Cystic fibrosis mutation frequencies in upstate New York.

Upstate New York patients (100) with cystic fibrosis (i.e., 200 CF chromosomes), 72 from the CF center in Syracuse and 28 from a Buffalo CF center, were analyzed for their CF-causing mutations using restriction enzyme digest, single-strand conformation analysis (SSCA), and Heteroduplex (HA) analysis. Polymerase chain reaction (PCR) amplified products from all 27 CFTR exons using primers that included flanking intron junction sequence were investigated. More than 120 known cystic fibrosis transmembrane conductance regulator (CFTR) disease-causing mutations were screened. Four novel CFTR disease-causing mutations were identified (N287Y in exon 6b, 1259insA in exon 8, R1070P in exon 17b, and CF?20kbdel14b-18). A detection rate of 96% of the combined Syracuse and Buffalo population CF chromosomes was obtained.

Chronic pneumonitis of infancy. A unique form of interstitial lung disease occurring in early childhood.

We describe nine infants with a rare form of interstitial lung disease that is characterized by marked alveolar septal thickening, striking alveolar pneumocyte hyperplasia, and an alveolar exudate containing numerous macrophages and foci of eosinophilic debris. Primitive mesenchymal cells predominate within the widened alveolar septa; inflammatory cells are scant. This entity occurs exclusively in infants and very young children and differs from other types of interstitial pneumonia occurring in either children or adults. The histologic findings suggest that it may reflect slowly resolving or recurrent pneumonia superimposed on immature or abnormally developed lungs. The term chronic pneumonitis of infancy was chosen to reflect the unique occurrence of this lesion in young children and to emphasize its distinction from adult forms of interstitial pneumonia.

Breast-milk composition in women with cystic fibrosis: report of two cases and a review of the literature.

Breast milk was collected from two women with cystic fibrosis (CF) and data from the literature was reviewed. The sodium concentration was within normal limits, 11-24 mmol/L in colostrum and 7-8 mmol/L in mature milk. Normal physiologic changes in milk composition after parturition (decreases in Na and increases in lactose) and during individual feeding periods (increases in fat and decreases in protein) were observed. Concentrations of milk protein, fat, and sugars were normal when the pulmonary disease of these patients was mild. During exacerbations of pulmonary disease, the concentrations of milk macronutrients were reduced. Milk secreted by women with CF appears to be physiologically normal, safe for the infant, and breast-feeding by mothers with CF should no longer be discouraged. Variations in the macronutrient content of CF milk warrants routine monitoring of the mother with CF and the breast-fed infant, especially during exacerbations in the pulmonary aspects of this disease.

Dystonia associated with carbamazepine administration: experience in brain-damaged children.

Carbamazepine is an anticonvulsant most effective in treating complex partial and generalized tonic-clonic seizures. We have cared for three children in whom four episodes of dystonia proceeding to opisthotonus occurred in association with carbamazepine use. The patients, a 4-year-old with microcephaly and severe retardation, a 1-year-old with cerebral dysgenesis, and a 5-year-old with spastic quadriplegia and mild retardation, all had seizures unresponsive to multiple anticonvulsant combinations. In all three patients carbamazepine was introduced and gradually increased to a maximum dosage of 25 mg/kg of body weight per day. Dystonic symptoms began two to three weeks after introduction of therapy and subsided within three weeks after discontinuation. In one child, a second course of carbamazepine resulted in a return of the dystonia. The currently available clinical and neuropharmacologic data suggest that carbamazepine may be an antagonist of dopamine and that this property is responsible for the production of dystonia.

A prospective randomized study to determine the efficacy of steroids in treatment of croup.

We evaluated the use of dexamethasone in the management of acute laryngotracheobronchitis (croup). Thirty patients, ranging in age from eight to 60 months, were evaluated in a prospective, double-blind study. Patients received dexamethasone, 0.3 mg/kg at the time of admission and a similar dose 2 hours later, and were compared with a placebo group receiving saline. Sixteen patients received dexamethasone and 14 patients received the placebo. Severity of each group was scored by a standardized system. Patients receiving dexamethasone had a mean admission score of 8.46 points; patients receiving placebo, 8.14. Twenty-four hours after admission the patients in the treatment group had a mean score of 1.19 as contrasted with a score of 5.58 for the placebo group (P less than 0.01). We concluded that dexamethasone when administered in adequate dosage by an intramuscular route hastens the recovery of infants and children with acute uncomplicated croup.

Vietnamese and Cambodian orphans 1975--the first look. The initial medical screening and treatment at Clark Air Force Base.

In April of 1975, the United States government evacuated approximately 2,000 orphans from Vietnam and Cambodia. More than 1,500 orphans received initial medical evaluation and treatment at Clark Air Force Base, Republic of the Phillipines. The orphans underwent a minimum of 2 physician evaluations and were individually cared for by a volunteer. One hundred and six children were ill enough to require acute admission to the hospital. Four infants died while at Clark. No unusual tropical illnesses were diagnosed at Clark nor were any diseases identified that might represent a significant health hazard to the United States. The medical conditions found among these orphans appear to be similar to the problems found among the children of migrant farm workers in the United States.

Malabsorption of iron in children with iron deficiency.

Inability to absorb oral iron is believed to be an extremely rare cause of therapeutic failure in the treatment of iron deficiency anemia. Six patients who had failed to respond to oral iron therapy were studied by a simple oral absorption test and contrasted with 25 patients with untreated iron deficiency anemia and 10 normal subjects. All six of the patients who were therapeutic failures demonstrated impaired iron absorption in the absence of other clinical evidence of gastrointestinal disease. In the 25 newly diagnosed patients with iron deficiency. 24 demonstrated elevated iron absorptions while 10 ironreplete normal subjects had minimal elevations in their serum iron values following the administration of the test dose of 1 mg of elemental iron per kilogram. When the therapeutic failures were treated with parenteral iron, all had a therapeutic response. In addition, after treatment the impaired absorption of iron improved transiently. All children who absorbed iron readily responded to oral iron therapy.

Impact of a system of computer-assisted diagnosis. Initial evaluation of the hospitalized patient.

Computer assisted diagnosis was evaluated for its ability to hasten the time to initial diagnosis and reduce laboratory studies. The time to diagnosis averaged 2.8 days for a control group and 1.9 days for the group in which the computer printout was made available. In a small group in whom the diagnosis was not established until after 48 hours, there was a further trend to reduction in number of days to diagnosis and irrelevant laboratory studies. The ability of the computer to include the final diagnosis in the initial list of differential diagnoses remained unchanged for patients whose conditions were diagnosed before or after 48 hours, while the physicians' ability decreased. In a university hospital setting, computer-assisted diagnosis may be most beneficial for patients whose conditions have not been diagnosed within 48 hours of admission.