Development and validation of the self-neglect questionnaire for Chinese hospitalized older adults.

This study developed the Self-neglect Questionnaire for Chinese Hospitalized Older Adults (SNQ-CHOA) and evaluated its psychometric properties. The questionnaire development followed two phases. Phase 1 included item pool construction, content validity examination and pilot study.

Increasing trends of non-tuberculous mycobacteria clinical isolates in Guangzhou, China.

Non-tuberculous mycobacteria (NTM) are one of major public health concern. The current study aimed to find the prevalence trends of NTM in Guangzhou, China from January 2018 to December 2023. A total of 26,716 positive mycobacterial cultures were collected.

Exploring the factor structure of a Chinese version of the CORE-OM: insights from network approach and bifactor modeling.

Objective: The Clinical Outcomes in Routine Evaluation (CORE-OM) is a measure of clinical outcomes that has been widely used in mental health research. Nevertheless, the exploration of the factor structure of the CORE-OM yields diverse results. This study aims to explore the factor structure with an innovative method known as exploratory graph analysis (EGA) and supplemented with bifactor modeling.

CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.

CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculopharyngeal myopathy with leukoencephalopathy. However, since only three patients from a single family were reported, it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/NUTM2B-AS1. Here, using repeat-primed-polymerase chain reaction and long-read sequencing, we identify 12 individuals from 3 unrelated families with CGG repeat expansions in LOC642361/NUTM2B-AS1, typically presenting with oculopharyngodistal myopathy.

Effects of nutritional indices and inflammatory parameters on patients received immunotherapy for non-small cell lung cancer.

Objective: This research explored the relationship between a patient's nutritional state and inflammatory markers and the prognosis of their non-small cell lung cancer (NSCLC) treatment while receiving a combination of chemotherapy and immunotherapy.

Method: This retrospective and single-center analysis included NSCLC patients who received a combination of chemotherapy and immunotherapy at the Department of Oncology at Shanghai Lung Hospital. Patients were categorized based on malnutrition, sarcopenia, sarcopenic obesity, and advanced-lung-cancer-inflammation-index (ALI) scores after collecting nutritional and inflammatory indices.

Adaptation and validation of the Abrams geriatric self-neglect assessment scale among older Chinese people admitted to the hospital.

Objectives: Elder self-neglect is a global public health problem, and older people admitted to the hospital may have a higher risk of self-neglect due to their deteriorating health conditions. This study aimed to translate, adapt and validate the Abrams geriatric self-neglect assessment scale (AGSS) among older Chinese people admitted to the hospital.

Methods: Data were derived from a cross-sectional survey of a convenience sample of 452 older people admitted to a general hospital.

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.

Objective: Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT. Here, we describe causal missense mutations in the gene encoding seryl-tRNA synthetase 1 (SerRS) for 3 families affected with CMT.

Self-neglect among older adults admitted to a Chinese comprehensive hospital in the COVID-19 pandemic era: a cross-sectional study.

This study aims to explore the prevalence of self-neglect and associated factors among older adults admitted to the hospital in the COVID-19 pandemic context. The cross-sectional study conducted at a Chinese comprehensive hospital between January and April 2021, 452 older adults were recruited to complete the Abrams Geriatric Self-Neglect Scale, Social Support Rate Scale, FRAIL scale, Barthel index, Patient Health Questionnaire-9, and 10-item Connor-Davidson Resilience Scale. Multivariate logistic regression was used to explore the factors associated with elder self-neglect.

Peak expiratory flow is a reliably household pulmonary function parameter correlates with disease severity and survival of patients with amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS) is an incurable and fatal neurodegenerative disease; most ALS patients die within 3 to 5 years after symptom onset, usually as a consequence of respiratory failure. In the present study, we aim to screen the survival-related pulmonary function parameters, and to explore the predictive value of peak expiratory flow (PEF) in disease severity and prognosis in patients with ALS.

Methods: The discovery cohort included 202 ALS patients, and the demographic and clinical characteristics of eligible patients were collected and pulmonary function tests were performed using MS-PFT spirometer.

Effects of Short-Term Exercise, Based on Smart Bracelet Monitoring, on Body Composition in Patients Recovering from Breast Cancer.

Objective: We aimed to investigate the effects of exercise, monitored and managed using smart bracelets, on body composition, and quality of life in breast cancer survivors.

