Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.

Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.

In situ labeling of pretargeted hyaluronan for PET/MR imaging of CD44+ tumors.

Background: Tumor-specific molecular probe-based imaging strategies have shown great potential for tumor diagnosis. However, the sensitivity and contrast of imaging may interfere with the complex labeling process and degradation of tumor-specific imaging probes. We sought to adapt a pretargeting strategy and an in vivo bioorthogonal reaction to improve hyaluronan (HA)-based tumor multimodal imaging diagnosis.

Virtual Frisch grid perovskite CsPbBr semiconductor with 2.2-centimeter thickness for high energy resolution gamma-ray spectrometer.

High intrinsic detection efficiency is as decisive as high energy resolution. Scaling up detector volume has presented great challenges, preventing perovskite semiconductors from reaching sufficient detection efficiency. We report a hole-only virtual-Frisch-grid CsPbBr detector up to 2.

Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.

Given the high morbidity, mortality, and hereditary risk of cardiovascular diseases (CVDs), their prevention and control have garnered widespread attention and remain central to clinical research. This study aims to assess the feasibility and necessity of haplotyping-based preimplantation genetic testing for the prevention of inherited CVD. A total of 15 preimplantation genetic testing for monogenic defect (PGT-M) cycles were performed in 12 CVD families from January 2016 to July 2022.

[GSK484, a PAD4 inhibitor, improves endothelial dysfunction in mice with sepsis-induced lung injury by inhibiting H3Cit expression].

Objectives: To investigate the inhibitory effect of GSK484, a PAD4 inhibitor, on H3Cit expression following sepsis and its effects for improving sepsis-induced endothelial dysfunction.

Methods: Eighteen C57BL/6 mice were randomized into sham-operated group, sepsis model group and GSK484 treatment group (6), and in the latter two groups, models of sepsis were established by cecal ligation and puncture (CLP). The mice in GSK484 treatment group were given an intraperitoneal injection of GSK484 (4 mg/kg) on the second day following the surgery.

Comprehensive analysis of chromosome abnormalities by chromosome conformation based karyotyping (C-MoKa) in patients with conception failure and pregnancy loss.

Background: Chromosome abnormalities are a leading cause of conception failure and pregnancy loss. While traditional cytogenetics technologies like karyotyping have been helpful in identifying structural variations (SVs), they face challenges in detecting complex rearrangements and cryptic structures. In this study, we developed a new method called chromosome conformation based karyotyping (C-MoKa) to comprehensively detect different types of chromosomal abnormalities in patients with conception failure and pregnancy loss.

Transactivation DNA-binding protein-related genes were associated with salivary gland injury in primary Sjögren syndrome.

The purpose was to identify transactivation DNA-binding protein-related genes in salivary gland injury in primary Sjögren syndrome (pSS) in southwest China. We downloaded the datasets of GSE7451, GSE23117, and GSE40611. In order to screen the candidate genes, 2 kinds of machine learning algorithms were used.

Selenophosphate PbPSe Single Crystals Growth by Chemical Vapor Transport (CVT) Method for Radiation Detection.

The heavy metal selenophosphate PbPSe emerges as a promising room-temperature X-ray/γ-ray detectors due to its high resistivity, robust radiation-blocking capability, and outstanding carrier mobility-lifetime product, etc. However, the high activity of phosphides poses significant impediment to the synthesis and single crystal growth. In this work, we have prepared high-quality PbPSe single crystals with using the chemical vapor transport (CVT) method.

A novel variation in causing familial focal epilepsy with variable foci.

Background: Disheveled, EGL-10, and pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a component of GTPase-activating protein (GAP) activity toward the RAG complex 1 (GATOR1) protein, which is an inhibitor of the amino acid-sensing branch of the mammalian target of rapamycin complex 1 (mTORC1) pathway. GATOR1 complex variations were reported to correlate with familial focal epilepsy with variable foci (FFEVF). With the wide application of whole exome sequencing (WES), more and more variations in were uncovered in FFEVF families.

