Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review.

There is still no evidence-based guideline and consensus on the treatment Sydenham's Chorea (SC). The first-line medication preference of specialists depends on personal experience and is variable. In this study, we evaluate the treatment results of pediatric patients who were treated with valproic acid (VPA). The medical records of 17 patients diagnosed with SC were reviewed retrospectively. The mean time to clinical improvement was found as approximately 5 days, the mean duration of remission as 13.60 ± 3.94 weeks and the mean duration of medication use was found as 17.96 ± 3.81 weeks. No side effects were observed in any of the patients and relapse occurred in 2 patients. A positive correlation was found between the initial C-reactive protein (CRP) level and the duration of medication use. Until evidence-based guidelines are established, VPA can be used as an effective, safe, and inexpensive first-line treatment option, especially in pediatric patients.

Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.

BACKGROUND: Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal period after the neonate is fed with milk that contains galactose. Most patients are presented with jaundice, hepatomegaly, hypoglycemia and cataracts. OBJECTIVE: We aimed to document the clinical, molecular characteristics, regional estimated incidence and time of diagnosis in newborn with CG. MATERIALS AND METHOD: The data of 63 newborn with CG who were diagnosed and followed up between January 2011 and January 2018 were analyzed retrospectively. RESULTS: During the study period, 63 (33 boys and 30 girls) newborns were diagnosed with CG. The median gestational age was 39 weeks (33-42). Major presenting symptoms were jaundice 90.5% and cataract 41.2%. The mean age at first symptom was 12 ± 7.4 days while the mean age at diagnosis was 18.9 ± 10.6 days. Nearly half of the patients (55.5%) were diagnosed later than the postnatal 15th day. Genetic analysis was performed on 56 patients and homozygous Q188R mutation was found in 92.8%. There were signs of sepsis in 33.3% of the cases. Six patients died due to sepsis. There was consanguinity in 84.1% of the parents and regional estimated incidence was calculated as 1 in 6103 live births. CONCLUSION: Q188R mutation was found in 92.8% of our cases. The regional estimated incidence was found as 1 in 6103 live births. Our study strongly supports that galactosemia should be included in the national newborn screening program.

A Better Way for Ductal Stenting in Patients with Duct-Dependent Pulmonary Flow and Vertical and Tortuous Patent Ductus Arteriosus.

BACKGROUND: In this study, we aimed to compare the femoral route and the carotid artery route in terms of procedural success of ductal stent implantation in patients with ductdependent pulmonary blood flow. METHODS: The study included 51 patients with duct-dependent pulmonary circulation who underwent ductal stent implantation upon their admission to our clinic between July 2017 and March 2021. In total, 23 patients (group I) underwent ductal stent implantation via the femoral route, while the remaining 28 (group II) underwent the procedure via the carotid artery. The groups were compared in terms of procedural success, time, post-procedural blood pH, lactate levels, and complications. RESULTS: Duct morphology was observed in group 1 as follows: type 1 in 12 patients, type 3 in 8, type 2 in 2, and type 6 in 1 patient. In group 2, 26 patients had type 3, 1 had type 2, and 1 had type 6. The tortuosity index of the patients in group 1 was 1 in 8 patients, 2 in 8 patients, and 3 in 7 patients, while in group 2, it was 1 in 5 patients, 2 in 15 patients, and 3 in 8 patients. The success rate was 69.6% (16/26) in group I and 93.5% (29/31) in group II (P=.030). The cumulative success rate was 88.2% (45/51). The procedural durations were 78.2 ± 34.1 and 52.1 ± 22.0 minutes in group I and group II, respectively (P=.002). The mean blood pH values upon the completion of the procedure were 7.26 ± 0.1 and 7.33 ± 0.0 in group I and group II, respectively (P=.038). The mean post-procedural lactate levels were 2.8 mmol/L and 2.3 mmol/L in group I and group II, respectively (P=.038). The 2 groups did not show any differences in terms of procedural complications. CONCLUSION: The carotid artery route can be preferred, especially in vertical and tortuous ductus arteriosus, as it is associated with a high success rate and a short procedural time, as well as a better metabolic condition after the procedure.

