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Genetic variations in a disintegrin and metalloprotease 12 (ADAM12) gene may contribute to develop Osteoarthritis (OA) that is characterized by cartilage matrix degradation and osteophytes formation. Therefore, the aim of present study was to analyze the association between the ADAM12 gene variants and knee OA predisposition. Tetra-primers ARMS-PCR was employed, to genotype the ADAM12 gene polymorphisms (rs1044122 and rs1871054) in 400 knee OA patients and equal number of age-matched controls. The association between ADAM12 gene variants and OA susceptibility was estimated using the Chi-square, logistic regression, haplotypes and linkage analyses. A significant association of rs1044122 (genotype: χ

Background Rheumatoid arthritis (RA) is second leading arthritis worldwide which is characterized by severe joint inflammation. There are several environmental and genetic factors that can influence its pathogenesis. Omentin-1, produced by omental adipose tissues has anti-inflammatory property. The study is designed to evaluate the association between Omentin-1 serum levels and single nucleotide polymorphisms (rs2274907 and rs2274908) with susceptibility to Rheumatoid arthritis (RA). Methods and Results The study involved 792 participants, 396 RA patients and 396 healthy controls. It was found from ELISA that serum Omentin-1 levels were significantly different between cases and controls (p 2 = 72.6, p p p p Omentin-1 polymorphism (A/T rs2274907) may act as possible molecular and genetic targets for early diagnosis of RA and help to develop better therapeutic protocols.

Antibiotic resistance poses a serious threat to human and animal health. As a consequence, their use in conventional poultry feed may be replaced by non-antibiotic additives (alternatives to antibiotics, ATAs). Phytogenic feed additives and organic acids have been gaining considerable attention that could abate the proliferation of pathogenic bacteria and strengthen gut function in broiler chickens. The aim of this study was to evaluate the effects of phytogenic feed additives and organic acids on cecal microbial diversity using 16S rRNA amplicon sequencing of the V3-V4 region. In this study, 240 chicks were divided into five treatments comprising: a controlled basal diet (CON), antibiotic group (AB), phytogenic feed additives (PHY), organic acids (ORG) and a combination of PHY + ORG (COM). A distinctive microbial community structure was observed amongst different treatments with an increased microbial diversity in AB, ORG and COM (p ). The synergistic effects of PHY and ORG increased the population of beneficial bacteria that belonged to the phyla: Firmicutes, Bacteroides and Proteobacteria in the cecum. The presence of the species Akkermansia muciniphila (involved in mucin degradation) and Bacillus safensis (a probiotic bacterium) were noticed in COM and PHY, respectively. Clustering analysis revealed a higher relative abundance of similar microbial community composition between AB and ORG groups. In conclusion, treatments with PHY and ORG modified the relative abundance and presence/absence of specific microbiota in the chicken cecum. Hence, cecal microbiota modulation through diet is a promising strategy to reduce cross-contamination of zoonotic poultry pathogens.

Esophageal and lung Squamous Cell Carcinoma (SCC) pose a serious threat to health as they are amongst the most prevalent cancers in Pakistan. Increased metabolic and energy needs within the proliferating cancer cells results in hypoxia, affecting the homeostatic balance within the tumor microenvironment. Under these circumstances, key hypoxia-regulated genes like CA9 have major role in the survival and invasiveness of malignant tumors. This study targeted the single nucleotide polymorphism rs2071676 in CA9 to find its association with the risk of ESCC and LSCC. The non-synonymous function of this polymorphism cause the base pair to change from guanine to adenine that changes the amino acid associated with the signal peptide domain of CAIX protein from valine to methionine. Blood samples and data from 127 cases with ESCC, 73 patients with LSCC and from their age and sex-matched healthy controls were collected. Genomic DNA were extracted through standard phenol-chloroform method. Assessment of targeted polymorphism was performed through tetra-primer Amplified Refractory Mutation System Polymerase Chain Reaction (t-ARMS PCR). Pearson’s chi-square value gave statistically significant association of the SNP with LSCC (χ2 = 47.104) and ESCC (χ2 = 87.804), both with p

