79 research outputs found

    KARTAGENER SYNDROME

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    Kartagener sendromu otozomal resesif geçişli sinüzit, bronşektazi, situs inversus ile karakterize ender görülen bir hastalıktır. Bu makalede, kliniğimizde Kartagener sendromu tanısı ile izlediğimiz iki olgunun klinik ve radyolojik bulguları verilmiştir. Olgular kronik rinosinüzit ve bronşektazisi olan çocuklarda Kartagener sendromunun olası bir tanı olarak akılda tutulması gerekliliğini vurgulamak amacıyla takdim edilmiştir. The Kartagener syndrome is a rare autosomal recessive disorder characterized by bronchiectasis, sinusitis, sinus inversus. Clinical and radiological features of two cases followed in our clinic are given in this article. These cases are presented to emphasize that Kartagener syndrome should be considered as a possible diagnosis in children with chronic rhinosinusitis and bronchiectasis

    First-line treatment of patients with HER2-positive metastatic gastric and gastroesophageal junction cancer

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    Fluoropyrimidine+cisplatin/oxaliplatin+trastuzumab therapy is recommended for the first-line treatment of HER2-positive metastatic gastric adenocarcinoma. However, there is no comprehensive study on which platinum-based treatment should be preferred. This study aimed to compare the treatment response and survival characteristics of patients with HER2-positive metastatic gastric or gastroesophageal junction (GEJ) cancer who received fluorouracil, oxaliplatin, and leucovorin (mFOLFOX)+trastuzumab or cisplatin and fluorouracil (CF)+trastuzumab as first-line therapy. It was a multicenter, retrospective study of the Turkish Oncology Group, which included 243 patients from 21 oncology centers. There were 113 patients in the mFOLFOX+trastuzumab arm and 130 patients in the CF+trastuzumab arm. The median age was 62 years in the mFOLFOX+trastuzumab arm and 61 years in the CF+trastuzumab arm (P = 0.495). 81.4% of patients in the mFOLFOX+trastuzumab arm and 83.1% in the CF+trastuzumab arm had gastric tumor localization (P = 0.735). The median progression-free survival (PFS) was significantly higher in the mFOLFOX+trastuzumab arm (9.4 months vs. 7.3 months, P = 0.024). The median overall survival (OS) was similar in both groups (18.4 months vs. 15.1 months, P = 0.640). Maintenance trastuzumab was continued after chemotherapy in 101 patients. In this subgroup, the median OS was 23.3 months and the median PFS was 13.3 months. In conclusion, mFOLFOX+trastuzumab is similar to CF+trastuzumab in terms of the median OS, but it is more effective in terms of the median PFS in the first-line treatment of HER2-positive metastatic gastric and GEJ cancer. The choice of treatment should be made by considering the prominent toxicity findings of the chemotherapy regimens

    The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

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    Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10-12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10-14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10-103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10-49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10-93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10-23 and OR = 3.39, P = 5.2 × 10-82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk

    Cryosurgical treatment of gingival melanin pigmentation with tetrafluoroethane

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    WOS: 000245707400003PubMed ID: 17141535Objective. To introduce 1,1,1,2 tetrafluoroethane (TFE), as a new material for cryosurgery of gingival melanin pigmentation (GMP). Study design. Twenty-one patients with GMP were treated using a TFE-cooled cotton swab. Standard digital images of pigmented areas were measured preoperatively and postoperatively with image-analyzing software. The Mann-Whitney U test was used for statistical analysis. Results. Keratinization was completed 3 to 4 weeks after application, without any trace of pigmentation. Statistical analysis revealed a significant difference between preoperative and postoperative measurements of pigmented areas (P <.05). During the follow-up period, no side effects were observed and improved esthetics were maintained up to month 30. Conclusions. The clinical outcomes of cryosurgery with TFE for treatment of GMP are very satisfactory. The use of TFE for cryosurgical treatment of GMP is practical and inexpensive. Moreover, unlike other cryosurgery methods no special equipment is required, and it is safe to store in the dental clinic

    Thiourea-Catalyzed Direct Reductive Amination of Aldehydes

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