Efficacy of Repetitive Transcranial Magnetic Stimulation over the Supplementary Motor Area on Motor Function in Parkinson's Disease: A Meta-Analysis.

Objectives: The objective of this study was to assess the effect of repetitive transcranial magnetic stimulation (rTMS) on the supplementary motor area (SMA) in motor function in Parkinson's disease (PD) patients.

Method: Databases searched included 5 databases from October 7,2022 to January 4, 2023. The Cochrane Bias Risk Assessment Tool was used for quality assessment.

Minor (≤ 10%) Ground-Glass Opacity Component in Clinical Stage I Non-Small Cell Lung Cancer: Associations With Pathologic Characteristics and Clinical Outcomes.

The presence of a ground-glass opacity (GGO) component is a favorable prognostic factor in non-small cell lung cancer (NSCLC), although the prognostic impact of a very small GGO component remains poorly investigated. The purpose of this article is to investigate the impact of a minor (≤ 10%) GGO component on the prognosis of clinical stage I NSCLC in comparison with pure-solid nodules. This retrospective study included 382 patients (mean age, 60.

Can cerebellar theta-burst stimulation improve balance function and gait in stroke patients? A randomized controlled trial.

Background: The cerebellum is a key structure involved in balance and motor control, and has become a new stimulation target in brain regulation technology. Interference theta-burst simulation (iTBS) is a novel simulation mode of repetitive transcranial magnetic simulation. However, the impact of cerebellar iTBS on balance function and gait in stroke patients is still unknown.

The risk of breast cancer and gynecologic malignancies after ovarian stimulation: Meta-analysis of cohort study.

The effects of ovarian stimulation on breast and gynecological tumor incidence remain controversial. Therefore, the aim of this meta-analysis was to study the risk of cancer in ovarian stimulation. Of the 22713 studies initially identified, 28 were eligible for inclusion.

Multiparametric evaluation of mediastinal lymph node metastases in clinical T0-T1c stage non-small-cell lung cancers.

Objectives: This study aimed to determine the predictive factors of lymph node metastases in clinical T0-T1c stage non-small-cell lung cancers, so as to help making surgical strategy.

Methods: From January 2016 to December 2017, patients with clinical T0-T1c stage non-small-cell lung cancers were retrospectively reviewed. We elucidated the lymph node metastatic incidence and distribution according to the primary tumour radiographic findings and maximal standard uptake values, and extracted the associated clinicopathological factors.

Hemodynamic signal changes during volitional swallowing in dysphagia patients with different unilateral hemispheric stroke and brainstem stroke: A near-infrared spectroscopy study.

Background And Objectives: Strokes will result in decreased in cortical excitability and changed in the balance between the affected and unaffected hemispheres. Previous studies have focused on cortical changes in healthy subjects during swallowing, while they remain unknown in patients with stroke at different locations. Thus, the purpose of this study was to research cortical activation patterns of swallowing in patients with dysphagia and healthy subjects by the functional near-infrared spectroscopy (fNIRS).

Uncovering potential new biomarkers and immune infiltration characteristics in primary Sjögren's syndrome by integrated bioinformatics analysis.

Primary Sjögren's syndrome (pSS) is known as autoimmune disease characterized by damage to endocrine glands, such as the salivary and lacrimal glands. This study aimed to identify potential biomarkers for pSS using integrated bioinformatics analysis and explore the relationship between differentially expressed genes (DEGs) and immune infiltration. Three pSS datasets (GSE7451, GSE23117, and GSE40611) from the gene expression omnibus database were integrated.

The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping.

Purpose: Providing feasible preimplantation genetic testing strategies for monogenic disorders (PGT-M) for prevention and control of genetic cancers.

Methods: Inclusion of families with a specific pathogenic mutation or a clear family history of genetic cancers. Identification of the distribution of hereditary cancer-related mutations in families through genetic testing.

Effects of hepatitis B virus infection on the treatment outcomes following in vitro fertilization/intracytoplasmic sperm injection: An analysis of 21,999 first embryo transfer cycles.

