A case report of -related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review.

Recently, mutations have been identified in six genes (, , , , and ) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual development syndrome(HPMRS). Reports involving the rare pathogenic gene, post-GPI attachment to proteins 2 () are quite limited. In this study, we reported two patients with variants related neurodevelopmental disorders from Asian population.

TTK promotes HER2 + breast cancer cell migration, apoptosis, and resistance to targeted therapy by modulating the Akt/mTOR axis.

Background: HER2 + breast cancer is a malignant neoplasm with a high degree of aggressiveness and therapeutic challenge. In recent years, studies have indicated a strong correlation between TTK and various tumors, though its role in HER2 + BRCA remains unclear.

Objectives: Studying the biological function of the TTK gene in HER2 + BRCA and its resistance to targeted therapy it provides new ideas for targeted drug research.

A prospective multicenter birth cohort in China: pregnancy health atlas.

The China Prospective Multi-Center Birth Cohort Study was launched in 2022. In collaboration with medical centers in 12 cities, it aims to establish a high-quality, multidimensional cohort comprising 20,000 natural pregnancy and assisted reproductive families. As of June 26, 2024, 12,911 pregnant women have participated in this study, and 161,122 biological samples have been collected.

Association between overweight or obesity and vitamin D status in preschool children: an epidemiological survey in Beijing, China, 2021-2023.

Background: Previous studies have shown that vitamin D deficiency is a risk factor for obesity in children and adolescents, but most focus on school-age children and adolescents, with little attention paid preschoolers.

Objectives: To explore the relationship between overweight or obesity in the context of vitamin D intake among preschool children in Beijing, and analyze the correlation.

Methods: A total of 51,640 preschoolers (26,775 boys; 24,865 girls), aged 1-6 years, were recruited for physical examination.

A nationwide survey on the management of neonatal respiratory distress syndrome: insights from the MUNICH survey in 394 Chinese hospitals.

Background: At present, preterm infants with respiratory distress syndrome (RDS) in China present higher mortality and morbidity rates than those in high-income countries. The aim of this nationwide survey was to assess the clinical management of RDS in China.

Methods: A nationwide cross-sectional survey to assess adherence to RDS management recommendations was performed.

Female urinary incontinence in China after 15 years' efforts: Results from large-scale nationwide surveys.

Urinary incontinence (UI) is a disease that quietly yet seriously impacts women's health and represents a global health burden that is often neglected. This study aims to systematically assess the prevalence and dynamics of female UI in China, and can inform further policies and have international implications. This study used three nationwide investigations: A national cross-sectional survey in 2021; another nationwide cross-sectional survey in 2006; and data regarding the institutions and physicians providing pelvic floor rehabilitation services from 2005 to 2019.

A multicenter epidemiological survey of iNO use in preterm infants in China.

Objective: To investigate the use of inhaled nitric oxide (iNO) in hospitalized preterm infants in China over 10 years and its clinical outcomes.

Methods: A total of 616 premature infants who were administered iNO in the Neonatology Departments of 5 Class A tertiary hospitals in China for ten years from January 2013 to December 2022 were included retrospectively. Based on their enrollment periods, the patients were divided into two groups: Group 1 from January 2013 to December 2017 and Group 2 from January 2018 to December 2022, respectively.

Predictive factors of stress response of nursing student repeaters under the background of abolishing the final supplementary examination in China.

Background: Academic pressure and frustration stimulation are significant stressors in college students, and response to the prolonged stimuli would cause adverse mental and physical outcomes. However, more is needed to know about the stress response and its predictors among undergraduate nursing students retaking failed course under the background of the abolition of the Final Supplementary Examination in China. This study aimed to investigate the stress response and its predictive factors of nursing student repeaters who are retaking at least one failed course.

The role of Immune cells in Alzheimer's disease: a bidirectional Mendelian randomization study.

Background: Alzheimer's disease (AD) is a leading cause of dementia, characterized by the accumulation of amyloid-beta (Aβ) and hyperphosphorylated tau proteins, leading to neuroinflammation and neuronal damage. The role of the immune system in AD pathogenesis is increasingly recognized, prompting an exploration of the causal relationship between immune cells and AD by using Mendelian randomization (MR) approaches.

Methods: Utilizing genome-wide association study (GWAS) data from European cohorts, we conducted an MR study to investigate the causal links between immune cell phenotypes and AD.

