Genetic Polymorphism of Matrix Metalloproteinase-9 and Susceptibility to Myocardial Infarction: A Meta-Analysis

Objective. Current findings on the association between MMP-9 rs3918242 and susceptibility to myocardial infarction (MI) are inconsistent, and their definite relationship is discussed in this meta-analysis. Methods. Eligible literatures reporting MMP-9 rs3918242 and susceptibility to MI were searched in PubMed, Cochrane Library, CNRI, and VIP using keywords such as “MMP-9”, “matrix metallopeptidase-9” and “myocardial infarction”, “acute myocardial infarction”, “AMI”, and “polymorphism”. Data from eligible literatures were extracted for calculating OR and corresponding 95% CI using RevMan 5.3 and STATA12.0. Results. Ten independent literatures reporting MMP-9 rs3918242 and susceptibility to MI were enrolled. Compared with subjects carrying CT&TT genotype of MMP-9 rs3918242, susceptibility to MI was lower in those carrying CC genotype ( OR = 1.49 , 95 % CI = 1.19 – 1.86 , P = 0.0004 ). Such a significance was observed in the overdominant ( OR = 1.27 , 95 % CI = 1.14 – 1.41 , P < 0.0001 ) and allele genetic models ( OR = 1.43 , 95 % CI = 1.17 – 1.74 , P = 0.0005 ) as well. This finding was also valid in the Asian population. Conclusions. Mutation on MMP-9 rs3918242 has a potential relevance with susceptibility to MI.

Genetic continuity of Indo-Iranian speakers since the Iron Age in southern Central Asia

Since prehistoric times, southern Central Asia has been at the crossroads of the movement of people, culture, and goods. Today, the Central Asian populations are divided into two cultural and linguistic groups: the Indo-Iranian and the Turko-Mongolian groups. Previous genetic studies unveiled that migrations from East Asia contributed to the spread of Turko-Mongolian populations in Central Asia and the partial replacement of the Indo-Iranian populations. However, little is known about the origin of the latters. To shed light on this, we compare the genetic data on two current-day Indo-Iranian populations — Yaghnobis and Tajiks — with genome-wide data from published ancient individuals. The present Indo-Iranian populations from Central Asia display a strong genetic continuity with Iron Age samples from Turkmenistan and Tajikistan. We model Yaghnobis as a mixture of 93% Iron Age individual from Turkmenistan and 7% from Baikal. For the Tajiks, we observe a higher Baikal ancestry and an additional admixture event with a South Asian population. Our results, therefore, suggest that in addition to a complex history, Central Asia shows a remarkable genetic continuity since the Iron Age, with only limited gene flow.

Testing the Reliability and Construct Validity of Short-Term Assessment of Risk and Treatability (START) in Non-Western Forensic Psychiatric Inpatients

The Short-Term Assessment of Risk and Treatability (START) is deemed the most appropriate instrument for assessing violence risks and management because of its balanced approach between dynamic risk and protective factors. Although several facets of reliability and predictive validity of this tool were strong, its inter-rater reliability, construct validity, and implementation in Asian population were under-investigated. The objective of this research was to examine the inter-rater reliability and construct validity of the START: Thai version within forensic psychiatric inpatients. The participants consisted of 118 forensic psychiatric inpatients hospitalized at Galya Rajanagarindra Institute in Thailand. Trained mental health professionals (i.e., psychiatrists, forensic nurses, clinical psychologists, social workers, and occupational therapists) assessed each participant across twenty domains of the Thai START. The inter-rater reliability was examined using the intraclass correlation coefficient and a confirmatory factor analysis for ordinal data was used to test the construct validity of the scale. The main finding showed a good-to-excellent inter-rater reliability and supported two relational constructs (i.e., strength vs vulnerability subscales) of the Thai START. The Thai START is a promising tool for using in Thai forensic psychiatric setting but some items were not significant in contributing to the scale. This study also provides the guideline for implementing the tool in non-Western forensic psychiatric populations.

