Vitamin K2 deficiency and its association with short stature in children: A cross-sectional study.

Objectives: This study examines the relationship between vitamin K2 (VK2) status and the occurrence of short stature in children.

Methods: A cross-sectional analysis was conducted between January 2021 and August 2022, involving 235 children with a clinical diagnosis of short stature at the Second Affiliated Hospital of Wenzhou Medical University (short stature group) and 454 children with average height (±1 SD) from the same period (healthy group). Serum VK2 levels were compared between the two groups.

Impacts of mining on the diversity of benthic macroinvertebrates - A case study of molybdenum mining area in Luanchuan county.

Mineral exploitation is one of the human activities that seriously affect freshwater ecosystems. It is of great significance to study the impact of mining on the α and β diversity of macroinvertebrates. This study reveals the response of taxonomic and functional α and β diversity of macroinvertebrates to mining activities in the Luanchuan molybdenum mining area.

An analysis of vitamin K status in Chinese healthy children aged 0-18 years.

Background: Vitamin K (VK), an essential fat-soluble nutrient, exists in two primary forms, vitamin K1 (VK1), and vitamin K2 (VK2). VK1 plays an essential role in blood coagulation, while VK2 plays a crucial role in managing bone calcification, supporting bone strength and health. However, comprehensive epidemiological data on VK remains sparse, particularly in children.

A Risk Variant rs6922617 in TREM Is Discrepantly Associated With Defining Neuropathological Hallmarks in the Alzheimer's Continuum.

The single nucleotide polymorphism (SNP)-rs6922617 in the triggering receptor expressed on myeloid cells (TREM) gene cluster is a potential risk factor for Alzheimer's disease (AD). Here, we examined whether rs6922617 is associated with AD-defining neuropathological hallmarks and memory performance. We assessed the interaction between the variant rs6922617 and levels of beta-amyloid (Aβ), tau pathology, neurodegeneration, namely amyloid-tau-neurodegeneration framework, and cognition functions in 660 healthy controls, 794 mild cognitively impaired, and 272 subjects with AD.

Dynamic influence of maternal education on height among Chinese children aged 0-18 years.

Background: Maternal education is one of key factors affecting nurturing environment which significantly impacts children's height levels throughout their developmental stages. However, the influence of maternal education on children's height is less studied. This study aims to investigate the dynamic influence of maternal education on children's height among Chinese children aged 0-18 years.

Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects.

Diphthamide is a modified histidine residue unique for eukaryotic translation elongation factor 2 (eEF2), a key ribosomal protein. Loss of this evolutionarily conserved modification causes developmental defects through unknown mechanisms. In a patient with compound heterozygous mutations in Diphthamide Biosynthesis 1 (DPH1) and impaired eEF2 diphthamide modification, we observe multiple defects in neural crest (NC)-derived tissues.

USP25 contributes to defective neurogenesis and cognitive impairments.

Both Down syndrome (DS) individuals and animal models exhibit hypo-cellularity in hippocampus and neocortex indicated by enhanced neuronal death and compromised neurogenesis. Ubiquitin-specific peptidase 25 (USP25), a human chromosome 21 (HSA21) gene, encodes for a deubiquitinating enzyme overexpressed in DS patients. Dysregulation of USP25 has been associated with Alzheimer's phenotypes in DS, but its role in defective neurogenesis in DS has not been defined.

Gallic acid inhibits neuroinflammation and reduces neonatal hypoxic-ischemic brain damages.

Neuroinflammation is a leading cause of secondary neuronal injury in neonatal hypoxic-ischemic encephalopathy (HIE). Regulation of neuroinflammation may be beneficial for treatment of HIE and its secondary complications. Gallic acid (GA) has been shown to have anti-inflammatory and antioxidant effects.

A Novel Prognostic Prediction Model for Colorectal Cancer Based on Nine Autophagy-Related Long Noncoding RNAs.

Introduction: Colorectal cancer (CRC) is the most common gastrointestinal cancer and has a low overall survival rate. Tumor-node-metastasis staging alone is insufficient to predict patient prognosis. Autophagy and long noncoding RNAs play important roles in regulating the biological behavior of CRC.

Comparison of Dosimetric Benefits of Three Precise Radiotherapy Techniques in Nasopharyngeal Carcinoma Patients Using a Priority-Classified Plan Optimization Model.

Introduction: Although intensity-modulated radiotherapy (IMRT), volumetric-modulated arc therapy (VMAT) and tomotherapy (TOMO) are broadly applied for nasopharyngeal carcinoma (NPC), the best technique remains unclear. Therefore, this study was conducted to address this issue.

Methods: The priority-classified plan optimization model was applied to IMRT, VMAT and TOMO plans in forty NPC patients according to the latest international guidelines.

The Diagnostic Utility of the Basal Luteinizing Hormone Level and Single 60-Minute Post GnRH Agonist Stimulation Test for Idiopathic Central Precocious Puberty in Girls.

Objective: The present study aimed to assess the diagnostic utility of the Luteinizing hormone (LH) levels and single 60-minute post gonadotropin-releasing hormone (GnRH) agonist stimulation test for idiopathic central precocious puberty (CPP) in girls.

Methods: Data from 1,492 girls diagnosed with precocious puberty who underwent GnRH agonist stimulation testing between January 1, 2016, and October 8, 2020, were retrospectively reviewed. LH levels and LH/follicle-stimulating hormone (FSH) ratios were measured by immuno-chemiluminescence assay before and at several timepoints after GnRH analogue stimulation testing.

Comparison of Induction Chemotherapy Plus Concurrent Chemoradiotherapy and Concurrent Chemoradiotherapy Alone in Locally Advanced Nasopharyngeal Carcinoma.

