Single-cell RNA-seq data analysis reveals functionally relevant biomarkers of early brain development and their regulatory footprints in human embryonic stem cells (hESCs).

The complicated process of neuronal development is initiated early in life, with the genetic mechanisms governing this process yet to be fully elucidated. Single-cell RNA sequencing (scRNA-seq) is a potent instrument for pinpointing biomarkers that exhibit differential expression across various cell types and developmental stages. By employing scRNA-seq on human embryonic stem cells, we aim to identify differentially expressed genes (DEGs) crucial for early-stage neuronal development. Our focus extends beyond simply identifying DEGs. We strive to investigate the functional roles of these genes through enrichment analysis and construct gene regulatory networks to understand their interactions. Ultimately, this comprehensive approach aspires to illuminate the molecular mechanisms and transcriptional dynamics governing early human brain development. By uncovering potential links between these DEGs and intelligence, mental disorders, and neurodevelopmental disorders, we hope to shed light on human neurological health and disease. In this study, we have used scRNA-seq to identify DEGs involved in early-stage neuronal development in hESCs. The scRNA-seq data, collected on days 26 (D26) and 54 (D54), of the in vitro differentiation of hESCs to neurons were analyzed. Our analysis identified 539 DEGs between D26 and D54. Functional enrichment of those DEG biomarkers indicated that the up-regulated DEGs participated in neurogenesis, while the down-regulated DEGs were linked to synapse regulation. The Reactome pathway analysis revealed that down-regulated DEGs were involved in the interactions between proteins located in synapse pathways. We also discovered interactions between DEGs and miRNA, transcriptional factors (TFs) and DEGs, and between TF and miRNA. Our study identified 20 significant transcription factors, shedding light on early brain development genetics. The identified DEGs and gene regulatory networks are valuable resources for future research into human brain development and neurodevelopmental disorders.

Discovering novel cancer bio-markers in acquired lapatinib resistance using Bayesian methods.

Signalling transduction pathways (STPs) are commonly hijacked by many cancers for their growth and malignancy, but demystifying their underlying mechanisms is difficult. Here, we developed methodologies with a fully Bayesian approach in discovering novel driver bio-markers in aberrant STPs given high-throughput gene expression (GE) data. This project, namely 'PathTurbEr' (Pathway Perturbation Driver) uses the GE dataset derived from the lapatinib (an EGFR/HER dual inhibitor) sensitive and resistant samples from breast cancer cell lines (SKBR3). Differential expression analysis revealed 512 differentially expressed genes (DEGs) and their pathway enrichment revealed 13 highly perturbed singalling pathways in lapatinib resistance, including PI3K-AKT, Chemokine, Hippo and TGF-$\beta $ singalling pathways. Next, the aberration in TGF-$\beta $ STP was modelled as a causal Bayesian network (BN) using three MCMC sampling methods, i.e. Neighbourhood sampler (NS) and Hit-and-Run (HAR) sampler that potentially yield robust inference with lower chances of getting stuck at local optima and faster convergence compared to other state-of-art methods. Next, we examined the structural features of the optimal BN as a statistical process that generates the global structure using $p_1$-model, a special class of Exponential Random Graph Models (ERGMs), and MCMC methods for their hyper-parameter sampling. This step enabled key drivers identification that drive the aberration within the perturbed BN structure of STP, and yielded 34, 34 and 23 perturbation driver genes out of 80 constituent genes of three perturbed STP models of TGF-$\beta $ signalling inferred by NS, HAR and MH sampling methods, respectively. Functional-relevance and disease-relevance analyses suggested their significant associations with breast cancer progression/resistance.

A comprehensive integrated drug similarity resource for in-silico drug repositioning and beyond.

