The analysis of the effects of acute rheumatic fever in childhood on cardiac disease with data mining.

BACKGROUND: Acute rheumatic fever (ARF) is an important disease that is frequently seen in Turkey, it is necessary to develop solutions to cure the disease. It is believed that new data analysis methods may be applied to this disease, and this may be useful to discover previously unrecognized patterns. Data mining of existing records and data repositories may improve knowledge on the diagnosis and management of ARF. In this regard, we planned to make a contribution to the development of new solutions by approaching the problem from a different standpoint. OBJECTIVES: The aim of this study is to analyse the effects of ARF undergone during childhood on the basis of cardiac diseases by using data mining methods. MATERIALS AND METHODS: Classification methods of data mining were used, and experiments were conducted on five algorithms. The records of the patients diagnosed with ARF were analysed by setting models with naive Bayes classifier, decision trees (CART, C4.5, C5.0, C5.0 boosted) and random forest algorithms. The performances of the algorithms that were derived were then compared. Among model performance evaluation techniques, the hold-out, cross-validation and bootstrap methods were tested in diverse ways in an applied manner. Within the scope of the research, the dataset comprising records of 297 patients was utilised in cooperation with Istanbul Medeniyet University Göztepe Training and Research Hospital's Pediatric Cardiology Clinic (Istanbul Medeniyet Üniversitesi Göztepe Egitim ve Arastirma Hastanesi Çocuk Kardiyolojisi Klinigi). Data analysis was carried out with the data of the remaining 201 patients following pre-processing. RESULTS: The results that were obtained from different algorithms were compared based on the model performance evaluation criteria. The best result was shown under the CART model by using the hold-out technique (80% training, 20% testing). According to this model, the importance values of the predictive attributes were listed, and it was found that the "teleNormal" and "cardiomegaly" attributes were not required for ARF diagnosis and treatment. In compliance with this result, it was thought that it should not be necessary for patients have a chest x-ray which is needed for diagnosis of "teleNormal" and "cardiomegaly". This will help reduce costs and thus contribute to the health economy while preventing patients from having unnecessary x-rays. DISCUSSION AND CONCLUSION: The results of this study showed that data mining techniques may be used to analyse diseases such as ARF. The important attributes that affect the disease were obtained in accordance with the results. The results of the best model (CART) may be broadened in numerous ways and provide information for both experienced and inexperienced physicians. This study is considered to be significant as it helps data mining methods become more prevalently used for data analysis in fields of medicine and healthcare.

Fever-induced Brugada syndrome in a 9-year-old boy presenting with acute chest pain.

Besli GE, Yildirim S, Akalin I, Ayhan YI, Kisioglu M, Berdeli A. Fever-induced Brugada syndrome in a 9-year-old boy presenting with acute chest pain. Turk J Pediatr 2018; 60: 571-575. Brugada syndrome, an arrhythmogenic disease, occurs due to mutations involving cardiac sodium channels. It is characterized by persistent or transient ST-segment elevation in the right precordial electrocardiogram leads that could be unmasked by several circumstances, with fever particularly. Molecular and cellular mechanisms leading to Brugada syndrome have not been completely elucidated. Mutations of the SCN5A gene encoding the pore-forming α-subunit of the cardiac sodium channel protein have been attributed in the molecular diagnosis. Although this syndrome is well-known in adults, it is less frequently reported in infants and children. We describe a 9-year-old Turkish boy with a family history of sudden cardiac death, who presented with chest pain and fever-induced expression of the Brugada syndrome phenotype that might be associated with a mutation in SCN5A gene.

Changes in platelet indices in children with bicuspid aortic valve.

Mean platelet volume (MPV) and platelet distribution width (PDW) can help diagnose cardiovascular pathologies. In this study, we aimed to demonstrate the changes in platelet (PLT) indices in children diagnosed with bicuspid aortic valve (BAV) with mild stenosis and without stenosis to compare patients with mild stenosis with those without stenosis. A total of 73 children diagnosed with BAV (30 patients with mild stenosis and 43 without stenosis) with a mean age 9.73 ± 5.01 years and a control group were included in the study. Mean MPV value was significantly lower in the control group compared with patients with BAV with mild stenosis and patients without stenosis (p = 0.001, and p < 0.01, respectively). MPV was significantly greater in patients with mild stenosis than in patients without stenosis (p = 0.049 and p < 0.05, respectively). Patients with mild stenosis had a significantly greater mean PDW value compared with patients without stenosis and the control group (p = 0.024 and p < 0.05, respectively). There was no significant difference between patients without stenosis and the control group with respect to mean PDW value (p > 0.05). In conclusion, the results of this study demonsrate that children with BAV either with or without stenosis have increased MPV; the ones with mild stenosis have even greater values than the ones without stenosis. It emphasizes the risk of thrombosis in children with BAV.

Applying Manual Pressure before Benzathine Penicillin Injection for Rheumatic Fever Prophylaxis Reduces Pain in Children.

