A5056785763- Pharmacological Effects and Toxicity Studies
- Epilepsy research and treatment
- Infectious Encephalopathies and Encephalitis
- Hemoglobinopathies and Related Disorders
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Blood Coagulation and Thrombosis Mechanisms
- Bacterial Infections and Vaccines
- Viral Infections and Immunology Research
- Autoimmune Neurological Disorders and Treatments
- Cerebral Palsy and Movement Disorders
- Infant Development and Preterm Care
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Genomics and Rare Diseases
- Influenza Virus Research Studies
- Vitamin K Research Studies
- Genomic variations and chromosomal abnormalities
- Neonatal Respiratory Health Research
- Cystic Fibrosis Research Advances
- Protease and Inhibitor Mechanisms
- Gallbladder and Bile Duct Disorders
- Gout, Hyperuricemia, Uric Acid
- Pneumocystis jirovecii pneumonia detection and treatment
Panagiotis & Aglaia Kyriakou Children's Hospital
2007-2023
National and Kapodistrian University of Athens
2006-2020
Boston Children's Hospital
2003-2007
Hippocration General Hospital
2002
<h3>Background</h3> Joubert syndrome (JS) is a recessive ciliopathy characterised by distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and mutations 12 of these also Meckel-Gruber (MKS). The goals this work are to describe the clinical features <i>MKS1</i>-related JS determine whether disease causing <i>MKS1</i> affect cellular phenotypes such as cilium number, length protein content potential mechanisms underlying JS. <h3>Methods</h3> We measured...
Background: While most studies on the association of preterm birth and cerebral palsy (CP) have focused very infants, lately, attention has been paid to moderately [32 &lt;34 weeks gestational age (GA)] late infants (34 &lt;37 GA). Methods: In order report outcomes a cohort derived from population-based CP Registry, comparative analysis data 95 96 out 1,016 with CP, was performed. Results: Moderately neonates were more likely history N-ICU admission ( p = 0.001) require respiratory...
Studies on the effects of sodium valproate (VPA) thyroid hormone balance in patients with epilepsy are conflicting. The aim this study was to prospectively evaluate changes profile children treated VPA monotherapy.Serum thyroxine, free triiodothyronine, and thyrotropin (TSH) levels were evaluated 30 epilepsy, before at 6, 12, 24 months monotherapy.All had normal function initiation treatment. Serum concentrations remained within therapeutic range (50-100 mg/L) during period study. Thyroxine...
ABSTRACTObjectives Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types channels, transcription factors, other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum clinical presentations overlapping phenotypes hinders differential diagnosis highlights the need for molecular investigations toward delineation underlying mechanisms final diagnosis. Characterization defects may also...
Acute necrotizing encephalopathy is a severe parainfectious disorder with clear racial predilection for Oriental children living in the Far East. The prognosis was originally reported as grave; however, mild form of disease has recently been described. A case parainfluenza virus-associated acute Caucasian child clinical course and excellent presented. In this patient, initial picture not very impressive, diagnosis delayed until third week illness, when neuroimaging performed. Two months...
The purpose of this study was to investigate, by a prospective, self-controlled method, whether early treatment with carbamazepine monotherapy can alter bone metabolism in ambulatory epileptic children adequate sun exposure, based on the determination total serum alkaline phosphatase and its isoenzyme activities. Serum bone, liver, intestinal activities were evaluated 22 (13 males 9 females, aged from 5 12 years) before at 3, 6, months monotherapy. concentrations other biochemical markers...
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a rare, newly defined autoimmune clinical entity that presents with atypical manifestations. Most patients anti-N-methyl-D-aspartate develop progressive illness from psychosis into state of unresponsiveness, catatonic features often associated abnormal movements and autonomic instability. This the first report in Greek pediatric hospital. An 11-year-old girl presented manifestations acute psychosis. The differential diagnosis...
Pediatric-onset multiple sclerosis (POMS) is considered a complex disease entity with many genetic and environmental factors implicated in its pathogenesis. Linkage studies Caucasian adult populations consistently demonstrate the major histocompatibility HLA (human leukocyte antigen) polymorphisms as locus most strongly linked to MS.To investigate frequencies possible clinical imaging correlations of HLA-DRB1 alleles Hellenic POMS sample.Fifty patients fulfilling IPMSSG (International...
The purpose of this study was to investigate, by a prospective, self-controlled method, whether early treatment with carbamazepine monotherapy can alter bone metabolism in ambulatory epileptic children adequate sun exposure, based on the determination total serum alkaline phosphatase and its isoenzyme activities. Serum bone, liver, intestinal activities were evaluated 22 (13 males 9 females, aged from 5 12 years) before at 3, 6, months monotherapy. concentrations other biochemical markers...
A 13-year-old Greek girl with pyruvate kinase deficiency and moya angiographic pattern is reported. She also had raised serum lipoprotein (a) concentration was homozygous for the C677T mutation of methylenetetrahydrofolate reductase gene. presented neonatal onset anemia, hemolytic aplastic crises, especially during infections, stroke, progressive motor mental deterioration. digital cranial angiography at 13 years revealed typical findings angiopathy. This likely first patient syndrome...
Hypoalbuminemia has been reported in patients with severe disability and epilepsy treated short-term sodium valproate (VPA) therapy; however, serum albumin concentrations have not previously determined otherwise healthy receiving long-term VPA monotherapy.Serum were 26 ambulatory children before at 6, 12, 24 months of monotherapy. Serum total protein other biochemical markers liver renal function such as alanine aminotransferase, aspartate gamma-glutamyltransferase, creatinine concentration...
The high prevalence of antiphospholipid antibodies (aPL) and antinuclear (ANA) in patients with epilepsy may be associated either the disease itself or antiepileptic treatment. purpose this prospective study was to determine aPL ANA children idiopathic before during treatment drugs.aPL, including both anticardiolipin anti-β2-glycoprotein I antibodies, statuses were determined 40 healthy children, 30 treated sodium valproate (VPA) monotherapy, 20 carbamazepine (CBZ) monotherapy at 6, 12, 24...