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.

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.

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 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.

scholarly journals Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions

1991 ◽  
Vol 19 (5) ◽  
pp. 1155-1155 ◽  
Author(s):  
M.E. Balnaves ◽  
S. Nasioulas ◽  
H-H.M. Dahl ◽  
S. Forrest
Keyword(s):  
Cystic Fibrosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Direct Pcr
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