Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study
Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, an... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 30, 2023 Category: Internal Medicine Authors: Vilma-Lotta Lehtokari, Minna Simil ä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson and Sinikka Hiekkala Tags: Research Source Type: research

Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients
Pseudohypoparathyroidism type 1 (PHP1) is a rare disease featuring hypocalcemia and elevated PTH level. Though disturbed calcium and phosphorus metabolism under PTH resistant have been widely studied, glucolip... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 28, 2023 Category: Internal Medicine Authors: Yi Yang, An Song, Fengying Gong, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang and Hui Pan Tags: Research Source Type: research

Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022
Compassionate use is a system that provides patients with expedited access to drugs which has not yet been approved, but currently in clinical trials. The investigational drugs have been authorized for compass... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 28, 2023 Category: Internal Medicine Authors: Jiayu Wu, Yang Yang, Jiaxin Yu, Luyao Qiao, Wei Zuo and Bo Zhang Tags: Review Source Type: research

Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK
With the first gene therapies for haemophilia approved by the European Commission, the US Food and Drug Administration, and the Medicines and Healthcare products Regulatory Agency, it is important to consider ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 25, 2023 Category: Internal Medicine Authors: Sara Boyce, Simon Fletcher, April Jones, Ruchika Kohli, Sarah Mangles, Min Ong, Debra Pollard, Sujan Sivasubramaniyam, David Stephensen, Nicola Stoner and Rashid Kazmi Tags: Letter to the Editor Source Type: research

Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis
Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging d... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 23, 2023 Category: Internal Medicine Authors: Soho Yoon, Minjee Lee, Hoi-In Jung, M. Mahmud Khan, So-Yoon Kim, Hannah Kim and Sophia Wasti Tags: Research Source Type: research

Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
This study aimed to understand how c... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 23, 2023 Category: Internal Medicine Authors: Holly Walton, Pei Li Ng, Amy Simpson, Lara Bloom, Lyn S. Chitty, Naomi J. Fulop, Amy Hunter, Jennifer Jones, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Kerry Leeson-Beevers, Sharon Parkes, Angus I. G. Ramsay, Alastair Sutcliffe, Christine Taylor & hellip Tags: Research Source Type: research

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
(Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 23, 2023 Category: Internal Medicine Authors: Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi and Amal Al Teneiji Tags: Correction Source Type: research

Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?
The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or high risk organ(s). The nodulo-cystic lung lesions although pathognomonic, yet are very variab... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 17, 2023 Category: Internal Medicine Authors: Mohamed Sedky, Seham Gohar, Sonia Ahmed, Iman Zaky, Asmaa Salama, Omayma Hassanein, Eslam Maher and Alaa ElHaddad Tags: Research Source Type: research

Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 17, 2023 Category: Internal Medicine Authors: Monica Mazzucato, Laura Vison à Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello and Paola Facchin Tags: Research Source Type: research

Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many h... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2023 Category: Internal Medicine Authors: Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben and Jessica L. Fetterman Tags: Letter to the Editor Source Type: research

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients
Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequenc... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2023 Category: Internal Medicine Authors: Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang and Zhi-qiang Wang Tags: Research Source Type: research

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study
Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairme... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2023 Category: Internal Medicine Authors: Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis Gonz ález Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian and Simon A. Jones Tags: Research Source Type: research

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy
Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox bala... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2023 Category: Internal Medicine Authors: Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porc ù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders and Alberto Burlina Tags: Research Source Type: research

Wolfram syndrome type 1: a case series
Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabete... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 16, 2023 Category: Internal Medicine Authors: Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat and Yanying Guo Tags: Research Source Type: research

The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function
Patients with the rare disease; Hereditary haemorrhagic telangiectasia (HHT) often bleed from telangiectatic lesions in mucosal surfaces. Studies suggest that impaired platelet function may also play a role in... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - November 14, 2023 Category: Internal Medicine Authors: Anne L ørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, Christian Nielsen, Bibi Lange, Annette Dam Fialla and Pernille Just Vinholt Tags: Research Source Type: research