Neonatal Outcomes of Critical Congenital Heart Defects: A Multicenter Epidemiological Study of Turkish Neonatal Society : Neonatal Outcomes of CCHD.

Critical congenital heart disease (CCHD) is one of the leading causes of neonatal and infant mortality. We aimed to elucidate the epidemiology, spectrum, and outcome of neonatal CCHD in Türkiye. This was a multicenter epidemiological study of neonates with CCHD conducted from October 2021 to November 2022 at national tertiary health centers. Data from 488 neonatal CCHD patients from nine centers were entered into the Trials-Network online registry system during the study period. Transposition of great arteria was the most common neonatal CHD, accounting for 19.5% of all cases. Sixty-three (12.9%) patients had extra-cardiac congenital anomalies. A total of 325 patients underwent cardiac surgery. Aortic arch repair (29.5%), arterial switch (25.5%), and modified Blalock-Taussig shunt (13.2%). Overall, in-hospital mortality was 20.1% with postoperative mortality of 19.6%. Multivariate analysis showed that the need of prostaglandin E1 before intervention, higher VIS (> 17.5), the presence of major postoperative complications, and the need for early postoperative extracorporeal membrane oxygenation were the main risk factors for mortality. The mortality rate of CCHD in our country remains high, although it varies by health center. Further research needs to be conducted to determine long-term outcomes for this vulnerable population.

Epilepsy Frequency and Risk Factors Three Years After Neonatal Seizures.

BACKGROUND: Neonatal seizures, one of the main risk factors for the development of epilepsy, remain a clinical concern. In children with neonatal seizures, early recognition of risk factors is important for the early diagnosis and appropriate treatment of epilepsy and for improving prognosis. In this study, we aimed to determine the frequency of and the risk factors for the development of epilepsy in patients with neonatal seizures. METHODS: The hospital files of 228 children who experienced seizures in the neonatal period were reviewed. The frequency of epilepsy and risk factors for the development of epilepsy were determined at age 36 months. RESULTS: Epilepsy was diagnosed in 40.8% of the cases. Univariate analysis revealed family history of epilepsy, parental consanguinity, abnormal neurological examination findings, microcephaly, unresponsiveness to antiepileptic drugs or antiseizure medication, use of more than one antiepileptic drugs to antiseizure medication at discharge, status epilepticus, electroencephalography abnormalities, abnormal neuroimaging findings, invasive ventilation requirement, myoclonic seizures, central nervous system malformation, and congenital metabolic disease as risk factors for the development of epilepsy. Of these, a family history of epilepsy, abnormal neurological examination findings at discharge, and use of at least two antiepileptic drugs to antiseizure medication at discharge were found as independent risk factors in multivariate analysis. CONCLUSIONS: Neonatal seizures appear to be associated with epilepsy in more than one-third of the patients. Of the newborns with seizures, those with a family history of epilepsy, abnormal neurological examination findings at discharge, and those using at least two antiepileptic drugs to antiseizure medication at discharge should be monitored more carefully for the development of epilepsy.

Evaluation of the Neuroprotective Effect of Pycnogenol in a Hypoxic-Ischemic Brain Injury Model in Newborn Rats.

OBJECTIVE: This study aimed to evaluate the efficacy of Pycnogenol (PYC) and its antioxidant and antiapoptotic effect in an experimental hypoxic-ischemic (HI) rat model. STUDY DESIGN: A total of 24 Wistar albino rats who were on the seventh postnatal day were divided into three groups with developed HI brain injury model under the sevoflurane anesthesia: 40 mg/kg PYC was given to Group A, saline was given to Group B, and the sham group was Group C. Neuronal apoptosis was investigated by terminal deoxynucleotidyl transferase dUTP nick end labeling and immunohistochemically stained manually with primer antibodies of tumor necrosis factor-α and interleukin-1ß. RESULTS: The neuronal cell injury was statistically lower in the PYC treatment group. CONCLUSION: This is the first study that investigates the role of PYC in the HI brain injury model. PYC reduces apoptosis and neuronal injury in the cerebral tissue of the rats. PYC may be a protective agent against hypoxic-ischemic encephalopathy. KEY POINTS: · This is the first study that investigates the role of PYC in the HI brain injury model.. · PYC may be a protective agent against hypoxic-ischemic encephalopathy.. · Sevoflurane should not be preferred in rat studies where neuronal apoptosis will be investigated..

Is respiratory syncytial virus infection more dangerous than COVID 19 in the neonatal period?

