The gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

The aim of the current study was to determine the frequency of the Mediterranean fever () gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants.

Do we really ponder about necessity of intravenous hydration in acute bronchiolitis?

Objective: The goal was to establish the role of intravenous hydration therapy on mild bronchiolitis.

Methods: This was a retrospective case control study. Infants between 1 month and 2 years of age admitted to our general pediatrics ward between June 2012 and June 2013 with a diagnosis of uncomplicated acute bronchiolitis were enrolled to the study.

Subclinical Left Ventricular Longitudinal and Radial Systolic Dysfunction in Children and Adolescents with Type 1 Diabetes Mellitus.

Introduction: There are few studies of subclinical systolic dysfunctions in children and adolescents with type 1 diabetes mellitus (DM), and so the available data are limited. The aim of this study was to determine early echocardiographic signs of LV systolic dysfunction in children and adolescents with type 1 DM using two-dimensional speckle tracking echocardiography (2DSTE).

Material And Methods: The study included 84 children and adolescents with type 1 DM and 32 sex-, age-, and body mass index-matched healthy subjects.

Prevalence of overweight and obesity among patients with congenital and acquired heart disease in Kocaeli, Turkey.

Background: Childhood obesity has increased in the last half of the century. The aim of this study was to evaluate the frequency of obesity in the children with congenital or acquired heart disease.

Methods: A total of 1410 children were assessed in this study.

Predictors of vasovagal syncope recurrence in children and adolescents and value of head-up tilt table test.

Objective: The aim of the study was to define predictors of syncope recurrence in children and adolescents with vasovagal syncope and to determine the value of tilt test.

Methods: A retrospective observational study performed of prospective cohort of 150 patients aged between 8-18 years who were referred to our clinic because of fainting or who underwent tilt test with the pre-diagnosis of vasovagal syncope. The progress updated by telephone or face-to-face interview.

Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities.

Crossed pulmonary arteries (CPAs) are a rare abnormality in which the ostium of the left pulmonary artery originates superior to the right pulmonary artery and to its right. Recognition of this rare pathology is important because it generally is accompanied by other congenital heart defects, extracardiac anomalies, and certain genetic problems. To date, only a few cases have been reported, and most of these cases have been associated with complex cardiac abnormalities.

Functional pulmonary atresia in newborn with normal intracardiac anatomy: Successful treatment with inhaled nitric oxide and pulmonary vasodilators.

Functional pulmonary atresia is characterized by a structurally normal pulmonary valve that does not open during right ventricular ejection. It is usually associated with Ebstein's anomaly, Uhl's anomaly, neonatal Marfan syndrome and tricuspid valve dysplasia. However, functional pulmonary atresia is rarely reported in newborn with anatomically normal heart.

Does the z-score value of the abdominal aorta predict recoarctation in an infant?

Objective: We evaluated left ventricular dimensions and aortic arch z-scores in infants who underwent balloon angioplasty (BAP) or surgery for coarctation of aorta (CoA). We searched for risk factors predicting recoarctation.

Patients: Between 2007-2011, 27 male and 17 female infants (mean age 2.

Crisscross heart with tricuspid atresia diagnosed in utero.

Crisscross heart is a rare congenital cardiac anomaly in which systemic and pulmonary venous streams cross without mixing at atrioventricular level. We report a case of crisscross heart with tricuspid atresia, double outlet right ventricle, and pulmonary stenosis, which was diagnosed prenatally.

Management of an ascending aortic aneurysm associated with a bicuspid aortic valve and a coarctation in an adolescent.

Ascending aortic aneurysms are commonly associated with bicuspid aortic valves in adults but are rarely seen in childhood. We now report the management of an ascending aortic aneurysm in a 12-year-old male with an associated bicuspid aortic valve and a coarctation.

Absence of the right pulmonary artery associated with a partial anomalous pulmonary venous connection.

Unilateral absence of a pulmonary artery is a rare anomaly. Patients may present with hemoptysis, recurrent respiratory infections, pulmonary hypertension, or congestive heart failure. This report describes the case of a missing right pulmonary artery associated with anomalous left pulmonary venous connection not previously described in the medical literature.

Preliminary results of propranolol treatment for patients with infantile hemangioma.

Propranolol, a non-selective beta-blocker, has recently been introduced as a treatment for infantile hemangiomas. In this study, we evaluated the effect of propranolol in 12 infants with hemangioma. Twelve infants (9 girls) with a median age of 4.

P-wave dispersion and heart rate variability in children with mitral valve prolapse.

Previous studies have reported that patients with mitral valve prolapse (MVP) may display autonomic dysfunction. Measurement of heart rate variability (HRV) and P-wave dispersion (PWD) may provide insights into the functional state of the autonomic nervous system. Heart rate variability (HRV) has been used as a noninvasive marker of autonomic activity.