Informativeness of St14 VNTR Polymorphic Marker in the Carrier Detection of Hemophilia A

Hemophilia A is the most common hereditary severe disorder of blood clotting. In families affected with hemophilia, genetic analysis provides opportunities to prevent recurrence of the disease. This study establishes a diagnostic strategy for carrier-ship determination in Pakistani population using an extragenic polymorphic marker for the first time. The analysis of St14 VNTR (DXS52) was carried out by polymerase chain reaction (PCR), in order to determine its informativeness in terms of heterozygosity in Pakistani population. This may be a milestone for further analysis of other polymorphic markers for carrier detection and prenatal diagnosis of hemophilia. Seventy eight blood samples (Hemophiliac = 23, Normal = 55) from 15 families were analyzed for determining informativeness of St14 VNTR in carrier detection of hemophilia A. A total of nine alleles (2400, 2100, 1750, 1690, 1630, 1570, 1390, 1300, 1220 bp) was detected in the pool of subjects. 19 out of 40 females were found to be carriers with respect to the St14 VNTR polymorphic marker. The marker was informative in 73.33% of families. The expected heterozygosity rate of the St14 VNTR was 0.86 while the observed heterozygosity was 0.7. This shows that St14 VNTR is 70% informative in our population, allowing it to be a useful marker in carrier detection, as informativeness is the direct reflection of heterozygosity of a polymorphic marker

Introduction to Medical Genetics

Medical genetics is the key to modern biochemistry and underlying mechanisms of many diseases

Evaluation of tranexamic acid in reducing blood loss and transfusions in total knee replacement

Background: Total knee replacement (TKR) is associated with substantial blood loss and thus the need for blood transfusions. Risks and costs of allogenic blood transfusions requires strategies to reduce blood loss in surgery. The objective of this study was to assess the efficacy of tranexamic acid treatment in reducing blood loss and blood transfusion requirements during TKR.Methods: A randomized controlled trial was conducted on 60 patients who were operated for unilateral TKR from January 2016 to January 2019 in Shadan Institute of Medical Sciences. 30 patients were in each control and study groups. In study group 12 mg/kg bolus of tranexamic acid was given as a slow IV dose, 40 minutes before deflation of tourniquet followed by 1.2 mg/kg/hr infusion for 12 hours with standard treatment of hospital and compared to the control group. Later blood loss was compared both intra and post operatively. Fall in haemoglobin after surgery was also compared.Results: Total blood loss in tranexamic acid group was 543.3±184.85 ml (control group 685.83±176.74 ml) which is statistically significant (p<0.05). Blood loss was markedly decreased in tranexamic acid group (379.16±174 ml in tranexamic acid vs. 513.33±143.89 ml in control group) statistically significant (p<0.05).Conclusions: Tranexamic acid is an effective strategy to reduce blood loss in patients undergoing total knee replacement and thus minimizing the need for blood transfusions

Comparison of histopathologicalfeatures of Vibrio cholerae O1 El Tor andO139 Bengal infections in rabbit intestinal mucosa

Vibrio cholerae is the causative agent of the infectious disease, cholera. The bacteria adhere to the mucosal membrane and release cholera toxin, leading to watery diarrhea. There are >100 serovars of V. cholerae, but the O1 and O139 serovars are the main causative agents of cholera. The present study aimed to compare the severity of intestinal mucosal infection caused by O1 El Tor and O139 V. cholerae in a rabbit ileal loop model.
The results showed that although the fluid accumulation was similar in the loops inoculated with O1 and O139 V. cholerae, the presence of blood was detected only in the loops inoculated with the O139 serovar. Serosal hemorrhage was confirmed by histopathological examination and the loops inoculated with O139 showed massive destruction of villi and loss of intestinal glands.
The submucosa and muscularis mucosa of the ileum showed the presence of edema with congested blood vessels, while severe hemorrhage was seen in the muscularis propria layer. The loops inoculated with O1 El Tor showed only minimal damage, with intact
intestinal villi and glands. Diffuse colonies of the O139 serovar were seen to have infiltrated deep into the submucosal layer of the intestine. Although the infection caused by the O1 serovar was focal and invasive, it was more superficial than that due to O139, and involved only the villi. These observations were confirmed by immunostaining with O1 and O139 V. cholerae-specific monoclonal antibodies. The peroxidase reaction demonstrated involvement of tissues down to the submucosal layer in O139 V. cholerae infection, while in O1 El Tor infection, the reaction was confined mainly to the villi, and was greatly reduced in the submucosal region. This is the first reported study to clearly demonstrate the histopathological differences between infections caused by the O139 Bengal and O1 El Tor pathogenic serovars of V. cholerae (atif et al., 2009)

Conservative treatment of spinal tuberculosis and its outcome: an observational study

