Prenatal risk assessment of Xp21.1 duplication involving the gene by optical genome mapping.

Structural variants (SVs) of unknown significance are great challenges for prenatal risk assessment, especially when involving dose-sensitive genes such as The pathogenicities of 5'-terminal duplications in the database remain controversial. Four prenatal cases with Xp21.1 duplications were identified by routine prenatal genomic testing, encompassing the 5'-UTR to exons 1-2 in family 1 and family 2, and to exons 1-9 in family 3.

Genetic subtypes and phenotypic characteristics of 110 patients with Prader-Willi syndrome.

Background: Prader-Willi syndrome (PWS) is a complex disorder caused by impaired paternally expressed genes on chromosome 15q11-q13. Variable findings have been reported about the phenotypic differences among PWS genetic subtypes.

Methods: A total of 110 PWS patients were diagnosed from 8,572 pediatric patients included from July 2013 to December 2021 by MLPA and MS-MLPA assays.

Microscopic Oil Displacement Mechanism of CO in Low-Permeability Heterogeneous Glutenite Reservoirs in the Junggar Basin.

Carbon dioxide (CO) flooding is a promising method for developing low-permeability heterogeneous glutenite reservoirs (LPHGRs) featured with low natural energy. Herein, the focus of this work was to study the microscopic oil displacement mechanism of CO in LPHGRs. First, the micropore structure and mineral composition of LPHGRs were analyzed, and the effect of CO on low-permeability reservoirs was then studied.

Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders.

Chromosome 15q24 microdeletion is a rare genetic disorder characterized by development delay, facial dysmorphism, congenital malformations, and occasional autism spectrum disorder (ASD). In this study, we identified five cases of 15q24 microdeletion using multiplex ligation-dependent probe amplification (MLPA) technology in a cohort of patients with developmental delay and/or intellectual disability. Two of these five cases had deletions that overlapped with the previously defined 1.

Identification and Functional Characterization of Antifreeze Protein and Its Mutants in Dendroctonus armandi (Coleoptera: Curculionidae: Scolytinae) Larvae Under Cold Stress.

Dendroctonus armandi (Tsai and Li) (Coleoptera: Curculionidae: Scolytinae) is considered to be the most destructive forest pest in the Qinling and Bashan Mountains of China. Low winter temperatures limit insect's populations, distribution, activity, and development. Insects have developed different strategies such as freeze-tolerance and freeze-avoidance to survive in low temperature conditions.

Expression Levels of Detoxification Enzyme Genes from (Coleoptera: Curculionidae) Fed on a Solid Diet Containing Pine Phloem and Terpenoids.

Bark beetles overcome the toxic terpenoids produced by pine trees by both detoxifying and converting them into a pheromone system. Detoxification enzymes such as cytochrome P450s, glutathione S-transferases, and carboxylesterases are involved in the ability of to adapt to its chemical environment. Ten genes from these three major classes of detoxification enzymes were selected to study how these enzymes help to respond to the host defenses.

Experimental Study on Supercritical CO Huff and Puff in Tight Conglomerate Reservoirs.

A tight conglomerate reservoir is a kind of unconventional reservoir with strong heterogeneity, and CO injection is an economical and environmentally friendly method to enhance tight oil recovery. Supercritical CO is a very promising fluid medium for unconventional reservoir development due to its gas-liquid dual properties. In this study, the production effects of supercritical CO and non-supercritical CO in tight conglomerate reservoirs were quantitatively analyzed by huff and puff simulation experiments conducted under reservoir conditions (formation pressure 37 MPa, temperature 89 °C).

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings.

Background: Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders.

[Effectiveness of proximal femoral nail anti-rotation and cerclage fixation for complicated femoral subtrochanteric fractures].

Objective: To investigate the effectiveness of proximal femoral nail anti-rotation (PFNA) and cerclage fixation for complicated femoral subtrochanteric fractures.

