Screening the Expression of ABCB6 in Erythrocytes Reveals an Unexpectedly High Frequency of Lan Mutations in Healthy Individuals

Lan is a high-incidence blood group antigen expressed in more than 99.9% of the population. Identification of the human ABC transporter ABCB6 as the molecular basis of Lan has opened the way for studies assessing the relation of ABCB6 function and expression to health and disease. To date, 34 ABCB6 sequence variants have been described in association with reduced ABCB6 expression based on the genotyping of stored blood showing weak or no reactivity with anti-Lan antibodies. In the present study we examined the red blood cell (RBC) surface expression of ABCB6 by quantitative flow cytometry in a cohort of 47 healthy individuals. Sequencing of the entire coding region of the ABCB6 gene in low RBC ABCB6 expressors identified a new allele (IVS9+1G>A, affecting a putative splice site at the boundary of exon 9) and two nonsynonymous SNPs listed in the SNP database (R192Q (rs150221689) and G588 S (rs145526996)). The R192Q mutation showed co-segregation with reduced RBC ABCB6 expression in a family, and we found the G588 S mutation in a compound heterozygous individual with undetectable ABCB6 expression, suggesting that both mutations result in weak or no expression of ABCB6 on RBCs. Analysis of the intracellular expression pattern in HeLa cells by confocal microscopy indicated that these mutations do not compromise overall expression or the endolysosomal localization of ABCB6. Genotyping of two large cohorts, containing 235 and 1039 unrelated volunteers, confirmed the high allele frequency of Lan-mutations. Our results suggest that genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought.This work was supported by the Lendulet Program of the Hungarian Academy of Sciences (GS), OTKA 83533 and by the Polish POIG grant 01.01.02-10-005/08 TESTOPLEK, supported by the EU through the European Regional Development Fund. Hajnalka Andrikovics is a recipient of the Janos Bolyai Research Scholarship from the Hungarian Academy of Sciences. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. We thank Dr. Camilo Toro and Dr. William Gahl of the NIH Undiagnosed Diseases Program for an affected patient specimen; that work was supported by the Intramural Research Program of the National Human Genome Research Institute and the Office of the Director of the NIH. We thank Lionel Arnaud (National Institute of Blood Transfusion (INTS), Paris, France) for helpful discussions

Transperitoneal laparoscopic pyeloplasty: Brazilian initial experience with 55 cases

PURPOSE: To evaluate prospectively the results obtained in 55 patients undergoing laparoscopic pyeloplasty through transperitoneal access. MATERIALS AND METHODS: From January 2005 to July 2009, fifty-five patients between 13 and 64 years old, were treated for ureteropelvic junction (UPJ) stenosis via a transperitoneal laparoscopy. All patients had clinical symptoms of high urinary obstruction and hydronephrosis confirmed by imaging methods. Anderson-Hynes dismembered pyeloplasty was performed in 51 patients and Fenger technique in the other 4 cases. Patients were clinically and imaging evaluated in the postoperative period at 3 and 6 months and then followed-up annually. RESULTS: The operative time ranged from 95 to 270 min. The mean hospital stay was 2 days. The average blood loss was 170 mL. The time to return to normal activities ranged from 10 to 28 days. Anomalous vessels were identified in 27 patients, intrinsic stenosis in 23 patients and 5 patients had high implantation of the ureter. Laparoscopic pyelolithotomy was successfully performed in 6 patients with associated renal stones. That series monitoring ranged from 1 to 55 months. One patient had longer urinary fistula (11 days), 3 patients had portal infection and 6 patients had prolonged ileus. There was one conversion due to technical difficulties. From the later postoperative complications, 2 patients had re-stenosis, one determined by Anderson-Hynes technique and the other by Fenger technique. The success rate was 95.65%. CONCLUSIONS: Laparoscopic pyeloplasty has functional results comparable to conventional open technique. It offers less morbidity, with aesthetic and post-operative convalescence benefits and lower complication rates

Experiences and perceptions of abused Turkish women regarding violence against women

Bahadir Yilmaz, Emel/0000-0003-1785-3539WOS: 000463787900017PubMed: 30353446This study qualitatively explored abused Turkish women's experiences and perceptions regarding violence against women. The research sample comprised 30 women who were seen by the police and referred to the Family Counseling Center between 2 October 2012 and 30 August 2013 due to domestic violence. Study data were collected using a Demographic Information Datasheet and a Semi-Structured Interview Form. Qualitative data were gathered using face-to-face interviews, which were transcribed verbatim then analyzed and interpreted to determine themes using the conceptual framework. Qualitative analysis yielded five themes: (1) being subjected to all types of violence; (2) everything is an excuse for violence; (3) forgetting what it is like to be a woman; (4) having to continue the marriage against her will; (5) being forced to do some things involuntarily in order to reduce the violence. In the light of these results, it seems that multidisciplinary approaches are required in order to support women both psychologically and socially. Women need to be supported in order to determine their mental health problems and to get the required medical assistance

Photobiont switching causes changes in the reproduction strategy and phenotypic dimorphism in the Arthoniomycetes

Abstract Phylogenetic analyses using mtSSU and nuITS sequences of Buellia violaceofusca (previously placed in Lecanoromycetes), a sterile, sorediate lichen having a trebouxioid photobiont, surprisingly prove that the species is conspecific with Lecanographa amylacea (Arthoniomycetes), a fertile, esorediate species with a trentepohlioid photobiont. These results suggest that L. amylacea and B. violaceofusca are photomorphs of the same mycobiont species, which, depending on the photobiont type, changes the morphology and the reproduction strategy. This is the first example of a lichenized fungus that can select between Trebouxia (Trebouxiophyceae) and trentepohlioid (Ulvophyceae) photobionts. Trebouxia photobionts from the sorediate morphotype belong to at least three different phylogenetic clades, and the results suggest that Lecanographa amylacea can capture the photobiont of other lichens such as Chrysothrix candelaris to form the sorediate morphotype. Phylogenetic analyses based on rbcL DNA data suggest that the trentepohlioid photobiont of L. amylacea is closely related to Trentepohlia isolated from fruticose lichens. The flexibility in the photobiont choice enables L. amylacea to use a larger range of tree hosts. This strategy helps the lichen to withstand changes of environmental conditions, to widen its distribution range and to increase its population size, which is particularly important for the survival of this rare species