Fasting plasma glucose (FPG) and hemoglobin A1c (HbA1c) are both used to diagnose diabetes, but these measurements can identify different people as having diabetes. We used data from 117 population-based studies and quantified, in different world regions, the prevalence of diagnosed diabetes, and whether those who were previously undiagnosed and detected as having diabetes in survey screening, had elevated FPG,...
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven chal lenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. In this study, we exome sequenced over 1000 clinically diagnosed NOA cases and identified a plausible recessive Mendelian cause i...
Made available in DSpace on 2022-04-28T19:30:23Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-03-01; From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of ...
Made available in DSpace on 2022-04-28T17:23:38Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-09-11; WHO; Abdul Latif Jameel Institute for Disease and Emergency Analytics - Community Jameel, at Imperial College London, London, UK; British Heart Foundation (Centre of Research Excellence); Background Hypertension can be detected at the primary health-care level and low-cost treatments can effectively con...
De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic an...
Study question: What is the load, distribution and added clinical value of secondary findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive azoospermia (NOA)? Summary answer: One in 28 NOA cases carried an identifiable, medically actionable SF. What is known already: In addition to molecular diagnostics, ES allows assessment of clinically actionable disease-related gene variants tha...
Made available in DSpace on 2021-06-25T15:08:19Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-03-09; Wellcome Trust; From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in th...
Male infertility impacts millions of couples yet, the etiology of primary infertility remains largely unknown. A critical element of successful spermatogenesis is maintenance of genome integrity. Here, we present a genomic study of spermatogenic failure (SPGF). Our initial analysis (n=176) did not reveal known gene-candidates but identifed a potentially signifcant single-nucleotide variant (SNV) in X-linked ger...
Made available in DSpace on 2018-11-26T20:04:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-12-16; Wellcome Trust; AstraZeneca; Background Underweight, overweight, and obesity in childhood and adolescence are associated with adverse health consequences throughout the life-course. Our aim was to estimate worldwide trends in mean body-mass index (BMI) and a comprehensive set of BMI categories that cove...
Made available in DSpace on 2018-11-26T22:38:16Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-06-01; Wellcome Trust; Background: Change in the prevalence of raised blood pressure could be due to both shifts in the entire distribution of blood pressure (representing the combined effects of public health interventions and secular trends) and changes in its high-blood-pressure tail (representing successfu...