50 research outputs found

    Neue KrankheitssuszeptibilitĂ€tsgene bei chronisch entzĂŒndlichen Darmerkrankungen und deren phĂ€notypische Auswirkungen

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    Bringing People to Good Food and Good Food to People: Enhancing food access through transportation and land use policies

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    This report examined links between transportation and food access in South Los Angeles and recommends ways to increase access to healthy food through transportation and land use programs and policies. The report is the product of Food Access and Transportation in South Los Angeles project, a collaboration between the Community Redevelopment Agency of the City of Los Angeles (CRA/LA), the Urban & Environmental Policy Institute at Occidental College (UEPI), and Esperanza Community Housing Corporation (Esperanza). The recommendations were developed through research of best practices and policies throughout the country; surveys of food retail stores and mobile food vendors in the project area; mapping of food retail locations and transportation routes in the project area; and the experiences of the project partners in working on food access issues in low-income communities in Los Angeles

    PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn's disease and affect NF-ÎșB and XBP1 binding sites.

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    Genome-wide association studies identified a PTGER4 expression-modulating region on chromosome 5p13.1 as Crohn's disease (CD) susceptibility region. The study aim was to test this association in a large cohort of patients with inflammatory bowel disease (IBD) and to elucidate genotypic and phenotypic interactions with other IBD genes. A total of 7073 patients and controls were genotyped: 844 CD and 471 patients with ulcerative colitis and 1488 controls were analyzed for the single nucleotide polymorphisms (SNPs) rs4495224 and rs7720838 on chromosome 5p13.1. The study included two replication cohorts of North American (CD: n = 684; controls: n = 1440) and of German origin (CD: n = 1098; controls: n = 1048). Genotype-phenotype, epistasis and transcription factor binding analyses were performed. In the discovery cohort, an association of rs4495224 (p = 4.10×10⁻⁔; 0.76 [0.67-0.87]) and of rs7720838 (p = 6.91×10⁻⁎; 0.81 [0.71-0.91]) with susceptibility to CD was demonstrated. These associations were confirmed in both replication cohorts. In silico analysis predicted rs4495224 and rs7720838 as essential parts of binding sites for the transcription factors NF-ÎșB and XBP1 with higher binding scores for carriers of the CD risk alleles, providing an explanation of how these SNPs might contribute to increased PTGER4 expression. There was no association of the PTGER4 SNPs with IBD phenotypes. Epistasis detected between 5p13.1 and ATG16L1 for CD susceptibility in the discovery cohort (p = 5.99×10⁻⁷ for rs7720838 and rs2241880) could not be replicated in both replication cohorts arguing against a major role of this gene-gene interaction in the susceptibility to CD. We confirmed 5p13.1 as a major CD susceptibility locus and demonstrate by in silico analysis rs4495224 and rs7720838 as part of binding sites for NF-ÎșB and XBP1. Further functional studies are necessary to confirm the results of our in silico analysis and to analyze if changes in PTGER4 expression modulate CD susceptibility

    COVID-19 atypical Parsonage-Turner syndrome: a case report

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    Background Neurological manifestations of Sars-CoV-2 infection have been described since March 2020 and include both central and peripheral nervous system manifestations. Neurological symptoms, such as headache or persistent loss of smell and taste, have also been documented in COVID-19 long-haulers. Moreover, long lasting fatigue, mild cognitive impairment and sleep disorders appear to be frequent long term neurological manifestations after hospitalization due to COVID-19. Less is known in relation to peripheral nerve injury related to Sars-CoV-2 infection. Case presentation We report the case of a 47-year-old female presenting with a unilateral chest pain radiating to the left arm lasting for more than two months after recovery from Sars-CoV-2 infection. After referral to our post-acute outpatient service for COVID-19 long haulers, she was diagnosed with a unilateral, atypical, pure sensory brachial plexus neuritis potentially related to COVID-19, which occurred during the acute phase of a mild Sars-CoV-2 infection and persisted for months after resolution of the infection. Conclusions We presented a case of atypical Parsonage-Turner syndrome potentially triggered by Sars-CoV-2 infection, with symptoms and repercussion lasting after viral clearance. A direct involvement of the virus remains uncertain, and the physiopathology is unclear. The treatment of COVID-19 and its long-term consequences represents a relatively new challenge for clinicians and health care providers. A multidisciplinary approach to following-up COVID-19 survivors is strongly advised

    The INTERNATIONAL MISSION study: minimally invasive surgery in ovarian neoplasms after neoadjuvant chemotherapy

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    OBJECTIVES: The aim of this retrospective multicenter study was to investigate the extent, feasibility, and outcomes of minimally invasive surgery at the time of interval debulking surgery in different gynecological cancer centers. METHODS/MATERIALS: In December 2016, 20 gynecological cancer centers were contacted by e-mail, to participate in the INTERNATIONAL MISSION study. Seven centers confirmed and five were included, with a total of 127 patients diagnosed with advanced epithelial ovarian cancer after neoadjuvant chemotherapy and minimally invasive interval surgery. Only women with a minimum follow-up time of 6 months from interval surgery or any cancer-related event before 6 months were included in the survival analysis. Baseline characteristics, chemotherapy, and operative data were evaluated. Survival analysis was evaluated using the Kaplan-Meier method. RESULTS : All patients had optimal cytoreduction at the time of interval surgery: among them, 122 (96.1%) patients had no residual tumor. Median operative time was 225 min (range 60 - 600) and median estimated blood loss was 100 mL (range 70 - 1320). Median time to discharge was 2 days (1-33) and estimated median time to start chemotherapy was 20 days (range 15 - 60). Six (4.7%) patients experienced intraoperative complications, with one patient experiencing two serious complications (bowel and bladder injury at the same time). There were six (4.7%) patients with postoperative short-term complications: among them, three patients had severe complications. The conversion rate to laparotomy was 3.9 %. Median follow-up time was 37 months (range 7 - 86): 74 of 127 patients recurred (58.3%) and 31 (24.4%) patients died from disease. Median progression-free survival was 23 months and survival at 5 years was 52 % (95% CI: 35 to 67). CONCLUSIONS: Minimally invasive surgery may be considered for the management of patients with advanced ovarian cancer who have undergone neoadjuvant chemotherapy, when surgery is limited to low-complexity standard cytoreductive procedures

    Analysis of transcription factor binding sites in the DNA sequences surrounding SNPs rs4495224 and rs7720838 applying the program TFsearch.

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    <p>Note:</p>#<p>Nucleotides in the genomic sequences according with the consensus sequences are <u>underlined</u> and the polymorphic nucleotide is marked in <b>bold</b>.</p>‡<p>Predicted binding scores differing more than 5 points between CD risk alleles and protective alleles are depicted in <b>bold</b>. Scores differing 10 points and more are depicted in <b><i>bold italic</i></b>. Binding score threshold for each allele was set to 75.0. Nucleotide codes: K = G or T, M = A or C, R = A or G, S = C or G, W = A or T, Y = C or T, N = A, G, C or T.</p
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