Results 21 to 30 of about 1,415,866 (266)

Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy

Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023
Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao, LIU Xiaoli, WU Jingying, NI Ruilong, ZHANG Mengyuan, JI Duxin, ZHANG Mei, CAO Li   +7 more
doaj   +1 more source

Genetics of Prion Disease

Current Opinion in Genetics & Development, 2011
Prion diseases or transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders of humans and animals for which there are no effective treatments or cure. They include Creutzfeldt-Jakob disease (CJD) in humans and sheep scrapie, bovine spongiform encephalopathy (BSE) and chronic wasting disease (CWD) in cervids.
Lloyd, Sarah E, Mead, Simon, Collinge, John   +2 more
openaire   +3 more sources

Genetics of Parkinson disease [PDF]

NeuroRX, 2004
Parkinson disease (PD) is the second most common neurodegenerative disorder. Recent studies have consistently demonstrated that in some families, disease is attributable to a mutation in a single gene. To date, genetic analyses have detected linkage to six chromosomal regions and have identified three causative genes: PARK1 (alpha-synuclein), PARK2 ...
Nathan, Pankratz, Tatiana, Foroud
openaire   +4 more sources

Ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşleri

Adıyaman Üniversitesi Sağlık Bilimleri Dergisi, 2022
Amaç: Araştırma, ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşlerini belirlemek amacıyla yapılmıştır.Gereç ve Yöntem: Araştırma 1 Aralık-31 Mayıs 2017 tarihleri arasında, tanımlayıcı tipte, 10 fakülte ...
Rukiye Demir, Ayden Çoban, Ayten Taşpınar   +2 more
doaj   +1 more source

The Genetics of Alzheimer’s Disease [PDF]

Scientifica, 2012
Alzheimer’s disease is a progressive, neurodegenerative disease that represents a growing global health crisis. Two major forms of the disease exist: early onset (familial) and late onset (sporadic). Early onset Alzheimer’s is rare, accounting for less than 5% of disease burden.
openaire   +3 more sources

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

Advances in related research about hereditary connective tissue diseases and the occurrence and rupture of intracranial aneurysm

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
doaj  

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

Genetics of coeliac disease [PDF]

QJM, 1996
Coeliac disease is one of the most common gastrointestinal disorders. The clinical features of the disease are protean, possibly due to heterogeneity. A familial basis for coeliac disease is well recognized, and although a strong HLA association is seen, this cannot entirely account for the increased risk seen in relatives of affected cases. A gene (or
R S, Houlston, D, Ford
openaire   +2 more sources

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source