We thank Dr. Curtis for his interest and feedback [...].
- Publikační typ
- časopisecké články MeSH
- randomizované kontrolované studie MeSH
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder with repetitive behaviour which affects interaction and communication. Sulforaphane (SFN), an isothiocyanate abundant in the seeds and sprouts of cruciferous vegetables, has been shown to be effective in alleviating autistic behaviour. We performed a prospective double-blind placebo-controlled study to examine the possible effect of SFN in a paediatric cohort aged three to seven years based on measurements of the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Responsiveness Scale-2 (SRS-2), and the Aberrant Behaviour Checklist (ABC). The study consisted of three visits over the duration of 36 weeks (baseline, 18 weeks, and 36 weeks). Twenty-eight of the 40 randomized children completed the study. The mean total raw scores on ABC and SRS-2 improved in both groups, but none of the changes reached statistical significance (ABC: 0 weeks p = 0.2742, 18 weeks p = 0.4352, and 36 weeks 0.576; SRS-2: 0 weeks p = 0.5235, 18 weeks p = 0.9176, and 36 weeks 0.7435). Changes in the assessment of the ADOS-2 subscale scores also did not differ between the two study cohorts (ADOS-2: 0 weeks p = 0.8782, 18 weeks p = 0.4788, and 36 weeks 0.9414). We found no significant clinical improvement in the behavioural outcome measures evaluated in children with ASD aged 3-7 years that were treated with sulforaphane.
- MeSH
- autistická porucha * farmakoterapie MeSH
- dítě MeSH
- dvojitá slepá metoda MeSH
- isothiokyanatany terapeutické užití MeSH
- lidé MeSH
- poruchy autistického spektra * farmakoterapie MeSH
- prospektivní studie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- randomizované kontrolované studie MeSH
BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeletal chondrodysplasia, leading to significant morbidity and reduced life expectancy is the main clinical feature of this multisystemic disease. Although enzyme replacement therapy with elosulfase alfa is established in Europe, the rarity of disease and other factors still set hurdles in having patients treated in some countries. Aim of this statement is to provide evidence-based guidance for the enzyme replacement treatment of Morquio A patients, harmonizing recommendations from published guidelines with the real-life clinical practice in the Central and South-Eastern European region. PARTICIPANTS: The Consensus Group, convened by 8 Steering Committee (SC) members from 7 Central and South-Eastern European countries, consisted of a multidisciplinary group of 17 experts in the management of MPS in Central and South-Eastern Europe. CONSENSUS PROCESS: The SC met in a first virtual meeting with an external scientific coordinator, to discuss on clinical issues to be analyzed in guidance statements. Statements were developed by the scientific coordinator, evaluated by the SC members in a first modified-Delphi voting and adapted accordingly, to be submitted to the widest audience in the Consensus Conference. Following discussion and further modifications, all participants contributed to a second round of modified-Delphi voting. RESULTS: Nine of ten statements, concerning general guidelines for management of MPS IVA patients and specific recommendations for treatment, received final consensus. CONCLUSIONS: European guidelines and evidence-based recommendations for Morquio A patients should be considered in the real life of Central and South-Eastern European countries and adapted to unique clinical practice approaches and criteria for patients' access to treatment and reimbursement in the region.
- MeSH
- enzymová substituční terapie MeSH
- isovaleryl-CoA-dehydrogenasa nedostatek MeSH
- konsensus MeSH
- lidé MeSH
- mukopolysacharidóza IV * farmakoterapie MeSH
- mukopolysacharidózy * farmakoterapie MeSH
- vrozené poruchy metabolismu aminokyselin MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Pompeho nemoc je vzácné progresivní autosomálně recesivní onemocnění způsobené deficitem lysosomálního enzymu α-glukosidázy (GAA; nebo také kyselé maltázy). Povědomí o tomto onemocnění v odborné veřejnosti vzrostlo ve spojení s příchodem terapie formou podávání náhradního rekombinantního enzymu. Cílem přehledového článku je obeznámit čtenáře s některými méně známými aspekty tohoto zajímavého onemocnění.
Pompe disease is a rare progressive autosomal recessive disorder caused by deficiency of lysosomal α-glucosidase (GAA;or acid maltase). The awareness of the disease among specialists has risen in the association with the arrival of therapy inthe form of applied recombinant enzyme. The aim of this review is to bring the reader some less known aspects of thisinteresting disease.
- MeSH
- enzymová substituční terapie dějiny metody MeSH
- glykogenóza typu II * diagnóza farmakoterapie patofyziologie MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
