The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628).... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 20, 2024 Category: Internal Medicine Authors: Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D ’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer and Flo Tags: Research Source Type: research
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the l... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 19, 2024 Category: Internal Medicine Authors: Maria Grazia Cattinari, Menc ía de Lemus and Eduardo Tizzano Tags: Research Source Type: research
Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey
Although individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life threatening and affect multiple body systems; the majority of them have no e... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 19, 2024 Category: Internal Medicine Authors: Jennifer Jones, Marie Cruddas, Amy Simpson, Nick Meade, Daphnee Pushparajah, Michelle Peter and Amy Hunter Tags: Research Source Type: research
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo and Wei Zhang Tags: Research Source Type: research
Epidemiology and economic burden of Von Hippel-Lindau Disease-associated central nervous system hemangioblastomas and pancreatic neuroendocrine tumors in the United States
To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Eric Jonasch, Yan Song, Jonathan Freimark, Richard Berman, Ha Nguyen, James Signorovitch and Murali Sundaram Tags: Research Source Type: research
Incidence and medical costs of lupus in Spanish hospitals: a retrospective database analysis
This study aimed to assess the comorbidity profile, use of healthcare resources and medical costs of patients with systemic lupus erythematosus (SLE) and cutaneous lupus erythematosus (CLE) treated at the hosp... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Josep Darba, Meritxell Ascanio and Ainoa Ag üera Tags: Research Source Type: research
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao and Wenjuan Qiu Tags: Research Source Type: research
Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data
Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD h... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 16, 2024 Category: Internal Medicine Authors: Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani and Gabriel Chodick Tags: Research Source Type: research
Psychotic illness in people with Prader –Willi syndrome: a systematic review of clinical presentation, course and phenomenology
Prader –Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal locus 15q11-13. This absence of expression o... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 15, 2024 Category: Internal Medicine Authors: Lucie C. S. Aman, Suzannah D. Lester, Anthony J. Holland and Paul C. Fletcher Tags: Review Source Type: research
Rare neurodevelopmental conditions and parents ’ mental health – how and when does genetic diagnosis matter?
Parents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health difficulties, which vary between parents and within parents over time. The unde... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 15, 2024 Category: Internal Medicine Authors: Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, David Skuse, Claire Hughes and Kate Baker Tags: Research Source Type: research
Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 liv... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 14, 2024 Category: Internal Medicine Authors: Yannick Moutapam-Ngamby —Adriaansen, François Maillot, François Labarthe and Bertrand Lioger Tags: Review Source Type: research
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 14, 2024 Category: Internal Medicine Authors: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der B Tags: Review Source Type: research
Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses quest... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 14, 2024 Category: Internal Medicine Authors: Antonia Modelhart, Dominique Sturz, Lydia Kremslehner and Barbara Prainsack Tags: Research Source Type: research
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie f ür Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients wit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 13, 2024 Category: Internal Medicine Authors: Holm Graessner, Carola Reinhard, Tobias B äumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Kr Tags: Research Source Type: research
Translating patient needs into medical device development: co-design of a photoprotection visor for Xeroderma Pigmentosum using qualitative interviews
People with Xeroderma Pigmentosum (XP) have a heightened sensitivity to ultraviolet radiation (UVR) and are advised to wear photoprotective clothing including a visor covering the face and neck. Photoprotectiv... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - February 13, 2024 Category: Internal Medicine Authors: Tanya Graham, Sangeeta Sooriah, Yan-Shing Chang, Shaikh Hashimdeen, Turgut Meydan and Patricia Grocott Tags: Research Source Type: research