Drug similarity studies are driven by the hypothesis that similar drugs should display similar therapeutic actions and thus can potentially treat a similar constellation of diseases. Drug-drug similarity has been derived by variety of direct and indirect sources of evidence and frequently shown high predictive power in discovering validated repositioning candidates as well as other in-silico drug development applications. Yet, existing resources either have limited coverage or rely on an individual source of evidence, overlooking the wealth and diversity of drug-related data sources. Hence, there has been an unmet need for a comprehensive resource integrating diverse drug-related information to derive multi-evidenced drug-drug similarities. We addressed this resource gap by compiling heterogenous information for an exhaustive set of small-molecule drugs (total of 10 367 in the current version) and systematically integrated multiple sources of evidence to derive a multi-modal drug-drug similarity network. The resulting database, 'DrugSimDB' currently includes 238 635 drug pairs with significant aggregated similarity, complemented with an interactive user-friendly web interface (http://vafaeelab.com/drugSimDB.html), which not only enables database ease of access, search, filtration and export, but also provides a variety of complementary information on queried drugs and interactions. The integration approach can flexibly incorporate further drug information into the similarity network, providing an easily extendable platform. The database compilation and construction source-code has been well-documented and semi-automated for any-time upgrade to account for new drugs and up-to-date drug information.

Bioinformatics and system biology approaches to identify the diseasome and comorbidities complexities of SARS-CoV-2 infection with the digestive tract disorders.

Coronavirus Disease 2019 (COVID-19), although most commonly demonstrates respiratory symptoms, but there is a growing set of evidence reporting its correlation with the digestive tract and faeces. Interestingly, recent studies have shown the association of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection with gastrointestinal symptoms in infected patients but any sign of respiratory issues. Moreover, some studies have also shown that the presence of live SARS-CoV-2 virus in the faeces of patients with COVID-19. Therefore, the pathophysiology of digestive symptoms associated with COVID-19 has raised a critical need for comprehensive investigative efforts. To address this issue we have developed a bioinformatics pipeline involving a system biological framework to identify the effects of SARS-CoV-2 messenger RNA expression on deciphering its association with digestive symptoms in COVID-19 positive patients. Using two RNA-seq datasets derived from COVID-19 positive patients with celiac (CEL), Crohn's (CRO) and ulcerative colitis (ULC) as digestive disorders, we have found a significant overlap between the sets of differentially expressed genes from SARS-CoV-2 exposed tissue and digestive tract disordered tissues, reporting 7, 22 and 13 such overlapping genes, respectively. Moreover, gene set enrichment analysis, comprehensive analyses of protein-protein interaction network, gene regulatory network, protein-chemical agent interaction network revealed some critical association between SARS-CoV-2 infection and the presence of digestive disorders. The infectome, diseasome and comorbidity analyses also discover the influences of the identified signature genes in other risk factors of SARS-CoV-2 infection to human health. We hope the findings from this pathogenetic analysis may reveal important insights in deciphering the complex interplay between COVID-19 and digestive disorders and underpins its significance in therapeutic development strategy to combat against COVID-19 pandemic.

BARD: A Structured Technique for Group Elicitation of Bayesian Networks to Support Analytic Reasoning.

In many complex, real-world situations, problem solving and decision making require effective reasoning about causation and uncertainty. However, human reasoning in these cases is prone to confusion and error. Bayesian networks (BNs) are an artificial intelligence technology that models uncertain situations, supporting better probabilistic and causal reasoning and decision making. However, to date, BN methodologies and software require (but do not include) substantial upfront training, do not provide much guidance on either the model building process or on using the model for reasoning and reporting, and provide no support for building BNs collaboratively. Here, we contribute a detailed description and motivation for our new methodology and application, Bayesian ARgumentation via Delphi (BARD). BARD utilizes BNs and addresses these shortcomings by integrating (1) short, high-quality e-courses, tips, and help on demand; (2) a stepwise, iterative, and incremental BN construction process; (3) report templates and an automated explanation tool; and (4) a multiuser web-based software platform and Delphi-style social processes. The result is an end-to-end online platform, with associated online training, for groups without prior BN expertise to understand and analyze a problem, build a model of its underlying probabilistic causal structure, validate and reason with the causal model, and (optionally) use it to produce a written analytic report. Initial experiments demonstrate that, for suitable problems, BARD aids in reasoning and reporting. Comparing their effect sizes also suggests BARD's BN-building and collaboration combine beneficially and cumulatively.

