Articles
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Citation: Orphanet Journal of Rare Diseases 2023 18(Suppl 2):333
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Cost of illness in inclusion body myositis: results from a cross-sectional study in Germany
Inclusion body myositis (IBM) is the most frequent type of myositis in elder patients with a slow chronic progression and refractory to treatment. Previous cost of illness (COI) studies in IBM used claims data...
Citation: Orphanet Journal of Rare Diseases 2023 18:337 -
Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China
Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonog...
Citation: Orphanet Journal of Rare Diseases 2023 18:336 -
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome
22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes includi...
Citation: Orphanet Journal of Rare Diseases 2023 18:335 -
Prognostic factors for the long term outcome after surgical celiac artery decompression in MALS
The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic cel...
Citation: Orphanet Journal of Rare Diseases 2023 18:334 -
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study
Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD).
Citation: Orphanet Journal of Rare Diseases 2023 18:332 -
Correction: Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
Citation: Orphanet Journal of Rare Diseases 2023 18:331 -
Does the registry speak your language? A case study of the Global Angelman Syndrome Registry
Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible...
Citation: Orphanet Journal of Rare Diseases 2023 18:330 -
Congenital disorders of glycosylation (CDG): state of the art in 2022
Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that...
Citation: Orphanet Journal of Rare Diseases 2023 18:329 -
Patient pathways for rare diseases in Europe: ataxia as an example
Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them. This study explored the patient pathways of individuals attending spec...
Citation: Orphanet Journal of Rare Diseases 2023 18:328 -
Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility
The purpose of this study was twofold: (i) To assess the parents’ experiences and perception of participating in a “Parental Intervention Program for Preschool children with Rare Diseases” (PIPP-RDs). (ii) To ...
Citation: Orphanet Journal of Rare Diseases 2023 18:327 -
First-line nivolumab plus ipilimumab for unresectable MPM in China: a cost-effectiveness analysis
The regimen of nivolumab plus ipilimumab (NI) has been recommended by the National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology-Malignant Pleural Mesothelioma (Version 1.2022) and Chin...
Citation: Orphanet Journal of Rare Diseases 2023 18:326 -
Current trials in erythropoietic protoporphyria: are placebo controls ethical?
A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and...
Citation: Orphanet Journal of Rare Diseases 2023 18:325 -
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases
In the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 30 million people in the E...
Citation: Orphanet Journal of Rare Diseases 2023 18:324 -
Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients present with diverse symptoms related to sensory, motor, and...
Citation: Orphanet Journal of Rare Diseases 2023 18:323 -
Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease
Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardio...
Citation: Orphanet Journal of Rare Diseases 2023 18:322 -
Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores
Generalized pairwise comparisons (GPC) can be used to assess the net benefit of new treatments for rare diseases. We show the potential of GPC through simulations based on data from a natural history study in ...
Citation: Orphanet Journal of Rare Diseases 2023 18:321 -
The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data
Mitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial disease is associated with morbidity and mortality, with predominantl...
Citation: Orphanet Journal of Rare Diseases 2023 18:320 -
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up
In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6–70.5 years) improved endurance, muscle strength and function. Data on long-term effects...
Citation: Orphanet Journal of Rare Diseases 2023 18:319 -
Retraction Note: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing
Citation: Orphanet Journal of Rare Diseases 2023 18:318 -
A pilot study: handgrip as a predictor in the disease progression of SCA3
Spinocerebellar ataxia type 3 (SCA3) is an inherited, autosomal, and rare neurodegenerative disease. Serum/plasma biomarkers or functional magnetic resonance imaging used to assess progression, except for neur...
Citation: Orphanet Journal of Rare Diseases 2023 18:317 -
Symptoms and impacts of familial chylomicronemia syndrome: a qualitative study of the patient experience
Familial chylomicronemia syndrome (FCS) is a rare, hereditary, metabolic disorder. FCS causes high levels of triglycerides in the blood, which can lead to abdominal pain, xanthomas, and acute pancreatitis (AP)...
Citation: Orphanet Journal of Rare Diseases 2023 18:316 -
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly establi...
Citation: Orphanet Journal of Rare Diseases 2023 18:315 -
Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers
The goal of this study was to evaluate macular microvascular changes in patients with Fabry disease (FD) using optical coherence tomography angiography (OCTA) and to explore their correlation with laboratory a...
Citation: Orphanet Journal of Rare Diseases 2023 18:314 -
Supporting patients in the transition to the revised pexidartinib dosing regimen: perspectives from the multidisciplinary clinical and allied health professional team
Pexidartinib is a colony-stimulating factor-1 receptor inhibitor approved in the United States for treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbi...
Citation: Orphanet Journal of Rare Diseases 2023 18:313 -
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective
Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] ≤ 3.0), low circulating concentrations of IGF-I ...
Citation: Orphanet Journal of Rare Diseases 2023 18:312 -
Growth patterns of young achondroplasia patients in Korea and predictability of neurosurgical procedures
Achondroplasia is an autosomal dominant disorder mainly affecting bony growth, typically resulting in markedly short stature. From a neurosurgical viewpoint, patients sometimes develop spinal cord compression ...
Citation: Orphanet Journal of Rare Diseases 2023 18:311 -
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Following the reverse genetics strategy developed in the 1980s to pioneer the identification of disease genes, genome(s) sequencing has opened the era of genomics medicine. The human genome project has led to ...
