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The discovery of circulating cell-free fetal DNA (cff-DNA) in maternal plasma has inspired the noninvasive prenatal testing (NIPT) approaches for various genetic fetal screening including rhesus D typing, sex determination, aneuploidies, and single-gene disorders. Noninvasive determination of paternally inherited beta-thalassemia mutations in maternal total cell-free DNA (cf-DNA) by using allele-specific amplification refractory mutation system (ARMS) real-time PCR (RT-PCR) in concordance with the conventional invasive method. An observational study was conducted at the Armed Forces Institute of Blood Transfusion in collaboration with the genetics resource center from March 2021 to August 2021. A total number of 26 couples were selected having a history of previously affected children with beta-thalassemia. A routine chorionic villus sampling (CVS) invasive procedure was carried out, and the mutation analysis was done using conventional PCR. To assess NIPT, a total cf-DNA was also extracted from maternal plasma and analyzed using allele-specific ARMS RT-PCR. Based on conventional PCR testing, 13 of 26 couples were found having beta-thalassemia carriers with homozygous mutation, and 13 couples were carriers with heterozygous mutations. Further to assess NIPT, the cf-DNA of 13 pregnant females among the couples with different mutational patterns was analyzed by allele-specific ARMS RT-PCR to detect paternally inherited mutations. In comparison with conventional PCR, 11 cases (84.6%) were matched successfully, while two cases (15.4%) had no concordance with conventional invasive prenatal testing (IPT). NIPT using maternal cf-DNA by allele-specific ARMS RT-PCR can be feasible to screen paternal inherited mutant alleles to rule out pregnant women from invasive procedures where the test would be negative for paternal inheritance. However, a low amount of fetal DNA in maternal plasma is a limiting factor and required further improvement to enrich fetal cf-DNA for complete concordance with conventional IPT. [ABSTRACT FROM AUTHOR]

Objective: To determine association of TPH2 (rs7305115) gene polymorphism with age of MDD cases and controls in Pakistani population. Study Design: Case-control study. Setting: Multidisciplinary Lab in Islamic International Medical College Trust in Collaboration with Psychiatry Department, Railway General Hospital, and Rawalpindi. Period: September 2019 to September 2020. Material & Methods: After taking written informed consent blood samples were drawn from all the participants followed by extraction of DNA using ChelexTM method. Allelic frequencies of TPH2 (rs7305115) gene polymorphism in both cases and controls were determined using Multiplex PCR. Results: Number of participants included in the study were 240, out of which 120 were diagnosed cases of MDD whereas 120 were age and gender matched controls. Both the cases and controls were divided in to three groups on the basis of their ages. In group 1 both subjects aged 15 to 35 years were included and a total of 128 subjects fall under this age group out of which 64 (53.33%) were cases and 64 (53.33%) were controls. In group 2 subjects aged 36 to 55 years were included and a total of 86 individuals were found to be present in this age group out of which 45 (37.5%) were cases and 41(34.1%) were controls and in group 3 subjects aged 56 to 75 years were included and a total of 26 individuals were present in this group out of which 11(9.16%) were cases and 15(12.5%) were controls. Significant association was found between age group 1(15-35 years) and GG genotype with risk of development of MDD (OR: 0.3778, 95% CI: 0.1512-0.9349, P= 0.0338). Conclusion: We have found in the present study that age group 1(15-35 years) with GG genotype of TPH2 gene polymorphism have a significantly increased risk of developing MDD as compared to other age groups in our study. [ABSTRACT FROM AUTHOR]