Methods: A clinical data of 74 patients with complicated femoral subtrochanteric fractures, who were admitted between March 2016 and March 2019 and met the criteria, was retrospectively analyzed. Among them, 39 patients were treated with limited open reduction and PFNA combined with cerclage fixation (observation group) and 35 patients were treated with closed reduction and PFNA fixation (control group).

Cloning and Expression of the Neuropeptide F and Neuropeptide F Receptor Genes and Their Regulation of Food Intake in the Chinese White Pine Beetle .

Neuropeptide F (NPF) is an important signaling molecule that acts as a neuromodulator to regulate a diversity of physiological and behavioral processes from vertebrates to invertebrates by interaction with NPF receptors, which are G protein-coupled receptors (GPCR). However, nothing is known about NPF in Chinese white pine beetle, , a destructive pest of natural and coniferous forests in the middle Qinling Mountains of China. We have cloned and characterized cDNAs encoding one NPF precursor and two NPF receptors in and made bioinformatics predictions according to the deduced amino acid sequences.

Identifying of 22q11.2 variations in Chinese patients with development delay.

Background: 22q11.2 variation is a significant genetic factor relating to development delay and/or intellectual disability. However, the prevalence, genetic characteristics and clinical phenotype in Chinese patients are unknown.

Fabrication of protease XIV-loaded microspheres for cell spreading in silk fibroin hydrogels.

Due to their excellent mechanical strength and biocompatibility, silk fibroin(SF) hydrogels can serve as ideal scaffolds. However, their slow rate of natural degradation limits the space available for cell proliferation, which hinders their application. In this study, litchi-like calcium carbonate@hydroxyapatite (CaCO@HA) porous microspheres loaded with proteases from Streptomyces griseus (XIV) were used as drug carriers to regulate the biodegradation rate of SF hydrogels.

[Experimental study on autologous injectable platelets rich fibrin combined with bone mesenchymal stem cells in treating sciatic nerve injury in rats].

Objective: To investigate the effectiveness of autologous injectable platelet rich fibrin (i-PRF) combined with bone marrow mesenchymal stem cells (BMSCs) for sciatic nerve injury in rats.

Methods: BMSCs were isolated and cultured from tibial bone marrow of Sprague Dawley (SD) neonatal rats aged 10-15 days and passaged to the 4th generation. i-PRF was prepared from posterior orbital venous blood of adult SD rats by improved low-speed centrifugation.

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.

Background: Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons (PTCs).

Methods: Ophthalmic examination was performed on a Chinese pedigree with congenital aniridia.

Research Progress on the Molecular Mechanism by Which Depression Affects Bone Metabolism.

Increasing evidence indicates that depression affects bone metabolism to some extent, but the specific mechanisms are still unclear. Numerous studies have confirmed that a variety of signaling molecules are involved in depression's impact on fracture healing, including serum monoamine neurotransmitters, cytokines, inflammatory markers, growth factors, and metabolites. This article comprehensively discusses the effects of depression-associated signaling molecules on bone metabolism and their underlying mechanisms to provide a basis for early preventive intervention for delayed fracture healing in patients with depression.

Identification, Expression Patterns and RNA Interference of Aquaporins in (Coleoptera: Scolytinae) Larvae During Overwintering.

The ability to survive annual temperature minima could be a key determinant of distribution limits for insects under global climate change. Recent studies have suggested that insect aquaporins are indispensable for cellular water management under conditions that lead to dehydration and cold stress. Aquaporins are integral membrane water channel proteins in the major intrinsic protein superfamily and promote selected solutes and the movement of water across biological membranes.

Differences in IGF axis-related proteins in amniotic fluid of trisomy 21 and trisomy 18 using a multiple reaction monitoring approach.

Objective: Trisomy 21 and trisomy 18 are the two most common chromosomal anomalies in live births. To find new biomarkers for aneuploidies and pathogenesis of fetal malformations, we measured insulin-like growth factor (IGF) axis-related proteins in amniotic fluid (AF) of pregnant women carrying trisomies 21 or 18 affected fetuses using multiple reaction monitoring (MRM) approach.

Method: Eighty-five AF samples from pregnant women carrying either trisomy 21, trisomy 18, or normal fetuses were collected.