Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.

Rationale: Hereditary sensory and autonomic neuropathy type IV (HSAN IV) may be misdiagnosed because of low awareness among clinical professionals and overlap with other subtypes of congenital insensitivity to pain (CIP).

Patient: The patient was a 1-year-and-5-months-old boy whose main symptoms were delayed psychomotor development and recurrent fever. Whole-exome sequencing (WES) revealed a compound heterozygous mutation (c.

Epstein-Barr virus downregulates the α7 nicotinic acetylcholine receptor of CD8 T lymphocytes might associate with coronary artery lesions in Kawasaki disease patients.

Objectives: Kawasaki disease (KD) is a systemic vasculitis that is caused by immunological dysregulation in children exposed to pathogens like Epstein-Barr virus (EBV). Myocardial ischemia or infarction due to coronary artery lesions (CALs) might be lethal. However, it is unclear how pathogens, immunomodulation, and CALs interact, particularly in KD patients co-infected with the most widespread virus, EBV.

Transcriptomic Analyses Suggest the Adaptation of Bumblebees to High Altitudes.

Determining the adaptive mechanisms by which bumblebees adapt to high altitudes can help us to better understand their distribution, providing a basis for the future protection and utilization of bumblebee resources. For this study, the adaptive mechanisms of two dominant bumblebee species in the northeastern Qinghai-Tibet Plateau- and -were studied through transcriptomics methods. For each species, enrichment analysis of the differentially expressed genes and gene set enrichment analysis were carried out between samples collected at different altitudes (4000 m, 4500 m, and 5000 m).

Potential pathogenic mechanism of type 1 X-linked lymphoproliferative syndrome caused by a mutation of SH2D1A gene in an infant: A case report.

Background: X-linked lymphoproliferative syndrome (XLP) is a rare X-linked recessive inborn errors of immunity. The pathogenesis of XLP might be related to phophatidylinositol-3-kinase (PI3K)-associated pathways but insight details remain unclear. This study was to study an infant XLP-1 case caused by a mutation in SH2D1A gene, investigate the structural and functional alteration of mutant SAP protein, and explore the potential role of PI3K-associated pathways in the progression of XLP-1.

The complete mitochondrial genome and phylogenetic analysis of Dyar, 1905 (Lepidoptera: Zygaenidae).

is a leaf-eating pest that infests pear trees across all pear-producing regions of China. The present study, aimed to sequence the mitochondrial genome (GenBank accession no. MZ726799) using the Illumina NovaSe Sequencing System to understand the population genetics, evolution, and taxonomy of and other related species.

[High quality standard of Scutellariae Radix based on plant metabolomics and index components].

Scutellariae Radix(SR), derived from the dried root of Scutellaria baicalensis in the family Lamiaceae, commonly serves as Chinese medicinal material. Affected by producing areas, growing years, and harvesting periods, the quality of SR fluctuates in the market. However, baicalin≥9% in SR required in the Chinese Pharmacopoeia(2020 edition) can only determine the qualified SR but cannot identify high-quality SR.

Analysis of complete mitochondrial genome sequence of (Hymenoptera: Tenthredinidae) (Thomson, 1871).

is a leaf-eating pest that mainly damages willow trees and is widely distributed in northern regions. In this study, we sequenced the entire mitochondrial genome of (GenBank accession number: MZ726800). The circular gene was 16,104 bp in length and comprised 38 column elements, including 13 protein-coding genes (PCGs), 22 transfer RNA genes, two ribosomal RNA genes, and a non-coding control region.

A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.

Background: Alkaptonuria (AKU) is a rare tyrosine metabolism disorder caused by homogentisate 1,2-dioxygenase (HGD) mutations and homogentisic acid (HGA) accumulation. In this study, we investigated the genotype-phenotype relationship in AKU patients with a novel HGD gene mutation from a Chinese Hani family.

Methods: Routine clinical examination and laboratory evaluation were performed, urine alkalinization test and urinary gas chromatography-mass spectrometry were used to assess HGA.

A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report.

Rationale: Norrie disease (ND) is a rare X-linked recessive disease characterized by bilateral congenital blindness and auditory impairments. According to the previous studies, Norrin cystine knot growth factor (NDP) gene have been found to be responsible for ND. Herein, we report a case of ND with a novel mutation in NDP and elucidate the clinical and molecular characteristics of this patient.

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene.

Methods: We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II.

Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.

The aim of this study was to investigate the clinical features and genetic causes of two family cases with familial chylomicronemia syndrome (FCS). Clinical manifestations of proband 1 and her families, and also proband 2 showed severe hypertriglyceridemia, especially the triglycerides levels of two probands were extremely high. Gene sequencing results showed that the LPL genes in each of the two probands had a new mutation site.

Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese minorities: Two case reports.

