Results 31 to 40 of about 45,763 (247)

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +1 more source

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Orphanet Journal of Rare Diseases, 2021
Background One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new ...
Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases   +20 more
doaj   +1 more source

Anaemia in Waldmann’s disease: A rare presentation of a rare disease

World Journal of Gastrointestinal Endoscopy, 2015
A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Monir Hussein Bahgat, Ahmed Youssef Altonbary, Shahira El-Etreby, Wagdi Elkashef, Mohamed El Sorogy, Jehan A Mazroa   +5 more
openaire   +3 more sources

Quality of life status determinants in hypertrophic cardiomyopathy as evaluated by the Kansas City Cardiomyopathy Questionnaire

Health and Quality of Life Outcomes, 2020
Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota, Sebastian Militaru, Alin Alexandru Ionescu, Monica Rosca, Cristian Baicus, Bogdan Alexandru Popescu, Ruxandra Jurcut   +6 more
doaj   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

Identifying Rare Events in Rare Diseases [PDF]

Clinical Cancer Research, 2015
Abstract Utilizing genomic signatures from diagnostic tumor samples to forecast clinical behavior and response to therapy has long been a goal, and we are now poised to further refine how we can identify the relatively rare patients with aggressive neuroblastoma masquerading as patients with a more benign form of the disease. Clin Cancer
Edward F. Attiyeh, John M. Maris
openaire   +3 more sources

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

Exploring ITM2A as a new potential target for brain delivery

Fluids and Barriers of the CNS, 2022
Background Integral membrane protein 2A (ITM2A) is a transmembrane protein expressed in a variety of tissues; little is known about its function, particularly in the brain.
Céline Cegarra, C. Chaves, C. Déon, T. M. Do, B. Dumas, A. Frenzel, P. Kuhn, V. Roudieres, J. C. Guillemot, D. Lesuisse   +9 more
doaj   +1 more source

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy

罕见病研究
Type Ⅰ interferonopathy is an autoinflammatory disease that affects multiple systems, with a high disability and mortality rate. It profoundly impacts the quality of life of patients and poses a considerable burden on their families and society.
Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee   +1 more
doaj   +1 more source