Wolfram syndrome scientific and family meeting in Cardano al Campo (Varese, Italy)

On behalf of the “Associazione Gentian” the “Wolfram Syndrome Italy Association” we cordially invite you to the national scientific and family meeting to be held in Cardano al Campo (Varese, Italy), 21 September 2019. The meeting brings together Italian scientists, families and patients and will be focused on Wolfram syndrome. You will have the unique opportunity to network with colleagues and experts in the field.

Please click here for the program.

 

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Medical treatment for MCT8 deficiency

Background Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T3) concentrations (Allan–Herndon–Dudley syndrome). This chronic thyrotoxicosis leads to progressive deterioration in bodyweight, tachycardia, and muscle wasting, predisposing affected individuals to substantial morbidity and mortality. Treatment that safely alleviates peripheral thyrotoxicosis and reverses cerebral hypothyroidism is not yet available. We aimed to investigate the effects of treatment with the T3 analogue Triac (3,3′,5-tri-iodothyroacetic acid, or tiratricol), in patients with MCT8 deficiency.

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Esta entrada foi publicada em MTG8.

Rare endocrine diseases Padova meeting

On June 7th 2019, in the old Venetian villa Contarini in Piazzola sul Brenta owing to the Venetian Region Counsil, the Endocrinology Unit of Azienda Ospedaliera-University of Padova (director Carla Scaroni, MD ) organized for Endo ERN group of Padova a meeting dedicated to medical doctors involved in child- and adult-hood endocrine rare diseases.

The aim of the meeting was to ameliorate the network among different care centers in our territory to uniform the standards of diagnosis and therapy for rare disease patients.

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Esta entrada foi publicada em Geral.