Rationale: Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by thrombocytopenia, small platelets, eczema, immunodeficiency, and an increased risk of autoimmunity and malignancies. X-linked thrombocytopenia (XLT), the milder phenotype of WAS, is always limited to thrombocytopenia with absent or slight infections and eczema. Here, we illustrated the clinical and molecular characteristics of 2 unrelated patients with WAS from Chinese minorities.

Complete mitochondrial genome of (Coleoptera：Scarabaeoidea).

is one of the important underground pest species that damage agricultural and forestry plants and often requires chemical control during outbreak. Here, we determined the complete mitochondrial genome sequence of (GenBank accession no. MW143080) using Illumina NovaSe Sequencing System with a read length of 150 bp.

One-step fabrication of alkali-acid modified three-dimensional magnetic biochar for the determination of pesticides in pigment-rich vegetables.

Magnetic biochar was successfully synthesized via a one-step method through simultaneous activation and magnetization with alkali-acid modified citrus peel as the raw material, which could effectively penetrate interfering substances. The characterization analysis showed that the magnetic biochar exhibited high graphitic degree, higher specific surface area and smaller pore diameter, which resulted in superior adsorption performance. The magnetic biochar was used as an adsorbent for the cleanup and extraction of 22 pesticides (consisting of insecticides, fungicides and herbicides) from vegetables and the quantitative detection was completed by gas chromatography-mass spectrometry (GC-MS).

Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.

Waardenburg syndrome (WS) is a congenital hereditary disease, attributed to the most common symptoms of sensorineural deafness and iris hypopigmentation. It is also known as the hearing-pigmentation deficient syndrome. Mutations on SOXl0 gene often lead to congenital deafness and has been shown to play an important role in the pathogenesis of WS.

Three Chemosensory Proteins Involved in Chemoreception of Oedaleus asiaticus (Orthopera: Acridoidea).

Chemosensory proteins (CSPs) are thought to play roles in the insect olfactory system by binding and carrying hydrophobic odorants across the aqueous sensillar lymph. The band-winged grasshopper, Oedaleus asiaticus Bei-Bienko, is one of the most important grasshopper pests in northern China, but there is little information about its olfactory system. In order to investigate the olfactory functions of CSPs in this pest, three CSP genes (OasiCSP4, OasiCSP11 and OasiCSP12) were expressed in Escherichia coli, and the binding affinities of the three recombinant CSP proteins were measured for 16 volatiles from the host plant (Stipa krylovii), fecal material and body of live adult O.

Identification and expression profiling of candidate chemosensory membrane proteins in the band-winged grasshopper, Oedaleus asiaticus.

The band-winged grasshopper Oedaleus asiaticus (Orthoptera: Acridoidea) is an important insect pest in north China. Chemosensory membrane proteins are believed to be crucial factors in direct interactions with odorants in the chemosensory process. However, there is much limited information on the chemosensory system in this pest.

Controllable synthesis of magnetic nanoporous carbon with tunable porosity for the efficient cleanup of vegetable samples.

Highly graphitic nanoporous carbon (NPC) was obtained from an agricultural waste-citrus peel at optimum condition. Then, a low-cost and pore size-controlled magnetic graphitic nanoporous carbon (MNPC) with ultrahigh specific surface area (1064 m g) was successfully fabricated by coprecipitation of FeO particles onto NPC. The prepared MNPC was characterized by Brunauer-Emmett-Teller (BET), Raman spectrum, scanning electron microscope (SEM) and Fourier transform infrared spectrometry (FT-IR).

Cost-efficient magnetic nanoporous carbon derived from citrus peel for the selective adsorption of seven insecticides.

A magnetic solid-phase extraction adsorbent that consisted of citrus peel-derived nanoporous carbon and silica-coated Fe O microspheres (C/SiO @Fe O ) was successfully fabricated by co-precipitation. As a modifier for magnetic microspheres, citrus peel-derived nanoporous carbon was not only economical and renewable for its raw material, but exerted enormous nanosized pore structure, which could directly influence the type of adsorbed analytes. The C/SiO @Fe O also possessed the advantages of Fe O microspheres like superparamagnetism, which could be easily separated magnetically after adsorption.

Fabrication of a high selectivity magnetic solid phase extraction adsorbent based on β-cyclodextrin and application for recognition of plant growth regulators.

An adsorbent, consisting of silica-coated FeO grafted graphene oxide and β-cyclodextrin (FeO@SiO/GO/β-CD), which possessed the merits of antioxidation, superparamagnetism, high surface area, high supramolecular recognition and environment friendly, was successfully fabricated. Considering the synergy between β-CD and graphene oxide in adsorption mechanism, the synthesized adsorbent could grasp compounds especially with aromatic structures through π-π interaction, hydrophobic interaction and host-guest inclusion complex forming. Based on the advantages, a magnetic solid phase extraction (MSPE) method for 9 PGRs using FeO@SiO/GO/β-CD as adsorbents was developed in this study.