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.

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).

Lon dysfunction-mediated collateral sensitivity drives effective antibiotic combination therapies against tigecycline-resistant pathogens.

Tigecycline is a last-resort antibiotic primarily used to treat severe infections caused by multidrug-resistant (MDR) bacteria. However, the emergence of constantly appearing resistance determinants has drastically compromised its clinical effectiveness. Rational antibiotic combination provides a productive approach to tackle MDR pathogens.

A Novel Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.

Introduction: Neurodevelopmental disorders (NDDs) due to the (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in gene in patients with NDDs with hypotonia, seizures, and absent language.

Case Presentation: In this study, the clinical and genetic features of a Chinese girl with neurodevelopmental delay, developmental language disorder, and hypotonia are described.

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.

Background: Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM) was conducted in 32,967 pregnant women from January 2015 to December 2022.

Methods: A total of 148 fetuses diagnosed with chromosomal mosaicism by karyotyping with copy number variant sequencing (CNV-seq)/ chromosomal microarray analysis (CMA) and quantitative fluorescent polymerase chain reaction (QF-PCR) were selected, and the results from three the methods were compared and further analyzed.

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.

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.

Effects of high-intensity interval training versus moderate-intensity continuous training on cardiorespiratory and exercise capacity in patients with coronary artery disease: A systematic review and meta-analysis.

Background: With the increasing utilization of cardiac rehabilitation in clinical treatment and prognosis for patients with cardiovascular diseases, exercise training has become a crucial component. High-intensity interval training (HIIT) and moderate-intensity continuous training (MICT) are commonly employed in rehabilitating patients with cardiovascular diseases. However, further investigation is required to determine whether HIIT and MICT can effectively enhance the prognosis of patients with coronary artery disease.

Genetic analysis of partial duplication of the long arm of chromosome 16.

Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).

Bisphenol S Promotes the Transfer of Antibiotic Resistance Genes via Transformation.

The antibiotic resistance crisis has seriously jeopardized public health and human safety. As one of the ways of horizontal transfer, transformation enables bacteria to acquire exogenous genes naturally. Bisphenol compounds are now widely used in plastics, food, and beverage packaging, and have become a new environmental pollutant.

Exposure to bisphenol compounds accelerates the conjugative transfer of antibiotic resistance plasmid.

Antimicrobial resistance poses the most formidable challenge to public health, with plasmid-mediated horizontal gene transfer playing a pivotal role in its global spread. Bisphenol compounds (BPs), a group of environmental contaminants with endocrine-disrupting properties, are extensively used in various plastic products and can be transmitted to food. However, the impact of BPs on the plasmid-mediated horizontal transfer of antibiotic resistance genes (ARGs) has not yet been elucidated.

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.

Background: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders.

Methods: In this study, we conducted peripheral blood chromosome G-banding karyotyping and whole-exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G-banding karyotyping was also carried out on the proband's parents and brother.

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

We present a case study highlighting prenatal ultrasound findings in monozygotic twins with chromosome 17q12 deletion syndrome. Fetus A exhibited bilateral fetal pyelectasis and talipes equinovarus, while fetus B showed hyperechogenic kidneys. Despite sharing the same de novo variant, the twins displayed distinct clinical phenotypes, suggesting the presence of non-genetic factors influencing the phenotypic variability of this syndrome.

Investigation of the impact of widely used pesticides on conjugative transfer of multidrug resistance plasmids.

Plasmid-mediated conjugative transfer has emerged as a major driver accounting for the dissemination of antibiotic resistance genes (ARGs). In addition to the use of antimicrobial agents, there is growing evidence that non-antibiotic factors also play an important role. Pesticides are widely used to protect crops against vectors of diseases, and are indispensable agents in agricultural production, whereas the impact of pesticide pollution on the transmission of antimicrobial resistance remains poorly understood.

PDE4 inhibitors: potential protective effects in inflammation and vascular diseases.

Phosphodiesterase 4 (PDE4) inhibitors are effective therapeutic agents for various inflammatory diseases. Roflumilast, apremilast, and crisaborole have been developed and approved for the treatment of chronic obstructive pulmonary disease psoriatic arthritis, and atopic dermatitis. Inflammation underlies many vascular diseases, yet the role of PDE4 inhibitors in these diseases remains inadequately explored.

Bmal1 regulates female reproduction in mice via the hypothalamic-pituitary-ovarian axis.

The hypothalamic-pituitary-gonadal axis (HPG) is the key neuroendocrine axis involved in reproductive regulation. Brain and muscle ARNT-like protein 1 (Bmal1) participates in regulating the metabolism of various endocrine hormones. However, the regulation of Bmal1 on HPG and female fertility is unclear.

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children.

Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, and HPA is identified only through newborn screening for diseases.

Genetic analysis of a pedigree with MECP2 duplication syndrome in China.

Background: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. It is characterized by delayed or absent speech development, severe motor and cognitive impairment, and recurrent respiratory infections. MDS is caused by the duplication of a chromosomal region located on chromosome Xq28, which contains the methyl CpG binding protein-2 (MECP2) gene.