Objective: To determine an association of single nucleotide polymorphism of the NRF2 gene (RS6721961) with semen parameters of primary male infertility patients in the Pakistani population. Study Design: Comparative cross-sectional study. Place and Duration of Study: Department of Biochemistry, Islamic International Medical College, Rawalpindi, in collaboration with two private infertility clinics (American Infertility Center, Rawalpindi and Mother and Child International Hospital and Research Institute, Mirpur, AJK) from Oct 2020 to Sep 2021. Methodology: A total of 288 participants were included in this study. There were 144 diagnosed cases of primary male infertility and 144 healthy fertile males, age and ethnicity matched controls. Blood samples were collected from participants after obtaining written informed consent. DNA was extracted by the Chelex TM Methodoogy. Multiplex PCR was done to determine the respective allelic frequencies of NRF2 (RS6721961) genotypes using specific primers. Results: There was no significant association between NRF2 genotypes and semen volume and semn colour in infertile males (p-value 0.32 and 0.84, respectively). Out of 144 cases, 111 (77%) had normal sperm count, 29 (20.1%) had oligospermia, while 4 (2.7%) patients had azoospermia. A significant association was observed between NRF2 genotypes and sperm concentration of infertile males (p-value <0.001). Out of 144 cases, 80 (55.5%) had normal motility, 57 (39.5%) had asthenospermia while 7 (8.4%) patients had necrospermia. A strong association was observed between NRF2 genotypes and sperm motility in infertile males (p-value <0.001). Conclusion: Single nucleotide polymorphism (RS6721961) of the NRF2 gene is significantly associated with sperm concentration and sperm motility in infertile males in the studied Pakistani population. [ABSTRACT FROM AUTHOR]

Objective: To determine the association of single nucleotide polymorphism of vitamin D receptor gene Fok 1 (rs10735810) with dental caries in Pakistani adolescents. Study Design: Case-control study. Place and Duration of Study: Biochemistry Department, Islamic International Medical College, Rawalpindi in cooperation with Pathology Department, Railway General Hospital, Rawalpindi Pakistan, from Sep 2019 to Aug 2020. Methodology: A total of 304 participants were included in the study. There were 152 dental caries cases and 152 normal agematched controls. After taking written informed consent, blood samples were collected from each participant. DNA extraction was done by Chelex Method. PCR was carried out to determine the respective allelic frequencies of Fok 1 (rs10735810) genotype using specific primers. Results: Out of 304 study participants, there were 26 males (17.1%) and 126 females (82.9%) in case-group; and 37 males (24.3%) and 115 females (75.7%) in control-group. No significant association of Fok 1 (rs10735810) genotype with DMFT score was found in dental caries case-group. Regarding genotypic and allelic frequencies, there was no significant association of Fok 1 (rs10735810) genotype with dental caries case-group. Conclusion: Single nucleotide polymorphism of vitamin D receptor gene Fok 1 (rs10735810) is not associated with dental caries in Pakistani adolescents. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the overall impact of using e-learning resources by Riphah faculty members in terms of their satisfaction and its usefulness for student learning. Study Design: Cross-sectional survey. Place and Duration of Study: Conducted in Islamic International Medical College, from 24th Jun to 28th Jun 2020. Methodology: There were a total of 160 respondents of Riphah faculty of Medical College (n=100), Dental College (n=30) and Rehab Sciences (n=30). Results: A total of 58.8% of the faculty agreed that online education is convenient for their working and the concept of online mode of teaching was acceptable to 65.6%. Faculty-development workshops were appreciated by 60%. About 70% disagreed that face-face lectures can be replaced by online lectures. Regarding Perception of student online teaching and assessment 66.9% disagreed that they are attentive during the online lectures. As far as the preparedness towards online learning was concerned 33.8% agreed that preparation for online lectures requires a lot of effort. 52.5% agreed that learning of online technologies is difficult to learn. Major challenges faced were those of network issues 56.3% lack of computer skills 64.4%. According to Kirk Patricks’ evaluation level-1 regarding the reaction of faculty 96.3% were satisfied with the faculty development program. Conclusion: Reaction of the employees is recorded to identify aspects, which can be used to make improvements in the training programs. A very high percentage of faculty members were satisfied with the training activities and strengths and weaknesses were elaborated along with the factors, which promote and hinder the students learning activities. [ABSTRACT FROM AUTHOR]

Byline: Amena Rahim and Khadija Iqbal ABSTRACT OBJECTIVE: To assess the quality and management of the modular system in the first two years of Islamic international medical college Rawalpindi. METHODOLOGY: [...]