Tracking Ultrafast Photocurrents in the Weyl Semimetal TaAs Using THz Emission Spectroscopy.

We investigate polarization-dependent ultrafast photocurrents in the Weyl semimetal TaAs using terahertz (THz) emission spectroscopy. Our results reveal that highly directional, transient photocurrents are generated along the noncentrosymmetric c axis regardless of incident light polarization, while helicity-dependent photocurrents are excited within the ab plane. This is consistent with earlier static photocurrent experiments, and demonstrates on the basis of both the physical constraints imposed by symmetry and the temporal dynamics intrinsic to current generation and decay that optically induced photocurrents in TaAs are inherent to the underlying crystal symmetry of the transition metal monopnictide family of Weyl semimetals.

Perinatal Complications in Diabetes Mellitus with Pregnancy: Comparison between Gestational Diabetes Mellitus (GDM) and Diabetes Mellitus Prior to Pregnancy.

Diabetes is alarmingly high among Bangladeshi people. But there have been very few studies assessing the effect of diabetes on perinatal outcomes, particularly comparing diabetes prior to pregnancy and gestational diabetes (GDM). This cross sectional observational study was conducted in the Department of Obstetrics & Gynaecology, BIRDEM Hospital, Dhaka, Bangladesh from September 2010 to February 2011. Pregnant women admitted in BIRDEM Hospital for delivery after 28 weeks of gestation were selected to assess perinatal complications of GDM and diabetes prior to pregnancy and to compare them after taking permission from institutional review board. Perinatal complications of 50 women with gestational diabetes, 50 pregnant women with diabetes prior to pregnancy, and 50 non diabetic pregnant women as control were studied after taking written consent and the outcomes between GDM, and mother with diabetes prior to pregnancy were compared. Perinatal outcomes including congenital anomalies, birth asphyxia, macrosomia, respiratory distress syndrome (RDS), hypoglycemia, hyperbilirubinaemia, and perinatal mortality were compared. Neonatal complications were significantly higher in both pregnancy with prior diabetes (74%) and gestational diabetes (58%) when compared with non diabetic control (24%). Leading neonatal complications were macrosomia, birth asphyxia, hyperbilirubinaemia, and hypoglycemia. Macrosomia was significantly higher in GDM than non diabetic group (10% vs. 0%, p=0.003). Frequency of birth asphyxia, hyperbilirubinaemia, and hypoglycemia were significantly higher in the infant of mother with prior diabetes (22%, 54%, & 22% respectively) and GDM (20%, 38%, 18% respectively) than that of non diabetic mother (6%, 20%, 0% respectively). Compared to GDM, mother with prior diabetes had more frequent hyperbilirubinaemia (38% vs. 54%, p=0.004) and hypoglycemia (18% vs. 22%, p=0.04). Women with diabetes had worse pregnancy outcomes compared to non-diabetic mothers. Pregnancy prior to diabetes is associated with more frequent complications than gestational diabetes.

Pattern of Pulmonary Involvement and Outcome of Aspiration Pneumonia in Patients with Altered Consciousness Admitted in Dhaka Medical College Hospital.

