Psychometric properties of the Malay and Chinese Epilepsy Self-Stigma Scale (ESSS).

Objective: Self-stigma means internalizing negative beliefs and attitudes associated with stigmatized identity. This study aimed to translate and validate the Malay and Chinese versions of the Epilepsy Self-Stigma Scale (ESSS).

Methods: The Epilepsy Self-Stigma Scale was translated into the Malay (ESSS-M) and Chinese versions (ESSS-C) according to standard principles and were tested in 100 Malay and 100 Chinese-speaking people with epilepsy (PWE) respectively.

Double Stigma: Reluctance to be referred to a psychiatrist among people with epilepsy and psychiatric comorbidities.

Introduction: Psychiatric comorbidities such as depression and anxiety disorders are highly prevalent among people with epilepsy (PWE). These two co-occurring chronic illnesses could lead to double stigma and negatively impact every aspect of psychiatric and epilepsy care for PWE, especially in help-seeking behavior. We aimed to identify the socio-demographic and clinical factors contributing to reluctance to be referred to a psychiatrist among PWE.

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.

A multicultural comparative study of self-stigma in epilepsy: Differences across four cultures.

Objective: Epilepsy is a neurological disorder characterized by recurrent seizures, exhibiting variance in prevalence and treatment availability across diverse geopolitical contexts and cultural milieus. The stigma associated with epilepsy is a significant global issue affecting the quality of life (QOL) of people with epilepsy (PWE). This study aims to examine the relationship between self-stigma and depressive symptoms in PWE, with a particular emphasis on understanding the manifestations of these across different cultural contexts.

Outcomes of pregnancy in Wilson's disease: a population-based study from multiple centres of the Han population in China.

Objectives: Wilson's disease is an autosomal recessive disorder related to copper metabolism which mostly patients occurs in adolescents, fertility has become a problem that WD needs to face.

Methods: A 21 years retrospective follow up study was conducted and a total of 220 female patients were included to identify patients with outcomes of pregnancy.

Results: Untreated female patients with WD had a spontaneous abortion rate of 44%.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population.

The effect of 20-minute mindful breathing exercise on psychological well-being in epilepsy: A pilot randomized controlled trial.

Introduction: Depression and anxiety are prevalent in epilepsy patients, but psychiatric or psychological services may not be accessible to all patients. This study aimed to determine the effectiveness of the 20-minute mindful breathing on the psychological well-being of PWE using an instructional video.

Method: This was a pilot, assessor-blinded, randomized controlled trial.

Feasibility of psychological screening in a tertiary epilepsy clinic.

Objective: People with epilepsy (PWE) have a high prevalence of developing depression and anxiety. The objective is to determine the feasibility of brief screening tools to screen for depression and anxiety in epilepsy, and the predictive factors.

Method: This is a cross-sectional study in the neurology clinic in a tertiary teaching hospital in Kuala Lumpur.

Caregiver burden for adults with epilepsy in Malaysian families: A qualitative study.

Background: Caregivers of adults with epilepsy (AWE) play an important role in the healthcare pathway of AWE and are described as the "co-client." Being caregivers can be stressful and the negative impacts might accumulate over time, affecting their quality of life and well-being.

Objectives: This qualitative study aimed to explore the lived experience of caregivers of AWE in Malaysian families and understand their caregiving challenges.

Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare genetic prion disease caused by a mutation in the prion protein () gene. It is typically characterized by progressive cerebellar ataxia and slowly progressive dementia. We present a case study of the GSS from China in which a 45-year-old male with a progressive gait and balance disorder developed cerebellar ataxia onset but was misdiagnosed as spinocerebellar ataxia (SCA) for 2 years.

High-risk screening of late-onset Pompe disease: A different early portrait in China.

Introduction: The lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.

Methods: Between August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China.

Key Characteristics of Nitrous Oxide-Induced Neurological Disorders and Differences Between Populations.

