Athanasios Evangeliou
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View article: A comprehensive framework for the interpretation of TTN missense variants
A comprehensive framework for the interpretation of TTN missense variants Open
Background: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the …
View article: A comprehensive framework for the interpretation of <i>TTN</i> missense variants
A comprehensive framework for the interpretation of <i>TTN</i> missense variants Open
Background Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the c…
View article: Corrigendum: Successful application of dietary ketogenic metabolic therapy in patients with glioblastoma: a clinical study
Corrigendum: Successful application of dietary ketogenic metabolic therapy in patients with glioblastoma: a clinical study Open
[This corrects the article DOI: 10.3389/fnut.2024.1489812.].
View article: Severe Hypoglycemia and Pituitary Stalk Interruption Syndrome in a 5-Year-Old Boy with Coexistent Hyperprolinaemia: A Case Report and Literature Review
Severe Hypoglycemia and Pituitary Stalk Interruption Syndrome in a 5-Year-Old Boy with Coexistent Hyperprolinaemia: A Case Report and Literature Review Open
Background/Objectives: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neuro…
View article: Successful application of dietary ketogenic metabolic therapy in patients with glioblastoma: a clinical study
Successful application of dietary ketogenic metabolic therapy in patients with glioblastoma: a clinical study Open
Introduction Glioblastoma multiforme (GBM) ranks as one of the most aggressive primary malignant tumor affecting the brain. The persistent challenge of treatment failure and high relapse rates in GBM highlights the need for new treatment a…
View article: Severe hypoglycemia with Hyperprolinemia and Pituitary Stalk Interruption Syndrome in a 5-year-old boy: A Case Report and Literature Review
Severe hypoglycemia with Hyperprolinemia and Pituitary Stalk Interruption Syndrome in a 5-year-old boy: A Case Report and Literature Review Open
Background: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, re…
View article: Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia
Metabolic Fingerprint in Childhood Acute Lymphoblastic Leukemia Open
Introduction: Acute lymphoblastic leukemia (ALL) is the most prevalent childhood malignancy. Despite high cure rates, several questions remain regarding predisposition, response to treatment, and prognosis of the disease. The role of inter…
View article: METABOLIC FINGERPRINT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA
METABOLIC FINGERPRINT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA Open
Introduction: Acute lymphoblastic leukemia (ALL) represents the most prevalent childhood malignancy. Despite high cure rates, several questions regarding predisposition, response to treatment, and prognosis of the disease remain. The role …
View article: Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study
Branched-chain amino acids as adjunctive-alternative treatment in patients with autism: a pilot study Open
The branched-chain amino acid (BCAA) is a group of essential amino acids that are involved in maintaining the energy balance of a human being as well as the homoeostasis of GABAergic, glutamatergic, serotonergic and dopaminergic systems. D…
View article: Prevalence of atrial myopathy among hypertrophic cardiomyopathy patients without atrial fibrillation
Prevalence of atrial myopathy among hypertrophic cardiomyopathy patients without atrial fibrillation Open
Background Atrial myopathy (AM) is an entity reflecting left atrial (LA) structural and electrical remodeling, connected to atrial fibrillation (AF) development and heart failure progression in various substrates. In hypertrophic cardiomyo…
View article: Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene
Infantile Nephropathic Cystinosis - Homozygous c.516dupC Mutation of the CTNS Gene Open
Objective: Cystinosis is a rare, autosomal recessive, lysosomal storage disorder characterized by cystine accumulation throughout the body, due to mutations in the gene encoding cystinosin, named CTNS. Infantile nephropathic cystinosis (IN…
View article: Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders
Efficacy of a Robot-Assisted Intervention in Improving Learning Performance of Elementary School Children with Specific Learning Disorders Open
(1) Background: There has been significant recent interest in the potential role of social robots (SRs) in special education. Specific Learning Disorders (SpLDs) have a high prevalence in the student population, and early intervention with…
View article: A Pediatric Patient With Autism Spectrum Disorder and Comorbid Compulsive Behaviors Treated With Robot-Assisted Relaxation: A Case Report
A Pediatric Patient With Autism Spectrum Disorder and Comorbid Compulsive Behaviors Treated With Robot-Assisted Relaxation: A Case Report Open
The nature of autism spectrum disorders (ASDs) presents significant challenges, especially with regard to comorbidities and drug treatments. Parents and caregivers are often hesitant towards psychotropic medications, mainly due to the fear…
View article: Behavioral Data Analysis of Robot-Assisted Autism Spectrum Disorder (ASD) Interventions Based on Lattice Computing Techniques
Behavioral Data Analysis of Robot-Assisted Autism Spectrum Disorder (ASD) Interventions Based on Lattice Computing Techniques Open
Recent years have witnessed the proliferation of social robots in various domains including special education. However, specialized tools to assess their effect on human behavior, as well as to holistically design social robot applications…
View article: Identification of Complement-Related Missense Variants in Pediatric Patients with Acute and Post COVID-19 Syndromes
Identification of Complement-Related Missense Variants in Pediatric Patients with Acute and Post COVID-19 Syndromes Open
Background: Complement dysregulation has been documented in the molecular pathophysiology of COVID-19 and recently implicated in the relevant pediatric patient inflammatory responses. Aims: Based on our previous data in adults, we hypothes…
View article: Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of <scp><i>FOLR1</i></scp> gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of <span><i>FOLR1</i></span> gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet Open
Mutations in the FOLR1 gene, encoding for the folate alpha receptor (FRa), represent a rare recessive genetic cause of cerebral folate deficiency (CFD), a potentially reversible neurometabolic condition. Patients typically present with dev…
View article: Mealtime Environment and Control of Food Intake in Healthy Children and in Children with Gastrointestinal Diseases
Mealtime Environment and Control of Food Intake in Healthy Children and in Children with Gastrointestinal Diseases Open
Parental feeding practices and mealtime routine significantly influence a child’s eating behavior. The aim of this study was to investigate the mealtime environment in healthy children and children with gastrointestinal diseases. We conduc…
View article: Acute aortic dissection type A: case series and insights on incidence, management and outcomes.
Acute aortic dissection type A: case series and insights on incidence, management and outcomes. Open
The incidence of type A AAD in our case series was consistent with the one demonstrated in other international cohorts; however, the mortality in our patient group was higher. Our results encourage surgical treatment due to a lower in-hosp…
View article: Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes
Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes Open
We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2-18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel…
View article: Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency Open
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is an autosomal recessive condition due to a deficiency of α‐aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE‐ALDH7A1 is a developmental and epileptic enceph…
View article: Distance Special Education Delivery by Social Robots
Distance Special Education Delivery by Social Robots Open
The outbreak of the Severe Acute Respiratory Syndrome coronavirus (SARS-CoV2) has resulted in a significant disruption of almost all aspects of everyday life. Several governments around the world have adopted emergency actions to reduce sp…
View article: Association between Serum Lipid Levels in Greek Children with Dyslipidemia and Mediterranean Diet Adherence, Dietary Habits, Lifestyle and Family Socioeconomic Factors
Association between Serum Lipid Levels in Greek Children with Dyslipidemia and Mediterranean Diet Adherence, Dietary Habits, Lifestyle and Family Socioeconomic Factors Open
Background: Childhood dyslipidemia is an important risk factor for developing cardiovascular disease in adulthood. Our study aimed to investigate a possible correlation between nutritional, lifestyle, behavioral and socioeconomic factors a…
View article: Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years Open
Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients’ quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one…