Evangelos Pavlou - Academia.edu (original) (raw)

Papers by Evangelos Pavlou

Introduction: Migraine is considered to be a multifactorial, complex disease. Various genetic and... more Introduction: Migraine is considered to be a multifactorial, complex disease. Various genetic and environmental factors contribute to the manifestation of this disease. The aim of this study was to determine whether polymorphisms in the tumour necrosis factor (TNF) region are associated with the risk of migraine. We examined the association between 6 single nucleotide

Orphanet journal of rare diseases, Jan 10, 2018

Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small s... more Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based patterns, and explore genotype-TAND correlations. The study enrolled 2216 eligible participants with TSC from 170 sites across 31 countries at the data cut-off for the third interim analysis (data cut-off date: September 30, 2015). The most common behavioural problems (reported in > 10% of participants) were overactivity, sleep difficulties, impulsivity, anxiety, mood swings, severe aggression, depressed mood, self-injury, and obsessions. Psychiatric disorders included autism spectrum disorder (ASD, 21.1%), attention deficit hyperactivity disorder (ADHD, 19.1%), anxiety disorder (9.7%), and depressive disorder (6.1%). Intelligence quotient (IQ) scores were availa...

Journal of Neuromuscular Diseases

Background: Promising genetic treatments targeting the molecular defect of severe early-onset gen... more 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 of these conditions and approved therapeutic approaches have recently become available to patients. Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations. Methods: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset. Results: Causative variations...

Journal of Pediatric Genetics

Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated ... more Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous known pathogenic mutation. Symptoms began at 15 months and by 14 years, he presented significant motor impairment. Both parents exhibited one of the mutations in the heterozygous state, while his 8-year-old brother carried the same compound heterozygosity, showing only a mild phenotype. In our case, we discussed the contribution of compound heterozygosity to intrafamilial variability in Charcot-Marie-Tooth and the role of modifying genes.

Integrative Molecular Medicine

Introduction: The ketogenic diet improves cell energy and mitochondrial function and supplemental... more Introduction: The ketogenic diet improves cell energy and mitochondrial function and supplemental creatine can similarly improve cell energy. Our aim is to investigate the role of creatine as an adjunctive therapy to the ketogenic diet. Material and methods: A prospective study was carried out in 22 children with refractory epilepsy. All patients were initially on ketogenic diet and none was seizurefree, although 12 children had benefited. Results: Creatine supplementation produced a complete cessation of seizures in 2 patients and a 70% to 90% reduction in seizure frequency was reported in additional five patients. Creatine was well-tolerated and did not change the level of ketosis. Conclusions: Although these data involve a small cohort, the effects of creatine were uniformly positive or neutral. We suggest that creatine supplementation may increase the effectiveness of the ketogenic diet in seizure reduction, likely by increasing phosphocreatine and enhancing brain energy balance.

Journal of Medical Pharmaceutical And Allied Sciences

Case report A previously healthy two-years-old boy presented with multiple episodes of loss of co... more Case report A previously healthy two-years-old boy presented with multiple episodes of loss of consciousness with staring, pallor and unresponsiveness during warm bathing. The episodes were initiated four months ago, they lasted few seconds and had always postictal somnolence. The crises gradually had longer duration that lasted several minutes. Due to those episodes, the child was hospitalized and an EEG and a brain MRI

