Ali Rahmi Bakiler

Accuracy of Prenatal Diagnosis of Congenital Heart Disease with Fetal Echocardiography

Objective: To study the diagnostic value of fetal echocardiography in detecting congenital heart disease (CHD) during the prenatal period. Methods: One hundred and ninety-seven pregnant women with a high risk of prenatal CHD of their fetuses were included in this study. The fetal heart was scanned with echocardiography, performing complete evaluation of the cardiac system. The prenatal echocardiographic findings were correlated with postnatal echocardiography results or autopsy findings, if the pregnancy was terminated or the fetus died in utero. Results: 10 of the 197 fetuses showed CHD by fetal echocardiography, whereas postnatal echocardiography and postmortem examination revealed cardiac abnormalities in 21 patients. Of those, 7 (41.1%) had the most common referral indication, i.e., cardiac abnormality, found on routine ultrasound examination. Specificity and sensitivity of fetal echocardiography for cardiac abnormalities were found to be 98 and 42%, respectively. The positive predictive value of echocardiography was 90% and the negative predictive value 93%. Conclusions: We conclude that fetal echocardiography is a reliable tool for prenatal diagnosis in experienced hands. Pediatric cardiologists should be more aware while performing fetal echocardiography in patients referred by obstetricians for CHD.

Involuntary movements in infantile cobalamin deficiency appearing after treatment

Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.

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). Patients and methods. The study included 34 term newborns fulfilling the diagnostic criteria for HIE and staged according to Sarnat and Sarnat classification. To assess the myocardial involvement, electrocardiogram (ECG) and echocardiogram (Echo) were performed in the first 24–48 h of life. In addition, serum Troponin I and creatine kinase-myocardial band (CK-MB) were measured at delivery and postnatal day 3. Results. Of the 34 cases, 19 (55.9%) were stage in 1, 9 were in (26.4%) stage 2 and 6 (17.6%) were in stage 3 HIE. Nine (26.4%) patients died of the disease. Thirteen patients (38.2%) showed ECG findings related to perinatal asphyxia. Only one patient had mild Echo changes. Higher Troponin I level was a significant predictor of mortality, whereas CK-MB did not show any significant predicting value. Troponin I test showed 33% sensitivity and 80% specificity in predicting mortality. In addition, the sensitivity and specificity of ECG as a predictor of mortality were 77 and 76%, respectively. Conclusion. This study highlights the significance of monitoring cardiac functions in newborns with HIE. ECG changes and serum Troponin I level at 72 h after birth are likely to have significant predictive value in the assessment of mortality in HIE. Further studies will provide additional data for the long-term prognostic value of cardiac functions in this disorder.

No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome.

Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare, well-defined clinical entity. Recently, this disease was elucidated to link mutations in the SLC2A2 gene in many ethnic groups, indicating that FBS is a single gene disease. We report here an 8-month-old Turkish girl who developed characteristic findings of FBS. However, no mutation was detected in the protein-coding region of the SLC2A2 gene. Therefore, we propose that further molecular analysis is needed to determine whether other genes are involved in FBS.

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 ± 5.0 months) who presented with respiratory distress underwent physical examination, plasma BNP measurement, and echocardiography within 24 hours after admission. Nineteen (28%) patients had congenital heart disease. The control group was consisted of 30 healthy infants. RESULTS Although mean plasma BNP levels were 118.9 ± 219.5 pg/mL in patients with isolated bronchiolitis (n = 49), it was 841.2 ± 1475.8 pg/mL in patients with congenital heart disease (n = 19). Plasma BNP levels were significantly higher in infants with congenital heart disease (P = .001). CONCLUSION It was shown that plasma BNP levels were affected much more in cardiac disease rather than lung disease. Among infants with respiratory distress, plasma BNP measurements can differentiate congenital heart disease and lung disease and can be used to monitor the effects of treatment for infants with heart failure. RESPONSE TO REVIEWERS The comments were taken for consideration. The patient groups control BNP levels were attached to the results. As it was a clinical study and multiple factors (respiratory score, respiratory rate, treatment, etc) may effect on BNP levels, the tables could not be decreased to 1 table.

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. Eighty-three infants with positive urine culture results obtained by bladder catheterization were subjected to SPA. Of these, only 24 (28.9%) and 20 (24%) yielded positive urine culture and abnormal urinalysis data, respectively. Samples obtained via catheterization had a high false-positive rate (71.1%). The sensitivity and specificity of urinalysis were 66.7% (95% CI, 44.68% to 84.33%) and 93.22% (95% CI, 83.53% to 98.08%), respectively. In infants younger than 12 months, SPA is the best method to avoid bacterial contamination, showing better results than transurethral catheterization.

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 infants 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. For this reason, it can be underdiagnosed, if it is not considered in the differential diagnosis. When the information provided from the parents is inconsistent and contradictory with the clinical picture of the patient, this form of abuse must be suspected and retinal hemorrhages should be searched. In this article, two patients who were admitted to our emergency department and diagnosed with physical child abuse are reported. One of these patients had a history of minor head trauma after falling down from the sofa and the other one had a history of breathlessness and loss of consciousness as a result of excessive crying.

