Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

In this study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T, p.

Applying Blockchain Technology in Network Public Opinion Risk Management System in Big Data Environment.

Network public opinion represents public social opinion to a certain extent and has an important impact on formulating national policies and judgment. Therefore, China and other countries attach great importance to the study of online public opinion. However, the current researches lack the combination of theory and practical cases and lack the intersection of social and natural sciences.

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Ras-related C3 botulinum toxin substrate 2 (RAC2) is a small guanine nucleotide binding molecule that is exclusively expressed in hematopoietic cell lineages as a switcher. Based on in vivo and/or in vitro model experiments, RAC2 plays important roles in different cells through proliferation, secretion, and phagocytosis. It also performs a suppressing function in immunoglobulin (Ig) switching in Rac2-/- animals or cells.

Mutant in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

is a well-documented disease-related gene. Several -recessive variants have been reported to cause Ehlers-Danlos syndrome (EDS). To the best of our knowledge, no dominant variant that causes human disease has been reported.

MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants.

Purpose: The etiology for a considerable proportion of patients with congenital radioulnar synostosis (RUS) remains unclear. This study aimed to investigate the genetic cause of RUS without a known cause.

Methods: Patients with RUS were investigated.

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Up to 84% of patients with congenital pseudarthrosis of the tibia (CPT) present with neurofibromatosis type 1 (NF1) (NF1-CPT). However, the etiology of CPT not fulfilling the NIH diagnostic criteria for NF1 (non-NF1-CPT) is not well understood. Here, we collected the periosteum tissue from the pseudarthrosis (PA) site of 43 non-NF1-CPT patients and six patients with NF1-CPT, together with the blood or oral specimen of trios (probands and unaffected parents).

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Background: SMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6.

Methods: Genomic DNA samples were isolated from 251 RUS sporadic patients (with their parents) and 27 RUS pedigrees.

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Phenotypes of some rare genetic diseases are atypical and it is a challenge for pediatric intensive care units (PICUs) to diagnose and manage such patients in an emergency. In this study, we investigated 58 PICU patients (39 deceased and 19 surviving) in critical ill status or died shortly without a clear etiology. Whole exome sequencing was performed of 103 DNA samples from their families.

Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues.

Y chromosome represents masculinization. The extra Y chromosome of XYY patients usually leads to over-masculinization phenotypes. The occurrence of several DSD cases with XYY in blood is controversial.

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

Background: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China.

High-Efficiency Monolayer Molybdenum Ditelluride Light-Emitting Diode and Photodetector.

Developing a high-efficiency and low-cost light source with emission wavelength transparent to silicon is an essential step toward silicon-based nanophotonic devices and micro/nano industry platforms. Here, a near-infrared monolayer MoTe light-emitting diode (LED) has been demonstrated and its emission wavelength is transparent to silicon. By taking advantage of the quantum tunneling effect, the device has achieved a very high external quantum efficiency (EQE) of 9.