Diagnostic delay of rare diseases in Europe and in Hungary

2012 ◽  
Vol 153 (30) ◽  
pp. 1185-1190 ◽  
Author(s):  
Anett Földvári ◽  
Ildikó Szy ◽  
János Sándor ◽  
Gábor Pogány ◽  
György Kosztolányi
Keyword(s):  
Cystic Fibrosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Tuberous Sclerosis ◽  
Rare Diseases ◽  
Diagnostic Delay ◽  
Patient Organizations ◽  
Qualitative Survey ◽  
Centralized Care ◽  
Patients Experience

The long diagnostic delay is a characteristic problem of rare disease patients. Aims: Diagnostic delay was studied in 14 countries by EurordisCare2 involving patient organizations. Methods: 252 Hungarian patients (cystic fibrosis; Duchenne muscular dystrophy; tuberous sclerosis, retinitis pigmentosa, and Williams’ syndrome) completed the questionnaires. Results: The median delay was longer in Hungary than in Europe (cystic fibrosis: 227 vs. 45 days; Duchenne muscular dystrophy: 467 vs. 360 days; tuberous sclerosis: 155 vs. 120 days). Patients’ experience was similar in Hungary and in Europe. The proportion of misdiagnosis was 30.8% in Hungary (Europe: 41%), 34.8% of patients got diagnosis outside of living place region (EU: 26%) and 19.9% of them found the personal expenses too high (EU: 10%). Delivery of the diagnosis was unnecessary according to 27.4% of Hungarian patients (EU: 35%). Conclusions: The qualitative survey demonstrated that the problems with the diagnosis of rare diseases are widespread, the identified areas require interventions, and it confirmed the importance of centralized care. Orv. Hetil., 2012, 153, 1185–1190.

Electrochemical Immunosensors for the Rapid Screening of Cystic Fibrosis and Duchenne Muscular Dystrophy

2017 ◽  
Vol 29 (8) ◽  
pp. 1911-1917 ◽  
Author(s):  
Nawal Alshehri ◽  
Shimaa Eissa ◽  
Laila Balobaid ◽  
Anas M. Abdel Rahman ◽  
Majed Dasouki ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Rapid Screening ◽  
Electrochemical Immunosensors

Genetic and congenital problems

2010 ◽  
Keyword(s):  
Cystic Fibrosis ◽  
Down Syndrome ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Osteogenesis Imperfecta ◽  
Nursing Care ◽  
Neurofibromatosis Type ◽  
Mendelian Inheritance ◽  
Genetic Condition

Mendelian inheritance 696Cystic fibrosis (CF): a genetic condition 698Basic nursing care for a child with cystic fibrosis 700Achondroplasia 702Duchenne muscular dystrophy (DMD) 704Down syndrome 706Turner syndrome 708Neurofibromatosis type 1 710Osteogenesis imperfecta 712Meningocele 714Myelomeningocele 716Hydrocephalus ...

Neuroblastoma in Duchenne Muscular Dystrophy

PEDIATRICS ◽  
1986 ◽  
Vol 78 (6) ◽  
pp. 1170-1171
Author(s):  
KATHREEN M. JOHNSTON ◽  
SEYMOUR ZOGER ◽  
MAHIN GOLABI ◽  
JOHN J. MULVIHILL
Keyword(s):  
Cystic Fibrosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Stage Iii ◽  
Genetic Abnormalities

To the Editor.— In reporting two patients with neuroblastoma and cystic fibrosis, Moss et al1 noted that "reports of cystic fibrosis and other genetic abnormalities in individual patients are usually regarded as chance associations." We encountered an analogous situation in caring for a boy in whom stage III neuroblastoma developed at 9 months of age; he responded to surgery and chemotherapy and subsequently was found to have classical Duchenne muscular dystrophy at 3½ years of age.

Laboratory and radiological screening tests

2006 ◽  
pp. 192-200
Author(s):  
David M. B. Hall ◽  
David Elliman
Keyword(s):  
Cystic Fibrosis ◽  
Liver Disease ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Coeliac Disease ◽  
Lead Poisoning ◽  
Metabolic Disorders ◽  
Urine Analysis ◽  
Screening Tests

Chapter 9 cover phenylketonuria and hypothyroidism, other metabolic disorders, cystic fibrosis, Duchenne muscular dystrophy, urine analysis and urine infections, reflux, haemoglobinopathies, liver disease in infancy, hypercholesterolaemia, lead poisoning, neuroblastoma, and coeliac disease.

scholarly journals Implications of diagnostic delay in Duchenne muscular dystrophy.

