Background: Creutzfeldt-Jakob disease is a rapidly progressive, fatal, transmissible neurodegenerative disorder caused by a prion protein. It is characterized by cognitive decline, motor dysfunction, and eventually, death. It occurs globally with 1 case per one million population/year. And It is still considered rare in countries like the Philippines due to challenges in its diagnosis and the under recognition of its clinical features. As of now, the local prevalence or incidence of this disease in our country remains unknown, as only a single case report has been documented. As of now, the local prevalence or incidence of this disease in our country remains unknown, as only a single case report has been documented. Objective: To report a series of patients with probable sporadic CJD from a tertiary hospital in the Philippines. Materials and Methods: Patients with rapidly developing dementia fulfilling the diagnostic criteria for sCJD were included. All were investigated in detail to find out any possible treatable cause, including electroencephalography (EEG), magnetic resonance imaging (MRI) of the brain, and cerebrospinal fluid analysis. Results: A total of 3 patients with probable sCJD were diagnosed using the European diagnostic criterion from January 2022 to April 2023. The clinical features are consistent with other reported series. All 3 patients had the classical EEG findings, typical MRI features, and positive for 14-3-3 assay, and one was positive for RT-QuIC. Two patients died within 13 months from the disease onset. Conclusion This is the first reported case series of probable sCJD in the Philippines from a tertiary hospital in Metro Manila. Like in our patients, this disease should be considered in individuals with rapidly progressive dementia associated with myoclonus, neuropsychiatric symptoms, akinetic mutism, visual abnormality, and ataxia with signs of pyramidal and extra-pyramidal dysfunction. Although a definitive diagnosis must be histopathological, there are ancillary tests that are currently available that allow us to make a probable diagnosis of sCJD possible. Our study raises question about the prevalence of this disease in the Philippines which needs more validated studies from other parts of the country.
Creutzfeldt-Jakob Syndrome ; Neurodegenerative Diseases

Objectives: This study aims to determine the prevalence of psychiatric disorders in the sample population in a barangay in the City of Balanga, Bataan using the MINI International and Neuropsychiatric Interview and to describe the profile of those with psychiatric disorders based on sociodemographic and health characteristics. Methods: This is a cross sectional study from Barangay Tenejero, City of Balanga, Bataan done in 2019. Systematic random sampling was done where all zones were included. Sample size was 432 households (with at least one adult per household) based on a level of significance of 5%. Data were obtained using the sociodemographic profile, health profile, MINI International Neuropsychiatric Interview Screen and MINI International Neuropsychiatric Interview 6 done through face-to-face interview. Descriptive statistics were used in analysis. Results: Forty-four of the participants have a diagnosis of at least one psychiatric disorder (10.50%). Of these, the most common psychiatric disorders were major depressive disorder (3.58%) followed by any psychotic disorder (1.91%) and generalized anxiety disorder (1.91%). Among the population, 3.10% have suicidal behavior. Psychiatric disorders are more common among women and people with low incomes. Among those with psychiatric disorders, mental health service utilization is low with only 4.55-6.82%. Conclusion This study reports for the first time the prevalence of psychiatric condition in a barangay in the City of Balanga, Bataan. Though the prevalence rate (10.50%) is low compared to other community data, the findings emphasize the need for strategies to promote mental disorder diagnosis and treatment. This study will influence and guide contextualized community mental health services and policies.
Cross-Sectional Studies ; Mental Disorders ; Psychiatric Status Rating Scales

Humans ; Electronic Nicotine Delivery Systems ; Prevalence ; Mental Disorders/epidemiology* ; Smoking/epidemiology* ; Perception

OBJECTIVES

This study aims to determine the prevalence of psychiatric disorders in the sample population in a barangay in the City of Balanga, Bataan using the MINI International and Neuropsychiatric Interview and to describe the profile of those with psychiatric disorders based on sociodemographic and health characteristics.

This is a cross sectional study from Barangay Tenejero, City of Balanga, Bataan done in 2019. Systematic random sampling was done where all zones were included. Sample size was 432 households (with at least one adult per household) based on a level of significance of 5%. Data were obtained using the sociodemographic profile, health profile, MINI International Neuropsychiatric Interview Screen and MINI International Neuropsychiatric Interview 6 done through face-to-face interview. Descriptive statistics were used in analysis.

Forty-four of the participants have a diagnosis of at least one psychiatric disorder (10.50%). Of these, the most common psychiatric disorders were major depressive disorder (3.58%) followed by any psychotic disorder (1.91%) and generalized anxiety disorder (1.91%). Among the population, 3.10% have suicidal behavior. Psychiatric disorders are more common among women and people with low incomes. Among those with psychiatric disorders, mental health service utilization is low with only 4.55-6.82%.

