Correlation of enlarged perivascular spaces in basal ganglion and cancer-associated stroke: a case-control study in China.

Introduction: The incidence of cancer-associated ischaemic stroke (IS) is increasingly prevalent. This study aimed to assess the levels of enlarged perivascular spaces in basal ganglion (BG-EPVS) in cancer-associated patients who had a stroke compared with the control group, and to investigate the diagnostic utility of BG-EPVS in the context of cancer-associated stroke.

Method: A matched case-control study was conducted in Xiamen, China.

[Establishing reference ranges of serum vitamin K in healthy children].

To establish and validate reference intervals of serum vitamin K for healthy children in China. A cross-sectional study was conducted from January 2020 to May 2023, involving 807 healthy children aged 0 to 14 years, selected by stratified random sampling based on the population distribution of children in eastern, central, western, and northeastern China. Sample collection was carried out in 16 hospitals across 12 provinces, autonomous regions, and municipalities.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Objectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.

Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.

Case report: Primary pulmonary low grade fibromyxoid sarcoma progressing to dedifferentiation: probably due to driver mutation.

Low Grade Fibromyxoid Sarcoma (LGFMS), a rare entity characterized by bland histologic features, typically affects deep soft tissues of the trunk and lower extremities. Rare cases have been reported arising from the viscera and few demonstrating morphology of high-grade dedifferentiation. Here we report a 39-year-old Chinese woman presenting with primary lung LGFMS, which metastasized to the pancreas five years after diagnosis and then relapsed ten years later as a mediastinum mass.

Associations of type 2 diabetes and the risk of migraine in Chinese populations.

Aim: We aimed to explore the relationship between type 2 diabetes mellitus (T2DM) and the incidence rate of migraine in a Chinese population, and analyze the clinical characteristics of migraine patients with T2DM.

Methods: Data on the study cohort of 9873 individuals were obtained from the China Health and Retirement Longitudinal Study (CHARLS). The incidence rate of migraine from 2015 to 2018 was assessed.

Prognostic analysis of extrameningeal solitary fibrous tumor using the modified Demicco model: a clinicopathologic study of 111 Chinese cases.

Introduction: Solitary fibrous tumor (SFT) represents a fibroblastic neoplasm exhibiting gene rearrangement, displaying diverse clinical manifestations, spanning from benign to malignant. To predict prognosis, the modified (four-variable) Demicco (mDemicco) model was introduced. This investigation aims to authenticate the mDemicco risk model's precision in Asian patients while investigating the clinicopathological and molecular factors linked to the prognosis of extrameningeal SFTs.

Serum neurofilament light chain levels in migraine patients: a monocentric case-control study in China.

Purpose: Serum neurofilament light chain (sNfL) can reflect nerve damage. Whether migraine can cause neurological damage remain unclear. This study assesses sNfL levels in migraine patients and explores whether there is nerve damage in migraine.

Clinical features of renal damage associated with Epstein-Barr virus infection in children.

Objective: To understand the renal damage and clinical features of pediatric patients with acute Epstein-Barr virus (EBV) infection.

Methods: In this retrospective observational study, 548 pediatric patients who were admitted to and treated at the Xiamen Women and Children Health Center between January 2017 and December 2021 and who met the criteria of acute EBV infection were selected as participants. The sociodemographic and clinical data of these patients were collected for statistical analysis.

A child with genetic FN1 mutation in the absence of classic glomerulopathy with fibronectin deposits(GFND) findings on biopsy.

Background: Glomerulopathy with fibronectin deposits (GFND) is a rare autosomal dominant genetic disorder, and proteinuria and hematuria are the most common clinical manifestations. The pathogenesis of this disease is primarily related to mutation of the fibronectin 1 gene. Unfortunately, without specific treatment, the prognosis remains poor.

The risk factors of preterm birth: A multicentre case-control survey in China in 2018.

Objectives: To investigate the risk profile of preterm birth (PTB) in 2018 in China.

Method: A prospective multicentre case-control study was conducted in 15 hospitals located in seven provinces throughout three geographical areas (the Eastern, South-Central and North-Western regions) in China. A total of 3147 preterm (<37 weeks) and 3147 term (37 to 41 weeks) live-birth mothers were included.

Clinical characteristics of plastic bronchitis in children: a retrospective analysis of 43 cases.