Hepatitis A Vaccine Effectiveness and Seropositivity Among 1- to 18-Year-Old Children: 10-Year Results.

OBJECTIVE: The aim of the study was to examine and compare hepatitis A seropositivity in children. MATERIALS AND METHODS: The study included patients aged 0-18 years who presented to our hospital and were examined for hepatitis A virus serology between 2009 and 2018. Patients were separated into 2 groups: those who presented before (group I) or after (group II) September 2012, when the mandatory hepatitis A vaccination program came into effect in Turkey. RESULTS: In total, 34 809 patients were evaluated: 20 111 (57.8%) males and 14 698 (42.2%) females, with a mean age of 8.2 ± 5.3 years. Anti-hepatitis A virus immunoglobulin M positivity was observed in 3.3% of patients, most often in January and from January to April when the region experiences more rainfall. Anti-hepatitis A virus immunoglobulin M positivity decreased dramatically in group II compared to group I (0.26% vs. 7.42%, P < .001). Anti-hepatitis A virus immunoglobulin G positivity was observed in 53.8% of all patients. A statistically significant increase was determined in anti-hepatitis A virus immunoglobulin G seropositivity in group II compared to group I (81.9% vs. 42.1%, P < .001). CONCLUSION: Hepatitis A virus infection in Turkey decreased dramatically following improvements to infrastructure and sanitation and implementation of the vaccination program. This study is the most comprehensive report of hepatitis A seropositivity in Turkey to date.

Is arterial switch operation possible with neonatology-focused intensive care unit modality.

BACKGROUND: In this study, we aimed to examine the feasibility of arterial switch operation and its perioperative management with neonatology-focused intensive care modality in a region of Turkey where the birth rate and the number of asylum seekers who had to leave their country due to regional conflicts are high. METHODS: Between December 2017 and June 2020, a total of 57 patients (48 males, 9 females; median age: 12.2 days; range, 2 to 50 days) who were diagnosed with transposition of the great arteries in our clinic and underwent arterial switch operation were retrospectively analyzed. All patients were followed by the neonatologist in the neonatal intensive care unit during the preoperative and postoperative period. RESULTS: Thirty-eight (66.7%) patients had intact ventricular septum, 16 (28.1%) had ventricular septal defect, two (3.5%) had coarctation of the aorta, and one (1.7%) had Taussig-Bing anomaly. Coronary artery anomaly was present in 14 (24.5%) patients. The most common complications in the intensive care unit were renal failure requiring peritoneal dialysis in seven (12.3%) patients, supraventricular tachyarrhythmia in six (10.5%) patients, and eight (14%) patients left their chests open. The median length of stay in intensive care unit was 13.8 (range, 9 to 25) days and the median length of hospital stay was 24.5 (range, 16 to 47) days. The overall mortality rate for all patients was 12.3% (n=7). The median follow-up was 8.2 months. A pulmonary valve peak Doppler gradient of ≥36 mmHg was detected in five patients (8.7%) who were followed, and these patients were monitored by providing medical treatment. None of the patients needed reoperation or reintervention. CONCLUSION: We believe that arterial switch operation, one of the complex neonatal cardiac surgery, can be performed with an acceptable mortality and morbidity rate with the use of neonatology-focused intensive care modality, which is supported by pediatric cardiology and pediatric cardiac surgery.

Evaluation of Term Newborn Patients With Hypernatremic Dehydration.

