Articles
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Citation: Orphanet Journal of Rare Diseases 2022 17:312
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Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasti...
Citation: Orphanet Journal of Rare Diseases 2022 17:311 -
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder, frequently resulting in acute or subacute severe bilateral central vision loss. Vitamin B12 deficiency is also a known cause ...
Citation: Orphanet Journal of Rare Diseases 2022 17:310 -
Thymectomy in ocular myasthenia gravis—prognosis and risk factors analysis
Several retrospective studies have identified risk factors associated with ocular myasthenia gravis (OMG) generalization in non-surgical patients. However, the outcomes of OMG after thymectomy have not been in...
Citation: Orphanet Journal of Rare Diseases 2022 17:309 -
Incidence of thrombotic microangiopathies in Quebec: insight from a laboratory centralizing ADAMTS-13 testing
Thrombotic microangiopathies (TMA) are serious medical conditions requiring a prompt diagnosis to adapt treatment. The determination of ADAMTS-13 activity enables discriminating thrombotic thrombocytopenic pur...
Citation: Orphanet Journal of Rare Diseases 2022 17:308 -
Clinical characteristics and therapeutic response of immunoglobulin G4-related disease: a retrospective study of 127 Chinese patients
Immunoglobulin G4-related disease (IgG4-RD) is a multisystem fibroinflammatory condition. The aim of the present study was to characterize the clinical features and therapeutic response of patients with IgG4-R...
Citation: Orphanet Journal of Rare Diseases 2022 17:307 -
Fatal systemic disorder caused by biallelic variants in FARSA
Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthe...
Citation: Orphanet Journal of Rare Diseases 2022 17:306 -
Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3
The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic diso...
Citation: Orphanet Journal of Rare Diseases 2022 17:305 -
Natural history of Myhre syndrome
Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains inco...
Citation: Orphanet Journal of Rare Diseases 2022 17:304 -
Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective
Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the contin...
Citation: Orphanet Journal of Rare Diseases 2022 17:303 -
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatr...
Citation: Orphanet Journal of Rare Diseases 2022 17:302 -
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia
SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive spasticity and weakness. Severe cognitive symp...
Citation: Orphanet Journal of Rare Diseases 2022 17:301 -
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of ...
Citation: Orphanet Journal of Rare Diseases 2022 17:300 -
Lifecycle management of orphan drugs approved in Japan
The development of orphan drugs (ODs) is challenging from both development and business perspectives because of their small patient populations. To overcome such business challenges, lifecycle management (LCM)...
Citation: Orphanet Journal of Rare Diseases 2022 17:299 -
Health-related quality of life of X-linked hypophosphatemia in Spain
Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic ...
Citation: Orphanet Journal of Rare Diseases 2022 17:298 -
Use of the bibliometric in rare diseases: taking Wilson disease personally
Bibliometric have been widely applied to the evaluation of academic productivity. However, those of individuals or institutions on a specific disease have not been explored. The aim of the present study is to ...
Citation: Orphanet Journal of Rare Diseases 2022 17:297 -
Adjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study
In patients with mucopolysaccharidosis (MPS), systematic assessment and management of cervical instability, cervicomedullary and thoracolumbar junction spinal stenosis and spinal cord compression averts or arr...
Citation: Orphanet Journal of Rare Diseases 2022 17:296 -
Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome
Systemic mastocytosis is a rare genetic disease characterized by aberrant proliferation and/or activation of mast cells, resulting in multi-organ, allergy-like symptoms. Mast cell activation syndrome (MCAS) is...
Citation: Orphanet Journal of Rare Diseases 2022 17:295 -
Current status and trend of clinical development of orphan drugs in China
Rare diseases have been increasingly recognized as unmet medical and health needs worldwide; a growing demand for the development of orphan drugs emerges subsequently. Therefore, it is of great interest for bo...
Citation: Orphanet Journal of Rare Diseases 2022 17:294 -
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
Achondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary...
Citation: Orphanet Journal of Rare Diseases 2022 17:293 -
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review
Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies...
Citation: Orphanet Journal of Rare Diseases 2022 17:292 -
Autophagy-lysosome pathway alteration in ocular surface manifestations in Fabry disease patients
Fabry disease (FD) is a rare X-linked, lysosomal storage disorder caused by mutations in the alpha-galactosidase gene and characterized by neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and...
Citation: Orphanet Journal of Rare Diseases 2022 17:291 -
Clusters of clinical and immunologic features in patients with bullous systemic lupus erythematosus: experience from a single-center cohort study in China
Bullous systemic lupus erythematosus (BSLE) is a rare subtype of systemic lupus erythematosus (SLE) that is clinically characterized by subepidermal tense vesicles or bullae. We aimed to investigate the clinic...
Citation: Orphanet Journal of Rare Diseases 2022 17:290 -
Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease
No results of controlled trials are available for any of the few treatments offered to children with interstitial lung diseases (chILD). We evaluated hydroxychloroquine (HCQ) in a phase 2, prospective, multice...
Citation: Orphanet Journal of Rare Diseases 2022 17:289 -
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China
To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC).
Citation: Orphanet Journal of Rare Diseases 2022 17:288 -
Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature
Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, heari...
Citation: Orphanet Journal of Rare Diseases 2022 17:287 -
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clin...