Aspiration is well recognized as a cause of pulmonary disease and is not uncommon in patients with altered consciousness.The mortality rate of aspiration pneumonia is approximately 1% in outpatient setting and upto 25% in those requiring hospitalization. This study was done to see the pattern of pulmonary involvement and outcome of aspiration pneumonia in patients with altered consciousness admitted in medicine department of a tertiary care hospital in our country. This was a prospective observational study conducted among the 52 adult patients of aspiration pneumonia with altered consciousness admitted in the medicine department of Dhaka Medical College Hospital (DMCH), during June 2010 to December 2010. Aspiration pneumonia was confirmed by clinical examination and laboratory investigations. Hematologic measurements (TC of WBC, Hb%, ESR, platelet count), chest X-ray, blood gas analysis, blood urea, creatinine and random blood sugar, sputum for Gram staining, sputum for culture sensitivity and blood culture were done in all patients.Assessment of altered conscious patient was done by application of the Glasgow Coma Scale. Case record forms with appropriate questionnaire were filled for all patients. The mean±SD age was 57.42±13.63 years with ranged from 25 to 90 years. Out of 52 patients, 37(71.15%) patients were male and 15(28.85%) patients were female. Following aspiration 76.92% patients developed pneumonitis, 13.46% patients developed lung abscess and only 9.62% patients developed ARDS. Most (33) of the patients had opacity in right lower zone and 13 patients had opacity in the left lower zone, 6 patients had opacity in right mid zone. Only 10 patients had opacity in both lower zones. In this study overall mortality rate was 23%. If only one lobe was involved radiologically, mortality was 8.33%. If two or more lobes on one or both sides were involved, mortality was in the range of 25-91%.

Tuberculosis is a Mimicker of JIA: A Rare Case Report.

Cystic tuberculosis of the bone is a rare form of tuberculosis (TB). The condition presents like Juvenile idiopathic arthritis (JIA) of children. In children, the lesions symmetrically involve the peripheral skeleton, which are less sclerotic than adults. A case report is presented here where the patient presented with i) the extensive involvement of bones with cystic lesion, ii) Hand & feet involvement with multiple bony exostosis iii) Synovial swelling of multiple joints and 4) fever for 6 months. Swelling of the joints was disproportionately greater than pain. For the last 6 month patient developed low grade fever with evening rise of temperature & dry cough. There was associated anorexia & significant weight loss. Patient was moderately anaemic & there was cervical lymphadenopathy on both sides. The chest examination revealed features suggestive of consolidation in the right lung. Regarding MSK findings there was swelling of both knee & right wrist with G-II tenderness, sublaxation of both anterior and posterior cruciate ligament with mild effusion. Bony exostosis at the base of left index finger & at the base of right middle finger was found. Investigation shows low Hb, very high ESR, positive tuberculin test. X-ray Chest suggestive of consolidation, FNA of right cervical lymph node consistent with tuberculosis. X-ray Pelvis has shown expansile mixed sclerotic radiolucent areas with interval septation involving upper part of both femoral shafts. MRI findings of right knee joint were suggestive of tuberculous osteomyelitis. At this stage the patient was put on Anti-TB chemotherapy. After 2 month and 4 month of follow up with Anti-TB drug both MSK & lung condition was improved significantly. Ultimately the patient was diagnosed as cystic tuberculosis of bone & continued Anti-TB drugs.

Efficacy of Vitamin C in Lowering Serum Uric Acid.

The objective of the study was to determine the efficacy of vitamin C in reducing serum uric acid (UA). This study was a double-blind placebo-controlled randomized trial conducted in the Department of Rheumatology, Bangabandhu Sheikh Mujib Medical University (BSMMU) Dhaka, Bangladesh from July 2007 and August 2008. Study participants were included from out patient department (OPD) of Rheumatology of BSMMU suffering from various Rheumatological problems other than gouty arthritis. All of the participants were non-smokers, non-alcoholics, and randomized to take either placebo or vitamin C (500 mg/day) for 12 weeks. A total of 98 subjects were enrolled in the study; 71 completed the trial, with 34 in the placebo group and 37 receiving vitamin C. Serum uric acid levels were not significantly reduced in the experimental group and they increased in the placebo group. In the vitamin C group, the mean change was -0.32mg/dl [95% confidence interval -0.73, 0.77], whereas in the placebo group, the mean change was +0.12mg/dl [95% confidence interval was -0.22, 0.47]. Subgroups were defined by sex, body mass index, and quartiles of baseline serum uric acid levels. In a subgroup analysis, vitamin C lowered serum uric acid significantly in those who had comparatively higher baseline uric acid levels. Although vitamin C did not lower serum uric acid significantly, participants with higher baseline serum uric acid levels experienced a significant uric acid lowering effect, but as the sample size was very small, it is difficult to draw any definitive conclusion.

