10 research outputs found

    Which differences do elderly patients present in single-stage treatment for cholecysto-choledocholithiasis?

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    AbstractPatients with symptomatic gallstones present common bile duct stones in approximately 10% of cases. It is possible to resolve both gallbladder and bile duct stones with a single procedure. The aim of this study is to determine the effectiveness of a single stage procedure for gallbladder and bile duct stones in the elderly patients and to expose the differences between the various techniques. From January 2008 to December 2013, we treated 1540 patients with gallbladder stones. In 152 cases, we also found bile duct stones. 150 of these were treated in a single stage procedure. We divided our patients into 2 groups: Group A was younger than 65 (104 patients); Group B was 65 or older (46 patients). We retrospectively compared sex, ASA score, conversion rate, success rate, post-operative complications, hospital stay, and treatment method. We had no intra-operative mortality. 1 patient in Group B, heart condition (ASA 4), died with multiple organ failure (MOF) 10 days after his operation. ASA score: 3.5 ± 0.5 in A vs 2 ± 0.9 in B (P 0.001), post-operative complications 6% in A vs 18.1% in B (P 0.0325) and hospital stay 4.1 ± 2.3 in A vs 9.5 ± 5.5 in B (P 0.0001) were significantly higher in Group B. No differences were found in term of success rate: 94% in A vs 90% in B (P 0.4944). The procedure used to obtain the clearance of the bile duct showed a different success rate across the two groups: for the patients under 65 years old, trans-cystic clearance (TC-CBDE) was successful in 90% of cases, and only 51% for those older than 65, where we had to recall 49% for laparo-endoscopic rendez-vous (RV-IOERC) (P 0.0014). In conclusion, single stage treatment is safe and effective also to elderly patients. The methods used in patients being younger than 65 years old is what appeared to be significantly different

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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    ABSTRACT: BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. RESULTS: We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. CONCLUSIONS: This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management

    Holistic Approach for Improved Safety Including a Proposal of New Virtual Test Conditions of Small Electric Vehicles

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    In the next 20 years the share of small electric vehicles (SEVs) will increase especially in urban areas. SEVs show distinctive design differences compared to traditional vehicles. Thus the consequences of impacts of SEVs with vulnerable road users (VRUs) and other vehicles will be different from traditional collisions. No assessment concerning vehicle safety is defined for vehicles within European L7e category currently. Focus of the elaborated methodology is to define appropriate test scenarios for this vehicle category to be used within a virtual tool chain. A virtual tool chain has to be defined for the realization of a guideline of virtual certification. The derivation and development of new test conditions for SEVs are described and are the main focus of this work. As key methodology a prospective methodical analysis under consideration of future aspects like pre-crash safety systems is applied. The studies show that certain collision types will be reduced in numbers and in average collision severity. Based on the evaluation following tests are proposed. Frontal: oblique (30°), test speed 35 km/h, 1,300kg Mobile Progressive Deformable Barrier (MPDB); Side: 90°, Advanced European Mobile Deformable Barrier (AE-MDB), barrier speed 40 km/h; Pedestrian safety: seven pedestrian impact locations, 2 speed ranges, four different percentiles. The proposed virtual testing procedure has to be based on well validated models and tools, which can be assumed to be available in the future. The focus of the presented work is on SEVs in L7e category, for which no specific, urban area relevant safety regulations are available. Overall occupant and VRU safety of future SEVs will increase significantly, if additionally to the standard crash tests the elaborated tests from the European Union (EU) initiative SafeEV are applied for the design of safety measures within L7e vehicle class

    Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

    No full text
    Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrom characterizes by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. recently mutations in the histone methy transferase MLL2 gene have been identified as its underlying cause. Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intro-exon juctions. The putative causal and possible functional effect of each nucleotide variant identified estimated by in silico prediction tools. We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification od a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecula mechanism underlying this disease, establish genotype-phenotype correlations and improve clinical management
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