Computing Individual Risks based on Family History in Genetic Disease in the Presence of Competing Risks [PDF]
arXiv, 2017 When considering a genetic disease with variable age at onset (ex: diabetes , familial amyloid neuropathy, cancers, etc.), computing the individual risk of the disease based on family history (FH) is of critical interest both for clinicians and patients. Such a risk is very challenging to compute because: 1) the genotype X of the individual of interest
arxiv
A comprehensive review of Chronic Kidney Disease of Unknown Etiology [PDF]
arXiv, 2018 This review was written to provide a comprehensive summary of the suggested etiologies of Chronic Kidney Disease of Unknown Etiology (CKDu) in Sri Lanka. In this review, Chronic Kidney Disease (CKD) is explained in detail and its known etiologies are discussed.
arxiv
Proteome-wide prediction of mode of inheritance and molecular mechanism underlying genetic diseases using structural interactomics [PDF]
arXivGenetic diseases can be classified according to their modes of inheritance and their underlying molecular mechanisms. Autosomal dominant disorders often result from DNA variants that cause loss-of-function, gain-of-function, or dominant-negative effects, while autosomal recessive diseases are primarily linked to loss-of-function variants. In this study,
arxiv
Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. [PDF]
, 1990 Sushil Kumar +4 more
openalex +1 more source
Мать и дитя в Кузбассе, 2022 The relevance of the problem of autosomal dominant polycystic kidney disease in childhood is due to age-related features of the formation of renal cysts and clinical manifestations, the frequent development of arterial hypertension syndrome and ...
Андрей Васильевич Налетов +3 more
doaj
An estimate of the average number of recessive lethal mutations carried by humans [PDF]
arXiv, 2014 The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and non-consanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding ...
arxiv
Calcified Renal Stones and Cyst Calcifications in Autosomal Dominant Polycystic Kidney Disease: Clinical and CT Study in 84 Patients [PDF]
, 1992 openalex +1 more source
A dynamic graph-cuts method with integrated multiple feature maps for segmenting kidneys in ultrasound images [PDF]
arXiv, 2017 Purpose: To improve kidney segmentation in clinical ultrasound (US) images, we develop a new graph cuts based method to segment kidney US images by integrating original image intensity information and texture feature maps extracted using Gabor filters.
arxiv
Effect of enalapril on blood pressure, renal function, and the renin-angiotensin-aldosterone system in cats with autosomal dominant polycystic kidney disease [PDF]
, 1999 Rita H. Miller +4 more
openalex +1 more source
AI-Driven Predictive Analytics Approach for Early Prognosis of Chronic Kidney Disease Using Ensemble Learning and Explainable AI [PDF]
arXivChronic Kidney Disease (CKD) is one of the widespread Chronic diseases with no known ultimo cure and high morbidity. Research demonstrates that progressive Chronic Kidney Disease (CKD) is a heterogeneous disorder that significantly impacts kidney structure and functions, eventually leading to kidney failure. With the progression of time, chronic kidney
arxiv