MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps / Poliposis adenomatosa relacionada con MSH3 en un paciente con antecedentes familiares negativos de pólipos colorrectales

Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognized as a rare cause of adenomatous polyposis. We present a 49-year-old woman who was admitted to our high-risk colorectal cancer clinic after incidental detection of a biallelic MSH3 (likely) pathogenic variant when tested for the germline (likely) pathogenic variants in hereditary breast and ovarian cancer related genes. The focus of this case report is to describe the genotype and phenotype of our patient with MSH3-related adenomatous polyposis. More than half of the polyps (13/19) were located in the right colon. In addition, benign and malignant extraintestinal lesions may be common as our patient had simple liver and kidney cysts and two basal cell skin carcinomas.(AU)

Recientemente, las variantes patogénicas/probablemente patogénicas de la línea germinal bialélica de MSH3 han sido reconocidas como una causa rara de poliposis adenomatosa. Presentamos a una mujer de 49 años que ingresó en nuestra clínica de cáncer colorrectal de alto riesgo después de la detección incidental de una variante patógena probable de la línea germinal MSH3 bialélica cuando se analizó la línea germinal variantes patogénicas/probablemente patogénicas en genes hereditarios relacionados con el cáncer de mama y de ovario. El objetivo de este informe de caso es describir el genotipo y el fenotipo de nuestro paciente con poliposis adenomatosa relacionada con MSH3. Más de la mitad de los pólipos (13/19) se localizaron en el colon derecho. Además, las lesiones extraintestinales benignas y malignas pueden ser comunes, ya que nuestra paciente tenía quistes hepáticos y renales simples y dos carcinomas cutáneos de células basales.(AU)

MSH3-related adenomatous polyposis in a patient with the negative family history of colorectal polyps.

Recently, biallelic MSH3 germline pathogenic/likely pathogenic variants have been recognized as a rare cause of adenomatous polyposis. We present a 49-year-old woman who was admitted to our high-risk colorectal cancer clinic after incidental detection of a biallelic MSH3 (likely) pathogenic variant when tested for the germline (likely) pathogenic variants in hereditary breast and ovarian cancer related genes. The focus of this case report is to describe the genotype and phenotype of our patient with MSH3-related adenomatous polyposis. More than half of the polyps (13/19) were located in the right colon. In addition, benign and malignant extraintestinal lesions may be common as our patient had simple liver and kidney cysts and two basal cell skin carcinomas.

The "diagnose and leave in" strategy for diminutive rectosigmoid polyps in Lynch syndrome: a post hoc analysis from a randomized controlled trial.

BACKGROUND: The "diagnose-and-leave-in" policy has been established to reduce the risks and costs related to unnecessary polypectomies in the average-risk population. In individuals with Lynch syndrome, owing to accelerated carcinogenesis, the general recommendation is to remove all polyps, irrespective of size, location, and appearance. We evaluated the feasibility and safety of the diagnose-and-leave-in strategy in individuals with Lynch syndrome. METHODS : We performed a post hoc analysis based on per-polyp data from a randomized, clinical trial conducted by 24 dedicated colonoscopists at 14 academic centers, in which 256 patients with confirmed Lynch syndrome underwent surveillance colonoscopy from July 2016 to January 2018. In vivo optical diagnosis with confidence level for all detected lesions was obtained before polypectomy using virtual chromoendoscopy alone or with dye-based chromoendoscopy. Primary outcome was the negative predictive value (NPV) for neoplasia of high-confidence optical diagnosis among diminutive (≤ 5 mm) rectosigmoid lesions. Histology was the reference standard. RESULTS: Of 147 rectosigmoid lesions, 128 were diminutive. In 103 of the 128 lesions (81 %), the optical diagnostic confidence was high and showed an NPV of 96.0 % (95 % confidence interval [CI] 88.9 %-98.6 %) and accuracy of 89.3 % (95 %CI 81.9 %-93.9 %). By following the diagnose-and-leave-in policy, we would have avoided 59 % (75/128) of polypectomies at the expense of two diminutive low grade dysplastic adenomas and one diminutive sessile serrated lesion that would have been left in situ. CONCLUSION: In patients with Lynch syndrome, the diagnose-and-leave-in strategy for diminutive rectosigmoid polyps would be feasible and safe.

Survival outcomes and rate of missed upper gastrointestinal cancers at routine endoscopy: a single centre retrospective cohort study.

