Acute rheumatic fever in south-east of Turkey: clinical features and epidemiological evaluation of the patients over the last 25 years.

This study evaluates clinical and epidemiological features of acute rheumatic fever using the data of last 25 years in our hospital in south-east of Turkey. The medical records of 377 patients with acute rheumatic fever admitted to Pediatric Cardiology Department of Çukurova University during 1993-2017 were retrospectively analysed. Two hundred and six patients were admitted between 1993 and 2000, 91 between 2001 and 2008, and 80 between 2009 and 2017. The largest age group (52%) were between 9 to 12 years of age and approximately two-thirds of the patients presented in the spring and winter seasons (62.8%). Among the major findings, the most common included carditis 83.6% (n = 315), arthritis at 74% (n = 279), Sydenham's chorea at 13.5% (n = 51), and only two patients (0.5%) had erythema marginatum and two patients (0.5%) had subcutaneous nodule. Carditis was the most common manifestation observed in 315 patients (83.6%). The most commonly affected valve was the mitral valve alone (54.9%), followed by a combined mitral and aortic valves (34%) and aortic valve alone (5.7%). Of the patients with carditis, 48.6% (n = 153) had mild carditis, of which 45 had a subclinical. Sixty-two patients (19.7%) had moderate and 100 patients (31.7%) had severe carditis. At the follow-up, 2 patients died and 16 patients underwent valve surgery. Twenty-eight (7.4%) patients' valve lesions were completely resolved. Conclusion: Although the incidence of acute rheumatic fever decreased, it still is an important disease that can cause serious increases in morbidity and mortality rates in our country.

A Case of Idiopathic Pulmonary Hemosiderosis Presenting With Signs and Symptoms Mimicking Hemolytic Anemia.

Idiopathic pulmonary hemosiderosis is primarily a disorder of childhood, which is characterized by hemoptysis, iron deficiency anemia, and diffuse parenchymal infiltrates on chest x-ray secondary to recurrent attacks of alveolar hemorrhage. It can be diagnosed by showing hemosiderin laden macrophages in bronchoalveolar lavage fluid after other specific causes of diffuse alveolar hemorrhage are definitely excluded. A 5-year-old male patient was admitted to our clinic with sudden-onset pallor during iron therapy given for anemia. While he was being investigated for clinical and laboratory signs mimicking hemolytic anemia, he developed cough and dyspnea. He had infiltrates on chest x-ray and scattered patchy infiltrates in both lungs on high-resolution computed tomography. Hemosiderin laden macrophages were identified in fasting gastric juice and bronchoalveolar lavage fluid. The patient was diagnosed with idiopathic pulmonary hemosiderosis and started corticosteroid therapy.

Evaluation of carotid intima-media thickness in children with migraine: a marker of subclinical atherosclerosis.

Migraine is a commonly seen neurovascular disorder during childhood. Inflammation induced by the activation of cytokines and neuropeptides is implied in its pathophysiology. There is an association between inflammation and atherosclerosis in patients with migraine. In addition, there is a strong correlation between early atherosclerotic wall lesions and carotid intima-media thickness (CIMT). The study population consisted of 57 migraine patients aged 5-17 years, as well as 47 healthy children who served as the control group. Those migraine patients who were not receiving any medications at the interictal period were compared to healthy controls in terms of their measured lipid levels, thyroid function, vitamin B12 levels, serum iron levels, iron binding capacity, complete blood count, C-reactive protein (CRP) levels, and carotid intima-media thickness (CIMT) scores, which may comprise risk factors for atherosclerosis. When children in the migraine and control groups were compared in terms of those risk factors that are known to be related to vascular changes, no significant differences were found. However, a significant difference was detected in CIMT values (P < 0.05). Atherosclerosis commences in childhood, and there is a long period of time before the onset of ischemic symptoms occurs. In children with migraine, an evaluation of CIMT can be used as a non-invasive imaging modality to detect atherosclerosis, which develops in the context of chronic inflammation. In this way, measures to reduce morbidity and mortality, which may result from cardiovascular diseases, can be implemented.

Combination of two different homozygote mutations in Pompe disease.