Methods: A before-and-after study was conducted in 109 patients who were in the recovery phase of breast cancer and attended the Breast Surgery Department of the Cancer Hospital of Fudan University up to December 2017. Patients were advised to adhere to at least 150 minutes of moderate-intensity exercise per week, and a smart bracelet was issued to each participant to record their daily exercise data for 3 months.

Family Resilience, Parenting Styles and Psychosocial Adjustment of Children With Chronic Illness: A Cross-Sectional Study.

To evaluate the level of parent-reported family resilience, parenting styles and psychosocial adjustment of children with chronic illness and to identify the relationships between family resilience, parenting styles and psychosocial adjustment in families with children with chronic illness. A cross-sectional study was conducted between June 2019 and August 2019. A total of 236 parents of children with chronic illness and 98 parents with healthy children were recruited from general hospitals by convenience sampling.

Serum Uric Acid Levels Predict Mortality Risk in Male Amyotrophic Lateral Sclerosis Patients.

To explore the associations between serum uric acid levels with survival in male and female ALS patients. A longitudinal cohort study was carried out including 313 sporadic and 16 familial ALS patients with repeated serum uric acid measurements. Multivariate Cox regression models were used to evaluate the survival-related factors.

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal-recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations from a Chinese cohort. Two patients harbored c.

Median Nerve-Neurophysiological Index Correlates With the Survival of Patients With Amyotrophic Lateral Sclerosis.

This study aims to explore the association between median nerve-neurophysiological index (NI) and survival of patients with amyotrophic lateral sclerosis (ALS). A retrospective case series with a prospective follow-up study was performed in 238 patients with ALS. Their clinical profiles and NI were recorded.

Relationship of childhood trauma, psychological resilience, and family resilience among undergraduate nursing students: A cross-sectional study.

Purpose: To analyze how family resilience mediates the relationship between childhood trauma and psychological resilience in undergraduate nursing students.

Design And Methods: A cross-sectional survey design was used to investigate 698 nursing undergraduate students (mean age: 18.77 ± 0.

Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1.

Multisystem manifestations in myotonic dystrophy type 1 (DM1) may be due to dosage reduction in multiple genes induced by aberrant expansion of CTG repeats in DMPK, including DMPK, its neighboring genes (SIX5 or DMWD) and downstream MBNL1. However, direct evidence is lacking. Here, we develop a new strategy to generate mice carrying multigene heterozygous mutations to mimic dosage reduction in one step by injection of haploid embryonic stem cells with mutant Dmpk, Six5 and Mbnl1 into oocytes.

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.

Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous inherited neuropathy. Although new causative and disease-associated genes have been identified for CMT2 in recent years, molecular diagnoses are still lacking for a majority of patients. We here studied a cohort of 35 CMT2 patients of Chinese descent, using whole exome sequencing to investigate gene mutations and then explored relationships among genotypes, clinical features, and mitochondrial DNA levels in blood as assessed by droplet digital PCR.

ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease.

Intermediate Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited neuropathies characterized by progressive muscle weakness and atrophy of the distal extremities, distal sensory loss. There were still a large proportion of causative genes for intermediate CMT failed to be identified. Here, using whole-exome sequencing technique, we identified two novel missense mutations in ATP1A1 gene, c.

Correction: 3-deazaneplanocin A protects against cisplatin-induced renal tubular cell apoptosis and acute kidney injury by restoration of E-cadherin expression.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Supplemental Digital Content is available in the text

3-deazaneplanocin A protects against cisplatin-induced renal tubular cell apoptosis and acute kidney injury by restoration of E-cadherin expression.

3-deazaneplanocin A (3-DZNeP) has been used as an inhibitor of enhancer of zeste homolog 2 (EZH2). Here, we explore the role and underlying mechanisms action of 3-DZNeP in abrogating cisplatin nephrotoxicity. Exposure of cultured mouse renal proximal tubular epithelial cells (mTECs) to cisplatin resulted in dose and time-dependent cleavage of caspase-3, decrease of cell viability, and increase of histone H3 lysine 27 trimethylation (H3K27me3), whereas expression levels of EZH2, a major methyltransferase of H3K27me3, were not affected.

Prognostic analysis of amyotrophic lateral sclerosis based on clinical features and plasma surface-enhanced Raman spectroscopy.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a wide range of survival times. We aimed to explore prognostic factors related to short survival based on clinical features and plasma metabolic signatures using surface-enhanced Raman spectroscopy (SERS). One hundred and thirty-eight sporadic ALS cases were enrolled serially, including 62 for the short-duration group (≤3 years) and 76 for the long-duration group (>3 years).