Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported.

A whole-genome mouse BAC microarray with 1-Mb resolution for analysis of DNA copy number changes by array comparative genomic hybridization.

Microarray-based comparative genomic hybridization (CGH) has become a powerful method for the genome-wide detection of chromosomal imbalances. Although BAC microarrays have been used for mouse CGH studies, the resolving power of these analyses was limited because high-density whole-genome mouse BAC microarrays were not available. We therefore developed a mouse BAC microarray containing 2803 unique BAC clones from mouse genomic libraries at 1-Mb intervals.

Insulin lispro lowers postprandial glucose in prepubertal children with diabetes.

Objective: This study compared the glucose-lowering effect of insulin lispro, given before or after meals, with regular human insulin given before meals in prepubertal children with diabetes.

Research Design And Methods: A 3-way crossover, open-label study involving 61 prepubertal children (ages 2.9-11.

Lipodystrophy in patients with juvenile dermatomyositis--evaluation of clinical and metabolic abnormalities.

Objective: Lipodystrophy and associated metabolic abnormalities are being increasingly recognized as complications of juvenile dermatomyositis (JDM). We investigated the prevalence of lipodystrophy and the extent of metabolic abnormalities related to lipoatrophic diabetes mellitus in patients with JDM.

Methods: Twenty patients with JDM were evaluated for evidence of lipodystrophy and associated lipoatrophic diabetes mellitus.

Growth and growth factors in premature infants receiving dexamethasone for bronchopulmonary dysplasia.

Physical growth and the serum growth factors, insulin growth factor 1 (IGF1) and its binding protein (IGFBP3) were measured weekly during dexamethasone treatment and for 3 weeks after stopping therapy in 10 ventilated babies [median (range) birth weight 860 g (640-1210); median (range) gestational age 26 weeks (24-29)] with bronchopulmonary dysplasia (BPD). The mean (+/- SE) rates of change of all physical measures except crown-rump length (CRL) increased significantly after stopping dexamethasone: weight gain 13.2 (+/- 1.