Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.

Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin () gene, leading to cardiological, neurological, or mixed phenotypes. Apart from the Glu89Gln, Phe64Leu, and Thr49Ala variants, recently, other mutations of gene have been reported in Sicily (His90Asn, Val122Ile, Ser77Phe, Val20Ala). With this paper, we describe a novel mutation in the gene, the Glu61Ala variant, which had been previously reported in only one case with a cardiac phenotype, and the clinical findings surrounding it.

ICM Implantation and Remote Follow-Up Management by Trained Nurses in Italian Hospitals: Current Practice and Nurse Feedback.

Aims: This project aimed to evaluate current practices of trained nurses performing implantable cardiac monitor (ICM) implantations and remote follow-ups in Italy, assessing hospital protocols and nurses' perceptions.

Methods: An anonymous survey was conducted among 163 trained nurses across 75 Italian hospitals, focusing on their ICM implantation and remote monitoring practices. Data collected included hospital characteristics and protocols, barriers to implementation, and nurses' feedback on their experiences.

Imaging of elbow entrapment neuropathies.

Entrapment neuropathies at the elbow are common in clinical practice and require an accurate diagnosis for effective management. Understanding the imaging characteristics of these conditions is essential for confirming diagnoses and identifying underlying causes. Ultrasound serves as the primary imaging modality for evaluating nerve structure and movement, while MRI is superior for detecting muscle denervation.

First-line immune-based combinations or sunitinib in favorable-risk metastatic renal cell carcinoma: a real-world retrospective comparison from the ARON-1 study.

Introduction: Renal cell carcinoma (RCC) is one of the most common types of urogenital cancer. The introduction of immune-based combinations, including dual immune-checkpoint inhibitors (ICI) or ICI plus tyrosine kinase inhibitors (TKIs), has radically changed the treatment landscape for metastatic RCC, showing varying efficacy across different prognostic groups based on the International Metastatic RCC Database Consortium (IMDC) criteria.

Materials And Methods: This retrospective multicenter study, part of the ARON-1 project, aimed to evaluate the outcomes of favorable-risk metastatic RCC patients treated with immune-based combinations or sunitinib.

Optimization of high-throughput marker systems for genomic prediction in alfalfa family bulks.

Alfalfa (Medicago sativa L.) is a perennial forage legume esteemed for its exceptional quality and dry matter yield (DMY); however, alfalfa has historically exhibited low genetic gain for DMY. Advances in genotyping platforms paved the way for a cost-effective application of genomic prediction in alfalfa family bulks.