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss

Variants in the CDH23 gene are known to be responsible for both syndromic hearing loss (Usher syndrome type ID: USH1D) and non-syndromic hearing loss (DFNB12). Our series of studies demonstrated that CDH23 variants cause a broad range of phenotypes of non-syndromic hearing loss (DFNB12); from congenital profound hearing loss to late-onset high-frequency-involved progressive hearing loss. In this study, based on the genetic and clinical data from more than 10,000 patients, the mutational spectrum, clinical characteristics and genotype/phenotype correlations were evaluated. The present results reconfirmed that the variants in CDH23 are an important cause of non-syndromic sensorineural hearing loss. In addition, we showed that the mutational spectrum in the Japanese population, which is probably representative of the East Asian population in general, as well as frequent CDH23 variants that might be due to some founder effects. The present study demonstrated CDH23 variants cause a broad range of phenotypes, from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Genotype (variant combinations) and phenotype (association with retinal pigmentosa, onset age) are shown to be well correlated and are thought to be related to the residual function defined by the CDH23 variants.

Association of Interleukin-6–174G/C Polymorphism With Ischemic Stroke: An Updated Meta-Analysis

Background: Although numerous epidemiological studies have investigated the association between −174G/C(rs1800795) polymorphism in the interleukin-6 (IL-6) gene-stimulatory region and the risk of ischemic stroke (IS), they failed to reach a unified conclusion. The true relationship between −174G/C(rs1800795) polymorphism and IS remains controversial and unclear. Therefore, in this meta-analysis, we aimed to analyze more precisely the association between −174G/C(rs1800795) single-nucleotide polymorphism (SNP) of IL-6 gene and IS in a larger pooled population.Methods: A comprehensive literature search was performed in PubMed, Web of Science, and the Cochrane Central Register of Controlled Trials until June 30, 2021. A fixed or random-effects model was utilized based on heterogeneity between studies. The odds ratios (ORs) and 95% confidence intervals (Cis) were calculated in the models of allele comparison (G vs. C), homozygote comparison (GG vs. CC) and (GC vs. CC), dominant (GG vs. GC + CC), hyper dominant (GG + CC vs. GC), and recessive (GG + GC vs. CC) to determine the strength of associations.Results: This meta-analysis included 13 case-control studies in 35 articles with 5,548 individuals. Overall, no significant associations between IL-6 −174G/C(rs1800795) and IS were identified (G vs. C:OR [95% CI] = 0.99 [0.81, 1.21], P = 0.91; GG + CC vs. GC:0.97 [0.85, 1.11], P = 0.66; GG vs. GC + CC: 1.01 [0.81, 1.25], P = 0.94; GC vs. CC: OR [95% CI] = 1.01 [0.68, 1.5], P = 0.96; GG vs. CC:0.93 [0.57, 1.51], P = 0.76; GG + GC vs. CC:0.97 [0.64, 1.47], P = 0.89). In the subgroup analyses by ethnicity or HWE P-value, there was a statistically significant association between IL-6 −174G/C(rs1800795) polymorphisms and IS in the alleles model; (G vs. C: LogOR [95% CI] = 0.14 [−0.16,.45], P = 0.00), homozygote model (GG vs. CC: LogOR [95% CI] = 0.18 [−0.58,.95], P = 0.00) and (GC vs. CC: LogOR [95% CI] = 0.2 [−0.46,.85], P = 0.00), dominant model (GG vs. GC + CC: OR [95% CI] = 0.02 [−0.72, 0.77], P = 0.00), and recessive model (GG + GC vs. CC: OR [95% CI]= −0.17 [−0.86,.52], P = 0.00) of the European population and in the dominant model (GG vs. GC + CC: OR [95% CI] = −0.13 [−0.51, 0.24]) of the Asian population. No statistical significance was identified in both six models of HWE p ≥ 0.2 group (both P ≥ 0.05).Conclusion: This meta-analysis revealed no correlation between IL-6 −174G/C(rs1800795) polymorphism and IS, whereas the subgroup analysis indicated that the relationship between IL-6 −174G/C(rs1800795) polymorphism and IS susceptibility varied significantly according to ethnicity and geography.

