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Background: Merkel cell carcinoma (MCC) is a rare, aggressive cutaneous malignancy with neuroendocrine differentiation. Several molecular pathways have been implicated in MCC development and multiple cell-of-origin candidates have been proposed, including neural crest cells, which express acetylcholine receptors (AChRs). The role of nicotinic acetylcholine receptors (nAChRs) in MCC has not been explored.

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Background: Blood loss during liver transplantation (LT) remains a major concern associated with increased morbidity and reduced patient and graft survival. The high complexity of the procedure associated with the multifaceted origin of the bleeding urges early identification of high-risk patients and proper monitoring of hemostasis disorders in order to improve results. The accuracy of international normalized ratio (INR) and activated partial thromboplastin time (aPTT) to evaluate coagulation status in cirrhotic patients has been doubted.

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Background: Cholangiocarcinoma (CCA) is a rare neoplasm, with high mortality, originating in the bile ducts. Its incidence is higher in Eastern countries due to the endemic prevalence of liver parasites. Factors such as metabolic syndrome, smoking, and pro-inflammatory conditions are also linked to the disease.

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Diagnosis of hereditary ataxias: a real-world single center experience.

J 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.

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The article provides a review of the sensory processing (SP) phenomenon, its origins, theoretical models, and neurophysiological foundations. Initiated by A. Jean Ayres' research on sensory integration in the 1960s and 70s, this field has evolved, leading to the development of concepts such as Winnie Dunn's four quadrant model and Miller's ecological model of sensory modulation.

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