World Journal of Pediatrics

Journal of Forensic Biomechanics

The aim of this study was to emerge the problem of child physical abuse in northern Greece and to... more The aim of this study was to emerge the problem of child physical abuse in northern Greece and to highlight the characteristics of the children that are in danger, as few relevant studies have been conducted in that area so far. Methods: A retrospective study was designed based on data that derived from the Forensic Service of Thessaloniki, through the period 2005-2015. The archive was in paper form and included allegations of physical abuse related to children. Results: 90 consecutive incidents were totally recorded during this period. The age of the child related to offender's sex (p=0.001) and male offenders abused frequently older children, in contrast to women whose victims were usually young children. A significant relationship found between the gender of the offender and the existence of domestic violence (p=0.037) and in most cases, the male offender abused not only the child but also the other members of the family. Fatal incidents of severe physical abuse were associated to the age of the victim (p=0.002), the psychiatric profile and the use of prohibited substances by the offender (p=0.023). Young children, whose parents suffered from a psychiatric disease or they were drug users, had greater chance to die from an injury. Conclusion: The small number of the allegations attributed to the fact that most cases of physical abuse are unreported and usually end up in hospitals and less to the police and the Forensic Services. Although the majority of the variables that were studied agree to the literature, further research in large study population is recommended, in order to define the characteristics of the children that are in danger in Greece. Actions are required at all levels of prevention, emphasizing to the early detection of the problem and the effective management.

Quantitative Imaging in Medicine and Surgery, 2016

Brain and Development, 2016

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination ... more Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients.

European Respiratory Journal, 2016

Neuropediatrics, 2016

Background The aim of this study is to investigate through polysomnography sleep quality in child... more Background The aim of this study is to investigate through polysomnography sleep quality in children with rolandic epilepsy and compare sleep variables between these children and healthy controls. Methods Our study population included 15 children with rolandic epilepsy and 27 healthy children who underwent overnight polysomnography. Parameters about sleep architecture and sleep respiratory events were recorded and analyzed. The level of statistical significance was set at 0.05. Results Patients and controls did not differ in basic epidemiological traits. The percentage of sleep stage rapid eye movement was significantly lower in the epilepsy group. Moreover, the mean value of the obstructive apnea index and the obstructive apnea-hypopnea index was significantly higher in children with rolandic epilepsy compared with healthy children. Longest apnea duration and basal Spo 2 during sleep had also the trend to be higher and lower, respectively, in children with epilepsy. Conclusions Children with rolandic epilepsy exhibit alterations in sleep architecture, as well as in sleep respiratory patterns. Therefore, sleep quality should be routinely considered in the long-term follow-up of these children.

Journal of Pediatric Sciences, Dec 15, 2013

Epilepsy Research, 2016

The aim of this study is to explore and compare through polysomnography respiratory sleep paramet... more The aim of this study is to explore and compare through polysomnography respiratory sleep parameters between children with idiopathic epilepsy and healthy children. Our cross-sectional study included 40 children with idiopathic epilepsy and 27 healthy children, who underwent overnight polysomnography. Data about sleep respiratory parameters were obtained and statistically analyzed. The level of statistical significance was set at 0.05. The prevalence of Obstructive Sleep Apnea Syndrome was significantly higher in the epilepsy group (35% vs 7.4%, p&amp;amp;amp;lt;0.01). Moreover, the odds ratio of an obstructive apnea index ≥1 in the epilepsy group was 10.6 (95% Confidence Intervals: 3.08-37.08) in comparison to the control group. The mean value of the obstructive apnea-hypopnea index was significantly higher in children with epilepsy compared to healthy children (2.46±1.22 vs 1.21±0.83, p=0.027). The mean values of central apnea index and desaturation index were comparable between these two groups. Longest apnea duration was significantly higher in the group of poor seizure control. All other sleep respiratory variables did not differ significantly between children with poor and good seizure control and between children with generalized and focal epilepsy. Children with epilepsy seem to present more prominent sleep breathing instability in comparison to healthy children, which mainly includes a predisposition to obstructive respiratory events. More studies are needed to investigate the relationship between sleep apneas and seizure control.