To investigate the effects of hepatitis B virus (HBV) infection on the outcomes of Chinese couples undergoing in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) and the clinical data of their neonates. A total of 21,999 first embryo transfer cycles were included. They were categorized into four groups based on the couple's hepatitis B surface antigen (HBsAg) result (Group A = female HBsAg and male HBsAg ; Group B = female HBsAg and male HBsAg ; Group C = female HBsAg and male HBsAg ; Group D = female HBsAg and male HBsAg ).

Molecular Dynamics Simulation of the Effects of Complex Surfactants on Oil-Water Interaction and Aggregation Characteristics at the Interface.

In response to the problem of complex interaction between oil and water in the oil-water interface, especially heavy oil and water, this study investigated the effects of complex surfactants on the interaction of two phases and their aggregation characteristics by molecular dynamics simulation. The results showed that increasing the content of sodium lauryl polyether carboxylate (AEC-9Na) was beneficial to the coordination between it and alkyl glycoside (APG-10), improved the interfacial activity, and enhanced the interfacial stability of the composite system, and the best effect was achieved when AEC-9Na:APG-10 = 8:2. The thickness of the oil and water film on the oil-water interface was irregular.

Neoadjuvant Afatinib for stage III EGFR-mutant non-small cell lung cancer: a phase II study.

Afatinib, an irreversible ErbB-family blocker, could improve the survival of advanced epidermal growth factor receptor (EGFR)-mutant non-small cell lung cancer patients (NSCLCm+). This phase II trial (NCT04201756) aimed to assess the feasibility of neoadjuvant Afatinib treatment for stage III NSCLCm+. Forty-seven patients received neoadjuvant Afatinib treatment (40 mg daily).

Multiparametric MRI for evaluation of pathological response to the neoadjuvant chemo-immunotherapy in resectable non-small-cell lung cancer.

Objectives: This study aimed to explore the predictive value of intravoxel incoherent motion diffusion-weighted imaging (IVIM-DWI) and diffusion kurtosis imaging (DKI) quantitative parameters for the response to neoadjuvant chemo-immunotherapy (NCIT) in resectable non-small-cell lung cancer (NSCLC) patients, so as to provide a basis for clinical individualized precision treatment.

Methods: Treatment naive locally advanced NSCLC patients who enrolled in 3 prospective, open-label, and single-arm clinical trials and received NCIT were retrospectively analyzed in this study. Functional MRI imaging was performed at baseline and following 3 weeks of treatment as an exploratory endpoint to evaluate treatment efficacy.

Hemodynamic signal changes and functional connectivity in acute stroke patients with dysphagia during volitional swallowing: a pilot study.

Background: Dysphagia is one of the major post-stroke complications, understanding post-stroke changes in cortical excitability and promoting early remodeling of swallowing-related cortical areas to enable accurate treatment is essential for recovery of patients.

Objectives: We aimed to investigate hemodynamic signal changes and functional connectivity in acute stroke patients with dysphagia compared to age-matched healthy participants in response to volitional swallowing using functional near-infrared spectroscopy (fNIRS) in this pilot study.

Methods: Patients with first-ever post-stroke dysphagia having an onset of 1-4 weeks and age-matched right-handed healthy subjects were recruited in our study.

High-Performance Industrial-Grade CsPbBr Single Crystal by Solid-Liquid Interface Engineering.

All-inorganic metal halide perovskite CsPbBr crystal is regarded as an attractive alternative to high purity Ge and CdZnTe for room temperature γ-ray detection. However, high γ-ray resolution is only observable in small CsPbBr crystal; more practical and deployable large crystal exhibits very low, and even no detection efficiency, thereby thwarting prospects for cost-effective room temperature γ-ray detection. The poor performance of large crystal is attributed to the unexpected secondary phase inclusion during crystal growth, which traps the generated carriers.

Development and assessment of a predictive model for early diagnosis of rheumatoid arthritis in southwest China: A new nomogram.

Rheumatoid arthritis (RA) is a disease complicated with inflammatory synovitis, which seriously affects the life quality of patients. Early diagnosis is important for prognosis of RA. Here, we aimed to develop and assess a model for early diagnosis of RA in southwest China.