Objective: To evaluate the association of miR-196a rs11614913 C/T genetic variation and its target gene annexin A1 mRNA expression with breast cancer risk in Pakistani female ethnicities. Methods: This case control study, conducted from March 2017 to November 2018 included 295 breast cancer patients, 295 controls of three Pakistani ethnicities and archived 100 samples of cohort group for genotyping and expression profiling. Genotyping of miR-196a (rs11614913 C/T) was done by ARMS PCR technique. Annexin-A1 (ANXA1) mRNA expression was measured with qRT-PCR and detection of protein expression of ANXA1 was done by immunohistochemistry. Results: CC homozygous genotype of miR-196a rs11614913 was present in 81.4% of cases and 73.9% controls. C/T polymorphism was found to be significantly associated with decrease risk of breast cancer (OR=0.25 (0.11- 0.58, p <0.05). Similar trend was seen with the minor T allele (OR=0.55 (0.39-0.77, p <0.05, and both dominant and recessive models (OR=0.64; p=0.02 and OR=0.26, p=0.00). In the KPK ethnic group significant decrease association with breast cancer risk was observed (OR= 0.22 (0.09-0.53, p < 0.05). Immunohistochemical staining showed loss of ANXA1 protein expression in 72 samples, and significant association was observed with pathological type p=0. 00 and triple negative receptor status p=0.03 and with genotypes of miR-196a p=0.00. Increase relative expression of 2.81± .88 by qPCR analysis of ANXA1 mRNA was noted with TT genotype. Conclusions: Our results demonstrate that miR-196a rs11614913 C/T polymorphism is associated with a decreased risk and loss of protein expression in breast cancer in the Pakistani population. [ABSTRACT FROM AUTHOR]

Objective: To correlate Cystatin C with GFR and urinary albumin in order to find it out as a marker of early detection of kidney disease (diabetic nephropathy). Study Design: A cross sectional analytic study Place and Duration: The Department of Biochemistry, Islamic International Medical College from 15th March, 2016 to 14th March, 2017. Methodology: The diabetic patients having urinary albumin creatinine level between 30 mg/g to 300 mg/g were selected. The estimation of urinary albumin levels and cystatin C levels were carried out on IMAGIN Specific Protein Analyzer. GFR was calculated using standardized clinical and pathological parameters of creatinine levels, patients age, gender and body size and a cutoff value of GRF of < 60 ml was set for probable nephropathy. Results: Mean age of patients was 56.1 ± 5.4 years with male predominance (58.5%). Non-parametric spearman's correlation coefficient found out that GFR was negatively correlated with Cystatin C (-.305). The correlation coefficient for and Cystatin C and urinary albumin was (0.517) showing a perfect positive linear relation. Conclusion: Cystatin C was found significantly correlated with GFR and urinary albumin, thus, validating previous findings regarding Cystatin C's role as an early marker of kidney diseases. [ABSTRACT FROM AUTHOR]

To highlight the Expectations of Medical students after graduating from the Medical College. PLACE AND DURATION: Islamic international Medical College Pakistan from 1st December 2014 to 31st December 2016. METHODOLOGY: The study done at Islamic international medical college included twelve hundred graduates who graduated during 2014-2016 from different private medical colleges of Rawalpindi and Islamabad. Information on expectations from medical profession, seniors and parents was obtained. Data analysis was done using SPSS version 22 and percentages were calculated. RESULTS: 55%of the students assumed that respect was given to them as doctors, 10% felt that their salary is adequate.40% agreed that the seniors guided them in performing skills and they were provided with opportunities to perform procedures, 25% shared that they were not mentored by the seniors during their house jobs. Parents were up to the expectations of all the new graduate doctors. CONCLUSION: Young medical graduates have lots of expectations from their professional lives and the people related to their profession. It would be an ideal situation if the seniors can play the role of mentors and guide these young doctors through the realities of life but Parents support and fulfil all the expectations of medical graduates but expectations from the profession and seniors are partially fulfilled on exit from medical college. [ABSTRACT FROM AUTHOR]