OBJECTIVE: We aimed to compare the clinical features, laboratory findings and primary outcomes of the neonates with RSV and neonates with SARS-CoV-2 infections. MATERIALS AND METHODS: This nested case-control study included the neonates who were administered in the neonatal intensive care unit (NICU) of the University of Health Sciences, Dr Behçet Uz Children's Hospital during the period of 01 March-30 April 2020. Respiratory PCR samples and COVID-19 samples were taken simultaneously. Only RSV positive and COVID-19 positive infants were compared. Demographic, epidemiological and clinical data were obtained from hospital electronic information system medical records. The chest radiographs at the admission were evaluated by using standard definitions for normal chest X-ray, atelectasis, bronchopenumonia, peribronchial thickening and hyperinflation in various lung volumes. RESULTS: A total of 30 infants were enrolled in the study and RSV was identified in 20/30 infants (66%). No significant differences were observed between the two groups in terms of general characteristics. Comparing to the infants with Covid-19 infections, infants with RSV infections had significantly higher rates of having oxygen support (p = .03). Total NICU duration time was 6.7 ± 1.6 days in COVID positive group and 11.1 ± 5.1 days in the RSV group (p = .01). Infants with COVID-19 had more normal chest X-rays. Infants with RSV-positive had a significantly higher proportion of atelectasis than those with COVID-19 infants (p = .04). DISCUSSION: This is the first study that compares RSV infection and COVID-19 infection. RSV infection can be more serious in the neonatal period. In cases with suspected COVID-19 infection, it should be kept in mind if atelectasis is seen on chest radiography. Respiratory failure may be more serious in RSV positive infants and RSV infection may be more dangerous for the neonatal period.

Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.

Craniofrontonasal syndrome (CFNS) is a rare X-linked genetic disorder which is characterized by coronal synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in the EFNB1 gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of the EFNB1 gene was performed. A novel EFNB1 gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newborn who had only dysmorphic facial features and bicornuate uterus. The other 3 patients (2 familial cases and 1 sporadic case) shared the same mutation (c.196C>T; p.R66X). However, the clinical features of these patients were highly variable. Additionally, central (meso-axial) polydactyly and deep palmar creases were detected, which have not been previously reported. CFNS has a wide clinical spectrum, but there is no clear genotype-phenotype correlation. However, central (meso-axial) polydactyly and deep palmar creases may be part of the clinical spectrum seen in CFNS. In addition, our findings expand the mutational spectrum in patients with CFNS.

Ultrasonographic evaluation of the children with candiduria for the fungal ball: Is It necessary?

INTRODUCTION: Imaging of the urinary tract by ultrasonography (USG) or computerized tomography scanning is recommended for detecting structural abnormalities, hydronephrosis, abscesses, emphysematous pyelonephritis, or fungus ball formation. Limited studies on the epidemiology and the imaging results of candiduria were present in the children. AIM: This study aimed to evaluate the results of renal ultrasonography imaging in hospitalized pediatric patients with candiduria. STUDY DESIGN: In this descriptive study, we reviewed our ultrasonography findings with hospitalized children and infants who with candiduria. The study included the period between January 2012 and December 2019. Demographic data, the previous medical history, the clinical features of the patients, ultrasonographic findings of the urinary tract system, presence of an indwelling urinary catheter, type of urinary samplings, type of candida species were retrospectively recorded. The study was approved by Institutional Review Board with the registration number 2019/366. RESULTS: During the study period, 220 children with nosocomial candiduria were evaluated. The most common isolated candida species was Candida albicans (68.2%) and followed by C. tropicalis (9.1%). Among all patients, 2 (0.9%) had renal fungal balls associated with C. Albicans. Twenty-five patients (11.4%) had findings including internal echogenicity in the bladder (n = 12), uroepithelial thickening of the kidney (n = 10), and sediments in the renal pelvis (n = 3). DISCUSSION: Candida albicans was the most prominent candida isolated from the patients. The fungal ball is an uncommon infection especially in children and predominantly caused by Candida species. Fungal ball in the kidney was reported as case reports especially in neonates, in immunosupressed patients, and in patients who had undergone surgical procedures. In our study, none of the patients with the fungal ball were in the neonatal period, however, the patients with fungus ball had underlying disease or condition. Our study has several limitations including a retrospective study, and the USG were not performed by a single radiologist. Besides these limitations, our findings are important to give information about the place of USG for diagnosis of the renal fungal ball in children adding valuable information to a topic in which data came from mainly case reports. CONCLUSIONS: Despite the low incidence of fungal balls reported, considering the high consequences of missing a fungal ball and elimination of it, a non-invasive method such as the renal bladder USG is still necessary for detection of fungal ball especially. More prospective studies are required for high risk groups to establish the diagnostic value of renal USG.

