A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

Comparison of Transcutaneous and Total Serum Bilirubin Measurements at Five Different Sites in Newborns before and after Phototherapy.

OBJECTIVE: This study aims to examine the accuracy of transcutaneous bilirubin (TcB) in estimating the total serum bilirubin (TSB) level at five different sites before and immediately after phototherapy. METHODS: This study prospectively enrolled infants with a gestational age of 34 to 416/7 weeks who were clinically diagnosed with neonatal jaundice and required phototherapy within 28 days after birth. TcB levels were measured on the uncovered four areas (forehead, mid-sternum, abdomen, and interscapular site) and covered hipbone by using the Dräger JM-103 Jaundice Meter before phototherapy and at 0 min after discontinuing phototherapy. Correlation and agreement between TcB and TSB levels were assessed before and after phototherapy. RESULTS: We included 108 infants with a mean gestational age of 37.6±1.5 weeks and birth weight of 3108±548 g. A strong significant correlation was found between TSB and TcB measurements at all five sites before phototherapy with the strongest correlation at the interscapular site (r=0.768, p=0.001). The correlation was weakened between TSB and TcB at all five sites after phototherapy; however, the strongest correlation was at the covered hipbone (r=0.619, p=0.001). TcB measurements at all five sites tended to underestimate TSB levels before and after phototherapy. The difference (TcB - TSB) tended to increase with increasing TSB levels. CONCLUSIONS: TcB levels were most accurately measured at the interscapular site and covered hipbone before and immediately after phototherapy, respectively.

Correlation between Perfusion Index and Left Ventricular Output in Healthy Late Preterm Infants.

OBJECTIVE: The perfusion index (PI) is a noninvasive marker derived from photoelectric plethysmographic signals in pulse oximetry in the evaluation of peripheral perfusion. This study was aimed to determine the correlation between PI and left ventricular output (LVO) in healthy late preterm infants at 48th hour of life. STUDY DESIGN: With new generation pulse oximeter (MASIMO Rad 7 Oximeter) pre- and post-ductal PI values were recorded from healthy late preterm babies at the 48th hour of life. PI was determined simultaneously with LVO as measured by transthoracic echocardiography. RESULTS: A total of 50 late preterm babies were included in the study. The mean gestational age of the cases was 35.4 ± 0.7 weeks and the birth weight was 2,586 ± 362 g. Mean pre- and post-ductal PI values at the postnatal 48th hour of babies' life were found to be 2.0 ± 0.9 and 1.7 ± 1.1. The mean LVO value was 438 ± 124, LVO/kg 175 ± 50. When the LVO value was normalized according to the babies' body weight, there was no statistically significant correlation between the pre- and post-ductal PI and the LVO/kg value (r <0.2, p >0.05 in both comparisons). CONCLUSION: There was no correlation between pre- and post-ductal PI and LVO values in healthy late preterm infants. This may be due to the failure of the LVO, a systemic hemodynamic parameter, to accurately reflect microvascular blood flow due to incomplete maturation of the sympathetic nervous system involved in the regulation of peripheral tissue perfusion in preterm babies. KEY POINTS: · No correlation found between PI and LOV in preterm babies.. · LVO cannot adequately reflect peripheral blood flow.. · Sympathetic nervous system is immature in preterm infants..

Treatment of Permanent Junctional Reciprocating Tachycardia in a Preterm Neonate: Case Report.

Permanent junctional reciprocating tachycardia (PJRT) is most often observed in infants and children and can lead to incessant tachycardia. PJRT is usually refractory to medical treatment. Tachycardia may infrequently occur in the fetus in which case fetal tachycardia transplacental treatment should be started immediately. Term delivery is recommended for fetuses with tachycardia in the absence of significant clinical compromise to avoid complications of preterm birth. Herein, a 36-week preterm neonate presented with PJRT. He had tachycardia in the fetal period and was treated with digoxin, amiodaron, and esmolol therapy after birth without undergoing the catheter ablation procedure.

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes.