BMJ ◽  
1983 ◽  
Vol 287 (6399) ◽  
pp. 1106-1107 ◽  
Author(s):  
T O'Brien ◽  
J R Sibert ◽  
P S Harper
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Diagnostic Delay

scholarly journals Measuring Duchenne muscular dystrophy impact: development of a proxy-reported measure derived from PROMIS item banks

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Carolyn E. Schwartz ◽  
Roland B. Stark ◽  
David Cella ◽  
Katrina Borowiec ◽  
Katherine L. Gooch ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Negative Affect ◽  
Rare Diseases ◽  
Model Fit ◽  
Proxy Report ◽  
Web Based ◽  
Item Banks ◽  
Report Measure ◽  
Marginal Reliability

Abstract Background Person-reported outcomes measurement development for rare diseases has lagged behind that of more common diseases. In studies of caregivers of patients with rare diseases, one relies on proxy report to characterize this disability. It is important to measure the child’s disability accurately and comprehensively because it affects caregiver burden. We aimed to create a condition-specific caregiver proxy-report measure for Duchenne Muscular Dystrophy (DMD) in order to understand the impact of DMD on the caregiver. Drawing on relevant item banks from the Patient-Reported Outcome Measurement Information System (PROMIS), we sought to confirm their reliability and validity in the target sample of DMD caregivers. Methods This web-based study recruited DMD caregivers via Rare Patient Voice, patient-advocacy groups, and word of mouth. Recruitment was stratified by age of the caregiver’s child with DMD, which broadly represents stages of DMD progression: 2–7, 8–12, 13–17, and > 18. Telephone interviews with DMD parent-caregivers pretested possible measures for content validity. The web-based study utilized an algorithm to categorize respondents’ ambulatory status for tailored administration of PROMIS Parent-Proxy items as well as some new items developed based on caregiver interviews. Item response theory analyses were implemented. Results The study sample included 521 DMD caregivers representing equally the four age strata. The proxy-report measure included the following domains: fatigue impact, strength impact, cognitive function, upper extremity function, positive affect, negative affect, sleep-device symptoms, and mobility. The first five domains had strong psychometric characteristics (unidimensionality; acceptable model fit; strong standardized factor loadings; high marginal reliability). Negative Affect, covering anger, anxiety, depressive symptoms, and psychological stress, fit a bifactor model with good model fit, high marginal reliability, and strong factor loadings. The Sleep-device symptoms domain was not unidimensional, and the mobility domain did not have a simple structure due to residual correlations among items at opposite end of the mobility-disability continuum. These two domain scores were retained as clinimetric indices (i.e., uncalibrated scales), to achieve the overall goal of having a content-valid DMD-specific measure across all stages of disease severity. Conclusions The present study derived a DMD-specific proxy-report measure from PROMIS item banks and supplemental items that could potentially be utilized in caregiver research across all stages of the care recipient’s DMD. Future research will focus on assessing the responsiveness and validity of the measure over time and its comparison to DMD patient self-report.

scholarly journals Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner

2021 ◽  
Vol 14 (8) ◽  
pp. 785
Author(s):  
Sylwia Michorowska
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Trials ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Premature Termination Codon ◽  
Hereditary Disease ◽  
In Vitro Activity ◽  
Nonsense Mutations ◽  
Expression Of Genes

Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function. However, the translation of transcripts containing premature stop codons resulting in full-length protein expression can be achieved using readthrough agents. Among them, only ataluren was approved in several countries to treat nonsense mutation Duchenne muscular dystrophy (DMD) patients. This review summarizes ataluren’s journey from its identification, via first in vitro activity experiments, to clinical trials in DMD, cystic fibrosis, and aniridia. Additionally, data on its pharmacokinetics and mechanism of action are presented. The range of diseases with underlying nonsense mutations is described for which ataluren therapy seems to be promising. What is more, experiments in which ataluren did not show its readthrough activity are also included, and reasons for their failures are discussed.

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