Citation: Orphanet Journal of Rare Diseases 2023 18:310 -
Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants as r...
Citation: Orphanet Journal of Rare Diseases 2023 18:309 -
Small intestinal mucosal abnormalities using video capsule endoscopy in intestinal lymphangiectasia
Intestinal lymphangiectasia (IL) is a rare protein-losing enteropathy caused by disorders of the intestinal lymphatics. There are only a few case reports and case series concerning the VCE (video capsule endos...
Citation: Orphanet Journal of Rare Diseases 2023 18:308 -
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by pathogenic variants in more than 400 genes. The impl...
Citation: Orphanet Journal of Rare Diseases 2023 18:307 -
Late-onset cblC defect: clinical, biochemical and molecular analysis
cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical chara...
Citation: Orphanet Journal of Rare Diseases 2023 18:306 -
Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome.
Citation: Orphanet Journal of Rare Diseases 2023 18:305 -
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis m...
Citation: Orphanet Journal of Rare Diseases 2023 18:304 -
Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science
The aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general information, research hotspots, frontiers and future trends in the fiel...
Citation: Orphanet Journal of Rare Diseases 2023 18:303 -
Low-dose anti-IL 5 treatment in idiopathic hypereosinophilic syndrome: towards a precision medicine approach for remission maintenance
Mepolizumab at the dose of 300 mg/4 weeks has been recently approved as an add-on therapy for patients with uncontrolled hypereosinophilic syndrome (HES) without any identifiable non-hematologic secondary caus...
Citation: Orphanet Journal of Rare Diseases 2023 18:302 -
Integrative rare disease biomedical profile based network supporting drug repurposing or repositioning, a case study of glioblastoma
Glioblastoma (GBM) is the most aggressive and common malignant primary brain tumor; however, treatment remains a significant challenge. This study aims to identify drug repurposing or repositioning candidates ...
Citation: Orphanet Journal of Rare Diseases 2023 18:301 -
Health-related quality of life in a european sample of adults with early-treated classical PKU
Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated class...
Citation: Orphanet Journal of Rare Diseases 2023 18:300 -
Innovative thinking of clinical investigation for rare disease drug development
For the development of a test treatment or drug product, it is necessary to conduct composite hypothesis testing to test for effectiveness and safety simultaneously, since some approved drug products have been...
Citation: Orphanet Journal of Rare Diseases 2023 18:299 -
Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders
To describe Niemann-Pick type C (NP-C) behavioral symptoms (focusing on psychotic symptoms) and its relation to frontal lobe functioning.
Citation: Orphanet Journal of Rare Diseases 2023 18:298 -
Sintilimab treatment for chronic active Epstein–Barr virus infection and Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis in children
Chronic active Epstein–Barr virus infection (CAEBV) and Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) are rare but life-threatening progressive diseases triggered by EBV infection....
Citation: Orphanet Journal of Rare Diseases 2023 18:297 -
Guidance to develop a multidisciplinary, international, pediatric registry: a systematic review
The European Reference Network for craniofacial anomalies and ear, nose and throat disorders (ERN-CRANIO) aims to improve craniofacial care on a European scale. Within ERN-CRANIO, the cleft lip and palate (CL/...
Citation: Orphanet Journal of Rare Diseases 2023 18:296 -
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients
Scoliosis is widely prevalent among osteogenesis imperfecta (OI) patients, and is progressive with age. However, factors affecting scoliosis in OI are not well known.
Citation: Orphanet Journal of Rare Diseases 2023 18:295 -
Prevalence and quality of temporomandibular disorders, chronic pain and psychological distress in patients with classical and hypermobile Ehlers-Danlos syndrome: an exploratory study
The Ehlers-Danlos syndromes are a group of clinically and genetically heterogeneous hereditary diseases affecting the connective tissue. They are characterized by hypermobility of the joints, hyperextensible s...
Citation: Orphanet Journal of Rare Diseases 2023 18:294 -
Changing clinical manifestations of Gaucher disease in Taiwan
Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be class...
Citation: Orphanet Journal of Rare Diseases 2023 18:293 -
Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis
To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2).
Citation: Orphanet Journal of Rare Diseases 2023 18:292 -
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and p...
Citation: Orphanet Journal of Rare Diseases 2023 18:291 -
Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature
An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for various types...
Citation: Orphanet Journal of Rare Diseases 2023 18:290 -
Tafamidis decreased cardiac amyloidosis deposition in patients with Ala97Ser hereditary transthyretin cardiomyopathy: a 12-month follow-up cohort study
Transthyretin cardiac cardiomyopathy (ATTR-CM) is a rare but life-threatening disease. Tafamidis is an effective treatment for patients with ATTR-CM, however its long-term effects on cardiac remodeling and car...
Citation: Orphanet Journal of Rare Diseases 2023 18:289 -
Symptoms of SARS-CoV-2 infection and vaccine status of sixty-seven adult patients affected by inherited metabolic diseases: a phone survey
The Covid pandemic seems to have had several detrimental effects on managing patients affected by inherited metabolic diseases (IMD), although published data about the impact of COVID-19 on patients suffering ...
Citation: Orphanet Journal of Rare Diseases 2023 18:286
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- ISSN: 1750-1172 (electronic)