The purpose of this study was to evaluate the efficacy of applying manual pressure before benzathine penicillin injection and compare it with the standard injection technique in terms of reducing discomfort in children with rheumatic heart disease grouped by age and gender. This was a single-blind, randomized, crossover study. Fifty-one patients aged 7.1-19.9 years were recruited for this study carried out in the pediatric cardiology outpatient clinic. Twenty-nine were girls (56.9%). All subjects received an intramuscular injection of benzathine penicillin with manual pressure to one buttock or with the standard technique to the other buttock at 3-week intervals. The two techniques were used randomly. The subjects were blinded to the injection technique and a visual analogue scale was used after the procedure. Findings demonstrate that children experienced significantly less pain when they received injections with manual pressure (1.3 ± 0.9) compared with the standard injection (4.4 ± 1.6) technique. The perceived injection pain was negatively related to the age of the children in both techniques. Compared with boys, girls felt more pain, but the difference between each technique group according to gender was negligible. The application of manual pressure reduces pain in children under the stress of repeated intramuscular injections, which supports the suggestion that it should be used in routine practice. Manual pressure to the injection site is a simple, pain-reducing technique. Implementing this technique in routine practice may also promote adherence to the prophylaxis regimen, especially in children.

Diagnostic ultrasound features and outcome of restrictive foramen ovale in fetuses with structurally normal hearts.

Intrauterine foramen ovale (FO) restriction in association with congenital heart disease (CHD) carries a poor prognosis. However, in the absence of CHD, the clinical importance of restrictive FO in the fetus is not well understood. We evaluated the antenatal prevalence, clinical presentation, diagnostic ultrasound features, and outcome of restrictive FO in fetuses without CHD. We reviewed the echocardiographic and clinical records of 23 fetuses diagnosed with a restrictive FO and structurally normal heart between 2001 and 2012. The atrial septum, dimensions of cardiac structures, left and right cardiac output and Doppler interrogation of cardiac flows were examined. The clinical outcomes of all fetuses with restrictive FO were analysed. Restrictive FO was identified in 23 of 1,682 (1.4%) fetuses with no CHD. Enlarged right heart structures (100%), hypermobile or redundant primum atrial septum (91%), increased right-to-left ventricular cardiac output ratio (91%), and posteriorly angulated ductus arteriosus (68%) were the most common echocardiographic findings associated with this rare phenomenon. Additional noncardiac systemic abnormalities were identified in 13 (56%) babies. Seven (30%) neonates developed persistent pulmonary hypertension, and 7 infants died. Antenatal restrictive FO is an underrecognised entity despite being a common cause of right heart dilatation in the fetus. In the absence of CHD, restrictive FO is well tolerated antenatally, but its frequent association with noncardiac abnormalities and pulmonary hypertension in the neonate are noteworthy.

Frequency of pericardial effusion in childhood acute lymphoblastic leukemia and clinical features of these patients.

In this study, we aimed to determine the frequency of pericardial effusion (PE) in children diagnosed with acute lymphoblastic leukemia (ALL). Clinical features of patients with effusion were evaluated. For this purpose, we reviewed the medical records of ALL patients who had pretherapy echocardiograms. A total of 90 patients aged between 1.8 and 16.3 years were analyzed retrospectively. In 23 of 90 (25.6%) patients, PE was detected at initial diagnosis. The age of patients with PE ranged between 1.8 and 14.8 years (mean 5.05 ± 3.77 years). The female/male ratio was 9/14. Six (26.1%) patients were T-lineage and 17 (73.9%) were B-lineage ALL. Nine (39%) patients were in standard risk group, 13 (57%) were in median risk group, 1 (4%) patient was in high-risk group. Mean initial white blood cell count was 40.756 ± 38.653/mm(3) (range 23.000-130.000/mm(3)). Mean initial hemoglobin count was 7.3 ± 1.39 gr/dL (range 5.5-10.1 gr/dL), mean initial platelet count was 35.200 ± 26.300/mm(3) (range 4.000-118.000 mm(3)). Size of effusions was between 2 and 6 mm (mean size 3.3 ± 1.8 mm). All patients had normal left ventricular systolic function. In 87% of patients, effusions disappeared in the first 7 days and, in 13%, disappeared between 8th and 15th days of chemotherapy. None of the patients required pericardiocentesis. Cardiac dysfunction did not occur among any of these patients during chemotherapy. In conclusion, PE is not frequent in childhood ALL. It usually does not cause cardiac impairment. It responds to treatment of leukemia.

The forgotten chamber: right-ventricular functions in juvenile idiopathic arthritis.

