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Dive into the research topics where Euthymia Vargiami is active.

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Featured researches published by Euthymia Vargiami.


American Journal of Medical Genetics | 2013

Autism spectrum disorders: The quest for genetic syndromes

Dimitrios I. Zafeiriou; Athina Ververi; Vaios Dafoulis; Efrosini Kalyva; Euthymia Vargiami

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader–Willi, Williams, Duchenne, etc. Clinicians are increasingly required to recognize genetic disorders in individuals with ASD, in terms of providing proper care and prognosis to the patient, as well as genetic counseling to the family. Vice versa, it is equally essential to identify ASD in patients with genetic syndromes, in order to ensure correct management and appropriate educational placement. During investigation of genetic syndromes, a number of issues emerge: impact of intellectual disability in ASD diagnoses, identification of autistic subphenotypes and differences from idiopathic autism, validity of assessment tools designed for idiopathic autism, possible mechanisms for the association with ASD, etc. Findings from the study of genetic syndromes are incorporated into the ongoing research on autism etiology and pathogenesis; different syndromes converge upon common biological backgrounds (such as disrupted molecular pathways and brain circuitries), which probably account for their comorbidity with autism. This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD.


Current Neuropharmacology | 2009

The serotonergic system: its role in pathogenesis and early developmental treatment of autism.

Dimitrios I. Zafeiriou; Athina Ververi; Euthymia Vargiami

Autism is a severe childhood disorder already presenting in the first 3 years of life and, therefore, strongly correlated with neurodevelopmental alterations in prenatal, as well as postnatal period. Neurotransmitters hold a pivotal role in development by providing the stimulation needed for synapses and neuronal networks to be formed during the critical period of neuroplasticity. Aberrations of the serotonergic system modify key processes in the developing brain and are strongly implicated in the pathophysiology of developmental disorders. Evidence for the role of serotonin in autism emerges from neuropathological, imaging and genetic studies. Due to its developmental arrest, autism requires early intervention that would, among others, target the disrupted serotonergic system and utilize brain plasticity to elicit clinically important brain changes in children.


Molecular Genetics and Metabolism | 2009

Tyrosine hydroxylase deficiency with severe clinical course.

Dimitrios I. Zafeiriou; M.A.A.P. Willemsen; Marcel M. Verbeek; Euthymia Vargiami; Athina Ververi; R.A. Wevers

Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive disorder mapped to chromosome 11p15.5. Its clinical expression varies with presentations as dopa-responsive dystonia (recessive Segawas disease), dopa-responsive infantile parkinsonism, dopa-responsive spastic paraplegia, progressive infantile encephalopathy or dopa-non-responsive dystonia. We describe a 7-year-old boy with progressive infantile encephalopathy and non-responsiveness to dopamine. The patient demonstrated generalized hypotonia, pyramidal tract dysfunction and temperature instability after the second month of life. Dystonia, tremor and oculogyric crises complicated the clinical picture during the following months. Neurotransmitter analysis in CSF disclosed almost undetectable levels of HVA and MHPG, whereas serum prolactin was profoundly increased. Subsequent molecular analysis revealed homozygosity for a missense mutation (c.707T>C) in the TH gene. l-Dopa therapy in both high and low doses resulted in massive hyperkinesias, while substitution with selegiline exerted only a mild beneficial effect. Today, at the age of 7 years, the patient demonstrates severe developmental retardation with marked trunkal hypotonia, hypokinesia and occasionally dystonic and/or hyperkinetic crises. He is the third Greek patient with TH deficiency to be reported. Since all three patients carry the same pathogenetic mutation, a founder effect is suspected.


Acta Paediatrica | 2012

Identification of feeding risk factors for impaired nutrition status in paediatric patients with cerebral palsy

Thomais Karagiozoglou-Lampoudi; Efstratia Daskalou; Euthymia Vargiami; Dimitrios I. Zafeiriou

Aim:  To assess the nutrition status of children with CP, applying WHO growth standards, to indentify feeding risk factors and to evaluate their impact on the growth of children with CP.


Pediatric Neurology | 2003

Niemann-pick type C disease associated with peripheral neuropathy

Dimitrios I. Zafeiriou; Panagiota Triantafyllou; Nikolaos Gombakis; Euthymia Vargiami; Chaido Tsantali; Eleni Michelakaki

Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarthria, and dementia. We describe a 3 1/2-year-old patient with Niemann-Pick type C disease, who presented with regression in both cognitive and motor domains. Almost 10 months before admission to the hospital, the child developed progressive speech and behavioral changes, as well as gait disturbances with frequent falls. The examination demonstrated hepatosplenomegaly, ataxia, and vertical gaze palsy. Nerve conduction velocities demonstrated mild demyelinating peripheral neuropathy. Bone marrow examination revealed foam cells, and cholesterol esterification studies found massive accumulation of unesterified cholesterol and very low intracellular esterification of exogenous lipoprotein-derived cholesterol. These results indicate Niemann-Pick type C disease. Peripheral neuropathy is a rare complication in patients with Niemann-Pick type C disease, which certainly contributes to their neurologic deterioration.


