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Kolokotroni O.,Cyprus University of Technology | Kolokotroni O.,University of Nicosia | Middleton N.,Cyprus University of Technology | Gavatha M.,Archbishop Makarios III Hospital | And 3 more authors.
BMC Pediatrics

Background: Studies on the association of birth by caesarean section (C/S) and allergies have produced conflicting findings. Furthermore, evidence on whether this association may differ in those at risk of atopy is limited. This study aims to investigate the association of mode of delivery with asthma and atopic sensitization and the extent to which any effect is modified by family history of allergies.Methods: Asthma outcomes were assessed cross-sectionally in 2216 children at age 8 on the basis of parents' responses to the ISAAC questionnaire whilst skin prick tests to eleven aeroallergens were also performed in a subgroup of 746 children. Adjusted odds ratios of asthma and atopy by mode of delivery were estimated in multivariable logistic models while evidence of effect modification was examined by introducing interaction terms in the models.Results: After adjusting for potential confounders, children born by C/S appeared significantly more likely than those born vaginally to report ever wheezing (OR 1.36, 95% CI 1.07-1.71), asthma diagnosis (OR 1.41, 95% CI 1.09-1.83) and be atopic (OR 1.67, 95% CI 1.08-2.60). There was modest evidence that family history of allergies may modify the effect of C/S delivery on atopy (p for effect modification=0.06) but this was not the case for the asthma outcomes. Specifically, while more than a two-fold increase in the odds of being a topic was observed in children with a family history of allergies if born by C/S (OR 2.62, 95% CI 1.38-5.00), no association was observed in children without a family history of allergies (OR 1.16, 95% CI 0.64-2.11).Conclusions: Birth by C/S is associated with asthma and atopic sensitization in childhood. The association of C/S and atopy appears more pronounced in children with family history of allergies. © 2012 Kolokotroni et al.; licensee BioMed Central Ltd. Source

Athanasiou Y.,Nicosia General Hospital | Voskarides K.,University of Cyprus | Chatzikyriakidou A.,Aristotle University of Thessaloniki | Ignatiou A.,University of Cyprus | And 6 more authors.
Genetic Testing and Molecular Biomarkers

Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population. Methods: Discovery of mutations was performed through polymerase chain reaction (PCR)-single analysis and DNA resequencing. New families were investigated through PCR-RFLPs. Clinical data were collected through the hospital patients' records and analytical follow-up of the families. Results and Discussion: We found a total of five mutations in 28 Greek-Cypriot cystinuric patients belonging in 12 families. The most frequent mutation among the 28 Greek-Cypriot patients is the SLC3A1-p.T216M, which is also the second most frequent mutation in Europe, representing a genetic founder effect. Sixteen of the 28 patients are homozygous for this mutation. Even though a consanguinity loop was obvious in only one family, other patients were from families in small villages where endogamy was practiced for many centuries. Timely clinical and genetic diagnosis, accompanied by early treatment, is significant for the good health of most of our patients. Only ∼14% of them developed chronic renal failure, and only one reached end-stage renal disease (ESRD). Conclusion: Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients; having such a limited number of causative mutations will simplify diagnostics for this population. © Copyright 2015, Mary Ann Liebert, Inc. Source

Hadjiona V.,Archbishop Makarios III Hospital | Middleton N.,Cyprus University of Technology | Kouta C.,Cyprus University of Technology | Hadjigeorgiou E.,Cyprus University of Technology | And 2 more authors.

Background: more than two decades after the launch of the '10 steps' for successful breast feeding, there is still concern that implementation is suboptimal. Commonly, studies assess the level of implementation based on self-assessments from maternity staff and more rarely based on the mothers' own experience. To date, there has been only anecdotal evidence with regards to the implementation of the '10 steps' in Cyprus while there is general lack of research data on breast feeding in this country. Aim: this study assessed breast feeding self-efficacy among mothers during the first 48 hours after birth and explored their views with regards to the implementation of the '10 steps' across public and private maternity units in Nicosia, Cyprus. Method: this is a descriptive study with a consecutive sample of 216 mothers, aged at least 18, who gave birth to a full-term healthy infant between January and April 2014. Two data collection tools were used: Section 4 of the BFHI (Baby Friendly Hospital Initiative) questionnaire referring to mothers' self-assessment of maternity unit practices and the BSES-SF (Breast feeding Self-Efficacy Scale - Short Form) which measures perceived self-efficacy in bryeast feeding. Results: midwifery assistance for breast feeding skills development along with encouragement of breast feeding on demand (steps 5 and 8) were identified by mothers as the steps they were more likely to have experienced. In addition, there appeared to be relatively good adherence to the International Code of Marketing of Breast-milk Substitutes. In contrast, it seems that step 7(rooming-in), step 9 (no pacifiers) and step 10 (breast feeding support after discharge) were not systematically practiced. While a higher percentage of mothers in public maternity units reported being informed about the importance of skin-to-skin contact compared to the private sector (51.5% versus 25.7%), there does not appear to be much difference in terms of its actual practice which is generally low (29.0% versus 25.4%). Exclusive breast feeding (step 6) was low (21.7%) while the mean score of breast feeding self-efficacy at 48 hours was 3.33 (0.87SD) on a 5-point Likert scale. Conclusions: it appears that mothers in Cyprus had limited experience of the '10 steps' during their stay Nicosia maternity units. This, along with the fact that exclusive breast feeding and breast feeding self-efficacy were rather low, suggests the need for interventions that will enhance breastfeeding self-efficacy and empower mothers to initiate breast feeding while at the maternity unit. In particular, the limited information to mothers upon leaving the maternity unit highlights the lack of maternal support services in the community. © 2016 Elsevier Ltd. Source

Voskarides K.,University of Cyprus | Arsali M.,Limassol General Hospital | Athanasiou Y.,Nicosia General Hospital | Elia A.,Archbishop Makarios III Hospital | And 2 more authors.
Pediatric Nephrology

Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. It is now known that TBMN patients develop proteinuria and changes of focal segmental glomerulosclerosis when biopsied. End-stage kidney disease (ESKD) is observed in 20% of carriers, at ages 50-70. A similar progression is observed in CFHR5 nephropathy. Recent evidence suggests that NPHS2-R229Q, a podocin polymorphism, may contribute to proteinuria in TBMN and to micro-albuminuria in the general population. Case-Diagnosis/Treatment NPHS2-R229Q was screened in a Cypriot FH cohort. 102 TBMN patients with three known COL4 mutations and 45 CFHR5 male patients with a single mutation were categorized as "Mild" or "Severe", based on the presence of microhematuria only, or proteinuria and chronic kidney disease. Nine R229Q carriers were found in the "Severe" category and none in the "Mild" (p00.010 for genotypic association; p00.043 for allelic association, adjusted for patients' relatedness), thus supporting the possible contribution of 229Q allele in disease progress. Conclusions Our results offer more evidence that in patients with FH, NPHS2-R229Q predisposes to proteinuria and ESKD. R229Q may be a good prognostic marker for young hematuric patients © IPNA 2011. Source

Papazachariou L.,University of Cyprus | Demosthenous P.,University of Cyprus | Pieri M.,University of Cyprus | Papagregoriou G.,University of Cyprus | And 27 more authors.

Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies. © 2014 Papazachariou et al. Source

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