The influence of chronic disease on resource utilization in common acute pediatric conditions. Financial concerns for children's hospitals.

Objectives: To estimate the resource utilization in hospitalizations for common pediatric conditions or procedures involving patients with chronic disease vs those with no chronic disease and to develop an economic model of hospital per-patient profit (or loss) when insurance contracts fail to account for the presence of chronic disease.

Setting And Design: A retrospective analysis of selected acute pediatric conditions found in the 1991 and 1992 MedisGroups National Comparative Data Base.

Patients: We studied 30379 pediatric admissions for common acute conditions, including concussion, croup, pneumonia, appendicitis, gastroenteritis, fractures, cellulitis, urinary tract infection, and viral illness.

Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis.

Use of capillary electrophoresis, a new and useful analytical tool, offers a variety of advantages for nucleic acid analyses, including rapid analysis, automation, high resolution, qualitative and quantitative results, and low consumption of both sample and reagents. We report the first example of the use of entangled solution capillary electrophoresis (ESCE) and laser-induced fluorescence detection (LIF) for separation-based diagnostics in the quantitative analysis of multiplex PCR products for determination of carrier status of Duchenne/ Becker muscular dystrophy (DMD/BMD). This approach greatly improved the speed, resolution, and sensitivity of information needed for the diagnosis of DMD/BMD compared with that from conventional diagnostic methods, and is of general utility for diagnosis of genetic diseases.

Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues.

Sporadic neurofibromatosis 1 (NF1) occurs in the absence of a family history of the disease and usually results from a new mutation in the germ cell of one of the parents, most commonly the father. Older paternal age may increase the risk for a new germinal NF1 mutation, but the results of studies to address this question conflict. We investigated paternal age in sporadic NF1 by using a case-control study design.

Astrocyte leucine metabolism: significance of branched-chain amino acid transamination.

We studied astrocytic metabolism of leucine, which in brain is a major donor of nitrogen for the synthesis of glutamate and glutamine. The uptake of leucine into glia was rapid, with a Vmax of 53.6 +/- 3.

Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in italian patients presenting with sporadic bilateral optic neuritis.

Eighteen Italian patients presenting with sporadic, bilateral, simultaneous, or sequential optic neuritis (ON) were evaluated for 14 base changes in mitochondrial DNA (mtDNA) previously found associated with Leber's hereditary optic neuropathy (LHON), aiming to identify at a molecular level LHON cases with nontypical phenotypes. During a 36-month follow-up, 11 ON patients developed clinical or laboratory features allowing diagnosis of clinically definite multiple sclerosis (MS). None was positive for any of the "primary" LHON-associated mutations.