This study reports for the first time the prevalence of psychiatric condition in a barangay in the City of Balanga, Bataan. Though the prevalence rate (10.50%) is low compared to other community data, the findings emphasize the need for strategies to promote mental disorder diagnosis and treatment. This study will influence and guide contextualized community mental health services and policies.

BACKGROUND

Skin diseases and mental disorders are often correlated. However, the prevalence of this association among outpatients is not well-documented, especially in the Philippines. This study investigated the complex relationship between skin conditions and potential mental disorders, aiming to enhance patient care through a more comprehensive, integrated treatment approach.

To determine the relationship between skin diseases and probable mental disorders among outpatients seen at the dermatology department of a tertiary government hospital in the Philippines.

This descriptive, cross-sectional study included 298 participants. Socio-demographic and clinical profiles were gathered, and a validated screening tool was used to identify probable mental disorders. Analytical statistics were employed to assess the relationship between socio-demographic and clinical profiles, skin diseases, and symptoms suggestive of a mental disorder.

The study results revealed no significant association between specific skin diseases and mental disorders. However, significant correlations were noted between certain sociodemographic and clinical factors—such as employment status, residence, educational attainment, birth order, disease severity, and disease duration—and the presence of probable mental disorders.

The results emphasized the critical role of clinical and sociodemographic factors in determining mental health outcomes in dermatology settings. Incorporating mental health screenings into standard dermatological care enables healthcare providers to greatly improve patient outcomes, providing a more comprehensive and holistic treatment approach.

Objective: To investigate the influence of sleep fragmentation in infancy and toddler period on emotional and behavioral problems at the age of 6 years. Methods: Using a prospective cohort design, 262 children were extracted from mother-child birth cohort recruited from May 2012 to July 2013 in Renji Hospital, School of Medicine, Shanghai Jiao Tong University. Children's sleep and physical activities were assessed using actigraphy at 6, 12, 18, 24, and 36 months of age, from which the sleep fragmentation index (FI) at each follow-up point was calculated. Children's emotional and behavioral problems at 6 years of age were assessed using the strengths and difficulties questionnaire. Group-based trajectory model was applied to determine sleep FI in infancy and toddler period trajectory groups with Bayesian information criteria being used to determine the best fitting model. Children's emotional and behavioral problems between groups were examined with independent t test and linear regression models, etc. Results: A total of 177 children, with 91 boys and 86 girls, were included in the final analysis and were divided into 2 groups: high FI group (n=30) and low FI group (n=147). Compared with children in the low FI group, those in the high FI group presents with higher total difficulties score and higher hyperactivity or inattention score ((11.0±4.9) vs. (8.9±4.1), (4.9±2.7) vs. (3.7±2.3) scores, t=2.17, 2.23, both P<0.05, respectively), with the differences remaining significant after adjusting for covariates (t=2.08, 2.09, both P<0.05 respectively). Conclusion: High sleep fragmentation in infancy and toddler period is associated with more emotional and behavioral problems, especially hyperactivity or inattention problems, at 6 years of age.
Male ; Female ; Humans ; Infant ; Child, Preschool ; Child ; Cohort Studies ; Problem Behavior/psychology* ; Sleep Deprivation ; Prospective Studies ; Bayes Theorem ; China ; Surveys and Questionnaires

The causes of mental disorders are complex, and early recognition and early intervention are recognized as effective way to avoid irreversible brain damage over time. The existing computer-aided recognition methods mostly focus on multimodal data fusion, ignoring the asynchronous acquisition problem of multimodal data. For this reason, this paper proposes a framework of mental disorder recognition based on visibility graph (VG) to solve the problem of asynchronous data acquisition. First, time series electroencephalograms (EEG) data are mapped to spatial visibility graph. Then, an improved auto regressive model is used to accurately calculate the temporal EEG data features, and reasonably select the spatial metric features by analyzing the spatiotemporal mapping relationship. Finally, on the basis of spatiotemporal information complementarity, different contribution coefficients are assigned to each spatiotemporal feature and to explore the maximum potential of feature so as to make decisions. The results of controlled experiments show that the method in this paper can effectively improve the recognition accuracy of mental disorders. Taking Alzheimer's disease and depression as examples, the highest recognition rates are 93.73% and 90.35%, respectively. In summary, the results of this paper provide an effective computer-aided tool for rapid clinical diagnosis of mental disorders.
Humans ; Mental Disorders/diagnosis* ; Alzheimer Disease/diagnosis* ; Brain Injuries ; Electroencephalography ; Recognition, Psychology