AIM: We aimed to evaluate the demographic, clinical, and laboratory findings and the management of newborns with hypernatremic dehydration (HDH). MATERIALS AND METHODS: A total of 85 term newborns with serum sodium (Na) levels higher than 145 mEq/L who admitted to our hospital between January 2011 and December 2018 were included in this study. RESULTS: Among all cases, 54.1% were female infants with the mean birth weight, weight loss ratio, and median age at diagnosis of 3095 ± 540 g, 13.6 ± 10%, and 8 (2-24) days, respectively. The most common presenting complaints were breastfeeding difficulties (90.5%), fever (63.5%), decreased urination (43.5%), jaundice (22.3%), and convulsion (15.3%). The mean sodium and potassium, and median blood urea and creatinine levels on admission were 167.9 ± 13.4 mEq/L, 5.4 ± 2.8 mmol/L, 213 mg/dL (11-476 mg/dL), and 2.4 mg/dL (0.52-9.96 mg/dL), respectively. There was metabolic acidosis in 67% and acute renal failure in 74.4% of patients, while peritoneal dialysis was performed in 12 of them. There was a positive correlation between weight loss ratio and admission age, serum urea, and creatinine levels; there was a negative correlation between weight loss and blood pH. Eight patients died (9.4%). CONCLUSIONS: In our study, serum urea, creatinine, potassium, metabolic acidosis levels, convulsion, and dialysis requirements at the time of admission of the newborns with HDH were found to be higher in those who died compared to those who survived. Convulsion was a presenting complaint, and it was also observed during the treatment.

Cardiac evaluation in children with malnutrition.

AIM: The main purpose of this study was to identify myocardial changes in malnourished children. MATERIAL AND METHODS: This prospective study included 47 patients with malnutrition and 44 healthy controls. The subjects who had malnutrition were classified according to the method of Gomez and Waterlow. Electrocardiographic and echocardiographic examinations, 24-h Holter monitoring, and biochemical assessments were performed in all subjects. RESULTS: The malnutrition group included 20 (42.5%) males, and the control group included 19 (43.1%) males (p<0.05). There was no difference between the malnutrition and control groups with regard to mean age (69.4±57.3 months and 68.9±48.2 months, respectively, p=0.5). Although the left ventricular mass was lower in the patient group compared with the control group, the left ventricular mass index was not different (42.3±24.5 g, 53.4±23.9 g, p=0.049 and 60.7±13.3 g/m2, 61.9±12.1 g/m2, p=0.67, respectively). The left ventricular ejection fraction and fractional shortening were lower in the patient group compared with the control group (66.2±5.3%, 69.2±4.07%, p=0.04 and 35.4±4.2%, 37.9±3.4%, p=0.03, respectively). The myocardial performance index was higher in the patient group (0.45±0.09, 0.36±0.05, respectively, p=0.001). The deterioration of cardiac functions was associated with the severity and duration of malnutrition. Troponin concentrations were not elevated in any patients. The corrected QT dispersion was significantly higher in patients with malnutrition (47.9±16.8, 32.9±10.6, respectively, p=0.001). Complex ventricular arrhythmias were not noted in any patients. CONCLUSION: The malnourished children in this study exhibited impairment in the functions of cardiac contraction including mainly systolic functions and in cardiac conduction system. Cardiac morbidity and mortality can be prevented by early detection and treatment of malnutrition in these patients.

Early neurological complications in children with classical galactosemia and p.gln188arg mutation.

BACKGROUND: Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG. METHODS: We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017. We included those who exhibited CG and p.gln188arg homozygous mutation without concomitant disease and who had undergone detailed neurological examination, brain magnetic resonance imaging (MRI), and Denver II developmental testing. RESULTS: The mean ages at the time of the most recent neurological examination and Denver II testing were 48.5 ±â€¯28.5 months and 34.4 ±â€¯18.2 months, respectively. Developmental delay was defined as developmental age ≥ 20% lower than chronological age. The results were normal in 25 patients and delayed ≥ 20% in least in one domain, primarily in language development, in 21 patients. Brain MRI was abnormal in 22 patients. CONCLUSIONS: This analysis of the youngest children with the same genetic mutation reported thus far showed that, despite treatment, developmental delays and abnormalities on brain MRI may begin at an early age.

Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism.

