Fok1 VDR Gene Polymorphisms as the Risk factor for Diabetes Mellitus.

OBJECTIVE: To investigate the prevalence of single nucleotide polymorphisms of vitamin D receptor (VDR) gene, and its association with Type 2 Diabetes Mellitus. STUDY DESIGN:  Cross-sectional study. PLACE AND DURATION OF STUDY: Ziauddin University Hospital, Karachi, from January 2018 to 2020. METHODOLOGY: A total of 200 unrelated individuals, aged 25 to 65 years, were selected and divided into two groups, T2DM patients (100) and non-diabetic controls (100). After consent, demographics, diabetic history and related risk factors were recorded in a standard questionnaire and blood was collected. The VDR (Fok1, Taq1 and Apa1) polymorphisms were analyzed through PCR and RFLP. RESULTS: In T2DM patients, F/F and F/f genotypes were found in 49 (49%) and 45 (45%) patients, respectively. The ff genotype was less common in T2DM [6 (6%)], compared to healthy controls [14 (14%)], (odds ratio=0.473, 95% CI: 0.267-0.839). The frequency of T/t genotype was 36% and 31% in the control and diabetic group respectively while for A/a genotype was 38% and 34% respectively, the results were not statistically significant. CONCLUSION: T2DM was found significantly associated with Fok1 Polymorphisms of VDR gene. The study found a protective role of ff of Fok1 in diabetic patients. Further studies in larger cohorts are required for validation. KEY WORDS: Polymorphism, Restriction fragment length, Receptor, Vitamin D3 receptor, Type 2 diabetes mellitus.

Spermatozoa retrieval in azoospermia and expression profile of JMJD1A, TNP2, and PRM2 in a subset of the Karachi population.

BACKGROUND: The difficulties encountered in surgical spermatozoa retrieval for intracytoplasmic sperm injection procedure in azoospermic men have stressed the dire need for a robust biomarker for the prediction of spermatozoa retrieval. Data have highlighted the role of JMJD1A (Jumonji domain-containing 1A), a histone H3K9 demethylase, and other nuclear proteins, protamines (PRM) and transition nuclear proteins (TNP), as biomarkers in male infertility. OBJECTIVE: To access successful spermatozoa retrieval at the time of intracytoplasmic sperm injection by evaluating the mRNA expression profile of JMJD1A, TNP, and PRM in testicular tissue. MATERIALS/METHODS: About 100 azoospermic patients, who visited the Australian Concept Infertility Medical Center, Karachi for spermatozoa retrieval by testicular sperm extraction or microsurgical testicular sperm extraction participated in the study. mRNA expression of the JMJD1A, TNP1, TNP2, PRM1, and PRM2 genes was determined. Patients were categorized into successful spermatozoa retrieval (n = 42) group and unsuccessful spermatozoa retrieval (n = 58) group. RESULTS: Azoospermic men in successful spermatozoa retrieval had significantly increased expression of JMJD1A, TNP2, and PRM2. The hormonal parameters - follicle-stimulating hormone, luteinizing hormone, and thyroid-stimulating hormone were significantly higher in unsuccessful spermatozoa retrieval. Multivariate analysis showed a significant association between JMJD1A, TNP2, PRM2, and successful spermatozoa retrieval. The area under the receiver operating characteristics curve showed a significant discriminatory ability to predict the spermatozoa retrieval outcome in azoospermic patients for mRNA expression of JMJD1A, TNP2, and PRM2 was 71, 72, and 73%, respectively. The area under the curve for follicle-stimulating hormone, luteinizing hormone, and thyroid-stimulating hormone was 0.67, 0.81, and 0.65, respectively. DISCUSSION: Our study demonstrates that the mRNA expression profile of JMJD1A, TNP2, and PRM2 along with hormonal parameters, is a useful marker to assess the probability of spermatozoa retrieval before intracytoplasmic sperm injection intervention. CONCLUSION: The probability of spermatozoa retrieval in azoospermic patients is increased when the mRNA expression profile of JMJD1A, TNP2, and PRM2 in testicular tissue is increased.

Effects of osteoanabolic exercises on bone mineral density of osteoporotic females: A randomized controlled trial.

OBJECTIVES: With the increase in the life expectancy of older adults, the scoring diagnosis of osteoporosis has been highly reported hence rising the incidence of fragility fractures due to decrease in bone mineral density (BMD), thereby significantly impacting the quality of life and health status of elderly population. The aim of this study is to identify the impact of different exercise regimes in improving the BMD among osteoporotic females. METHODOLOGY: A trial was conducted on 93 diagnosed postmenopausal osteoporotic females aged 50-75 years screened on the basis of physical activity readiness-questionnaire and YOU form randomly divided equally into three groups', that is, aerobic, anaerobic, and osteoanabolic exercises using an envelope method. The intervention was given on the basis of American College of Sports Medicine (ACSM), frequency, intensity, time, and type protocol for the period of 12 weeks. The pre- and post-BMD was determined to find out the improvements on the t-value of the participants. The outcome measure was calculated using a peripheral dual X-ray absorptiometry scan (bone densitometer). RESULTS: At 95% of confidence interval, the pre- and post-median difference observed within the osteoanabolic group was 0.4 followed by 0.3 and 0.1 in the aerobic and anaerobic groups, respectively. The level of significance was determined by applying the Friedman test revealing a statistically significant difference P < 0.001 between the groups. Further, post hoc analysis shows that osteoanabolic exercises were more significant in comparison with aerobic and anaerobic exercises. CONCLUSION: Structured physical exercises based on ACSM protocol show improvement among the osteoporotic females; however, the impact of osteoanabolic exercises significantly increased the BMD, thus reducing the t-value. However, larger scale studies in different clinical settings are recommended for more accurate results.

Effects of spinal mobilization techniques in the management of adolescent idiopathic scoliosis - A meta-analysis.

OBJECTIVES: The aim of this study is to examine the effectiveness of diverse exercise regimes used in multiple Randomized Control Trials as the only conservative management strategy for increased Cobb angle among Adolescent Idiopathic Scoliosis. METHODS: Database such as Google Scholar, Medline, and BioMed Central was reconnoitered for the purpose of research articles of interest. Studies in which the effects of conservative management of scoliosis on the magnitude of Cobb angle were calculated were scrutinized procedurally, studies fulfilling the inclusion criteria were retrieved and encompassed in the present study. RESULT: A total of 698 cases of AIS that were included in 17 controlled trials are part of this meta-analysis. The pool effects were measured using a standardized mean difference between the experimental and control group at 95% of confidence interval using Hedges'g statistics. Outcomes analyzed, reveals favorable for exercises based experimental group in term of standardized mean difference with an impact of 0.42° on random effect model, according to a Cohen's rule of thumb that depicts a near to moderate effects of exercises based interventions on Cobb angle. CONCLUSION: The present study concludes that therapeutic exercise regimes alone have a pivotal role in both decelerating the progression of the curve and reducing the already increased magnitude of the curve.