OBJECTIVE: To explore the clinical phenotype and genetic basis of a child with early onset neurodevelopmental disorder with involuntary movement (NEDIM). METHODS: A child who presented at Department of Neurology of Hunan Children's Hospital on October 8, 2020 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was searched from the CNKI, PubMed and Google Scholar databases to summarize the clinical phenotypes and genetic variants of the patients. RESULTS: This child was a 3-year-and-3-month boy with involuntary trembling of limbs and motor and language delay. WES revealed that the child has harbored a c.626G>A (p.Arg209His) variant of the GNAO1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant had been reported in HGMD and ClinVar databases, but not in the dbSNP, ExAC and 1000 Genomes databases. Prediction with SIFT, PolyPhen-2, and Mutation Taster online software suggested that the variant may be deleterious to the protein function. By UniProt database analysis, the encode amino acid is highly conserved among various species. Prediction with Modeller and PyMOL software indicated that the variant may affect the function of GαO protein. Based on the guideline of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic. CONCLUSION The GNAO1 gene c.626G>A (p.Arg209His) variant probably underlay the NEDIM in this child. Above finding has expanded the phenotypic spectrum of GNAO1 gene c.626G>A (p.Arg209His) variant and provided a reference for clinical diagnosis and genetic counseling.
Humans ; Computational Biology ; Genetic Counseling ; Genomics ; Mutation ; Neurodevelopmental Disorders/genetics* ; Dyskinesias ; GTP-Binding Protein alpha Subunits, Gi-Go

Objective:By detecting the levels of proteins in the Toll-like receptor-4/nuclear factor-κB （TLR4/NF-κB） signaling pathway and downstream proinflammatory cytokines in peripheral blood of patients with Meniere's disease （MD）, Pittsburgh Sleep Quality Index （PSQI） scores were collected to investigate the correlation between sleep disorders and MD and the role of TLR4/NF-κB signaling pathway in mediating sleep disorders inducing MD. Methods:Thirty-two MD patients and 20 family members of patients without middle ear and inner ear related diseases were selected. Basic data, PSQI and fasting peripheral blood of all subjects were collected. Enzyme linked immunosorbent assay.The levels of interleukin-1β（IL-1β）, tumor necrosis factor-α（TNF-α）, monocyte chemokine-1（MCP-1）, Toll-like receptor 4（TLR4） and nuclear factor-κB（NF-κB） in peripheral blood were detected by ELISA, and the data were statistically analyzed. Results:①PSQI score of MD group was higher than that of normal control group, and the difference was statistically significant（P<0.01）; The scores of every factors of PSQI in MD group were higher than those in normal control group, and the scores of factors 2, 4 and 6 were significantly different from those in normal control group. ②In the MD group, there were 18 patients with sleep disorders, with a prevalence rate of 56.25%, including 6 males with a prevalence rate of 50.00% and 12 females with a prevalence rate of 60.00%. ③The levels of five test indexes in MD group, sleep disorder group and non-sleep disorder group were higher than those in control group, and the levels of TLR4 and NF-κB in MD group were significantly different from those in control group（P<0.05）. The levels of IL-1β, TNF-α, TLR4 and NF-κB in sleep disorder group were significantly different from those in control group（P<0.05）. The levels of five test indexes in non-sleep disorder group were not statistically significant compared with those in control group. The levels of five test indexes in the MD sleep disorder group were higher than those in the MD group and the non-sleep disorder group, with no statistical significance. The levels of five test indexes in MD group were higher than those in non-sleep disorder group, with no statistical significance（P>0.05）. Conclusion:①Sleep disorders may be one of the important predisposing factors of some MD, and the effects of sleep disorders on MD are different between the sexes. ②Sleep disorders may activate TLR4/NF-κB signaling pathway to induce MD. The selection of TLR4/NF-κB signaling pathway related proteins and downstream pro-inflammatory factor inhibitors to intervene MD may provide a new idea for protecting the hearing balance function of MD.
Female ; Humans ; Male ; Meniere Disease ; NF-kappa B/metabolism* ; Signal Transduction ; Sleep Deprivation ; Toll-Like Receptor 4 ; Tumor Necrosis Factor-alpha/metabolism*

OBJECTIVE: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB). METHODS: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Child ; Female ; Humans ; Pregnancy ; Autistic Disorder/genetics* ; Brain ; Computational Biology ; Genetic Counseling ; Mutation ; Nerve Tissue Proteins/genetics* ; Neuro-Oncological Ventral Antigen ; Neurodevelopmental Disorders ; RNA-Binding Proteins