Maria Eboriadou

The Role of PTPN22 C1858T Gene Polymorphism in Diabetes Mellitus Type 1: First Evaluation in Greek Children and Adolescents

Type 1 diabetes mellitus (T1DM) is an autoimmune multifactorial disease. Protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene encodes lymphoid-specific tyrosine phosphatase (Lyp), an inhibitor of T cell activation. PTPN22 C1858T polymorphism was associated with T1DM in populations of Caucasian origin. The aim of this study was the investigation for the first time of the association of PTPN22 C1858T polymorphism with T1DM in Greek population. We studied 130 children and adolescents with T1DM and 135 healthy individuals of Greek origin. The polymorphism was genotyped using polymerase chain reaction with restriction fragment length polymorphism. C1858T and T1858T genotypes as well as 1858T allele were found more frequently in patients (10.8% and 5.8%, resp.) than in healthy individuals (5.9% and 3.0%, resp.) but at non statistically significant level. There was no statistically significant association found with gender, age at diagnosis, severity of onset, history of Hashimoto thyroiditis or family history of T1DM. Increased frequency of 1858T allele in patients than in controls, implying a probable association, agrees with results of similar studies on other populations. The inability to find a statistically significant difference is probably due to the decreased frequency of minor allele in Greek population, indicating the need for a larger sample.

Hyponatraemia in cases of children with pneumonia.

Introduction Hyponatraemia is the most common electrolyte imbalance seen in clinical practice, and a common laboratory finding in children with community-acquired pneumonia (CAP). This study aimed to identify the incidence of hyponatraemia in cases of CAP, to find predictive tools in order to classify the severity and outcome of CAP and to explore possible differences of clinical importance between the two sexes. Material and methods The medical files of 54 children (66.4% males), 4.67 ±2.88 years old, were retro-prospectively reviewed. Results 35/54 (64.8%) children with pneumonia had normal values of sodium at admission, 18/54 (33.3%) had mild hyponatraemia and 1 child (1.9%) moderate hyponatraemia. Increased heart rhythm and tachypnoea at admission were correlated with lower values of sodium (z= −2.664, p = 0.007 and z = −1.705, p = 0.089 respectively). No differences were found between the two sexes concerning the characteristics of pneumonia or the range of sodium in serum at admission. A correlation was found between sodium admission values and: a) C-reactive protein (p = 0.000), and b) leukocyte count (p = 0.006). Sedimentation rate (p = 0.021) was also considered as a possible risk factor affecting the value of sodium at admission to hospital. Finally, a negative association was also observed between the degree of hyponatraemia and the duration of hospitalization (z = −3.398, p = 0.001). Conclusions Although studies in larger population groups are needed, in our study increased heart rhythm, tachypnoea, leucocyte count, C-reactive protein, and also erythrocyte sedimentation rate could be considered as possible risk factors influencing the degree of hyponatraemia, and thus the outcome of hospitalized children with CAP.

The role of TLR4 and CD14 polymorphisms in the pathogenesis of respiratory syncytial virus bronchiolitis in greek infants.

Clinical manifestations of respiratory syncytial virus (RSV) infection vary from minimal disease to severe acute bronchiolitis. The structural complex of TLR4/CD14 participates in the virus recognition as a component of natural immune response. Genetic variations of TLR4/CD14 may explain great variations in disease severity. The aim of this study was to investigate the possible role of polymorphisms of TLR4, Asp299Gly and Thr399Ile and CD14, C-159T and C-550T in the development of RSV bronchiolitis. Our study included two groups of Greek infants and young children (A and B). Group A consisted of 50 infants ≤2 years of age hospitalised with bronchiolitis and group B of 99 previously healthy children aged 4–14 years (control group) with a free past medical history. RSV was indentified by PCR of genetic material that was extracted from nasopharyngeal samples collected from all patients. Blood samples were used to extract DNA and by using the PCR-RFLP method we performed TLR4 and CD14 genotyping. We found no association between TLR4 polymorphisms (Asp299Gly and Thr399Ile) and the development of acute bronchiolitis. For CD14 polymorphisms, a positive association was found between the C-159T and the development of bronchiolitis (p=0.05) but not for the other loci. There were no differences detected in the frequencies of the four polymorphisms studied among infants with RSV and non-RSV bronchiolitis. It is concluded that protein CD14 may have a functional role in the viral conjunction to the structural complex TLR4/CD14. The association between the polymorphism C-159T and the manifestation of disease found in our study points out that the severity in the development of acute bronchiolitis is not specified exclusively by the pathogen, but the immune response of the host also plays a significant role. More extensive multicentric studies need to take place, in order to lead to safer conclusions.

