Quality and Reliability of Adolescent Sexuality Education on Chinese Video Platforms: Sentiment-Topic Analysis and Cross-Sectional Study.

Background: Adolescence is a critical period for lifelong health, which makes access to accurate and comprehensive sexuality education essential. As video platforms become a primary source of information for adolescents, the quality of their content significantly impacts their physical and mental health.

Objective: This study aimed to evaluate the quality, reliability, understandability, and actionability of adolescent sexuality education videos on major Chinese platforms (Bilibili, TikTok or Douyin, and Kwai), analyze associated user comment sentiment and topics, identify predictors of quality and reliability, and provide recommendations.

A Decade of Research on C9orf72 in Frontotemporal Dementia (2014-2024): A Bibliometric Analysis of Global Trends and Hotspots.

Introduction: Frontotemporal dementia (FTD) is the third most frequent dementia and the leading dementia subtype in individuals under 65. The discovery of C9orf72 (chromosome 9 open reading frame 72) GGGGCC abnormal expansion is a major genetic cause of both FTD and amyotrophic lateral sclerosis (ALS), linking these diseases along a clinicopathological spectrum. This study aimed to depict the research landscape of C9orf72 in FTD over the past decade, track emerging research hotspots, and provide insights into under-researched areas.

Progressive encephalomyelitis with rigidity and myoclonus after thymectomy in a woman with myasthenia gravis.

Progressive encephalomyelitis with rigidity and myoclonus (PERM), part of the spectrum of stiff-person syndrome (SPS), is a rare neurological disorder characterized by axial and limb rigidity, painful muscle spasms, hyperekplexia, brainstem signs, and autonomic dysfunction. Here, we present the case of a 44-year-old woman with a history of myasthenia gravis (MG) who had previously undergone a thymectomy. She presented with a 20-day history of startle-induced episodes of generalized rigidity and painful spasms affecting her face, trunk, and limbs.

Bidirectional two-sample Mendelian randomization analysis identifies causal associations between oxidative stress and Parkinson's disease.

Background: Observational studies have shown that oxidative stress (OS) is associated with Parkinson's disease (PD). However, whether such observations reflect cause-effect remains largely unknown. To test this, we performed a two-sample bidirectional Mendelian randomization (MR) analysis to investigate the causal-effects between OS biomarkers and PD.

[Retracted] microRNA‑195 inhibits cell proliferation in bladder cancer via inhibition of cell division control protein 42 homolog/signal transducer and activator of transcription‑3 signaling.

[This retracts the article DOI: 10.3892/etm.2015.

A mini-review of the role of vesicular glutamate transporters in Parkinson's disease.

Parkinson's disease (PD) is a common neurodegenerative disease implicated in multiple interacting neurotransmitter pathways. Glutamate is the central excitatory neurotransmitter in the brain and plays critical influence in the control of neuronal activity. Impaired Glutamate homeostasis has been shown to be closely associated with PD.

Associated factors and abnormal dorsal raphe nucleus connectivity patterns of freezing of gait in Parkinson's disease.

Background: Freezing of gait (FOG) is a common, disabling symptom of Parkinson's disease (PD), and its exact pathophysiological mechanism is still poorly understood. The control of gait is a complex process that may be influenced by emotions modulated by serotonergic networks. Therefore, this study aimed to determine factors associated with FOG in PD patients and to evaluate the importance of the dorsal raphe nucleus (DRN; central node in the serotoninergic system) in FOG pathophysiology.

Case Report: Guillain-Barré Syndrome Characterized by Severe Headache Associated With Metabotropic Glutamate Receptor 5 Antibody.

Autoantibodies to metabotropic glutamate receptor 5 (mGluR5) are known to be the cause of autoimmune encephalitis, particularly limbic encephalitis, closely related to Hodgkin's lymphoma (HL). The involvement of peripheral neuropathy is rarely reported. In our case, mGluR5 antibody was found in a Guillain-Barré syndrome (GBS) patient accompanied by severe headache but without neuropsychiatric manifestations or HL.

MicroRNA-409-3p Targeting at ATXN3 Reduces the Apoptosis of Dopamine Neurons Based on the Profile of miRNAs in the Cerebrospinal Fluid of Early Parkinson's Disease.

Precise recognition of early Parkinson's disease (PD) has always been a challenging task requiring more feasible biomarkers to be integrated to improve diagnostic accuracy. MicroRNAs (miRNAs) of cerebrospinal fluid (CSF) are believed to be potential and promising candidate biomarkers for PD. However, the role of altered miRNAs of CSF play in PD is unclear.

Case Report: Metagenomic Next-Generation Sequencing for Diagnosis of Human Encephalitis and Endophthalmitis Caused by Pseudorabies Virus.

Purpose: The objective of our study was to report a case of encephalitis and endophthalmitis caused by pseudorabies virus (PRV), identified using metagenomic next-generation sequencing (mNGS).

Case Presentation: A 54-year-old worker, from a swine slaughterhouse, developed signs of severe encephalitis, including fever, disturbance of consciousness, hypopnea, and status epilepticus, after finger injury at work. The PRV sequences were successfully identified from the blood, cerebrospinal fluid (CSF), and aqueous humor of the patient through mNGS, which was further verified using a Sanger sequencing.

Assessing the Effects of Vitamin D on Neural Network Function in Patients With Parkinson's Disease by Measuring the Fraction Amplitude of Low-Frequency Fluctuation.

