Browsing by Publisher "Nature Publishing Group"

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    Genetic screening in adolescents with steroid-resistant nephrotic syndrome
    (Nature Publishing Group, 2013) Lipska B.S.; Iatropoulos P.; Maranta R.; Caridi G.; Ozaltin F.; Anarat A.; Balat A.; Gellermann J.; Trautmann A.; Erdogan O.; Saeed B.; Emre S.; Bogdanovic R.; Azocar M.; Balasz-Chmielewska I.; Benetti E.; Caliskan S.; Mir S.; Melk A.; Ertan P.; Baskin E.; Jardim H.; Davitaia T.; Wasilewska A.; Drozdz D.; Szczepanska M.; Jankauskiene A.; Higuita L.M.S.; Ardissino G.; Ozkaya O.; Kuzma-Mroczkowska E.; Soylemezoglu O.; Ranchin B.; Medynska A.; Tkaczyk M.; Peco-Antic A.; Akil I.; Jarmolinski T.; Firszt-Adamczyk A.; Dusek J.; Simonetti G.D.; Gok F.; Gheissari A.; Emma F.; Krmar R.T.; Fischbach M.; Printza N.; Simkova E.; Mele C.; Marco Ghiggeri G.; Schaefer F.
    Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome. © 2013 International Society of Nephrology.
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    Chandelier retroillumination-assisted cataract surgery during vitrectomy
    (Nature Publishing Group, 2016) Bilgin S.; Kayikcioglu O.
    Purpose To present an alternative cataract surgical technique in patients with cataract and intravitreal hemorrhage.MethodsTwelve cases with poor fundus reflex caused by severe vitreus hemorrhage were included in the study. All patients underwent combined phaco surgery and 23-gauge vitrectomy. Chandelier retroillumination was inserted into the infusion trochar during the cataract operations and was used with low power (50-75%) in necessary steps.ResultsWe did not experience phaco complications or complications due to technique during surgery. Retroillumination assistance was especially useful during final stages of cataract surgery, particularly irrigation-aspiration of cortical material.ConclusionRetroillumination in absence of red fundus reflex may be helpful and can be practiced more often in cataract surgery combined with vitrectomy.
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    Evaluation of sexual functions and marital adjustment of pregnant women in Turkey
    (Nature Publishing Group, 2016) Yanikkerem E.; Goker A.; Ustgorul S.; Karakus A.
    The aim of this study was to evaluate pregnant women's sexual function and marital adjustment. The sample of the study included 298 women, and it was evaluated using Golombok Rust Inventory of Sexual Satisfaction (GRISS) Scale and Marital Adjustment Scale. The most important reasons for decreasing the frequency of sexual intercourse included the fear of harming the fetus during intercourse (62.1%), fear of having miscarriage (47.8%) and decreased sexual desire (34.7%). It was found that women with sexual dysfunction had a significantly lower educational level, were living with three or more people in their home, were multiparious, had an unplanned pregnancy, reported pain during sexual intercourse and felt that their sexual life was very affected during pregnancy. The findings of the study showed that women had ≥5 points for GRISS for the subscales as follows: infrequency (47.3%), non-communication (57.4%), dissatisfaction (15.4%), avoidance (6.4%), non-sensuality (19.1%), vaginismus (28.9%), anorgasmia (29.9%) and sexual dysfunction (17.4%). In conclusion, women who were living with three or more people at home, had lower income level, were smoking and had an unplanned pregnancy scored under 43.5 of MAS. It was found negative and there was a medium correlation between MAS score and total GRISS score. © 2016 Macmillan Publishers Limited, part of Springer Nature.
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    Multicenter evaluation of crystal violet decolorization assay (CVDA) for rapid detection of isoniazid and rifampicin resistance in Mycobacterium tuberculosis
    (Nature Publishing Group, 2016) Coban A.Y.; Akbal A.U.; Bicmen C.; Albay A.; Sig A.K.; Uzun M.; Selale D.S.; Ozkutuk N.; Surucuoglu S.; Albayrak N.; Ucarman N.; Ozkutuk A.; Esen N.; Ceyhan I.; Ozyurt M.; Bektore B.; Aslan G.; Delialioğlu N.; Alp A.
    The aim of this multicenter study was to evaluate the performance of the crystal violet decolorization assay (CVDA) for detection of multidrug resistant tuberculosis (MDR-TB). This study was performed in 11 centers in two phases. A total of 156 isolates were tested for INH and RIF resistance. In the phase I, 106 clinical isolates were tested in the Center 1–7. In the phase 2, 156 clinical isolates were tested in the center 1–6, center 8–11. Eighty six of 156 tested isolates were the same in phase I. Agreements were 96.2–96.8% for INH and 98.1–98.7% for RIF in the phase I-II, respectively. Mean time to obtain the results in the phase I was 14.3 ± 5.4 days. In the phase II, mean time to obtain the results was 11.6 ± 3.5 days. Test results were obtained within 14days for 62.3% (66/106) of isolates in the phase I and 81.4% (127/156) of isolates in the phase II. In conclusion, CVDA is rapid, reliable, inexpensive, and easy to perform for rapid detection of MDR-TB isolates. In addition, it could be adapted for drug susceptibility testing with all drugs both in developed and developing countries. © 2016, The Author(s).