with controversial aspects of the etiopathogenesis of acute poststreptococcal glomerulonephritis (APSGN) and with recently published clinical, serologic, immunohistologic and prognostic data. The putative nephritogenic antigens in group A streptococcus are discussed and the pathogenetic alternatives of exogenous (streptococcal) versus autologous (streptococcal-induced) immune complex (IC) disease are analyzed. The possible role of antiglobulins is reviewed in the light of the work that shows high titers of rheumatoid factor activity in the serum, as early as the first day of clinical APSGN, and glomerular-fixed anti-IgG in the biopsies of these patients. Circulating IC have been documented to be more frequent in the first week of the disease (2/3 of patients) that at a later date. Cryoglobulins are present in most cases tested in the first week, and elevation of serum IgG and IgM levels is found in over 90% of the patients. From the immunohistologic viewpoint, emphasis is made in recent work indicating IgG localization in the dermal papillae of uninvolved skin, which may be of potential diagnostic significance. Review of the published data on the prognosis of APSGN suggest that this issue is far from settled. Attention is called to the fact that the conflicting opinions may reflect different interpretations of possibly not too different data.     

Congenital dislocation of the hip. A review

Congenital dislocation of the hip usually results from capsular stretching caused by fetal malposition and crouching late in the third trimester. Early recognition of hip dislocation or instability soon after birth permits prompt treatment. Ortolani's and Barlow's maneuvers, respectively, reduce into and displace from the acetabulum a femoral head that is insecurely contained therein. The diagnosis of CDH in the first month of life usually depends on these clinical components of the physical examination of the newborn, because similar device, in this age group can usually maintain the displaced hip in sufficient flexion and abduction to permit reduction and normal development. By 3 months of age, the nuclei of the pelvis and upper femur have ossified enough to permit radiologic diagnosis of CDH. Problems related to treatment increase as the child grows older. In infants up to 6 months of age, closed methods with a harness usually succeed. Beyond 6 months, the soft tissues shorten and prevent easy reduction. These patients almost always require pre-reduction traction. An adductor tenotomy also facilitates reduction and apparently lessens compressive forces on the femoral head, an important consideration in preventing avascular necrosis of the head. Children over 1 year old develop bony changes, such as excessive femoral valgus and anteversion and deformity of the acetabulum. Treatment in these patients requires realignment of bony deformities with femoral or pelvic osteotomies in addition to the measures noted previously. The gentleness and high success rate of early treatment make early diagnosis of CDH an important consideration in infants and newborns.