Nitrous oxide (NO), commonly known as laughing gas, is inhaled recreationally because it produces the feelings of euphoria and freedom from pain. The risk of neurological dysfunction secondary to NO abuse and its clinical diagnosis are, however, not yet sufficiently recognized, especially in China. Here, we have summarized the key clinical characteristics of NO-induced neurological disorders.

Immune cell shuttle for precise delivery of nanotherapeutics for heart disease and cancer.

The delivery of therapeutics through the circulatory system is one of the least arduous and less invasive interventions; however, this approach is hampered by low vascular density or permeability. In this study, by exploiting the ability of monocytes to actively penetrate into diseased sites, we designed aptamer-based lipid nanovectors that actively bind onto the surface of monocytes and are released upon reaching the diseased sites. Our method was thoroughly assessed through treating two of the top causes of death in the world, cardiac ischemia-reperfusion injury and pancreatic ductal adenocarcinoma with or without liver metastasis, and showed a significant increase in survival and healing with no toxicity to the liver and kidneys in either case, indicating the success and ubiquity of our platform.

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China.

Background: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene. PGBM1 has been reported in only 14 European and American families, and no cognitive impairment phenotype was reported. Its prevalence in Asia is unknown.

The study of Wilson disease in pregnancy management.

Introduction: Pregnancy management in women with Wilson disease (WD) remains an important clinical problem. This research was conducted to investigate how to avoid worsening of WD symptoms during pregnancy and increase pregnancy success in women with WD by identifying the best pregnancy management approaches in these patients.

Patients And Methods: The clinical data of 117 pregnancies among 75 women with WD were retrospectively analyzed.

Identification of and as susceptibility genes for amyotrophic lateral sclerosis.

Objective: A 2-stage genome-wide association was conducted to explore the genetic etiology of amyotrophic lateral sclerosis (ALS) in the Chinese Han population.

Methods: Totally, 700 cases and 4,027 controls were genotyped in the discovery stage using Illumina Human660W-Quad BeadChips. Top associated single nucleotide polymorphisms from the discovery stage were then genotyped in an independent cohort with 884 cases and 5,329 controls.

Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.

Rationale: Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group, which has been confirmed by novel mutations in electron-transferring-flavoprotein dehydrogenase (ETFDH). So far, a few cases have been reported with long-term follow-up. Here we report a case of late-onset MADD where the patient was followed up for 8 years during which time he underwent 2 muscle biopsies and 2 pathological examinations and his symptoms were significantly alleviated after appropriate treatments.

Sex Differences in Clinical Characteristics and Brain MRI Change in Patients With Wilson's Disease in a Chinese Population.

Wilson's disease (WD) is an inborn copper metabolism disease. Sex differences in clinical features of WD patients have been reported; however, the effect of sex on brain MRI is still unclear, especially for Chinese WD patients. Therefore, we aimed to examine sex differences in clinical correlates and brain MRI changes in WD patients in a Chinese Han population.

[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].

Objective: To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.

Methods: Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient.

Results: Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language.

Susceptibility-Weighted Imaging Manifestations in the Brain of Wilson's Disease Patients.

Purpose: It is well known that patients with Wilson's disease (WD) suffer copper metabolism disorder. However, recent studies point to an additional iron metabolism disorder in WD patients. The purpose of our study was to examine susceptibility-weighted imaging (SWI) manifestations of WD in the brains of WD patients.

[Clinical and genetic study of Wilson's disease in affected twins and siblings].

Objective: To study the clinical and genetic characteristics of twins and siblings affected with Wilson's disease (WD).

Methods: Clinical data and blood samples were collected from the subjects after informed consent was obtained. Genomic DNA was extracted and potential mutations in the exons in ATP7B gene were detected with PCR-DNA sequencing.

[Wilson's disease in decision-making functions of Iowa gambling task].

Objective: To explore the presence of impaired decision-making functions of Wilson's disease patients in Iowa gambling task (IGT) and its association with basal ganglia damage.

Methods: Thirty-two IGT patients with WD (WD group) and 29 healthy people (control group) were recruited from the same period. And two options of high and low rewards were selected.