Results 11 to 20 of about 3,349,140 (303)

Treatable inherited rare movement disorders [PDF]

Movement Disorders, 2017
ABSTRACTThere are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled ...
Jinnah, H. A., Albanese, Alberto, Jankovic, Joseph, Kaji, Ryuji, Kotschet, Katya, Marras, Connie, Miyasaki, Janis M, Morgante, Francesca, Munchau, Alexander, Pal, Pramod Kumar, Rodriguez Oroz, Maria C, Rodríguez-Violante, Mayela, Bhatia, Kailash P, Schöls, Ludger, Stamelou, Maria, Tijssen, Marina, Uribe Roca, Claudia, de la Cerda, Andres, Gatto, Emilia M, Disorders, International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement, Cardoso, Francisco, Da Prat, Gustavo, de Koning, Tom J, Espay, Alberto J, Fung, Victor, Garcia-Ruiz, Pedro J, Gershanik, Oscar   +26 more
openaire   +7 more sources

Trajectories of depression and anxiety in adults with rare disorders across 13 months during the COVID-19 pandemic [PDF]

Orphanet Journal of Rare Diseases
Background Adults with rare disorders experience multiple psychosocial risk factors beyond their medical symptoms, including impaired quality of life, social isolation, loneliness, and mental health problems.
Øyvind Halsøy, Stian Orm, Hugo Cogo-Moreira, Wendy K. Silverman, Krister Fjermestad   +4 more
doaj   +2 more sources

Thrombosis in rare bleeding disorders

Hematology, 2012
Inherited deficiencies of blood coagulation factors are usually associated with lifelong bleeding tendency. In addition to Haemophilias A and B and von Willebrand disease, congenital deficiencies of such factors as fibrinogen, prothrombin (FII)), FV, FVII, FX, FXI, FXIII, and combined deficiencies occur and can lead to a diversity of clinical ...
Arlette Ruiz-Saez
exaly   +3 more sources

A scoping review of health literacy in rare disorders: key issues and research directions [PDF]

Orphanet Journal of Rare Diseases
Background The ability to find, understand, appraise and utilise health information is crucial among individuals living with rare disorders. The aim of this study was to give a comprehensive overview of the literature on health literacy in adult persons ...
Una Stenberg, Lydia Westfal, Andreas Dybesland Rosenberger, Kristin Ørstavik, Maria Flink, Heidi Holmen, Silje Systad, Karl Fredrik Westermann, Gry Velvin   +8 more
doaj   +2 more sources

Rare Coagulation Disorders [PDF]

Thrombosis and Haemostasis, 1999
SummaryThe type of hemorrhagic manifestations that occur in patients with recessively transmitted coagulation disorders and their optimal treatment are not well established as for hemophilia A and B and von Willebrand disease, due to the rarity of these disorders. In a Muslim country like Iran where consanguineous marriages are frequent these disorders
F. Peyvandi, P.M. Mannucci
openaire   +3 more sources

Adolescents and parents’ perception of Young Person's Face IT: An online intervention for adolescents struggling with conditions affecting their appearance

Digital Health, 2022
Objective A visible difference in appearance caused by a congenital or acquired condition can negatively affect adolescents’ psychosocial well-being. Young Person's Face IT (YPF) is an online intervention based on cognitive behavioural therapy and social
Moa Millgård, Kristin B Feragen, Jeanette Ullmann Miller, Shahrzad Arfa, Heidi Williamson, Johanna Kling   +5 more
doaj   +1 more source

Drugs for rare disorders [PDF]

British Journal of Clinical Pharmacology, 2017
Estimates of the frequencies of rare disorders vary from country to country; the global average defined prevalence is 40 per 100 000 (0.04%). Some occur in only one or a few patients.However, collectively rare disorders are fairly common, affecting 6–8% of the US population, or about 30 million people, and a similar number in the European Union.
Cremers, S, Aronson, J
openaire   +2 more sources

Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

BMC Health Services Research, 2023
Background Only a few studies explore the role of nurses in genetic counselling and genetic health care, and none of them is related to orphan diseases.
Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi   +7 more
doaj   +1 more source

Rare bleeding disorders [PDF]

Haemophilia, 2006
Summary.  Deficiencies of coagulation factors other than factor VIII and factor IX (afibrinogenemia, FII, FV, FV+FVIII, FVII, FX, FXI, FXIII) that cause bleeding disorders (RBDs) are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500.000 and 1 in 2 million for the homozygous forms ...
Peyvandi, F., Kaufman, R. J., Seligsohn, U., Salomon, O., Bolton-Maggs, P. H. B., Spreafico, M., Menegatti, M., Palla, R., Siboni, S., Mannucci, P. M.   +9 more
openaire   +3 more sources

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders [PDF]

, 2022
We are in an emerging era of gene-based therapeutics with significant promise for rare genetic disorders. The potential is particularly significant for genetic central nervous system disorders that have begun to achieve Food and Drug Administration ...
Tauscher-Wisniewski, Sitra, Bönnemann, Carsten, Wang, Dan, Zoghbi, Huda Y, Buxbaum, Joseph D, Kleiman, Robin J, Davidson, Beverly L, Bradbury, Allison M, Shaywitz, Adam J, Sahin, Mustafa, Tifft, Cynthia J, Gray, Steven J, Gray-Edwards, Heather L, Gao, Guangping, Berry-Kravis, Elizabeth, Flotte, Terence R, Corcoran, Gavin R   +16 more
core   +1 more source