BACKGROUND: To investigate the feasibility of critical congenital heart disease (CCHD) screening test by pulse oximetry in four geographical regions of Turkey with different altitudes, before implementation of a nationwide screening program. METHODS: It was a prospective multi-centre study performed in four centres, between December, 2015 and May, 2017. Pre- and post-ductal oxygen saturations and perfusion indices (PI) were measured using Masimo Radical-7 at early postnatal days. The results were evaluated according to the algorithm recommended by the American Academy of Pediatrics. Additionally, a PI value <0.7 was accepted to be significant. RESULTS: In 4888 newborns, the mean screening time was 31.5 ± 12.1 hours. At first attempt, the mean values of pre- and post-ductal measurements were: saturation 97.3 ± 1.8%, PI 2.8 ± 2.0, versus saturation 97.7 ± 1.8%, PI 2.3±1.3, respectively. Pre-ductal saturations and PI and post-ductal saturations were the lowest in Centre 4 with the highest altitude. Overall test positivity rate was 0.85% (n = 42). CCHD was detected in six babies (0.12%). Of them, right hand (91 ± 6.3) and foot saturations (92.1 ± 4.3%) were lower compared to ones with non-CCHD and normal variants (p <0.05, for all comparisons). Sensitivity, specificity, positive and negative predictive values, and likelihood ratio of the test were: 83.3%, 99.9%, 11.9%, 99.9%, and 99.2%, respectively. CONCLUSION: This study concluded that pulse oximetry screening is an effective screening tool for congenital heart disease in newborns at different altitudes. We support the implementation of a national screening program with consideration of altitude differences for our country.

Exchange transfusion for neonatal hyperbilirubinemia: an 8-year single center experience at a tertiary neonatal intensive care unit in Turkey.

OBJECTIVE: The aim of present study was to evaluate the indications and the complications associated with neonatal exchange transfusion (ET) performed for hyperbilirubinemia. METHODS: This study included overall 306 neonates who underwent ET between 2005 and 2012. The demographic characteristics of patients, causes of jaundice and adverse events occurred during or within 1 week after ET were recorded from their medical files. Those newborns that underwent ET were classified as either "otherwise healthy" or "sick" group. RESULTS: Of the 306 patients who underwent ET, 244 were otherwise healthy and had no medical problems other than jaundice. The remaining 62 patients were classified as sick that had medical problems other than jaundice ranging from mild to severe. The mean gestational age was 37.6 ± 2.5 weeks and the mean peak total bilirubin levels was 25.8 ± 6.6 mg/dl. The mean age at presentation was 5.4 ± 3.8 d for all infants. The most common cause of hyperbilirubinemia was ABO isoimmunization (27.8%). None of newborns died secondary to ET. Three infants had had necrotizing enterocolitis, and also three infants had had acute renal failure. The most common encountered complications of ET procedure were hyperglycemia (56.5%), hypocalcaemia (22.5%) and thrombocytopenia (16%). CONCLUSIONS: Our data showed that ABO isoimmunization was the most common cause of hyperbilirubinemia. Even mortality was not seen, very rare but major gastrointestinal and renal complications were associated with ET. The majority of adverse events associated with ET were laboratory abnormalities mainly hyperglycemia, hypocalcaemia and thrombocytopenia which were asymptomatic and treatable.

Rapid response to treatment of heart failure resulting from hypocalcemic cardiomyopathy.

Hypocalcemia is a rare condition that causes dilated cardiomyopathy and can result in heart failure. Patients with hypocalcemia have been reported to recover in 3 to 12 months after calcium and vitamin D replacement therapy as well as treatment of heart failure. A 6-month-old male patient who presented with dyspnea was admitted to the intensive care unit with severe heart failure and dilated cardiomyopathy. Blood biochemistry revealed hypocalcemia and vitamin D deficiency. After administration of anticongestive treatment, positive inotropic support, as well as vitamin D and calcium supplementation, cardiac function returned to normal in a week. Our case is the first report of such a rapid improvement in cardiac morphology and function in a patient with hypocalcemic dilated cardiomyopathy and heart failure.

Acute peritoneal dialysis in the newborn period: a 7-year single-center experience at tertiary neonatal intensive care unit in Turkey.

OBJECTIVE: To evaluate the underlying causes and outcomes of neonates who underwent acute peritoneal dialysis (APD). STUDY DESIGN: This report describes a 7-year experience with APD in 77 neonates. RESULTS: Underlying causes requiring APD were acute tubular necrosis (ATN; n = 53), inborn error of metabolism (n = 18), bilateral renal vein thrombosis (n = 3), obstructive uropathy (n = 2; posterior urethral valve and neurogenic bladder), and bilateral renal artery thrombosis (n = 1). Fifteen of the 53 patients developed post-cardiac surgery ATN. The mean dialysis duration was 6.2 ± 10.7 days (range 1 to 90 days). Complications of procedure were hyperglycemia (n = 35), leaking of dialysate (n = 13), peritonitis (n = 10), catheter obstruction (n = 3), bleeding when inserting the catheter (n = 3), exit site infection (n = 2), and bowel perforation (n = 1). There were 57 deaths (74%) in this high-risk group due to underling causes. Of the 20 survivors, 16 patients showed a full renal recovery, but mild chronic renal failure developed in 1 patient and proteinuria with/without hypertension in 3 patients. CONCLUSION: Peritoneal dialysis is an effective means of renal replacement therapy in the neonatal period in the management of metabolic disturbances as well as renal failure. Although major complications of procedure are not so common, these patients have high mortality rates due to the serious nature of the primary causes.

