Ferritinophagy mediated by the AMPK/ULK1 pathway is involved in ferroptosis subsequent to ventilator-induced lung injury.

Mechanical ventilation (MV) remains a cornerstone of critical care; however, its prolonged application can exacerbate lung injury, leading to ventilator-induced lung injury (VILI). Although previous studies have implicated ferroptosis in the pathogenesis of VILI, the underlying mechanisms remain unclear. This study investigated the roles of ferritinophagy in ferroptosis subsequent to VILI.

A novel variant in a Chinese pediatric patient with a phenotype distinct from hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.

Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS) is an exceptionally rare disorder resulting from a heterozygous variant in the C-terminal binding protein 1 () gene. To date, a mere two variants (14 patients) have been documented on a global scale. The aim of this study was to identify a causative variant in a Chinese patient, and to determine the potential pathogenicity of the identified variant.

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.

Primary carnitine deficiency (PCD) caused by pathogenic variants in the solute carrier family 22 member 5 () gene is a rare autosomal recessive disease that results in defective fatty acid oxidation. PCD can be detected through tandem mass spectrometry (MS/MS), but transplacental transport of free carnitine from mothers may cause false negatives or positives during newborn screening (NBS). This study aimed to analyze the genetic characteristics of and estimate the prevalence of PCD in the Chinese population, providing useful information for NBS and genetic counseling.

[Application of flat-sided culture tubes during prenatal diagnosis].

Objective: To assess the value of using flat-sided culture tubes for preparing chromosomes through chorionic villi (CV) and amniotic fluid (AF) cell cultures during prenatal diagnosis.

Methods: From February to March 2020, 157 CV samples and 147 AF samples subjected to prenatal diagnosis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects. For each sample, one flat-sided tube and one flask culture were set up by following the standard protocols.

The Epidemiology of Tinea Capitis in Guangxi Province, China.

The aim of this study was to analyze the epidemiological characteristics and pathogen spectrum of tinea capitis in Guangxi, southern China. A multicenter prospective descriptive study was conducted in 8 hospitals across Guangxi. From January 2019 to July 2022, one hundred seventy-one (171) patients diagnosed with tinea capitis were included.

[Clinical analysis of monochorionic-diamniotic twins with genetic discordance].

Objective: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance.

Methods: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately.

CTCF variant begets to short stature by down-regulation of IGF1.

Pathogenic variants in the transcription factor CCCTC-binding factor (CTCF) are associated with mental retardation, autosomal dominant 21 (MRD21, MIM#615502). Current studies supported the strong relationship between CTCF variants and growth, yet the mechanism of CTCF mutation leading to short stature is not known. Clinical information, treatment regimens, and follow-up outcomes of a patient with MRD21 were collected.

Health resource allocation in Western China from 2014 to 2018.

Background: Health equity has persistently been a global concern. How to fairly and appropriately allocate health resources is a research hotspot. While Western China is relatively backward economically and presents difficulties for the allocation of health resources, little attention has been given to the equity of resource allocation there.

[Preimplantation genetic testing for monogenic/single gene disorders in a family with Molybdenum co-factor deficiency].

Objective: To carry out preimplantation genetic testing for monogenic/single gene disorders (PGT-M) for a Chinese family affected with Molybdenum co-factor deficiency due to pathogenic variant of MOCS2 gene.

Methods: A family with molybdenum co-factor deficiency who attended to the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region in April 2020 was selected as the research subject. Trophoblast cells were biopsied from blastocysts fertilized by intracytoplasmic sperm injection.

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the gene.

Objective: The aim of this study was to identify causative variants associated with Allan-Herndon-Dudley syndrome (AHDS) in two unrelated Chinese families, and to determine their potential pathogenicity. We also summarized the core clinical symptoms of AHDS by reviewing the related literature.

Methods: Genomic DNA was isolated from the peripheral blood of AHDS patients and their family members.

Relevant Factors and Intervention Measures of Psychological Stress-Induced Hyperthermia among Medical Staff in Temporary COVID-19 Negative Pressure Wards.

Background: Medical staff working in COVID-19 wards must be isolated and observed for 14 days upon the occurrence of psychological stress-induced hyperthermia (PSH). Such measures could result in great psychological pressure and incur considerable losses in anti-disease resources.

Methods: In this study, the psychological conditions of medical staff were assessed over a period of 7 days in COVID-19 isolation wards of the People's Hospital of Guangxi Zhuang Autonomous Region, China and 7 days after leaving the wards by using the Pittsburgh Sleep Quality Index (PSQI), Generalized Anxiety Disorder Scale (GAD-7), Patient Health Questionnaire-9 (PHQ-9), Impact of Event Scale-Revised (IES-R), and Post-traumatic Stress Disorder (PTSD) Checklist-Civilian Version (PCL-C).

[Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes].

Objective: To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples.

Methods: Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed.

Results: Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms.

Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project.

Objective: To investigate the distribution of aetiologies and outcomes in neonates with prolonged neonatal jaundice.

Design: An observational study.

Setting: Multiple tertiary centres from the China Neonatal Genome Project.

EGF signaling promotes the lineage conversion of astrocytes into oligodendrocytes.

Background: The conversion of astrocytes activated by nerve injuries to oligodendrocytes is not only beneficial to axonal remyelination, but also helpful for reversal of glial scar. Recent studies have shown that pathological niche promoted the Sox10-mediated astrocytic transdifferentiation to oligodendrocytes. The extracellular factors underlying the cell fate switching are not known.

Novel and recurrent ASPM mutations of founder effect in Chinese population.

Purpose: Mutations in ASPM are the most common causes of primary microcephaly (MCPH), which is a rare brain developmental disorder with few studies in Chinese population so far. This study aimed to identify the common pathogenic variants of ASPM and estimated the incidence of MCPH5 in Guangxi population.

Methods: We ascertained six MCPH cases caused by ASPM mutations in Guangxi Zhuang Autonomous Region, Whole-exome sequencing (WES) was performed to uncover the causal variants.

Characteristics of amino acid metabolism in preterm infants in Guangxi, China.

Objectives: To study the characteristics of amino acid metabolism in preterm infants in Guangxi, China.

Methods: A retrospective analysis was performed on the medical data of 30 757 neonates who underwent the screening for inherited metabolic diseases and had negative results in Guangxi Neonatal Disease Screening Center from 2018 to 2020. Among these neonates, there were 28 611 normal full-term infants (control group) and 2 146 preterm infants (preterm birth group).

[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].

Objective: To analyze the metabolic profile and genetic variants for newborns with primary carnitine deficiency (PCD) from Guangxi, China.

Methods: From January 2014 to December 2019, 400 575 newborns from the jurisdiction of Guangxi Zhuang Autonomous Region Newborn Screening Center were subjected to tandem mass spectrometry (MS/MS) analysis. Newborns with positive results for PCD and their mothers were recalled for retesting.

Case Report: Variations in the Gene in Chinese Patients With Hypophosphatasia.

Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to a mild form with late adult onset presenting with non-pathognomonic symptoms. ALP deficiency is the key to the pathogenesis of abnormal metabolism and skeletal system damage in HPP patients.