Whole genome sequencing instead of whole exome sequencing is required to identify the genetic causes of polycystic ovary syndrome in Pakistani families

Background and Objective: Polycystic Ovary Syndrome [PCOS] is the major cause of infertility in females. PCOS is a complex and multifactorial disease, genetic and environmental factors being important predisposing factors. Diagnosis of PCOS is difficult due to the complexity of this disease; hence, better diagnostic tests are required to improve its management. Aim of the study was to elucidate the genetic causes of PCOS in three Pakistani families

Methods: Three Pakistani families segregating PCOS in an apparently autosomal recessive mode were recruited. Whole genome Single Nucleotide Polymorphism [SNP] genotyping and Whole Exome Sequencing [WES] were carried out to identify the candidate genes

Results: SNP genotypes data analyses identified multiple regions of homozygosity on different chromosomes. WES was performed in affected members of the family. Screening for pathogenic mutations in homozygous regions failed to detect any mutation/variant of interest

Conclusion: PCOS is multifactorial and complex disease so variants in the coding as well as in non-coding regions may be the genetic causes of the disease. To elucidate the genetic cause[s] of the PCOS, Whole Genome Sequencing [WGS] is recommended to cover both coding and non?coding regions of the genome

Screening of adult dental patients visiting Khyber College of Dentistry, Peshawar for HBV and HCV infections and identifying the associated risk factors

Objective: To screen out adult patients for HBV and HCV infections visiting Khyber College of Dentistry Peshawar [KCD] for different dental treatments and to identify the associated risk factors

Method: This cross-sectional study was conducted at Khyber College of Dentistry, Peshawar in the year 2013. A total of 1540 patients >15 years, visiting KCD for seeking different dental treatments were screened for hepatitis B and C. Informed consent was taken before blood collection and filling of a structured questionnaire. Blood samples were tested against HBsAg and anti HCV by using ICT that were further confirmed by ELISA. The data was analyzed using Epi info version 6

Results: A total of 1540 patients were screened during the study. Among these 36.4% [561] were males and 63.6% [979] were females. Overall prevalence of HBV and HCV was 5.12% [79]. On screening, 2.14% [33] were found to be HBs Ag positive of which 2.5% [14] were males and 1.9% [19] were females. HCV was found positive in 2.98% [46] individuals having male to female ratio of 1.6% and 3.8%. Frequency of HBsAg was high in age group 56-65 year and HCV in 36-45 year group. Previous history of IV/IM injections, spouse patient of hepatitis, blood transfusion, surgical operation were found significant risk factors in the transmission of both hepatitis B and C, while previous history of dental treatment and sharing of clippers were significant risk factor in spreading hepatitis C infection only

Conclusions: Overall prevalence of HCV was higher than HBV. Previous history of injections, spouse patient of hepatitis, blood transfusion, surgical operation were found significant risk factors in the transmission of both hepatitis B and C

Comparison of maternal serum lipoproteins in normal pregnancy and primiparous patients with eclampsia

Objective: To evaluate changes in serum lipoproteins in primiparous women with eclampsia and compare it with pregnant women having normal blood pressure

Methods: This cross sectional study was conducted on 65 primiparous eclamptic patients and 21 normotensive pregnant women in the tertiary care hospitals of Peshawar. History of each woman was recorded on a questionnaire. Blood pressure was measured using standard methods. About 5 ml of venous blood was drawn for the analysis of lipoproteins

The data was analyzed using computer software package SPSS version 10. The P value <0.05 was considered statistically significant

Results: Mean age of hypertensive cases was 23.2 +/- 0.52 years while that for controls was 23.9 +/- 1.16 years. Significant differences were found in serum lipoproteins. Women having eclampsia had 28.8%, 29.5%, 31.1%, 32.9% and 65.3% higher, low density lipoprotein-cholesterol [LDLC], triglycerides [TG], total cholesterol [TC]:high density lipoprotein-cholesterol [HDLC] ratio, LDLCiHDLC ratio and TG:HDLC ratio respectively as compared to the control group. The HDLC concentrations, HDLC:VLDLC ratio and apolipoprotein-A1 level were 26.9%, 56.6% and 27.9% respectively, lower in the patient group as compared to the controls

Conclusion: This study suggests that evaluation of lipoprotein concentrations during antenatal period can be helpful in the early detection and prevention of developing eclampsia

Prevalence of amoebiasis in a model research community and its confirmation using stool antigen elisa for Entamoeba histolytica