Pompe disease (OMIM no 232300) is an autosomal recessive inherited metabolic disorder, caused by glycogen accumulation in the lysosome due to deficiency of the lysosomal acid 03B1-glucosidase enzyme. Here we report the case of an 8-month-old girl of consanguineous Turkish parents, who was diagnosed with the infantile form of Pompe disease. Two different uncommon homozygote mutations (c.32-13 T > G homozygote and c.1856G > A homozygote) were detected. The patient had a more progressive clinical course than expected. We emphasize the rare combination of genetic mutations in this Turkish family with Pompe disease.

Cardiac Function in Children After Kidney Transplant.

OBJECTIVES: Renal transplant improves echocardiographic markers of systolic and diastolic heart functions. The aim of this study was to evaluate the gradual changes in left and right ventricle functions in children and young adults before and after renal transplant. MATERIALS AND METHODS: Thirty kidney recipients of median age 13 years (range, 5-19 years) were included the study. Tissue Dopplerimaging from the septal and lateral mitral annulus ofthe left ventricle and free wall of the right ventricle was performed. Right ventricle systolic excursion velocity and tricuspid annular plane systolic excursion were calculated. Systolic and diastolic heart functions-which gained just before transplant, were compared with posttransplant early- term (6 months to 1 year) and long-term (longer than 1 year) functions. RESULTS: Twelve patients received deceased-donor and 18 patients received living donor renal transplant. Follow-up after transplant was 44 ± 23 months. Left ventricle ejection fractions were normal. The left ventricle, right ventricle, and interventricular septalTei indices were significantly higher before transplant.The posttransplantation early- and late-term results of left ventricle,right ventricle, and interventricular septal Tei indices were similar. Tricuspid annular plane systolic excursion levels were abnormal in 11 patients (36%), and right ventricle systolic excursion velocities were abnormal in 7 patients (23%) before transplant. All tricuspid annular plane systolic excursion levels and 94% ofright ventricle systolic excursion velocities were normal, but left ventricle Tei indices were higher in 8 (26%) and right ventricle Tei indices were higher in 14 patients (46%) at late-term follow-up. CONCLUSIONS: The systolic and diastolic dysfunctions of both ventricles appear to be highly prevalent in pediatric renal transplant recipients, especially soon after transplant, and were shown to usually decrease with time. Improvements in right ventricle dysfunction are slower, even in optimally treated posttransplant patients.

Reduced antioxidant capacity in children with iron deficiency and iron-deficiency anemia.

OBJECTIVE: This study aimed to assess the relationship between antioxidant enzymes such as glutathione peroxidase (GSH-Px), glutathione reductase (GSH-R), and paraoxonase (PON1) and carotid intima-media thickness (CIMT) and investigate susceptibility to atherosclerosis with decreasing antioxidant capacity in adolescent patients with iron deficiency (ID) and irondeficiency anemia (IDA). MATERIAL AND METHODS: Twenty-five patients with IDA (14.9±1.8 years; 14 female and 11 male patients), 25 patients with ID (14.1±2.24 years; 13 female and 12 male patients) and 21 healthy controls (14.04±2.01 years; 11 female and 10 male individuals) were included in the study. Serum PON1, GSH-Px, GSH-R, and CIMT were measured in all cases. After 3-month oral iron therapy for the group with IDA, the same measurements were performed again. RESULTS: CIMT was statistically significantly higher in patients with ID and IDA than in the control group (p<0.05). PON1, GSH-Px, and GSH-R activities decreased and were statistically significantly low in patients with IDA compared to the control group (p<0.05). Serum PON1 activity was statistically significantly lower in patients with ID than in the control group (p<0.05). Post-treatment PON1, GSH-Px, and GSH-R activities in patients with IDA got back to normal and were statistically significantly higher compared to pre-treatment values. CONCLUSIONS: Antioxidant capacity decreases in patients with IDA and ID, which causes atherosclerotic changes. Therefore, patients with iron deficiency must be treated without the development of iron-deficiency anemia.

Does abnormal ductus venosus pulsatility index at the first-trimester effect on adverse pregnancy outcomes?

