Publications by authors named "AD Valle"

MUTYH-Associated Polyposis (MAP) is caused by biallelic pathogenic germline variants in the MUTYH gene. However, individuals harboring monoallelic MUTYH pathogenic variants in the presence of a positive family history have been reported to have a twofold increased risk of colorectal cancer (CRC) and extra colonic cancers. Our aim was to characterize the spectrum of monoallelic and biallelic germline MUTYH pathogenic variants in Latin American patients and to describe their clinical and genetic characteristics.

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  • The study analyzed allele frequencies of a specific gene in 199 breast cancer patients from Uruguay undergoing tamoxifen treatment to see how it affected their clinical outcomes.
  • Genotyping was done using real-time polymerase chain reaction, revealing metabolization profiles: 65% normal, 30% intermediate, and 5% poor metabolizers.
  • Findings indicated no significant impact of gene polymorphisms on clinical outcomes, as the normal metabolizers had similar results to the combined intermediate and poor metabolizer groups.
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Increasing age is associated with dysregulated immune function and increased inflammation-patterns that are also observed in individuals exposed to chronic social adversity. Yet we still know little about how social adversity impacts the immune system and how it might promote age-related diseases. Here, we investigated how immune cell diversity varied with age, sex and social adversity (operationalized as low social status) in free-ranging rhesus macaques.

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  • Dominantly inherited micro-satellite instable (MSI) cancers, linked to mutations in mismatch repair (MMR) genes (MSH2, MLH1, MSH6, PMS2), challenge traditional views of cancer development and are associated with unique syndromes known as Lynch syndromes.
  • Each Lynch syndrome has distinct risks and expressions, and it’s crucial to consider factors like specific gene mutation and sex when studying these cancers.
  • Advances in colonoscopy surveillance, aspirin usage, and immunotherapy represent significant progress in personalized medicine for managing and preventing inherited MSI cancers.
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Videocapillaroscopy allows the study of both the morphological and architectural structure of the microcirculation and its hemodynamic conditions; these parameters are directly involved in autoimmune and/or inflammatory pathologies. The purpose of this research, based on capillaroscopy, is to establish whether a patient who receives an anti-COVID 19 vaccine has any changes in their oral microcirculation. A complete capillaroscopic mapping of the oral cavity of the subjects examined was made; the investigated mucosa sites were the following: cheek, labial, chewing-gingival and back of the tongue.

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  • - The study aims to compare colorectal cancer (CRC) incidences between two groups: one group receiving mandatory colonoscopy surveillance (PLSD) and another group with retrospective data (IMRC) that did not have the same follow-up.
  • - Results from the PLSD showed higher CRC rates in carriers of MMR gene variants, particularly for path_MLH1 and path_MSH2, compared to the IMRC cohort, challenging previous expectations about cancer rates in these groups.
  • - The study concludes that while colonoscopy did reduce CRC incidences in paths_MPS2 carriers prior to age 50, it did not have the same effect for path_MLH1 and path_MSH2, suggesting the need for reevaluation of
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Background: Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance.

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Objectives: To compare the effect of a toothpaste containing fluoride (F), calcium silicate (CaSi) and sodium phosphate salts to conventional toothpaste (NaF) on human enamel specimens submitted to erosive and abrasive challenges.

Methods: 48 sound and 48 enamel samples pre-treated with 1% citric acid were divided into 4 groups (n = 12): Group 1- Non-fluoride toothpaste; Group 2- NaF toothpaste (1450 ppmF); Group 3- CaSi toothpaste (1450 ppmF; MFP); Group 4- Erosion only. The samples were subjected to pH cycling (3 cycles/day; 90s; 1% citric acid, pH 3.

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The antimicrobial and anticaries effects of CaneCPI-5 were evaluated. Ninety bovine enamel samples were treated for 60 s with either phosphate-buffered-saline (PBS), 0.12% chlorhexidine (CHX), 0.

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The effect of root canal preparation technique on microcrack initiation is a controversial issue. This systematic review aimed to assess the role of root canal preparation techniques with different kinematics (manual, rotary, reciprocating, adaptive, self-adjusting file) on microcrack initiation. In vitro and in situ studies comparing the influence of at least two different root canal preparation techniques on the initiation of dentin microcracks were searched in PubMed/MEDLINE and SCOPUS up to June 5, 2018 without language and period restriction.

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In this paper, we present the case of a 48-year-old woman diagnosed with early breast cancer. As candidate for mastectomy, she refused immediate reconstruction. She was referred to a psycho-oncologist for further evaluation and support.

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Background: Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair () variants despite frequent colonoscopy surveillance in expert centres. This observation conflicts with the paradigm that removal of all visible polyps should prevent the vast majority of CRC in carriers, provided the screening interval is sufficiently short and colonoscopic practice is optimal.

Methods: To inform the debate, we examined, in the Prospective Lynch Syndrome Database (PLSD), whether the time since last colonoscopy was associated with the pathological stage at which CRC was diagnosed during prospective surveillance.

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Article Synopsis
  • Medical experts in South America are learning more about Lynch syndrome, a hereditary cancer condition, thanks to help from mentors like H. T. Lynch.
  • There are 27 cancer care centers in South America, with most located in Brazil, but they need more resources and government support to help patients better.
  • The article aims to explain how knowledge about Lynch syndrome has spread, how registries were set up, and to share updates on new findings in the region.
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Objective: We refer to the effectiveness (known as pragmatic or real world) and efficacy (known as explanatory or desired or ideal world) of interventions. However, these terms seem to be randomly chosen by investigators who design clinical trials and do not always reflect the true purpose of the study. A pragmatic-explanatory continuum indicator summary tool was thus developed with the aim of identifying the characteristics of clinical trials that distinguish between effectiveness and efficacy issues.

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Quality of life (QoL) after prostate cancer treatment is uncertain. Patient responses to QoL questions shift for a number of reasons: measurement intervals no longer have the same psychological anchors (recalibration), the importance attributed to different QoL domains changes over time (reprioritization), and the definition of QoL differs throughout the disease continuum (reconceptualization). Therefore, the aim of this study was to describe QoL response shift in a cohort of 66 men with prostate cancer.

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Lynch syndrome (LS) is an autosomal dominant syndrome that predisposes individuals to development of cancers early in life. These cancers are mainly the following: colorectal, endometrial, ovarian, small intestine, stomach and urinary tract cancers. LS is caused by germline mutations in DNA mismatch repair genes (MMR), mostly MLH1 and MSH2, which are responsible for more than 85% of known germline mutations.

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Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients operated consecutively for CRC in the Hospital Central de las Fuerzas Armadas (Uruguay) between 1987 and 2003.

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Since 1988, there has been an interdisciplinary center for obesity treatment in Stradella's Hospital's Surgery Department,. Patients are followed by a group of surgeons, anesthetists and dietitians, who choose the proper treatment for the patient. The surgical treatments are two: (1) vertical banded gastroplasty; and (2) a new technique consisting of biliopancreatic diversion plus a vertical banded gastroplasty with stomach ad hoc.

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