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Zivotic M.,University of Belgrade | Bogdanovic R.,University of Belgrade | Bogdanovic R.,Institute of Mother and Child Health Care | Peco-Antic A.,University of Belgrade | And 8 more authors.
Pediatric Nephrology | Year: 2015

Conclusions: The most important finding of our study is that nestin can be used as a potential new early morphological predictor of kidney dysfunction in childhood onset of FSGS, since nestin has been obviously decreased in both sclerotic and normal glomeruli seen by light microscopy.Methods: Among 649 renal biopsy samples, obtained from two children’s hospitals, FSGS was diagnosed in 60 children. Thirty-eight patients, who met the criteria for this study, were followed up for 9.0 ± 5.2 years. Using Kaplan–Meier and Cox’s regression analysis, potential clinical and morphological predictors were applied in two models of prediction: after disease onset and after the biopsy.Background: A high prevalence of chronic kidney disease among children with focal segmental glomerulosclerosis (FSGS) leads to a permanent quest for good predictors of kidney dysfunction. Thus, we carried out a retrospective cohort study in order to examine known clinical and morphological predictors of adverse outcome, as well as to investigate glomerular nestin expression as a potential new early predictor of kidney dysfunction in children with FSGS. Relationships between nestin expression and clinical and morphological findings were also investigated.Results: The present study revealed the following significant predictors of kidney dysfunction: patients’ ages at disease onset, as well as age at biopsy, resistance to corticosteroid treatment, serum creatinine level, urine protein/creatinine ratio, vascular involvement, tubular atrophy, interstitial fibrosis, and decreased glomerular nestin expression. © 2014, IPNA.

Popovska-Jankovic K.,Macedonian Academy of Science and Arts | Tasic V.,University of Macedonia | Bogdanovic R.,Institute of Mother and Child Health Care | Miljkovic P.,University of Niš | And 11 more authors.
Urological Research | Year: 2013

Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c.1048-1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families. © 2012 Springer-Verlag Berlin Heidelberg.

Rojnoveanu Gh.,Moldova State University | Ghidirim Gh.,Moldova State University | Mishin I.,Moldova State University | Vozian M.,Moldova State University | Mishina A.,Institute of Mother and Child Health Care
Chirurgia (Romania) | Year: 2014

Mucocele of the appendix is an infrequent entity, characterized by distension of the lumen due to accumulation of mucoid substance and is rarely diagnosed preoperatively. If untreated, mucocele may rupture producing a potentially fatal entity known as pseudomyxoma peritonei. The type of surgical treatment is related to the dimensions and the histology of the mucocele. Appendectomy is used for simple mucocele or for cystadenoma. Right hemi-colectomy is recommended for cystadenocarcinoma. In this paper, we report a case of an asymptomatic 37-year-old woman in whom mucocele was found on a routine ultrasound examination and preoperative computed tomography scan. Surgery revealed a big appendix measuring 84 mm in length and 40 mm in diameter. The final pathologic diagnosis was simple mucocele. Copyright © 2014 Celsius.

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