Reply to Curtis, L. Comment on "Magner et al. Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study. 2023, , 718".

We thank Dr. Curtis for his interest and feedback [..

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.

A personalized treatment decision for Gaucher disease (GD) patients should be based on relevant markers that are specific to GD, play a direct role in GD pathophysiology, exhibit low genetic variation, reflect the therapy, and can be used for all patients. Thirty-four GD patients treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) were analyzed for platelet count, chitotriosidase, and tartrate-resistant acid phosphatase activity in plasma samples, and quantitative measurement of Lyso-Gb1 was performed in dried blood spots. In our ERT and SRT study cohorts, plasma lyso-GL1 correlated significantly with chito-triosidase (ERT: r = 0.

Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study.

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).

Changes in placental angiogenesis and their correlation with foetal intrauterine restriction.

Type Of Study: Summary review.

Setting: Department of Gynaecology and Obstetrics, 1st Faculty of Medicine, Charles University and Hospital Na Bulovce, Prague; Department of Physiology, Faculty of Science, Charles University, Prague; Department of Children and Adolescent Medicine, 1st Faculty of Medicine, Charles University in Prague and General Teaching Hospital, Prague.

Introduction: Intrauterine growth restriction (IUGR) is one of the most common problems in obstetrics.

Clinical manifestation of mitochondrial diseases.

Mitochondrial disorders (MD) represent a clinically, biochemically and genetically heterogeneous group of diseases associated with dysfunction of the oxidative phosphorylation system and pyruvate dehydrogenase complex. Our aim was to illustrate the most common clinical presentation of MD on the example of selected diseases and syndromes. The minimal prevalence of MD is estimated as 1 to 5,000.