Genomes and Genes
Affiliation: University of Athens
- aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcomeEkaterini Siomou
Department of Pediatrics, Ioannina University Hospital, Stavros Niarchos Avenue, GR 45 500, Ioannina, Greece
Pediatr Nephrol 31:513-7. 2016..Atypical hemolytic uremic syndrome (aHUS) is frequently associated with gene mutations in complement-regulatory proteins and activators. Different complement C3 gene mutations have been associated with different outcomes in aHUS...
- Arterial hypertension during treatment with triptorelin in a child with Williams-Beuren syndromeEkaterini Siomou
Departments of Pediatrics, University Hospital of Ioannina, Stavros Niarchos Avenue, 45 500, Ioannina, Greece
Pediatr Nephrol 29:1633-6. 2014..Although cardiovascular and renal abnormalities can explain the AHT in some patients with WBS, its etiology is not fully understood and most cases are considered idiopathic...
- Growth and function in childhood of a normal solitary kidney from birth or from early infancyEkaterini Siomou
Department of Pediatrics, University Hospital of Ioannina, Stavros Niarchos Avenue, 45500, Ioannina, Greece
Pediatr Nephrol 29:249-56. 2014..In this study, we assessed the early signs of impaired glomerular filtration in children with a SK from birth or from early infancy...
- ANCA-associated glomerulonephritis/systemic vasculitis in childhood: clinical features-outcomeEkaterini Siomou
Department of Nephrology, Birmingham Children s Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK
Pediatr Nephrol 27:1911-20. 2012..Antineutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis and systemic vasculitis (AAGNV) is uncommon in childhood...
- Duplex collecting system diagnosed during the first 6 years of life after a first urinary tract infection: a study of 63 childrenEkaterini Siomou
Department of Pediatrics, University Hospital of Ioannina, Greece
J Urol 175:678-81; discussion 681-2. 2006..Additionally, we compared the prevalence and severity of the coexisting anomalies with those found in single systems...
- Serum osteoprotegerin, RANKL and fibroblast growth factor-23 in children with chronic kidney diseaseEkaterini Siomou
Department of Child Health, Medical School, University of Ioannina, Ioannina 45110, Greece
Pediatr Nephrol 26:1105-14. 2011..These findings may reflect a compensatory mechanism to the negative balance of bone turnover. High FGF-23 levels in early CKD stages may indicate the need for intervention to manage serum phosphate (Pi) levels...
- Implications of 99mTc-DMSA scintigraphy performed during urinary tract infection in neonatesEkaterini Siomou
Department of Pediatrics, University Hospital of Ioannina, Ioannina, Greece
Pediatrics 124:881-7. 2009..To evaluate prospectively whether normal scintigraphic results during urinary tract infections (UTIs) in neonates were predictive of the absence of dilating vesicoureteral reflux (VUR) (grade > or =III) and permanent renal damage (PRD)...
- Masked severe stenosing ureteritis: a rare complication of Henoch-Schönlein purpuraEkaterini Siomou
Department of Pediatrics, University Hospital of Ioannina, Stavros Niarchos Avenue, Ioannina, Greece
Pediatr Nephrol 23:821-5. 2008....
- Rare combination of unilateral renal agenesis, congenital obstructive posterior urethral membrane, and enlarged prostatic utricle, with absence of hydroureteronephrosisEkaterini Siomou
Department of Pediatrics, University Hospital of Ioannina, Ioannina, Greece
Urology 70:1008.e1-3. 2007..Moreover, the enlarged prostatic utricle could contribute in the urinary tract protection, serving as an uncommon pressure pop-off mechanism...
- Angiotensin II type 2 receptor gene polymorphism in Caucasian children with a wide spectrum of congenital anomalies of the kidney and urinary tractEkaterini Siomou
Department of Pediatrics, University Hospital of Ioannina, 45500 Ioannina, Greece
Pediatr Res 62:83-7. 2007..0%) or female (44.5%) controls. Our data indicate that the AT2R gene A-1332G transition is not associated with the development of human congenital uropathies and further investigations should be carried out to unravel their etiology...
- Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformationsIoanna Bouba
Laboratory of Human Reproductive Genetics, Medical School, University of Ioannina, Ioannina, Greece
Pediatr Nephrol 24:1569-72. 2009..Further studies are necessary, since other genes known to affect nephrogenesis, as well as genetic and environmental factors, may be involved...
- Imaging strategies for vesicoureteral reflux diagnosisConstantinos J Stefanidis
Department of Nephrology, P and A Kyriakou Children s Hospital of Athens, Goudi, 14562, Athens, Greece
Pediatr Nephrol 22:937-47. 2007..Therefore, the priority of imaging strategies should focus on early identification of renal lesions to prevent further deterioration...
- Renal function and kidney length in preterm infants with nephrocalcinosis: a longitudinal studyVasileios Giapros
Neonatal Intensive Care Unit, University Hospital of Ioannina, Ioannina, Greece
Pediatr Nephrol 26:1873-80. 2011..Based on these results, we conclude that NC in the preterm infants enrolled in our study was associated with impaired renal tubular function and a shorter KL in the first year of life...
- Harmonic voiding urosonography with a second-generation contrast agent for the diagnosis of vesicoureteral refluxFrederica Papadopoulou
Department of Radiology, University Hospital of Ioannina, P O Box 1186, University Avenue, Ioannina, 45110, Greece
Pediatr Radiol 39:239-44. 2009..Voiding urosonography with harmonic imaging (VUS HI) has been introduced as a sensitive and radiation-free imaging method for the diagnosis and follow-up of vesicoureteral reflux (VUR) in children...
- ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasiaArtemis G Mitsioni
Laboratory of Medical Genetics and Human Reproduction, School of Health Sciences, Faculty of Medicine University of Ioannina, Ioannina, Greece
Pediatr Res 80:72-6. 2016..Sequence variations of the ROBO2 gene were investigated in children with nonsyndromic VUR or VUR-RHD...
- FGF-23 in children with CKD: a new player in the development of CKD-mineral and bone disorderEkaterini Siomou
Department of Child Health, Medical School, University of Ioannina, Ioannina, Greece
Nephrol Dial Transplant 27:4259-62. 2012..Therefore, the bone-kidney-parathyroid endocrine axis mediated by FGF-23 should be a novel therapeutic target in clinical practice, even in early stages of CKD in children...
- Cyclic contrast-enhanced harmonic voiding urosonography for the evaluation of reflux. Can we keep the cost of the examination low?Frederica Papadopoulou
Department of Clinical Radiology and Imaging, Ioannina University Hospital, Ioannina, 45110, Greece
Eur Radiol 16:2521-6. 2006..A second cycle of contrast-enhanced harmonic VUS with no added CM discloses significantly more cases of VUR at no additional cost for the examination...
- A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndromeMeropi Tzoufi
Child Health Department, Medical School, University of Ioannina, P O Box 1187, 45110 Ioannina, Greece
Eur J Pediatr 172:557-61. 2013..The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years...
- Contrast-enhanced voiding urosonography with intravesical administration of a second-generation ultrasound contrast agent for diagnosis of vesicoureteral reflux: prospective evaluation of contrast safety in 1,010 childrenFrederica Papadopoulou
Department of Radiology, Medical School of University of Ioannina, Ioannina, Greece
Pediatr Radiol 44:719-28. 2014..To evaluate the safety of intravesical administration of a second-generation ultrasound (US) contrast agent for the diagnosis of vesicoureteral reflux in children...
- Acute nephritis and respiratory tract infection caused by Mycoplasma pneumoniae: case report and review of the literatureEkaterini Siomou
Division of Pediatric Nephrology, University of Ioannina Medical School, Greece
Pediatr Infect Dis J 22:1103-6. 2003..The child had an excellent outcome, with rapid normalization of C3 and complete resolution of the acute nephritis...