Disease burden of stroke and its subtypes attributable to low dietary fiber in China, 1990-2019.

This study aimed to assess the current status and changing trends of the disease burden of stroke and its subtypes due to low dietary fiber intake in China from 1990 to 2019. In cases of stroke and its subtypes attributable to low dietary fiber, deaths, disability-adjusted life-years (DALYs), age-standardized mortality rates (ASMR), age-standardized DALYs rates (ASDR), and percentage change were used to assess disease burden. Data were obtained from the 2019 global burden of disease study.

GNL3L exhibits pro-tumor activities via NF-κB pathway as a poor prognostic factor in acute myeloid leukemia.

Acute myeloid leukemia (AML) is the leukemia with the worst prognosis, and current knowledge of AML pathogenesis and available therapies for AML remain limited. 40% of AML patients exhibit elevated nuclear factor kappa B (NF-κB) activity, which provides a compelling rationale for targeting the NF-κB pathway in AML. Guanine nucleotide-binding protein-like 3-like protein (GNL3L) is a recently identified pro-oncogene that promotes NF-κB activation in a variety of malignancies.

Burden of ischemic stroke attributable to a high red meat diet in China, 1990-2019: analysis based on the 2019 Global Burden of Disease Study.

Background: The burden of ischemic stroke (IS) linked to high consumption of red meat is on the rise. This study aimed to analyze the mortality and disability-adjusted life years (DALYs) trends for IS attributed to high red meat intake in China between 1990 and 2019 and to compare these trends with global trends.

Methods: This study extracted data on IS attributed to diets high in red meat in China from 1990 to 2019 from the Global Burden of Disease Study (GBD) database.

MATN4 as a target gene of HIF-1α promotes the proliferation and metastasis of osteosarcoma.

Background: Osteosarcoma is a highly malignant bone tumor that exhibits rapid growth and early metastasis. Hypoxia plays a pivotal role in promoting the proliferation and metastasis of osteosarcoma through a series of molecular events, which are partially mediated and regulated by HIF-1α. However, the regulatory network associated with HIF-1α in osteosarcoma remains limited.

Simultaneous primary thyroid MALT lymphoma and papillary thyroid cancer.

The mucosa-associated lymphoid tissue (MALT) lymphoma subtype, specifically extranodal marginal zone B-cell lymphoma, is a rare variant. Within this subtype, primary thyroid MALT lymphoma is an uncommon occurrence. The literature provides limited documentation on thyroid MALT lymphomas, as their prevalence is comparatively lower than in other organ sites.

Targeting histone deacetylase 1 (HDAC1) in the bone marrow stromal cells revers imatinib resistance by modulating IL-6 in Ph + acute lymphoblastic leukemia.

Bone marrow stromal cells (BMSCs) can promote the growth of Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL). Histone deacetylases (HDACs) play essential roles in the proliferation and apoptosis resistance of Ph + ALL cells. In our previous study, inhibiting histone deacetylase 1 (HDAC1) decreases the proliferation of Ph + ALL cells.

NET-targeted nanoparticles for antithrombotic therapy in pregnancy.

Pulmonary embolism caused by deep vein thrombosis (DVT) is a major contributor to maternal morbidity and mortality. There is still an unmet need for safe and effective treatment options for DVT during pregnancy. Recent research has shown that neutrophil extracellular trap (NET) formation plays a very vital role in thrombosis.

Comparative Studies on the Efficacy and Safety of Ainuovirine-Based Versus Efavirenz-Based Antiretroviral Therapy in the Management of Persons Living with HIV: A Real-World Study in Guizhou, China.

In China, non-nucleoside reverse transcriptase inhibitors (NNRTIs) are integral to the antiretroviral therapy (ART) regimen for persons living with HIV (PWH), comprising over 80% of such treatments. To broaden treatment options and improve therapeutic effectiveness, Ainuovirine (ANV), a new NNRTI, was authorized for ART in 2021. Nevertheless, the clinical efficacy of ANV and its impact on blood biochemical markers remain somewhat underexplored.

Constructing a novel prognostic model for triple-negative breast cancer based on genes associated with vasculogenic mimicry.

Background: Research has shown a connection between vasculogenic mimicry (VM) and cancer progression. However, the functions of genes related to VM in the emergence and progression of TNBC have not been completely elucidated.

Methods: A survival risk model was constructed by screening biomarkers using DESeq2 and WGCNA based on public TNBC transcriptome data.