The Indian Journal of Pediatrics, 2016

Journal of Pediatric Sciences, 2011

Stroke in childhood is one of the most common causes of death or severe impairment worldwide, wit... more Stroke in childhood is one of the most common causes of death or severe impairment worldwide, with annual incidence estimated from 1,3 to 13 cases/100.000 population. The definition of stroke consists both of arterial ischemic stroke (AIS) and hemorrhagic stroke. The incidence of ischemic and hemorrhagic stroke in children is approximately the same, in contrast to adults, while the incidence is higher in boys than it is in girls. Risks factors for pediatric stroke differ from those for adults, with arteriopathy and infections being the most commonly risk factors, followed by cardiac diseases. Clinical presentation of stroke in childhood depends on the affected area of the brain, with focal neurological deficit being the most common presentation in older children. The existence of stroke mimics and lack of typical findings in early neuroimaging lead to delay in diagnosis and poor prognosis. The adequate therapy has improved the outcome from pediatric stroke. However, this must be instituted within 3 to 6 hours. Prognosis of pediatric stroke is generally poor, depe nding on underlying condition. 10% of children who have stroke die, 20% have recurrent stroke and 70% have severe deficits. Our goal should be the rapid diagnosis and therapeutic management, which can contribute to improved outcomes in pediatric stroke.

Journal of Proteome Research, Mar 1, 2011

Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy ... more Deficiency of the sulfide metabolizing protein ETHE1 is the cause of ethylmalonic encephalopathy (EE), an inherited and severe metabolic disorder. To study the molecular effects of EE, we performed a proteomics study on mitochondria from cultured patient fibroblast cells. Samples from six patients were analyzed and revealed seven differentially regulated proteins compared with healthy controls. Two proteins involved in pathways of detoxification and oxidative/reductive stress were underrepresented in EE patient samples: mitochondrial superoxide dismutase (SOD2) and aldehyde dehydrogenase X (ALDH1B). Sulfide:quinone oxidoreductase (SQRDL), which takes part in the same sulfide pathway as ETHE1, was also underrepresented in EE patients. The other differentially regulated proteins were apoptosis inducing factor (AIFM1), lactate dehydrogenase (LDHB), chloride intracellular channel (CLIC4) and dimethylarginine dimethylaminohydrolase 1 (DDAH1). These proteins have been reported to be involved in encephalopathy, energy metabolism, ion transport, and nitric oxide regulation, respectively. Interestingly, oxidoreductase activity was overrepresented among the regulated proteins indicating that redox perturbation plays an important role in the molecular mechanism of EE. This observation may explain the wide range of symptoms associated with the disease, and highlights the potency of the novel gaseous mediator sulfide.

European Journal of Paediatric Neurology, 2016

Although ketogenic diet has been proven useful in the management of intractable seizures, interac... more Although ketogenic diet has been proven useful in the management of intractable seizures, interactions with other medicines have been reported. This study reports two patients on co-administration with ketogenic diet and valproate appearing undesirable side effects after increase or decrease of valproate pharmaceutical levels. Totally 75 patients suffering from drug-resistant epilepsy were treated with ketogenic diet in our departments. Their age varied from 6 months to 9 years. All patients were followed for at least 12 months and up to five years. Clinical and laboratory variables have been regularly assessed. In 75 patients treated with ketogenic diet and valproate at the same time treatment was well tolerated. Two patients presented mild to moderate undesirable effects. In these patients the removal of valproate treatment resulted in an increase of ketosis with respective clinical signs. The conversion of the diet from 4:1 to 1:1 and 2,5:1 respectively resulted in reduction of ketosis and clinical improvement. In the majority of cases co-administration of valproate and ketogenic diet seems to be safe. In two cases, valproate appeared to have a negative effect on ketosis (and weaning it led to over-ketosis). This interaction is worthy of future study.

Toxicology International, 2015

Vincristine-induced neurotoxicity is an adverse effect commonly seen in pediatric patients treate... more Vincristine-induced neurotoxicity is an adverse effect commonly seen in pediatric patients treated for cancer. We hereby present a case of a 6-year-old boy with acute lymphoblastic leukemia, who developed bilateral eyelid ptosis 25 days after the last intravenous administration of vincristine (cumulative dose 14.2 mg i.e., 17.75 mg/m²). The boy was treated with 5 mg/kg thiamine and with 10 mg/kg pyridoxine. Complete recovery of ptosis was noticed 4 weeks after the initiation of Vitamins B1 and B6 supplementation therapy.