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We identified a novel homozygous disease-causing variant in TMC8 in a Pakistani family with epidermodysplasia verruciformis (EV). The phenotype of EV in the affected individuals was most probably caused by an aberrant splicing process. The molecular genetic findings in our patients expand the mutational spectrum of the disease.

Diabetes mellitus is notoriously known around the globe for its pathological problems and it is mostly linked with metabolic, cellular, and blood disorders. In previous studies, the biochemical and hematological anomalies have been associated with type 2 diabetes disorder. In studying this, we compared and analyzed the hematological and biochemical parameters between non-diabetic and diabetic patients from Quetta, Pakistan, and highlighted the anomalies. The results of this study discovered significant anomalies in the biochemical and hematological parameters of diabetic type 2 patients compared with non-diabetic patients. In this study, we conducted a comparative cross-sectional analysis on 100 volunteers among them 50 volunteers were diabetic type 2 patients and the remaining 50 were taken as control these volunteers were selected by applying a systematic random sampling technique. For hematological andbiochemical analysis 5ml of blood from the patients and control group was drawn and subsequently analyzed using an automated cell counter. That was analyzed by using SPSS 22 version. In this study, the majority of subjects in both groups were females. The results of this study displayed that the level of MCV, PVC, RBCs, and hemoglobin was significantly lower compared to diabetic-free individuals. Whereas; mean WBCs and MCHC were highly significant in diabetics patients than the diabetic-free individuals. We did not observe any difference in the level of MCH between both groups. In the case of biochemical parameters comparison, the mean of LDL, TC, creatinine, and urea was higher in the diabetic group as compared to the control group and the value of HDL was lower in the diabetic group.

Objective: To determine the mean placental birth weight ratio at term in primigravidae Study design: Cross-sectional study Place and Duration: Department of Obstetrics and Gynecology, Civil Hospital Karachi, duration was six months after the approval of synopsis from 1st January 2016 to 30th June 2016 Subjects and Methods: A total of pregnant women who fulfill the inclusion criteria were included in this study. After delivery, baby was weighed by using weight machine and weight of baby was also noted (as per operational definition). After expulsion of complete placenta, placental weight was measured by using weight machine. The placental-birth weight ratio (PBWR) were calculated as ratio of placental weight to neonatal weight multiplied by 100. Results: Mean ± SD of maternal age was 24.77±4.04 with C.I (24.11----25.42) years. Mean ± SD of placental weight was 505.84±99.97 with C.I (489.71----521.97) grams. Out of 150 neonatal babies 101 (67.3%) were male and 49 (32.7%) were female. Mean placental birth weight ratio was found to be 16.82±2.63 with C.I (16.39----17.24). Conclusion: It is to be concluded that placental weight increased according to the birth weight. The placental weight to birth weight ratio decreased slightly with advancing gestational age. Keywords: Placental weight, Birth weight ratio, Labour at term, Primigravidae