Guldagerbanks3213

in English, Italian Dopo una colecistectomia laparoscopica può accadere che in caso di perforazione intraoperatoria della colecisti, dei calcoli possano restare in addome. Viene presentato qui il caso di un laparocele in sede di trocar con 8 calcoli biliari trattenuti. Si tratta di una donna di 54 anni che si è presentata alla nostra clinica con un laparocele paraombelicale nel sito di un trocar. Un anno fa la paziente era stata sottoposta a colecistectomia laparoscopica in un altro ospedale. this website Pietre trattenute Mentre si preparava la paziente per il trattamento del lapaocele sono stati notati calcoli ritenuti nel sito del trocar. Il laparocele laparoscopico è stato riparato chirurgicamente, con la rimozione dei calcoli ritenuti sono state estratti dall’addome 8 calcoli di dimensioni fino a 2 cm. Questa sembra essere la prima evenienza di calcoli ritenuti nel laparocele di un trocar. CONCLUSIONE perforazioni della cistifellea sono comuni durante la colecistectomia laparoscopica a causa della trazione con una pinza o un’infiammazione. È necessario effettuare un’attenta ispezione della pietra di fuoriuscita.INTRODUCTION Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). Targeted Next Generation Sequencing (NGS) is a new opportunity to expand the existing pathogenic variants (PVs) spectrum associated to FH. Our aim was to report a diagnostic NGS-based approach to detect variants associated to FH. METHODS We report two patients a 48-year-old Asian woman, without known history of hypercholesterolemia and a 46-year-old Caucasian man, with childhood hypercholesterolemia. RESULTS An effective NGS-based pipeline, FH-Devyser kit/Amplicon Suite, beginning from sequencing to data analysis, did not identify known PVs in the LDLR, APOB, APOE, LDLRAP1, STAP1 and PCSK9 genes, but revealed two novel LDLR variants (c.1564A>T, p.Ile522Phe and c.1688C>T, p.Pro563Leu). DISCUSSION AND CONCLUSIONS This study showed that an effective NGS-based pipeline led to a definitive diagnosis in two FH families, allowing to plan their therapeutic treatment. Although the functional consequence of the two LDLR variants needs to be assessed in vitro, the in silico analysis and high preservation of the two amino acid positions observed in the LDLR protein, across different animal species, suggest that both variants are deleterious.INTRODUCTION Effect-based methods (EBMs), i.e. in vitro and in vivo bioassays, represent innovative tools for the effect detection of environmental chemical pollutants on living organisms. The aim of this study was to evaluate the water quality of a river ecosystem implementing two in vivo bioassays on target freshwater animal species the crustacean Daphnia magna and the small fish Danio rerio, also known as zebrafish. MATERIALS AND METHODS The methods applied in this study, i.e. the Daphnia sp. Acute Immobilisation assay and the Fish Embryo Acute Toxicity (FET) test, are commonly used in water quality research and their application in short-term ecotoxicity detection is suggested by recent European projects. Two sampling sites were chosen in the urban part of the Tiber River in Rome, while a third one was chosen as a reference site in the Farfa River, a tributary upstream of the city. The sites in the Tiber River are potentially affected by different pollution sources, including urban and industrial wastewater discharges, the pesticide release, livestock waste products, and waste dumps. RESULTS AND DISCUSSION The results of the study showed wide differences between the two applied bioassays. The FET test was generally more sensitive in detecting even low effects in all the water samples, but the strongest statistically results were observed with the D. magna Acute Immobilisation test. The results of this research confirm the effectiveness of EBMs in investigating and monitoring water chemical pollution, and stress the need for performing further studies, e.g. chemical analyses and other bioassays, to improve the knowledge of the health status of the Tiber River basin. CONCLUSIONS Further results will aim to support the local authorities in adopting measures to reduce and to eliminate the sources of chemical pollution in the study area.INTRODUCTION 22q11.2 microdeletion syndrome (22q11DS) is associated with a 25% risk of psychotic onset. MATERIALS AND METHODS The sample consist of 120 subjects 39 schizophrenics (SCZ); 20 siblings of schizophrenic patients (SIB); 34 22q11DS non-psychotic patients (DEL); 17 22q11DS psychotic patients (DEL_scz); 30 control subjects (CS). Social cognition was evaluated with the awareness of social interference test. Intelligence Quotient (IQ) was calculated with Wechsler Adult Intelligence Scale. TASIT (Awareness of Social Inference Test) performance was analyzed via MANOVA, including IQ as covariate. RESULTS Group and IQ showed significant effect (p less then 0.001; p = 0.037). The only TASIT variables where IQ showed no effect were paradoxical sarcasm; sincerity; lie. In sincerity, CS group shows a better performance than both 22q11DS groups (p less then 0.05). In paradoxical sarcasm and lie, CS group performed better than each clinical group (p less then 0.05). Regarding lie, DEL group was worst also respect to SCZ group (p = 0.029). CONCLUSIONS Our results show a specific social cognition deficit in 22q11DS and schizophrenia.INTRODUCTION This work evaluated the impact of a nutrition intervention in school children of 6th and 7th grade and assessed whether changes persisted after the summer break. MATERIALS AND METHODS Eight classes of Hungarian adolescents (45% boys; 12.6 ± 0.1 years) were randomized into intervention (n = 117) and control (n = 112) groups. The 9-month long intervention included 1) weekly classroom-based education with strong focus on practical elements such as tasting and meal preparation; 2) five sessions of after-school cooking classes (open to children, parents and grandparents); and 3) online education materials. Anthropometric parameters (weight, height, waist circumference and body fat), aerobic fitness (Cooper test, 20-meter shuttle run test), nutrition knowledge and behaviors (questionnaires) were measured three times at baseline, post-intervention and after the summer holiday. RESULTS Slight improvement in dietary knowledge and habits from baseline to post-intervention which did not persist after summer.