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.

The Impact of the COVID-19 Pandemic on Respiratory Syncytial Virus Infection in the Neonatal Period.

OBJECTIVE: Respiratory syncytial virus (RSV) is the most common viral respiratory infection in infants. This study aimed to establish the potential changes in the clinical course of RSV in the neonatal period with the onset of the coronavirus disease 2019(COVID-19) pandemic. STUDY DESIGN: During the observational study period, newborns diagnosed with community-acquired RSV infection and admitted to the neonatal intensive care unit (NICU) were evaluated. RSV-infected neonates before the COVID-19 pandemic were classified as Group 1, those during the strict isolation period as Group 2, and RSV-infected newborns after the removal of restrictions were classified as Group 3. RESULTS: A total of 208 community-acquired RSV-infected neonates were analyzed. The median age at admission to the NICU was 26 days, and the mean gestational week was 37.2 ± 2.7. The ratio of hospitalized babies with RSV infection to all hospitalized newborns rose after the pandemic significantly (1.9, 1.6, 5.2%; p < 0.001). Following the pandemic, there was an increase in full-term, early-term, and late-preterm cases. Nevertheless, no change was observed in the number of preterm cases (p > 0.05). There was also a statistically significant increase in the need for intubation, noninvasive ventilation (NIV), supplemental oxygen, inhaled bronchodilator drugs, and length of hospital stay in Group 3 after the pandemic (p < 0.001). All these parameters related to more severe RSV infection when the precautions were removed, while there was a milder disease with restrictions during the pandemic in Group 2 (p < 0.001). However, none died due to RSV infection during the study because of timely supportive care. CONCLUSION: Following the COVID-19 pandemic, the frequency and severity of RSV infection in newborns have increased, and it can result in a serious clinical picture even in full-term babies with no comorbidities. Attention to strict contact precautions, particularly in newborns, who are a more vulnerable population after the pandemic, may play an important role in any future outbreak. KEY POINTS: · The course of neonatal RSV infection has changed after the pandemic.. · A statistically significant increase was observed in the need of intubation in newborns with RSV.. · The strict precautions during the pandemic also helped to prevent the transmission of RSV..

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..

Evaluation of syringin's neuroprotective effect in a model of neonatal hypoxic-ischemic brain injury.

Background/aim: A significant cause of mortality and morbidity in the neonatal era is hypoxic-ischemic encephalopathy (HIE). This study examined the histopathological analysis and neuroprotective impact of syringin (SYR) in an experimental HIE rat model. Material and methods: On the 7th postnatal day, 24 Wistar albino rats were evaluated in 3 groups using the HIE model under gas anesthesia. In the experiment, Group A received 10 mg/kg SYR plus dimethyl sulfoxide (DMSO), Group B received DMSO only, and Group C served as a sham group. Immunohistochemical techniques were used to assess apoptotic cell measurement and proinflammatory cytokines (TNF-α and IL-1ß primary antibodies). Results: Rats suffering from hypoxic-ischemic brain damage had their apoptosis assessed. The SYR and sham groups had statistically fewer cells undergoing apoptosis (p < 0.001). There was no difference between the groups in terms of IL-1ß and TNF-α during immunohistochemical staining. Neuronal degeneration was significantly lower in the histological evaluation of the hippocampus in the SYR group (p = 0.01). A statistically significant difference (p = 0.01) was observed between the SYR and the control groups regarding pericellular and perivascular edema. Conclusion: SYR reduced apoptosis, perivascular and pericellular edema, and neuronal degeneration in rat cerebral tissue. These results raise the possibility that SYR may have a neuroprotective effect on the harm brought on by HIE. This is the first investigation of SYR's function within the HIE paradigm.

Can surfactants affect mortality and morbidity in term infants with respiratory failure?