Objective: To compare the levels of vitamin D in children with early childhood caries and children with healthy sound dentition. Study Design: Cross sectional study. Place and Duration of study: The study was conducted at Islamic International Medical College from September 2015 to March 2016. Material and Methods: Eighty children, between 2-8 years of age, were recruited after fulfilling a questionnaire from their parents or caregiver. The sample population was divided into two groups. Group 1 consisted of children suffering from dental caries and was comprised of 60 patients. Group 2 consisted of children with sound healthy teeth and was comprised of 20 children. Questions assessing ch s socioeconomic background, dietary habits particularly frequency of sweet and milk intake, outdoor activity and dental hygiene related behavior were included. The diagnosis of childhood caries was based on oral health diagnostic criteria defined by World Health Organization (WHO). Overall total caries score (decayed missing filled teeth index) was obtained. Levels of 25-hydroxyvitamin D (25(OH) D) was measured from serum samples of the children participating in this study using enzyme linked immunosorbent assay (ELISA). Correlation analysis was done with Pearson correlation and t-test was applied. Results: Results have established association of Vitamin D levels in children with early childhood caries. Pearson correlation and t-test have revealed that total decayed, missing, filled primary teeth (dmft) caries score was also associated with 25(OH) D concentrations less than 30ng/ml, decreased oral hygiene, lower monthly income, increased sugar consumption, decreased milk intake and decrease outdoor activities. This cross-sectional study showed that carries and lower serum vitamin D are closely related with each other. Conclusion: Data from this cross-sectional study showed that dental caries and lower serum vitamin D were closely related. Improving children's vitamin D status may be an additional preventive consideration to lower the risk for caries. [ABSTRACT FROM AUTHOR]

Sheesha smoking habit is found to be most prevalent in the 16-25 years age group with 70% sheesha smokers being male and 30% females. Alarming consequence is that either the customers or the people who serve it put addictive substances into it. The present study aims to assess the growing habits of sheesha smoking in Pakistani female students. Questionnaire was distributed among the girl students. Female students from different colleges/universities of Rawalpindi and Islamabad were included in the study. Statistics show that students offer each other the option to smoke sheesha, i.e., 51.6%. In this study's setting, 61.1% started sheesha smoking during their college life, and is considered fashionable by 68.1% and 54.9% are not aware of its harmful effects. Not much difference was seen between the parents about the awareness of their children sheesha smoking habit, i.e., 48.9% and 50.5%. 35.2% thought of it as losing weight tool and 22% to relieve depression. A large majority agreed that government should check this habit (78%). Government should get more actively involved against sheesha bars and to check for the banned substances. Study needs to be expanded to smaller cities. [ABSTRACT FROM AUTHOR]

Objectives: To compare the improvement in renal function tests (RFTs) of type 2 diabetic patients who were taking glimeperide alone and this drug in combination with piogliatzone and pioglitazone alone. Data source: Data was analyzed using ANOVA. P < 0.05 was taken as significant. Study Design: Randomized prospective study. Setting: This study was conducted in the diabetic clinic of Fauji Foundation hospital Rawalpindi and the tests were analyzed in the Biochemistry Lab of Islamic International Medical College Rawalpindi. Duration of study: 12 weeks. Materials & Methods: Blood glucose levels were determined by glucose oxidase method (globe marketing GD Italy), HbA1c by Microlab 200, urea/creatinine /uric acid by Selectra E & micro albumin by Spin colour. Results: No significant differences were observed for the variables of hemoglobin A1c, uric acid and urinary albumin P >0.05. Significant decreases were observed in the levels of fasting plasma glucose, urea and creatinine P< 0.05. Conclusions: In patients with type 2 diabetes pioglitazone and the combinations of glimepiride with pioglitazone produced significant improvements in measures of glycemic control and RFTs. [ABSTRACT FROM AUTHOR]

The objective of study was to measure iron levels in patients of recurrent aphthous stomatitis and compare them with control.It was a case control study conducted in biochemistry department of Islamic International Medical College Rawalpindi from 15th March 2016 to 14 March 2017.The study includ- ed 140 subjects divided into two groups recurrent aphthous group and control. Recurrent aphthous group comprised of 70 patients with active lesion and 70 age and sex matched healthy controls were included in the control group. Recurrent aphthous stomatitis was diagnosed on the basis of history and clinical examination. Serum ferritin levels were measured by ELISA using Absorbance Microplate Reader, ELX 800, BioTek Instrument Inc. USA while serum iron and hemoglobin levels were measured by microlab 300.Based upon normal laboratory values, the iron levels were significantly low in RAS patients as compared to control.It was concluded that iron deficiency is related to recurrent aphthous stomatitis. [ABSTRACT FROM AUTHOR]

Objectives: To find the association between interleukin-1 receptor-associated kinase 1 rs3027898 gene polymorphism and preeclampsia., Methods: The case-control study was conducted from October, 2018 to September, 2019 at the Railway General Hospital and the Department of Biochemistry, Islamic International Medical College, Rawalpindi, Pakistan, and comprised patients diagnosed with preeclampsia and healthy controls. The interleukin receptor-associated kinase-1 polymorphism was determined using multiplex tetra primer amplification refractory mutation system polymerase chain reaction. Outcomes were determined in terms of association of interleukin receptor-associated kinase-1 with preeclampsia. Data was analysed using SPSS 22., Results: Of the 160 subjects, 80(50% were cases with a mean age of 30±5.3 years and 80(50%) were controls with a mean age of 27±3.7 years. AC genotype was seen in 45(56.25%) cases and 30(37.5%) controls, AA genotype in 25(31.25%) cases and 30(37.5%) controls, while CC genotype was seen in 10(12.5%) cases and 20(25%) controls (p>0.05)., Conclusions: There was no significant association of interleukin receptor-associated kinase-1 genotypes with preeclampsia.

Objective: To assess the association of miR-146a and its target protein RhoA expression levels in breast cancer., Methods: The case-control study was conducted at Riphah International University, Islamabad, Pakistan, from March 2017 to November 2018, and comprised confirmed breast cancer cases and controls who were matched for age and ethnicity. Genotyping and expression profiling of archived samples was performed. Data was analysed using SPSS 22., Results: Of the 590 subjects, 295(50%) each were cases and controls. Among the cases, there were 195(66%) Punjabis, 59(20%) Pathans and 41(14%) Kashmiris. The corresponding numbers among the controls were 198(67%), 58(19.7%) and 39(13.2%). The association between genotypes of the cases and controls was significant (p<0.05). Strong association was seen in dominant, recessive and allelic models (p=0.05). In Punjabi group the association was (p<0.00) significant, but this association was not significant in Kashmiri and Pathan groups (p>0.05). No association was found with the receptor status and miR-146a polymorphism., Conclusions: The miR-146a gene polymorphism rs2910164 G/C was found to have increased susceptibility to breast cancer at genotype and allelic levels.

Objective: To assess the frequency and association of Glutathione S-Transferase Theta 1 and Glutathione S-Transferase Mu 1 null genotypes in development of actinic keratosis (AK) in a group of Pakistani population., Study Design: Case-control analytical study., Place and Duration of Study: Department of Biochemistry, Islamic International Medical College, Rawalpindi in collaboration with Department of Dermatology, Railway Hospital and Rural Health Center, District Health Office, Rawalpindi from September 2018 to September 2019.  Methodology: A total of 86 participants were included in this study with 27 biopsy proven cases of AK and 59 matched controls. Blood samples were collected after obtaining written informed consent; and DNA was extracted by Chelex™ method. Multiplex PCR (M-PCR) was done to find respective allelic frequencies of GSTM1 and GSTT1 genes in both cases and controls.  Results: Mean age of participants in cases and controls was 62.93 ±10.29 years and was 61.42 ±9.96 years, respectively. There were 18 males (66.7%) and 9 females (33.3%); and 43 males (72.9%) and 16 females (27.1%) in cases and controls, respectively. There was a significant association of GSTT1 null genotype with AK (OR: 2.72, 95% CI: 1.05-7.05, p = 0.037). There was a positive correlation between GSTT1 null genotype and AK (r = 0.225, p = 0.037)., Conclusion: GSTT1 null genotype has a significant association for AK development in the studied Pakistani population. Key Words: Actinic keratosis, Glutathione S-Transferase Mu 1, Glutathione S-Transferase Theta 1, Polymerase chain reaction, Squamous cell carcinoma.

Objective: To determine the association of single nucleotide polymorphism in three CC, TT and TC genotypes of transforming growth factor β1 T29C in breast cancer patients., Methods: The case-control study was conducted from April 2017 to April 2018 at the Islamic International Medical College, Rawalpindi, Pakistan, in collaboration with Nuclear Oncology Medicine and Radiotherapy Institute and Holy Family Hospital, Rawalpindi. Using convenience sampling, breast cancer cases and healthy controls were enrolled. All investigations were done using standardized laboratory protocols. The outcomes were determined in terms of association of single nucleotide polymorphism of transforming growth factor β1with breast cancer. Data was analysed using SPSS 21., Results: Of the 150 subjects, 80(53.3%) were cases and 70(47.7%) were healthy controls. Among the cases, the most frequent genotype was CC 38(47.5%) followed by TC 26(32.5%) and TT 16(20%). Among the controls, the corrsesponding values were 50(71.42%), 13(18.5%) and 7(10%). Transforming growth factor β1 TC genotype was strongly associated with the increased risk of developing breast cancer (odds ratio: 3.79)., Conclusions: The incidence of breast cancer was markedly lower among women with CC genotype compared to those with CT or TT genotypes.

Objective: To compare serum levels of asymmetric dimethylarginine between premenopausal and postmenopausal women, and to evaluate its relationship with time since onset of menopause., Methods: The cross-sectional comparative study was conducted at Islamic International Medical College, Rawalpindi, Pakistan, from April 2017 to March 2018, and comprised individuals recruited from the Gynaecology and Obstetrics outpatient department of the Pakistan Railway Hospital in the city. The subjects were divided into two groups; pre-menopausal women in Group I and postmenopausal in Group II. Group II was subdivided into three categories according to time since onset of menopause. Serum asymmetric dimethylarginine levels were estimated in each subject. Data was analysed using SPSS 21., Results: Of the 80 subjects, there were 40(50%) in Group I with a mean age of 36.25}6.8 years, 40(50%) in Group II with a mean age of49.83}4.35 years. There was a significant increase in mean asymmetric dimethylarginine levels in Group II compared to Group I (p<0.05). There was also a significant increase in asymmetric dimethylarginine levels with increase in duration since the onset of menopause (p<0.001)., Conclusions: Levels of asymmetric dimethylarginine increased significantly after menopause.

Objective: To assess the levels of zinc in serum and changes in the lens of diabetic and senile cataract patients, Methods: A comparative cross sectional study was done at LRBT (Layton Rehmatullah Benevolent Trust) free eye hospital Mandra from July 2010 to August 2010. Twenty Type 2 diabetic patients with cataracts and 20 patients without diabetes of senile cataract were included in the study. Glucose levels were determined by glucose oxidase method and zinc levels measured by colorimeteric method (RANDOX)., Results: The statistical analysis showed a statistically significant decrease in zinc levels in diabetic patients with cataract when compared to individuals with senile cataract (P <0.05). In senile lenses multilayering of cells, wrinkling of the lens capsule, and apoptotic cell death were seen, but in diabetic lenses number of cells decreased and cells were smaller as compared to senile lenses. The results were not statistically significant P >0.05., Conclusion: Our findings in this study show a relationship between zinc deficiency and increased occurrence of cataract among people with diabetes.

Cigarette smoking is a major risk factor for atherosclerosis and cardiovascular disease. Active and passive cigarette smoke exposure predisposes to cardiovascular events. Pregnancy associated plasma protein-A is a metalloproteinase of the metzincin super family. It cleaves specific insulin like growth factor binding proteins thereby regulating local insulin like growth factor bioavailability which is a mediator of atherosclerosis. In this study we wanted to establish if Pregnancy associated plasma protein-A levels are increased in normal rats and if the Lipid profile was affected, if exposed to passive smoking. Sixty albino rats of Sprague-Dawley strain were used, weighing 200-250 gm. Both the groups were kept in identical chambers. One group of 30 rats was further exposed to cigarette smoke. Blood triglycerides were determined by enzymatic colorimetric method. In this animal study it was seen that smoking had no effect on (triglycesides), cholesterol, LDL and HDL levels. Smoke exposure has no effect on pregnancy associated plasma protein-A (PAPP-A) levels.