Background Association of single nucleotide polymorphisms (SNP) rs7756992 A/G and rs7754840 G/C of cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) gene with the susceptibility of gestational diabetes mellitus (GDM) has been studied in a group of Bangladeshi women. Methods In this case–control study, 212 GDM patients and 256 control subjects were genotyped for rs7756992 and rs7754840 by PCR-RFLP and TaqMan™ allelic discrimination assay method respectively. Genotyping results were confirmed by DNA sequencing and replicated TaqMan™ assay. The odds ratios and their 95% confidence interval were calculated by logistic regression to determine the associations between genotypes and GDM. Results The genotype frequencies of rs7756992-AA/AG/GG in the GDM group and the control group were 37%/48%, 53%/45%, 10%/7% and those of rs7754840-CC/CG/GG were 51%/55%, 40.1%/39.8%, 9%/5% respectively. Under dominant and log additive models rs7756992 was revealed significantly associated with GDM after being adjusted for family history of diabetes (FHD) and gravidity. Conversely, rs7754840 was significantly associated (P = 0.047) with GDM only under the recessive model after the same adjustment. The risk allele frequency of both SNPs was higher in the GDM group but significantly (P = 0.029) increased prevalence was observed in the rs7756992 G allele. When positive FHD and risk alleles of these SNPs were synergistically present in any pregnant woman, the chance of developing GDM was augmented by many folds. The codominant model revealed 2.5 and 2.1 folds increase in odds by AG (rs7756992) and GC (rs7754840) genotypes and 3.7 and 4.5 folds by GG (rs7756992) and CC (rs7754840) genotypes respectively. A significant 2.7 folds (P = 0.038) increase in odds of GDM resulted from the interaction of rs7756992 and family history of diabetes under the dominant model. The cumulative effect of multigravidity and risk alleles of these SNPs increased the odds of GDM more than 1.5 folds in different genotypes. Conclusion This study not only revealed a significant association between rs7756992 and rs7754840 with GDM but also provided the possibility as potential markers for foretelling about GDM and type 2 diabetes mellitus in Bangladeshi women.

Now a day’s Low-back pain is a major health problem in all over the world. 70-80% people have suffering with LBP at any time of their life. More than 200 million people who hassuffered by incontinence which occurs mostly during middle age and associated with quality of life. Female were more vulnerable than male due to the body structure and exposure. Core muscle strengthening improves their overall function and daily quality of life. Pilates helps to improve their core muscles strength and helps to solve their incontinence problem. In this case 45 years old women are a housewife with three children. She was suffering from back pain with incontence problem for few months. Gradually she was feeling weakness in her left lower limb and more the leakage problem especially in stress position during coughing, sneezing time. The course of intervention started with Mackenzie Mechanical Diagnosis and Therapy of lumbar spine. Repeated Extension in Lying, 10 repetitions every 2 hours. From 4th weeks started pelvic floor strengthening exercise. Strengthening of back muscle and stabilization exercise of lumbar spine has been started after 3 weeks as adjacent therapy. LBP with incontinence may be benefited by thoracic spine mobilization including stretching of hip flexors, piriformis muscles According to WHO, describes any disorder causes not only physical impairments, but also causing limitation in activities, restriction in participation and contextual factors which have been perfectly described by ICF. Within 6 weeks of treatment, she progressed in pain and radicular symptom, muscle strength and gradual activity participation. She also had an experience of adapting the situation and upholding her household activities. Among all other complications urinary incontinence was the most irritable conditions which affected mostly the quality of life. Most of the time surgical interventions were not so much effective than behavioral and therapeutic exercises. Physiotherapy core strengthening exercises with Pilate’s method were helpful for their improvement of this condition.

