High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

Discovery of robust and highly specific microbiome signatures of non-alcoholic fatty liver disease.

Background: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) with a global prevalence of 30% is multifactorial and the involvement of gut bacteria has been recently proposed. However, finding robust bacterial signatures of NAFLD has been a great challenge, mainly due to its co-occurrence with other metabolic diseases.

Results: Here, we collected public metagenomic data and integrated the taxonomy profiles with in silico generated community metabolic outputs, and detailed clinical data, of 1206 Chinese subjects w/wo metabolic diseases, including NAFLD (obese and lean), obesity, T2D, hypertension, and atherosclerosis.

Integrated analysis of the prevalence and influencing factors of poststroke dysphagia.

Objectives: Poststroke dysphagia (PSD) is a common complication after stroke but there is limited information on its global prevalence and influencing factors, such as spatial, temporal, demographic characteristics, and stroke-related factors. Our study seeks to fill this knowledge gap by exploring the overall prevalence of PSD and its influencing factors.

Methods: A search of English-language literature from database inception from 2005 until May 2022 was performed using PubMed, Embase, Web of Science, Cochrane Library, and Scopus.

Transcriptome sequencing reveals regulatory genes associated with neurogenic hearing loss.

Hearing loss is a prevalent condition with a significant impact on individuals' quality of life. However, comprehensive studies investigating the differential gene expression and regulatory mechanisms associated with hearing loss are lacking, particularly in the context of diverse patient samples. In this study, we integrated data from 10 patients across different regions, age groups, and genders, with their data retrieved from a public transcriptome database, to explore the molecular basis of hearing loss.

Altered spontaneous brain activity in children with deprivation amblyopia: a resting-state functional magnetic resonance imaging study.

Background: To investigate the alterations in spontaneous brain activity and the similarities and differences between monocular deprivation amblyopia and binocular deprivation amblyopia.

Methods: Twenty children with binocular deprivation amblyopia, 26 children with monocular deprivation amblyopia and 20 healthy controls underwent resting-state functional magnetic resonance imaging. The evaluation of altered spontaneous brain activity was conducted using fractional amplitude of low-frequency fluctuations (fALFF).

Inferior vena cava diameter in patients with chronic heart failure and chronic kidney disease: a retrospective study.

Background: Chronic kidney disease (CKD) carries the highest population attributable risk for mortality among all comorbidities in chronic heart failure (CHF). No studies about the association between inferior vena cava (IVC) diameter and all-cause mortality in patients with the comorbidity of CKD and CHF has been published.

Methods: In this retrospective cohort study, a total of 1327 patients with CHF and CKD were included.

Multiplex one-step RT‒qPCR assays for simultaneous detection of AMDV, MEV and CDV.

Background: Aleutian mink disease, mink viral enteritis and canine distemper are known as the three most serious diseases that cause great economic loss in the mink industry. In clinical practice, aleutian mink disease virus (AMDV), mink enteritis virus (MEV) and canine distemper virus (CDV) are common mixed infections, and they have similar clinical clinical signs, such as diarrhoea. Therefore, a rapid and accurate differential diagnosis method for use on mink ranches is essential for the control of these three pathogens.

Application of failure model and effect analysis in nursing care for patients who have undergone endoscopic sub-mucosal dissection.

Objective: The objective of this study is to investigate the effect after the application of Failure Model and Effect Analysis (FMEA) in nursing care for patients who have undergone endoscopic submucosal dissection (ESD).

Methods: A cohort of 40 patients who underwent ESD between July and September 2023 were selected as the control group, while 42 patients who underwent ESD between October 2023 and June 2024 after implementing FMEA were selected as the observation group. A multidisciplinary team was established based on the FMEA model to analyze and create a nursing flowchart.

Single-cell transcriptomics unveils multifaceted immune heterogeneity in early-onset versus late-onset cervical cancer.

Early-onset (EOCC) and late-onset cervical cancers (LOCC) represent two clinically distinct subtypes, each defined by unique clinical manifestations and therapeutic responses. However, their immunological profiles remain poorly explored. Herein, we analyzed single-cell transcriptomic data from 4 EOCC and 4 LOCC samples to compare their immune architectures.

Effects of levothyroxine therapy on bone and mineral metabolism in hypothyroidism: a systematic review and meta-analysis.

