Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia.

Objective: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis. The chronic nature and severity of CAH place children at risk for psychiatric morbidity. The aim was to assess the degree of anxiety and depressive symptoms in children with CAH.

13-Year-Old Boy Presenting with Bilateral Femur Fractures in the Setting of Severe Vitamin D Deficiency.

Background: Femur fractures in adolescents are rare. Severe vitamin D deficiency has important implications for bone health. We describe the case of a 13-year-old boy with autism spectrum disorder (ASD) who presented with low-impact bilateral femur fractures in the setting of severe vitamin D deficiency.

Perioperative stress dose steroid management of children with classical congenital adrenal hyperplasia: Too much or too little?

Background: Children with congenital adrenal hyperplasia (CAH) are at risk for adrenal crises in the perioperative period and require higher doses of glucocorticoids. However, there are no specific protocols detailing the appropriate stress dosing required for children with CAH undergoing surgery with anesthesia.

Objective: To evaluate CAH patients using our current hydrocortisone stress dose surgical protocol.

Extended-Spectrum Beta-Lactamase-Producing Meningitis and Cerebral Abscess in a Neonate: Therapeutic Challenge.

We report a case of a 12-day-old term neonate with extended-spectrum beta-lactamase (ESBL) producing meningitis and cerebral abscess. The patient received a 7-day course of antibiotics just few days prior to the infection. The incidence of infections from ESBL-producing is increasingly emerging.

8p 11 Microduplication Is Associated with Neonatal Stridor.

We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon follow-up. Whole genome SNP microarray analysis showed an ∼846-kb interstitial duplication of the short arm of chromosome 8 (8p11.

Heterozygous Mutation in Two Family Members with Short Stature and Skeletal Dysplasia.

Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. Heterozygous mutations have been reported in patients previously classified with idiopathic short stature (ISS).

11p15.4 Microdeletion Associates with Hemihypertrophy.

We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4).

Biogeography of Deep-sea benthic bacteria at regional scale (LTER HAUSGARTEN, Fram Strait, Arctic).

Knowledge on spatial scales of the distribution of deep-sea life is still sparse, but highly relevant to the understanding of dispersal, habitat ranges and ecological processes. We examined regional spatial distribution patterns of the benthic bacterial community and covarying environmental parameters such as water depth, biomass and energy availability at the Arctic Long-Term Ecological Research (LTER) site HAUSGARTEN (Eastern Fram Strait). Samples from 13 stations were retrieved from a bathymetric (1,284-3,535 m water depth, 54 km in length) and a latitudinal transect (∼ 2,500 m water depth; 123 km in length).