Background: Spinal tuberculosis or Pott’s spine occurs in about 1-2% of patients with tuberculosis and accounts for 40-50% of musculoskeletal tuberculosis.It is caused due to the infection of the bone by Mycobacterium tuberculosis bacteria with the combination of spread through haematogenous route as well as lymphatic drainage.Methods: This observational study was done for a period of 2 years from Jan 2016 to Jan 2018. The total number of study participants was 51. The functional outcome was assessed using modified McCormick’s scale.Results: Majority of study participants were females accounting for 60.7% compared to males (39.21%). The main complaint of study participants was back pain (39.21%) which was followed by fever in 21.5%. Loss of appetite was the most prominent symptom seen in 15.6%. Thoracolumbar vertebrae were the site of involvement in 37.2%.Conclusions: Patients responded well with anti-tubercular treatment in mild and moderate cases of spinal TB, if there was no gross neurological deficit. Thus it is very important to identify the early symptoms of spinal TB so that timely prompt treatment should be initiated

Recent facts of eating habits and obesity among adolescent; a case of Pakistan

Background: Obesity is an escalating problem that is reaching to pandemic level. Multiple factors may involve in causing obesity such as improper food pattern of physical activities, social and ecological variables, choice of menu and other biological factors. Conducting to a study to evaluate the primary cause. However, a few studies are conducting to see the impact of eating patterns on health and weight. Methods: University students (n=150, ages 18-24 years) 50% males and 50% females were selected for data collection via questionnaire. The outcomes showed that 70 individuals prefer to eat saturated fats that can lead to accumulation of bad cholesterol. 5% females and 5% males prefer using trans-fat that is even worse. On the other hand, 44 respondents prefer to choose low fat food. Results: About 25% individuals are unaware of nutritional on facts of the products but females are more conscious as compared to the men. 55% individuals eat unconsciously while watching television and consume more than the requirement. 94 individuals got attracted by advertisement tactics of food companies and but to eat them. It is also witnessed that males (32%) consume more carbonated drinks than females (13%). 64 students strongly agreed that supplements lead to obesity. In our sample population 10% obese, 14% were overweight and 47% were of normal weight. Conclusion: The major reason of obesity could be that they are eating out more often. It could be due to the fact they are dependent on high calorie food. There is a lack of vegetables and fruits in their diet. On the other hand, fruits, veggies and whole grains are linked to less gain and even weight loss. Making smart food choices can help you stay slim and healthy.

Climate change and potential distribution of potato (Solanum tuberosum) crop cultivation in Pakistan using Maxent

The impacts of climate change are projected to become more intense and frequent. One of the indirect impacts of climate change is food insecurity. Agriculture in Pakistan, measured fourth best in the world, is already experiencing visible adverse impacts of climate change. Among many other food sources, potato crop remains one of the food security crops for developing nations. Potatoes are widely cultivated in Pakistan. To assess the impact of climate change on potato crop in Pakistan, it is imperative to analyze its distribution under future climate change scenarios using Species Distribution Models (SDMs). Maximum Entropy Model is used in this study to predict the spatial distribution of Potato in 2070 using two CMIP5 models for two climate change scenarios (RCP 4.5 and RCP 8.5). 19 Bioclimatic variables are incorporated along with other contributing variables like soil type, elevation and irrigation. The results indicate slight decrease in the suitable area for potato growth in RCP 4.5 and drastic decrease in suitable area in RCP 8.5 for both models. The performance evaluation of the model is based on AUC. AUC value of 0.85 suggests the fitness of the model and thus, it is applicable to predict the suitable climate for potato production in Pakistan. Sustainable potato cultivation is needed to increase productivity in developing countries while promoting better resource management and optimization

Validation of Vis-Screen Mobile Application for Easy Vision Test by General Public: A pilot study

Visual impairment and blindness is a serious global concern. Poor awareness and late detection are significant factors contributing to the vast number of visually impaired people worldwide. The ubiquitous use of smartphone devices enables the general public to access various services provided easily. Our Vis-Screen mobile application is developed based on the necessity for early detection of any vision problem to avoid further vision loss. Simple built-in algorithm and user-friendly features of this application suits any laypersons to do vision testing among themselves with only minimal training needed, therefore promoting the importance of healthy vision within the community.Keywords: visual acuity; mobile application; vision screening; blindnesseISSN: 2398-4287 © 2019. The Authors. Published for AMER ABRA cE-Bs by e-International Publishing House, Ltd., UK. This is an open-access article under the CC BYNC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). Peer–review under responsibility of AMER (Association of Malaysian Environment-Behaviour Researchers), ABRA (Association of Behavioural Researchers on Asians) and cE-Bs (Centre for Environment-Behaviour Studies), Faculty of Architecture, Planning & Surveying, Universiti Teknologi MARA, Malaysia.DOI: https://doi.org/10.21834/e-bpj.v4i12.189

Use of intraarticular injections of platelet-rich plasma in the treatment of knee osteoarthritis: A review article

Osteoarthritis is one of the most common degenerative conditions affecting knee joint. As our understanding in the disease pathogenesis is evolving, so do the treatment modalities. One of the postulated mechanisms suggests the production of inflammatory cytokines secondary to repeated micro trauma than in turn lead to cartilage damage overtime. Cartilage being avascular structure has limited potential for repair. Based on this, recent studies have been focusing on stimulating cartilage-healing process by growth factors. This is where platelet-rich plasma comes in to light. Literature is showing promising results of platelet-rich plasma in treating knee osteoarthritis. In this review we have discussed the preparation, composition, classification, uses of platelet-rich plasma as well as evidence for its efficacy and complications