R990G Polymorphism of calcium sensing receptor gene Is associated with high Parathyroid Hormone levels in subjects with Vitamin D deficiency: a cross-sectional study

Single nucleotide polymorphisms (SNPs), R990G and A986S of the calcium sensing receptor (CaSR) gene, are shown to influence response of parathyroid hormone (PTH) in subjects with optimal vitamin D levels. This cross-sectional study was conducted in subjects with vitaminDdeficiency (VDD) to observe association’s betweenCaSR polymorphisms, plasma iPTH, and serumcalcium levels. Adult females ( = 140) with known VDD, intact parathyroid hormone (iPTH), and calcium levels were recruited for genotype analysis.The frequencies of the 986 alleles GG, GT, and TT were 68%, 25%, and 7%, respectively, whereas the frequencies of the 990 alleles AA, AG, and GG were 80%, 8.9%, and 11.1%, respectively.Thesubjects with GG genotype of R990G polymorphism had higher iPTH levels (148.65 versus 91.47 and 86.1 pg/mL for GG versus AA, AG, resp., = 0.008) and lower calcium levels (8.4 versus 9.04 and 9.07mg/dL for GG versus AA, AG, resp., = 0.002). No such association of A986S polymorphism with plasma iPTH or serum calcium levels was observed in the present study. Patients with VDD bearing the GG genotype of R990G SNPs are prone to have higher iPTH levels and lower calcium

Learnability factors for investigating the effectiveness of augmented reality smart glasses in smart campus

Augmented Reality (AR) has become an emerging platform in the field of learning either in education or industry. Wearable AR smart glasses are the example of new wearable technology devices in AR. AR smart glasses has been introduced as another alternative to enhance the user's experience in the real world rather than replacing the principle of learning. In education, AR smart glasses is seen as a possible technology to be embedded in the teaching and learning among lecturers and students for achieving smart campus environment. The effectiveness of AR smart glasses in education is a prospect for further study. Thus, this paper aims to identify the factors for investigating the learnability of students while learning using AR smart glasses. Various existing learning factors were reviewed through literature exploration and potential AR smart glasses learning factors are suggested. The results are significance for the development of the AR smart glasses learnability model that will further investigate in the future work

Blended learning mediated fostering of students’ engagement in an undergraduate medical education module

Introduction: The study investigated students’ perception of introducing blended learning strategies to engage and motivate them towards lecture halls and Problem Based Learning (PBL) sessions for improving the quality of the overall students’ learning experience.Methods: A prospective study was conducted at the Aga Khan University Medical College involving a total of one hundred four (104) year II medical students for the Endocrine and Reproduction module in the academic year 2018. This module ran for six weeks. Modifications in teaching methods were made for this module introduced after approval from Endocrine & Reproduction module, year II and curriculum committees. Written informed consent was obtained from facilitators and students. To assess the effectiveness of modifications introduced, students’ feedback was taken on a Likert\u27s scale of 1-5, at the end of the module. Data were analyzed by SPSS version 20.Results: Total 94 (90%) students participated in the written feedback. Forty percent medical students (n=38) responded that videos were useful, 54% (n=51) acknowledged that post-PBL activities like crossword puzzles and Kahoot games, created significant discussions amongst students in a fun yet intellectual manner. Seventy percent of students (n=66) agreed that access to Kahoot was easy and no connectivity issues were faced. Twenty percent students (n=20) endorsed that flipped lectures enhanced understanding of topics, 87% students (n=82) felt that recorded lecture was very helpful and flash cards were found helpful by 14% students (n=12)

Calcaneal ultrasound and its relation to dietary and lifestyle factors, anthropometry, and vitamin D deficiency in young medical students

