Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna'a, Rawda Sunbul, Maha Faden
BACKGROUND: Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating clinical manifestations. These conditions are thought to have higher-than-average prevalence rates in Saudi Arabia due to high rates of consanguineous marriage in the country. There are several unmet needs associated with the management of these diseases in Saudi Arabia...
July 17, 2024: Orphanet Journal of Rare Diseases
Joshua L Bonkowsky, Bridget Healey, Naomi C Sacks, Ronaé McLin, Philip L Cyr, Eileen K Sawyer, Christopher D Stephen, Florian Eichler
BACKGROUND: Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We conducted a retrospective cohort study using two large administrative databases to characterize mortality and the burden of illness in adult men with AMN in the US. RESULTS: Healthcare resource use was assessed using a national commercial insurance claims database (2006-2021)...
July 17, 2024: Orphanet Journal of Rare Diseases
Justyna Spychalska, Magdalena Duńska, Anna Myślińska, Monika Majewska-Wierzbicka, Edyta Klimczak-Jajor, Eliza Głodkowska-Mrówka
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell disorder characterized by PIG-A mutations, leading to glycophosphatidylinositol (GPI)-anchored proteins deficiency that triggers hemolysis - a hallmark of the disease. PNH diagnostics is based on high-sensitivity multicolor flow cytometry (MFC), enabling to detect even small populations of PNH cells. In this single-center, retrospective study, we aimed to characterize a cohort of PNH clone-positive patients first time screened from January 1st, 2013 until December 31st, 2022 with MFC according to International Clinical Cytometry Society PNH Consensus Guidelines...
July 17, 2024: Orphanet Journal of Rare Diseases
Ibraheem Al-Dhamari, Hammam Abu Attieh, Fabian Prasser
BACKGROUND: Globally, researchers are working on projects aiming to enhance the availability of data for rare disease research. While data sharing remains critical, developing suitable methods is challenging due to the specific sensitivity and uniqueness of rare disease data. This creates a dilemma, as there is a lack of both methods and necessary data to create appropriate approaches initially. This work contributes to bridging this gap by providing synthetic datasets that can form the foundation for such developments...
July 15, 2024: Orphanet Journal of Rare Diseases
Yuying Zhao, Xiaolin Yu, Duoling Li, Jingzhen He, Yuzhi Li, Bin Zhang, Na Zhang, Qian Wang, Chuanzhu Yan
BACKGROUND: Late-onset Pompe disease (LOPD) is mainly characterized by progressive limb-girdle muscle weakness and respiratory impairment, whereas stroke and cerebrovascular abnormalities have been insufficiently studied in LOPD. This study aimed to evaluate the frequency and pattern of intracranial artery and brain parenchyma abnormalities in LOPD patients. RESULTS: Neuroimaging data from 30 Chinese adult LOPD patients were collected from our center. Seven patients (7/30) had acute cerebral infarction or hemorrhage...
July 15, 2024: Orphanet Journal of Rare Diseases
Chanyan Huang, Yuanjia Zhang, Daniel A Diedrich, Jiawen Li, Wei Luo, Xu Zhao, Yuting Guo, Yijun Luo, Tao Zhang, Xuan Wang, Wenqi Huang, Ying Xiao
BACKGROUND: Lumbar puncture is challenging for patients with scoliosis. Previous ultrasound-assisted techniques for lumbar puncture used the angle of the probe as the needle trajectory; however, reproducing the angle is difficult and increases the number of needle manipulations. In response, we developed a technique that eliminated both the craniocaudal and lateromedial angulation of the needle trajectory to overall improve this technique. We assessed the feasibility and safety of this method in patients with scoliosis and identify factors related to difficult lumbar puncture...
July 15, 2024: Orphanet Journal of Rare Diseases
Tianrui Hua, Juan Du, Xiaoxiao Guo, Linyi Peng, Jiaxin Zhou, Yuxue Nie, Dafu Man, Mengtao Li, Lili Pan, Wen Zhang
BACKGROUND: The heart can be involved in immunoglobulin (Ig)-G4-related disease (IgG4-RD). This study aimed to summarize the clinical features and efficacy of treatment for IgG4-RD patients with heart involvement. METHODS: We conducted a retrospective study enrolling 42 IgG4-RD patients with heart involvement from the IgG4-RD cohorts of the Peking Union Medical College Hospital and Beijing An Zhen Hospital, from 2010 to 2022. Clinical, laboratory, radiological data were collected, and treatment responses to glucocorticoids and immunosuppressants were analyzed...