Background: Thyroid hormone plays an important role in accumulating bone development and regulating bone metabolism. It is established that hypothyroidism is linked to increased risk of osteoporosis and fracture. However, the effects of levothyroxine (LT4) treatment on bone for hypothyroid patients remain controversial.

Association between COVID-19 anxiety syndrome and COVID-19 vaccine hesitancy in the postpandemic era: a cross-sectional study in Hong Kong.

Background: The COVID-19 pandemic has had profound psychophysiological and socioeconomic effects worldwide. COVID-19 anxiety syndrome (CAS) is a specific cluster of maladaptive coping strategies, including perseveration and avoidance behaviours, in response to the perceived threat and fear of COVID-19. CAS is distinct from general COVID-19 anxiety.

Total hip arthroplasty in hip tuberculosis: a systematic review.

Objectives: Tuberculosis of the hip joint is a common form of bone tuberculosis that can cause severe joint destruction and affect quality of life. Total hip arthroplasty (THA) is an important way to treat hip joint-related diseases. In recent years, THA has been applied to treat tuberculosis of the hip joint and has achieved certain results.

High interstitial fluid pressure enhances USP1-dependent KIF11 protein stability to promote hepatocellular carcinoma progression.

Background: HCC is characterized by a high interstitial fluid pressure (HIFP) environment, which appears to support cancer cell survival. However, the mechanisms behind this phenomenon are not fully understood.

Methods: This study investigates the role of kinesin family member 11 (KIF11) in HCC under HIFP conditions, using both in vivo and in vitro models.

Nonacademic predictors of China medical licensing examination.

Background: National Medical Licensing Examination (NMLE) is the entrance exam for medical practice in China, and its general medical knowledge test (GMKT) evaluates abilities of medical students to comprehensively apply medical knowledge to clinical practice. This study aimed to identify nonacademic predictors of GMKT performance, which would benefit medical schools in designing appropriate strategies and techniques to facilitate the transition from medical students to qualified medical practitioners.

Methods: In 1202 medical students, we conducted the deletion-substitution-addition (DSA) and structural equation model (SEM) analyses to identify nonacademic predictors of GMKT performance from 98 candidate variables including early life events, physical conditions, psychological and personality assessments, cognitive abilities, and socioeconomic conditions.

Genetic diversity atlas of Brucella melitensis strains from Sichuan Province, China.

Human brucellosis is a re-emerging disease in Sichuan Province, China. In this study, bacteriology, conventional bio-typing, multi-locus sequence typing (MLST), and multiple locus variable-number tandem repeat analysis (MLVA) were applied to preliminarily characterize the strains in terms of genetic diversity and epidemiological links. A total of 101 Brucella strains were isolated from 16 cities (autonomous prefectures) from 2014 to 2021, and all of the strains were identified as Brucella melitensis bv.

Correlation of sarcopenia with progression of liver fibrosis in patients with metabolic dysfunction-associated steatotic liver disease: a study from two cohorts in China and the United States.

Objective: The objective of this study was to investigate the association between sarcopenia and liver fibrosis in patients aged 18-59 years with metabolic dysfunction-associated steatotic liver disease (MASLD) and to assess the potential of sarcopenia as a risk factor for the progression of liver fibrosis.

Methods: The study included 821 patients with MASLD in the US cohort and 3,405 patients with MASLD in the Chinese cohort. Liver controlled attenuation parameters (CAP) and liver stiffness measurements (LSM) were assessed by vibration-controlled transient elastography (VCTE) to evaluate the extent of hepatic steatosis and fibrosis.

A reduction-secretion system contributes to roxarsone (V) degradation and efflux in Brevundimonas sp. M20.

Roxarsone (V) (Rox(V)) is an organoarsenical compound that poses significant risks to aquatic ecosystems and various diseases. Reducing trivalent 3-amino-4-hydroxyphenylarsonic acid (HAPA(III)) offers a competitive advantage; however, it leads to localized arsenic contamination, which can disrupt the soil microbiome and impede plant growth. Three genes, BsntrA, arsC2, and BsexpA, encoding nitroreductase, arsenate reductase, and MFS transporter, respectively, were identified in the Rox(V)-resistant strain Brevundimonas sp.

CircCCT2/miR-146a-5p/IRAK1 axis promotes the development of head and neck squamous cell carcinoma.

