48 research outputs found

    Episode resembling immune complex disease after cholera vaccination

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    The case of a 25-year-old patient is reported who suffered from a syndrome similar to immune complex disease following cholera revaccination. The clinical picture included fever, muscle, joint and abdominal pain, vomiting, serositis, hepatitis, suspected myocarditis, anaemia and thrombocytopenia. Clinical symptoms subsided spontaneously within two weeks. This case illustrates a hazard of cholera vaccination so far not reported in the literatur

    Laparoscopy or laparotomy? A comparison of 240 patients with early-stage endometrial cancer

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    Background: This study aimed to compare the safety and efficacy of laparoscopy and laparotomy in the surgical treatment of early endometrial cancer, especially in obese women. Methods: The results obtained after laparoscopic surgical treatment of early endometrial cancer (International Federation of Gynecology and Obstetrics (FIGO) stage 1 or 2) in patients between 1996 and 2007 were compared with an age- and tumour-matched historical group of patients treated with laparotomy between 1988 and 1996. All the patients underwent hysterectomy, bilateral salpingo-oophorectomy, and pelvic ± paraaortic lymphadenectomy. Results: Both groups included 120 patients with a preoperative diagnosis of early endometrial cancer. The postoperative diagnosis was endometrial cancer stage 1 or 2 for 89% of the cases in both groups. The mean operating time was 170min for the laparotomy group compared with 178min for the laparoscopy group (nonsignificant difference). The estimated intraoperative blood loss was significantly greater in the laparotomy group, and the hospital stay was significantly shorter in the laparoscopy group. Conclusions: The results show that early endometrial cancer can be treated effectively by laparoscopy. Because of this study's retrospective design, the results should be interpreted with caution. However, the advantages of this method for obese patients are evident. The age and weight of these patients should not be used as a contraindication for laparoscop

    Quality assessment of a randomly selected sample of Swiss medical expertises : a pilot study

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    Background: Considerable criticism has lately been raised by the media regarding the quality of Swiss medical expertises. The present investigation was therefore undertaken to assess the professional quality of Swiss medical expertises. The study was part of a market analysis of medical expertises (MGS study). Methods: A sample of 97 anonymised expertises randomly chosen from a total of 3165, collected in the MGS study over a period of 3 months, were evaluated by an international board of medical experts and reviewers, using a stepwise developed questionnaire. Each expertise was independently evaluated by two experts. Data were then tested for plausibility (obvious errors and misunderstandings). The main outcome was the overall quality rating of the expertise that was graded from 1 (very poor) to 6 (excellent) in analogy to the Swiss school grading system. For analysis and interpretation the grades were divided into sufficient (grades >= 4) and insufficient (grades <4). Results: Overall 19.6% (95% confidence interval: 13.1%; 28.3%) of the expertises were rated to be of insufficient quality. The quality was inversely related to the number of involved medical disciplines, the time relapsed since injury and positively related to the difficulty of the expertise. In addition, expertises in the French and Italian languages were rated superior to those in German. Conclusions: Our results confirm recent criticisms that the professional quality of expertises does not suffice. This is hardly acceptable in face of the financial and personal consequences. There is an obvious need for further research using larger samples and for educational programmes on all levels

    Protein network analysis reveals selectively vulnerable regions and biological processes in FTD

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    Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

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    Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia

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    CXCR4 involvement in neurodegenerative diseases