Sleep apneas and epilepsy comorbidity in childhood: a systematic review of the literature

PurposeOur aim is to review studies which assess the prevalence of sleep apneas in children with epilepsy and discuss possible mechanisms linking these two conditions, as well as the impact of sleep apneas on the prognosis of these children.MethodsPubMed was used as the medical database source, and articles were selected and classified according to their originality, level of evidence, and relevance to the broad scope of the review.ResultsChildren with epilepsy have a higher prevalence of sleep breathing disorders in comparison to healthy children, but this prevalence varies widely depending on the methodology of each study. Major risk factors for sleep apneas in childhood epilepsy include mainly poor seizure control and antiepileptic drug polytherapy. Indeed, epilepsy can trigger sleep apneas, as abnormal electrical discharge amplifies sleep-induced breathing instability, antiepileptic drugs disturb muscle tone, and vagus nerve stimulation modulates neurotransmission to airway muscles. On the other hand, sleep apneas enhance sleep fragmentation, thus reducing the threshold for the appearance of seizures. Moreover, they have a negative effect on the neurocognitive profile of these children, as they disturb neuroplasticity mechanisms and also have a probable association with sudden unexpected death in epilepsy. The surgical treatment of sleep apneas has been found to reduce seizure frequency, and this can offer new therapeutic choices.ConclusionsBetween sleep apneas and childhood epilepsy, there is a complex relationship with reciprocal interactions. The presence of sleep apneas should be taken into account when designing the management of these children, as it creates therapeutic opportunities and limitations.

Human bocavirus infections in hospitalized Greek children.

Introduction The epidemiology of human bocavirus (HBoV) infections has not been described in Greece, a south-eastern European country. To define the epidemiological profile and the clinical characteristics associated with HBoV infection in a population of children hospitalized with respiratory tract infection. Material and methods During a one-year period throat swab samples were collected from 370 previously healthy children, aged 14 days to 13 years, admitted to two different paediatric wards because of respiratory tract infection. Samples were tested for HBoV by PCR amplifying a part of the NS1 gene. Results Human bocavirus was detected in 12 children (3.2%). Four of the 12 cases were co-infections, 3 of them with influenza A and 1 with coronavirus OC43. Cases were observed only during the cold months. The mean age of children was 1.8 years (range 2 months to 4 years). The most common symptoms were fever, cough and various degrees of respiratory distress. All children were clinically diagnosed as having lower respiratory tract infections, mainly pneumonia and acute laryngotracheobronchitis, and recovered uneventfully. Conclusions HBoV infections occur in Greece mostly among very young children. They accounted for 3.2% of children hospitalized with acute respiratory disease. Cases were observed only in late autumn to early spring.

Acute laryngotracheobronchitis and associated transient hyperphosphatasemia: A new case of transient hyperphosphatasemia in early childhood

We report the case of a 20‐month old boy with markedly elevated serum alkaline phosphatase (ALP) levels, documented during an episode of acute laryngotracheobronchitis. Biochemical investigations and imaging studies revealed no evidence of bone or liver disease. Transient hyperphosphatasemia (TH) was confirmed when serum ALP levels normalized within 2 months. Several theories were suggested for TH pathophysiology, viral infections among them; the exact causes, however, remain unclear. It is important to recognize TH and avoid misdiagnosis and unnecessary investigations.

Reduced exercise capacity in Greek children with mild to moderate obstructive sleep apnea syndrome

Obstructive sleep apnea syndrome (OSAS) is a common disease that is increasingly recognized among pediatric population. The exercise capacity of adults with OSAS has been demonstrated to be impaired, but there are no data about pediatric exercise response.

