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Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.
BMC Cancer
January 2025
Medical and Translational Oncology, Department of Oncology, Azienda Ospedaliera Santa Maria, Viale Tristano Di Joannuccio 1, Terni, 05100, Italy.
Prostate cancer (PCa) ranks among the most prevalent malignancies in men, with notable associations to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome, both linked to germline likely pathogenetic variant/pathogenetic variant (LPV/PV) in genes involved in DNA repair. Among these genes, BRCA2 in PCa patients is the most frequently altered. Despite progresses, challenges in BRCA carriers detection persist, with a quarter of PCa cases lacking family history.
View Article and Find Full Text PDFLate-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?
BMJ Neurol Open
November 2024
Neurology, Edith Wolfson Medical Center, Holon, Tel Aviv, Israel.
Background: Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the hallmark of the disease and the key to diagnosis.
Methods: We report a case of an elderly patient with subacute onset of severe weakness affecting the upper and lower limbs, neck extensors and abdominal muscles. A comprehensive laboratory workup was performed.
[Intestinal microbiota and chronic heart failure: association and targets of influence of therapy.].
Adv Gerontol
November 2024
S.M.Kirov Military Medical Academy, 6 Academician Lebedev str., St. Petersburg 194044, Russian Federation, e-mail:
The increasing prevalence of chronic heart failure (CHF) among older people is a global problem. Despite the success of treatment, the mortality rate of these patients remains high, resulting in the need to search for new mechanisms of the development and progression of cardiovascular system pathologies, as well as to develop innovative branches of therapy. Considerable recent interest has been directed towards studying changes in the composition of the intestinal microbiota in people with age, its role in development, as well as potential directions for the prevention of cardiovascular diseases and their complications.
View Article and Find Full Text PDFGut microbiome profile to the level species in diarrheic protozoan-carrier patients in Italy.
Life Sci
December 2024
Biomedical Research Center, Qatar University, Doha, Qatar.
The human gastrointestinal microbiota contains a diverse consortium of microbes, including bacteria, protozoa, viruses, and fungi that are involved in many physiological and metabolic as well pathogenetic processes. However, microbiological research is dominated by studies describing the impact of prokaryotic bacteria on gut microbiome with a limited understanding of their relationship with other integral microbiota constituents as protozoa. Here, we investigated the gut microbiome composition using Oxford Nanopore Technology approach in relation to protozoan colonization of Giardia duodenalis, Cryptosporidium parvum, Blastocystis sp.
View Article and Find Full Text PDFReview of type 3 macular neovascularization in age-related macular degeneration: no DRAMA (Deep Retinal Age-related Microvascular Anomalies).
Eye (Lond)
October 2024
Vitreous Retina Macula Consultants of New York, New York, USA.
Type 3 macular neovascularization (MNV) is a unique form of neovascular age-related macular degeneration (AMD) that presents distinct pathogenetic features, clinical manifestations, and prognostic considerations when compared to types 1 and 2 MNV. Insights gained from clinicopathological correlations, bridging in vivo examination techniques with ex vivo histological analysis, have significantly enhanced our comprehension of this MNV phenotype, shaped current management strategies and influenced future directions for therapeutics. The particularities of type 3 MNV, which may largely stem from its origin from the retinal vasculature, are critically important for predicting the disease course.
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