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Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene - Neurological Sciences

Sep 18, 2024 | link.springer.com | Di Rauso |Di Fonzo |Reggio Emilia |AUSL-IRCCS Reggio Emilia

AbstractAtaxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder presenting with cerebellar ataxia, sensory-motor axonal neuropathy, oculomotor apraxia, cerebellar atrophy and high alpha-fetoprotein (AFP) serum level. AOA2 is due to coding mutations of the SETX gene, mapped to chromosome 9q34. Seldom noncoding mutations affecting RNA processing have been reported too. To date psychiatric symptoms have never been reported in AOA2.
Refining Treatment Planning in STereotactic Arrhythmia Radioablation (STAR): Benchmark Results and Consensus Statement from the STOPSTORM.eu Consortium

Aug 8, 2024 | redjournal.org | IIIrd Radiotherapy |Reggio Emilia |AUSL-IRCCS Reggio Emilia

Highlights •STOPSTORM aims to standardize treatment planning for STereotactic Arrhythmia Radioablation (STAR). •20 centers generated 67 treatment plans for 3 STAR cases demonstrating current clinical practice in Europe. •Treatment planning showed agreement on dose prescription methods and trade-offs and no agreement on dose inhomogeneity and cardiac substructure dose limits. •Consensus statements for STAR treatment planning were issued for future harmonization.

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