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Hillian AD Londono D Dunn JM Goddard KA Pace RG Knowles MR Drumm ML;CF Gene Modifier Study Group 《Genes and immunity》2008,9(6):501-508
Cystic fibrosis pulmonary disease is characterized by excessive and prolonged inflammation. CF Pulmonary disease severity exhibits considerable variation that, to some extent, appears to be due to the presence of modifier genes. Several components of the inflammatory response are known to have altered regulation in the CF lung. Genetic variants in 52 inflammatory genes were tested for associations with lung disease indices in a CF patient population (n=737) homozygous for the DeltaF508 cystic fibrosis transmembrane conductance regulator mutation. Variants in three inflammatory genes showed significant genotypic associations with CF lung disease severity, including IL8 and previously reported TGFbeta1 (P< or =0.05). When analyzed by gender, it was apparent that IL8 variant associations were predominantly due to males. The IL8 variants were tested in an additional CF population (n=385) and the association in males verified (P< or =0.01). The IL8 variants were in strong linkage disequilibrium with each other (R2> or =0.82), while variants in neighboring genes CXCL6, RASSF6 and PF4V1 did not associate (P> or =0.26) and were in weaker LD with each other and with the IL8 variants (0.01< or =R2< or =0.49). Studies revealed differential expression between the IL8 promoter variant alleles (P<0.001). These results suggest that IL8 variants modify CF lung disease severity and have functional consequences. 相似文献
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Percutaneous incision and balloon catheter dilation of the ureteropelvic junction (UPJ) was performed in nine patients with secondary UPJ strictures. In all patients, the UPJ was successfully dilated, and no immediate complications were encountered. After a postoperative follow-up period of 4-27 months, six patients showed marked improvement on excretory urograms. Three patients had recurrent obstruction after 3-18 months. The 66% success rate of percutaneous balloon dilation with or without endopyelotomy compares favorably with the success rate of open surgical repair of secondary UPJ strictures in adults. 相似文献
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Mariana M. Lanata Huanyu Wang Kathy Everhart Melisa Moore-Clingenpeel Octavio Ramilo Amy Leber 《Emerging infectious diseases》2021,27(6):1588
Emergence of macrolide-resistant Mycoplasma pneumoniae (MRMp) challenges empiric macrolide therapy. Our goal was to determine MRMp rates and define characteristics of children infected with macrolide-sensitive M. pneumoniae (MSMp) versus MRMp in Ohio, USA. We cultured PCR-positive M. pneumoniae specimens and sequenced M. pneumoniae–positive cultures to detect macrolide resistance mutations. We reviewed medical records to compare characteristics of both groups. We identified 14 (2.8%) MRMp and 485 (97.2%) MSMp samples. Patients in these groups had similar demographics and clinical characteristics, but patients with MRMp had longer hospitalizations, were more likely to have received previous macrolides, and were more likely to have switched to alternative antimicrobial drugs. MRMp-infected patients also had ≈5-fold greater odds of pediatric intensive care unit admission. Rates of MRMp infections in children in central Ohio are low, but clinicians should remain aware of the risk for severe illness caused by these pathogens. 相似文献
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Kazumi Taguchi Sung Yong Cho Anthony CF Ng Manint Usawachintachit Yung‐Khan Tan Yao Liang Deng Cheng‐Huang Shen Prem Gyawali Husain Alenezi Abbas Basiri Sopheap Bou Tarmono Djojodemedjo Kemal Sarica Lei Shi Praveen Singam Shrawan Kumar Singh Takahiro Yasui 《International journal of urology》2019,26(7):688-709
The Urological Association of Asia, consisting of 25 member associations and one affiliated member since its foundation in 1990, has planned to develop Asian guidelines for all urological fields. The field of stone diseases is the third of its guideline projects. Because of the different climates, and social, economic and ethnic environments, the clinical practice for urinary stone diseases widely varies among the Asian countries. The committee members of the Urological Association of Asia on the clinical guidelines for urinary stone disease carried out a surveillance study to better understand the diversity of the treatment strategy among different regions and subsequent systematic literature review through PubMed and MEDLINE database between 1966 and 2017. Levels of evidence and grades of recommendation for each management were decided according to the relevant strategy. Each clinical question and answer were thoroughly reviewed and discussed by all committee members and their colleagues, with suggestions from expert representatives of the American Urological Association and European Association of Urology. However, we focused on the pragmatic care of patients and our own evidence throughout Asia, which included recent surgical trends, such as miniaturized percutaneous nephrolithotomy and endoscopic combined intrarenal surgery. This guideline covers all fields of stone diseases, from etiology to recurrence prevention. Here, we present a short summary of the first version of the guideline – consisting 43 clinical questions – and overview its key practical issues. 相似文献