Use of Anticoagulant Warfarin in Patients Presenting With Atrial Fibrillation in a Tertiary Level Hospital.

Atrial fibrillation (AF) is the most common sustained arrhythmia in the World, occurring in approximately 0.4% of the general population. The purpose of the present study was to see the trend of use of warfarin in hospital admitted patients with atrial fibrillation. It was conducted in the department of cardiology, University Cardiac Centre, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from January 2008 to January 2009. A total of 150 patients with atrial fibrillation were enrolled in this study. Out of them, male were 60(40%) and female 90(60%); age range 22-79 years. Most common presenting symptoms were palpitation (80%) & dyspnoea (70%). Chronic rheumatic heart disease (Mitral stenosis) (33%) was found in most cases followed by IHD (22%), hypertension (21%). According to CHADS2 score, most of the patients belonged to moderate risk group (47%) and 32% in low risk group. Anticoagulation with warfarin was used in 40% cases of valvular AF & 25% patients with non valvular AF. Among non valvular AF, it was prescribed for 38% in high risk group, 34% in moderate risk & 3% in low risk group. The study states that warfarin is underused in both valvular & non valvular AF.

Autoimmune polyglandular syndrome type II - a case report.

Autoimmune polyglandular syndrome also known as autoimmune polyendocrine syndrome (APS) type II is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type I diabetes mellitus. Here a 14 year old girl is reported with Addison's disease, autoimmune hypothyroidism and primary hypogonadism. Autoimmune polyendocrine syndrome (APS) type II occurs most often in middle aged female and is quite rare in children but one should think to autoimmune polyglandular syndrome type II in patient at any age especially in patients with Addison's disease.

Scleredema Diabeticorum - A Case Report.

Buschke Scleredema is a rare connective tissue disorder of unknown aetiology and characterized by thickening of the dermis. It resembles systemic sclerosis, eosinophilic fasciitis and cutaneous amyloidosis. Scleredema may be associated with a history of an antecedent febrile illness, diabetes mellitus, or blood dyscrasia. It may be classified into three clinical groups, each has a different history, course, and prognosis. Histology of skin is characterized by thickened dermis and increased spaces between large collagen bundles due to increased deposition of mucopolysaccharide in the dermis. Differential diagnosis can be made considering the typical clinical features and the histological peculiarity. No therapy is effective. In this communication we have presented a 54 year old man with scleredema successfully treated by PUVA and methotrexate. We reviewed associated diseases, clinical and histopathological characteristics, evolution and response to treatment.

Gastrointestinal manifestations as initial presenting features in a 40 years old woman with systemic lupus erythematosus.

Gastrointestinal (GI) symptoms are common in patients with systemic lupus erythematosus (SLE). These symptoms can be due to primary GI disorders like peptic ulcer disease, pancreatitis or intestinal obstruction. But they can be due to SLE itself or complications of treatment of SLE. In this case report, we describe a 40 years old woman who presented initially with GI complaints. Later she was diagnosed as a case of SLE with chronic intestinal pseudo-obstruction (CIPO). The problems related to diagnosis and management is also discussed.

A 42-year-old man with huge abdominal mass.

Patients presenting with abdominal lump is a common clinical finding in our medical practice. Most of the cases can be diagnosed without much difficulty. But sometimes it can be difficult to diagnose the cause of the lump. Here we are presenting a 42-year-old man who visited his physician in Bangabandhu Sheikh Mujib Medical University with huge abdominal lump. Initially it was diagnosed as hepatocellular carcinoma (HCC). Later it turned out to be case of adrenocortical carcinoma (ACC). Problems related to diagnosis and management is also discussed.