BACKGROUND: We aimed to discuss term infants who are given surfactant due to respiratory disorder according to the underlying etiology, the dose of surfactant administration, and the need for repeated surfactant administration. METHODS: In this retrospective study infants hospitalized in the 4th level neonatal intensive care unit during January 2019 and December 2021 and administered surfactant due to respiratory distress were included. Term infants given surfactant due to respiratory failure were included in the study through the data recording system. The number of surfactant doses, indications for administration, mortality, duration of hospitalization, intubation time, and inotrope use were recorded in the infants included in the study. RESULTS: : During the two-year period, 1250 infants were hospitalized in our neonatal intensive care unit. Of those, 56 infants received surfactant replacement therapy for severe respiratory failure. There were 30 infants with pneumonia, 4 infants with meconium aspiration syndrome (MAS), and 22 infants with transient tachypnea of the newborn (TTN). It was seen that single-dose administration was higher in patients with TTN (p = 0.01), while multiple-dose surfactant administration was more common in patients with MAS, resulting in a statistical difference (p = 0.02). Mortality was lower, especially in cases given early surfactant administration and this situation was statistically significant (p < 0.001). Duration of intubation was 5.05 ± 4.7 days in early surfactant administration group and 8.0 ± 6.1 days in late surfactant administration group. This difference was statistically significant (p = 0.04). While early surfactant application was statistically higher in the TTN group (p = 0.007), late surfactant application was statistically higher in the pneumonia group (p = 0.001). DISCUSSION: Despite the difference on administration time and repeat dose interval due to etiology, surfactant treatment is improving the respiratory distress of term infants.

Hypernatremic Dehydration Risk Factors in Newborns: Prospective Case-Controlled Study.

BACKGROUND: The prevalence of hypernatremic dehydration (HND) has increased in recent years most likely due to insufficient intake of breast milk as the most important factor. This study aimed to investigate risk factors of HND. METHODS: In this study, 47 neonates whom were diagnosed to have HND were included in the study group and 96 healty neonates whom were included in the control group. While demographic data of the patients were recorded, mothers were asked to fill out the sociodemographic/ psychosocial data form, Edinburgh Postpartum Depression Scale(EPDS) and STAI I and II State and Trait Anxiety Scale. Breast milk sodium concentrations were studied from mothers of all infants. The relationship between the development of neonatal HND and risk factors affecting this condition were evaluated. RESULTS: Being the first-born baby of the family was found to be a significant risk factor for HND. Breast milk sodium concentration was 25.8±7.9 mmol/L in the HND group which was significantly higher than the control group. Median depression score was similar in both groups and there was no statistical difference in terms of groups. The anxiety score was higher in the control group compared to the study group. There was no difference in terms of other sociodemographic / psychosocial data of mothers. CONCLUSION: Primiparity or insufficient breastfeeding may result in elevated breast milk sodium levels and related neonatal HND. Breastfeeding support should principally target primiparous women to improve breastfeeding outcomes like as especially HND.

Psychometric Properties of the Turkish Version of the Neonatal Infant Acute Pain Assessment Scale.

PURPOSE: Even the healthiest neonates experience pain during painful interventions (e.g. administration of Vitamin K, heel lance) in their first moments of life. This study aimed to examine the validity and reliability of the Turkish version of the Neonatal Infant Acute Pain Assessment Scale. DESIGN AND METHODS: This methodological study was conducted with 100 newborns receiving treatment and care in a tertiary neonatal intensive care unit. The data were collected using the Neonate Demographic Form, the Neonatal Infant Acute Pain Assessment Scale, and the Premature Infant Pain Profile. The scale was analyzed in terms of validity, internal consistency, and interobserver reliability. RESULTS: The content validity index of the scale was found to be between 0.87 and 1.00, while Cronbach's alpha coefficient was between 0.708 and 0.833. According to the item analysis results, item-total correlation values were high. A strong positive correlation was found between the scores of the two scales that were analyzed for concurrent validity. CONCLUSIONS/PRACTICE IMPLICATIONS: The Turkish version of the Neonatal Infant Acute Pain Assessment Scale was determined to be valid and reliable. More studies should be done to accurately measure and effectively manage neonatal pain.

Can neonatal hepatitis be more fatal than biliary atresia?

BACKGROUND/AIMS: The basic problem in diagnosis of neonatal cholestasis (NC) is to differentiate biliary atresia (BA) from other non-obstructive disorders. Because if bile flow cannot be provided by surgery, BA leads to cirrhosis and death within the first year of life. The aim of the present study is to determine histopathological features that may help to differentiate BA from neonatal hepatitis (NH). MATERIAL AND METHODS: This retrospective study was carried out on 105 liver biopsy specimens of 74 infants with NC who were diagnosed between 2003 and 2012. RESULTS: The mean age was 76.5 ± 40.64 days. The most valuable biopsy findings for the discrimination between NH and BA, in decreasing order of importance, were ductular proliferation (p < 0.001), cholestasis in neoductuli (p < 0.001), fibrosis (p = 0.002), and extramedullar hematopoiesis (p = 0.02). While Kasai operations were performed in 19 cases, liver transplantation was performed in 10 cases. Survival rate among the death cases with BA was longer than the survival time of the death cases with NH (p = 0.023). Currently more children live with a close to normal quality of life with portoenterostomy and/or liver transplantation. On the contrary, NH can be more fatal with associated disorders such as growth retardation, specific infections, respiratory distress, and metabolic or endocrine diseases.