OBJECTIVES: Data on the long-term survival outcome of patients with missed upper gastrointestinal cancers (MUGC) is lacking. Retrospective studies have found no difference in 1- and 2-year survival among patients with missed gastric and oesophageal cancers; we thus aimed to assess 3-year survival of patients with MUGC at oesophagogastroduodenoscopy. METHODS: This was a retrospective cohort study conducted at a single tertiary endoscopy centre. All oesophagogastroduodenoscopies performed between January 2007 and December 2015 were included in the study. The endoscopy database was cross-matched with the Slovenian Cancer Registry database. Missed cancers were defined as those diagnosed within 36 months after a negative oesophagogastroduodenoscopy. RESULTS: During the study period, 29 617 oesophagogastroduodenoscopies were performed. In total, 422 upper gastrointestinal cancers were diagnosed and the rate of missed gastric cancers was 7.3% (95% CI, 4.9-10.6%) (26/354), and 4.4% (95% CI, 0.9-12.4%) for oesophageal cancers (3/68). Three-year survival of patients with MUGC was shorter than that of those with non-MUGC, being 12% (95% CI, 1-25%) vs. 31% (95% CI, 26-36%) (P = 0.043) for gastric and 0 vs. 9% (95% CI, 1-17%) (P = 0.121) for oesophageal cancer. CONCLUSION: Missed gastric cancer during oesophagogastroduodenoscopy may be associated with shorter 3-year survival compared to patients whose gastric cancer was diagnosed at index oesophagogastroduodenoscopy.

Simulation of the COVID-19 epidemic on the social network of Slovenia: Estimating the intrinsic forecast uncertainty.

In the article a virus transmission model is constructed on a simplified social network. The social network consists of more than 2 million nodes, each representing an inhabitant of Slovenia. The nodes are organised and interconnected according to the real household and elderly-care center distribution, while their connections outside these clusters are semi-randomly distributed and undirected. The virus spread model is coupled to the disease progression model. The ensemble approach with the perturbed transmission and disease parameters is used to quantify the ensemble spread, a proxy for the forecast uncertainty. The presented ongoing forecasts of COVID-19 epidemic in Slovenia are compared with the collected Slovenian data. Results show that at the end of the first epidemic wave, the infection was twice more likely to transmit within households/elderly care centers than outside them. We use an ensemble of simulations (N = 1000) and data assimilation approach to estimate the COVID-19 forecast uncertainty and to inversely obtain posterior distributions of model parameters. We found that in the uncontrolled epidemic, the intrinsic uncertainty mostly originates from the uncertainty of the virus biology, i.e. its reproduction number. In the controlled epidemic with low ratio of infected population, the randomness of the social network becomes the major source of forecast uncertainty, particularly for the short-range forecasts. Virus transmission models with accurate social network models are thus essential for improving epidemics forecasting.

Intramural Hematoma Causing Hematochezia After Colonoscopy With Polypectomy.

Intramural hematoma of the colon is a rare complication of colonoscopy. We present a case of a 78-year-old woman on warfarin who presented with hematochezia and hypotension due to intramural hematoma of the sigmoid colon after colonoscopy with polypectomy of small polyps in the right colon.

Fat burner-induced acute liver injury: Case series of four patients.

Dietary supplements known as "fat burners" are typically marketed with claims of increasing energy expenditure through alterations in fat metabolism. They are marketed as natural products and their use is thus perceived as a safe body weight reduction strategy. We report on five episodes of liver injury in four patients. Liver injury was associated with consumption of different commercially available fat burners: Green tea extract (Camellia sinensis), Garcinia gummi-gutta, green coffee beans, and spirulina (blue-green algae). The patients were admitted to the Department of Gastroenterology and Hepatology at the University Medical Center Ljubljana, in Slovenia, from May 2010 to July 2015. The first patient developed acute liver failure and had to be treated by liver transplantation. Second patient developed acute hepatitis that resolved spontaneously. Another patient required multiple surgical procedures due to severe hemorrhage after liver biopsy. The last patient was treated for two separate episodes of fat burner-induced liver injury after ingesting two different products, in 2010 and 2015. Liver biopsy was performed in all patients and histopathologic examination revealed no other cause of liver injury. Viral, autoimmune, and metabolic liver diseases were excluded, making unsupervised consumption of fat burners the most likely causative agent.

Novel biomarkers for early diagnosis of acute kidney injury after cardiac surgery in adults.

Acute kidney injury after cardiac surgery with cardiopulmonary bypass is a common and serious complication and it is associated with increased morbidity and mortality. Diagnosis of acute kidney injury is based on the serum creatinine levels which rise several hours to days after the initial injury. Thus, novel biomarkers that will enable faster diagnosis are needed in clinical practice. There are numerous urine and serum proteins that indicate kidney injury and are under extensive research. Despite promising basic research results and assembled data, which indicate superiority of some biomarkers to creatinine, we are still awaiting clinical application.