Background: Head and neck squamous cell carcinoma (HNSCC), a highly invasive malignancy with a poor prognosis, is one of the most common cancers globally. Circular RNAs (circRNAs) have become key regulators of human malignancies, but further studies are necessary to fully understand their functions and possible causes in HNSCC.

Methods: CircCCT2 expression levels in HNSCC tissues and cells were measured via qPCR.

Clinicopathological characteristics and predictors of renal outcomes in diffuse crescentic glomerulonephritis : a retrospective single-center study from Western China.

Background: The factors influencing diffuse crescentic glomerulonephritis renal survival and prognosis remain uncertain. Additionally, there's no literature on the clinical outcomes of IgA nephropathy, lupus nephritis, and IgA vasculitis nephritis in type II patients.

Methods: This study retrospectively examined 107 patients diagnosed with diffuse crescentic glomerulonephritis through biopsy.

The clinical value of short-term insemination: a retrospective analysis of 3496 patients.

Background: The safety and effectiveness of short-term insemination remain a subject of controversy. This study aims to investigate the impact of short-term insemination on both embryo quality and pregnancy outcomes and whether it is necessary to apply short-term insemination to all patients underwent in vitro fertilization (IVF).

Methods: A retrospective analysis was conducted on 3,496 patients from two centers over the period January 2016 to December 2022.

Effects of aluminum on metabolism of reactive oxygen species and reactive nitrogen species in root tips of different Eucalyptus species.

On acidified soil, the growth of Eucalyptus is seriously restricted by aluminum (Al) stress. Therefore, breeding Eucalyptus species with excellent Al tolerance, developing the genetic potential of species, and improving tolerance to Al stress are important for the sustainable development of artificial Eucalyptus forests. By observing the occurrence and distribution of the main reactive oxygen species (ROS) and reactive nitrogen species (RNS) in root tips of Eucalyptus seedlings under Al stress, this study analyzed change in the growth and physiological indexes of Eucalyptus seedlings under Al stress.

Genome-wide identification and functional roles relating to anthocyanin biosynthesis analysis in maize.

Background: Anthocyanin is an important class of water-soluble pigments that are widely distributed in various tissues of plants, and it not only facilitates diverse color changes but also plays important roles in various biological processes. Maize silk, serving as an important reproductive organ and displaying a diverse range of colors, plays an indispensable role in biotic resistance through its possession of anthocyanin. However, the copy numbers, characteristics, and expression patterns of genes involved in maize anthocyanin biosynthesis are not fully understood.

Comparative analysis of the whole transcriptome landscapes of muscle and adipose tissue in Qinchuan beef cattle.

Background: Muscle and adipose tissue are the most critical indicators of beef quality, and their development and function are regulated by noncoding RNAs (ncRNAs). However, the differential regulatory mechanisms of ncRNAs in muscle and adipose tissue remain unclear.

Results: In this study, 2,343 differentially expressed mRNAs (DEMs), 235 differentially expressed lncRNAs (DELs), 95 differentially expressed circRNAs (DECs) and 54 differentially expressed miRNAs (DEmiRs) were identified in longissimus dorsi muscle (LD), subcutaneous fat (SF) and perirenal fat (VF) in Qinchuan beef cattle.

Unmasking cerebral infarction: hemianopia and heavy menstrual bleeding in a patient with adenomyosis and vascular abnormalities.

Background: Adenomyosis, typically associated with heavy menstrual bleeding and pelvic pain, is rarely linked to neurological complications. This case presents a rare instance of ischemic stroke in a young patient with adenomyosis and vascular abnormalities, underscoring the role of anemia, hypercoagulability, and vascular factors as potential contributors to cerebral infarction.

Case Presentation: We describe a 41-year-old female with a history of adenomyosis who presented with right-sided hemianopia and dizziness following severe menstrual bleeding.

The complete mitochondrial genome of Gyrodactylus pseudorasborae (Platyhelminthes: Monogenea) with a phylogeny of Gyrodactylidae parasites.

Background: Gyrodactylus von Nordmann, 1832, a genus of viviparous parasites within the family Gyrodactylidae, contains one of the largest nominal species in the world. Gyrodactylus pseudorasborae Ondračková, Seifertová & Tkachenko, 2023 widely distributed in Europe and China, although its mitochondrial genome remains unclear. This study aims to sequence the mitogenome of G.