Recently, many studies have shown that low vitamin D (VD) levels may be related to an increased risk of Parkinson's disease (PD), but the underlying mechanisms remain unclear. To explore the relationship between PD and VD levels, as well as to analyze the effects of VD on spontaneous brain activity and explore the possible mechanism of its involvement in PD risk. In a cross-sectional study, we quantified the difference in VD levels between 330 PD patients and 209 healthy controls (HC) to explore the correlation between VD and PD risk.

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to Mutations in Five Patients: A Case Series.

Late-onset multiple acyl-CoA dehydrogenase deficiency (LO-MADD) describes a curable autosomal recessive genetic disease caused by mutations that result in defects in ETF-ubiquinone oxidoreductase. Almost all patients are responsive to riboflavin. This study describes the clinical presentations and genetic characteristics of five LO-MADD patients.

Molecular chaperones and Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disease characterized by progressive death of dopaminergic neurons in the substantia nigra and the formation of Lewy bodies (LBs). Mutations in PD-related genes lead to neuronal pathogenesis through various mechanisms, with known examples including SNCA/α-synuclein (PAKR1), Parkin (PARK2), PINK1 (PARK6), DJ-1 (PARK7), and LRRK2 (PARK8). Molecular chaperones/co-chaperones are proteins that aid the folding of other proteins into a functionally active conformation.

Case Report: Diagnosis of Invasive Liver Abscess Syndrome With Purulent Meningitis in a Patient From Pathogen to Lesions.

As a determinant human pathogen, is known to cause rare liver abscess syndrome (KLAS) which was more common in Asia in early-stage and reported increasingly outside Asia now. Patients with KLAS who have septic metastatic ocular or central nervous system (CNS) lesions are associated with high morbidity and mortality. Relatively infrequent adult community-acquired meningitis have been documented and most were with poor prognosis.

TMEM230 mutation analysis in Parkinson's disease in a Chinese population.

Mutations in TMEM230 were identified as a genetic factor for Parkinson's disease (PD) with typical clinical symptoms and Lewy bodies in a North American population, and a highly prevalent TMEM230 mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5), was found in 7 Chinese families.

Association between polymorphism of COMT gene (Val158Met) with Alzheimer's disease: An updated analysis.

Previous studies have proposed the association between catechol-o-methyltransferase (COMT) Val158Met polymorphism and the risk of Alzheimer's disease (AD). However, there has been no solid conclusion from those reports because of the limited sample size and/or racial diversity. Here we aimed to give an in-depth and accurate evaluation of this association by performing a comprehensive literature search on websites including PubMed, EMBASE, Alzgene database, Cochrane library and Ovid database.

C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China.

Expansion of a GGGGCC hexanucleotide repeat in the gene C9ORF72 is a common pathogenic mutation in families with autosomal dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In order to understand whether pathogenic GGGGCC expansions of C9ORF72 are associated with spinocerebellar ataxia (SCA) in mainland China, we performed an experiment to determine the prevalence of pathogenic hexanucleotide expansions of C9ORF72 in a large cohort of Chinese Han patients with SCA. 411 sporadic patients with SCA and 314 healthy controls were screened for pathogenic hexanucleotide expansions of C9ORF72 utilizing a repeat primed polymerase chain reaction assay.

microRNA-195 inhibits cell proliferation in bladder cancer via inhibition of cell division control protein 42 homolog/signal transducer and activator of transcription-3 signaling.

microRNA (miR)-195 acts as a suppressor in multiple types of malignant tumors, including bladder cancer; however, the detailed function of miR-195 in bladder cancer remains largely unknown. The aim of the present study was to investigate the role of miR-195 in the regulation of bladder cancer cell proliferation and to determine whether cell division control protein 42 homolog (Cdc42)/signal transducer and activator of transcription-3 (STAT3) signaling acts as a downstream effector of miR-195 in bladder cancer cells. Reverse transcription-quantitative polymerase chain reaction was used to determine the expression levels of miR-195 in bladder cancer tissues and normal adjacent tissue.

Association between endothelial nitric oxide synthase 894G>T polymorphism and prostate cancer risk: a meta-analysis of literature studies.

To date, several studies have been conducted to assess the association between endothelial nitric oxide synthase (eNOS) gene 894G > T polymorphism and prostate cancer (PCa) risk, but the results are conflicting. To derive a more precise estimation of the relationship between 894G > T polymorphism and PCa risk, the present meta-analysis was performed. A total of eight case-control studies were included in this meta-analysis.

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currently without a molecular diagnosis. In a two-generation autosomal recessive cerebellar ataxia family, we mapped a linkage to a minimal candidate region on chromosome 16p13.

[Functions of carboxyl-terminus of Hsc70 interacting protein and its role in neurodegenerative disease].

Neurodegenerative diseases are a group of chronic progressive neuronal damage disorders. The cause is unclear, most of them share a same pathological hallmark with misfold proteins accumulating in neurons. Carboxyl-terminus of Hsc70 interacting protein (CHIP) is a dual functional molecule, which has a N terminal tetratrico peptide repeat (TPR) domain that interacts with Hsc/Hsp70 complex and Hsp90 enabling CHIP to modulate the aberrant protein folding; and a C terminal U-box ubiquitin ligase domain that binds to the 26S subunit of the proteasome involved in protein degradation via ubiqutin-proteasome system.

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.

Paroxysmal kinesigenic dyskinesias is a paroxysmal movement disorder characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Although several loci, including the pericentromeric region of chromosome 16, have been linked to paroxysmal kinesigenic dyskinesias, the causative gene has not yet been identified. Here, we identified proline-rich transmembrane protein 2 (PRRT2) as a causative gene of paroxysmal kinesigenic dyskinesias by using a combination of exome sequencing and linkage analysis.