A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear

WOS: 000375145200016PubMed ID: 26808373Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear

The Impact of Transfusion and Chelation on Oxidative Stress in Immigrant Syrian Children with beta-Thalassemia

Iron overload in beta-thalassemia major and intermedia patients leads to oxidative stress and causes to formation of lipid hydroperoxides. Thiobarbituric acid reactive substances (TBARS) are a well established method for screening and monitoring of lipid peroxidation. We aimed to investigate serum TBARS and its relationship with biochemical and hematologic parameters of Turkish and immigrant Syrian beta-thalassemia children reflecting the effects of this socioeconomic condition on follow up of these patients. Lipid peroxidation products (TBARS) of Turkish (TR) (n = 62, from the cities of Gaziantep and Sivas, Turkey) and Syrian (SYR) (n = 34, from Gaziantep, Turkey) beta-thalassemia patients aged 2-17 years and 58 healthy subjects aged 2-16 years were studied. Liver and renal function tests, serum ferritin levels, white blood cell, absolute neutrophil and platelet counts, hemoglobin (Hb) levels of the patients were analyzed. Serum TBARS concentrations were found to be elevated in beta-thalassemia patients compared to healthy subjects (mean: 12.47 +/- 8.53 vs. 9.78 +/- 7.09, p = 0.045). In SYR patients mean pretransfusional Hb level (7.26.2.04 vs. 8.49 +/- 1.01, p = 0.002) was lower and ferritin levels (5983.56 +/- 5065.56 vs. 3234.60 +/- 2237.82, p = 0.001), liver enzymes (ALT: 77.82 +/- 76.48 vs. 42.13 +/- 51.50, p = 0.005) were higher when compared to TR group. Positive correlation between TBARS and ferritin levels (p = 0.029, r = 0.231) and liver enzymes (for ALT p < 0.001, r = 0.373) was observed. beta-thalassemia patients are under more oxidative stress than healthy subjects. Liver is one of the major organs which are mainly affected by oxidative stress. War and migration might have caused inappropriate transfusion conditions and insufficient chelation therapy in the SYR group

Young children's sleep patterns and problems in paediatric primary healthcare settings: a multicentre cross-sectional study from a nationally representative sample

Studies describing paediatric sleep patterns are needed by taking culture into consideration. The aim of this study was to identify parent-reported sleep-wake patterns in young children and explore possible factors influencing sleep problems. The mothers of 2,434 young children enrolled from well-child outpatient clinics in Turkey completed an online survey including sociodemographic variables, Brief Infant Sleep Questionnaire, Edinburgh Postnatal Depression Scale and Generalised Anxiety Disorder scales. Overall, young children in Turkey go to bed late (10:00 p.m.), awaken twice per night for 30 min, and obtain 11.5 h of total sleep, showing no sex-specific differences. Distinct night-time sleep patterns emerged after 18 months of age. Importantly, although currently breastfed healthy children were 3.8-times less likely to sleep through the night, total sleep duration and exclusive breastfeeding duration were higher in children who were not sleeping through the night. Overall, bedsharing was identified in 11.5%, and only room sharing was reported in 52.9%. Parental perception of a child's sleep as problematic was 35.8%. Mothers with higher educational attainment were more likely to perceive their children's sleep as a problem. Maternal depressive and anxious symptoms and a history of excessive infant crying were the determinants predicting the likelihood of both parent-perceived sleep problems and poor sleepers. The present analysis of sleep structure in infancy and toddlerhood provides reference data for well-child visits. These findings highlight the importance of considering maternal anxiety, depression and behaviour management techniques to cope with fussy infants in addressing childhood behavioural sleep problems