Risultati per: BRCA e Adenoma del pancreas metastatico

I progetti in corso all’Humanitas: dai modelli 3D agli organoidi fino all’intelligenza artificiale

Objectives
Serrated polyps (SPs) with synchronous advanced adenoma (AA) may increase the incidence of colorectal cancer. However, current studies do not address this combination of SPs and AAs in detail with regard to their clinical characteristics in different age groups. The aim was to assess clinical characteristics and risk factors for SPs with synchronous AA in different age groups.

Design
Retrospective cohort study.

Setting
Electronic medical record data from January 2011 to January 2022 at three grade III class A hospitals were enrolled in the study.

Participants
A total of 1605 patients with SPs with synchronous AA, including 484 patients in the elderly group and 1121 patients in the non-elderly group, were studied.

Main exposure measure
The elderly group and the non-elderly group.

Main outcome measure
Sex, smoking history, drinking history, body mass index (BMI), SP location, size, morphology and pathology.

Results
The incidence of hyperplastic polyps (HPs) with synchronous AA in the elderly group was higher than that in the non-elderly group, while the incidence of sessile serrated adenomas/polyps (SSAs/Ps) with synchronous AA in the non-elderly group was higher than that in the elderly group. Male sex, drinking history and HP size (≤20 mm) were independent risk factors for HPs with synchronous AA in the non-elderly group, while drinking history and HP size (≤15 mm) were independent risk factors in the elderly group. For SSAs/Ps with synchronous AA, male sex, smoking history, drinking history, and SSA size (≥16 mm) were independent risk factors in the non-elderly group; high BMI was an independent risk factor in the elderly group.

Conclusions
SPs with synchronous AA showed different clinical characteristics and risk factors in different age groups.

I moderni dispositivi permettono di adattare la terapia insulinica alle esigenze individuali di ciascun paziente, migliorando l’efficacia del trattamento

Prima volta presso l’Azienda Ospedaliero Universitaria Marche

Più casi di mieloma e cancro a colon-retto, pesano stili di vita

Studio identifica i pazienti a rischio di chirurgia inefficace

Objective
Whether varying degrees of glycaemic control impact colonic neoplasm risk in patients with diabetes mellitus (DM) remains uncertain.

Design
Patients with newly diagnosed DM were retrieved from 2005 to 2013. Optimal glycaemic control at baseline was defined as mean haemoglobin A1c (HbA1c)

Pancreatic ducts form an intricate network of tubules that secrete bicarbonate and drive acinar secretions into the duodenum. This network is formed by centroacinar cells, terminal, intercalated, intracalated ducts, and the main pancreatic duct. Ductal heterogeneity at the single-cell level has been poorly characterized; therefore, our understanding of the role of ductal cells in pancreas regeneration and exocrine pathogenesis has been hampered by the limited knowledge and unexplained diversity within the ductal network.

Objectives
To assess the association of socioeconomic demographics with recommendation for and uptake of risk-reducing bilateral salpingo-oophorectomy (rrBSO) in patients with BRCA1 and BRCA2 (BRCA1/2) mutations.

Design
Retrospective cohort, semistructured qualitative interviews.

Setting and participants
BRCA1/2 mutation carriers at an urban, public hospital with a racially and socioeconomically diverse population.

Intervention
None.

Primary and secondary outcomes
The primary outcomes were rate of rrBSO recommendation and completion. Secondary outcomes were sociodemographic variables associated with rrBSO completion.

Results
The cohort included 167 patients with BRCA1/2 mutations of whom 39% identified as black (n=65), 35% white (n=59) and 19% Hispanic (n=32). Over 95% (n=159) received the recommendation for age-appropriate rrBSO, and 52% (n=87) underwent rrBSO. Women who completed rrBSO were older in univariable analysis (p=0.05), but not in multivariable analysis. Completion of rrBSO was associated with residence in zip codes with lower unemployment and documented recommendation for rrBSO (p

Objectives
Women who inherit a pathogenic BRCA1 or BRCA2 mutation are at substantially higher risk of developing breast and ovarian cancer than average. Several cancer risk management strategies exist to address this increased risk. Decisions about which strategies to choose are complex, personal and multifactorial for these women. Decision aids (DAs) are tools that assist patients in making health-related decisions. The aim of this scoping review was to map evidence relating to the development and testing of patient DAs for cancer unaffected BRCA mutation carriers.

Design
Scoping review conducted according to the Joanna Briggs Institute’s (JBI’s) scoping review methodological framework.

Data sources
MEDLINE, EMBASE, CINAHL, Web of Science. No restrictions applied for language or publication date. A manual search was also performed.

Eligibility criteria for selecting studies
Studies on DAs for cancer risk management designed for or applicable to women with a pathogenic BRCA1 or BRCA2 mutation who are unaffected by breast or ovarian cancer.

Data extraction and synthesis
Data were extracted using a form based on the JBI instrument for extracting details of studies’ characteristics and results. Data extraction was performed independently by two reviewers. Extracted data were tabulated.

Results
32 evidence sources relating to development or testing of 21 DAs were included. Four DAs were developed exclusively for cancer unaffected BRCA mutation carriers. Of these, two covered all guideline recommended risk management strategies for this population though only one of these was readily available publicly in its full version. All studies investigating DA effectiveness reported a positive effect of the DA under investigation on at least one of the outcomes evaluated, however only six DAs were tested in randomised controlled trials.

Conclusion
This scoping review has mapped the landscape of the literature relating to developing and testing, DAs applicable to cancer unaffected BRCA mutation carriers.

Objective
Currently, there is no cure for chronic pancreatitis (CP). Germline loss-of-function variants in SPINK1 (encoding trypsin inhibitor) are common in patients with CP and are associated with acute attacks and progression of the disease. This preclinical study was conducted to explore the potential of adeno-associated virus type 8 (AAV8)-mediated overexpression of human SPINK1 (hSPINK1) for pancreatitis therapy in mice.

Design
A capsid-optimised AAV8-mediated hSPINK1 expression vector (AAV8-hSPINK1) to target the pancreas was constructed. Mice were treated with AAV8-hSPINK1 by intraperitoneal injection. Pancreatic transduction efficiency and safety of AAV8-hSPINK1 were dynamically evaluated in infected mice. The effectiveness of AAV8-hSPINK1 on pancreatitis prevention and treatment was studied in three mouse models (caerulein-induced pancreatitis, pancreatic duct ligation and Spink1 c.194+2T >C mouse models).

Results
The constructed AAV8-hSPINK1 vector specifically and safely targeted the pancreas, had low organ tropism for the heart, lungs, spleen, liver and kidneys and had a high transduction efficiency (the optimal expression dose was 2×1011 vg/animal). The expression and efficacy of hSPINK1 peaked at 4 weeks after injection and remained at significant level for up to at least 8 weeks. In all three mouse models, a single dose of AAV8-hSPINK1 before disease onset significantly alleviated the severity of pancreatitis, reduced the progression of fibrosis, decreased the levels of apoptosis and autophagy in the pancreas and accelerated the pancreatitis recovery process.

Conclusion
One-time injection of AAV8-hSPINK1 safely targets the pancreas with high transduction efficiency and effectively ameliorates pancreatitis phenotypes in mice. This approach is promising for the prevention and treatment of CP.