Cardiac involvement, such as pericarditis, myocarditis, and endocarditis, is seen in juvenile idiopathic arthritis. Although there have been some reports about right-ventricular systolic and diastolic functions of adults with rheumatoid arthritis and left-ventricular systolic and diastolic functions of children with JIA, there have been no studies about RV functions of children with JIA. The aim of this study was to determine RV functions in children with JIA. We performed conventional echocardiography and tissue Doppler imaging measurements of the right ventricle of patients with JIA. All patients were in sinus rhythm at the time of examination without overt LV heart failure and with normal LV ejection fraction. Fifty-five children with the diagnosis of JIA and 33 healthy control subjects were included in the study. Peak systolic, early, and late diastolic tricuspid annular velocities were significantly decreased in JIA patients compared with healthy controls (p < 0.05). Isovolumic accelaration (IVA), as a measure of myocardial acceleration during isovolumic contraction of the right ventricle, was also significantly lower in JIA patients than in healthy controls (p < 0.05). RV systolic and diastolic functions, in addition to the previously shown LV functions, are affected in JIA patients. IVA decreases in JIA patients and may be used as an alternative, noninvasive parameter for the assessment of RV systolic function in children with JIA.

Does hypereosinophilic syndrome precede common B acute lymphoblastic leukaemia in childhood? A case report.

Hypereosinophilic syndrome (HES) and the association of hypereosinophilia with acute lymphoblastic leukaemia (ALL) are both rare in children. Some acute myelogenous leukaemias can present with eosinophilia, but the relationship between HES and ALL is not well known and is rarer than the relationship between HES and acute myelogenous leukaemia. Patients are diagnosed with HES when no cause is found to explain the eosinophilia leading to end organ damage. For this reason, it is recommended that patients presenting with hypereosinophilia be carefully assessed to exclude any malignant clonal proliferation. HES may present with severe clinical manifestations such as high leucocyte count, anaemia, thrombocytopaenia, hepatosplenomegaly or cardiac and neurological involvement, all of which are primarily features of myeloproliferative disorders. Some patients with HES can develop chronic eosinophilic leukaemia. Successful treatment of HES with agents used in chronic myeloid leukaemia supports the idea that HES can be a chronic myeloid disorder. There are few cases reporting an association between ALL and hypereosinophilia that precedes or is concomitant with ALL. Here we report the case of a 14-year-old girl who developed common B ALL 7 months after diagnosis and treatment of HES. Interestingly, eosinophilia was not concomitant with the diagnosis of ALL.

Kocher-Debré-Sémélaigne syndrome with pericardial effusion.

Kocher-Debré-Sémélaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and hypothyroidism in children. We report an 11-year-old female child with hypothyroidism and limb muscle pseudohypertrophy with pericardial effusion. The patient presented with hypertrichosis only. She had dull facies and marked hypertrophy of both calves and cervical muscles. Pericardial effusion was confirmed on investigations. Muscle pseudohypertrophy was a striking feature, and hypothyroidism was confirmed on thyroid studies. Pericardial effusion is known in hypothyroidism but has been very rarely reported with KDSS.

A case of early diagnosed carnitine deficiency presenting with respiratory symptoms.

INTRODUCTION: Carnitine deficiency is an autosomal recessively inherited disease characterized by a low carnitine concentration in plasma and tissues. Primary carnitine deficiency (PCD) is caused by a deficiency in the plasma membrane carnitine transporter, with urinary carnitine wasting causing systemic carnitine depletion. The most common presentation of PCD is hypoketotic hypoglycemic encephalopathy. Cardiomyopathy can also be seen. CASE REPORT: A 9-month-old girl was admitted to our clinic with wheezing, respiratory distress and nighttime cough. She was pale, expirium was prolonged, breath sounds were coarse bilaterally and were increased in the right hemithorax. RESULTS: She had hypochromic microcytic anemia and the serum CPK level was elevated. Cardiothoracic index was increased (0.62). In the chest X-ray there was hyperaeration especially in the upper regions of the left lung, and paracardiac infiltration in the right lung. The echocardiogram showed dilated cardiomyopathy. In pulmonary perfusion scintigraphy, perfusion of the right lung was 26% and of the left lung 74%. Cardiomegaly and dilatation in main the pulmonary artery was detected in the MR angiogram. Plasma carnitine and acylcarnitine levels were found to be significantly low. Fat accumulation in myocytes and rare atrophic fibers were detected in a muscle biopsy. Oral carnitine supplementation was started at a dose of 100 mg/kg. All the symptoms and findings regressed within a short period of time. DISCUSSION: This case was presented to emphasize that carnitine deficiency can present with respiratory tract symptoms like wheezing and recurrent respiratory tract infections. Although PCD usually presents with hypoketotic hypoglycemia in infants, it also has to be suspected in the etiology of dilated cardiomyopathy. Treatment is very easy and lifesaving once the correct diagnosis is made, and the prognosis is excellent with lifelong carnitine supplementation.

Mitral valve repair in a patient with Ter Haar Syndrome.

Ter Haar Syndrome is one of the most deteriorating disorders defined in the medical era. Up to date only ten patients were reported. We present a living patient with Ter Haar Syndrome who has undergone successful mitral valve repair.