Clinical features of a novel compound heterozygous genotype of the gene: a case report.

Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder with heterogenous clinical manifestations. The present study reports the clinical features of a novel compound heterozygous genotype of the gene in a 14-year-old girl and her 6-year-old sister who had complaints of early-onset low vision. Fundus images revealed retinitis pigmentosa-like changes, and full-field electroretinograms showed no amplitude for the rod or cone response in both patients.

SUMO-specific peptidase 3 mediates the SUMO3 modification of BECN1 to repress cell autophagy in gliomas.

Objective: SUMO Specific Peptidase 3 (SENP3) is involved in the occurrence and development of various cancers. However, its effects on gliomas have been barely reported. Herein, this research was designed to probe the potential mechanisms of SENP3 mediating beclin-1(BECN1) SUMO3 modification in autophagy in gliomas.

Identification of potential biological processes and key genes in diabetes-related stroke through weighted gene co-expression network analysis.

Background: Type 2 diabetes mellitus (T2DM) is an established risk factor for acute ischemic stroke (AIS). Although there are reports on the correlation of diabetes and stroke, data on its pathogenesis is limited. This study aimed to explore the underlying biological mechanisms and promising intervention targets of diabetes-related stroke.

A detection model of cognitive impairment via the integrated gait and eye movement analysis from a large Chinese community cohort.

Introduction: Whether the integration of eye-tracking, gait, and corresponding dual-task analysis can distinguish cognitive impairment (CI) patients from controls remains unclear.

Methods: One thousand four hundred eighty-one participants, including 724 CI and 757 controls, were enrolled in this study. Eye movement and gait, combined with dual-task patterns, were measured.

The prevalence and risk factors study of cognitive impairment: Analysis of the elderly population of Han nationality in Hunan province, China.

Objective: A large number of studies have found that the prevalence of cognitive impairment varies in different regions. However, data on cognitive impairment in the Chinese population is still lacking. The goal of this study was to assess the prevalence of cognitive impairment among the elderly in a region of China and explore the associated risk factors.

Efficacy and Safety of Butylphthalide in Patients With Acute Ischemic Stroke: A Randomized Clinical Trial.

Importance: DL-3-n-butylphthalide (NBP) is a drug for treating acute ischemic stroke and may play a neuroprotective role by acting on multiple active targets. The efficacy of NBP in patients with acute ischemic stroke receiving reperfusion therapy remains unknown.

Objective: To assess the efficacy and safety of NBP in patients with acute ischemic stroke receiving reperfusion therapy of intravenous thrombolysis and/or endovascular treatment.

Effectiveness of a Quality Improvement Intervention on Reperfusion Treatment for Patients With Acute Ischemic Stroke: A Stepped-Wedge Cluster Randomized Clinical Trial.

Importance: Reperfusion therapy is the most effective treatment for acute ischemic stroke but remains underused in China.

Objective: To evaluate the effect of a problem-oriented, culturally adapted, targeted quality improvement intervention on reperfusion therapy for patients with acute ischemic stroke in China.

Design, Setting, And Participants: In this stepped-wedge cluster randomized clinical trial, patients from 16 secondary and 33 tertiary hospitals in China with acute ischemic stroke within 6 hours of symptom onset were consecutively recruited between July 1, 2018, and June 30, 2020.

A detection model for cognitive dysfunction based on volatile organic compounds from a large Chinese community cohort.

Introduction: We explored whether volatile organic compound (VOC) detection can serve as a screening tool to distinguish cognitive dysfunction (CD) from cognitively normal (CN) individuals.

Methods: The cognitive function of 1467 participants was assessed and their VOCs were detected. Six machine learning algorithms were conducted and the performance was determined.

Case report: A homozygous missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.

Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap. Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole exome sequencing followed by Sanger sequencing validation was performed to identify the genetic cause.

Clinical effect of flunarizine combined with duloxetine in the treatment of chronic migraine comorbidity of depression and anxiety disorder.

Background: Migraine is common in primary headaches, and with the development of social economy and the increase in living pressure, the prevalence of migraine has an upward trend.

Objective: To observe the clinical effect of flunarizine combined with duloxetine in the treatment of chronic migraine with comorbid depression and anxiety disorders and to provide a reference for clinical treatment.

Methods: A total of 118 patients with chronic migraine complicated with depression and anxiety disorder admitted to our hospital from June 2018 to August 2020 were selected and divided into two groups according to treatment methods, 59 cases in each group.

Anti-Dopamine Receptor 2 Antibody-Positive Encephalitis in Adolescent.

Autoimmune encephalitic syndromes include mutism, somnolence, movement disorder, and behavioral, or psychiatric symptoms. When paired with bilateral basal ganglia lesions on magnetic resonance imaging, these support the diagnosis of basal ganglia encephalitis (BGE). BGE is a rare but distinct entity of putative autoimmune etiology, with specific basal ganglia inflammation and acute movement disorders.