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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

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

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  

Health‐Related Social Needs in Children With Sickle Cell Disease Are Associated With Worse Health‐Related Quality of Life

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks, Molly Sonenklar, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler   +5 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

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]

Childhood Kidney Diseases
With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
doaj   +1 more source