Purpose: Induction chemotherapy plus concurrent chemoradiotherapy and concurrent chemoradiotherapy alone are both standard treatment regimens for managing locally advanced nasopharyngeal carcinoma. However, the results of comparisons between them in clinical trials vary. Therefore, we designed this meta-analysis to illustrate their advantages and disadvantages in patients with locally advanced nasopharyngeal carcinoma.

Effects of on hyperlipidemia in high-fat diet-induced mouse model.

Introduction: Hyperlipidemia refers to a group of lipid metabolism disorders characterized by increased levels of total cholesterol, triglyceride, and/or low-density lipoprotein cholesterol and/or decreased levels of high-density lipoprotein cholesterol. This study aims to investigate the effects of on lipid metabolism and hepatic steatosis in male mice fed with a high-fat diet by measuring blood lipid, hepatic function and hepatocyte morphology.

Material And Methods: Eighty male Institute of Cancer Research (ICR) mice were fed with a high-fat diet for 6 weeks to establish hyperlipidemic models.

Comparison of induction chemotherapy plus concurrent chemoradiotherapy and induction chemotherapy plus radiotherapy in locally advanced nasopharyngeal carcinoma.

Background: Induction chemotherapy plus concurrent chemoradiotherapy (IC + CCRT) is a standard treatment regimen for locally advanced nasopharyngeal carcinoma (LA-NPC). However, the increased acute toxicity of this intensified chemotherapy may counteract its efficacy. The results of studies focusing on the omission of concurrent chemotherapy (CC) regimens are controversial.

Polydactyly Patient Carried a Mutation of Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome.

Polydactyly frequently exhibits autosomal dominant inheritance, which is characterized by supernumerary fingers or toes. The growth of the limb was controlled by three signaling pathways in three-dimensional axis. Sonic Hedgehog signaling, which controls the anterior to posterior (radial to ulnar) orientation has been suspected to be a main cause for polydactyly.

Assessing Seasonal Nitrate Contamination by Nitrate Dual Isotopes in a Monsoon-Controlled Bay with Intensive Human Activities in South China.

Nitrate (NO) dual isotope analysis was performed in Zhanjiang Bay, which is a closed bay with intensive human activities in South China, to investigate seasonal changes in the main NO sources and their biogeochemical processes in the monsoon-controlled climate. The relatively low N/P ratios in Zhanjiang Bay suggests that nitrogen (N) is a limiting nutrient, which indicates that the increase of N is favorable for phytoplankton proliferation. However, a sufficient amount of ammonium was found in our study area owing to intensive human activities, which can support biological processes.

Typhoon Merbok induced upwelling impact on material transport in the coastal northern South China Sea.

Typhoons frequently affect the South China Sea (SCS), playing an important role in changing the coastal marine system. To determine which process has the greatest impact on material transport in the coastal marine area during a typhoon, the sea temperature, salinity, concentration of nutrients, chlorophyll-a, total suspended matter, and δ13C of particulate organic carbon (δ13C-POC) in the water column of coastal Northern SCS (NSCS) were measured during two cruises in June 2017, in the pre- and post-typhoon Merbok periods. The results show that all parameters changed significantly between the two periods.

Deep soil water storage varies with vegetation type and rainfall amount in the Loess Plateau of China.

Soil-water storage in a deep soil layer (SWSD), defined as the layer where soil water is not sensitive to daily evapotranspiration and regular rainfall events, functions as a soil reservoir in China's Loess Plateau (LP). We investigated spatial variations and factors that influence the SWSD in the 100-500 cm layers across the entire plateau. SWSD generally decreased from southeast to northwest following precipitation gradient, with a mean value of 587 mm.

Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.

Background: Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory. However, the underlying etiology and mechanisms in the majority of Htx cases remain unknown.

Duplication and Deletion of 22q11 Associated with Anomalous Pulmonary Venous Connection.

Anomalous pulmonary venous connection (APVC) is an uncommon congenital anomaly in which pulmonary venous blood flows directly into the right side of the heart or into the systemic veins. To identify whether there is any association between 22q11 CNVs and APVC, we analyzed the clinical data of 86 APVC patients and then studied the CNVs of 22q11 in 86 sporadic APVC patients by multiplex ligation-dependent probe amplification. The results showed that two patients carried the CNVs of 22q11, one patient had the deletion of 22q11 and the other had the duplication of 22q11.

Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.

Congenital heart disease (CHD) is one of the most common birth defects. More than 200 susceptibility loci have been identified for CHDs, yet a large part of the genetic risk factors remain unexplained. Monozygotic (MZ) twins are thought to be completely genetically identical; however, discordant phenotypes have been found in MZ twins.

A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.

Transcription factor TBX1 plays a pivotal role in heart development and has been implicated in 22q11.2 deletion syndrome. The structure of this protein has been elucidated, and several mutations have been identified that disrupt TBX1 localization, DNA/protein-binding, or mRNA expression.

Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.

Myocardial hypertrophy is a common feature of numerous diseases. It is important to distinguish between these diseases in order to enable accurate diagnosis and the administration of appropriate therapy. Using whole‑exome sequencing, the present study aimed to identify a pathogenic mutation in a Chinese family, which may lead to cardiac hypertrophy and Wolff‑Parkinson‑White syndrome.

Oncocytic carcinoma of the salivary gland with thymoma: A case report and review of the literature.

Oncocytic carcinoma (OC) arising in the salivary gland is a very rare tumor with only 32 previously reported cases. In this report, we describe a novel case of oncocytic carcinoma with associated thymoma, which arose in the left parotid gland of a 66-year-old male with a history of a painless left parotid mass for 1 year. Oncocytes are large, polygonal cells that are characterized by marked cellular atypia, frequent mitoses, wide eosinophilic granular cytoplasm, a central nucleus and a prominent nucleolus.