The NMT Scalp EEG Dataset: An Open-Source Annotated Dataset of Healthy and Pathological EEG Recordings for Predictive Modeling

Electroencephalogram (EEG) is widely used for the diagnosis of neurological conditions like epilepsy, neurodegenerative illnesses and sleep related disorders. Proper interpretation of EEG recordings requires the expertise of trained neurologists, a resource which is scarce in the developing world. Neurologists spend a significant portion of their time sifting through EEG recordings looking for abnormalities. Most recordings turn out to be completely normal, owing to the low yield of EEG tests. To minimize such wastage of time and effort, automatic algorithms could be used to provide pre-diagnostic screening to separate normal from abnormal EEG. Data driven machine learning offers a way forward however, design and verification of modern machine learning algorithms require properly curated labeled datasets. To avoid bias, deep learning based methods must be trained on large datasets from diverse sources. This work presents a new open-source dataset, named the NMT Scalp EEG Dataset, consisting of 2,417 recordings from unique participants spanning almost 625 h. Each recording is labeled as normal or abnormal by a team of qualified neurologists. Demographic information such as gender and age of the patient are also included. Our dataset focuses on the South Asian population. Several existing state-of-the-art deep learning architectures developed for pre-diagnostic screening of EEG are implemented and evaluated on the NMT, and referenced against baseline performance on the well-known Temple University Hospital EEG Abnormal Corpus. Generalization of deep learning based architectures across the NMT and the reference datasets is also investigated. The NMT dataset is being released to increase the diversity of EEG datasets and to overcome the scarcity of accurately annotated publicly available datasets for EEG research.

Aggression Amongst Outpatients With Schizophrenia and Related Psychoses in a Tertiary Mental Health Institution

Aims: Aggression is defined as “any behavior intended to cause physical, emotional, or psychological harm to another.” The aims of the current study were to (i) examine underlying factor structure of the Buss-Perry Aggression Questionnaire (BPAQ) and (ii) explore socio-demographic and clinical correlates (symptom severity, substance use and alcohol use) among patients with schizophrenia and related psychoses in a multi-ethnic Asian population.Methods: Data collected from 397 participants who were seeking outpatient treatment for schizophrenia and related psychoses at a tertiary psychiatric hospital were included in the analyses. BPAQ, a 29-item, four-factor instrument that measures physical aggression, verbal aggression, anger and hostility was used to assess aggression. Data on socio-demographic variables, age of onset of illness, drug use, alcohol use and symptom severity were also collected. Confirmatory factor analysis (CFA) was performed to establish the underlying factor structure of the BPAQ. Multiple regression analyses were utilized to examine socio-demographic and clinical correlates of the BPAQ factors.Results: The mean age of the participants was 36.2 years (SD = 10.9, range: 21–65). Factor structure obtained from the CFA indicated that a higher order four-factor solution had an acceptable fit to the observed data (WLSMV χ2 = 1,025.35, df = 320, RMSEA = 0.07, CFI = 0.94, TLI = 0.93, SRMR = 0.05). Females had lower physical aggression and hostility scores as compared to males. Those with lower education had higher physical aggression scores as compared to those with higher education. Participants who received a diagnosis after the age of 30 years had higher physical aggression and anger scores as compared to those who received a diagnosis at or before 20 years of age. Symptom severity was positively associated with higher BPAQ scores.Conclusion: The study findings demonstrated high internal consistency and applicable measurement factor structure of BPAQ in this study sample, making it an appropriate questionnaire for assessing aggressive behavior in this population. We also identified socio-demographic and clinical factors that were associated with aggression in patients with schizophrenia and related psychoses.

INDIRECT CEREBRAL REVASCULARIZATION ON OPTHALMIC ARTERY BY USING A DRUG-ELUTING BALLON FOR SUSPECTED MOYAMOYA DISEASE

Moyamoya disease (MMD) is a rare idiopathic progressive vaso-occlusive disease causing multiple occlusion of cerebral vessels lead to ischemic stroke. Asian population is the most common race to be affected. We present a male patient 33-years old with suspected MMD with right hemiparesis and neurocognitive changes. On digital substraction angiography (DSA) there was appearance of ‘puff of smoke’ on his right hemisphere, stenosis middle cerebral arteries M1 bilaterally, stenosis of right opthalmic artery (OA), stenosis of left anterior cerebral artery (ACA) and aplasia of right ACA. Ballon angioplasty was performed on right OA that supply the contralateral symptomatic stenosis area (left A1) indirectly through anterior ethmoidal artery and anterior falcine artery (OA-ACA collateral). While no guidelines for the management of MMD, cerebral revascularization by using drug-eluting ballon (DEB) in right opthalmica artery is potentially effective treatment that could allow the brain to have good blood supply (gives good collateral to both ACA), reduces burden of the fragile moya-moya vessels to be ruptured followed by improvement of clinical results. Patient’s selection by understanding the stage, its progressivity and collateral formation are crucial before decision is made.