Background Pirin, a member of the cupin superfamily, is an iron-binding non-heme protein. It acts as a coregulator of several transcription factors, especially the members of NFκB transcription factor family. Based on the redox state of its iron cofactor, it can assume two different conformations and thereby act as a redox sensor inside the nucleus. Previous studies suggested that pirin may be associated with cancer, inflammatory diseases as well as COVID-19 severities. Hence, it is important to explore the pathogenicity of its missense variants. In this study, we used a number of in silico tools to investigate the effects of missense variants of pirin on its structure, stability, metal cofactor binding affinity and interactions with partner proteins. In addition, we used protein dynamics simulation to elucidate the effects of selected variants on its dynamics. Furthermore, we calculated the frequencies of haplotypes containing pirin missense variants across five major super-populations (African, Admixed American, East Asian, European and South Asian). Results Among a total of 153 missense variants of pirin, 45 were uniformly predicted to be pathogenic. Of these, seven variants can be considered for further experimental studies. Variants R59P and L116P were predicted to significantly destabilize and damage pirin structure, substantially reduce its affinity to its binding partners and alter pirin residue fluctuation profile via changing the flexibility of several key residues. Additionally, variants R59Q, F78V, G98D, V151D and L220P were found to impact pirin structure and function in multiple ways. As no haplotype was identified to be harboring more than one missense variant, further interrogation of the individual effects of these seven missense variants is highly recommended. Conclusions Pirin is involved in the transcriptional regulation of several genes and can play an important role in inflammatory responses. The variants predicted to be pathogenic in this study may thus contribute to a better understanding of the underlying molecular mechanisms of various inflammatory diseases. Future studies should be focused on clarifying if any of these variants can be used as disease biomarkers.

The necessary modifications in the protocol of general purpose DNA isolation kit to isolate and amplify a target region of genome from colorectal cancer tissues fixed in liquid formalin were made. It is shown that a one hour digestion with proteinase K yields enough DNA from formalin fixed colorectal tissue for subsequent PCR and sequencing. Moreover, using 100% ethanol instead of standard 50% during DNA binding step in the column improves the yield. As DNA fragmentation is unavoidable in formalin fixed tissue, PCR protocol was modified by increasing polymerase concentration to get successful amplification. Following these modifications, two regions of KRAS and BRAF genes were amplified and successfully sequenced from three different patients. These modifications provide a low cost option for Sanger sequencing of DNA isolated from formalin fixed tissue. Dhaka Univ. J. Biol. Sci. 29(2): 165-174, 2020 (July)

Spinal Cord Injury (SCI) is a major cause of disability and morbidity throughout the world and Asia. The association between CSCI and voice difficulties is clinically well-recognized. So this study was meant to determine the impacts on voice following CSCI. The study aimed to determine the impacts on voice following Cervical Spinal Cord Injury (CSCI). Additionally includes finding out the proportion of voice difficulties among CSCI patients, to identify the number of functional, physical, and emotional impacts on voice after CSCI, and to determine the socio-demographic characteristics of the study population. This study was conducted by using a cross-sectional prospective survey method at the SCI unit of CRP. Participants were selected by using purposive sampling. The result states from the research that CSCI is more common in males than females and nearly half of the person has physical, emotional, and functional impacts on voice after CSCI. Among participants, the maximum participants 22.5% (18) rated their voice problem at a moderate level (VHI=11-20) after CSCI and 11.3% (9) participants faced voice problems at a very severe level, 13.8% (11) participants had severe level voice problem. The association between surgeries happened or not happened and the severity of voice problems among CSCI patients showed statistically non-significant. Patients with cervical spinal cord injury faces several clinical problems in our country, whereas nearly most of them experience mild to moderate voice deficits secondary to poor respiratory support. In Bangladesh, Speech & Language Therapy services for SCI patients are newly introduced in the last few years. So for providing proper comprehensive services to SCI patients the monitoring of communicative function from the acute phase to the community reintegration phase is essential.

BackgroundLymphedema–distichiasis syndrome (LD, OMIM 153400) is a hereditary primary lymphedema with autosomal dominant nature of inheritance and variable expression. LD is characterized by late childhood or pubertal onset of lower limb lymphedema and an aberrant second row of eyelashes (distichiasis) arising from the meibomian glands. Underlying molecular causes include mutations in the FOXC2 gene, which codes for a forkhead transcription factor involved in the development of the lymphatic and vascular system. ResultsIn this study, we report the first case of LD from Bangladesh with classical lymphedema–distichiasis syndrome who carries an eight-base-pair deletion in the FOXC2 -gene. ClinVar accession code for this deletion is RCV000007679.3. Although most other mutations of this gene are unique among different families, literature survey indicates this 8 bp deletion has been reported multiples times in independent studies for families from different geographical regions. ConclusionFOXC2 protein is 501 amino acid long. This deletion of 8 bp (ACGCCGCC) causes frameshift of codons after amino acid number 304. The frameshift creates an altered truncated protein with 154 newly amino acids after codon 304. We assume that these changes in the protein may affect its function contributing to the disease manifestations. Further research may confirm these assumptions.

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