Several recent studies have reported that toxic metabolites accumulated in the body as a product of inborn errors of metabolism (IEM) are eliminated more rapidly with continuous venovenous hemodiafiltration (CVVHDF) than with peritoneal dialysis (PD). However, there is still uncertainty about the impacts of dialysis modalities on the short-term outcome. Here, it was aimed to investigate the effects of dialysis modalities on the short-term outcome. This retrospective study included 40 newborn infants who underwent PD (29 patients) or CVVHDF (11 patients) due to inborn errors of metabolism at a tertiary centre, between June 2013 and March 2018. The outcomes and the potential effects of the dialysis modality were evaluated. Of 40 patients, 21 were urea cycle defect, 14 were organic academia, and 5 were maple syrup urine disease. The median 50% reduction time of toxic metabolites were shorter in patients treated with CVVHDF (p < 0.05). Catheter blockage was the most common complication observed in PD group (24.1%), whereas in CVVHDF group hypotension and filter blockage were more common. There was no significant difference in mortality between dialysis groups (38% vs. 45.4%, p > 0.05). In patients with hyperammonaemia, duration of plasma ammonia > 200 µg/dL was the most important factor influencing mortality (OR 1.05, CI 1.01-1.09, p = 0.007).Conclusion: This study showed that CVVHDF is more efficient than PD to rapidly eliminate toxic metabolites caused by IEM in newborn infants, but not in improving survival. What is Known: •Toxic metabolites are eliminated more rapidly with CVVHDF than with PD. •Higher complication rates were reported with rigid peritoneal catheters in PD and catheter blockage in CVVHDF. What is New: •Prolonged duration of plasma ammonia levels above a safe limit (200 µg/dL) was associated with increased mortality. •Lower catheter-related complication rates may have been associated with the use of Tenckhoff catheters in PD and the use of right internal jugular vein in CVVHDF.

Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia.

AIM: Newborns with inborn errors of metabolism can present with hyperammonaemic coma. In this study, we evaluated the effect of peritoneal dialysis on plasma ammonium levels and on the short-term outcome in neonatal patients with urea cycle defects and organic acidaemia. METHODS: Data from infants with hyperammonaemia due to urea cycle defects or organic acidaemia treated with dialysis were collected and retrospectively analyzed. The results of patient groups (group I, survived; and group II, died) were compared. RESULTS: Fourteen neonates were enrolled in this study. In group I, plasma ammonium levels before dialysis were median (IQR) 1652 µg/dL (1165-2098 µg/dL); in group II, they were 1289 µg/dL (1070-5550 µg/dL). There was no statistically significant difference. Urea cycle defects were diagnosed in eight, and organic acidaemia in six patients. The duration of a blood ammonia level >200 µg/dL was longer in group II (P = 0.04). A <60.8% decline in the ammonia level from the beginning of dialysis to the 12th hour of dialysis carried a 3.33-fold higher risk of mortality, when compared with a greater decline. Five patients with urea cycle defects, and one with organic acidaemia, died. The mortality risk was 8.33-fold (95% CI = 0.63-90.86) higher for patients with urea cycle defects than for those with organic acidaemia. CONCLUSION: In patients with hyperammonaemia treated with peritoneal dialysis, the rate of ammonia removal and the underlying aetiology appear to be important prognostic factors. Neonates with organic acidaemia who are admitted to centres without continuous renal replacement therapy facilities can be effectively treated with peritoneal dialysis.

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Çelik M, Özgün N, Akdeniz O, Fidan M, Tüzün H, Ipek MS, Emecan M, Eminoglu FT. Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments. Turk J Pediatr 2018; 60: 540-546. The objectives of the study were to assess folate deficiency in patients with classic galactosemia, and to determine whether folic acid supplementation has an effect on galactose-1-phosphate uridyltransferase enzyme activity. Sixty-one newborn infants diagnosed with classic galactosemia between 2010 and 2017 were retrospectively evaluated. Within this group, 48 patients with Q188R homozygous mutation alone were enrolled into the study. Serum folate concentration was studied using chemiluminescence; and in folate deficient patients, galactose-1-phosphate uridyltransferase measurements before and after folic acid supplementation (100 mg/day folic acid for 30 days) were performed using an enzymatic calorimetric measurement technique based on kinetics. The serum folate level was low ( < 4 ng/ml) in 12 patients (25%). The galactose-1-phosphate uridyltransferase enzyme activity after folic acid supplementation was significantly higher than the values before folic acid supplementation (1.00±0.19 U/g Hb vs. 0.74±0.23 U/g Hb, p < 0.05); but was still less than the normal levels. Folate deficiency, most likely due to poor dietary intake, may develop in pediatric patients with classical galactosemia, and folic acid should be supplemented. Folic acid supplementation appears to have a low, but statistically significant, effect on galactose-1-phosphate uridyltransferase enzyme activity, but comprehensive research is needed to clarify whether there is any clinical significance.

Echocardiographic diagnosis of double-chambered left ventricle.

Double-chambered left ventricle (DCLV) is a rare congenital abnormality in which the left ventricle is divided into two separate chambers by a septum or anomalous muscular structure. The chambers are observed mostly parallel to each other without stenosis, and less frequently in a superior-inferior arrangement. An asymptomatic girl is presented here who was diagnosed with DCLV on echocardiographic examination that was performed for the evaluation of cardiac murmur detected by a pediatrician. She has been followed up without treatment.

Problems of the neonates with congenital heart disease requiring early interventions: a regional report.

AIM: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. MATERIAL AND METHODS: The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and ''Score for Neonatal Acute Physiology-II" (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at p<0.05. RESULTS: A total of 83 babies were included in the study. Forty six of the patients were male (55%), and 37 (45%) were female. Sixty eight percent of the patients were referred from the neighboring provinces and 32% were transferred from the centers within the city. The age range was between 0 and 28 (5.6±6.4 day) days. The SNAP-II scores upon admission ranged between 0 and 90 (mean: 20±20.3). None of the patients was diagnosed prenatally. The most common diagnoses included transposition of the great arteries (33.7%) and pulmonary atresia (19.3%). Nineteen (22%) patients were lost in the neonatal intensive care unit. There was a significant relationship between the mortality and the SNAP-II scores (p=0.0001) and use of vasopressors (p=0.004). The diagnosis, gender, use of alprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. CONCLUSIONS: The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of congenital heart disease. The mortality was much higher in the patients who developed circulatory failure. Most of the patients who survived were sent by air ambulance to the centers where the intervention was to be performed.

[Follow-up of our patients with transposition of the great arteries and arterial switch operation; comparison of simple and complex transposition cases]. / Arteriyel "switch" ameliyati yapilan büyük arter transpozisyonlu hastalarimizin izlemi; basit ve kompleks transpozisyon olgularinin karsilastirilmasi

OBJECTIVE: 1. Follow-up data of patients with simple transposition of great arteries (TGA) and TGA with ventricular septal defect (VSD), who had arterial switch operation (ASO) are compared. 2. Factors affecting mortality and morbidity after ASO are described. METHODS: Seventy-six patients, who had an ASO between April 2007 and August 2010 were studied retrospectively. The patients with intact ventricular septum (IVS) (n=36) were in Group 1, and those with VSD (n=40) in Group 2. The pre and postoperative clinical and echocardiographic variables and intensive care unit (ICU) outcomes were compared among groups using Mann-Whitney U, Pearson correlation and logistic regression tests. RESULTS: The mean age at operation was 44.1 days, weight was 3.6±0.98 kg. Patients were followed for 15.5±11.21 months. The aortic cross-clamp (AoCC) and cardiopulmonary bypass (CPB) times were higher in patients with VSD (p=0.001, p=0.004). Patients in Group 1 had longer inotropic agent infusion (p=0.001). Length of stay in ICU was similar in two groups (p>0.05). There was no correlation between the length of stay in ICU and age, weight, CPB time, AoCC time. Aortic regurgitation was more frequent in Group 2 (p=0.02). During follow-up, 12 patients died (15.7%), and 8 patients had a revision operation (10.5%) (diaphragmatic plication in 4, pulmonary artery reconstruction in 1, recoarctation operation in 3 patients). Mortality was similar in groups (p>0.05). CONCLUSION: Arterial switch operation provides anatomical correction in TGA. Appropriate timing and good perioperative planning facilitates low morbidity and mortality in patients with VSD as in patients with simple TGA.