Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was <3rd percentile for height and weight and showed some developmental delay. Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal changes in periventricular cerebral white matter, and leukodystrophy was suspected. Chromosomal analysis of the patient showed terminal deletion of chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A review of published reports shows that the severity of the observed clinical abnormalities in patients with JS is not clearly correlated with the extent of the deletion. Most of the patients with JS had short stature, and some of them had documented growth hormone deficiency, or central or primary hypothyroidism. In patients with the classical phenotype, the diagnosis is suspected on the basis of clinical findings: intellectual disability, facial dysmorphic features and thrombocytopenia. The diagnosis must be confirmed by cytogenetic analysis. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. In this report, we describe a patient with the clinical features of JS without thrombocytopenia. To our knowledge, this is the first case reported from Turkey.

Effect of overweight on P-wave and QT dispersions in childhood.

OBJECTIVES: The effects of obesity on atrial conduction and ventricular repolarization have been studied in detail, but these parameters have not been well documented in overweight children. The aim of our study was to investigate the effects of overweight on atrial conduction and ventricular repolarization in children by using P-wave dispersion (Pw-d) and QT dispersion (QT-d) analyses. STUDY DESIGN: Sixty-seven overweight children and 70 children within normal limits were included in this cross-sectional prospective controlled study. All subjects underwent electrocardiographic and anthropometric evaluation, and blood samples were obtained. Pw-d and QT-d were investigated between two groups. RESULTS: Homeostatic model assessment of insulin resistance levels were higher in the overweight group (2.9±1.2 vs. 1.1±0.8, p=0.001). No statistically significant differences were found in Pw-d and QT-d when the groups were compared. The following findings were recorded for the overweight and control groups, respectively: mean RR interval (635±42 msec vs. 645±45 msec, p=0.867), Pw-d [30 (10-55) msec vs. 27.5 (15-50) msec, p=0.441] and QT-d (30 (15-55) msec vs. 22.5 (10-60) msec, p=0.476). In addition, Pw-d and QT-d were not correlated with the levels of insulin or body mass index. CONCLUSION: There was no significant difference in atrial conduction or ventricular repolarization features between overweight children and normal-weight children.

Indices used in differentiation of thalassemia trait from iron deficiency anemia in pediatric population: are they reliable?

BACKGROUND: Iron deficiency (IDA) and beta thalassemia trait (TT) are the most common causes of hypochromia and microcytosis. Many indices have been defined to quickly discriminate these similar entities via parameters obtained from automated blood cell analyzers. However, studies in the pediatric age group are scarce and their results are controversial. METHODS: We calculated eight discrimination indices [Mentzer Index (MI), England and Fraser Index (E&F), Srivastava Index (S), Green and King Index (G&K), Shine and Lal Index (S&L), red blood cell (RBC) count, RBC distribution width, and red blood cell distribution width Index (RDWI)] in 100 patients. We calculated sensitivity (SENS), specificity (SPEC), positive and negative predictive value (PPV and NPV), and Youden's Index (YI) of each discrimination index. RESULTS: None of the discrimination indices showed a SENS and SPEC of 100%. The highest SENS was obtained with S&L (87.1%), while the highest SPEC was obtained with E&F formula (100%). The highest YI value was obtained with E&F formula (58.1%). CONCLUSION: In our study, none of the formulas appears reliable in discriminating between TT and IDA patients. The evaluation of iron status and measurement of hemoglobin A(2) (HbA(2)) remain the most reliable investigations to differentiate between TT and IDA patients.

CD4(+), CD25(+), FOXP3 (+) T Regulatory Cell Levels in Obese, Asthmatic, Asthmatic Obese, and Healthy Children.

