Multigene panel testing increases the number of loci associated with gastric cancer predisposition

The main gene involved in gastric cancer (GC) predisposition is CDH1, the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). CDH1 only explains a fraction (10–50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testing on selected patients. We searched for germline pathogenic variants in 94 cancer-related genes in 96 GC or LBC Italian patients with early-onset and/or family history of GC. We found CDH1 pathogenic variants in 10.4% of patients. In 11.5% of cases, we identified loss-of-function variants in BRCA1, BRCA2, PALB2, and ATM breast/ovarian cancer susceptibility genes, as well as in MSH2, PMS2, BMPR1A, PRF1, and BLM genes. In 78.1% of patients, we did not find any variants with clear-cut clinical significance; however, 37.3% of these cases harbored rare missense variants predicted to be damaging by bioinformatics tools. Multigene panel testing decreased the number of patients that would have otherwise remained genetically unexplained. Besides CDH1, our results demonstrated that GC pathogenic variants are distributed across a number of susceptibility genes and reinforced the emerging link between gastric and breast cancer predisposition.This research was supported by the Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, by the Italian Ministry of Education, University and Research (MIUR)—Dipartimenti di Eccellenza Program (2018–2022)—Department of Biology and Biotechnology L. Spallanzani, University of Pavia, and by the Dunia Beam Erasmus Mundus project (fellowship to R.A.K.)

Adult brain abscess associated with patent foramen ovale: a case report

Brain abscess results from local or metastatic septic spread to the brain. The primary infectious site is often undetected, more commonly so when it is distant. Unlike pediatric congenital heart disease, minor intracardiac right-to-left shunting due to patent foramen ovale has not been appreciated as a cause of brain abscess in adults. Here we present a case of brain abscess associated with a patent foramen ovale in a 53-year old man with dental-gingival sepsis treated in the intensive care unit. Based on this case and the relevant literature we suggest a link between a silent patent foramen ovale, paradoxic pathogen dissemination to the brain, and development of brain abscess

Spontaneous perforated duodenal diverticulum: wait or cut first?

Perforation of a duodenal diverticulum is one of the rarest but most serious complications of duodenal diverticula. For the past 30 years, the mortality rate has remained at 6%. Though emergency surgery is the standard therapeutic option, it may increase morbidity and mortality due to surgical complications. Therefore, initial nonoperative management should be considered in selected older patients

Debris-Filled Duodenal Diverticulum and Lemmel's Syndrome

We report a case of a 73-year-old woman affected by Lemmel's syndrome, a rare type of obstructive jaundice caused by a periampullary duodenal diverticulum. The patient was admitted to the Emergency Department for pneumonia associated with mild epigastric pain and vomiting. While hospitalized for antibiotic treatment, the appearance of jaundice led us to discover a periampullary duodenal diverticulum by endoscopy and CT scan. The jaundice was successfully managed endoscopically with removal of food debris from the diverticulum

Relationship between echotextural and histomorphometric characteristics of stallion testes

The goal of this study was to investigate correlations between objective measures of testicular echotexture and histomorphometric attributes related to the histological composition of stallion testes. Fifty-four scrotal testes were obtained from three groups of stallions during routine castrations: colts <1 yr old (n = 18), young stallions 1–5 yrs old (n = 27), mature stallions > 5 yrs old (n = 9). In addition, two scrotal testes with degeneration, 16 retained inguinal and 10 retained abdominal testes were surgically obtained. Cross-sectional and longitudinal ultrasonograms were obtained for each testis. Mean numerical pixel values (NPVs) as well as pixel standard deviations (PSDs) were determined for each image (ImageJ-1.5 software). Histomorphometric attributes of the seminiferous tubules (STs) were derived (three tissue samples per each testis) using image analysis software [relative STs area: RSTA = ST area/total cross-sectional area (TA) x 100%; relative STs lumen: RSTL = ST lumen area/TA x 100%; individual ST area; ISTA; individual ST lumen: ISTL; seminiferous epithelium height: SHE]. Degree of fibrosis was graded semi-quantitatively (0–3) in samples from 17 testes. All measures of testicular echotexture as well as all histomorphometric attributes of STs had highest values when obtained from the scrotal testes of young and mature stallions (P < 0.05). The NPVs and PSDs from the ultrasonographic images of the scrotal testes were significantly correlated with all histomorphometric attributes of STs (P < 0.001). However, there was no correlation between the majority of these measures and attributes if each group of the scrotal testes was analyzed separately. The NPVs from the ultrasonographic images of the retained inguinal testes were correlated with RSTA, RSTL, ISTA, and ISTL, while the NPVs from the retained abdominal testes were not correlated with any of the histomorphometric attributes of the STs. Testes with high degree of fibrosis had variable values of pixel intensity and pixel heterogeneity. Based on the results of this study, we concluded that the pixel intensity and pixel heterogeneity of stallion testes increase during the first year of life and remain stable in young and mature stallions. These changes occur in parallel to the development of the seminiferous tubules. Testicular echogenicity in stallions does not seem to reflect degree of testicular fibrosis. Retained abdominal testes have lower and less heterogeneous echogenicity than scrotal testes from stallions that are more than one year old. While pixel analysis cannot replace biopsy in assessing testicular histomorphology in young and mature stallions, testicular echogenicity is a good indicator of peri-pubertal growth and expansion of the seminiferous tubules

