Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida. We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified using data from observations by neurosurgeons and available imaging. Controls were drawn from children who presented to NINS&H or Dhaka Shishu Hospital (DSH) during the same study period. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS). We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother's arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median, and no association was seen among mothers with toenail arsenic concentrations higher than median (adjusted OR: 1.09, 95% CI: 0.52-2.29, p = 0.82). Mother's arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.

Background: Dengue fever is an arboviral illness spread by mosquitoes and is now a major public health issue on a global scale. Unfortunately, only few studies have documented unusual clinical characteristics of dengue among children. Objective: The objective of this study was to describe the gastro intestinal manifestations of dengue infected children during 2019 dengue outbreak in Dhaka city. Methodology: This cross-sectional study was conducted at Department of Virology at National Institute of Laboratory Medicine and Referral Center, Dhaka, Bangladesh among confirmed cases of dengue fever (Children aged less than 12 years) admitted in the pediatric ward of Dhaka Medical College Hospital, Kurmitola General Hospital, Sir Sallimullah Medical College Hospital, Dr M R Khan Sishu Hospital and BSMMU in Dhaka from June 2019 to November 2019 for period of six months. Data was collected using a structured questionnaire via face-to-face interview from guardian of the children. The investigation profile was collected from their hospital records. Results: Out of confirmed 200 pediatric dengue patients, children with dengue had an average age of 9.8±2.7 years with a slight female predominance. The majority (36.5%) of the children belonged to the age group of 5 to 9 years. Among 200 patients, 42 patients diagnosed as severe Dengue according to WHO classification. Gastrointestinal symptoms were the most common associated feature, including mostly Nausea/vomiting (81.0%), abdominal pain (61.0%), ascites (29.0%), hepatomegaly (19.0%), diarrhoea (13.0%) and others. Elevation of transaminases was found in 40.0% of the children. About 30% of the patients had platelet count more than or equal to 50000 and hematocrit more than 40 was observed in 12% patients. Atypical manifestations such as acalculous cholecystitis, acute fulminant hepatitis, acute pancreatitis, parotitis, AKI and paralytic ileus were noted in small number of patients. Conclusion: In conclusion, fever with vomiting and abdominal pain are common presentations of dengue fever. Bangladesh Journal of Medical Microbiology, July 2023;17(2):66-70

Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require genotyping across different populations. To this end, we undertook the first detailed genotype and phenotype characterization of DMD in the Bangladeshi population. We investigated the rare mutational and phenotypic spectrum of the DMD gene in 36 DMD-suspected Bangladeshi participants using an economically affordable diagnostic strategy involving initial screening for exonic deletions in the DMD gene via multiplex PCR, followed by testing PCR-negative patients for mutations using whole exome sequencing. The deletion mapping identified two critical DMD gene hotspot regions (near proximal and distal ends, spanning exons 8–17 and exons 45–53, respectively) that comprised 95% (21/22) of the deletions for this population cohort. From our exome analysis, we detected two novel pathogenic hemizygous mutations in exons 21 and 42 of the DMD gene, and novel pathogenic recessive and loss of function variants in four additional genes: SGCD, DYSF, COL6A3, and DOK7. Our phenotypic analysis showed that DMD suspected participants presented diverse phenotypes according to the location of the mutation and which gene was impacted. Our study provides ethnicity specific new insights into both clinical and genetic aspects of DMD.

Coarctation of the aorta (CoA), usually occurring in the thoracic and rarely in the abdominal aorta, remains an under diagnosed disease entity in the majority of neonates & infants with a misdiagnosis rate being more than62%. It is an earnest need to diagnose CoA in them at the earliest possible time to provide appropriate management. We retrospectively analyzed data of 6 infants with CoA at Ibrahim Cardiac Hospital & Research Institute to provide clues for the diagnosis of CoA, describe their echocardiographic and computed tomography aortopulmonary angiogram to match them with the diagnosis of CoA and analyze their prognosis. Ibrahim Card Med J 2022; 12 (2): 21-26

