Results 1 to 10 of about 3,489,004 (303)

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

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

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

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

Children with a rare congenital genetic disorder: a systematic review of parent experiences

Orphanet Journal of Rare Diseases, 2022
Background Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis.
Charlotte von der Lippe, Ingrid Neteland, Kristin Billaud Feragen   +2 more
doaj   +1 more source

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion

Behavioral and Brain Functions, 2018
Background The etiology of autism spectrum disorders (ASD) is very heterogeneous. Mitochondrial dysfunction has been described in ASD; however, primary mitochondrial disease has been genetically proven in a small subset of patients.
Noémi Ágnes Varga, Klára Pentelényi, Péter Balicza, András Gézsi, Viktória Reményi, Vivien Hársfalvi, Renáta Bencsik, Anett Illés, Csilla Prekop, Mária Judit Molnár   +9 more
doaj   +1 more source

Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL)

Journal of Patient-Reported Outcomes, 2019
Background Common variable immunodeficiency (CVID) and other primary antibody deficiencies (PAD) are a heterogeneous group of > 300 congenital disorders affecting the immune system.
Jintana B. Andersen, Knut Midttun, Kristin J. B. Feragen   +2 more
doaj   +1 more source

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials

Frontiers in Genetics, 2019
The genetic analysis of early-onset Parkinsonian disorder (EOPD) is part of the clinical diagnostics. Several genes have been implicated in the genetic background of Parkinsonism, which is clinically indistinguishable from idiopathic Parkinson’s disease.
Anett Illés, Dóra Csabán, Zoltán Grosz, Péter Balicza, András Gézsi, Viktor Molnár, Renáta Bencsik, Anikó Gál, Péter Klivényi, Maria Judit Molnar   +9 more
doaj   +1 more source

Longitudinal evolution of sleep disturbances in early multiple system atrophy: a 2‐year prospective cohort study

BMC Medicine, 2023
Background The progression of sleep disturbances remains unclear in patients with early multiple system atrophy (MSA). We aimed to explore the frequency, severity, and coexistence of 2-year longitudinal changes of sleep disturbances including REM sleep ...
Lingyu Zhang, Yanbing Hou, Chunyu Li, Qianqian Wei, Ruwei Ou, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Bi Zhao, Huifang Shang   +11 more
doaj   +1 more source

Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy

Biomolecules, 2020
Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A (rh-α-Gal A) is the standard treatment for Fabry disease (FD). ERT has shown a significant impact on patients; however, there is still morbidity and mortality in FD, resulting in ...
Margarita M. Ivanova, Julia Dao, Neil Kasaci, Benjamin Adewale, Jacqueline Fikry, Ozlem Goker-Alpan   +5 more
doaj   +1 more source