Delineating family needs in the transition from hospital to home for children with medical complexity: part 1, a meta-aggregation of qualitative studies
Advances in diagnostic and therapeutic interventions for rare diseases result in greater survival rates, with on the flipside an expanding group of children with medical complexity (CMC). When CMC leave the pr... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 12, 2023 Category: Internal Medicine Authors: L. van de Riet, M. W. Alsem, E. C. van der Leest, F. S. van Etten-Jamaludin, J. M. Maaskant, J. B. M. van Woensel and C. D. van Karnebeek Tags: Review Source Type: research
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study
A systematic literature review on the transition from hospital-to-home (H2H) of families with a child with medical complexity (CMC), resulted in nine overarching themes. These demonstrated common needs and exp... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 12, 2023 Category: Internal Medicine Authors: L. van de Riet, M. W. Alsem, R. S. I. Beijneveld, J. B. M. van Woensel and C. D. van Karnebeek Tags: Research Source Type: research
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)
Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 12, 2023 Category: Internal Medicine Authors: Douwe J. Horsthuis, Sophie Molholm, John J. Foxe and Ana A. Francisco Tags: Research Source Type: research
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance
Gadolinium-enhanced cardiovascular magnetic resonance (CMR) is the most widely used approach for diagnosing myocardial fibrosis with late gadolinium enhancement (LGE) in cardiomyopathy associated with Duchenne... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 11, 2023 Category: Internal Medicine Authors: Zi-qi Zhou, Hua-yan Xu, Hang Fu, Ke Xu, Rong Xu, Xiao-tang Cai and Ying-kun Guo Tags: Research Source Type: research
Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study
Acute hepatic porphyria (AHP) is a family of rare genetic diseases, including acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and delta-aminolevulinic acid dehydratase-deficient p... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 8, 2023 Category: Internal Medicine Authors: Yutaka Horie, Yuka Yasuoka and Tomohide Adachi Tags: Research Source Type: research
Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardiac surgery
This study aimed to investigate the association between preoperative retinal microcirculation eval... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 8, 2023 Category: Internal Medicine Authors: Cong Li, Zhuoting Zhu, Haiyun Yuan, Yijun Hu, Yunlian Xue, Pingting Zhong, Manqing Huang, Yun Ren, Yu Kuang, Xiaomin Zeng, Honghua Yu and Xiaohong Yang Tags: Research Source Type: research
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey
Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 7, 2023 Category: Internal Medicine Authors: Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach and Paola Giunti Tags: Research Source Type: research
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3 β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency. The... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 7, 2023 Category: Internal Medicine Authors: Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Pe ña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Caro Tags: Research Source Type: research
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pom... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 6, 2023 Category: Internal Medicine Authors: Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn and Yin-Hsiu Chien Tags: Research Source Type: research
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but lethal cardiac ion channelopathy. Delayed diagnosis and misdiagnosis remain a matter of concern due to its rarity and insufficient rec... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 5, 2023 Category: Internal Medicine Authors: Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua and Chuan Wang Tags: Review Source Type: research
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
For a variety of reasons, raising a child with 22q11.2DS has significant psychosocial and financial repercussions for the family caregivers. Our aim was to identify and explain the expectations and concerns of... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 4, 2023 Category: Internal Medicine Authors: Dariusz Walkowiak and Jan Domaradzki Tags: Research Source Type: research
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
The randomised double-blinded placebo-controlled EXIST-1 –3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms in patients with tuberous sclerosis comp... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 2, 2023 Category: Internal Medicine Authors: Ine Cockerell, Jakob Christensen, Christina E. Hoei-Hansen, Lotte Holst, Mikkel Grenaa Frederiksen, Aart Imran Issa-Epe, B ård Nedregaard, Ragnar Solhoff, Ketil Heimdal, Cecilie Johannessen Landmark, Caroline Lund and Terje Nærland Tags: Research Source Type: research
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial
Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-co... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 2, 2023 Category: Internal Medicine Authors: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Tags: Research Source Type: research
The improvement of motor symptoms in Huntington ’s disease during cariprazine treatment
Huntington ’s disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms. Motor symptoms are the hallmark features of HD and take man... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 1, 2023 Category: Internal Medicine Authors: Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth and Maria Judit Molnar Tags: Research Source Type: research
Using theory of change to co-create a programme theory for a telerehabilitation intervention for pain management in people with haemophilia
Improved approaches for chronic pain management are a clinical and research priority for people with haemophilia (PWH). Involving people with lived experience in the design of a complex rehabilitation interven... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - December 1, 2023 Category: Internal Medicine Authors: Paul McLaughlin, Michael Hurley, Pratima Chowdary, Kate Khair, Clive Smith and David Stephensen Tags: Research Source Type: research
