The Effect of Genotype Differences on Cardiac Involvement in Cases Diagnosed with Duchenne Muscular Dystrophy.

Aim:  Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases.

The assessment of thoracal approaches in the treatment of aortic coarctation.

Objectives: The optimal choice of surgery in coarctation of the aorta (CoA) remains controversial but it needs to be individualised. However, in most conditions, a surgical approach through thoracotomy maintains adequate exposure to create aortic patency. This study aimed to assess the efficiency and reliability of thoracal approaches in the treatment of CoA by examining the mid- and late-term outcomes, and determining the predictive factors for re-intervention.

[Different surgical approaches to Scimitar syndrome].

Scimitar syndrome is a rare congenital heart defect characterized by the combination of vascular, bronchial, and parenchymal malformations. This syndrome includes anomalous right pulmonary venous drainage to the inferior caval vein, hypoplastic right pulmonary artery, right lung hypoplasia and the presence of aortopulmonary collaterals to the right lung. In this study, we evaluate the different surgical approaches of 3 cases with Scimitar syndrome who was corrected successfully.

Pretransplant Stable Systolic Cardiac Functions Play an Important Role in Short-term Systolic Cardiac Functions After Kidney Transplant in Children.

Objectives: In this study, our aim was to evaluate the systolic cardiac parameters and related risk factors in children within 6 months after kidney transplant.

Materials And Methods: We retrospectively evaluated 24 children who received kidney transplants. Clinical and laboratory parameters before and after transplant were recorded.

The subclinical effect of celiac disease on the heart and the effect of gluten-free diet on cardiac functions.

This study aimed to investigate the effects of celiac disease (CD) on cardiac function in children by using conventional transthoracic echocardiography (TTE) and tissue Doppler echocardiography (TDE). Forty-nine patients diagnosed with CD were enrolled into the study. Group 1 consisted of 26 (53%) patients who had recently been diagnosed and had not been on gluten-free diet whereas Group 2 consisted of 23 (47%) patients who had been on regular gluten-free diet for at least 10 months.

Abusive head trauma: two case reports.

Abusive head trauma is a serious form of child abuse and mostly seen in infants below the age of two years as a result of a strong shaking by the caregiver who aims to stop the infant's crying. Characteristic symptoms include subdural hematomas, encephalopathy, retinal hemorrhages and fractures of the long bones. When physically examined, there are generally no externally visible signs.

A Comparison of Bladder Catheterization and Suprapubic Aspiration Methods for Urine Sample Collection From Infants With a Suspected Urinary Tract Infection.

This study compares 2 sampling methods for urine cultures in young infants. We analyzed data on urine samples obtained from 83 infants using 2 sources of urine: suprapubic bladder aspiration (SPA) and bladder catheterization. All specimens were subjected to both urinalysis and culture, and the results compared.

Brain natriuretic peptide: the reason of respiratory distress is heart disease or lung disease?

Objectives: The aim of this study was to determine whether plasma levels of amino-terminal brain natriuretic peptide (BNP) could differentiate between heart failure and lung disease among infants with acute bronchiolitis.

Methods: Sixty-eight infants (age range, 1-26 months; median age, 5.9 ± 5.

The mechanical properties and stiffness of aorta in obese children.

Obesity in children has also been associated with the development of early cardiovascular abnormalities. The aim of this study was to investigate the relationship between aortic stiffness and some risk factors in obese children. Sixty obese children and 60 age- and sex-matched healthy controls were assessed.

Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity, and mutilating skin lesions. We discuss a female infantile case who was admitted for jaundice; bullous lesions appeared on her trunk during phototherapy in the neonatal period.

Anomalous origin of the left coronary artery from the pulmonary artery presenting as dilated cardiomyopathy.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly and one of the causes of myocardial ischemia. It often presents with atypical signs and symptoms, especially in childhood. In this case report, an 11-year-old girl presented with dilated cardiomyopathy in our clinic and was followed for five years.

A case of mitral papillary muscle rupture due to blunt chest trauma.

Mitral regurgitation due to papillary muscle rupture after blunt chest trauma is uncommon. Sudden onset severe mitral regurgitation may lead to death due to heart failure if surgical repair is delayed. A previously healthy 12-year-old girl underwent splenectomy and chest tube insertion for pneumothorax after a traffic accident in a vehicle 15 days before.

Assessment of myocardial dysfunction in neonates with hypoxic-ischemic encephalopathy: is it a significant predictor of mortality?

Objectives: Hypoxic-ischemic cerebral injury due to perinatal asphyxia is an important cause of neonatal mortality and morbidity. To predict who will survive or die due to this disorder still remains obscure. The aim of this study is to evaluate the predictive value of myocardial involvement in the assessment of mortality for the neonates with hypoxic-ischemic encephalopathy (HIE).

An unusual case of acute rheumatic fever presenting with unilateral pulmonary edema.

The differential diagnosis of acute rheumatic fever (ARF) in children, especially those younger than five years, may be difficult, even with strict application of the updated Jones criteria. They are likely to present with atypical symptoms that can mimic various conditions. Herein we report a 27-month-old girl with ARF presenting unilateral pulmonary edema secondary to severe mitral regurgitation.

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children.

Mannose-binding lectin (MBL) plays an important role in innate immunity mediating phagocytosis and activating the MBL complement pathway. Few studies, conducted in adult populations, have shown that genetically determined low MBL levels may confer partial protection against tuberculosis (TB). In this study we aimed to investigate the relationships between the susceptibility to TB and two low producing MBL2 gene polymorphisms (codons 54 and 57) and MBL levels in children.

Therapeutic efficacy of sequential and simultaneous treatments with interferon-alpha and lamivudine in children with chronic hepatitis B.

Background: Interferon (IFN)-alpha and lamivudine (LAM), a nucleoside analog, are frequently used drugs for the treatment of chronic hepatitis B (CHB), and their combined therapy has been shown to be effective. The purpose of the present study was to examine the therapeutic efficacy of sequential and simultaneous combination therapies of IFN-alpha and LAM in children with CHB.

Methods: A total of 45 children with CHB, whose antibody status was positive for hepatitis B surface antigen (HBsAg), hepatitis B envelope antigen (HBeAg), and HBV-DNA at least for 6 months; who had alanine aminotransferase (ALT) levels 1.

Evaluation of aortic stiffness in children with chronic renal failure.

The measurement of aortic stiffness (As) [aortic strain (S), pressure strain elastic modulus (Ep) and pressure strain normalized by diastolic pressure (Ep*)] is suggested as an excellent marker of subclinical arterial sclerosis. We aimed to investigate the presence of As and to determine the relationship between As and some risk factors in children with chronic renal failure (CRF). Twenty-six pre-dialysis (PreD) [female/male (F/M) 7/19] patients and 23 chronic peritoneal dialysis (CPD) (F/M 13/10) patients were assessed.

Evaluation of children with a large pericardial effusion and cardiac tamponade.

Objectives: Large pericardial effusions and cardiac tamponade are rare in childhood. The aim of this study was to evaluate the aetiological factors and clinical findings of large pericardial effusion and cardiac tamponade in children.

Methods: We reviewed retrospectively the records of 10 (6 male, 4 female) patients (mean age: 8.