July 15, 2024: Orphanet Journal of Rare Diseases
Federica Alice Maria Montanaro, Paolo Alfieri, Cristina Caciolo, Alessia Brunetti, Alessandra Airoldi, Anna de Florio, Luigi Tinella, Andrea Bosco, Stefano Vicari
BACKGROUND AND OBJECTIVES: Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression. Espansion between 55 and 200 triplets fall within the premutation range (PM) and can lead to different clinical conditions, including fragile X- primary ovarian insufficiency (FXPOI), fragile X-associated neuropsychiatric disorders (FXAND) and fragile X-associated tremor/ataxia syndrome (FXTAS)...
July 12, 2024: Orphanet Journal of Rare Diseases
Nivedita Patni, Craig Chard, David Araújo-Vilar, Helen Phillips, David A Magee, Baris Akinci
BACKGROUND: Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences and challenges faced by physicians who have seen and treated patients with lipodystrophy. This study aimed to provide a better understanding of the physician's perspective regarding the patient journey in lipodystrophy, including diagnosis, the burden of disease, and treatment approaches...
July 11, 2024: Orphanet Journal of Rare Diseases
T L Klein, J Bender, S Bolton, T Collin-Histed, A Daher, L De Baere, D Dong, J Hopkin, J Johnson, T Lai, M Pavlou, T Schaller, I Žnidar
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in long diagnostic journeys and inadequate care. Over 30 years ago, the Rare Disease Registries for Gaucher, Fabry, Mucopolysaccharidosis type I and Pompe diseases were established to address knowledge gaps in disease natural history, clinical manifestations of disease and treatment outcomes...
July 10, 2024: Orphanet Journal of Rare Diseases
Maria Judit Molnar, Léna Szabó, Oana Aurelia Vladacenco, Ana Maria Cobzaru, Talya Dor, Amir Dori, Georgios Papadimas, Lenka Juříková, Ivan Litvinenko, Ivailo Tournev, Craig Dixon
PURPOSE: An increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying treatments, which improve the clinical course of DMD and extend life expectancy beyond 30 years of age. A key issue for adolescent DMD patients is the transition from paediatric- to adult-oriented healthcare. Adolescents and adults with DMD have unique but highly complex healthcare needs associated with long-term steroid use, orthopaedic, respiratory, cardiac, psychological, and gastrointestinal problems meaning that a comprehensive transition process is required...
July 9, 2024: Orphanet Journal of Rare Diseases
Eun Joo Lee, Min Hyung Woo, Jin Soo Moon, Jae Sung Ko
OBJECTIVES: Wilson disease (WD) is a rare genetic disease affecting copper metabolism and the biliary tract's copper excretion. Lifelong medication is necessary to prevent liver failure, neurological complications, and death. Although D-penicillamine (DPA), trientine, and zinc are used to treat WD, there is limited research on the long-term outcomes of these drugs, especially in children. This study aimed to evaluate the efficacy and safety of DPA, trientine, and zinc in patients diagnosed with WD during childhood...
July 9, 2024: Orphanet Journal of Rare Diseases
Weinstein DA, Jackson Rj, Brennan Ea, Williams M, Davison Je, de Boer F, Derks Tgj, Ellerton C, Faragher B, Gribben J, Labrune P, McKittrick Km, Murphy E, Ross Km, Steuerwald U, Voillot C, Woodward Ajm, Mundy Hr
BACKGROUND: Hypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade® , an extended-release waxy maize cornstarch, was reported as an alternative to uncooked cornstarch (UCCS) which could prolong the duration of fasting in the GSD population. To date, there has been minimal published experience in (a) young children, (b) the ketotic forms of GSD, and (c) with daytime dosing. The Glyde study was created as a prospective, global initiative to test the efficacy and tolerance of Glycosade use across a broader and more diverse population...