Delayed primary suture prevents wound infection in patients with obstructive jaundice and septic abdomen.

This study was undertaken to assess the efficacy of delayed primary closure in prevention of postoperative wound infection in patients with obstructive jaundice and septic abdomen. Here analyzed 93 patients retrospectively who underwent surgery in hepato-biliary-pancreatic unit of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from January 2011 to June 2011. Primary closure of the abdominal wound was applied in all patients. There was no mortality, but 21 patients had postoperative morbidity (wound infection in 17, intra-abdominal abscess in 1, melaena in 1, biliary leakage in 1, burst abdomen in 1). Seventy-two patients had uneventful postoperative recovery were included in Group 1. Patients who developed postoperative wound infection (n=17) were included in Group 2. Rest 4 patients who developed other complications were excluded from the study. Pre-, per and postoperative parameters were compared between two groups for identifying the risk factors for SSI. Delayed primary closure of the wound was applied prospectively in 21 patients (Group 3) on the basis of retrospective results and the outcome was assessed. Retrospective analysis revealed that the patient who developed wound infections (Group 2) after primary closure; significantly greater number of patients had obstructive jaundice or intra-abdominal septic condition preoperatively. Prospective results revealed that there was no wound infection in 21 patients with in obstructive jaundice or intra-abdominal sepsis in which delayed primary closure was applied. Hospital stay was significantly reduced in Group 3 in compare to Group 2. In subsequent follow up, it has been found that 2 patients developed incisional hernia in Group 2 patients but none in Group 3 patients. Delayed primary closure of the wound is a good option in patient with obstructive jaundice and intra-abdominal septic condition for preventing postoperative wound infection.

Performance evaluation of nanofluid-based photovoltaic thermal (PVT) system with regression analysis.

The recent global energy crisis has shocked Bangladesh's power sectors, and experts recommend using alternative energy sources to conserve natural gas, fossil fuels, and electricity. Numerous investigations on the photovoltaic thermal (PVT) system have been carried out to get the source efficiently. As a result, a parametric evaluation of the PVT system's efficiency in Dhaka, Bangladesh, is investigated numerically using CNT nanofluid as a coolant. The numerical simulation is performed using the Galerkin weighted residual based finite element method. For accurate computations, the meteorological data for Dhaka, Bangladesh, is taken from open sources of Renewables.ninja. The effect of regulating parameters Reynolds number (200 ≤ Re ≤ 1000), solar irradiation (200 W/m2 ≤ G ≤ 1000 W/m2), and the monthly influence on performance such as cell temperature, fluid domain exit temperature, efficiencies, and energy are discussed. In addition, regression analyses of electrical efficiency and thermal efficiency are discussed for the input variables Reynolds number and solar irradiation. After postprocessing, empirical results are compiled and presented as 3D surface graphs, tables, and line diagrams. As the Reynolds number increased, the cell temperature and discharge temperature decreased, resulting in increased efficiency. However, the opposite situation is found for solar irradiation. Month-to-month variation also has a considerable impact on photovoltaic thermal performance. This research will help to improve the efficacy of PVTs in Dhaka, Bangladesh, by identifying useful alternative renewable energy sources.

Artificial neural network (ANN) analysis on thermophysical properties of magnetohydrodynamics flow with radiation in an arc-shaped enclosure with a rotating cylinder.

The objective of this research is to examine the thermophysical features of magnetic parameter (Ha) and time step (τ) in a lid-driven cavity using a water-based Al2O3 nanofluid and the efficacy of ANN models in accurately predicting the average heat transfer rate. The Galerkin weighted residual approach is used to solve a set of dimensionless nonlinear governing equations. The Levenberg-Marquardt back propagation technique is used for training ANN using sparse simulated data. The findings of the investigation about the flow and thermal fields are shown. Furthermore, a comparative study and prediction have been conducted on the impact of manipulating factors on the average Nusselt number derived from the numerical heat transfer analysis. The findings of the research indicate that, in the absence of magnetohydrodynamics, a rise in the Hartmann number resulted in a drop in both the fluid velocity profile and magnitude. Conversely, it was observed that the temperature and Nusselt number exhibited an increase under these conditions. The mean temperature of the fluid rises as the Hartmann number drops, reaching a peak value of 0.114 when Ha = 0. The scenario where Ha = 0, representing the lack of magnetohydrodynamics, shows the highest average Nusselt number, whereas the instance with Ha = 45 presents the lowest Nusselt number. The ANN model has a high level of accuracy, as seen by an MSE value of 0.00069 and a MAE value of 0.0175, resulting in a 99% accuracy rate.

