The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
The objective of this study was to explore the influence of t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Amira Ahmed Elfituri, Manuel Joaqu ín De Nova and Mohammadamin Najirad Tags: Research Source Type: research
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried and Kathryn M. Dahir Tags: Research Source Type: research
Patients ’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 8, 2024 Category: Internal Medicine Authors: Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder and Hagen Sjard Bachmann Tags: Research Source Type: research
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
This study aims to analyze the genetic and clinical charact... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi & hellip; Tags: Research Source Type: research
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-bra... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt and Yuji Sato Tags: Research Source Type: research
Adherence to medical treatment for Wilson ’s disease in children and adolescents: a cohort study from Turkey
This study aimed to assess medication adherence and demographic, clinical, and psychopathological parameters such as quality of life, depression, and anxiety levels that can affect pediatrics with Wilson ’s Dis... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Mehmet Akif G öktaş and Nadir Yalcin Tags: Research Source Type: research
Crigler-Najjar syndrome: looking to the future does not make us forget the present
Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-ter... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 7, 2024 Category: Internal Medicine Authors: Fabiola Di Dato, Giuseppe D ’Uonno and Raffaele Iorio Tags: Letter to the Editor Source Type: research
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSN... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 6, 2024 Category: Internal Medicine Authors: Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu and Ningdong Li Tags: Research Source Type: research
Hemodynamic changes and perinatal outcome associated with umbilical artery thrombosis: a retrospective study
Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterine growth restriction (IUGR) and intrauterine asphyxia have been reported by some case s... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 5, 2024 Category: Internal Medicine Authors: Peng Tu, Xiaohang Zhang, Chunyan Zhong, Qian Ran and Suzhen Ran Tags: Research Source Type: research
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study ’s purpose was to measure the r... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 4, 2024 Category: Internal Medicine Authors: Joana Poejo, Ana Isabel Gomes, Pedro Granjo and Vanessa dos Reis Ferreira Tags: Research Source Type: research
The health-care utilization and economic burden in patients with genetic skeletal disorders
Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatment methods. However, its impacts on health system have not been well studied. The stud... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 4, 2024 Category: Internal Medicine Authors: Luna Liu, Yingzhou Shi, Xiude Fan, Yangyang Yao, Wanhong Wu, Yang Tian, Huixiao Wu, Zongyue Li, Yanzhou Wang and Chao Xu Tags: Research Source Type: research
Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations
The conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare condition is variable, but may be very small and unfortunately statistical... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 2, 2024 Category: Internal Medicine Authors: Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout Tags: Position statement Source Type: research
Increased prevalence of peripheral vestibular disorder among patients with Fabry disease
Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 2, 2024 Category: Internal Medicine Authors: Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen and Herng-Ching Lin Tags: Research Source Type: research
Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, card... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2024 Category: Internal Medicine Authors: Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone and Antonella Lo Mauro Tags: Research Source Type: research
Pragmatic skills in people with Williams syndrome: the perception of families
One of the most challenging linguistic areas in people with Williams Syndrome throughout their evolutionary stage is the development of pragmatic skills. The research conducted so far highlights specific probl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 1, 2024 Category: Internal Medicine Authors: Esther Moraleda Sep úlveda and Patricia López Resa Tags: Research Source Type: research