Entamoeba histolytica [E. histolytica] produces an invasive disease called amoebiasis, which commonly produces diarrhea with or without blood in both children and adults, leading to high morbidity and mortality. Entamoeba dispar [E. Dispar] is a noninvasive, nonpathogenic organism. Both Entamoeba histolytica and Entamoeba Dispar look alike on microscopy and therefore cannot be differentiated unless checked on ELISA, PCR or other specific method. To calculate the actual prevalence of pathogenic amoebiasis in children by comparing the stool microscopy with ELISA stool antigen i.e. gold standard. Across sectional, comparative study. Children under five years in a community village Budhni, District Peshawar. A sample of 288 children aged <5 years were randomly selected. Information's were collected on the age and gender of the children. Fresh stool specimens were examined microscopically and with stool antigen kit of ELISA for detection of Entamoeba histolytica. The specificity and sensitivity of microscopic method was calculated against ELISA. Data was analyzed using statistical computer software package SPSS version 10.0. A total of 288 stool specimens were collected and examined for Entamoeba histolytica. Out of these 36[12.5%] stools were positive for E. histolyticaon microscopy while 14[4.9%] were positive on ELISA. Out of 14 ELISA positive samples, 10 samples were also positive on microscopy while 4 were ELISA positive but microscopy negative. About 22 samples, which were positive on microscopy were negative on ELISA indicating that these samples might have been of E. Dispar which is nonpathogenic protozoa. The sensitivity and specificity of microscopic method was 71.4% and 90.5% respectively, as against stool antigen test. Actual prevalence of Entamoeba histolytica is low in the area. Stool ELISA was able to differentiate between pathogenic Entamoeba histolytica and the non-pathogenic Entamoeba dispar and thus can minimize unnecessary antiamoebic treatment in these children

Adipokine Serum visfatin level in pregnancy induced hypertension and uncomplicated pregnancy

Background and Objectives: Hypertensive disorder in pregnancy is the significant disease that badly affects the maternal and fetal prognosis and lead to higher mortality and morbidity in the prenatal period. Visfatin, potentially a new adipokine has emerged having high contribution in pathogenesis of preeclampsia. The objective of the study was to find the level of Visfatin in pregnancy induced hypertension and normal pregnant women

Methods: This study was carried out in tertiary care hospitals, Peshawar from March-October 2014. A total of 234 pregnant women [gestational age >20 weeks] were included in the study with distribution as Preeclampsia [PE=86], Eclampsia [E=74] and control [N=74]. Blood was taken for measuring Visfatin level by Enzyme Linked Immunosorbent Assay [ELISA] technique. SPSS version 19 was used for statistical analysis. Student's t test was performed to evaluate the mean differences in patients and control

Results: Serum level of visfatin was significantly higher in pregnancy induced hypertension when compared with control [P value <0.001]. Comparisons of mean value of visfatin with age group of 21-40 years, body mass index [BMI], primary parous and parity 2-4, gestational age of >36 weeks and both systolic and diastolic blood pressure were highly significant in pregnancy induced hypertension when compared with control [p value <0.001]

Conclusion: Pregnancy induced hypertensive women showed increased level of serum Visfatin than normal pregnant women

Frequency of ABO blood groups and RhD factor in the female population of district Peshawar

To determine the frequency of ABO blood group and Rhesus [Rh] D antigen in the females of "District" Peshawar, Khyber Pakhtunkhwa Province, Pakistan. This cross-sectional study was conducted on 429 women having pregnancy induced hypertension, admitted in the three teaching hospitals of Peshawar, over a period of one year. Blood sample was collected from each subject after taking informed consent. The antigen antibody agglutination slide test for "blood grouping [ABO]" and RhD factors was done by using IgM and IgG monoclonal reagents. The antisera used were from Biolaboratory, USA. Data was analyzed for percentage calculation. The blood group distribution was 134 [31.2%], 43 [10.1%], 116 [27%], 136 [31.7%] for blood groups A, AB, O and B, respectively. Subjects having blood group B was slightly more dominant, followed by A and O, while blood group AB was rare in these females. Blood group A Rh negative is more in female 12 [37.5%] followed by group O 10 [31.3%], group B 09 [28.1%] and group AB 01 [3.1%].Frequency of "Rh-positive blood group" is B, A, O and AB, whereas the frequency of the most common Rh-negative blood group are A, O, B and AB respectively. The determination of the frequency of blood groups in the region would not only help in blood transfusion services, but also reduce the risk of erythroblastosis foetalis in the neonates

Prevalence of zinc deficiency among rural women during childbearing age in Peshawar, Pakistan

Zinc deficiency is a commonly reported health problem throughout the world. This cross sectional survey was conducted in rural Peshawar with an aim to estimate the prevalence of zinc deficiency in women of child bearing age and find its association with age, marital, pregnancy status and parity. Data was collected from 353 women age 15-45 years. EPI INFO version 6.04 was used for data analysis. Overall 98 [27.8%] women were zinc deficient [