In an epoch of escalating number of antibiotic-resistance bacteria, there is a dire need to develop efficient and novel feeding strategies for animal nutrition as alternatives to antibiotics. Here, implicating nutrigenomic approach, phytobiotics and organic acids were used to evaluate ghrelin gene expression levels, gut microflora composition, performance parameters and intestinal histomorphological changes in broiler chickens. One-day-old chicks (n = 315) were reared for 42 days and distributed randomly into five experimental groups; each with three replicates (21 birds per replicate). Experimental groups were control: basal diet only, antimicrobial growth promoter: 40 g/metric ton of basal diet (virginiamycin), organic acids: 4 kg/metric ton of basal diet, phytobiotics: 3 kg/metric ton of basal diet, combination: 7 kg/metric ton of basal diet (organic acids 4 kg and phytobiotics 3 kg metric ton of feed). Growth performance, histological and ghrelin gene expression analysis were executed on 21 and 42 days while, quantitative bacterial analysis of cecum and ileum was performed on day 42. Increased feed intake and body weight (p

Pyrethroid (PYR) is a class of pesticide which was frequently applied in agricultural fields of Sanghar in Pakistan. Consistent and over use of PYR may lead to health effects on workers who are occupationally exposed to pesticides every day. For assessment of PYR toxicity, Cytochrome-P450 (CYP1A1) and Glutathione–S-transferase P1 (GSTP1) code for xenobiotic metabolizing enzymes (XME) were investigated in Sanghar exposed studied population. To execute the case-control study, a total of 200 blood samples from PYR-exposed and control subjects were collected. Prior informed consent was taken from all the subjects. For determination of genetic variations, CYP1A1 (rs1048943) and GSTP1 (rs1695) regions were amplified using polymerase chain reaction (PCR), followed by restriction fragment length polymorphism (RFLP). Resolved bands were visualized on 2 % agarose gel. Results indicated that in CYP1A1 polymorphism (rs1048943) there was no significant association between CYP1A1 genotypes AA, AG, GG and PYR toxicity (ϰ2= 2.03, p > 0.05) in exposed subjects. However, the impact of mutant allele G was further evaluated by genetic models, which demonstrated that G allele may show a risk for CYP1A1gene susceptibility to PYR exposure (OR: 8.608; CI: 1.056–70.172) p

The development of cardiovascular diseases (CVD) is influenced throughmultiple risk factor and hypertension. Itmayincrease the risk of cardiac events, and has a significant impact when combined with other risk factors including low levels of vitamin D and genetic variations like single nucleotide variations(SNV) (TaqIrs731236) in vitamin D receptor (VDR) gene. Blood samples from 500 study participants gathered including 250 hypertensive coronary heart disease patients, 250 age and gender matched healthy controls. To isolate genomic DNA, conventional salting out procedure used followed by amplification of targeted variations through Amplification Refractory Mutation System- Polymerase Chain Reaction (ARMS-PCR) Assay. The ampliconconsist of 148 base pairs whichwas visualized on 2% agarose gel electrophoresis and confirmed by DNA sequencing.The compared clinical parameters including systolic blood pressure (SBP),diastolic blood pressure (DBP), body mass index (BMI), high density lipoproteins (HDL), low density lipoproteins (LDL), cholesterol, triglycerides found significantly different among patients when compared with controls (P0.001). The Vitamin Dexhibited insufficient levels at different stages of hypertension which were statistically, found significantly associatedamong patients with hypertensive coronary heart disease showing compared to controls (P0.001). The genotype association SNV (TaqIrs731236) TC showed significant association with hypertensivecoronary heart disease compared to healthy controls (Chi-Square χ2= 60.75 and P0.00001). Further, the odds ratio of allelic association for risk allele (C) showed the strength of association with risk of disease, which increases by 2.02 times(P=0.01). The results suggest that (TaqIrs731236) TC as genetic predisposition factor, may contribute to develop the risk of hypertensive coronary heart disease.Hypertension as a risk factor along with insufficient levels of vitamin D and SNV(TaqIrs731236) as genetic variationsmay have been an important contributor to disease risk of hypertensive coronary heart disease.

