N. Gombakis

ORCID: 0000-0001-6684-1732
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About
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Research Areas
  • Blood groups and transfusion
  • Lysosomal Storage Disorders Research
  • Hemoglobinopathies and Related Disorders
  • Metabolism and Genetic Disorders
  • Platelet Disorders and Treatments
  • Hemophilia Treatment and Research
  • Renal and related cancers
  • Blood Coagulation and Thrombosis Mechanisms
  • Blood disorders and treatments
  • Iron Metabolism and Disorders
  • Herpesvirus Infections and Treatments
  • Hereditary Neurological Disorders
  • Parvovirus B19 Infection Studies
  • Acute Lymphoblastic Leukemia research
  • Biochemical and Molecular Research
  • Peripheral Neuropathies and Disorders
  • Muscle and Compartmental Disorders
  • Cytomegalovirus and herpesvirus research
  • Nerve injury and regeneration
  • Inflammatory Myopathies and Dermatomyositis
  • Genetic Syndromes and Imprinting
  • Erythrocyte Function and Pathophysiology
  • DNA Repair Mechanisms
  • Drug Transport and Resistance Mechanisms
  • Cerebral Venous Sinus Thrombosis

Aristotle University of Thessaloniki
2005-2020

AHEPA University Hospital
2016-2020

Palmetto Hematology Oncology
2020

Hippocration General Hospital
1992-2013

Health First
1999

Erasmus University Rotterdam
1998

Telio (Norway)
1996

Hospital IPO
1996

Ethylmalonic encephalopathy (EE) is a rare, recently defined inborn error of metabolism which affects the brain, gastrointestinal system and peripheral blood vessels characterized by unique constellation clinical biochemical features. A 7-month-old male, who presented with psychomotor retardation, chronic diarrhea relapsing petechiae described objective highlighting neuroradiological features this disorder as well effect high-dose riboflavin therapy. Urinary organic acid analysis revealed...

10.1055/s-2007-984447 article EN Neuropediatrics 2007-04-01

We report clinical and laboratory data from 32 children with benign acute childhood myositis (BACM), who presented calf tenderness gait abnormality. Laboratory evidence of a viral infection was evident in 23 patients, while serum creatine phosphokinase uniformly increased (558 to 6800 U/L). Twenty‐five patients (78.1%) were given diagnosis other than BACM by their general practitioner or paediatrician. All made rapid recovery within one week. conclude that should be encountered among the...

10.1111/j.1651-2227.2000.tb02783.x article EN Acta Paediatrica 2000-12-01

The severe endothelial dysfunction in children with acute lymphoblastic leukemia (ALL) can result from the disease itself, treatment, or other conditions (e.g. sepsis). aim of this study was to determine levels markers activation ALL and assess their potential prognostic value. Fifty-two ALL, 19 1–10 years after completion therapy, 28 healthy were studied. In there a significant increase thrombomodulin (TM) von Willebrand factor (vWF) during phase treatment. Children an unfavorable outcome...

10.1159/000322120 article EN Acta Haematologica 2010-12-11

Twenty-one children and young adults with sickle/beta-thalassemia without overt stroke were examined magnetic resonance imaging angiography (MRA), transcranial Doppler (TCD), visual (VEP) median nerve somatosensory (SEP)-evoked potential recordings, neuropsychological testing (Wechsler Intelligence Scale [WISC-III]). Eight (38%) had silent infarction in the parietooccipital cortex, deep white matter, or basal ganglia, including two of three previous seizures. Of 17 undergoing TCD, none...

10.1002/ana.20104 article EN Annals of Neurology 2004-05-03

Beta thalassemia is known to be characterized by a hypercoagulable state, with prothrombotic factors present and thrombotic event development in number of patients. The aim the study was evaluate subclinical involvement central nervous system (CNS) young patients intermedia, use nonimaging, noninvasive laboratory methods for detecting relevant abnormalities, frequency possible correlation coagulation abnormalities CNS lesions. In this cross-sectional study, 24 intermedia were evaluated (mean...

10.1097/mbc.0b013e32834f0ac0 article EN Blood Coagulation & Fibrinolysis 2012-02-08

Background We conducted a study to evaluate the efficacy of intravenous (IV) anti-D against IV immunoglobulin (IVIG) in newly diagnosed immune thrombocytopenia (ITP) children and identify clinical characteristics most likely benefit from one or other treatment. Procedure Children (6 mo 14 y) with ITP platelet count <20,000/μL were treated either single bolus dose 50 μg/kg 0.8 1 g/kg IVIG randomized manner. Results Twenty-five patients, mean age 6.8 years, (n=10) (n=15). Both drugs equally...

10.1097/mph.0b013e31820e2aa5 article EN Journal of Pediatric Hematology/Oncology 2011-04-22

Primary immune thrombocytopenia (ITP) is the commonest acquired cause of bleeding in childhood. The aim present study was to evaluate role FcγRIIa and FcγRIIIa polymorphisms pathogenesis therapeutic result childhood ITP. genotypic frequencies for two Fcγ receptor single-nucleotide polymorphisms, FcγRIIa-131 arginine (R) versus histidine (H) FcγRIIIa-158 valine (V) phenylalanine (F) were examined 53 children diagnosed with genotype compared those 45 healthy controls. association between above...

10.1097/mbc.0b013e328359bc3b article EN Blood Coagulation & Fibrinolysis 2012-12-18

Background Varicella-zoster virus (VZV) infection is usually benign but immunocompromised patients are at great risk for visceral dissemination and fatal outcome. During a nationwide varicella outbreak, several of our contracted the disease. We undertook studies epidemiology efficacy antiviral treatment immunoprophylaxis. Procedure. 9-month period, 52 were exposed to cases active varicella. Twenty-seven these children reexposed >1 month after their initial exposure. The exposure concerned 7...

10.1002/(sici)1096-911x(199809)31:3<166::aid-mpo7>3.0.co;2-9 article EN Medical and Pediatric Oncology 1998-09-01

Nephroblastomatosis (NB) has been considered as a precursor of Wilms tumor (WT). The natural history NB seems to present significant variation some lesions may regress spontaneously, while others grow and expand or relapse develop into WT later in childhood. Although, most investigators suggest adjutant chemotherapy, the effect duration treatment are not well established. Children with diffuse perilobar NB, Beckwith-Wiedemann syndrome, hemihypertrophy seem particularly benefit from...

10.1155/2014/756819 article EN cc-by Case Reports in Pediatrics 2014-01-01

We report clinical and laboratory data from 32 children with benign acute childhood myositis (BACM), who presented calf tenderness gait abnormality. Laboratory evidence of a viral infection was evident in 23 patients, while serum creatine phosphokinase uniformly increased (558 to 6800 U/L). Twenty-five patients (78.1%) were given diagnosis other than BACM by their general practitioner or paediatrician. All made rapid recovery within one week. conclude that should be encountered among the...

10.1080/080352500456714 article EN Acta Paediatrica 2000-12-01
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