Characteristics and preliminary immune function of SRA5 in Lateolabrax maculatus.

Scavenger receptors (SRs) are crucial for pattern recognition in the innate immune system. However, the role of Scavenger Receptors class A member 5 (SRA5) in the immunological response of bony fish to pathogen invasion remains unclear. This study identified and characterized the SRA5 of Lateolabrax maculatus (LmSRA5) from its transcriptome database.

Low-Noise Millimeter-Wave Down-Conversion Technology for Chip-Scaled Optical Clocks.

This article reports on a millimeter-wave (MM-wave) signal down-conversion system with low phase noise for chip-scaled optical clocks. The system utilizes analog regenerative frequency division, low-noise fractional frequency division, and phase-locked frequency division techniques to down-convert a 100 GHz MM-wave signal to 100 MHz with phase noise of -117 dBc/Hz @100 Hz, -133 dBc/Hz @1 kHz, and 10 MHz with phase noise of -124 dBc/Hz @100 Hz and -143 dBc/Hz @1 kHz. The frequency stability of the signal down-converted to 100 MHz is 5.

Identification of scavenger receptor (LmSRA3) gene and its immune response to Aeromonas veronii in Lateolabrax maculatus.

Scavenger receptors (SRs) serve as essential pattern recognition receptors in the innate immune system, playing multiple roles in the immunity of fish. They contribute to defense mechanisms against pathogenic infections through various pathways. However, research on the functions of SRs in the immune response of Spotted sea bass remains limited.

Development and validation of a risk prediction model for multiple organ dysfunction syndrome secondary to severe heat stroke based on immediate assessment indicators on ICU admission.

Introduction: Early prediction of multiple organ dysfunction syndrome (MODS) secondary to severe heat stroke (SHS) is crucial for improving patient outcomes. This study aims to develop and validate a risk prediction model for those patients based on immediate assessment indicators on ICU admission.

Methods: Two hundred eighty-four cases with SHS in our hospital between July 2009 and April 2024 were retrospectively reviewed, and categorized into non-MODS and MODS groups.

Late Age at First Birth is a Protective Factor for Preterm Labor and Delivery: The Evidence From the Genetic Study.

The objective of this study was to investigate the genetic link between the age at first birth (AFB) and the occurrence of preterm labor and delivery, utilizing Mendelian randomization (MR) data alongside genomewide association analysis (GWAS). We obtained AFB-related GWAS summary data from the European Bioinformatics Institute database and preterm labor and delivery data was sourced from the FinnGen Consortium. The study considered AFB as exposure variables, with the incidence of preterm labor and delivery serving as the outcome variable.

[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].

Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).

Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.

Single-cell transcriptomic analysis reveals the developmental trajectory and transcriptional regulatory networks of quinoa salt bladders.

Salt bladders, specialized structures on the surface of quinoa leaves, secrete Na to mitigate the effects of the plant from abiotic stresses, particularly salt exposure. Understanding the development of these structures is crucial for elucidating quinoa's salt tolerance mechanisms. In this study, we employed transmission electron microscopy to detail cellular differentiation across the developmental stages of quinoa salt bladders.

[Prenatal diagnosis of a fetus with mosaicism ring chromosome 2].

Objective: To explore the genetic basis for a fetus with increased risk for Down syndrome and cardiac anomalies discovered by prenatal ultrasonography.

Methods: A pregnant woman presented at the Women and Children's Hospital of Ningbo University on August 21, 2023 were selected as the study subject. Clinical data were retrospectively analyzed.

Screening and Predictive Biomarkers for Down Syndrome Through Amniotic Fluid Metabolomics.

Background: Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy of all or part of chromosome 21. It is characterized by significant intellectual disability, distinct facial features, and growth and developmental challenges. The utilization of metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools and screening methods for investigating the early pathophysiology of trisomy 21 at the functional level.

Carrier frequency and incidence estimation of deficiency of adenosine deaminase 2 in the Chinese population based on massive exome sequencing data.

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease characterised by early onset stroke, recurrent fever, and diverse vascular pathologies, caused by loss-of-function homozygous or compound heterozygous variants of ADA2. This research aimed to determine the carrier frequency and expected incidence of DADA2 in China, using massive exome sequencing (ES) data. A total of 50 likely pathogenic/pathogenic variants (LP/PVs) were identified among 69,413 Chinese individuals, including 20 novel and rare variants (<0.

Silibinin inhibits PM2.5-induced liver triglyceride accumulation through enhancing the function of mitochondrial Complexes I and II.

Background: The standardized extract of milk thistle seeds, known as silibinin, has been utilized in herbal medicine for over two centuries, with the aim of safeguarding the liver against the deleterious effects of various toxic substances. However, the role of silibinin in Particulate Matter (PM2.5)-induced intrahepatic triglyceride accumulation remains unclear.

[Clinical features and genetic analysis of four children with Phelan-McDermid syndrome].

Objective: To explore the clinical characteristics and genetic etiology of four children with Phelan-McDermid syndrome (PMS).

Methods: Four children who had visited the Ningbo Women and Children's Hospital between June 2, 2022 and May 8, 2023 were selected as the study subjects. Clinical data of the children were collected.

Biodegradation of Cyromazine by sp. M15: Performance, Degradation Pathways, and Key Enzymes.

Cyromazine, a triazine insecticide, raises food safety concerns due to residues in vegetables like cowpeas. Microbial metabolism is key for pesticide elimination, but bacteria efficient in cyromazine degradation are limited, with uncharacterized enzymes. This study isolated a highly efficient cyromazine-degrading bacterium, sp.

Bacterial growth and environmental adaptation via thiamine biosynthesis and thiamine-mediated metabolic interactions.

Understanding the ancestral transition from anaerobic to aerobic lifestyles is essential for comprehending life's early evolution. However, the biological adaptations occurring during this crucial transition remain largely unexplored. Thiamine is an important cofactor involved in central carbon metabolism and aerobic respiration.

[Clinical features and genetic analysis of a case with CHARGE syndrome due to variant of CHD7 gene].

Objective: To explore the genetic basis for child with CHARGE syndrome.

Methods: A child who was diagnosed at Ningbo Women and Children's Hospital on September 29, 2022 was selected as the study subject. Relevant clinical data were collected.

Successful Electroconvulsive Therapy in a Patient With Catatonia and Maternal Duplication 15q11-13 Syndrome.

The 15q11-q13 chromosomal region contains genes encoding for GABA-A receptor subunits and is a known region of epigenetic modification associated with the development of neurodevelopmental disorders. The presence of at least one additional copy of the maternal 15q11-q13 results in a syndrome (maternal dup15q) characterized by intellectual disability, autism spectrum disorder, mood disorders, and epilepsy. Catatonia is a serious syndrome of behavioral and motor dysfunction, which occurs across a variety of psychiatric, neurologic, and general medical conditions, which has successfully been treated with benzodiazepines and electroconvulsive therapy.

[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes].

Objective: To explore the clinical characteristics and molecular basis for children and adolescents with monogenic diabetes.

Methods: A retrospective analysis was carried out for the clinical manifestations and laboratory data of 116 children and adolescents diagnosed with diabetes at Ningbo Women and Children's Hospital from January 2020 to March 2023. Whole exome sequencing and mitochondrial gene sequencing were carried out on 21 children with suspected monogenic diabetes.

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.

Background: Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conductive hearing loss. Two cases of Treacher Collins syndrome with TCOF1(OMIM:606847) gene variations were reported in the article, with clinical characteristics, gene variants and the etiology.

Methods: The clinical data of two patients with Treacher Collins syndrome caused by TCOF1 gene variation were retrospectively analyzed.