Epilepsy is one of the most common neurological disorders with the incidence rate higher in developing states. It is a multifactorial ailment in which genetic diversity along with other factors plays an important role. The objective of this study was to assess the involvement of different risk factors including single nucleotide polymorphisms (SNPs) present in GABRA1 (rs2279020) and GABRG2 (rs211037) genes with the susceptibility to epilepsy in the targeted population. Blood samples of 180 subjects were taken and genotyped through tetra-primer amplification refractory mutation system-polymerase chain reaction technique. The obtained demographic and genotypic data were analyzed through different statistical tools including χ

BACKGROUND Coronary artery disease (CAD) is a leading cause of mortality in Pakistan and also worldwide. Vitamin D receptor (VDR) regulates the transcription of many genes and has a significant impact on inflammation and the morphology of cardiac cells. Genetic variation in the VDR gene such as the TaqI polymorphism (rs731236) may have an impact that causes adverse effects. Accordingly, it is important to determine possible association of the TaqI polymorphism (rs731236) with CAD. METHODS The study included blood samples from 1016 subjects: 516 from CAD patients and 500 from age- and gender-matched controls. Genomic DNA was extracted by standard salting out method. Targeted variation was amplified by an allele-specific polymerase chain reaction (PCR). PCR products were examined and genotyped on agarose gel electrophoresis represented by an amplified product size of 148 bp followed by Sanger sequencing to validate variations. RESULTS Serum vitamin levels, as observed using enzyme-linked immunosorbent assay, were found to be insufficient in both CAD patients (20.52 ± 0.06 ng/ml) and controls (21.6981 ± 0.05 ng/ml). The TaqI polymorphism (rs731236) T>C was found to be significantly associated with CAD (p

Taxonomic characterization of bacterial 16S rRNA gene has become an accepted norm for inference of complex microbial communities and ecological shifts in gut. Recently, 16S rRNA gene sequences has emerged as a taxonomic marker to investigate crosstalk between gut bacteria and host via variations in feed. Here, broiler chickens (n = 240) were subjected to dietary modulation approach to substitute antibiotics with natural plant-derived products. Five experimental groups were control, antibiotic growth promoter, organic acids, phytogenic feed additives and combination (organic acids + phytogenic feed additives). Bacterial DNA was extracted and 16S rRNA gene was amplified through polymerase chain reaction using universal primers followed by observation through gel electrophoresis and then, confirmation by direct DNA sequencing. The sequence data was analyzed for homology search, multiple sequence alignment, and construction of phylogenetic clades using software BLASTn, CLUSTAL W and MEGA 7.0. respectively. Based on the phenetic relationship, bacterial phylotypes from organic acid and phytogenic feed additive groups belongs to Enterococcus faecium and Enterococcus faecalis in both cecum and ileum. The bacterial isolate obtained from antibiotic feeding group characterized as Escherichia coli. Furthermore, sequences of probiotic bacteria (Enterococcus faecalis) were retrieved from online repositories (GenBank and RDP) and aligned with indigenously isolated strains of this study. Comparative phylogenetic analysis revealed high sequence similarities (99%) of Enterococcus faecalis KIBGE AB-6 and Enterococcus faecalis KIBGE AB5 with Enterococcus faecalis ATCC 19433, and Enterococcus faecalis DD28 respectively. Hence, under the appropriate conditions of current investigation, these bacterial strains might serve as potential candidates for probiotics in animals. To the best of our knowledge, this is the first study in Pakistan depicting taxonomic classification of chicken gut bacterial diversity from cecal and ileal samples linked with dietary modulation. Keywords: 16S rRNA gene, Broiler chicken, Gut microbiota, Probiotic bacteria, Taxonomy

