Many artists have depicted genetic disorders in portrait paintings. In some instances such disorders can be identified in self-portraits, most notably the tetralogy of Fallot in the Dutch painter Dick Ket, or in portraits of the famous, such as the Habsburg jaw in the Emperor Charles V. But it is in other portraits that most examples can be found, such as the different types of dwarfism depicted by Velázquez. A table listing over 70 examples is provided.
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http://dx.doi.org/10.1002/(SICI)1096-8628(19961218)66:3<334::AID-AJMG17>3.0.CO;2-N | DOI Listing |
Metab Brain Dis
January 2025
Programa de Pós-Graduação em Ciências Farmacêuticas, Universidade Federal do Rio Grande do Sul, Avenida Ipiranga, 2752, Porto Alegre, CEP 90610-000, RS, Brazil.
Phenylketonuria is a genetic disorder characterized by high phenylalanine levels, the main toxic metabolite of the disease. Hyperphenylalaninemia can cause neurological impairment. In order to avoid this symptomatology, patients typically follow a phenylalanine-free diet supplemented with a synthetic formula that provides essential amino acids, including L-carnitine.
View Article and Find Full Text PDFFam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Introduction: Hematologic malignancies, originating from uncontrolled growth of hematopoietic and lymphoid tissues, constitute 6.5% of all cancers worldwide. Various risk factors including genetic disorders and single nucleotide polymorphisms play a role in the pathogenesis of hematologic malignancies.
View Article and Find Full Text PDFCancer Chemother Pharmacol
January 2025
Markey Cancer Center, University of Kentucky, Lexington, KY, USA.
Purpose: Patients with partial or complete DPD deficiency have decreased capacity to degrade fluorouracil and are at risk of developing toxicity, which can be even life-threatening.
Case: A 43-year-old man with moderately differentiated rectal adenocarcinoma on capecitabine presented to the emergency department with complaints of nausea, vomiting, diarrhea, weakness, and lower abdominal pain for several days. Laboratory findings include grade 4 neutropenia (ANC 10) and thrombocytopenia (platelets 36,000).
Arch Dermatol Res
January 2025
Institute of Social and Political Sciences, Corvinus University of Budapest, Budapest, Hungary.
This study aims to explore the measurement agreement between direct and indirect health utility measures in four chronic dermatological conditions (atopic dermatitis, hidradenitis suppurativa, pemphigus, psoriasis). Outpatients survey data collected between 2015 and 2021 were analysed. Health-related quality of life (HRQoL) outcome measures included time trade-off (TTO), EQ-5D-5L and Dermatology Life Quality Index (DLQI).
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