Results 41 to 50 of about 1,474,438 (314)

Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome

, 2022
Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning ...
Magdalena BUDISTEANU, Ina Ofelia FOCSA, Monica PANZARU, Mihaela BALGRADEAN, Lavinia CABA, Cristina RUSU, Claudia JURCA, Cristina STOICA, Lacramioara BUTNARIU, Florina NEDELEA   +9 more
core   +1 more source

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source

Clinically important change for the FACIT-Fatigue scale in paroxysmal nocturnal hemoglobinuria: a derivation from international PNH registry patient data

Journal of Patient-Reported Outcomes, 2023
Background Fatigue is the most common symptom associated with paroxysmal nocturnal hemoglobinuria (PNH). The objective of this analysis was to estimate values that would suggest a clinically important change (CIC) for the functional assessment of chronic
David Cella, Peter Johansson, Yasutaka Ueda, Ioannis Tomazos, Philippe Gustovic, Alice Wang, Ami S. Patel, Hubert Schrezenmeier   +7 more
doaj   +1 more source

Funding rare disease therapies in Australia: ensuring equitable access to health care for all Australians [PDF]

, 2014
This report argues that Australia’s system for funding new therapies that treat rare diseases is in need of reform. Overview In the last 4 years only two new therapies have been approved under Australia’s current program for rare disease therapies ...

core  

Carcinomas and Carcinoid Tumors of the Lungs and Bronchi in Children and Adolescents: The EXPeRT Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele, Calogero Virgone, Michaela Kuhlen, Sabine Irtan, Yves Reguerre, Malgorzata Krawczyk, Ewa Bien, Tal Ben‐Ami, Maja Cesen, Ricardo Lopez‐Almaraz, Andrea Ferrari, Gianni Bisogno, Dominik T. Schneider, Abbas Agaimy, Constantin Lapa, Hubert Ducou le Pointe, Rainer Claus, Catherine Daniel, Ines B. Brecht, Daniel Orbach   +19 more
wiley   +1 more source

Risk factors for pregnancy-related clinical outcome in myasthenia gravis: a systemic review and meta-analysis

Orphanet Journal of Rare Diseases, 2022
Objective Myasthenia gravis (MG) is an autoimmune disorder that frequently affects females at reproductive age. Herein, we aimed to assess the associations of clinical factors with pregnancy-related outcome in MG.
Manqiqige Su, Xiaoqing Liu, Liang Wang, Jie Song, Zhirui Zhou, Sushan Luo, Chongbo Zhao   +6 more
doaj   +1 more source

Studying Epidemiological Properties Of Rare Diseases

, 2021
Introduction: A type of disease where a small percentage of the population has been affected are called rare diseases. The rare diseases subject is full of misunderstandings.
Alam, Jamal
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Characterisation and validation of insertions and deletions in 173 patient exomes. [PDF]

, 2012
Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders.
Bonfiglio S., Francesco Lescai, Henry Houlden (110428), Williams Julie, Richard Williams (29445), Donna Mackay (110441), Hubank M., John Hardy (23295), Kasperavičiūtė, D, John C. Achermann (110416), Bacchelli, C, Denise Harold, Sisodiya Sanjay M., Bacchelli C., Henry Houlden, Tonini G. P., Hardy John, David Kelsell (110422), Hardy, J, Bonfiglio, S, Harold D., Silvia Bonfiglio (110384), Kelsell, D, Kelsell David, Wood N., Elia Stupka (23015), Harold, D, Kasperaviciute D., Jane Sowden (110446), Beales, P, Chiara Bacchelli (110388), Tonini, GP, Lescai, F, Kleta R., Aoife Waters, Vulliamy Tom, Osinska Justyna, Jane Sowden, Justyna Osinska (110450), Lescai Francesco, Sheerin, U, Estelle Chanudet (110393), Tony Brooks (110451), Kasperavičiūtė Dalia, Philip Beales (110453), Hubank Mike, Estelle Chanudet, Una Sheerin (110436), Houlden Henry, Beales P., Silvia Bonfiglio, Williams J., Bacchelli Chiara, Kleta, R, Sebahattin Cirak, Kinsler V., Anderson J., Williams R., Elia Stupka, Brooks Tony, Sowden, J, Veronica Kinsler, Houlden, H, Chanudet, E, Hardy J., Anderson John, Dalia Kasperavičiūtė (110404), Mackay, D, Sheerin Una, Anderson, J, Sowden J., Williams, R, Waters Aoife, Achermann John C., Williams, J, Stupka, E, Harold Denise, Tom Vulliamy, Brooks T., Mackay Donna, Achermann J. C., Sisodiya S. M., Stupka Elia, Nicholas Wood (110432), Sanjay M. Sisodiya (110401), John Anderson (11218), Houlden H., Julie Williams, John C Achermann, Gian Paolo Tonini, Julie Williams (110407), John Hardy, Stupka E., Beales Philip, Lescai F., Wood Nicholas, Wood, N, Mackay D., Cirak, S, Justyna Osinska, Philip Beales, Tonini Gian Paolo, Richard Williams, Una Sheerin, Cirak S., Veronica Kinsler (110449), Kinsler Veronica, John Anderson, Mike Hubank, Dalia Kasperavičiūtė, Sisodiya, SM, Gian Paolo Tonini (110438), Cirak Sebahattin, Hussain Khalid, Denise Harold (110410), Francesco Lescai (110380), Chanudet E., Chanudet Estelle, Hubank, M, Williams Richard, David Kelsell, Robert Kleta, Waters, A, Donna Mackay, Khalid Hussain, Sowden Jane, Achermann, JC, Sanjay M Sisodiya, Sebahattin Cirak (110413), Robert Kleta (56515), Mike Hubank (110452), Vulliamy T., Hussain, K, Bonfiglio Silvia, Nicholas Wood, Kleta Robert, Tom Vulliamy (110425), Osinska, J, Brooks, T, Tony Brooks, Hussain K., Waters A., Kelsell D., Chiara Bacchelli, Aoife Waters (110398), Khalid Hussain (110443), Vulliamy, T, Osinska J., Sheerin U., Kinsler, V   +149 more
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European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Erdheim-Chester Disease [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2016
Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. Osteosclerosis of long bones, often associated with
Matzumura, Melissa, Arias-Stella, Javier, Novak, James E.   +2 more
openaire   +2 more sources