Responses of ß-thalassemia and compound heterozygote of Sickle/ßthalassemia of BCL11A Gene Polymorphism in Pakistani Patients.

Background and Objective: Beta-thalassemia major (ß-Thal) and compound heterozygote of Sickle ß-thalassemia (S-ß Thal) are hereditary autosomal recessive disorders resulting from mutations or deletion in ß-globin gene cluster. Patients with increased HbF levels having polymorphism at BCL11A site loci have shown clinical significance. The present study aimed to assess the frequency of BCL11A gene polymorphism in a study population of ß-Thal, S-ß Thal & Controls using Sanger sequencing leading to plot the HbF response of polymorphism with reference to wild type. Methods: The sample size of the study is n=180, groups were divided in Controls, ß-thal & S-ß thal. One ml blood was drawn from patients and controls to extract DNA for PCR amplification and BCL11A locus genotyping using Sanger sequencing. This study was carried out at Dow Research Institute of Biotechnology and Biomedical Sciences, for one year from March 2021 to February 2022. Results: The HbF response of three groups is hyperbolic with 83 for ß-Thal, 16 for S-ß Thal and close to zero for controls. The frequency of heterozygous variant GA of BCL11A gene polymorphism is 51%. The frequency of homozygous variant GG is 49%. Complete absence of wild type AA in patient group. The frequency of BCL11A polymorphism in control group was 43% (with male 18% and female 21%) showing wild type status of 57%. Conclusions: The patient groups of SCD and Beta thalassemia are devoid of wild type status. The wild type status of BCL11A is 57% even in control population. Higher level of HbF in B-thalassemia and SCD and B Thalassemia is a cost-effective screening marker before switching to an expensive genotyping testing.

Association of Paraphenylenediamine (PPD), with suicidal attempts in Pakistan- A cross-sectional study.

OBJECTIVE: This study will provide us the details about the vulnerable population in relation to suicidal attempts by ingesting paraphenylenediamine and will help in designing focused preventive measures to address this serious health issue while reducing the burden on healthcare resources. METHODS: This descriptive cross-sectional study was carried out from January 1, 2017 to December 31, 2021 at the National Poison Control Centre, Karachi, using a consecutive sampling technique. The sample size was n = 321 reported cases of Paraphenylenediamine poisoning, data was collected from the hospital record. Incomplete records were excluded. The analysis was done using SPSS Statistics (version 22), a statistical software suite developed by IBM. Numerical data was expressed as mean and standard deviation. Categorical data associations were recorded using chi-square. A p-value less than 0.05 was taken as significant. RESULTS: There were n = 321 patients who reported with paraphenylenediamine poisoning to National Poison Control Centre, of which 53.8% (n = 173) were females. While 55.4%(n = 178) of patients were young post-adolescent adults (aged 20-40 years). Analysis according to months revealed that a maximum number of cases 15.26% (n = 49) were reported in April. The mortality rate was 12.1% (n = 39). CONCLUSION: Paraphenylenediamine ingestion has a strong association with suicidal attempts, post-adolescent females are most vulnerable. The cases of paraphenylenediamine ingestion were highest in Spring and summer seasons in Karachi. A nationwide ban on the trade of paraphenylenediamine will obviously reduce accessibility and the number of suicides.

Student's opinion regarding teaching methods: A survey amongst MBBS and BDS students of a private Medical University in Karachi - Short Communication.

A cross sectional study was conducted in a private medical university among undergraduate MBBS and BDS students, to ascertain their opinion regarding various teaching methods. Convenience sampling technique was utilized with data collection spanning over March to August 2015 on a sample of 398 students. A self-administered questionnaire was used for the purpose. Descriptive analysis was applied for numerical data while chi square was used for categorical data. P value under 0.05 was considered significant. Our results showed that around 120 (30%) of the participants supported PBL as the most effective teaching method while 64(16%) considered clinical rotations, and 60(15%) voted for lectures. According to undergraduate students Problem-based Learning is the most significant tool for learning. Integrated method of teaching was endorsed by both MBBS and BDS students.

Diagnostic Accuracy of Risk of Ovarian Malignancy Algorithm (ROMA) in Post-Menopausal Patients with Ovarian Mass.

OBJECTIVE: To determine the diagnostic accuracy of ROMA in postmenopausal women with history of ovarian mass. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Dr. Ziauddin University Hospital, Karachi, from May 2014 to June 2015. METHODOLOGY: Two hundred and sixty postmenopausal women of 40-65 years of age with ovarian masses, planned for surgery, were included in the study. Their samples were obtained preoperatively and analysed on Abbot Architect i1000 SR immunoassay analyser for quantitative estimation of tumor markers, i.e. HE4 and CA125. By combination of these two tumor markers, ROMA scores were calculated and studied after histopathological verification of masses. RESULTS: Total number of patients were 260, out of which 122 (46.9%) were diagnosed as having ovarian cancer, while 138 (53.0%) were diagnosed as benign condition. Median ROMA score levels in patients with malignant masses were 95.58 (IQR=44.4) as compared to 20.6 (IQR=14) in benign masses. ROMA had sensitivity 92.6% (CI=86.47-96.04), specificity 78.3% (CI=70.09-83.82), positive predictive value 79% (CI=70.87-84.29), negative predictive value 92.3% (CI=86.02-95.9) and positive likelihood ratio 4.26, while negative likelihood ratio 0.1. Diagnostic accuracy of ROMA was 85%, based on ROC curve analysis. ROMA had the highest sensitivity in detecting ovarian carcinoma. CONCLUSION: ROMA is a very useful diagnostic tool for the preoperative stratification of patients with ovarian masses showing 85% diagnostic accuracy. However, there is need of more studies with homogenous laboratory procedures for HE4 and CA125 assays as well as patients, selection criteria, so we can draw firm conclusion about utility of ROMA in clinical setups.

Case reports and their importance in Medical Literature.

It is important to appreciate how case reports have paved the way for modern research. They are still largely considered the first line of evidence. Indeed global endemics such as HIV and Zika Virus have been traced back to initial case reports. Strictly speaking; case reports are anecdotes - a factual story telling about nature's own experiment. Case reports can be characterized by two huge advantages, their ability to present novel, rare cases in a manner that can lead to the expansion in research of such cases and their use in generating new, innovative hypothesis that can be used to direct further research. The aim of this article is to identify the place and purpose of case reports in the current research setting with a focus on highlighting its merits and limitation amongst other things.

Tuberculosis knowledge and health seeking behaviour: A tale of two districts of Sindh, Pakistan.

OBJECTIVE: To assess the knowledge about tuberculosis and health-seeking behaviour of people living in rural areas of Sindh. METHODS: This cross-sectional survey was conducted by the Pakistan Red Crescent Society in Dadu and Badin districts of Sindh, Pakistan, from January to August 2014. Cluster sampling technique was used for the selection of 900 households from two union councils. Those staying for less than 6 months and who refused to participate were excluded. Personal interviews were conducted by trained data collectors on pretested questionnaire. Data was analysed using SPSS 20. RESULTS: Of the 900 households, there were 450(50%) in each districts. In Dadu, 298(66.6%) participants were illiterate compared to 236(52.4%) in Badin. Half of the respondents n= 225 (50%) in Dadu were farmers compared to 136(30.2%) in Badin. Besides, 341(75.7%) in Dadu and 311(69%) in Badin were earning less than Rs10,000 per month. In addition, 318(70.6%) respondents in Dadu and 235(52.2%) in Badin had heard about tuberculosis. In Dadu, 237(52.6 %) thought it was curable compared to 263(58.4%) in Badin, whereas 32(7%) in Dadu and 45(10%) in Badin thought there was no remedy for it. Besides, 216(48%) villagers in both the districts were of the opinion that fever was the chief symptom, followed by cough and weight loss. Only 109(24.2%) respondents in Badin district confirmed the presence of a lady health worker in their village compared to 75(16.6%) in Dadu. CONCLUSIONS: Pakistanis living in rural areas had insufficient knowledge about most aspects of tuberculosis, and held misconceptions about the disease.

Post-dialysis effects in patients on haemodialysis.

OBJECTIVE: To assess the post-dialysis effects in normal and diabetic patients on haemodialysis. METHODS: This cross-sectional study was conducted from January to December 2013 at two hospitals in Karachi, and comprised patients receiving dialysis. Participants were selected through purposive sampling technique. SPSS 20 was used for data analysis. RESULTS: Of the 150 subjects, 148(98.8%) were diabetics. Overall, 93(62%) were men and 57(38%) women. Besides, 22(14.7%) participants were having dialysis as a complication of hypertension and 128(85.3%) as a complication of diabetes. Diabetes was a comorbid condition for 148(98.7%) patients, hypertension for 139(92.7%) and cardiac diseases for 40(26.7%). Of the total, 114(76%) subjects were having dialysis thrice a week, 31(20.7%) twice and 5(3.3%) once. Post-dialysis, dizziness was present every time in 25(16.6%) patients, nausea and vomiting in 14(10%), cramps in 22(14.7%), headache in 21(14%), anxiety and depression in 16(10.7%), hunger in 43(28.7%) and itching in 30(20%). CONCLUSIONS: Post-dialysis complications were common in normal and diabetic patients. Nutritional status was found to be poor among long-term dialysis-dependent diabetics.

Factors contributing to early menarche in school girls.

OBJECTIVE: To assess the average age of menarche in Pakistani girls from different socioeconomic backgrounds. METHODOLOGY: This was a cross sectional study design carried out on female students studying in different schools of Karachi in 2014. Girls aged 10-14 years age were included. Schools from all three socio economic strata were selected through random sampling technique from a list of schools having health care services. Data was collected through a self-administered questionnaire translated in Urdu where required. Height and Weight was measured through calibrated instruments. Sample size was n=385 based on maximum proportion of 50%. Analysis was done on SPSS version 20. Chi-square and ANOVA was applied after checking data for normality. RESULTS: The total sample size was 275 after excluding poorly filled questionnaires. The mean age of menarche in our sample population was 11.73±1.2 years. Out of the total participants 127 (46%) students had reached the age of menarche. It was found that mean age of menarche was highest in participants of Kashmiri origin 14.5±0.1 years and lowest mean age was observed in those of Gujrati origin at 11.0±0.1 years (p 0.036). When mean age of menarche was compared with socioeconomic class highest mean age was observed in lower class 12.13 ±0.1 (p 0.268). CONCLUSIONS: Our study reveals a decline in the mean age of menarche of at least 2 years in girls aged 10-14 years.

Knowledge, Attitude, and Self Care Practices Amongsts Patients WithType 2 Diabetes in Pakistan.

BACKGROUND: In this age, diabetes is one of the most prevalent, incurable diseases present. The aim of this study was to assess knowledge, attitude and self-care practicesrelated to diabetes in an urban population in Pakistan. METHODS: A cross sectional survey to assess the knowledge and practices of people with diabetes was conducted in general urbanpopulace. People with diabetes were interviewed using a structured questionnaire from which data was collected. A total of 139 diabetics were included into the study. Basic knowledge about diabetes and its complications were assessed as well as the frequency of practices such as keeping a blood glucometer at home and checking blood sugar with it. RESULTS: A total of n=139 participants fulfilling the inclusion criteria were recruited in the survey. Only 18.7% had knowledge regarding the complications of diabetes mellitus. Only 8.6% of participants checked their blood glucose levels at homeregularly, and only 4.3% visited their physiciansregularlyfor check-ups. With regard to practices, a minority attested to have changed their lifestyle and commit to basic practices in order to reduce diabetes related complications with women being more prone to changes than men. CONCLUSION: The results show that most participants had a negative attitude and very little knowledge regarding diabetes.There is a need for increased diabetes related education and for developing positive attitudes towards reduction of diabetes related complications. The Pakistani population is seen to be almost completely unprepared to fight against an increase in type 2 diabetes prevalence.

Frequency of De Quervain's tenosynovitis and its association with SMS texting.

OBJECTIVE: to assess the frequency of De Quervain's tenosynovitis and its association with SMS texting. METHOD: a cross-sectional survey was conducted among undergraduate students studying in different physical therapy schools of Karachi belonging to both public and private sectors. Sample size was 300 students which were selected through convenience sampling. Data was collected through self-administered questionnaire and severity of the pain was assessed through Universal Pain Assessment Tool and De Quervain's tenosynovitis was diagnosed through Finkelstein test. Data entry and analysis were done using computer software SPSS version 20. Frequency and percentages were taken for categorical variable. Chi-square was applied to determine association between different variables and Finkelstein test. P value < 0.05 was considered significant. RESULTS: male/female ratio was 1:4. Regarding the use of cell phones, majority 165 (55%) were using regular cell phones, another 89 (30%) were using touch screen and 38 (13%) were using QWERTY key pads. Almost half of the students were frequently using cell phones for texting, out of them 132 (44%) texted less than 50 messages per day. Another 96 (32%) did texting between 50-100 texts. Out of 300 students who filled the questionnaire 125 (42%) students were experiencing pain in the thumb/wrist. Finkelstein test when done on students almost half (n=149) showed positive results. It was noted that as frequency of mobile phone usage increased progressively more and more people showed positive Finkelstein Test (p value 0.000). CONCLUSION: the result of the study concluded that almost half of the students use their mobile phones for texting more than 50 S.M.S per day and because of their mobile key pads and high speed of texting they experienced pain and weakness over the base of the thumb/wrist which shows the De Quervain's positive in that students and there is a positive association between the thumb pain and frequent text messaging.