Background: With an increase in the diagnosis of plastic bronchitis (PB) cases, to enhance paediatricians' knowledge and add to the few existing studies, we explored the clinical characteristics, diagnosis, and treatment of PB in children.

Methods: The clinicopathological data of 43 children admitted to the Xiamen Children's Hospital and the Women and Children's Hospital, affiliated to the Xiamen University from December 2016 to December 2019, were retrospectively analysed.

Results: All the children had cough, with 41 of them having associated fever.

[Clinical and molecular genetic analysis of a patient with 3-M syndrome].

Objective: To analyze the clinical features and molecular genetic etiology of a patient with 3-M (Miller McKusick Malvaux) syndrome from a consanguineous parentage family, and to explore the relationship between genotype and phenotype.

Methods: After the consent of the proband's guardian and the informed consent form was signed, DNA was extracted from peripheral blood samples of the proband and her parents for chromosome microarray analysis, medical exome sequencing and parental verification.

Results: A total of 247.

[Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation].

Objective: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.

Methods: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.

Results: SNP array analysis showed that there was a 433 kb repeat in 10q24.

Streptococcus pneumoniae autolysin LytA inhibits ISG15 and ISGylation through decreasing bacterial DNA abnormally accumulated in the cytoplasm of macrophages.

Interferon stimulated gene 15 (ISG15) is one of the most robustly upregulated interferon stimulated genes (ISGs) and also a ubiquitin-like modifier which has been reported to play an important role in host defense against pathogens. Cytosolic nucleic acids detected by DNA sensors induce type Ⅰ interferons (IFN-Ⅰs) and ISGs in host cells. Streptococcus pneumoniae (S.

[Research advances in the effect of long-chain polyunsaturated fatty acids on neonates].

Adequate supply of long-chain polyunsaturated fatty acids (LCPUFAs) is of great importance for neonates, especially preterm infants. In particular, -3 LCPUFAs and -6 LCPUFAs play a key role in brain development, immune regulation, and disease prevention. Lack of LCPUFAs may lead to neurodevelopmental impairment, affect the development of neonatal immune system, and result in neonatal diseases.

[Analysis of a patient with primary ciliary dyskinesia caused by DNAH5 variants].

Objective: To explore the genetic basis for a patient with primary ciliary dyskinesia (PCD).

Methods: High-throughput sequencing and bioinformatic analysis were carried out to identify pathogenic variant in the patient. Suspected variant was verified by Sanger sequencing among the family members, and intracytoplasmic sperm injection (ICSI) was used to achieve the pregnancy.

[Establishment of an auxiliary diagnosis system of newborn screening for inherited metabolic diseases based on artificial intelligence technology and a clinical trial].

To establish a disease risk prediction model for the newborn screening system of inherited metabolic diseases by artificial intelligence technology. This was a retrospectively study. Newborn screening data (5 907 547) from February 2010 to May 2019 from 31 hospitals in China and verified data (=3 028) from 34 hospitals of the same period were collected to establish the artificial intelligence model for the prediction of inherited metabolic diseases in neonates.

[Prenatal genetic diagnosis of a partial 21 trisomy fetus with nasal bone dysplasia].

Objective: To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect.

Methods: Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result.

[Clinical and genetic analysis of a patient with 17-hydroxylase/17,20-lyase deficiency].

Objective: To explore the clinical and genetic characteristics of a patient with 17-hydroxylase/17,20-lyase deficiency.

Methods: The patient was infertile without contraception. Laboratory examination showed her chromosomal karyotype to be 46, XX.

Microcystic pattern and shadowing are independent predictors of ovarian borderline tumors and cystadenofibromas in ultrasound.

Objectives: To determine the sonographic characteristics of borderline tumors (BoTs) and cystadenofibromas (CAFs).

Methods: Preoperative sonograms from consecutive patients who had at least one primary epithelial tumor in the adnexa were retrospectively collected. All tumors were described using the International Ovarian Tumor Analysis terminology.

[Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes].

Objective: To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.

Methods: G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.

Diagnosis and treatment of herpangina: Chinese expert consensus.

Background: Herpangina is a common infectious disease in childhood caused by an enterovirus. This consensus is aiming to standardize and improve herpangina prevention and clinical diagnosis.

Methods: The Subspecialty Group of Infectious Diseases, the Society of Pediatric, Chinese Medical Association and Nation Medical Quality Control Center for Infectious Diseases gathered 20 experts to develop the consensus, who are specialized in diagnosis and treatment of herpangina.