Septic pulmonary embolism due to Staphylococcus aureus

© 2008 Japan Pediatric Society We read with great interest the report from Yuksel et al. regarding the development of septic pulmonary embolism secondary to osteomyelitis published in Pediatrics International . 1 Septic pulmonary embolism (SPE) represents an uncommon disorder that typically presents with an insidious onset of fever, respiratory symptoms, and pulmonary infi ltrates. 2 Generally the diagnosis of SPE is suggested on radiography and clinical evidence of infection. 3,4 We report the case of a 9-year-old boy who developed SPE due to Staphylococcus aureus without any predisposing risk factors. A 9-year-old boy was admitted to Second Department of Pediatrics , Aristotle University of Thessaloniki with fever and marked respiratory distress. His illness had begun 2 days previously with cough and fever. On physical examination the patient was found to be pyrexial, tachycardiac and tachypneic with low oxygen saturation on room air (SaO 2 : 90%) and stable blood pressure. Chest examination indicated diminished breath sounds on both sides. Laboratory data indicated leukocytosis (white blood cell count, 19000/mm 3 with 97% neutrophils), erythrocyte sedimentation rate 70 mm/h, C-reactive protein 29.92 mg/dL and procalcitonin 20.02 ng/mL. Arterial blood gas indicated marked hypoxemia with a PO 2 of 59 mmHg. Chest radiography indicated bilateral lower lobe infi ltrates. Empiric broad-spectrum i.v. antibiotics (amoxicillin + clavulanic acid and clarythromycin) were initiated immediately. Because of the progressive dyspnea chest computed tomography (CT) was performed on day 2 after admission, which showed multiple scattered nodular lesions, most located subpleurally and measuring approximately 1 – 3 cm in diameter, in both lung fi elds, suggestive of septic emboli ( Fig. 1 ). On day 3 the patient’s clinical condition had improved and blood cultures had grown methicillin-resistant S. aureus (MRSA). Therefore, a diagnosis of SPE secondary to S. aureus septicemia was established. The patient was treated with i.v. vancomycin. On the 6th day of hospitalization he became afebrile but had a severe left-side chest pain worsened by movement and deep breaths. Lung auscultation indicated diminished murmur over the left lung fi elds. Immediate bedside chest radiograph and CT indicated pneumothorax on the left lung. The boy was taken to the operating room for surgical drainage and thoracostomy to manage the pneumothorax. These treatments resulted in a successful outcome, and the boy was discharged on day 22 in excellent clinical condition. Septic pulmonary embolism is defi ned as the coexistence of multiple lung infi ltrates coupled with isolation of bacteria from the blood or their infection source. SPE is a often a complication Letter to the Editor Septic pulmonary embolism due to Staphylococcus aureus

Sleep respiratory parameters in children with idiopathic epilepsy: A cross-sectional study.

BACKGROUND The aim of this study is to explore and compare through polysomnography respiratory sleep parameters between children with idiopathic epilepsy and healthy children. METHODS 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. RESULTS The prevalence of Obstructive Sleep Apnea Syndrome was significantly higher in the epilepsy group (35% vs 7.4%, p<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. CONCLUSIONS 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.

Do Parental Smoking Habits Differ in Children with Asthma/Wheezing Disorders?

Objective: Second-hand smoke exposure in children is a recognized risk factor for asthma/wheezing. Even brief exposure can be harmful. Adult smoking prevalence in Greece is of the highest worldwide and pediatric asthma rates are raising. Our objective was to investigate parental smoking habits in homes of children with and without bronchial asthma/wheezing disorders. Methods: This is a case-control study that included 90 children aged 1, 5-17 years old subdivided into two groups: 51 children with asthma/wheezing and 39 healthy peers. SHS exposure was estimated by both questionnaires on smoking habits reported by parents and urinary nicotine and cotinine levels in children. Results: Based on both questionnaires and urinary biomarkers, smoking habits between two groups were not significant (p=0.291). Urinary cotinine assays unveild more children to be exposed to SHS (98% in cases and 89.4% in controls) than reported by their parents (62.75% in cases and 66.6% in controls). More cases were heavier exposed to SHS than controls (>10 ng/ml). Home smoking restrictions between two groups didn’t reach statistical significance though they were found to affect urinary cotinine levels in children. Conclusions: Parental smoking habits do not differ between families of children with and without asthma/ wheezing disorders. Parents, especially those nurturing a child with respiratory tract disease, tend to underreport SHS exposure.