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http://dx.doi.org/10.1002/mds.22328 | DOI Listing |
J Cardiothorac Vasc Anesth
January 2025
Department of Anesthesia and Intensive Care, IRCCS San Raffaele Scientific Institute, Milan, Italy. Electronic address:
Extracorporeal membrane oxygenation (ECMO) is an advanced treatment for severe respiratory failure. Implantation of ECMO before invasive ventilation or extubation during ECMO has been reported and is becoming increasingly popular. Avoidance of sedation and invasive ventilation during ECMO (commonly referred to as "awake ECMO") may have potential advantages, including a lower rate of delirium, shorter mechanical ventilation time, and the possibility of undergoing early rehabilitation and/or physiotherapy.
View Article and Find Full Text PDFDig Liver Dis
January 2025
Department of Gastroenterology, IRCCS Humanitas Research Hospital, Rozzano, Milano, Italy. Electronic address:
Bile Acid Diarrhea (BAD) is a common cause of chronic diarrhea, often accompanied by urgency, occasional fecal incontinence, abdominal pain, and fatigue. A nationwide survey has shown limited awareness of BAD within the Italian medical community, prompting a panel of experts to develop a Position Paper that outlines the most practical and cost-saving diagnostic investigations and treatments for this frequently overlooked condition. The document provides an overview of the epidemiology, pathophysiology, clinical manifestations, and classification of the different types of Bile Acid Diarrhea (BAD).
View Article and Find Full Text PDFArch Rehabil Res Clin Transl
December 2024
Section of Neurorehabilitation, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
Nystagmus has various clinical manifestations, including downbeat, upbeat, and torsional types, each associated with distinct neurologic features. Current rehabilitative interventions focusing on fixation training and optical correction often fail to achieve complete resolution. When nystagmus coexists with fragile X-associated tremor/ataxia syndrome (FXTAS), functional impairments worsen, particularly affecting balance.
View Article and Find Full Text PDFJ Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Eur Heart J Case Rep
January 2025
Fondazione Toscana Gabriele Monasterio, Via Giuseppe Moruzzi 1, 56124 Pisa, Italy.
Background: Takotsubo syndrome (TTS) is characterized by transient left ventricular dysfunction, often triggered by emotional or physical stress. It usually presents with clinical features similar to acute coronary syndrome, making its occurrence following elective percutaneous coronary intervention (PCI) challenging to diagnose and treat.
Case Summary: A 67-year-old man with ischaemic heart disease and recurrent angina underwent elective PCI of the right coronary artery.
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