Is there a relationship between maternal periodontitis and pre-term birth? A prospective hospital-based case-control study.

OBJECTIVE: The aim of this study is to verify the existence of an association between maternal periodontal disease and pre-term delivery in an unselected population of post-partum Turkish women. MATERIALS AND METHODS: This case-control study was conducted on 100 women who gave birth in either a special or a government maternity hospital. The case group consisted of 50 mothers who had delivered an infant before 37 weeks' gestation and weighed under 2500 g. The control group included 50 mothers who had given birth to an infant with a birth weight of more than 2500 g and a gestational age of ≥37 weeks. Data of mothers and infants were collected using medical registers and questionnaires. Clinical periodontal examinations were carried out in six sites on every tooth in the mother's mouth. A participant who presented at least four teeth with one or more sites with a PPD ≥4 mm and CAL ≥3 mm at the same site was considered to have periodontal disease. Statistical methods included parametric and non-parametric tests and multiple logistic regression analysis. RESULTS: There were no statistically significant differences between the cases and controls with regard to periodontal disease and pre-term delivery (OR = 1.48; 95% CI = 0.54-4.06). CONCLUSION: The findings indicated that maternal periodontitis was not a possible risk factor for pre-term delivery. Further studies with additional clinical trials are needed to explore the possible relationship between periodontal disease and pre-term birth.

The long-term neurodevelopmental outcomes of toddlers with SARS-CoV-2 infection in the neonatal period: a prospective observational study.

BACKGROUND: The effect of Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) virus in the neonatal period on developing brain is still unknown. This study aims to investigate the long-term neurodevelopmental outcomes of newborns exposed to SARS-CoV-2 & Delta variant. METHODS: At a tertiary referral center, a prospective observational cohort research was carried out. All babies who were equal to or more than 34 gestational weeks gestation and were admitted to the NICU between January 2021 and January 2022 due to SARS-CoV-2 infection (Delta - or Delta +) were included in the study. Infants who were hospitalized for non-SARS-CoV-2 reasons at similar dates and who had no history of invasive mechanical ventilation were incorporated as a control group using a 2:1 gender and gestational age match. Thirty infants were assigned to the study group and sixty newborns to the control group based on the sample size calculation. These toddlers' neurodevelopment was evaluated between the ages of 18 and 24 months using the Bayley-II scale. RESULTS: We enrolled 90 infants. SARS-CoV-2-positive infants had poorer psychomotor development index (PDI) scores and significantly greater mildly delayed performances (MDPs) at 18-24 months (PDI p = 0.05, MDPs p = 0.03, respectively). Delta variant showed statistically significant lower MDI and PDI scores (MDI p=0.03, PDI p=0.03, respectively). A smaller head circumference of SARS-CoV-2-positive toddlers was detected in the first year (p < 0.001), which improved at the second age. CONCLUSION: SARS-CoV-2-positive neonates revealed lower PDI scores and greater MDPs at 18th-24th months. The effect is most noticeable in Delta variant. Longer-term examination of neurodevelopmental outcomes and reevaluation of these children between the ages of 5 and 12 are critical.

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.

Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms.

