Rapid Identification of Biallelic Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.

Heterozygous pathogenic variants in cause autosomal dominant hereditary spherocytosis, an important cause of neonatal nonimmune hemolytic anemia. Biallelic mutations are rarely reported, all with severe neonatal presentation. We describe rapid (68 h) genomic diagnosis of homozygous β-spectrin deficiency in a newborn with severe transfusion-dependent hemolytic anemia, conjugated hyperbilirubinemia, and progressive liver failure.

Normal Gamma Glutamyl Transferase Levels at Presentation Predict Poor Outcome in Biliary Atresia.

Objectives: Gamma-glutamyl transferase levels (GGT) are typically elevated in biliary atresia (BA), but normal GGT levels have been observed. This cohort of "normal GGT" BA has neither been described nor has the prognostic value of GGT level on outcomes in BA. We aimed to describe outcomes of a single-centre Australian cohort of infants with BA and assess the impact of GGT level at presentation on outcomes in BA.

Vitamin D non-sufficiency is prevalent in children with chronic liver disease in a tropical country.

Background: To determine vitamin D status in children with chronic liver disease (CLD) in a tropical country.

Methods: Cross-sectional study in Malaysian children with CLD. Factors affecting serum vitamin D level (definition: deficient < 30 nmol/L; insufficient 30-50 nmol/L; sufficient ≥ 50 nmol/L) was analyzed.

Chronic liver disease is universal in children with biliary atresia living with native liver.

Aim: To examine the medical status of children with biliary atresia (BA) surviving with native livers.

Methods: In this cross-sectional review, data collected included complications of chronic liver disease (CLD) (cholangitis in the preceding 12 mo, portal hypertension, variceal bleeding, fractures, hepatopulmonary syndrome, portopulmonary hypertension) and laboratory indices (white cell and platelet counts, total bilirubin, albumin, international normalized ratio, alanine aminotransferase, aspartate aminotransferase, γ-glutamyl transpeptidase). Ideal medical outcome was defined as absence of clinical evidence of CLD or abnormal laboratory indices.

Capillarity-assisted assembly of carbon nanotube microstructures with organized initiations.

In this work, detailed studies of three different capillary-assisted techniques for the formations of large-scale multiwalled carbon-nanotube (MWNT)-based microstructures were presented. Using laser induced artificial vacancies, new insights into the effect of laser power, densities of MWNTs, and oxidation process dependencies for the creations of MWNT polygons were presented. With organized initiations, MWNT pillars were crafted out of MWNT arrays and 0.