A Novel Data-Driven Framework for Risk Characterization and Prediction from Electronic Medical Records: A Case Study of Renal Failure [PDF]
arXiv, 2017 Electronic medical records (EMR) contain longitudinal information about patients that can be used to analyze outcomes. Typically, studies on EMR data have worked with established variables that have already been acknowledged to be associated with certain outcomes. However, EMR data may also contain hitherto unrecognized factors for risk association and
arxiv
Gambaran Kualitas Hidup Pasien Gagal Ginjal Kronik yang Menjalani Terapi Continuous Ambulatory Peritoneal Dialysis di RSUD Arifin Achmad Provinsi Riau dengan Menggunakan Kuesioner KDQOL-SFTM [PDF]
, 2014 Chronic renal failure is an end stage of renal disease that can be treated by dialysis, which one of them is Continuous Ambulatory Peritoneal Dialysis (CAPD).
Bebasari, E. (Eka) +2 more
core
Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa +2 more
wiley +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
Identifying Candidate Risk Factors for Prescription Drug Side Effects using Causal Contrast Set Mining [PDF]
arXiv, 2016 Big longitudinal observational databases present the opportunity to extract new knowledge in a cost effective manner. Unfortunately, the ability of these databases to be used for causal inference is limited due to the passive way in which the data are collected resulting in various forms of bias.
arxiv
Serum ferritin assay and iron status in chronic renal failure and haemodialysis. [PDF]
, 1975 Saadaq Adan Hussein +5 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
BIOTRANSFORMATION AND EXCRETION OF LORAZEPAM IN PATIENTS WITH CHRONIC RENAL FAILURE [PDF]
, 1976 Roger K. Verbeeck +3 more
openalex +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
CARDIOVASCULAR DISEASE AND CHRONIC RENAL FAILURE
Zdravniški Vestnik, 2003 Background. Cardiovascular disease (CVD) is the main cause of morbidity and mortality in patients with chronic renal failure. CVD morbidity is approximately 10–20 times higher in patients with chronic renal failure compared with that in general ...
Robert Ekart +4 more
doaj