Background: Bone quality and peak bone mass are greatly affected by lifestyle factors. The objective of the study was to investigate the relationships between anthropometry, dietary and caloric intake, body composition measurements, physical activity, and vitamin D status with quantitative ultrasound-based bone parameters among medical students.Methods: Both male and female medical college students were included in this study. A detailed questionnaire was administered, collecting clinical, dietary, physical activity information, physical examination details, including body mass index (BMI). Body composition (total body fat, total body water, muscle mass, mean visceral fat mass, basal metabolic rate, bone mass using a bioelectrical impedance analyzer) and calcaneal heel ultrasound parameters were measured using an Osteosys Sonost-3000, Ultrasound Bone Densitometer were measured, respectively.Results: In this cross-sectional study, 211 healthy students with a mean age of 20.1 ± 1.1 years, 51.7% (n = 109) were males. Majority (79.4%) of the young adults had vitamin D deficiency. The mean BMI, calcium intake, and vitamin D levels were 22.35 ± 3.43 kg/m2, 788.7 ± 364.8 mg/day, and 15.02 ± 8.63 ng/ml, respectively. Female subjects compared to males had statistically significantly lower daily energy intake, muscle mass, visceral fat mass, calcium intake, and vitamin D levels. In addition the median Z-scores in females [-1.40 (-0.57 to -1.82)] was significantly poorer than the male [-0.50 (0.20 to -1.3)] counterparts, p-value \u3c0.001. Multiple regression analysis showed that overall body fat percent (p-value 0.016) and visceral fat percent (p-value 0.029) were the only significant negative predictors to the calcaneal bone quality index (BQI) values.Conclusion: Adolescent lifestyle patterns can influence young adult bone strength. The young Pakistani females exhibited significantly lower dietary intakes and more inadequate bone parameters compared to males. Our data suggest that total body and visceral fat percent are the predominant negatively associated determinant of bone strength for this cohort. Calcaneal ultrasound can be utilized for mass screening of young adults for identification of low BMD

Determining bone turnover status in patients with chronic liver disease

Introduction: Hepatic osteodystrophy is an osteoporotic bone disease that occurs in chronic liver disease patients. The global prevalence of osteoporosis in patients with chronic liver disease is 30% to 40%. The pathogenesis of hepatic bone disease is not clear, but it occurs due to unstable bone remodeling with increased bone resorption and decreases bone formation. There has been an interest in determining the clinical utility of bone turnover markers (BTMs) in the assessment of osteoporosis in chronic liver patients.Methods: This was a cross-sectional study conducted in patients with chronic liver disease at the section of chemical pathology, department of pathology and laboratory medicine, Aga Khan University (AKU). A total of 50 patients with age \u3e8 years and a history of liver disease \u3e6 months were recruited from January to October 2019. Liver function tests, i.e. aspartate aminotransferase (AST), alanine transaminase (ALT), albumin, and bilirubin, along with clinical signs of liver disease chronicity, were noted. The samples for BTMs, i.e. total serum alkaline phosphatase (ALP) and serum C-terminal telopeptide of type-1 collagen (CTX) were withdrawn and analyzed on Microlab (ELItech Group, Puteaux, France) and ADVIA Centaur (Siemens Diagnostics, NY), respectively.Results: The majority of patients were males (n=34, 68%). Twenty-four (48%) patients suffered from fibrosis while 26 (52%) were without fibrosis. Median platelet count (68×109/L (102.5-50)) and median cholesterol levels (102.5 mg/dl (147-99.5)) were decreased, whereas gamma-glutamyl transferase (GGT) levels were higher in the fibrosis group as compared to the non-fibrosis group. The median levels of total ALP were 91.5 IU/L (103-82), and the median levels of CTX were 0.24 pg/ml (0.34-0.21).Conclusion: In the present study, no significant difference was found in the BTMs of patients with and without chronic liver disease (CLD). However, there was a positive and significant correlation of BTMs, particularly CTX with age, bilirubin levels, and hepatomegaly

High burden of subclinical lead toxicity after phase out of lead from petroleum in Pakistan

OBJECTIVE:To evaluate the frequency of subclinical lead toxicity.STUDY DESIGN:Cross-sectional study.PLACE AND DURATION OF STUDY:Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, from January 2011 to December 2014.METHODOLOGY:Analysis of laboratory data for blood lead levels (BLL) was performed. Lead was tested by atomic absorption spectrometer. For all subjects, only initial test results were included while the results of repeated testing were excluded. Exemption was sought from institutional ethical review committee. BLL of 2-10 ug/dl and 10-70 ug/dl in children and adults, respectively were taken as subclinical lead toxicity.RESULTS:Amongst the total number of subjects tested (n=524), 26.5% (n=139) were children (\u3c16 years) while rest were adults. Overall median BLLs was 6.4 ug/dl (20.9-3.1). The median BLL was 4 ug/dl (6.7-2.6) in children and 8.3 ug/dl (27.9-3.4) in adults, respectively. The BLL increased with age; higher levels were observed in age range 21-30 years of subjects [median lead level 16.9 ug/dl (36.1-4)] and lower level [4.2 ug/dl (6.8-2.6)] in children with \u3c10 years of age. Only 16% (n=22) children had desirable lead levels while most had either subclinical (76%, n=106) or toxic lead levels (8%, n=11). In adults, (55%, n=212) subjects had desired lead levels, and 40% (n=154) and 4.99% (n=19) had subclinical and toxic lead levels.CONCLUSION:Presence of subclinical lead poisoning even after phasing out of lead petroleum in Pakistanis is alarming, especially in children. A national population-based study to determine the lead status and targeted intervention to identify potential sources is need of the time