The study was designed to investigate the association between obesity and the risk of knee osteoarthritis, recruiting 400 knee osteoarthritis patients and an equal number of controls. After the informed consent, diagnosed patients from Jinnah Post Graduate Medical Centre, Karachi were included as "cases". Age-matched individuals without the disease were included as "controls". Sociodemographic data were taken from each participant. Characteristics were compared by odds ratio and chi-square using SPSS 20 software. Obesity (OR 3.29; 95% CI 2.40-4.51), female gender (OR 2.87; 95% CI 1.94-4.25) and family history (OR 3.61; 95% CI 2.69-4.85) were found to be significantly associated with osteoarthritis (p0.001). Highest OR was found in case of stair climbing10 flights/d (OR 6.08; 95% CI 4.16-8.89; p0.001), whereas heavy lifting (25 kg/d for4 hr) was observed as another major factor with OR of 5.24 (95% CI 3.54-7.75; p0.001) that elevates the risk. The study concluded that obesity is significantly associated with osteoarthritis and obese individuals (BMI25 kg/m2) are at high risk of disease development. Furthermore, family history, prolonged standing (2 h/d for1 yr), heavy lifting (25 kg/d for4 hr), stair climbing (10 flights/d) and sitting on the floor (5 h/d) might also be associated with knee osteoarthritis.

This study explored the effects of natural growth promoters (phytogenic feed additives and organic acids) on animal performance, carcass characteristics, blood parameters, gut microflora composition, and microbe–host interactions in broiler chickens over a 42-day feeding period. Two-hundred-fifty-day-old chicks were randomly assigned to one of five treatments: (i) control diets (CON); (ii) control diets + 40 g/tons antibiotic growth promoter (AB); (iii) control diets + 3 kg/tons organic acids (ORG); (iv) control diets + 3 kg/tons phytogenic feed additives (PHY); (v) control diets + 3 kg/tons organic acids + phytogenic feed additive combination (COM). A non-significant differences (p > 0.05) were observed in broiler performance among treatments at 21 days of age; however, a gradually increasing body weight gain and reduced feed conversion ratio were observed at 42 days in treatments versus control group. Biochemical indices were non-significant (p > 0.05) except for decreased cholesterol (p

This study was conducted to find the association between leptin and adiposity indices. Secondly, to identify optimal threshold of various anthropometric indices for obesity, as assessed by 75th percentile of leptin levels, within a clinic sample of non-diabetic and diabetic Pakistani adults. Fasting serum leptin levels were compared with anthropometric markers of obesity in 164 diabetic and non-diabetic subjects (90 male, 74 female), aged 35 to 65 years. Obesity was defined by body mass index (BMI) of 25 kg/m2 in either sex. The cutoff point of leptin was taken as the 75th percentile in non-obese subjects. Diagnostic accuracy for detecting excess fatness was evaluated through receiver operating characteristics (ROC) analyses with leptin taken as reference test against anthropometric indices as test variables. The 75th percentile of leptin in male and female was 7.0ng/mL and 17.9ng/mL, respectively. Leptin levels were significantly higher in females (p0.001) and had strong positive correlation (p0.001) with most anthropometric indices of obesity in both sexes; hip circumference (HC) being most prominent among these. Largest area under ROC curve (AUC) was between WC and leptin (AUC=0.844; CI=0.764, 0.925) in males and BMI and leptin (AUC=0.832; CI=0.740, 0.923) in females. The optimum thresholds for obesity indices in our study were: BMI, WC and HC as 25 kg/m2, 96.25cm, 99.25cm for males; 27 kg/m

A cross - sectional study was designed to investigate the frequency of PMS, on 520 subjects selected from University of Karachi (mean age 20±1.94). The PMS and menstrual cycle data of individuals were collected from prism calendar and symptom - thermal chart for three consecutive cycles. Based on the observations, all subject s were grouped as control (208) and PMS patients ( 3 12). The frequency (60%) with symptoms include irritability (71.05%), fatigue (86.84%), and bowel constipation (36.76%) and loose bowel (17.65%), appetite up (42.65%), and appetite down (51.47%). Breast ten derness (67.65%), abdominal blotting (47.06%), aggressiveness (29.41%), depression (13.24%), and insomnia (14.71%), labile mood (5.88%), and anger (7.35%). Elevated irritability and breast tenderness were observed in age group (19 - 24 years) i.e. 92% and 82 % respectively with p