AIM: The ductus venosus pulsatility index for veins (DV PIV) has become a popular marker of the first-trimester scan. The aim of this study is to search for any difference between groups with normal and abnormal DV PIV values in terms of adverse pregnancy outcomes. METHODS: We retrospectively evaluated 556 women whose first-trimester scan was performed. The ductus venosus pulsatility indices were examined at singleton pregnancies between 11 and 14 weeks of gestation. Patients were categorized as Group-I with normal DV PIV (DV PIV ≥ 0.73, ≤1.22) and as Group-II with abnormal DV PIV. Group-II was subgrouped as Group-IIA which composed of patients with DV PIV < 0.73 and as Group-IIB with DV PIV > 1.22. RESULTS: There were 451 subjects in Group-I and 105 subjects in Group-II (Group-IIA = 32 and Group-IIB = 73). The comparisons between major groups revealed a statistically significant increase about miscarriage (p = 0.002), stillbirth (p < 0.001), small for gestational age (p = 0.033), low birth weight (p < 0.001), fetal growth restriction (p = 0.048), and major congenital heart defect (p=<0.001) in Group-II. This difference is mainly due to Group-IIB. There is no difference in preterm delivery, preeclampsia and gestational diabetes between Group I and II. CONCLUSION: Routinely monitoring DIV PIV as a first-trimester screening should provide valuable information regarding adverse pregnancy outcomes such as miscarriage, stillbirth, small for gestational age, low birth weight, fetal growth restriction and major congenital heart defect.

Reversible cardiomyopathy-tachycardiomyopathy in children.

Arslan A, Erdogan I, Varan B, Yilmaz M, Özin MB, Tokel NK. Reversible cardiomyopathy-tachycardiomyopathy in children. Turk J Pediatr 2019; 61: 552-559. Tachycardia-induced cardiomyopathy (tachycardiomyopathy) is defined by the presence of a sustained tachycardia that results in left ventricular systolic dysfunction. Restoration of cardiac function is dependent on the control of tachyarrhythmias. We report a series including ten children with tachycardia-induced cardiomyopathy with different etiologies. The medical records of patients with tachycardiomyopathy who were managed in a Pediatric Cardiology Clinic between the years of 2014-2017 were reviewed retrospectively. Ten children (3 female, 7 male) were diagnosed with tachycardiomyopathy. The median age of the patients was 12 years (range: 4-15.8). Five had atrial tachycardia, two had ventricular tachycardia, the others had Mahaim fiber tachycardia, permanent junctional reciprocating tachycardia and atrioventricular reentrant tachycardia. Seven patients had catheter ablation and three patients who had previous heart surgery were treated with antiarrhythmic drugs. Median ejection fraction was 33% (range: 10-48), median left ventricle end-diastolic diameter was 55 mm (range: 30-78). All showed complete recovery with median ejection fraction 60% (range: 55- 78). Two patient with severe heart failure required extracorporeal membrane oxygenation support, one of them had ventricular assist device support but the device was removed after successful ablation. After two years this patient required permanent pacemaker implantation due to complete atrioventricular block. Tachycardia-induced cardiomyopathy is a rare and treatable cause of heart failure. Early recognition is critical, aggressive treatment aimed at controlling the arrhythmia results in symptom resolution and recovery of ventricular function.

Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism.

BACKGROUND: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography. METHODS: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy. RESULTS: Heart systolic function was normal. Mitral E velocities and mitral E/A ratios were significantly lower in patients at baseline. Tei indices were significantly higher in patients and a significant negative correlation was detected between free thyroxine levels and Tei indices.When early and late post-treatment echocardiography findings are compared, a non-significant difference was detected. CONCLUSIONS: Neonates with CH may exhibit systolic and diastolic heart dysfunction, which can be reversed by early L-T4 substitution treatment. The Tei index index should be measured in addition to conventional echocardiography.

Bone mineral density and bone metabolic markers' status in children with neurofibromatosis type 1.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1. METHODS: The study population included 33 pediatric NF1 patients (20 males and 13 females). Bone metabolic markers, such as total calcium, phosphorus, magnesium, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin D, the urinary calcium/creatine ratio were measured. In addition, BMD was measured at both the lumbar spine (LS) and the femoral neck in all the patients. RESULTS: All the patients had a low 25-OH vitamin D level, but it was significantly lower in the females than in the males (p<0.009). Overall, 18.2% of the patients had skeletal abnormalities. The lumbar Z-score was ≤2 in 21.2% of the patients, whereas the femoral neck Z-score was ≤2 in 9.1%. The urinary calcium/creatine ratio was significantly higher in the female than in the male patients (p<0.027). In all, six patients had skeletal abnormalities. CONCLUSIONS: It is widely known that bone mineral metabolism markers and BMD are significantly affected in NF1 patients; however, the present study did not identify any effective parameters that could be used to predict skeletal abnormalities, or diagnose early osteoporosis and osteopenia in pediatric NF1 patients.