Case Reports in Urology, 2014 Tumor marker carbohydrate antigen 19-9 (CA 19-9) level has gained clinical significance in gastrointestinal malignancies and in various solid and cystic diseases.
Reza Khorramirouz +3 more
doaj +1 more source
Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease
Balkan Journal of Medical Genetics, 2022 Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner ...
Kaynar K +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review [PDF]
, 2018 Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
Bhalla, Sanjeev +6 more
core +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
Deep Learning for Polycystic Kidney Disease: Utilizing Neural Networks for Accurate and Early Detection through Gene Expression Analysis [PDF]
arXiv, 2023 With Polycystic Kidney Disease (PKD) potentially leading to fatal complications in patients due to the formation of cysts in kidneys, early detection of PKD is crucial for effective management of the condition. However, the various patient-specific factors that play a role in the diagnosis make it an intricate puzzle for clinicians to solve, leading to
arxiv
Systematic review of transition models for young people with long-term conditions: A report for NHS Diabetes. [PDF]
, 2013 Aims For many young people with Type 1 diabetes, transition from paediatric to adult care can result in a marked deterioration in glycaemic control.
Bagnall, A, Day, R, Kime, NH
core
Mechanical Instabilities of Biological Tubes
, 2012 We study theoretically the shapes of biological tubes affected by various pathologies. When epithelial cells grow at an uncontrolled rate, the negative tension produced by their division provokes a buckling instability.
A. P. Evan +9 more
core +1 more source
Effect of ovariectomy on the progression of chronic kidney disease-mineral bone disorder (CKD-MBD) in female Cy/+ rats [PDF]
, 2019 Male Cy/+ rats have shown a relatively consistent pattern of progressive kidney disease development that displays multiple key features of late stage chronic kidney disease-mineral bone disorder (CKD-MBD), specifically the development of cortical bone ...
Allen, Matthew R. +7 more
core +1 more source
Prediction of Chronic Kidney Disease Using Deep Neural Network [PDF]
arXiv, 2020 Deep neural Network (DNN) is becoming a focal point in Machine Learning research. Its application is penetrating into different fields and solving intricate and complex problems. DNN is now been applied in health image processing to detect various ailment such as cancer and diabetes.
arxiv