Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes.Orphanet Journal of Rare Diseases 2020 15:207A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...Orphanet Journal of Rare Diseases 2020 15:206Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somat...Orphanet Journal of Rare Diseases 2020 15:205Characterization of tracheobronchomalacia in infants with hypophosphatasia
Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance. In some infants w...Orphanet Journal of Rare Diseases 2020 15:204Cyclin-dependent kinases and rare developmental disorders
Extensive studies in the past 30 years have established that cyclin-dependent kinases (CDKs) exert many diverse, important functions in a number of molecular and cellular processes that are at play during deve...Orphanet Journal of Rare Diseases 2020 15:203Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
An amendment to this paper has been published and can be accessed via the original article.Orphanet Journal of Rare Diseases 2020 15:202The original article was published in Orphanet Journal of Rare Diseases 2020 15:126Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast,...Orphanet Journal of Rare Diseases 2020 15:201PKU dietary handbook to accompany PKU guidelines
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.Orphanet Journal of Rare Diseases 2020 15:171Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G > A mutation is most frequent in Chinese cblC patients...Orphanet Journal of Rare Diseases 2020 15:200A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)
As part of a late onset GM2 gangliosidosis natural history study, digital health technology was utilized to monitor a group of patients remotely between hospital visits. This approach was explored as a means o...Orphanet Journal of Rare Diseases 2020 15:199Onset features and time to diagnosis in Friedreich’s Ataxia
In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich’s Ataxia (FRDA), a genetic disorder usuall...Orphanet Journal of Rare Diseases 2020 15:198Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Class...Orphanet Journal of Rare Diseases 2020 15:197Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related preva...Orphanet Journal of Rare Diseases 2020 15:196The infantile neuroaxonal dystrophy rating scale (INAD-RS)
INAD is an autosomal recessive neurogenetic disorder caused by biallelic pathogenic variants in PLA2G6. The downstream enzyme, iPLA2, plays a critical role in cell membrane homeostasis by helping to regulate leve...Orphanet Journal of Rare Diseases 2020 15:195Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study
Expanded access programs (EAPs) allow patients with serious, life-threatening conditions access to drugs prior to their formal approval. Despite the possible benefits for patients, EAPs present several challen...Orphanet Journal of Rare Diseases 2020 15:194Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heter...Orphanet Journal of Rare Diseases 2020 15:193ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes
ETV6-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood.Orphanet Journal of Rare Diseases 2020 15:192Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver trans...Orphanet Journal of Rare Diseases 2020 15:169Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
In diagnosis of rare genetic diseases we face a decision as to the degree to which the sequencing lab offers one or more diagnoses based on clinical input provided by the clinician, or the clinician reaches a ...Orphanet Journal of Rare Diseases 2020 15:191Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study
Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control...Orphanet Journal of Rare Diseases 2020 15:190Are supplemental appraisal/reimbursement processes needed for rare disease treatments? An international comparison of country approaches
There is increasing recognition that conventional appraisal approaches may be unsuitable for assessing the value rare disease treatments (RDTs). This research examines what supplemental appraisal/reimbursement...Orphanet Journal of Rare Diseases 2020 15:189Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature
Mastermind-like domain-containing 1 (MAMLD1) has previously been identified as a causative gene for “46,XY Disorders of Sex Development (DSD)”. Recently, there has been some controversy regarding the causative ro...Orphanet Journal of Rare Diseases 2020 15:188Neurofibromatosis I and multiple sclerosis
Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic disorders with a birth incidence as high as 1:2000. It is caused by mutations in the NF1 gene on chromosome 17 which encodes neurofib...Orphanet Journal of Rare Diseases 2020 15:186Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare inherited disorder characterized by development of mucocutaneous telangiectases and visceral organ arteriovenous malformations, which can lead to recurrent...Orphanet Journal of Rare Diseases 2020 15:185Evolution of Haemophilia Care in Europe: 10 years of the principles of care
The European principles of care in haemophilia marked their first decade in 2018. These guiding principles were the beginning of the European Haemophilia Consortium (EHC) review of countries’ adherence to thes...Orphanet Journal of Rare Diseases 2020 15:184Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma
NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, the...Orphanet Journal of Rare Diseases 2020 15:183Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa
Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...Orphanet Journal of Rare Diseases 2020 15:182Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (ANM-SRP) is regarded as refractory myositis, whereby some patients respond poorly to conventional immunosuppression and require...Orphanet Journal of Rare Diseases 2020 15:181Exome sequencing for diagnosis of congenital hemolytic anemia
Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...Orphanet Journal of Rare Diseases 2020 15:180A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis
Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18 months of tre...Orphanet Journal of Rare Diseases 2020 15:179Publication of data collection forms from NHLBI funded sickle cell disease implementation consortium (SCDIC) registry
Sickle cell disease (SCD) is an autosomal recessive blood disorder affecting approximately 100,000 Americans and 3.1 million people globally. The scarcity of relevant knowledge and experience with rare disease...Orphanet Journal of Rare Diseases 2020 15:178Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity
Though case reports and limited case series of Sickle cell disease in Sri Lanka have been reported previously, no attempt has been made hitherto to undertake a comprehensive genotypic-phenotypic analysis of th...Orphanet Journal of Rare Diseases 2020 15:177Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases
The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).Orphanet Journal of Rare Diseases 2020 15:176Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis
Urinary dysfunction is one of the main features of human T-cell leukemia virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). However, a comprehensive assessment of the severity is diffic...Orphanet Journal of Rare Diseases 2020 15:175Inhaled granulocyte-macrophage colony stimulating factor for mild-to-moderate autoimmune pulmonary alveolar proteinosis - a six month phase II randomized study with 24 months of follow-up
Treatment of autoimmune pulmonary alveolar proteinosis (aPAP) by inhaled granulocyte-macrophage colony stimulating factor (GM-CSF) is considered safe and effective. Evidence of benefit from GM-CSG inhalation f...Orphanet Journal of Rare Diseases 2020 15:174The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson’s disease
Macrophages play a significant role in liver disease development and progression. The macrophage activation marker soluble (s)CD163 is associated with severity and prognosis in a number of different acute and ...Orphanet Journal of Rare Diseases 2020 15:173The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activ...Orphanet Journal of Rare Diseases 2020 15:172High content drug screening for Fanconi anemia therapeutics
Fanconi anemia is a rare disease clinically characterized by malformations, bone marrow failure and an increased risk of solid tumors and hematologic malignancies. The only therapies available are hematopoieti...Orphanet Journal of Rare Diseases 2020 15:170Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics
The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics.Orphanet Journal of Rare Diseases 2020 15:168Needs assessment study of rare diseases education for nurses and nursing students in Poland
The treatment of rare diseases in contemporary health systems appears to be steadily gaining in importance, especially as the number of their occurrence is increasing. However, the education of medical staff i...Orphanet Journal of Rare Diseases 2020 15:167Non-deletional alpha thalassaemia: a review
Defective synthesis of the α-globin chain due to mutations in the alpha-globin genes and/or its regulatory elements leads to alpha thalassaemia syndrome. Complete deletion of the 4 alpha-globin genes results i...Orphanet Journal of Rare Diseases 2020 15:166European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)
Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion be...Orphanet Journal of Rare Diseases 2020 15:165ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease
Hirschsprung’s disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding ...Orphanet Journal of Rare Diseases 2020 15:164Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition
In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, impr...Orphanet Journal of Rare Diseases 2020 15:163Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused...Orphanet Journal of Rare Diseases 2020 15:162Best practice guidelines for management of spinal disorders in skeletal dysplasia
Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to the rarity of these conditions however, the literature, largely consisting of small, single ...Orphanet Journal of Rare Diseases 2020 15:161Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD vari...Orphanet Journal of Rare Diseases 2020 15:160Raising rare disease awareness using red flags, role play simulation and patient educators: results of a novel educational workshop on Raynaud phenomenon and systemic sclerosis
As lack of awareness of rare diseases (RDs) among healthcare professionals results in delayed diagnoses, there is a need for a more efficient approach to RD training during academic education. We designed an e...Orphanet Journal of Rare Diseases 2020 15:159Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled trial (ESSENCE study)
Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...Orphanet Journal of Rare Diseases 2020 15:158Pathologic substrate of gastropathy in Anderson-Fabry disease
In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal sy...Orphanet Journal of Rare Diseases 2020 15:156
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