Search Results - "Savvidou, Parthena"
-
1
X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia
Published in Bone Reports (01-03-2024)“…X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal…”
Get full text
Journal Article -
2
Physical Activity and Quality of Life among Patients with Cystic Fibrosis
Published in Children (Basel) (31-10-2022)“…Physical activity (PA) improves exercise capacity, slows the decline in lung function, and enhances Quality of Life (QoL) in patients with cystic fibrosis…”
Get full text
Journal Article -
3
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy
Published in Journal of pediatric hematology/oncology (01-11-2022)“…Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms’ tumor suppressor gene 1 (WT1 gene). The WT1 protein is…”
Get full text
Journal Article -
4
Bilateral Gonadoblastoma in a 6-Year Old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy
Published in Journal of pediatric hematology/oncology (08-06-2022)“…Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms’ tumor suppressor gene 1 (WT1 gene). The WT1 protein is…”
Get full text
Journal Article -
5
SARS-CoV-2 molecular testing in Greek hospital paediatric departments: a nationwide study
Published in Epidemiology and infection (24-02-2021)“…As most children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) present with mild symptoms or they are asymptomatic, the optimal…”
Get full text
Journal Article -
6
2011. Use of Biofire®Filmarray gastrointestinal panel on clinical decision making and infection control in a General Pediatric Department
Published in Open forum infectious diseases (15-12-2022)“…Abstract Background The new Biofire® Filmarray Gastrointestinal Panel (BFGI-BioMérieux, France) offers advantage against conventional cultures of…”
Get full text
Journal Article -
7
Randomised multicentre effectiveness trial of rapid syndromic testing by panel assay in children presenting to European emergency departments with acute respiratory infections—trial protocol for the ADEQUATE Paediatric trial
Published in BMJ open (25-04-2024)“…IntroductionSyndromic panel assays, that is, using one test to simultaneously target multiple pathogens with overlapping signs and symptoms, have been…”
Get full text
Journal Article -
8
Parastomal evisceration as an extremely rare complication of a common procedure
Published in Annals of the Royal College of Surgeons of England (01-10-2015)“…The creation of an abdominal stoma is a common procedure performed as part of the treatment for many conditions. Common complications include poor stoma…”
Get full text
Journal Article -
9
X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia
Published in Bone reports (01-03-2024)“…X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal…”
Get full text
Report