Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Background: Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogeneity. Therefore, it is very important to conduct molecular genetic analysis on suspected patients. This study presented a male 38 weeks and 5 days infant with liver cytolysis and leukodystrophy.

Effects of Klotho polymorphisms on Preeclampsia risk in a case-control study.

Preeclampsia (PE) is a serious disorder of human pregnancy and always is accompanied with multi-organ disorder, which severely threatens the health of both the mothers and the offspring. The oxidative stress and genetic factors involves in the development of PE. The Klotho encodes Klotho protein that is capable of increasing resistance to oxidative stress.

Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis.

Thyroid dysgenesis (TD) accounts for most cases of congenital hypothyroidism. Although mutations in thyroid hormone receptor β (THRB) have been identified in TD, the mutational spectrum of THRB and phenotype-genotype correlations have not been fully elucidated. In this study, we aimed to find mutations of THRB, examine the functions of these mutations, and attempt to elucidate the relationship between THRB and TD.

Colorful Hydrophobic Poly(Vinyl Butyral)/Cationic Dye Fibrous Membranes via a Colored Solution Electrospinning Process.

Colorful nanofibrous membranes have attracted much attention for their visual varieties and various functionalities. In this article, a colored solution electrospinning process was used to fabricate colorful hydrophobic poly(vinyl butyral) (PVB)/cationic dye nanofibrous membranes (NFMs) successfully. The color and morphology of these as-spun nanofibrous membranes have been analyzed by colorimetry, spectroscopy, and scanning electron microscopy (SEM).

In situ precise electrospinning of medical glue fibers as nonsuture dural repair with high sealing capability and flexibility.

Purpose: In this work, we propose an in situ precise electrospinning of medical glue fibers onto dural wound for improving sealing capability, avoiding tissue adhesion, and saving time in dural repair.

Methods: N-octyl-2-cyanoacrylate, a commercial tissue adhesive (medical glue), can be electrospun into ultrathin fibrous film with precise and homogeneous deposition by a gas-assisted electrospinning device.

Results: The self-assembled N-octyl-2-cyanoacrylate film shows high compactness and flexibility owing to its fibrous structure.