Search results for "Cyst"

Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells.

2002

Summary Desmoglein 2 (Dsg2) is a Ca 2+ -dependent adhesion molecule of desmosomes and is synthesized in all desmosome-bearing tissues from their earliest appearance onward. To examine the function of Dsg2, its gene was inactivated by homologous recombination in embryonal stem (ES) cells for the generation of knockout mice. DSG2 −/− mice and a considerable number of DSG2 +/− mice died at or shortly after implantation. On the other hand, DSG2 −/− blastocysts developed an apparently normal trophectoderm layer, the first tissue known to produce desmosomes, and hatched properly. Immunofluorescence analyses of these blastocysts showed, however, that the distribution of the desmosomal plaque prote…

Association of ocular, cardiovascular, morphometric and lifestyle parameters with retinal nerve fibre layer thickness.

2017

BACKGROUND Glaucoma is a neurodegenerative disease, leading to thinning of the retinal nerve fibre layer (RNFL). The exact influence of ocular, cardiovascular, morphometric, lifestyle and cognitive factors on RNFL thickness (RNFLT) is unknown and was analysed in a subgroup of the Gutenberg Health Study (GHS). METHODS Global peripapillary RNFLT was measured in 3224 eyes of 1973 subjects (49% female) using spectral-domain optical coherence tomography (SD-OCT). The association of age, sex, ocular, cardiovascular, morphometric, lifestyle and cognitive factors on RNFLT was analysed using Pearson correlation coefficient and fitting a linear mixed model. RESULTS In the univariable analysis highest…

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women

2012

Abstract Background Acute myocardial infarction (AMI) in young women represent an extreme phenotype associated with a higher mortality compared with similarly aged men. Prothrombotic gene variants could play a role as risk factors for AMI at young age. Methods We studied Factor V Leiden, FII G20210A, MTHFR C677T and beta-fibrinogen -455G>A variants by real-time PCR in 955 young AMI (362 females) and in 698 AMI (245 females) patients. The data were compared to those obtained in 909 unrelated subjects (458 females) from the general population of the same geographical area (southern Italy). Results In young AMI females, the allelic frequency of either FV Leiden and of FII G20210A was signif…

Irreversible protein binding of acrylonitrile.

1981

1. After i.p. injection of [2,3-14C]acrylonitrile to rats, a significant portion of radioactivity becomes irreversibly attached to proteins of liver, lung, spleen and other tissues. 2. When rat liver microsomes were incubated with [2,3-14C]acrylonitrile, a time-dependent irreversible binding of radioactivity occurred to microsomal proteins. This binding was not dependent on NADPH. A high extent of binding to heat-inactivated microsomes indicated that no enzymic metabolic step was involved. 3. The irreversible binding of [2,3-14C]acrylonitrile to rat liver microsomal protein in vitro was inhibited by thiols (cysteine, glutathione, mercaptoethanol). The greatest inhibitory potency was display…

Benign multicystic mesothelioma: A case report of recurrent disease in a young adult with familiarity for renal cell carcinoma

2019

Benign multi-cystic peritoneal mesothelioma (BMCM) is a very rare disease (about 150 cases observed). The aetiology is currently little-known, and the data collected, without having achieved conclusive re sults, identify two possible causes: neoplastic and reactive inflammatory. This case report refers to a recidivism of BCMC in a patient whose brother, few months before, underwent a left nephrectomy and right renal Radio Frequency Termo Ablation (RFTA) for bilateral papillary renal cell carcinoma. For the recurring trend, the onset in a male young patient without chronic inflammatory diseases evidence, the presence of a first degree relative with a rare carcinoma we supposed a neoplastic a…

Pseudotumoral cystitis cystica of the urethra in a boy

1997

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

2014

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…

An unexpected surprise at the end of a "quiet" cholecystectomy. A case report and review of the literature

2012

BACKGROUND: Anatomic unexpected variations in biliary tree may be discovered during laparoscopic cholecystectomy. CASE REPORT: A 57-year-old man was admitted for abdominal pain, vomiting and mild jaundice. Abdominal ultrasonography revealed a gallbladder containing multiple stones and biliary sludge. All pre-operative investigations showed no anatomical variations in extrahepatic biliary tree. During surgical intervention an accessory extrahepatic duct, connecting the IV segment of the liver to the fundus of gallbladder, was discovered. CONCLUSIONS: Pre-operative routine investigations for gall stones diseases may not reveal anatomic variations of biliary tree.

Current status of laparoscopy for acute abdomen in Italy: a critical appraisal of 2012 clinical guidelines from two consecutive nationwide surveys wi…

2017

Background: Several authors have demonstrated the safety and feasibility of laparoscopy in selected cases of abdominal emergencies. The aim of the study was to analyse the current Italian practice on the use of laparoscopy in abdominal emergencies and to evaluate the impact of the 2012 national guidelines on the daily surgical activity. Methods: Two surveys (42 closed-ended questions) on the use of laparoscopy in acute abdomen were conducted nationwide with an online questionnaire, respectively, before (2010) and after (2014) the national guidelines publication. Data from two surveys were compared using Chi-square or Fisher’s exact test, and data were considered significant when p < 0.05…

Role and outcomes of laparoscopic cholecystectomy in the elderly.

2014

Abstract Introduction : Laparoscopic cholecystectomy is the standard of treatment for gallstones disease and acute colecystitis. The prevalence of this disease increases with age and the population is aging in industrialized countries. So, in this study we report our experience in the treatment of gallstone disease in elderly patients, particularly analyzing the outcomes of laparoscopic approach. Methods : Between January 2010 and May 2014 we performed a total of 1227 cholecystectomies. In this retrospective study age group was the primary independent variable: 351 patients were 65–79 years of age and 65 were 80 years of age or older. Results : Only 65 patients (5.3%) of all population had …