Molecular Genetics and Metabolism | 2008

Two Greek siblings with sepiapterin reductase deficiency

Marcel M. Verbeek; M.A.A.P. Willemsen; Ron A. Wevers; Aart J. Lagerwerf; Nico G. G. M. Abeling; Nenad Blau; Beat Thöny; Euthymia Vargiami; Dimitrios I. Zafeiriou

BACKGROUND Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement in cultured fibroblasts and by mutation analysis. RESULTS Both patients suffered from a progressive and complex L-dopa responsive movement disorder. Very low concentrations of the neurotransmitter metabolites homovanillic acid (HVA), 5-hydroxyindolacetic acid (5-HIAA) and 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG) were observed in CSF. CSF neopterin and biopterin concentrations were abnormal in one case only, whereas in both cases sepiapterin concentrations were abnormally high and 5-hydroxytryptophan was undetectable. Urine concentrations of HVA, 5-HIAA and vanillyl mandelic acid (VMA) were decreased in both cases. Both patients had no detectable SR enzyme activity in primary dermal fibroblasts, and upon analysis of genomic DNA revealed the same homozygous point mutation introducing a premature stop codon into the reading frame of the SPR gene (mutant allele K251X). CONCLUSIONS Our cases illustrate that, apart from HVA and 5-HIAA analysis, the specific quantification of sepiapterin in CSF, rather than neopterin and biopterin alone, is crucial to the final diagnosis of SR deficiency. In addition, urinary concentrations of neurotransmitter metabolites may be abnormal in SR deficiency and may provide an initial indication of SR deficiency before CSF analysis is performed. The known, impressive beneficial response of SR deficient patients to treatment with L-dopa, is illustrated again in our cases.


Brain & Development | 2008

L-2-hydroxyglutaric aciduria presenting with severe autistic features

Dimitrios I. Zafeiriou; Athina Ververi; Gajja S. Salomons; Euthymia Vargiami; D. Haas; V. Papadopoulou; E. Kontopoulos; Cornelis Jakobs

L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. Recently, the disease causing gene has been discovered (L2HGDH) encoding L-2-hydroxyglutarate dehydrogenase. We present a 3-year-old boy with L-2-HGA, who demonstrated macrocephaly, noted already in utero with ultrasound. Cranial MRI demonstrated diffuse subcortical encephalopathy with increased signal of the subcortical white matter. Subsequent metabolic screening revealed increased levels of L-2-HGA, and genomic DNA analysis demonstrated two missense mutations in L-2-HGDG. Patients further motor development was mildly impaired, whilst his speech development was profoundly impaired (first words at the age of 2 years). Since the age of 2 years he started demonstrating autistic repetitive behaviors and movements, increasing aloofness to his environment and limitations in the variety of spontaneous activity (CARS score: 44/60-severe autism). Autism has not so far been described in L-2-HGA and may be considered as an additional feature of the phenotypic spectrum.


Pediatric Neurology | 2011

Somatosensory Evoked Potentials in Children With Bilateral Spastic Cerebral Palsy

Eleni P. Teflioudi; Dimitrios I. Zafeiriou; Euthymia Vargiami; E. Kontopoulos; Ioannis Tsikoulas

Alterations were monitored of somatosensory evoked potentials in children with bilateral spastic cerebral palsy and these findings correlated with relevant clinical and laboratory parameters. Fifty-one children with bilateral spastic cerebral palsy (31 boys, 20 girls; age range 24-168 months) participated in the study. Abnormal somatosensory evoked potentials latencies were recorded in 23 of 34 (67.6%) cortical recordings of the median nerve and in 38 of 51 (74.5%) cortical recordings of the tibial nerve. Abnormal tibial nerve somatosensory evoked potentials were strongly correlated with abnormal electroencephalogram (P=0.014), while impaired median nerve recordings were correlated with abnormal visual evoked potentials (P = 0.02) and a history of perinatal or neonatal infection (P=0.016). Furthermore, perinatal/neonatal infection adversely effected the recordings in both tibial and medial nerves in quadriplegic patients (P=0.023). Sensory impairment is strongly related with abnormal visual evoked potentials, abnormal electroencephalogram, and a history of perinatal or neonatal infection.


Neurology | 2001

Russell’s diencephalic syndrome

Dimitrios I. Zafeiriou; Dimitrios Koliouskas; Euthymia Vargiami; Nikolaos Gombakis

A 21-month-old boy was initially admitted to our hospital because of failure to thrive, which began at the age of 6 months. Physical examination revealed emaciation (weight < third percentile), normal body length, normal head circumference with a characteristic “pseudohydrocephalic” face (figure, A), as well as a mild pyramidal tract dysfunction, …


Italian Journal of Pediatrics | 2014

Moyamoya syndrome and neurofibromatosis type 1

Euthymia Vargiami; Evdoxia Sapountzi; Dimitris Samakovitis; Spyros P. Batzios; M. Kyriazi; Athanasia Anastasiou; Dimitrios I. Zafeiriou

Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy is a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels of all sizes. Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1, particularly in the pediatric age range. Herein, we report of a 5-year-old female with NF1 and moyamoya syndrome and we briefly review the existing literature.

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Dimitrios I. Zafeiriou

Aristotle University of Thessaloniki

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Athina Ververi

Aristotle University of Thessaloniki

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M. Kyriazi

Aristotle University of Thessaloniki

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E. Kontopoulos

Aristotle University of Thessaloniki

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Nikos Gombakis

Aristotle University of Thessaloniki

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Spyros P. Batzios

Aristotle University of Thessaloniki

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Georgia Gioula

Aristotle University of Thessaloniki

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Helen Michelakakis

National and Kapodistrian University of Athens

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Marina Economou

Aristotle University of Thessaloniki

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