Background & objectives Triple negative and triple positive breast cancer have adverse effects than other types of breast cancer. However, triple negative has poor prognosis with short survival as compared with triple positive breast cancer. Good prognosis is one of the key factors for successful treatment trial. This study aimed to find out the association of sociodemographic and reproductive features like parity, menopause, number of child bearing as risk factors in the development and prognosis of triple negative and triple positive breast cancer. Methods This study is a part of an ongoing project which is being conducted in Karachi from 2013 to 2020. Informed consent from triple negative breast cancer (n=134) and triple positive breast cancer (n=87) patients were taken prior to their recruitment into the study. Demographic, anthropometric, reproductive and disease history of patients were recorded. Means, frequency distribution, data classification and association analyses were done by SPSS version 17.0. Results Statistical analyses revealed that delayed first child bearing age and lower number of children are associated with the development of triple negative breast cancer. However, no significant effect of these parameters has been observed on the outcomes of triple positive breast cancer. Conclusions Reproductive factors have more pathological implications than sociodemographic factors in both triple positive and triple negative breast cancer development. These findings might prove to be beneficial for effective and better breast cancer management.

Chemokine CC receptor type 5 (CCR5) is a cell surface receptor that has high affinity for chemotropic cytokines called chemokines. The CCR5 gene contains a 32 base pairs (bp) deletion (CCR5Δ32). This deletion may result in a malformed and nonfunctional receptor, reported to be responsible for the development and dissemination of different cancers. CCR5Δ32 exists in two allelic forms i.e. deletion (D) and wild type (WT). This study aims to detect the role of CCR5Δ32 in breast cancer development. Blood samples were collected from breast cancer patients (330) and controls of same gender (306). Along with this histopathologically diagnosed malignant tissue samples were also excised from breast lesions of 100 patients. Genetic variations within the blood and tissue samples were examined by PCR then observed through gel electrophoresis and confirmed by direct DNA sequencing. Obtained DNA sequences were aligned and analyzed by MEGA6 software. Genotypic and association analyses were done by SPSS software version 17.0. Deletion of 32 bp in CCR5 gene has been analyzed. Genotypic variations of CCR5Δ32 are; homozygous wild type (WT/WT), heterozygous deletion (WT/D) and homozygous deletion (D/D). Statistical analyses of CCR5Δ32 data revealed that WT/D was significantly higher in blood samples of breast cancer patients (7.27% (24/330)) as compare to controls (1.30% (4/306)). In tumor tissue samples WT/WT being the most frequent genotype (99.00% (99/100)) with 1.00 (1/100) of D/D which suggested that it may be acquired. Hence, association analysis showed that CCR5Δ32 is positively associated with breast cancer in Pakistan (p

Objective: The myokine interleukin-15 (IL-15) is capable of modifying the metabolism of both skeletal and adipose tissue. This study compares the change in serum levels of IL-15 in obese and non-obese after a single session of submaximal exercise. Methods: A cross-sectional study was carried out at Jinnah Medical and Dental College, Karachi, during Aug-Dec 2015, comprising of 133 medical students (aged 17-24 years). Cardiorespiratory fitness was evaluated by Queen’s College Step Test. Blood was obtained both before and just after exercise and serum levels of IL-15 determined by enzyme-linked immunosorbent assay. Results: Mean serum level of IL-15 was 3.64±1.59 pg/mL. Higher levels of IL-15 were seen in lean subjects compared to overweight/obese, both before and after three minutes of exercise (all Ptrend