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    Neurodegenerative diseases likely share common underlying pathobiology. Although prior work has identified susceptibility loci associated with various dementias, few, if any, studies have systematically evaluated shared genetic risk across several neurodegenerative diseases. Using genome-wide association data from large studies (total n = 82,337 cases and controls), we utilized a previously validated approach to identify genetic overlap and reveal common pathways between progressive supranuclear palsy (PSP), frontotemporal dementia (FTD), Parkinson's disease (PD) and Alzheimer's disease (AD). In addition to the MAPT H1 haplotype, we identified a variant near the chemokine receptor CXCR4 that was jointly associated with increased risk for PSP and PD. Using bioinformatics tools, we found strong physical interactions between CXCR4 and four microglia related genes, namely CXCL12, TLR2, RALB, and CCR5. Evaluating gene expression from post-mortem brain tissue, we found that expression of CXCR4 and microglial genes functionally related to CXCR4 was dysregulated across a number of neurodegenerative diseases. Furthermore, in a mouse model of tauopathy, expression of CXCR4 and functionally associated genes was significantly altered in regions of the mouse brain that accumulate neurofibrillary tangles most robustly. Beyond MAPT, we show dysregulation of CXCR4 expression in PSP, PD, and FTD brains, and mouse models of tau pathology. Our multi-modal findings suggest that abnormal signaling across a 'network' of microglial genes may contribute to neurodegeneration and may have potential implications for clinical trials targeting immune dysfunction in patients with neurodegenerative diseases.We thank the International FTD-GWAS Consortium (IFGC), International Parkinson’s Disease Genomic Consortium (IPDGC) and International Genomics of Alzheimer’s Project (IGAP) for providing summary statistics data for these analyses. Further acknowledgments for IFGC, IPDGC and IGAP are found in the Supplemental material. This research was supported by grants from the National Institutes of Health (NIH-AG046374 [CMK] and K01 AG049152 [JSY]), Larry J. Hillblom Foundation (2016-A-005-SUP [JSY]), Research Council of Norway (#213837, #225989, #223273, and #237250/EU JPND [OAA]), South East Norway Health Authority (2013-123), Norwegian Health Association, the Radiological Society of North America (RMS1741 [LWB]) (RSD), ASNR Foundation AD Imaging Award (RSD), National Alzheimer’s Coordinating Center (NACC) Junior Investigator (JI) Award (RSD), the Tau Consortium (JSY), and Alzheimer's Society grant 284 (RF)

    Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

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    Background: Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are associated with increased FTD risk, a systematic investigation of genetic overlap between immune-mediated diseases and the spectrum of FTD-related disorders has not been performed. Methods and findings: Using large genome-wide association studies (GWASs) (total n = 192,886 cases and controls) and recently developed tools to quantify genetic overlap/pleiotropy, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with FTD-related disorders\u2014namely, FTD, corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), and amyotrophic lateral sclerosis (ALS)\u2014and 1 or more immune-mediated diseases including Crohn disease, ulcerative colitis (UC), rheumatoid arthritis (RA), type 1 diabetes (T1D), celiac disease (CeD), and psoriasis. We found up to 270-fold genetic enrichment between FTD and RA, up to 160-fold genetic enrichment between FTD and UC, up to 180-fold genetic enrichment between FTD and T1D, and up to 175-fold genetic enrichment between FTD and CeD. In contrast, for CBD and PSP, only 1 of the 6 immune-mediated diseases produced genetic enrichment comparable to that seen for FTD, with up to 150-fold genetic enrichment between CBD and CeD and up to 180-fold enrichment between PSP and RA. Further, we found minimal enrichment between ALS and the immune-mediated diseases tested, with the highest levels of enrichment between ALS and RA (up to 20-fold). For FTD, at a conjunction false discovery rate < 0.05 and after excluding SNPs in linkage disequilibrium, we found that 8 of the 15 identified loci mapped to the human leukocyte antigen (HLA) region on Chromosome (Chr) 6. We also found novel candidate FTD susceptibility loci within LRRK2 (leucine rich repeat kinase 2), TBKBP1 (TBK1 binding protein 1), and PGBD5 (piggyBac transposable element derived 5). Functionally, we found that the expression of FTD\u2013immune pleiotropic genes (particularly within the HLA region) is altered in postmortem brain tissue from patients with FTD and is enriched in microglia/macrophages compared to other central nervous system cell types. The main study limitation is that the results represent only clinically diagnosed individuals. Also, given the complex interconnectedness of the HLA region, we were not able to define the specific gene or genes on Chr 6 responsible for our pleiotropic signal. Conclusions: We show immune-mediated genetic enrichment specifically in FTD, particularly within the HLA region. Our genetic results suggest that for a subset of patients, immune dysfunction may contribute to FTD risk. These findings have potential implications for clinical trials targeting immune dysfunction in patients with FTD

    A huge mucinous cystadenoma of ovarian: a rare case report and review of the literature

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    We report a case of a 63-years-old woman with a ten years history of increasing abdominal girth with associated abdominal pain. Abdomino-pelvic ultrasound and computed tomography scan revealed a large left ovarian cyst. The patient underwent laparotomy, resection of ovarian cyst and hysterectomy with bilateral ovarian resection. The removed huge mucinous cystadenoma, weighed 27 kg. Her post-operative course was unremarkable
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