Articles
Page 14 of 83
-
Citation: Orphanet Journal of Rare Diseases 2022 17:438
-
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). We report 2-year cum...
Citation: Orphanet Journal of Rare Diseases 2022 17:437 -
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable ...
Citation: Orphanet Journal of Rare Diseases 2022 17:436 -
Identifying adult hypophosphatasia in the rheumatology unit
The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the...
Citation: Orphanet Journal of Rare Diseases 2022 17:435 -
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts
Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one...
Citation: Orphanet Journal of Rare Diseases 2022 17:434 -
Favourable outcome of acute hepatitis E infection in patients with ANCA-associated vasculitis
Hepatitis E virus (HEV) infection is a frequent cause of acute viral hepatitis. Immunocompromised patients are at increased risk for viral infection and chronic courses of hepatitis. Whether patients with auto...
Citation: Orphanet Journal of Rare Diseases 2022 17:433 -
A retrospective study of 18 children with subcutaneous panniculitis-like T-cell lymphoma: multidrug combination chemotherapy or immunomodulatory therapy?
Subcutaneous panniculitis T-cell lymphoma (SPTCL) is a rare, cytotoxic T-cell lymphoma with which some patients have accompanying hemophagocytic syndrome (HPS). There is currently no standard treatment regimen...
Citation: Orphanet Journal of Rare Diseases 2022 17:432 -
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders
Congenital cranial dysinnervation disorders (CCDDs) are a group of diseases with high clinical and genetic heterogeneity. Clinical examinations combined with Magnetic resonance imaging (MRI) and whole exome se...
Citation: Orphanet Journal of Rare Diseases 2022 17:431 -
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based study
Preliminary data suggest that COVID-19 pandemic has generated a switch from face-to-face to remote care for individuals with chronic diseases. However, few data are available for rare and undiagnosed diseases ...
Citation: Orphanet Journal of Rare Diseases 2022 17:430 -
Exploring alternative financing models and early access schemes for orphan drugs: a Belgian case study
Although some jurisdictions have implemented particular adjustments to accommodate often-expensive orphan drugs in their healthcare systems, availability of these drugs remains complex. This study investigates...
Citation: Orphanet Journal of Rare Diseases 2022 17:429 -
Carer burden in rare inherited diseases: a literature review and conceptual model
Carers of people living with rare diseases report heavy burden and a plethora of unmet needs. A previous parental supportive care needs framework has described the needs of parents of children living with rare...
Citation: Orphanet Journal of Rare Diseases 2022 17:428 -
Correction to: Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing
Citation: Orphanet Journal of Rare Diseases 2022 17:427 -
Survey on the management of Pompe disease in routine clinical practice in Spain
Despite the availability of several clinical guidelines, not all health professionals use their recommendations to manage patients with Pompe disease, a rare genetic disorder involving high-impact therapy. Thr...
Citation: Orphanet Journal of Rare Diseases 2022 17:426 -
Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country
Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income...
Citation: Orphanet Journal of Rare Diseases 2022 17:425 -
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransfer...
Citation: Orphanet Journal of Rare Diseases 2022 17:424 -
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may...
Citation: Orphanet Journal of Rare Diseases 2022 17:423 -
Post-transplant cyclophosphamide for GVHD prophylaxis in pediatrics with chronic active Epstein-Barr virus infection after haplo-HSCT
Chronic active Epstein-Barr virus infection (CAEBV) is a rare but life-threatening progressive disease. Human leukocyte antigen (HLA)-haploidentical hematopoietic stem cell transplantation (haplo-HSCT) is the ...
Citation: Orphanet Journal of Rare Diseases 2022 17:422 -
Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases
ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Aut...
Citation: Orphanet Journal of Rare Diseases 2022 17:421 -
Diagnostic delay of myositis: an integrated systematic review
Idiopathic inflammatory myopathies (IIM) are a heterogenous group of rare muscular autoimmune diseases characterised by skeletal muscle inflammation with possible diagnostic delay. Our aim was to review the ex...
Citation: Orphanet Journal of Rare Diseases 2022 17:420 -
A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients
The ATP-binding cassette subfamily B member 4 (ABCB4) gene encodes the hepatic phospholipid transporter. Variants in the ABCB4 gene are associated with various cholestatic phenotypes, some of which progress to li...
Citation: Orphanet Journal of Rare Diseases 2022 17:419 -
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain th...
Citation: Orphanet Journal of Rare Diseases 2022 17:418 -
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for m...
Citation: Orphanet Journal of Rare Diseases 2022 17:417 -
Microbiome insights into pediatric familial adenomatous polyposis
Individuals with familial adenomatous polyposis (FAP) harbor numerous polyps with inevitable early progression to colon cancer. Complex microbiotic-tumor microenvironment perturbations suggest a dysbiotic rela...
Citation: Orphanet Journal of Rare Diseases 2022 17:416 -
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were de...
Citation: Orphanet Journal of Rare Diseases 2022 17:415 -
Fetal umbilical artery thrombosis: prenatal diagnosis, treatment and follow-up
To analyze the ultrasound imaging and clinical characteristics of fetuses with umbilical artery thrombosis (UAT), explore the potential causes of UAT and construct a prognostic prediction model to guide clinic...