The aim of this prospective case control study is to determine CD4(+), CD25(+), and FoxP3(+) T regulatory cells (Tregs) and T helper cells (Ths) in obese, asthmatic, asthmatic obese, and healthy children. Obese (n = 40), asthmatic (n = 40), asthmatic obese (n = 40), and healthy children (n = 40) were included in this study. Blood samples collected from children were marked with CD4, CD25, ve Foxp3 in order to detect Tregs and Ths by flow cytometric method. Statistical analyses were performed. p ≤ 0.05 was chosen as meaningful threshold. Tregs exhibiting anti-inflammatory nature were significantly lower in obese (0.16 %; p ≤ 0.001), asthmatic (0.25 %; p ≤ 0.01), and asthmatic obese (0.29 %; p ≤ 0.05) groups than control group (0.38 %). Ths were counted higher in asthma group than control (p ≤ 0.01) and obese (p ≤ 0.001) groups. T cell immunity plays important roles in chronic inflammatory diseases such as obesity and asthma pathogeneses. Decreased numbers of Tregs found in obese, asthmatic, and asthmatic obese children might represent a challenge of these cells.

Shifting epidemiology of hepatitis a infection and vaccination status of children aged 6 months-12 years: time for mass vaccination.

OBJECTIVE: This study was designed to determine the current age-related hepatitis A virus (HAV) seroprevalance, vaccination status of children and to evaluate the epidemiological shift in HAV serostatus living in Tekirdag, which is located in Thrace region, the European part of Turkey. METHODS: Children 6 months-12 years of age with simple health problems were included. Blood samples were studied for HAV IgM and IgG collectively. A questionnaire addressing several characteristics of subjects was administered to obtain basic descriptive data on HAV epidemiology. Vaccination status of the children was recorded according to the immunization cards. FINDINGS: The overall anti-HAV IgM and anti-HAV IgG prevalance in children aged 6 months - 12 years was 3.3% and 25.4% respectively. Maximum hepatitis A IgM positivity was in the 7-12 years age group 4.8% (n= 12; P<0.001) and maximum hepatitis A IgG positivity in the same age group was 34% (n = 85; P<0.001). HAV vaccination rate among patients aged more than 2 years was 11.03%. HAV IgG seroprevalance was higher in children of low monthly income families (36.1%, n = 78; P<0.001) than in the intermediate (17%, n = 31) and high income families (11.1%, n = 6). CONCLUSION: These results indicate a shift in Hepatitis A seroprevalance when compared with the previous studies. As HAV infection in childhood is decreasing, the pool of susceptible adolescents and young adults is increasing. Introduction of hepatitis A vaccination into the national immunization schedule of Turkey should be considered.

Childhood asthma and vitamin D deficiency in Turkey: is there cause and effect relationship between them?

BACKGROUND: Epidemiological studies show that vitamin D deficiency and insufficiency are common worldwide and associated with many diseases including asthma. Our aim was to evaluate vitamin D insufficiency and its clinical consequences. METHODS: This cross-sectional study was carried out on 170 children consisted of 85 who were asthmatic and 85 who were not, aged 2 to 14 years in Tekirdag, Turkey, from September 2009 to May 2010. Children's basal serum D vitamin levels were determined, and their eating habits, vitamin D intake, exposure to sunlight and use of health services during the previous year were investigated. The severity of asthma and levels of asthma control were assessed according to the Global Initiative for Asthma guidelines. RESULTS: The difference between mean vitamin D levels in the asthmatic group (mean +/- SD) 16.6 +/- 8.5 ng/mL and the healthy control group (mean +/- SD) 28.2 +/- 19.5 ng/mL was found to be statistically significant (p < 0.001). Children in the asthma group had less exposure to sunlight and ate a diet less rich in vitamin D (p < 0.001). A significant difference was observed between the groups regarding the frequency of respiratory tract infections leading to emergency unit admissions and number of hospitalizations (p < 0.001). It was also shown that a decrease in vitamin D level increased the severity of asthma (p < 0.001) and decreased the frequency of controlled asthma (p = 0.010). CONCLUSION: This study has demonstrated the correlation between plasma 25 (OH) D levels and childhood asthma. Evidently, this relationship being influenced by multiple factors other than vitamin D, further studies should be conducted to explore the interrelation between all such factors.