Citation: Orphanet Journal of Rare Diseases 2022 17:286 -
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients w...
Citation: Orphanet Journal of Rare Diseases 2022 17:285 -
International registry of congenital porto-systemic shunts: a multi-centre, retrospective and prospective registry of neonates, children and adults with congenital porto-systemic shunts
Congenital portosystemic shunts (CPSS) are rare vascular malformations associated with the risk of life-threatening systemic conditions, which remain underdiagnosed and often are identified after considerable ...
Citation: Orphanet Journal of Rare Diseases 2022 17:284 -
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about...
Citation: Orphanet Journal of Rare Diseases 2022 17:283 -
Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic t...
Citation: Orphanet Journal of Rare Diseases 2022 17:282 -
Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT
Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients’ daily lives. To date, no scale has been validated to asses...
Citation: Orphanet Journal of Rare Diseases 2022 17:281 -
Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan
Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder that adversely affects life expectancy and health-related quality of life (HRQOL). Although HRQOL questionnaires are available for...
Citation: Orphanet Journal of Rare Diseases 2022 17:280 -
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy
Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the ro...
Citation: Orphanet Journal of Rare Diseases 2022 17:279 -
Global epidemiology of amyloid light-chain amyloidosis
Amyloid light-chain (AL) amyloidosis is an ultra-rare disease associated with significant morbidity and mortality. Few studies have examined the global epidemiology of this condition.
Citation: Orphanet Journal of Rare Diseases 2022 17:278 -
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry
The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replaceme...
Citation: Orphanet Journal of Rare Diseases 2022 17:277 -
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany
The oral, selective SMN2-splicing modifier risdiplam obtained European approval in March 2021 for the treatment of patients ≥ 2 months old with a clinical diagnosis of 5q-associated spinal muscular atrophy (SMA) ...
Citation: Orphanet Journal of Rare Diseases 2022 17:276 -
RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
Secreted R-spondin (RSPO) proteins play a key role in reproductive organ development, epithelial stem cell renewal and cancer induction by reinforcing canonical Wnt signaling. We have previously reported that ...
Citation: Orphanet Journal of Rare Diseases 2022 17:275 -
Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs
Spinal muscular atrophy (SMA) is a rare degenerative neuromuscular disease, mostly occurring in infants and children, leading to muscle wasting and weakness, and premature death. Due to new developments of mul...
Citation: Orphanet Journal of Rare Diseases 2022 17:274 -
Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)
Hearing loss (HL) has been sporadically described, but not well characterized, in Generalized Arterial Calcification of Infancy (GACI), a rare disease in which pathological calcification typically presents in ...
Citation: Orphanet Journal of Rare Diseases 2022 17:273 -
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy
Valosin containing protein (VCP) is an important protein with many vital functions mostly related to the ubiquitin–proteasome system that provides protein quality control. VCP-associated inclusion body myopath...
Citation: Orphanet Journal of Rare Diseases 2022 17:272 -
Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives
Complex vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Patients with complex VMs experience misdiagnosis, delayed diagnosis...
Citation: Orphanet Journal of Rare Diseases 2022 17:271 -
A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex
Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-rela...
Citation: Orphanet Journal of Rare Diseases 2022 17:270 -
Langerhans cell histiocytosis in adolescent patients: a single-centre retrospective study
Langerhans cell histiocytosis (LCH) is a myeloid dendritic cell disorder frequently affecting children more than adults. The presentation of LCH varies with age, however, the clinical characteristics and genet...
Citation: Orphanet Journal of Rare Diseases 2022 17:268 -
Seminal plasma metabolomics and lipidomics profiling to identify signatures of pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome (PSIS) is a rare disease caused by congenital pituitary anatomical defects. The underlying mechanisms remain unclear, and the diagnosis is difficult. Here, integrated meta...
Citation: Orphanet Journal of Rare Diseases 2022 17:267 -
Burden associated with Fabry disease and its treatment in 12–15 year olds: results from a European survey
Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for h...
Citation: Orphanet Journal of Rare Diseases 2022 17:266 -
Impact of a digital manual for guidance on malignant hyperthermia: patient education
Malignant hyperthermia (MH) is a rare, hereditary disease with a hypermetabolic response to volatile anesthetics/succinylcholine. Susceptible patients face difficulties due to a lack of knowledge about MH. As ...
Citation: Orphanet Journal of Rare Diseases 2022 17:265 -
The association between vitamin D levels and oxidative stress markers in Egyptian Behcet’s disease patients
Oxidative stress is postulated to have a major role in the pathophysiology of Bechet’s Disease (BD). Growing evidence suggests that vitamin D has important roles in enhancing the expression of anti-inflammator...
Citation: Orphanet Journal of Rare Diseases 2022 17:264 -
A conceptual disease model for quality of life in mitochondrial disease
Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality of life (QoL). The relationship with biological a...
Citation: Orphanet Journal of Rare Diseases 2022 17:263 -
Clinical manifestation, economic burden, and mortality in patients with transthyretin cardiac amyloidosis
Transthyretin cardiac amyloidosis, also known as transthyretin cardiomyopathy (ATTR-CM) is a poorly-recognized disease with delayed diagnosis and poor prognosis. This nationwide population-based study aimed to...
Citation: Orphanet Journal of Rare Diseases 2022 17:262
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- ISSN: 1750-1172 (electronic)