A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism.

Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively. We report the case of a female newborn infant who presented with repetitive seizures and episodes of apnea after birth, because of hypoglycemia. Investigations revealed hypoglycemia with hyperinsulinemia, but no ketone bodies, and a low level of free fatty acids. High dose glucose infusion, enteral feeding, and medications could not maintain the patient's serum glucose level. Genetic testing revealed a new variation of ABCC8 mutation. Therefore, we report this case of CHI caused by a novel mutation of ABCC8 in a half-Korean newborn infant with diazoxide-unresponsive hyperinsulinemic hypoglycemia.

Aluminum-free low-modulus Ti-C composites that exhibit reduced image artifacts during MRI.

Feasibility studies were performed to determine the suitability of a novel synthesis technique for fabricating multifunctional composite materials for orthopedic implants. By blending paramagnetic Ti powder with diamagnetic graphite and consolidating the resulting mixtures, Ti-C composites that cannot be feasibly obtained via conventional alloying techniques or ingot metallurgy were synthesized. The synthesized composite material exhibited extremely low magnetic susceptibility (χ=67.6×10(-6)), and, as a result, exhibited fewer artifacts during magnetic resonance imaging. The strength of the composite material (σ=770MPa) was such that it could support external loads to which the human body is subjected, but its Young's modulus was low (E=81.9 GPa) such that it could mitigate the stress-shielding effect. The material was also free from toxic elements such as Al and V and, thus, can be considered less harmful.

Transformation of framework solids into processable metallo-polymers.

A novel design strategy that extends metal-organic frameworks (MOFs) into tractable metallo-polymers was successfully explored by incorporating a homologous series of alkyl side chains to an organic linker, in which drastic solid to solid transformation is also observed.