Adolescent mental health, attachment characteristics, and unexplained chest pain: a case–control study

ABSTRACT OBJECTIVES: Psychological factors may be the underlying causes in unexplained chest pain (UCP). Chest pain symptom may influence the emotional status and peer relationships of the children and adolescents negatively. However, the number of studies focussing on the aetiology and consequences of the adolescent UCP are still limited. The aim of this study is to investigate the relationships among psychological problems, attachment characteristics, and the UCP in a group of adolescents. METHODS: Seventy-three adolescents with UCP and seventy-one healthy adolescents were included in the study. The adolescents completed the short form of Inventory of Parent and Peer Attachment (s-IPPA), and Strengths and Difficulties Questionnaire (SDQ), while their parents completed the parental form of the SDQ. RESULTS: Contrary to expectations, there was no significant interaction between total parental attachment levels and UCP in the adolescents with UCP. There were significant correlations between the attachment problems and total difficulties score of SDQ. Binary logistic regression analysis revealed that higher emotional and conduct problems and lower pro-social characteristics predict the UCP in adolescents, significantly. CONCLUSIONS: The results suggested that emotional/behavioural problems and lower pro-social behaviour scores are associated with UCP. However, further studies are needed for better understanding about the relationships between the UCP and attachment quality.

Anxiety, depression, suicidal ideation, and stressful life events in non-cardiac adolescent chest pain: a comparative study about the hidden part of the iceberg

Chest pain in adolescents is rarely associated with cardiac disease. Adolescents with medically unexplained chest pain usually have high levels of anxiety and depression. Psychological stress may trigger non-cardiac chest pain. This study evaluated risk factors that particularly characterise adolescence, such as major stressful events, in a clinical population. The present study was conducted on 100 adolescents with non-cardiac chest pain and 76 control subjects. Stressful life events were assessed by interviewing patients using a 36-item checklist, along with the Childrens Depression Inventory and Spielbergers State-Trait Anxiety Inventory for children, in both groups. Certain stressful life events, suicidal thoughts, depression, and anxiety were more commonly observed in adolescents with non-cardiac chest pain compared with the control group. Moreover, binary logistic regression analysis showed that trouble with bullies, school-related problems, and depression may trigger non-cardiac chest pain in adolescents. Non-cardiac chest pain on the surface may point to the underlying psychosocial health problems such as depression, suicidal ideas, or important life events such as academic difficulties or trouble with bullies. The need for a psychosocial evaluation that includes assessment of negative life events and a better management have been discussed in light of the results.

Assessment of hemodynamic changes in preterm infants with respiratory distress syndrome

Although the cardiac effects of invasive and noninvasive ventilation have previously been investigated separately (1), we aimed to investigate the right and left ventricular systolic and diastolic dimensions and functions of preterm infants who were treated with surfactant and who received mechanical ventilation support due to respiratory distress syndrome (RDS). Preterm infants with birth weight of ≤1500 g and/or born at ≤32 gestational weeks within the first 6 h of life and requiring mechanical ventilation for at least the first 24 h of life due to RDS were considered. The first echocardiographic evaluation of the infants was during invasive ventilation. The second echocardiographic evaluation was in nasal continuous positive airway pressure (NCPAP) 24 h after infants were extubated, and the positive end-expiratory pressure (PEEP) was 6 cmH20. Forty infants were studied (22 males and 18 females); mean gestational age was 27.2±2.1 (mean±SD) weeks,and mean birth weight was 1050±270 (mean±SD) g. A significant decrease in systolic blood pressure was observed in infants with patent ductus arteriosus (PDA), but no change was observed in left ventricular sizes and functions. In addition, no significant change was observed in right ventricular functions and cardiac output (CO) and fractional shortening values. For this reason, PDA is thought to have no effect on ventricular functions. In preterm infants, incorrect measurements may be obtained due to paradoxical septal wall movements and left ventricular distortion due to right ventricular dominance. In healthy infants, right ventricular cavity dimension at end-diastole (RVEDd) and right ventricular cavity dimension at end-systole (RVESd) decrease in the first 2 days of life, and this is similar for ventilated infants (2). We found that RVEDd, RVESd, and CO values of infants followed up in mechanical ventilators were lower than those obtained in infants after taking them to NCPAP. This difference was due to a decrease in right ventricular function, which was in the first 2 days of life, and due to a negative effect on the right ventricular function, which was caused by severe RDS (3). All infants were monitored with the same PEEP value, and improvements were determined in the hemodynamic and echocardiographic evaluations during noninvasive ventilation. This situation may be related in the recovery of lung problems rather than in the PEEP effect. We did not find any difference in hemodynamic parameters in relation to PDA. We noticed that PDA was associated with an increase in left atrial diameter and decrease in aortic root diameter while on invasive and noninvasive ventilation. We hypothesized that PDA may not be clinically characterized in the first days after delivery as the flow through it is generally not turbulent, wherein, as no physical sign is audible, it was not statistically significant. We believe that the treatment of RDS rather than of PDA in the first days of life is better based on hemodynamic and echocardiographic findings. Mechanical ventilation reduces the right and left ventricular preload and improves the left ventricular afterload (4). Mechanical ventilation should be used with the most optimal methods possible and the lowest mean airway pressure value for preterm infants in the presence of RDS. Preterm infants should be extubated as soon as possible and should be tried to be made with noninvasive ventilation.