Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.

Background: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.

Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.

Background: The 15q11.2 BP1-BP2 microdeletion syndrome is associated with developmental delays, language impairments, neurobehavioral disorders, and psychiatric complications. The aim of the present study was to provide prenatal and postnatal clinical data for 16 additional fetuses diagnosed with the 15q11.

Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing.

Hemoglobin (Hb) Lepore is a rare deletional δβ-thalassemia caused by the fusion between delta-beta genes, and cannot be identified by traditional thaltassemia gene testing technology. The aim of this study was to conduct molecular diagnosis and clinical analysis of Hb Lepore in four unrelated Chinese families using third generation sequencing. Decreased levels of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and an abnormal Hb band were observed in the probands of the four families.

Third-generation sequencing identified two rare α-chain variants leading to hemoglobin variants in Chinese population.

Background: Rare and novel variants of HBA1/2 and HBB genes resulting in thalassemia and hemoglobin (Hb) variants have been increasingly identified. Our goal was to identify two rare Hb variants in Chinese population using third-generation sequencing (TGS) technology.

Methods: Enrolled in this study were two Chinese families from Fujian Province.

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study.

Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype-phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal the pathogenic CNVs (pCNVs) that were associated with fetal CNS anomalies. We enrolled 5,460 pregnant women with different high-risk factors who had undergone CMA.

Effect of different application duration of a venous foot pump on prevention of venous thromboembolism after hip and knee arthroplasty: a multicenter prospective clinical trial.

Objective: To investigate the optimal duration of applying a venous foot pump (VFP) in the prevention of venous thromboembolism (VTE) following hip and knee arthroplasty.

Methods: A total of 230 patients undergoing hip and knee arthroplasty between March 2021 and March 2022 in orthopaedic departments of four major teaching hospitals were prospectively enrolled. Patients were randomly divided into five groups based on the duration of the VFP application.

Catalytic Degradation of Triphenylmethane Dyes with an Iron Porphyrin Complex as a Cytochrome P450 Model.

The organic dyes used in printing and dyeing wastewater have complex components, diverse structures and strong chemical stability, which make them not suitable for treatment and difficult to degrade in the environment. Porphyrins are macromolecules with 18 π electrons formed by four pyrrole molecules connected with a methylene bridge that has a stable structure. Porphyrin combines with iron to form an active intermediate with a structure similar to the cytochrome P450 enzyme, so they are widely used in the biomimetic field.

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.

Background: Pathogenic mutations in EVC or EVC2 gene can lead to Ellis-van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder. This study aimed to determine pathogenic gene variations associated with EvC syndrome in fetuses showing ultrasound anomalies.

Methods: A 32-year-old pregnant woman from Quanzhou, China was investigated.

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant.

Introduction: β-thalassemia is a common genetic disease affecting a single gene, disease with a high incidence in South China. We hereby, aim to provide the clinical and hematological features of a rare β-globin gene variant in the Chinese population.

Methods: Ten subjects from three unrelated Chinese families were enrolled in this study.

Case Report: Novel compound heterozygous variants in gene leading to lethal multiple pterygium syndrome: A case report.

Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures. We herein report a Chinese case with a history of three adverse pregnancies demonstrating the same ultrasonic phenotypes, including increased nuchal translucency, edema, fetal neck cystoma, reduced movement, joint contractures, and other congenital features. Whole-exome sequencing (WES) revealed novel compound heterozygous variants in the gene NM_000079.

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the Gene in a Fetus With Familial 2q14.2 Duplication.

Pathogenic mutations in the gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death. Limited reports indicated that the mutations would result in LQT2 combined with tetralogy of fallot. Our goal was to present an additional case of LQT2 combined with the tetralogy of fallot in a fetus with a novel mutation.

Identification of a Rare Variant of c.1777G>A (p.G593S) in the Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing.

Background: Osteogenesis imperfecta (OI) is a rare heterogeneous disorder typically featured by fragile bones and susceptibility to fracture. The aim of the present study was to explore the genetic etiology of familial recurrent OI and the genotype-phenotype correlation.

Methods: Karyotyping, chromosomal microarray analysis, and whole-exome sequencing (WES) were performed to determine the genetic etiology of OI in the enrolled family.

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.

Oculofaciocardiodental (OFCD) syndrome is an X-linked dominant syndrome caused by BCOR , which manifests only in females and presumed leading to male lethality. Herein, we aim to present a prenatal diagnosis for OFCD syndrome associated with a novel hemizygous variant in gene. A 29-year-old pregnant woman from Quanzhou Fujian Province, China, with fetal ultrasound anomalies, was enrolled in this study.

Self-Assembly of Ir-Based Nanosheets with Ordered Interlayer Space for Enhanced Electrocatalytic Water Oxidation.

Iridium (Ir)-based electrocatalysts are widely explored as benchmarks for acidic oxygen evolution reactions (OERs). However, further enhancing their catalytic activity remains challenging due to the difficulty in identifying active species and unfavorable architectures. In this work, we synthesized ultrathin Ir-IrO/C nanosheets with ordered interlayer space for enhanced OER by a nanoconfined self-assembly strategy, employing block copolymer formed stable end-merged lamellar micelles.

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis.

An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR. Prenatal ultrasound was applied to identify FGR.

Tailoring Surface Self-Organization for Nanoscale Polygonal Morphology on Germanium.

The evolution of polygonal-shaped nanoholes on the (100) surface of germanium, aided by focused ion beam induced self-organization, is presented. The energetic beam of ions creates a viscous phase which, at a thermodynamical minimum, leads to surface self-organization. A directed viscous-flow along the predefined nanoholes provides well-ordered polygonal nanostructures, ranging from triangles to hexagons and octagons, as desired.

[A Digital Filtering Method for Eliminating DC Offset in Ambulatory ECG Signals].

The amplifier is easy to saturation because of polarization voltage in ambulatory ECG acquisition. The traditional way is using analog high-pass filter to eliminate, but the output tends to have a residue. If upgrading high-pass filter cutoff frequency, it will lead to low frequency distortion of ECG signals.

A surface-fluorinated-TiO2-KMnO4 photocatalytic system for determination of chemical oxygen demand.

A new method for chemical oxygen demand (COD) determination has been developed, based on photocatalytic oxidative degradation by using a fluorinated-TiO2-KMnO4 system. In such a system, a linear correlation is observed between the amount of oxidizable dissolved organic matter and the amount of MnO4- consumed by the coupled reduction process. Thus, the COD determination is transformed to a simple and direct determination of the deletion of MnO4-.