Destiny for rendezvous: is cholecysto/choledocholithiasis better treated with dual-or single-step procedures?

Biliary lithiasis is common worldwide, affecting almost 20% of the general population, though few experience symptoms. The frequency of choledocholithiasis in patients with symptomatic cholelithiasis is estimated to be 10-33%, depending on patients' age. Unlike gallbladder lithiasis, the medical and surgical treatment of common bile duct stones is uncertain, having changed over the last few years. The prior gold standard treatment for cholelithiasis and choledocholithiasis was open cholecystectomy with bile duct clearance, choledochotomy, and/or surgical sphincterotomy. In the last 10-15 years, new treatment approaches to the complex pathology of choledocholithiasis have emerged with the advent of endoscopic retrograde cholangiopancreatography (ERCP), laparoscopic surgery, and advanced diagnostic procedures. Although ERCP followed by laparoscopic cholecystectomy is the preferred mode of management, a single-step strategy (laparo-endoscopic rendezvous) has gained acceptance due to lesser morbidity and a lower risk of iatrogenic damage. Given the above, a tailored approach relying on careful evaluation of the disease is necessary in order to minimize complication risks and overall costs. Yet, the debate remains open, with no consensus on the superiority of laparo-endoscopic rendezvous to more conventional approaches

Duodenal follicular lymphoma: track or treat?

Duodenal follicular lymphoma (DFL) is a rare variety of non-Hodgkin's lymphoma of the gastrointestinal tract that usually carries a favorable course, recognized as a new entity in 2016. It is usually diagnosed at an early stage located predominantly in the second portion of the duodenum. We report the case of a 74-year-old male patient with epigastric pain in whom gastroscopy revealed white mucosal nodules that were pathologically diagnosed as grade 1-2 DFL. Staging investigations revealed secondary lesions in the spleen and at the base of the tongue together with latero-cervical adenopathy. The tumor was stage IV according to the Lugano staging system. We reviewed the recent (last five years) literature defining the importance of combination therapy in the advanced stage. The patient achieved complete remission of the disease through chemoimmunotherapy following the Rituximab-Bendamustine scheme

Destiny for Rendezvous: Is Cholecysto/Choledocholithiasis Better Treated with Dual- or Single-Step Procedures?

Biliary lithiasis is common worldwide, affecting almost 20% of the general population, though few experience symptoms. The frequency of choledocholithiasis in patients with symptomatic cholelithiasis is estimated to be 10–33%, depending on patients' age. Unlike gallbladder lithiasis, the medical and surgical treatment of common bile duct stones is uncertain, having changed over the last few years. The prior gold standard treatment for cholelithiasis and choledocholithiasis was open cholecystectomy with bile duct clearance, choledochotomy, and/or surgical sphincterotomy. In the last 10–15 years, new treatment approaches to the complex pathology of choledocholithiasis have emerged with the advent of endoscopic retrograde cholangiopancreatography (ERCP), laparoscopic surgery, and advanced diagnostic procedures. Although ERCP followed by laparoscopic cholecystectomy is the preferred mode of management, a single-step strategy (laparo-endoscopic rendezvous) has gained acceptance due to lesser morbidity and a lower risk of iatrogenic damage. Given the above, a tailored approach relying on careful evaluation of the disease is necessary in order to minimize complication risks and overall costs. Yet, the debate remains open, with no consensus on the superiority of laparo-endoscopic rendezvous to more conventional approaches