Periocular anthropometric study among adult Bangladeshi Buddhist Chakma females

The dimensions of the human body are affected by geographical, racial, ethnic, gender and age factors. So, a normative data of periocular measurements based on above factors are indispensa-ble to identify any ocular pathology and to precise determination of the degree of deviations from the normal. The study was descriptive, observational and cross-sectional in nature with some analytical components. The study group consisted of a convenient sample of 100 adult Bangladeshi Buddhist Chakma females aged between 25 and 45 years. Eleven variables were analyzed using photographic procedures and nine indices were calculated from photographically measured variables. Regression analyses showed that interpupillary distance has significant positive correlation with each of the orbital measurements except for right and left eye fissure height. Regression equations were calculated from those orbital variables showing significant positive correlation with interpupillary distance

Relationship of Soluble RAGE with Insulin Resistance and Beta Cell Function during Development of Type 2 Diabetes Mellitus

This study examined whether circulating levels of soluble receptor for advanced glycation end products (sRAGE) alter in prediabetes and correlate with insulin resistance (IR) and beta cell function in prediabetes and newly diagnosed type 2 diabetes mellitus (T2DM). Subjects without previous history of diabetes were recruited and grouped as control, prediabetes, and newly diagnosed T2DM. The control subjects (n=40) and people with prediabetes (n=52) and diabetes (n=66) were similar in terms of age, sex, BMI, systolic and diastolic BP, and fasting insulin level. HOMA-IR was found significantly higher in people with diabetes than control subjects (p<0.001) and people with prediabetes (p=0.005); and HOMA-%B was found significantly deteriorated in people with diabetes (p<0.001) compared to control subjects and people with prediabetes. However, serum sRAGE levels did not show any significant alteration in people with prediabetes compared to control subjects. Moreover, univariate and multivariate analyses did not identify any significant correlation and statistical association of sRAGE with HOMA-IR and HOMA-%B in people with prediabetes and newly diagnosed T2DM. Our data suggest that serum sRAGE levels do not alter in people with prediabetes compared to control subjects and do not correlate or associate with IR and beta cell function during development of T2DM

Beta-Myosin Heavy Chain (β-MHC) and Myosin Binding Protein C (MyBP-C) genes mutation in Bangladeshi hypertrophic Cardiomyopathy Patients: a genotype-phenotype correlation

Hypertrophic Cardiomyopathy (HCM) shows considerable clinical heterogeneity, both between and within families. So far 18 genes have been identified and about 1400 different mutations have been found. Among these mutations human beta-Myosin Heavy Chain (β-MHC) and Myosin Binding Protein C (MyBP-C) mutations account for about 50% of cases. In this study, Genotype and phenotype correlations in HCM in β-MHC and MyBP-C genes mutation were screened in 60 Bangladeshi HCM patients. Patients referred from Department of Cardiology, of BSMMU a tertiary care hospital, Dhaka, Bangladesh were included in this study. Clinical evaluation included a full clinical history, physical examination, 12-lead Electrocardiography, ambulatory holter monitor, and two dimensional M-mode echocardiography and Doppler echocardiography was done by expert cardiologist. Determination of genotype of β-MHC&amp; MyBP-C genes were done by Miseq next gene sequencer (NGS). DNA was isolated from blood. Four primers for each gene were designed to cover the whole gene sequences and amplicons were prepared by long range PCR. Library preparation for NGS was done by Nextera XT library preparation kit. The barcoded libraries were sequenced using the MiSeq sequencer with v3 kits. All sequencing data were aligned automatically to the reference genome (GRCh37/hg19) using the MiSeq Reporter v2.5 which converted sequencing raw data to Binary Alignment/Map (BAM) and Variant Call Format (VCF) v4.1 files. The VCF files were comprehensively analyzed and interpreted by VariantStudioTM v2.3 software. Evaluation of phenotype was completed after determination of genotype. Genetic screening revealed Glu965Lys/E965K, Arg442Cys/R442C (CGC&gt;TGC), Arg663His/R663H (CGC&gt;CAC) genes mutation in head domain of MYH7 protein in six patients, Ar435Trp/R35W (CGG&gt;TGG) &amp; Asp770Asn/D770N (GAC/AAC). Single gene mutations were identified in MYBPC3 protein in 15 patients and 3 patients found to be compound mutation. Two were found in intronic regions and are thought to be responsible for alternate splicing. Proband with compound mutations had a significantly greater left ventricular wall thickness and non-sustained ventricular tachycardia than the single mutation patients. Multiple gene mutation in HCM raises many issues of which haplotype of family member will be needed for microsatellites repeat to find out Bangladeshi population specific founder mutation

CRISPR-Cas9: a promising genetic engineering approach in cancer research

Bacteria and archaea possess adaptive immunity against foreign genetic materials through clustered regularly interspaced short palindromic repeat (CRISPR) systems. The discovery of this intriguing bacterial system heralded a revolutionary change in the field of medical science. The CRISPR and CRISPR-associated protein 9 (Cas9) based molecular mechanism has been applied to genome editing. This CRISPR-Cas9 technique is now able to mediate precise genetic corrections or disruptions in in vitro and in vivo environments. The accuracy and versatility of CRISPR-Cas have been capitalized upon in biological and medical research and bring new hope to cancer research. Cancer involves complex alterations and multiple mutations, translocations and chromosomal losses and gains. The ability to identify and correct such mutations is an important goal in cancer treatment. In the context of this complex cancer genomic landscape, there is a need for a simple and flexible genetic tool that can easily identify functional cancer driver genes within a comparatively short time. The CRISPR-Cas system shows promising potential for modeling, repairing and correcting genetic events in different types of cancer. This article reviews the concept of CRISPR-Cas, its application and related advantages in oncology

Mutation in the beta-myosin heavy chain (β-MHC) gene of adult Bangladeshi patients with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiomyopathy characterized by sudden cardiac death. HCM is caused by the mutation in several genes that encode sarcomere proteins. Beta-Myosin Heavy Chain (β-MHC) gene is the one of the most mutated genes responsible for HCM. Studies on mutation spectrum of β-MHC gene are lacking in the Asian population including Bangladeshi patients. This study was intended to mutational analysis of β-MHC gene in Bangladeshi HCM patients. A cross-sectional study was conducted for mutation analysis of the β-MHC gene on 70 Bengali Bangladeshi HCM probands using nextgeneration sequencing at the Genetic Research Lab of Bangabandhu Sheikh Mujib Medical University. Structural and functional impact of the mutations were further analyzed by in-silico process. Thirty-nine nucleotide variants were found in both exonic (36%, n= 14) and intronic regions (64%, n=25) of β-MHC gene. We found 14 missense mutations, including the p.Glu965Lys, p.Arg941Pro, p.Lys940Met, p.Glu935Lys, and p.Met922Lys that are associated with inherited HCM. Most variants were heterozygous and one homozygous (p.Val919Leu) was found. The variant with most evidence of causing the disease was p.Glu935Lys. Among the missense variants, nine were not noted in ClinVar, dbSNP, GenomeAD databases. These unreported variants located between myosin head and tail domains might be novel mutations for Bangladeshi population. We found nine novel variants in the β-MHC gene. Findings of this research will help to developing a genetic database of HCM for early diagnosis and proper management of HCM patients in Bangladesh. Bangabandhu Sheikh Mujib Medical University Journal 2022;15(4):2-