CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.

Background: Intellectual disability (ID) significantly impacts individual development and imposes a societal burden. Although mild ID accounts for approximately 85% of total cases, research into its genetic etiology remains relatively limited. We investigated a two-generation pedigree exhibiting varying degrees of global developmental delay (GDD) and ID.

Deproteinization and controlled starch prehydrolysis in intact pulse cotyledon cells regulates starch retrogradation and digestion.

Intact pulse cotyledon cells are known for their intact cellular structure and dense protein matrix, leading to slower starch digestibility. However, the retrogradation and digestibility of retrograded intracellular starch has rarely been investigated, and our preliminary results indicated the difficulty of intracellular starch retrogradation. To test mechanistic principles of intracellular starch retrogradation, intact pulse cells were extracted and treated with protease followed by pancreatic α-amylase (0-20 min) and pullulanase (24 h) prehydrolysis, and then controlled retrogradation (4 °C, 5 d).

Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis.

Ankylosing spondylitis (AS) is a chronic and progressive inflammatory arthritis involving disorders of both the immune and skeletal systems. Multiple osteochondromas (MO) is a rare skeletal disorder with a variety of clinical manifestations characterized by multiple benign exostoses. Here, we investigate a Chinese family with HLA-B27-negative AS complicated with MO.

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Background: Familial focal epilepsy with variable foci 2 (FFEVF2), an autosomal dominant disorder caused by pathogenic heterozygous variants in the gene, is characterized by focal epilepsy originating in different cortical regions of the temporal, frontal, parietal, and occipital lobes of the brain.

Methods: The study included a Chinese family in which proband had epilepsy, and her brother had autism, attention deficit hyperactivity disorder (ADHD), and mild intellectual disability (ID). Blood samples of the two children and their parents were collected for whole exome sequencing (WES).

Progression of drug resistance or multiple primary lung cancer: a case report and literature review of a patient with mesenchymal-epithelial transition factor exon 14 skipping alterations lung adenocarcinoma.

Mesenchymal-epithelial transition factor (MET) exon 14 skipping alterations are rare mutations in non-small-cell lung cancer, associated with high malignancy and poor prognosis. This article presents a case of a patient diagnosed with advanced left upper lung adenocarcinoma characterized by a MET14 skipping mutation. Following first-line treatment with crizotinib, there was a significant reduction in the size of the primary lesion; however, during the course of treatment, an increase in size and prominence of solid components were observed in the right upper lung lesion.

Dietary Polyphenols in Obesity Management: Critical Insights on Health Benefits and Mechanisms of Action.

Obesity is a major public health concern that increases the risk of diseases associated with metabolic disorders. Polyphenols, an important plant-derived phytonutrient, are widely present in diets. The dietary polyphenols have great potential to be used in reducing obesity and obesity-related diseases.

Case Report: A novel germline donor splicing site mutation of gene in a Chinese Tibetan pedigree with familial retinoblastoma.

Retinoblastoma (RB) is the most common primary intraocular malignancy in children and mostly initiates with biallelic inactivation of the gene. Hereditary retinoblastoma accounts for 40% of all cases, with only 6%-10% of patients having a positive family history. The proband, a Chinese Tibetan boy, was diagnosed with RB for leukocoria.

Transarterial chemoembolization plus apatinib for unresectable hepatocellular carcinoma: a multicenter, randomized, open-label, phase III trial.

Background: This study aimed to assess the efficacy and safety of transarterial chemoembolization (TACE) in combination with apatinib (TACE-apatinib) for patients with unresectable hepatocellular carcinoma (HCC).

Methods: This study was a multicenter, randomized, open-label, prospective, phase III trial. Patients with unresectable HCC were randomly assigned in a 1:1 ratio to receive either TACE-apatinib or TACE-alone treatment.

Atezolizumab Plus Bevacizumab Combined with or without Transarterial Chemoembolization in the Treatment of Advanced Hepatocellular Carcinoma: A Single-Center Retrospective Study.

Purpose: This study aimed to compare the efficacy and safety of atezolizumab plus bevacizumab (T+A) in combination with transarterial chemoembolization (TACE) (T+A+TACE) and T+A for patients with advanced hepatocellular carcinoma (HCC).

Patients And Methods: From December 2020 to August 2024, 83 patients with advanced HCC who received T+A+TACE treatment or T+A treatment in our hospital were included, and these patients were categorized into TACE+T+A group (n=52) and T+A group (n=31). The clinical outcomes between the two groups were analyzed and compared, and the prognostic factors that affected the efficacy were analyzed.

Optimization for ultrasound combined with flash extraction of polysaccharides from Phyllanthus emblica L. with antioxidant and hyperglycemic activity in vitro.

Ultrasound-assisted flash extraction was used to rapidly extract polysaccharides from Phyllanthus emblica L. fruits (PEPs) with a good yield of 9.73 % ± 0.

Influence of salts adopted in soaking treatments on the pulse cell wall matrix and in vitro digestion kinetics of starch.

Starch is the major component of pulse cotyledons and a primary energy source in the human diet. Its digestion is influenced by intrinsic structure and processing-induced changes at cellular level. This study investigated the effects of monovalent, divalent, and trivalent salts on cell-wall structure and in vitro digestion properties of intracellular starch.

The dominant negative mutation of PAX9 in nonsyndromic tooth agenesis.

Objectives: Paired box 9 (PAX9) is a transcription factor that plays a critical role in the development of human dentition. Although various mutations in the PAX9 gene have been identified to date, the mechanisms by which these mutations cause non-syndromic tooth agenesis (NSTA) remain not fully understood. To study the pathogenesis of NSTA, we investigated a Chinese NSTA family.

Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.

Background: Thalassemia is one of the most prevalent monogenic disorders in tropical and subtropical regions, imposing significant familial and social burdens on local populations. It is caused by point mutations or structural variations (SVs) in the α- or β-globin gene clusters. Due to the complex structure, full characterization of SVs has always been the focus and difficulty of molecular diagnosis of thalassemia patients.

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by severe global developmental delay (GDD) and distinctive facial grimacing. The loss of function of the CREBBP and EP300 genes is recognized as a genetic etiology of RSTS. However, the association between CREBBP variants and an increased risk of tumors remains unknown, despite multiple reports of tumor comorbidities related to RSTS.

Down-regulation of MYO1A inhibits trophoblast cell proliferation and migration through SMURF2/Hedgehog signaling pathway and leads to fetal growth restriction.

Introduction: Fetal growth restriction (FGR) is most commonly related to insufficient placental perfusion caused by insufficient trophoblast proliferation and migration. Myosin Ia, encoded by the gene MYO1A, plays an important role in cytoskeleton recombination and cell movement. In this study, we found that downregulation of MYO1A inhibits Hedgehog (Hh) signaling by interacting with SMURF2 in choriocarcinoma cells, leading to FGR.

Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling. Most neonates with ARCI are collodion babies. Herein, we recruited a Chinese family with one patient, who died as a collodion baby one month after birth.

Clinical outcomes of carotid artery stenting with open- versus closed-cell stents.

Background: The stent type may be associated with adverse events in carotid artery stenting (CAS). This study aimed to compare the clinical outcomes (stroke/myocardial infarction (MI)/death) of CAS with open- and closed-cell stents for patients with carotid artery stenosis.

Methods: Between April 2012 and May 2024, the clinical data of 223 patients who underwent CAS in our center were retrospectively analyzed.

[Clinical and drug sensitivity characteristics of invasive non-typhoidal enteritis in children aged 0-6 years in Chengdu, China, 2022-2023].

Objectives: To investigate the clinical characteristics and drug resistance profile of invasive non-typhoidal (NTS) enteritis in children in Chengdu, China, providing a reference for rational drug use and empirical treatment in clinical practice.

Methods: A retrospective analysis was conducted on the clinical data of 130 children with invasive bacterial enteritis due to NTS identified by fecal bacterial culture and the results of drug sensitivity tests for NTS in Chengdu from January 2022 to December 2023.

Results: NTS infections were mainly observed from April to September (113 cases, 86.

Fructus Mori polysaccharides modulate the axial distribution of gut microbiota and fecal metabolites to improve symptoms of hyperglycemia in type 2 diabetic mice.

To understand the gut microbiota composition in different intestinal segments is essential to clarify the structure-hypoglycemic relationship of Fructus Mori Polysaccharides (MFP). In this study, the spatial distribution of gut microbiota and fecal metabolites affected by MFP in type 2 diabetes mice was investigated using the 16S rRNA high-throughput sequencing technology and gas chromatography. The results showed that MFP could control body weight and reduce the blood glucose level.

Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Background: O'Donnell-Luria-Rodan (ODLURO) syndrome is a newly described neurodevelopmental disorder caused by a pathogenic KMT2E variant. The primary clinical phenotypes include developmental delay, intellectual disability (ID), and epilepsy. Epilepsy, observed in 29% of affected individuals, has not been thoroughly investigated.

Single-Cell RNA Sequencing Reveals Peripheral Immune Cell Senescence and Inflammatory Phenotypes in Patients with Premature Ovarian Failure.

Background: Premature Ovarian Failure (POF) is a heterogeneous syndrome characterized by ovarian dysfunction, frequently associated with autoimmune factors. The interaction between peripheral and ovarian immune signals remains unclear. Recent advancements in single-cell technology provide a unique opportunity to examine the complex peripheral immune response in POF patients at the microstructural level.

Alleviative effects of Dendrobium officinale polysaccharide on the quality deterioration of frozen dough and corresponding bread.

Dendrobium officinale polysaccharide (DOP), a natural hydrocolloid derived from polysaccharides, holds significant promise for enhancing the quality of frozen dough-based products. This research systematically examined the effects of DOP on the quality attributes of both frozen dough and the resulting bread throughout the period of frozen storage. Findings demonstrated that DOP enhanced thermal stability and slowed starch retrogradation.

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.

Objectives: The SOX5 gene has been identified as the pathogenic gene responsible for Lamb-Shaffer syndrome. In this study, we examined the SOX5 variant (c.221C > T, p.

Effect of bioactive Rosa roxburghii Tratt fruit polysaccharide on the structure and emulsifying property of lactoferrin protein.

Lactoferrin protein (LF) is a natural protein with certain emulsifying ability, but is sensitive to be affected by environmental factors and has poor oxidative stability to be used as emulsifier. In this study, the emulsifying ability of LF was significantly improved after conjugation with Rosa roxburghii Tratt fruit polysaccharides (RTFP), and the emulsion stability mechanism of LF-RTFP conjugates (L-R) were elucidated through the utilization of CLSM (confocal laser scanning microscopy), interfacial tension, apparent viscosity, and protein adsorption rate. The emulsion stabilized by L-R showed the smaller particle size (17.

Ultrasonic collaborative pulse extraction of sugarcane polyphenol with good antiaging and α-glucosidase inhibitory activity.

Sugarcane, as one important and heavily planted industrial crop, is meaningful to develop its byproducts. In this paper, the ultrasonic collaborative pulse was beneficial for the yield improvement and good bioactivity protection. The sugarcane polyphenol extract (SPE) yield reached 2.