Dyskeratosis Congenita (DC) is a rare inherited bone marrow failure disorder characterized by lacy reticulated skin pigmentation, nail dystrophy and mucosal leukoplakia. In DC bone marrow failure is the main cause of premature death with an additional predisposition to malignancy. DC results from progressive shortening of telomeres resulting in DNA replication. X-linked recessive is the main mode of inheritance. Most of the patients respond to Androgen therapy. This is a case report of a 5-year-old boy presented with features of bone marrow failure and had abnormality of skin, oral mucosa and nail. His complete blood count with peripheral blood film showed pancytopenia and no blast cell. Hypocellular marrow was present in his Bone marrow examination. Chromosomal analysis- fluorescence in situ hybridization (FISH) revealed very short telomere of chromosome. Microarray genotyping showed DKC1 gene abnormality. BANGLADESH J CHILD HEALTH 2022; VOL 46 (1) : 39-41

Background and Aim: Acute lymphoblastic leukemia (ALL) is the commonest malignancy in childhood. Childhood ALL Survivors have a lifelong increased risk for cardiovascular morbidity and mortality compared to the general population, mainly caused by chemotherapy with daunorubicin. The aim of the study is to detect the rate of daunorubicin induced cardiotoxicity in children with acute lymphoblastic leukemia during induction phase chemotherapy. Meterials & Methods : This prospective observational study was conducted in the department of Pediatric Hematology and Oncology, Bangabandhu Sheikh Mujib Medical University (BSMMU) on 40 newly diagnosed patients of ALL aged between 1 to17.9 years who got daunorubicin during induction. Complete blood count and echocardiography were done and troponin I was measured in all patients before and after completion of induction period. Result: Of the 40 patients, 8 patients (20%) had developed cardiotoxicity evidenced by reduction of left ventricular ejection fraction (LVEF) in echocardiography. Baseline LVEF was 68.80±5.98% which was then reduced to 65.32±7.07% after induction phase of chemotherapy (p=0.023). No significant alteration of troponin I was seen (P= 0.581) between baseline and after completion of induction. Total WBC count and hemoglobin had a significant difference (P<0.05) between baseline and after induction period. Male patients had a greater risk of developing cardiotoxicity than females but statistically was not significant (P=0.643). There was no significant association between age of the patients and cardiotoxicity (P=0.112).Cardiotoxicity was seen higher in patient with initial high WBC count (p=0.039). Echocardiography also reveled increased tendency of mitral regurgitation and left ventricular hypertrophy after induction phase chemotherapy. Conclusion: This study showed the rate of cardiotoxicity was 20% in ALL patients treated with daunorubicin. It also found that LVEF was decreased during therapy.Echocardiography can be used to detect early cardiotoxicity induced by daunorubicin. University Heart Journal 2023; 19(1): 20-25

Diarrhea typically indicates an intestinal disorder, which can occur from viruses, parasites or bacterial infection. Along with the common diarrhea-causing pathogens, opportunistic bacteria may also play a role in the etiology of diarrheal disease. One of the opportunist bacteria that can cause diarrhea in both children and adults is Providencia stuartii. Therefore, the goal of this study is to explore the genetic mechanism of the opportunistic P. stuartii in microbial interactions with common diarrheal pathogens. Hence, P. stuartii was identified by utilizing the morphological observation and molecular techniques. Afterwards, the entire genome of P. stuartii was sequenced, assembled and annotated to explore the genomic insights. In addition, the virulence genes of 100 whole genome sequences from ten prevalent diarrhea-causing bacteria were identified and prioritized. Finally, the system biology approach was used to predict the protein-protein interaction network between P. stuartii and the virulence genes. The results of the present study suggests that complete genome sequencing of this bacteria contains 4011 proteins, which are crucial for this bacterium to survive. Additionally, 16 gene clusters provide 207 interacting genes that could interact with biological and molecular function, subcellular localization and pathway. The microbial interaction accompanying the virulence gene was found in all 10 diarrhea-causing bacteria except Clostridium difficile. These findings of this study could aid in the exploration of Providencia stuartii as the major causative agent of diarrhea. Additionally, the pathophysiology of diarrhea can be investigated using the microbial interactions between P. stuartii and the typical diarrheal bacteria. The results of this study may therefore be used to determine the most effective therapeutic targets for the development of medications to treat diarrhea.