Results 21 to 30 of about 1,622,414 (348)

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

Ollier's Disease - Rare Presentation of the Rare Disease.

Journal of orthopaedic case reports, 2021
Enchondromas are benign lesion of cartilaginous origin seen in early childhood. Multiple enchondromatosis is also known as Ollier's disease which involves the appendicular skeleton with multiple site involvement. We present a rare case of appendicular as well as axial skeleton involvement in a case of Ollier's disease.A 13-year-old male with multiple ...
Singh, Sukhmin, Dhingra, Mohit, Verma, Aman, Moger, Nagaraj Manju, Raja, Balgovind S   +4 more
openaire   +2 more sources

Collecting rare diseases [PDF]

F1000Research, 2014
This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
openaire   +2 more sources

Rare disease, rare information

Proceedings of the ALISE Annual Conference, 2022
This study aimed to uncover the types of daily healthcare information provided by hospitals to family caregivers of individuals with rare diseases and determine whether the information provided met the family caregivers’ information needs to improve digital information access and use by family caregivers.
openaire   +2 more sources

The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington’s disease [PDF]

, 2020
Objective Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD).
Alves, Sandro, Betuing, Sandrine, Caboche, Jocelyne, Carmo-Silva, Sara, Cartier, Nathalie, Conceição, André, Costa, Rafael G, Koppenol, Rebekah, Marcelo, Adriana, Matos, Carlos A, Nunes, Ricardo, Nóbrega, Clévio, Sequeira, Raquel L.   +12 more
core   +1 more source

National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses

Orphanet Journal of Rare Diseases, 2021
Background China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years.
Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu, Shuyang Zhang, the Administrative Group of National Rare Diseases Registry System of China   +14 more
doaj   +1 more source

Disease Knowledge Transfer across Neurodegenerative Diseases [PDF]

, 2019
We introduce Disease Knowledge Transfer (DKT), a novel technique for transferring biomarker information between related neurodegenerative diseases. DKT infers robust multimodal biomarker trajectories in rare neurodegenerative diseases even when only ...
Alexander, Daniel C., Blumberg, Stefano B., Crutch, Sebastian J., Eshaghi, Arman, Golland, Polina, Lorenzi, Marco, Marinescu, Razvan V., Morell, Pere P., Oxtoby, Neil P., Yong, Keir X., Young, Alexandra L.   +10 more
core   +4 more sources

Adopting Quality Criteria for Websites Providing Medical Information About Rare Diseases [PDF]

, 2016
BACKGROUND: The European Union considers diseases to be rare when they affect less than 5 in 10,000 people. It is estimated that there are between 5000 and 8000 different rare diseases. Consistent with this diversity, the quality of information available
Pauer, Frederic, Gobel, Jens, Storf, Holger, Litzkendorf, Svenja, Babac, Ana, Frank, Martin, Luhrs, Verena, Schauer, Franziska, Schmidtke, Jorg, Biehl, Lisa, Wagner, Thomas O.F., Uckert, Frank, Schulenburg, Johann-Matthias Graf von der, Hartz, Tobias   +13 more
core   +5 more sources

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

Orphanet Journal of Rare Diseases, 2020
Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases ...
Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía, Antoni Riera-Mestre, for the RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine   +12 more
doaj   +1 more source

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +1 more source