Objective Biotransformation of xenobiotics are critical for their metabolism and removal from the body which is carried out by xenobiotic metabolizing enzymes. Individuals carrying variants of genes that encode these enzymes have an altered ability to metabolize xenobiotics which may lead to an increased risk of acute lymphoblastic leukemia. The current study aimed to investigate the impact of GSTM1 and GSTT1 gene deletions in causing predisposition to adult ALL. Methods The current case-control study involved 62 adult ALL patients and 62 age and gender matched healthy controls. Whole blood samples processed with standard phenol chloroform protocol for DNA isolation were genotyped using multiplex PCR approach for simultaneous identification of GSTM1 and GSTT1 deletions. The genotype frequency obtained for patients was compared to controls using odds ratio and chi-square. Results The null genotype frequency of GSTM1 and GSTT1 in a group of adult ALL patients from Pakistan were 47% and 11% respectively. Deletion of GSTM1 and GSTT1 did not show statistically significant association with adult ALL (p=0.86 and p=0.35 respectively). The combined GSTM1/GSTT1 deletion was observed in 2% patients and was not significantly associated with ALL in adults (p=0.85). Conclusions The results reveal that homozygous null polymorphism of GSTM1 and GSTT1genes does not influence ALL susceptibility among adult patients. Cancer susceptibility associated with GST polymorphism varies with ethnic and geographic differences. Therefore, further investigation on different populations is needed to understand the role of these genetic variations in modifying adult ALL risk.

Purpose: To investigate the efficacy of promising alternatives to antibiotic growth promoters (organic acids, phytobiotics, and their combinations) as feed additives in poultry feed.Methods: Different feed treatments were formulated with organic acids, phytobiotics and their combinations, and their effects on blood profile, serum enzymes and immunity parameters were evaluated in broilers at 21 and 42 days of age.Results: Cholesterol, triglyceride and HDL levels of the 21- and 42-day old broilers were significantly (p < 0.05) affected by the feed additives. The effect of albumin and albumin/globulin ratios varied significantly (p < 0.05) from that of the control group at 42 days of age. Haematological analysis did not show significant changes (p > 0.05) in parameters except hematocrit, RBC, MCH, MCHC, WBC at age 21 days. However, among the serum enzymes assayed, only gamma-glutamyl transferase activity was altered for the modified feed group.Conclusion: These results suggest that supplementation with organic acids and phytobiotics can be used as alternatives to antibiotic growth promoters without interfering with the overall health and performance of broilers.Keywords: Broilers, Antibiotic growth promoters, Phytobiotics, Organic acids, Biochemical parameters

Background & Objective: Catalase (CAT) is an important endogenous antioxidant enzyme that detoxifies H2O2 into water and oxygen, consequently limiting the deleterious effects of reactive oxygen species. It has suggested that CAT-21A/T (rs7943316) OMIM: 115500 gene promoter polymorphism is predominantly associated with different human disorders such as hypertension, cancers, diabetes, nephropathy, and other diseases accompanied by oxidative stress. This study was designed to investigate the prevalence of mutant T allele frequency in healthy individuals. Methods: The study group consisted of 110 healthy individuals were enrolled from Baqai Institute of Diabetology and Endocrinology (BIDE), Karachi, Pakistan, during the period of April 2010 to May 2013. DNA was isolated from leukocytes. Genotyping of CAT-21A/T (rs7943316) gene promoter polymorphism was carried out using thermal cycler followed by RFLP. Blast N analysis was performed for the confirmation of gene sequences. Results: In CAT-21A/T (rs7943316) gene promoter polymorphism, wild type genotype (AA) was observed in 18.26% and alterered genotype (AT/TT) found in 81.74% cases. Conclusions: Data demonstrates that frequency and distribution of mutant T allele was more prevalent as compared to wild type A allele in the study group.