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who was diagnosed with type B PC deficiency. Despite the application of anaplerotic treatment with biotin, citrate and arginine-aspartate, continuous veno-venous hemodialysis (CVVHD) treatments were applied due to the failure to keep hyperammonemia and lactic acidosis under control. Ammonia values increasing to 860 µmol/L were observed. A homozygous novel variant was detected in PC gene analyses containing a 12-base pair deletion on exon 8. Although the mutation found was not reported previously, it was accepted as a pathogenic variant due to its presence in a functional region of the protein. In type B PC deficiency, although a high level of ammonia is expected, it rarely exceeds 200 µmol/L. As far as we know, the present case has the highest ammonia values in the literature. This paper has been shared to highlight to keep PC deficiency in mind regarding the differential diagnosis of hyperammonemia, particularly in the presence of lactic acidosis, and to serve as a model for the use of different modalities in the management process of PC deficiency.

A rare vascular lesion of newborn: cutis marmorata telangiectatica congenital.

Cutis marmorata telangiectatica congenita is a rare, benign, sporadic and cutaneous vascular disease. A newborn female baby whose mother was aged 29 years and used propylthiouracil during pregnancy was hospitalized because of varicose lesions on the skin of the lower extremity and on the back, which were present at birth. It was observed that the lesions did not disappear, although appropriate room temperature was provided. The patient was diagnosed as having cutis marmorata telangiectatica congenita and screened for additional anomalies. She had no additional anomalies, and she was discharged and monitored. At the postnatal sixth month, the cutaneous vascular lesions disappeared spontaneously. Cutis marmorata telangiectatica congenita, which is a rare condition, should be kept in mind in the differential diagnosis of physiologic cutis marmoratus, which occurs frequently in the neonatal period.

Kutis marmorata telenjiektatika konjenita; nadir görülen, selim, sporadik, deriyi tutan vasküler bir hastaliktir. Yirmi dokuz yasinda hipertroidi nedeni ile propiltiyourasil kullanan anneden dogan kiz bebek, her iki alt ekstremitede ve sirtta yerlesim gösteren renk degisikliginin eslik ettigi variköz lezyonlar nedeniyle yatirildi, lezyonlarin uygun ortam sicakligi saglanmasina ragmen düzelmedigi saptandi. Kutis marmorata telenjiektatika konjenita tanisi konan olgu; eslik edebilecek ek anomaliler açisindan tarandi; ek anomali saptanmayan olgu taburcu edilerek izleme alindi, postnatal altinci ayda kutanöz vasküler lezyonlarin kendiliginden kayboldugu görüldü. Yenidogan döneminde sik olarak karsimiza çikan fizyolojik kutis marmoratus ayirici tanisinda, ender görülen bir durum olan kutis marmorata telenjiektatika konjenita da akilda tutulmalidir.

Abernethy Malformation Type 2 and Biliary Atresia Coexistence: A Rare Cause of Infantile Liver Transplant.

INTRODUCTION: Abernethy malformation is a very rare condition in which mesenteric venous blood is drained into systemic circulation by an extra hepatic portosystemic shunt. Here we present a case of a female in infantile period who is a liver transplant candidate with biliary atresia and ventricular septal defect (VSD) accompanying Abernethy malformation type 2. CASE REPORT: The patient who underwent Kasai operation at postnatal day 35 was identified as a liver transplant candidate in the postnatal month 6 due to growth retardation in the infantile period, insufficient weight gain and liver failure (portal hypertension and massive gastrointestinal bleeding). CONCLUSION: Abernethy malformation is divided into two groups as type 1 and type 2; type 2 shunts, which are less common, but more common in males, are not accompanied by other congenital anomalies. Due to the female gender, having biliary atresia and VSD, the development of liver failure at an early stage despite undergoing Kasai operation at the appropriate time, our case differs from the literature. In conclusion, this case is presented in order to indicate the proper and effective use of imaging methods in neonatal cholestasis cases.How to cite this article: Ergon EY, Ermis N, Colak R, Polat B, Ozdemir S, Yildiz M, Kulali F, Ecevit C, Ergun O, Calkavur S. Abernethy Malformation Type 2 and Biliary Atresia Coexistence: A Rare Cause of Infantile Liver Transplant. Euroasian J Hepatogastroenterol, 2018;8(2):163-166.

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C.

BACKGROUND: Glucose transporter type 1 deficiency syndrome is the result of impaired glucose transport into the brain. Patients with glucose transporter type 1 syndrome may present with infantile seizures, developmental delay, acquired microcephaly, spasticity and ataxia. CASE REPORT: Here, we report a rare case of glucose transporter type 1 deficiency syndrome caused by a different pathogenic variant in a 10-day-old neonate who presented with intractable seizures and respiratory arrest. CONCLUSION: This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome.