Results 11 to 20 of about 5,265,871 (311)

The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases

Medicina, 2023
Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila, Marina Boziki, Christos Bakirtzis, Thomai Stardeli, Nikoletta Smyrni, Ioannis Nikolaidis, Dimitrios Parissis, Theodora Afrantou, Theodore Karapanayiotides, Ioanna Koutroulou, Virginia Giantzi, Paschalis Theotokis, Evangelia Kesidou, Georgia Xiromerisiou, Efthimios Dardiotis, Panagiotis Ioannidis, Nikolaos Grigoriadis   +16 more
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Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration

Frontiers in Neurology, 2023
Substantial challenges in study design and methodology exist during clinical trial development to examine treatment response in patients with a rare disease, especially those with predominant central nervous system involvement and heterogeneity in ...
Aleksandar Videnovic, Helle C. V. Pfeiffer, Helle C. V. Pfeiffer, Anna Tylki-Szymańska, Elizabeth Berry-Kravis, Fatih Ezgü, Jitendra Ganju, Agnieszka Jurecka, Anthony E. Lang   +8 more
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Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Cell Reports, 2014
De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown.
Xuyu Cai, Gilad D. Evrony, Hillel S. Lehmann, Princess C. Elhosary, Bhaven K. Mehta, Annapurna Poduri, Christopher A. Walsh   +6 more
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Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

JIMD Reports, 2022
In an open‐label, controlled study of nitisinone in alkaptonuria (SONIA 2), patients were advised to lower dietary protein intake to reduce serum tyrosine (s‐Tyr) levels and the risk of keratopathy.
Birgitta Olsson, Lakshminarayan Ranganath, Jean‐Baptiste Arnoux, Richard Imrich, Anna Milan, Mattias Rudebeck   +5 more
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An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease

Frontiers in Neurology, 2023
ObjectiveWe retrospectively screened 350,116 electronic health records (EHRs) to identify suspected patients for Pompe disease. Using these suspected patients, we then describe their phenotypical characteristics and estimate the prevalence in the ...
Simon Lin, Simon Lin, Jama Nateqi, Jama Nateqi, Rafael Weingartner-Ortner, Stefanie Gruarin, Hannes Marling, Vinzenz Pilgram, Florian B. Lagler, Florian B. Lagler, Elmar Aigner, Elmar Aigner, Alistair G. Martin   +12 more
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Novel Therapies for Orphan Diseases [PDF]

ACS Medicinal Chemistry Letters, 2019
"Orphan" does not mean infrequent: over 7000 rare diseases affect millions of individuals. The US Orphan Drug Act and analogous regulations have succeeded at accelerating the development of novel therapies, but high prices threaten sustainability. Lysosomal storage disorders serve here to illustrate the light and shadows of this burgeoning field.
José M. García Fernández, Carmen Ortiz Mellet   +1 more
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Orphan Kidney Diseases [PDF]

Nephron Clinical Practice, 2012
Rare kidney diseases are a unique subset of renal disorders that are often termed ‘orphan’ as a result of a multitude of reasons: the small number of patients with the consequent lack of well-defined natural history and course of many of these diseases, limited awareness among the medical community, and finally the significant cost of developing novel ...
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The BabySeq project: implementing genomic sequencing in newborns

BMC Pediatrics, 2018
Background The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The “BabySeq Project” is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic sequencing into the
Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz, Susan E. Waisbren, Timothy W. Yu, The BabySeq Project Team, Robert C. Green, Alan H. Beggs   +20 more
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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

JIMD Reports, 2020
Cardiomyopathy is a frequent complication of propionic acidemia (PA). It is often fatal, and its occurrence is largely independent of classic metabolic treatment modalities.
Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott Elisofon, Michael Ferguson, Heung Bae Kim, David J. Harris, Didem Demirbas, Mohammed Almuqbil, William L. Nyhan   +13 more
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Rare diseases, orphan drugs, and orphan diseases [PDF]

BMJ, 2006
Rare comes from the Latin rarus (loosely spaced or sparse) and eventually from the putative Indo-European root ERE, denoting separation, as in hermits and eremites and the net-like structures rete, retinaculum, and retina. Orphan comes from the Greek orphanos (a child deprived of one parent or both, or an adult deprived of a child).
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