Background & Objective: Coronary artery disease (CAD) is a most important cause of morbidity and mortality worldwide as well as in Pakistan. Recent studies have shown that the combination of obesity, insulin resistance and fluctuation in circulating adipocytokines levels is associated with the pathogenesis of coronary artery disease. Omentin-1 is recently found adipocytokine that is highly expressed in visceral adipose tissue. It has anti- inflammatory properties and is negatively correlated with ischemic heart disease. Therefore, this study was designed to investigate the relationship between omentin-1 Val109Asp polymorphism and CAD in Pakistani population. Methods: A total of 350 subjects were included in the study. Two hundred fifty were diagnosed with coronary artery disease while 100 served as healthy controls. PCR-RFLP was performed at Dr. A Q. Khan Institute of Biotechnology (KIBGE) to analyze Val109Asp polymorphism. In this, case control study SPSS software version 16 (Chicago, IL, USA) was used for data analysis. Continuous variables and categorical variables were presented as mean±SD or in percentage. Independent sample test and chi-square test was performed to compare the differences in means between cases and controls. Genotype distribution was analyzed by chi-square test and results were presented as percentage and frequency. Multivarible regression analysis indicated that Val109Asp SNP might be an independent risk factor for CAD susceptibility after adjustment for some well- known CAD risk factors including age, gender, body mass index, smoking, hypertension, diabetes mellitus and lipid abnormalities. There was estimation of odd ratios (OR) and 95% confidence intervals (CIs) to determine the correlation between genotypes and the risk of CAD. (p> 0.05). Genotype frequencies were compared by Chi-square test. Results: There was prevalence of Omentin-1 Val109Asp polymorphism in both case and control groups. However, Val/Asp (heterozygous mutant) genotype was detected more frequently in patients with CAD, OR(95%)=1.921; CI=1.173-3.1469 in comparison of Asp/Asp and Val/Val genotypes. Conclusion: Individuals having Val/Asp heterozygous gemotype of omentin-1 gene polymorphism are at more risk of developing CAD in Pakistani population, further studies are required in different populations and ethnicities to confirm our findings.

Objective: This study investigated the relationship between cardiorespiratory fitness (CRF) and adiposity in young adults. Methods: Data was collected from 133 students of a medical college of Pakistan. The study was conducted on young adults, aged 17-24 years, recruited from Jinnah Medical & Dental College, Karachi, between Aug-Dec, 2015. Queen’s College Step Test was conducted to measure CRF and maximal oxygen uptake (VO2max) evaluated. Anthropometric measurements (body mass index, body fat, visceral fat, waist circumference) were taken to assess adiposity. Associations of VO2max and adiposity were analyzed. Results: The prevalence of overweight/obesity was 44% overall. The VO2max (ml/kg/min) of males and females was 55.41±9.45 and 39.91±3.14, respectively, the gender difference being highly significant (p

Chromosomal numerical aberration is one of the leading reasons behind spontaneous pregnancy loss. The probability of spontaneous miscarriage increases with advance parental age. After miscarriage patients and their families feel desperate, which consequently create psychological illness. The review evaluates current techniques being used in the diagnosis and focuses toward a recently introduced molecular technique Quantitative Fluorescent-PCR (QF-PCR) which based on the use of fluorescent primers (probes). Several published articles were selected for the review regarding the frequency of spontaneous miscarriages, its reasons, and outcomes. Studies that focus on QF-PCR, karyotyping and their comparison were included. Current situation of management of spontaneous miscarriages was also observed through surveys and consultant views in Karachi. On the basis of the above mentioned piece of information, QF-PCR would be a good addition in the field of prenatal diagnosis. However, karyotyping is also a reliable method of prenatal diagnosis with little limitations.

This paper introduces the speech emotion corpus, a multilingual speech emotion database recorded in the provincial languages of Pakistan: Urdu, Punjabi, Pashto and Sindhi for analyzing the speech emotions present in the recorded speech signals with the four different emotions (Anger, Sadness, Comfort and Happiness). The objective of this paper is to evaluate the performance of the learning classifiers (MLP, Naive Bayes, J48, and SMO) for speech emotion corpus recorded in the provincial languages of Pakistan with different combinations of prosodic features in term of classification accuracy and time taken to build models. The experimental results clearly show that the J48 classifier performs far better than all other classifiers in term of both classification accuracy and model building time. SMO indicates slightly better classification accuracy than Naive Bayes classifiers whereas; Naive Bayes exhibit minimum model building time as compared to MLP.