Depression among patients with type-II diabetes mellitus

This study aimed to determine the frequency of depression among patients with type-II diabetes mellitus in Peshawar at Khyber Teaching Hospital, Peshawar, from March to September 2010. Depression was assessed by using Beck Depressive Inventory-II [BDI-II]. Out of 140 patients with type-II diabetes, 85 [61%] were women and 55 [39%] were men. Mean age was 45 +/- 7.45 years. Eighty four [60%] patients presented with severe depression. Depression was higher in females than males and widows. Depression was high in diabetic patients, especially in females and widows. It is of essence that psychiatric attention may be necessary to be incorporated in diabetes care both for prevention and treatment

Abnormal Lipid levels as a risk factor of eclampsia, study conducted in tertiary care Hospitals of Khyber Pakhtunkhwa Province - Pakistan

To evaluate abnormal lipid metabolism as a risk factor of eclampsia in pregnant women. This cross sectional study was conducted in three tertiary care hospitals of Peshawar. Serum total cholesterol [TC], high density lipoprotein cholesterol [HDL-C], low density lipoprotein cholesterol [LDL-C], very low density lipoprotein cholesterol [VLDL-C], triglyceride [TG], apolipoprotein A1 [APO-A1], APO-B100, lipoprotein-a [Lpa] were measured in 110 women with eclampsia and compared with 90 healthy pregnant women. Mean lipid levels in cases and controls were compared using student's t test. Mean systolic/diastolic blood pressure, TC, TG, VLDL-C and Lpa levels were significantly higher [p < 0.001] in patients compared to control women. Similarly TC: HDL-C, LDL-C: HDL-C and TG: HDL-C ratio in the patients group were significantly higher [p < 0.001] and HDL-C: VLDL-C ratio was significantly lower [p < 0.001] in the patients as compared to control group. Undesirable cholesterol were noted in 35.8% patients, HDL-C in 50.5%, borderline high concentration of LDL-C in 23.6%, high triglycerides levels in 73.2%, undesirable cholesterol ratio in 52.3% and undesirable LDL-C ratio were noted in 82.1% patients of eclampsia. Serum lipids were found significantly higher thus early assessment may be helpful in prevention of complications in the eclampsia patients

Prevalence of diabetes mellitus in rural adults of district Peshawar

In Pakistan, approximately 8 million people have diabetes mellitus, making it the fourth leading country in the list of world diabetic patients. To measure the prevalence of diabetes mellitus and its associated risk factors in a rural community of Peshawar. A cross-sectional study conducted in PMRC model research community village of Budhni. All adults over the age of 40 years residing in the specific village were selected for the study. During door to door visit, consent was taken from all the subjects and they were informed that a fasting blood sugar level would be checked a day or two later. All those who consented were interviewed according to pre-designed proforma and their height, weight and blood pressure were recorded using standard methods. Fasting blood samples were drawn the next day and sent to PMRC research laboratory where they were checked using Microlab 200 Merck. Data was analyzed using Epi Info version 6.0. According to American Diabetic Association criteria, fasting blood sugar level of >126 mg/dl was diagnosed. Estimated population of adults > 40 years in the village is 1249 individuals. Nine hundred nine [72.7%] consented to participate in the study. A total of 345 subjects were screened for diabetes using fasting blood sugar as the proxy indicator. Eighty one [23.4%] had blood sugar over 126 mg/dl and were therefore, diagnosed to be diabetic. Of these 81 cases 46[56.8%] were known diabetics while, 35[43.2%] were newly diagnosed. Majority [39] were between 51-60 years, followed by 29 between 40-50 years and remaining 13 subjects were above 60 years of age. Among the 46 known diabetics, 42[91.3%] were non insulin dependent and only 4[8.7%] were insulin dependent. The duration of diabetes was between 1-5 years in 26[57%] cases who were known diabetic's. Those individuals who were not sure about their exact duration of diabetes were 9[19%]. Cases with a family history of diabetes, were at twice more risk to develop diabetes as compared to those who had no family history [OR=1.86 [1.05

Frequency of eclampsia and maternal complications in a tertiary care facility of Peshawar

Eclampsia is a potentially fatal disorder of pregnancy and an important cause of maternal mortality throughout the world. To find out the frequency of eclampsia and its maternal complications in a public sector hospital. This prospective descriptive study was performed in the gynaecology unit "A" of Lady Reading hospital Peshawar. The study included all patients who presented with eclampsia to this unit in one year. The diagnosis was based on convulsions, hypertension and albuminuria. The list of complications included visual, cerebrovascular, cardiovascular, pulmonary, renal, haemostatic and hepatic. Obstetrical and minor complications were not recorded. During the study period a total of 3090 patients were delivered in the unit with 96 cases being diagnosed as eclamptics [3.1%]. Complications were seen in 46[48%] patients. Of 96 cases 11[11.5%] died. Most of the patients who died had more than one complication. Eclampsia is a serious threat to pregnant females and needs to be picked earlier and treated promptly