July 9, 2024: Orphanet Journal of Rare Diseases
Max J Hilz, Nicole Lyn, Felix Marczykowski, Barbara Werner, Marc Pignot, Elvira Ponce, Joseph Bender, Michael Edigkaufer, Pronabesh DasMahapatra
BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase A, resulting in lysosomal accumulation of globotriaosylceramide and other glycosphingolipids. Early detection of FD is challenging, accounting for delayed diagnosis and treatment initiation. This study aimed to develop an algorithm using a logistic regression model to facilitate early identification of patients based on ICD-10-GM coding using a German Sickness Fund Database...
July 9, 2024: Orphanet Journal of Rare Diseases
Cyrille Hoarau, Alireza Maleki, Laurence Bouillet, Isabelle Boccon-Gibod
BACKGROUND: Hereditary angioedema (HAE) is a rare and potentially life-threatening disease that manifests clinically as recurrent episodes of swelling affecting multiple anatomical locations. Long-term prophylaxis (LTP) aims to control the disease by preventing HAE attacks. Previously, treatments such as attenuated androgens have been used for LTP, but they have an unfavorable adverse effect profile. Today, these limitations may be overcome by patients transitioning to newer, targeted therapies including oral berotralstat and subcutaneous lanadelumab...
July 9, 2024: Orphanet Journal of Rare Diseases
Xin Guan, Yanan Sheng, Shuang Liu, Miao He, Tianxiang Chen, Yuxiang Zhi
BACKGROUND: This systematic study aims to assess the global epidemiologic, economic, and humanistic burden of illness associated with all types of hereditary angioedema. METHODS: A systematic search for articles reporting the epidemiologic, economic, and humanistic burden associated with patients with HAE was conducted using English and Chinese literature databases from the inception to May 23, 2022. The selected studies were assessed for their quality and risk of bias...
July 8, 2024: Orphanet Journal of Rare Diseases
Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes
BACKGROUND: The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, emphasizing the need to understand and address the distinctive healthcare requirements of those affected. This paper examines the multifaceted issue of health service access and caregivers' quality of life in the context of 22q11.2 DS in Brazil, a condition with diverse signs and symptoms requiring multidisciplinary care...
July 6, 2024: Orphanet Journal of Rare Diseases
Cécile Bardon, Marie-Éve Rioux, Mélina Rivard, Floryana-Maria Viquez Porras, Julie Zaky
BACKGROUND: Patients living with various rare or orphan diseases (ROD) experience common psychosocial difficulties. Those need emerge from a combination of factors, such as the large variety of patients and the rarity of resources, as well as concentrated efforts on physical health needs that yielded increases in life expectancy and quality in patients. A gap is therefore rising in the consideration of psychosocial needs of patients, such as coping with the impacts of physical limitations, reducing social isolation and distress...
July 5, 2024: Orphanet Journal of Rare Diseases
Wei Wang, Ting Yang, Qinghua Huang
PURPOSE: To evaluate the available evidence regarding the quality of life (QoL) in patients with acromegaly, by synthesizing the psychosocial factors of QoL, QoL measures, and complementary interventions targeting QoL. METHODS: A scoping review was conducted using the PRISMA-ScR guideline. We searched six English databases (PubMed, Embase, CINAHL, Scopus, Web of Science, and the Cochrane Library) from the inception to August 21, 2023. We included observational studies involving psychosocial factors and complementary interventions targeting QoL (concept) in patients with acromegaly (population) in any setting (context)...
July 4, 2024: Orphanet Journal of Rare Diseases
Alexandra Stewart, Roganie Govender, Simon Eaton, Christina H Smith, Paolo De Coppi, Jo Wray
INTRODUCTION: Eating, drinking and swallowing difficulties are commonly reported morbidities for individuals born with OA/TOF. This study aimed to determine the nature and prevalence of eating, drinking and oro-pharyngeal swallowing difficulties reported in this population. METHOD: A systematic review and meta-proportional analysis were conducted (PROSPERO: CRD42020207263). MEDLINE, EMBASE, CINAHL, Pubmed, Scopus, Web of Science databases and grey literature were searched...
July 4, 2024: Orphanet Journal of Rare Diseases
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