To explore the usefulness of neck circumference as a supplemental tool for diagnosing metabolic syndrome while identifying its cut-off values.This case-control study was conducted at Dr. Essa's Laboratory and Diagnostic Centre, Karachi, from December 2014 to April 2015, and comprised subjects with and without metabolic syndrome aged between 35 and 65 years regardless of their diabetic status. Evaluation was done for metabolic syndrome by measuring anthropometric, clinical and biochemical parameters according to the criteria proposed by the International Diabetes Federation. Variables in both cases and controls were correlated with neck circumference and its cut-off values were determined for diagnosing metabolic syndrome. SPSS 20 was used for statistical analysis.Of the 215 subjects enrolled, 164(76.28%) were selected. Of them, 83(50.61%) were cases and 81(49.39%) were controls. Moreover, 90(55%) of them were men and 74(45%) were women. The overall mean age was 51.15±10.36 years (range: 35 to 65 years).The mean neck circumference was 36.13±2.14 cm and 31.59±1.18 cm in normal-weight men and women, respectively, compared with 40.0±2.13 cm and 35.75 ± 2.74 cm among obese men and women. The neck circumference correlated best with waist circumference in men (p=0.001) and with body surface area in women (p=0.001). The area under the curve of neck circumference for metabolic syndrome was 0.760 for men (p0.001) and 0.631 for women (p0.05). Optimal neck circumference cut-off points to determine metabolic syndrome were38 cm for men and34 cm for women. The odds ratio for metabolic syndrome was 12.44 (95% confidence interval: 4.13-37.41) among male cases and controls compared to 3.34 (1.26-8.80) among women.Neck circumference strongly correlated with adiposity indices and had a definite cut-off point. It can therefore be used as a useful adjunct for clinical screening of metabolic syndrome.

The identification of chromosomes for routine cytogenetic analysis is based on quality of metaphases and good banding pattern. Fresh slides of human lymphocytes have been shown to produce good bands for the identification of chromosomes morphology. G-bands by Trypsin using Giemsa (GTG) banding of aged slides is generally considered hard to get desired band pattern of chromosomes persistently. The current study is focused on GTG banding of aged slides. A total of 340 subjects including 290 primary infertile and 50 fertile were selected. The blood samples were drawn aseptically for cytogenetic analysis. Lymphocytes were cultured and GTG banding was done on 1440 glass slides. Giemsa trypsin banding of aged slides were done by adjusting average trypsin time for each month according to the slide age and metaphase concentration. Correlation analyses showed a significant and positive correlation between slide ageing and trypsin pre-treatment time. The results of this study suggest that, the fresh and aged human lymphocyte metaphases are equally usable for GTG banding.

Introduction: Congenital heart diseases (CHD) are one of the neglected and challenging areas in undeveloped countries. In Pakistan approximately 40-50,000 children are affected annually. A majority of these patients belongs to rural areas where properly medical facilities are out of reach. In the etiology of these diseases genetic profile, consanguinity and other factors should be examined carefully. The current study aims to check the genetic manipulations in patients for the NKX 2.5 gene specifically the untranslated gene of this gene. NKX 2.5, a transcription factor and first progenitor in cardiac formation, it encodes 324 amino acid and contains a homeodomain (142-200aa) which is highly conserved among vertebrates. To date, no data is available about the mutations in this gene responsible for CHD in Pakistani population. Material and Methods: A cohort of 225, CHD patients who were registered at National Institute of Cardiovascular Diseases (NICVD) from 2006-2009 were included in the study; these are non-syndromic and sporadic cases. Healthy 200 controls were also included with informed consents and detail family history was obtained. DNA was extracted and NKX 2.5 gene was amplified and sequenced to check mutations. Results: The mean age for patients TOF (2.97±1.21), PDA (2.95±2.55), D-TGA (1.84±2.26) and for controls (3.14±1.82) .In present study, two UTR alterations have been reported for NKX 2.5 one at 5' and other at 3'.In our study we look social and genetic aspects for these diseases. Conclusion: CHD is a major cause of child death in the first year of life. Our study concludes a few aspects and will broaden it to other genes as it is a need to find etiology of these diseases and to combat it with the modern genetic therapeutics.