Results 81 to 90 of about 6,918,895 (258)

Medical Genetics in Clinical Practice [PDF]

, 2018
Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an
Beighton, PH, Nelson, MM
core  

History of medical genetics

, 2013
This article is a revision of the previous edition article by Victor A McKusick, volume 1, pp 3–32, © 2007, Elsevier Ltd. During the past 60 years, since Medical Genetics first became a defined field of genetics, and a medical specialty in its own ...
Harper, Peter Stanley, Peter S. Harper, McKusick, Victor A., Victor A. McKusick   +3 more
core   +1 more source

Neurocognitive, School‐Based, and Quality of Life Outcomes for Youth With Sickle Cell Disease and Thalassemia: A Scoping Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT The medical burdens of sickle cell disease (SCD) and transfusion‐dependent β‐thalassemia (TDT) are chronic and cumulative, even in children. Yet the effects expand beyond medications and healthcare visits due to their impacts on school attendance, academic performance, and peer engagement.
Mary Ann Etling, Hakim Tokhi, Alexander A. Boucher   +2 more
wiley   +1 more source

Medical genetics in clinical practice [PDF]

, 2019
Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an
Beighton, P.H., Nelson, Matilda M.
core  

Representation of Sickle Cell Disease Patients in Pediatric and Adult Care: What We Discovered Using Informatics for Integrating Biology and the Bedside (i2b2) Data

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Transitioning from pediatric to adult care is a high‐risk period for individuals with sickle cell disease (SCD). An initial observation at one academic medical center suggested a sex‐based disparity in clinic populations, prompting a national investigation.
Laurie J. Duckworth, Kholod Alhassan, Ada De La Osa, John Stephen, Yue Yao, Diana J. Wilkie   +5 more
wiley   +1 more source

Bioinformatics for Human Genetics: Promises and Challenges

, 2011
International audienceComputers have been used for decades to get practical work done in the field of human genetics for the benefit of patients and the advancement of science.
Peter N. Robinson, Robinson, PN, Lindblom, Annika Elisabeth, Lindblom, A,, Annika Lindblom, Robinson, Peter, N.   +5 more
core   +1 more source

Association Between Individualized Education for Kidney Replacement Therapy Modality Selection and Peritoneal Dialysis Initiation: A Cross‐Sectional Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) is an established home‐based kidney replacement therapy (KRT), but its uptake remains low in Japan. We evaluated whether individualized education in a dedicated outpatient clinic was associated with the initiation of PD.
Yasuko Ito, Ryuichi Yoshimura, Takaki Yamauchi, Yuta Funakoshi, Hirotaka Sonoda, Seiji Kobayashi, Hiroyuki Terawaki, Takafumi Ito   +7 more
wiley   +1 more source

Progress of Education, Research and Services in Medical Genetics, in Some Institutions of Iran [PDF]

, 2009
The present paper is a review of progress and major activities in education, research, services and ethics in the field of medical genetics in some centers in Iran.
Lotfi, A. S., Farhud, Daryoush., Sadighi, H., Hashemzadeh-Chaleshtori, Morteza., Akhondi, Mohammad Mehdi.   +4 more
core  

Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions

Frontiers in Psychiatry
Rare neurodevelopmental copy number variants (ND-CNVs) have been implicated in a range of psychiatric and neurodevelopmental conditions. Despite their known association with a range of behavioural outcomes, the role of ND-CNVs in eating disorders and ...
Samuel J. R. A. Chawner
doaj   +1 more source

Effect of DFPP on Ferroptosis in Peripheral Blood CD14+ Monocytes of Hyperlipidemic Patients Involving the ACSL4/LPCAT3/ALOX5 Pathway

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng, Lan Li, Qingmei Yang, Meipeng Wu   +3 more
wiley   +1 more source