Citation: Orphanet Journal of Rare Diseases 2022 17:414 -
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3
Renal hypodysplasia/aplasia-3 (RHDA3), as the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract, is mainly caused by mutations in GREB1L. However, the mutations in GREB1L ide...
Citation: Orphanet Journal of Rare Diseases 2022 17:413 -
Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone
X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol. Beside rickets, ...
Citation: Orphanet Journal of Rare Diseases 2022 17:412 -
Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8mnd mice
CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and prem...
Citation: Orphanet Journal of Rare Diseases 2022 17:411 -
Genetic analysis of 55 cases with fetal skeletal dysplasia
Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatal...
Citation: Orphanet Journal of Rare Diseases 2022 17:410 -
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis
Inherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because gene therapy for RPE65-associated IRDs was recently approved, it is nece...
Citation: Orphanet Journal of Rare Diseases 2022 17:409 -
The actual status of drug prices and adjustment factors for drug price calculation: an analysis of ultra-orphan drug development in Japan
Extremely high prices facilitate drug development for ultra-rare diseases (ultra-orphan drugs). However, various problems arise in terms of healthcare financing and fairness, and the status of ultra-orphan dru...
Citation: Orphanet Journal of Rare Diseases 2022 17:408 -
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyel...
Citation: Orphanet Journal of Rare Diseases 2022 17:407 -
Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa
Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy...
Citation: Orphanet Journal of Rare Diseases 2022 17:406 -
Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia
Vascular malformations in hereditary hemorrhagic telangiectasia (HHT) lead to chronic recurrent bleeding, hemorrhage, stroke, heart failure, and liver disease. There is great interest in identifying novel ther...
Citation: Orphanet Journal of Rare Diseases 2022 17:405 -
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia
Studies have reported that a noncoding hexanucleotide repeat in C9ORF72, is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasian population, never...
Citation: Orphanet Journal of Rare Diseases 2022 17:404 -
The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland
Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and sever...
Citation: Orphanet Journal of Rare Diseases 2022 17:403 -
Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS)
Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S), respectively. These are rare lysosomal storage disorders,...
Citation: Orphanet Journal of Rare Diseases 2022 17:402 -
An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan
Gaucher disease (GD) is an autosomal recessive disease caused by GBA1 mutations resulting in glucosylceramide accumulation in macrophages. GD is characterized by hepatosplenomegaly, anemia, thrombocytopenia, bone...
Citation: Orphanet Journal of Rare Diseases 2022 17:401 -
A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis
To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in treatment with cysteamine. Since this method is time and sample consuming, development...
Citation: Orphanet Journal of Rare Diseases 2022 17:400 -
Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by repetitive subcutaneous or submucosal angioedema, activation of the kinin system, and increased vascular permeability. ...
Citation: Orphanet Journal of Rare Diseases 2022 17:399 -
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limitin...
Citation: Orphanet Journal of Rare Diseases 2022 17:398 -
Lung and chest wall volume during vital capacity manoeuvre in Osteogenesis Imperfecta
Although Osteogenesis Imperfecta (OI) affects the connective tissue, pulmonary function might be compromised because of thoracic deformities. OI is known to be a restrictive lung disease, but spirometry provid...
Citation: Orphanet Journal of Rare Diseases 2022 17:397 -
Effects of a support group leader education program jointly developed by health professionals and patients on peer leader self-efficacy among leaders of scleroderma support groups: a two-arm parallel partially nested randomised controlled trial
More people with rare diseases likely receive disease education and emotional and practical support from peer-led support groups than any other way. Most rare-disease support groups are delivered outside of th...
Citation: Orphanet Journal of Rare Diseases 2022 17:396 -
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel
Brugada syndrome (Brs) and long QT syndrome (LQTs) are the most observed “inherited primary arrhythmia syndromes” and “channelopathies”, which lead to sudden cardiac death.
Citation: Orphanet Journal of Rare Diseases 2022 17:394 -
Eosinophilic meningitis epidemiological data from a national database in Thailand’s Department of Disease Control: a pragmatic, retrospective analytical study
Eosinophilic meningitis (EOM) is a rare neurological disease that can be misdiagnosed or underdiagnosed. Based on reported cases in the literature, there have been 2,827 cases worldwide since 1945. There are l...
Citation: Orphanet Journal of Rare Diseases 2022 17:393 -
Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype–phenotype correlation
Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype–phenotype correlations have b...
Citation: Orphanet Journal of Rare Diseases 2022 17:392 -
Sanfilippo syndrome: consensus guidelines for clinical care
Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with progressive ...
Citation: Orphanet Journal of Rare Diseases 2022 17:391 -
Parental coping with uncertainties along the severe combined immunodeficiency journey
Severe combined immunodeficiency (SCID) is a group of rare genetic disorders that cause disruption in immune system functioning. Parents of children with SCID experience many uncertainties related to their chi...
Citation: Orphanet Journal of Rare Diseases 2022 17:390 -
Sharing is caring: a call for a new era of rare disease research and development
Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and th...
Citation: Orphanet Journal of Rare Diseases 2022 17:389 -
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-...
Citation: Orphanet Journal of Rare Diseases 2022 17:388
Follow
- ISSN: 1750-1172 (electronic)