Allelic mRNA expression imbalance in C-type lectins reveals a frequent regulatory SNP in the human surfactant protein A (SP-A) gene.

Genetic variation in C-type lectins influences infectious disease susceptibility but remains poorly understood. We used allelic mRNA expression imbalance (AEI) technology for surfactant protein (SP)-A1, SP-A2, SP-D, dendritic cell-specific ICAM-3-grabbing non-integrin (DC-SIGN), macrophage mannose receptor (MRC1) and Dectin-1, expressed in human macrophages and/or lung tissues. Frequent AEI, an indicator of regulatory polymorphisms, was observed in SP-A2, SP-D and DC-SIGN. AEI was measured for SP-A2 in 38 lung tissues using four marker single-nucleotide polymorphisms (SNPs) and was confirmed by next-generation sequencing of one lung RNA sample. Genomic DNA at the SP-A2 DNA locus was sequenced by Ion Torrent technology in 16 samples. Correlation analysis of genotypes with AEI identified a haplotype block, and, specifically, the intronic SNP rs1650232 (30% minor allele frequency); the only variant consistently associated with an approximately twofold change in mRNA allelic expression. Previously shown to alter a NAGNAG splice acceptor site with likely effects on SP-A2 expression, rs1650232 generates an alternative splice variant with three additional bases at the start of exon 3. Validated as a regulatory variant, rs1650232 is in partial linkage disequilibrium with known SP-A2 marker SNPs previously associated with risk for respiratory diseases including tuberculosis. Applying functional DNA variants in clinical association studies, rather than marker SNPs, will advance our understanding of genetic susceptibility to infectious diseases.

Prevalence and risk factors of chronic obstructive pulmonary disease (COPD) in Dhaka city population.

This prospective, cross-sectional population based survey was carried out in the Respiratory wing, Department of Medicine, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh to see the prevalence and risk factors of chronic obstructive pulmonary disease (COPD) among Dhaka City Population in Bangladesh. The total sample size was 900 at the age of 35 years or above. Spirometry was performed according to ATS criteria. Data related to smoking history, respiratory symptoms, co-morbidities, physical examination findings, spirometry values and other investigation reports were noted in the questionnaire. The mean age was 45.26±10.08 (Mean±SD); of them, male 76.9% and female 23.1%. Among them, smoker was 481 with a smoking duration of 10 pack year 27.8% and non smoker were 419. Spirometric screening yielded diagnosis of COPD in 11.4% (103/900). Using operational severity criteria adopted from Global Initiative for Obstructive Lung Disease (GOLD) mild, moderate, severe and very severe COPD were found in 42.7%, 27.2%, 20.4% and 9.7% respectively. The hall mark symptom of COPD exertional dyspnea was seen in 10.4%, non-specific symptoms like cough and sputum were found in 40% and 19% respectively. Physical sign like vesicular breath sound with prolonged expiration and ronchi were found in 6.1% and 4.1% respectively. In this study, age (Mean±SD in years) (57.34±11.74), Sex (Male: Female = 4:1), low BMI (Mean±SD) (21.56±3.83), Smoker 56(20.2%) and low Socio-economic condition 54(13.6%) found to be risk factor of COPD. Regression analysis revealed that age (p<0.001), sex (p<0.001), smoking duration (p<0.001) and low socioeconomic condition (p<0.05) as independent risk factors for COPD.