Distribution of congenital anomalies in a neonatal intensive care unit in Turkey.

BACKGROUND: Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey. METHOD: A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies. RESULTS: A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA. CONCLUSION: In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.

Reference values of perfusion indices in hemodynamically stable newborns during the early neonatal period.

We aimed to determine reference values of perfusion index (PI) in healthy newborns during the early neonatal period. Preductal (right hand) and postductal (foot) PI values were assessed during the first 5 days of life by using a new generation pulse oximetry. A total of 241 newborn infants (196 [81.3 %] term and 45 [18.7 %] preterm) were enrolled to the study. On the first day, in term infants, the median (interquartile range [IQR]) preductal and postductal PI were 1.35 (1.02-1.91) and 0.88 (0.62-1.22), respectively (p = 0.001). These values were 0.88 (0.60-1.26) and 0.61 (0.35-0.92) in preterm infants, with the same respect (p = 0.001). From the first to third days, preductal PI remained significantly higher than the postductal PI (p < 0.001, for all comparisons). Both preductal and postductal PI of term newborns were significantly higher than those of preterm infants (p < 0.001, for both comparisons). These differences in PI disappeared on the fifth day of life. Conclusion PI values which reflect peripheral perfusion seem to reach to a steady state on the fifth day of life following physiological maturation.

Clinical course of community-acquired respiratory syncytial virus pneumonia in newborns hospitalized in neonatal intensive care unit.

INTRODUCTION: Respiratory syncytial virus (RSV) is a major cause of pneumonia in infants worldwide. We aimed to evaluate the clinical course of community-acquired RSV pneumonia in newborns hospitalized in neonatal intensive care unit. MATERIALS AND METHODS: All the newborns diagnosed as pneumonia were prospectively evaluated for RSV infection between November 2010 and April 2011. Fifty-four specimens of nasopharyngeal secretions were tested in parallel with the RAT and the multiplex real time polymerase chain reaction (RT- PCR). Downes' score was used to assess the disease severity in patients with pneumonia. RESULTS: RAT has a sensitivity of 90% and a specificity of 78.5%, as the PCR technique target assay. Four of the patients with RSV pneumonia had secundum atrial septal defect (ASD) and all of four needed mechanical ventilation support. The first day Downes' score was positively correlated with time of intravenous fluid requirement (p= 0.001, r= 0.48), total oxygen need (p= 0.000, r= 0.63), and re-enteral feeding (p= 0.001, r= 0.46). Blood pH (p= 0.031, r= 0.46) were negatively correlated with Downes' score. The second day Downes' score was higher in patients with ASD than those of without ASD (3.8 ± 2.6 vs. 2 ± 1.1, p= 0.01). The most possible risk factor for longer hospital stay was the higher second day Downes' score (p= 0.02 OR: 1.9, CI 95% (1.1-3.2). All infants were discharged from hospital in a good health. CONCLUSION: RAT is sensitive and specific in detecting RSV infections in newborns. Physicians may use Downes' score for evaluation of disease severity in infants with RSV pneumonia. In these patients, ASD has increased the disease severity.

Literature review and outcome of classic galactosemia diagnosed in the neonatal period.

BACKGROUND: The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period. METHODS: A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a tertiary neonatal intensive care unit from January 2005 to January 2011. RESULTS: During the study period, 22 (18 boys, 4 girls) newborns were diagnosed with classic galactosemia. The median gestational age was 38 weeks (31 - 42) with a median age of 13 (3 - 23) days on admission. Major presenting symptoms were hepatomegaly (n = 22, 100%), jaundice [n = 19, 86%; including (n = 14, 63%) indirect and (n = 8, 36%) direct hyperbilirubinemia], vomiting (n = 17, 77%), and nuclear cataract (n = 15, 68%). Liver dysfunction (n = 22, 100%), Escherichia coli sepsis (n = 10), purpura fulminans (n = 1), hemophagocytosis (n = 1), and long QT syndrome (n = 1) were also noted. Cataract resolved in 11 (73%) patients with galactose-restricted diet in the first months. Four patients were operated for cataracts. Neurodevelopmental evaluation showed mild psychomotor retardation in one patient, learning disabilities in five, and developmental delay in three. None died from galactosemia or its complications. Patients who were diagnosed before 17 days did not require cataract operation. CONCLUSIONS: Early diagnosis of galactosemia and treatment with a galactose-restricted diet could partially prevent and recover complications of the disease, but not all of them. Cataracts can develop even in the first few weeks of life. Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity.