Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Background: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the gene, which is essential for the sialic acid biosynthesis pathway.

Objective: This multi-centre study aimed to delineate the clinical phenotype and variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations.

Methods: We retrospectively analysed variants from 113 patients, integrating these data with external variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity.

The diagnostic performance of the one-step nucleic acid amplification assay for the detection of sentinel lymph node metastases in cytokeratin 19-positive breast cancer: a PRISMA-compliant meta-analysis.

Background: The status of the sentinel lymph nodes (SLNs) is an important prognostic factor for many different types of cancer. The one-step nucleic acid amplification (OSNA) assay has emerged as a rapid intraoperative molecular diagnostic tool for LN metastasis detection. We aimed to evaluate and summarize the value of the OSNA assay for the diagnosis of SLN metastasis in cytokeratin 19 (CK19)-positive breast cancer.

Ratiometric Imaging Detection of Amyloid-β Fibrils by a Dual-Emissive Tris-Heteroleptic Ruthenium Complex.

Two dual fluorescent/phosphorescent tris-heteroleptic mononuclear Ru(ΙΙ) complexes ( and ) were designed and applied in amyloid-β (Aβ) sensing. These complexes have a general formula of [Ru(phen)(dppz)()](PF), where is (2-pyrazinyl)(2-pyridyl)(methyl)amine (H-) with different substituents (-OMe for , -H for ), phen is 1,10-phenanthroline, and dppz is dipyridophenazine, respectively. Compared with the previously reported ratiometric probe with a di(pyrid-2-yl)(methyl)amine ligand, complex can be employed for not only ratiometric emissive detection of Aβ aggregation but also ratiometric imaging detection of Aβ fibrils.

Pediatric Oral Health Service Access in Racial/Ethnic Minority Neighborhoods: A Geospatial Analysis in Washington, D.C., USA.

Oral health plays a crucial role in overall well-being. One of the goals set by the US Department of Health and Human Service, Healthy People 2030 is to reducing dental caries in children and adolescents. The study aims to investigate the accessibility of pediatric dental care in neighborhoods with mixed-race and predominantly African American populations in the Washington District of Columbia (DC) area.

Benefits of Chinese family caregivers of patients with urostomy: a qualitative study.

Background: Family caregivers, also known as informal caregivers, are critical for the home care of patients with urostomy. The present study aimed to investigate the benefits of family caregivers in China while taking care of patients with urostomy from a positive perspective.

Methods: A qualitative research design was adopted, with a thematic analysis.

Predictive value of immediate early response 5 like (IER5L) in the prognosis and immune checkpoint blockade therapy of non-small cell lung cancer patients.

Background: Non-small cell lung cancer (NSCLC) is a malignancy with high mortality. Immediate early response 5 like (IER5L) has been found to associate with worse prognosis in colorectal cancer patients. However, its role in the prognosis prediction of NSCLC has remained largely unknown.

Predisposing, Enabling, and Need Factors Associated with Psychotropic Medication and Mental Health Service Use among Children in Out-of-Home Care in the United States: A Scoping Review.

This scoping review aimed to identify predisposing, enabling, and need factors associated with the use of mental health services, including psychotropic medications, among children in out-of-home care in the United States. We searched the PsycInfo, SocINDEX, Medline, and Scopus databases, and 22 studies met inclusion criteria and were systematically analyzed. Among the included studies, 7 studies examined predictors associated with taking psychotropic medications, and 16 examined factors associated with using other mental health services.

[Establishment of risk prediction nomograph model for sepsis related acute respiratory distress syndrome].

Objective: To explore the risk factors of acute respiratory distress syndrome (ARDS) in patients with sepsis and to construct a risk nomogram model.

Methods: The clinical data of 234 sepsis patients admitted to the intensive care unit (ICU) of Tianjin Hospital from January 2019 to May 2022 were retrospectively analyzed. The patients were divided into non-ARDS group (156 cases) and ARDS group (78 cases) according to the presence or absence of ARDS.

Sickle cell disease: Contributing factors and radiological assessments.

Sickle Cell Disease (SCD) is genetically described as an autosomal blood disorder resulting from the presence of a mutated form of hemoglobin. Morbidity, frequency of crisis, degree of anemia, and organ systems involved vary considerably per patient. Dental health professionals and other specialists commonly request comprehensive medical consultations prior to performing complex periodontal, endodontic, and surgical procedures.

Remote ischemic postconditioning ameliorates stroke injury via the SDF-1α/CXCR4 signaling axis in rats.

Remote Ischemic Postconditioning (RIPostC) has become a research hotspot due to its protective effect on the brain in clinical studies related to ischemic stroke. The purpose of this study is to investigate the protective effect of RIPostC after ischemic stroke in rats. The middle cerebral artery occlusion/reperfusion (MCAO/R) model was established by the wire embolization method.

Case report: Novel compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II.

Glutaric aciduria type II (GA II) is an autosomal recessive metabolic disorder of fatty acid, amino acid, and choline metabolism. The late-onset form of this disorder is caused by a defect in the mitochondrial electron transfer flavoprotein dehydrogenase or the electron transfer flavoprotein dehydrogenase () gene. Thus far, the high clinical heterogeneity of late-onset GA II has brought a great challenge for its diagnosis.

Hypothalamic hypernatremic myopathy: A single-center case series.

Introduction/aims: Hypernatremia myopathy is a rare disease often unrecognized by clinicians. This study aimed to present a case series of hypernatremic myopathy with an emphasis on profiling its clinical characteristics and exploring its pathogenesis.

Methods: We reviewed seven patients with hypernatremic myopathy and reported their demographic data, etiology, clinical manifestations, and laboratory and electrophysiological characteristics.

Identification of immune-related features involved in Duchenne muscular dystrophy: A bidirectional transcriptome and proteome-driven analysis.

Background: We aimed to investigate the biological mechanism and feature genes of Duchenne muscular dystrophy (DMD) by multi-omics and experimental verification strategy.

Methods: We integrated the transcriptomic and proteomic methods to find the differentially expressed mRNAs (DEMs) and proteins (DEPs) between DMD and Control groups. Weighted gene co-expression network analysis (WGCNA) was then used to identify modules of highly correlated genes and hub genes.

A home visit program for low-income African American children with asthma: Caregivers' perception of asthma triggers and a gap in action.

Purpose: The goals are to gauge caregivers' knowledge of at-home asthma triggers and identify the areas on which educational campaigns can focus to alleviate a child's asthma symptoms.

Design And Methods: Families with children with moderate to severe asthmatic symptoms who had been recently hospitalized or in the emergency room were invited to participate in a home visit program. As part of the home visit, caregivers of the asthmatic children were asked a series of questions on asthma triggers and the measures for eliminating the triggers (N = 218).

The Prediction of Surgery Outcomes in Abdominal Tumor Patients with Sepsis by Pcv-aCO2/Ca-cvO2.

Background: To determine whether Pcv-aCO2/Ca-cvO2 combined with Pcv-aCO2 could predict the outcomes in patients complicated with abdominal infection and sepsis after abdominal tumor operation.

Methods: Total 92 patients admitted to our hospital from January 2017 to December 2020 who underwent abdominal tumor operation were enrolled. Blood gas analysis of artery and central vein, various laboratory indexes, SOFA score, hemodynamic parameters at different time points and treatment outcome were recorded.

Safety and efficacy of tyrosine kinase inhibitors for the treatment of multiple sclerosis: A systematic review and meta-analysis from randomized controlled trials.

Background: Multiple sclerosis (MS), an autoimmune disease, is characterized by inflammatory demyelinating lesions in the white matter of the central nervous system. Drugs targeting tyrosine kinase, a critical component of immune cell receptor signaling, have been developed to treat MS. However, the exact efficacy and safety of tyrosine kinase inhibitors (TKIs) are still controversial, and comprehensive analysis with a high level of evidence is needed.

Features of MRI honeycomb edema signals in cancer-associated dermatomyositis patients: a brief report.

Dermatomyositis (DM) is an autoimmune inflammatory disease that is a possible paraneoplastic phenomenon. The aim of this study was to explore the difference in thigh MRI findings between DM patients with and without cancer to further assist clinicians in the early discovery of underlying malignancy. Thigh muscle MRI with T2 fs/STIR images obtained from 47 patients diagnosed with DM at a single center were retrospectively assessed for the involvement of muscle compartments, as well as the pattern and distribution of the edema signal.

Case report: A novel p.Ser168GlufsTer19 mutation in a Chinese family with ataxia with oculomotor apraxia type 1.

Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal sensorimotor peripheral neuropathy, dystonia, chorea, and cognitive impairment are common associated symptoms, as are hypoalbuminemia and hypercholesterolemia.

Discrepancies between children's and caregivers' child maltreatment reporting and their associations with child wellbeing.

Background: Child maltreatment reporting is critical for case investigation and service disposition. However, reporting discrepancies across informants is a challenge for child welfare services.

Methods: Using data from the Fragile Families and Child Wellbeing Study (n = 3150), the current study examined child-caregiver discrepancies in reporting the frequencies of psychological and physical maltreatment.

Activation of cGAS-STING pathway - A possible cause of myofiber atrophy/necrosis in dermatomyositis and immune-mediated necrotizing myopathy.

Objective: The objective was to investigate the expression of the cGAS-STING pathway-associated protein in idiopathic inflammatory myopathy (IIM) and to investigate whether it is related to myofiber atrophy/necrosis in patients with dermatomyositis and immune-mediated necrotizing myopathy.

Material And Methods: Muscle specimens obtained by open biopsy from 26 IIM patients (14 with dermatomyositis (DM), 8 with immune-mediated necrotizing myopathy (IMNM), and 4 with other types of IIM), 4 dystrophinopathy, and 9 control patients were assessed for expression of cGAS-STING pathway members via Western blot, quantitative real-time PCR analysis (qRT-PCR), and immunochemistry. Meanwhile, analysis its location distribution througn immunochemistry.

A Case Study of Community-Academic Partnership in Improving the Quality of Life for Asthmatic Urban Minority Children in Low-Income Households.

Community-academic partnerships (CAPs) are being increasingly used to study and address health disparity issues. CAPs help to create new bodies of knowledge and innovative solutions to community problems, which benefits the community and academia. Supported by a grant, a partnership was formed between an academic research team and a community health organization to analyze and interpret data collected from the caregivers of asthmatic African American children living in urban low-income households.

Artesunate restores mitochondrial fusion-fission dynamics and alleviates neuronal injury in Alzheimer's disease models.

Alzheimer's disease (AD) remains a leading cause of dementia and no therapy that reverses underlying neurodegeneration is available. Recent studies suggest the protective role of artemisinin, an antimalarial drug, in neurological disorders. In this study, we investigated the therapeutic potential of artesunate, a water-soluble derivative of artemisinin, on amyloid-beta (Aβ)-treated challenged microglial BV-2, neuronal N2a cells, and the amyloid precursor protein/presenilin (APP/PS1) mice model.

Oral Health Service Access in Racial/Ethnic Minority Neighborhoods: A Geospatial Analysis in Washington, DC, USA.

Previous studies on individual-level variables have improved our knowledge base of oral health service use. However, environmental or contextual variables are also important in understanding oral health disparities in racial and ethnic neighborhoods. Based on Bronfenbrenner’s ecological framework, this study examines the geographic availability of oral health providers in Washing-ton DC, U.