Burden of zinc (Zn) deficiency: A high volume clinical laboratory data analysis

A cross-sectional survey was done at the Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, AKUH, Karachi, to determine frequency of Zn deficiency, the second major micronutrient deficiency in developing countries, in subjects coming for investigations. Data of plasma Zn, from Jan 2013 to Dec 2014 was analyzed and deficiency was labeled at \u3c65ug/dl. Total 469 subjects were tested for plasma Zn levels over the period of 24 months and complete information was available for 422 subjects, included in final analysis. Median age of subjects was 13 yrs (IQR 7-35) and 57% were male. Mean plasma Zn levels of the total subjects were 105±42.6ug/dl. Out of the total subjects 13.5% (n=57) had Zn deficiency (mean plasma Zn 52±11 ug/dl), and most of them were of age group 6-16yrs. These findings advocate that diet of Pakistani children should be revised in order to provide sufficient amounts of Zn

Unique classification of parathyroid dysfunction in patients with transfusion dependent thalassemia major using nomogram: A cross sectional study

Introduction: Hypoparathyroidism is a rare complication of iron overload in patients with transfusion dependent β thalassemia major (β-TM). We aim to determine the prevalence of parathyroid dysfunction in patients with β-TM. Methods:Diagnosed cases of transfusion dependent β-TM between 5 and 17 years of age were recruited from outpatient clinics of a non-profit organization in Karachi, Pakistan. Blood and urine samples were collected in fasting to determine Ca, P, Alb, Mg, Cr 25OHD and iPTH. Patients were grouped on the basis of upper and lower levels of Ca, 25OHD and iPTH for assessing parathyroid dysfunction into primary hypoparathyroidism [low calcium (Ca) & intact parathyroid hormone (iPTH)], sub-clinical hypoparathyroidism [low iPTH and 25 hydroxy vitamin D (25OHD), low/normal Ca], normal functioning parathyroid gland [Normal Ca, iPTH and 25OHD] and secondary hyperparathyroidism [high iPTH, low/normal Ca and/or 25OHD]. Using PTH nomogram subject specific expected PTH (maxPTH) was calculated. Difference between maxPTH and measured iPTH was determined to assess the utility of nomogram in identifying parathyroid gland dysfunction. The statistical analysis was performed using the Statistical Package of Social Sciences (SPSS) version 20. Results: Median age of patients was 11 years (13-7) with males being 54.2% (n = 205).Based on Ca, 25OHD and iPTH, primary hypoparathyroidism was identified in 3.4% (n = 13) [median iPTH 11.3 pg/ml (12.6-7)], 52.3% (n = 192) had subclinical hypoparathyroidism [iPTH 40.4 pg/ml (52.7-28.7)], and 34% (n = 125) were identified as secondary hyperparathyroidism [iPTH 88.6 pg/ml (116-74.7)]. Normal response to Ca & 25OHD was seen in 10.6% (n = 39) [iPTH 44.2 pg/ml (53.8-33.4)] patients. High phosphorous was present in all groups. Difference between maxPTH & iPTH was highest in primary hypoparathyroidism, followed by subclinical and secondary hyperparathyroidism. Conclusion:Nomogram by Harvey et al. identify low secretion capacity of parathyroid gland that correlated with biochemical classification of patients. It requires clinical validation before using in clinical practice for assessing parathyroid dysfunction

Retrospective study of patients with hyperphenylalaninemia: Experience from a tertiary care center in Pakistan

Objective: To assess the clinical and biochemical features as well as outcome of perphenylalaninemia patients.Methods: The descriptive retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from January 2013 to February 2017 of plasma amino acid analysed at the Biochemical Genetic Laboratory of patients with phenylalanine levels \u3e120 umol/L. Medical charts of patients registered with the Metabolic Clinics were reviewed, while outside referrals were contacted by telephone to collect data on a pre-structured questionnaire. Data was analysed using SPSS 21. Results: Of the 18 patients, 13(72%) were males. Overall median age was 606 days (interquartile range: 761) and median phenylalanine levels were 1280 (interquartile range: 935) umol/L. Phenylalanine hydroxylase deficiency was present in 5(28%) patients while 3(16.6%) had defects in the metabolism or regeneration of tetrahydrobiopterin. The most common clinical features was intellectual deficit and seizures 14(78%) each, followed by lighter hair colour 10(55.5%) and hypotonia 11(61%). High treatment cost was the leading reason for cessation of therapy in 7(39%) followed by refusal by patient\u27s family 5(28%).Conclusion: Most hyperphenylalaninemia cases were diagnosed late when intellectual disability had already developed