BACKGROUND: The imbalance between pro-inflammatory and anti-inflammatory cytokines may play a role in the development of bronchopulmonary dysplasia (BPD) in preterm infants. Mannose binding lectin (MBL) codon 54 and interleukin 1 receptor antagonist gene (IL1-RN) polymorphisms cause genetic predisposition to increased risk of infection and inflammation, therefore may increase the risk of BPD. The aim of this study was to investigate the relationship between MBL, IL1-RN gene polymorphisms and BPD development in preterm infants. METHODS: MBL codon 54 and IL1-RN polymorphisms were studied in 71 infants who were born at <32 weeks of gestation, with the diagnosis of BPD (group 1) and in a control group of preterm infants without BPD (group 2). RESULTS: IL1-RN and MBL2 variant genes were closely associated with increased risk of BPD (both P < 0.001) together with significantly lower birthweight (P < 0.001 and P = 0.001, respectively), lower 5 min Apgar scores (P = 0.009 for both genes) and increased neonatal infection rate (P < 0.001 and P < 0.009, respectively). The IL1 RN 1/1 genotype was protective (odds ratio [OR], 0.075; 95% confidence interval [CI]: 0.019-0.76) while the IL1-RN 2/2 genotype increased the risk for BPD (OR, 11.7; 95%CI: 1.3-103.6). The MBL-AA genotype was protective against BPD (OR, 0.066; 95%CI: 0.02-0.2) whereas the MBL-BB genotype increased the susceptibility for the development of BPD (OR, 23.8; 95%CI: 2.8-200.6). CONCLUSION: MBL and IL 1 RN polymorphisms are closely related to low birthweight and increase the risk of neonatal sepsis and BPD development in preterm infants.

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.

Assessment of clinical characteristics and treatment outcomes of pediatric patients with intracardiac thrombosis: a single-center experience.

The prevalence of intracardiac thrombus (ICT) is gradually increasing, though it is rare among children. Data related to the occurrence of ICT among children are limited, and treatment recommendations have been made utilizing adult guidelines. The primary objective of this study is to determine associated factors, management, and outcomes of intracardiac thrombosis in children. Between January 2013 and January 2020, patients diagnosed with ICT at the Pediatric Hematology-Oncology and Pediatric Cardiology departments in our hospital were included in the study. Demographic characteristics, clinical and laboratory findings, treatment protocols, and outcomes were analyzed retrospectively. The median age at diagnosis was 10.5 months (2 days to 14.5 years), and the median follow-up period was 6.5 months (1 month to 3.1 years). The most common primary diagnoses of the patients, in order of frequency, were heart disease (n: 8), metabolic disease (n: 3), prematurity and RDS (n: 3), burns (n: 2), pneumonia (n: 2), and asphyxia (n: 2). CVC was present in 19/23 of the patients. The reasons for CVC insertion were the need for plasmapheresis in one patient with a diagnosis of HUS and the need for well tolerated vascular access because of long-term hospitalization in others. LMWH was administered to all patients as first-line therapy. Complete response was achieved in 19 (79%) of 24 patients and 4 patients (16.6%) were unresponsive to medical treatment. It was found out that the thrombus location, type, sepsis, and hemoculture positivity, as well as the presence of CVC, had no impact on treatment response (chi-square P = 0.16, 0.12, 0.3, 0.49, 0.56). Moreover, no correlation was determined between thrombus size and treatment response (Mann Whitney U test P = 0.47). The mortality rate was determined to be 12.5% (3/24). Spontaneous occurrence of ICT is rare in childhood, without any underlying primary disease or associated factor. The presence of CVC, sepsis, and heart disease are factors associated with ICT. The success rate is increased with medical treatment. There was no significant difference in treatment response between the newborn and 1 month to 18-year-old patient group. It has been demonstrated that thrombus size, type, localization; sepsis, and hemoculture positivity had no impact on the treatment response.

Intravenous Immunoglobulin Use in Hemolytic Disease Due to ABO Incompatibility to Prevent Exchange Transfusion.

Introduction: Intravenous immunoglobulin (IVIG) has been widely used to treat the hemolytic disease of the newborn (HDN). Although it has been shown that IVIG treatment reduces the duration of phototherapy and hospitalization, the use of IVIG in hemolytic disease due to ABO incompatibility has been controversial in recent years. This study aimed to investigate the role of IVIG in the prevention of exchange transfusion in infants with ABO HDN who presented with bilirubin levels at or above the level of exchange transfusion. Materials and Methods: This study evaluated the data of infants with ABO HDN in the Turkish Neonatal Jaundice Online Registry. The infants with ABO HDN who met the total serum bilirubin level inclusion criteria (within 2-3 mg/dL of exchange transfusion or even above exchange transfusion level) were included in the study according to the guidelines from the American Academy of Pediatrics and the Turkish Neonatal Society. All patients were managed according to the unit protocols recommended by these guidelines and received light-emitting diode (LED) phototherapy. Infants who only received LED phototherapy, and who received one dose of IVIG with LED phototherapy were compared. Results: During the study period, 531 term infants were included in the study according to inclusion criteria. There were 408 cases in the phototherapy-only group, and 123 cases in the IVIG group. The demographic findings and the mean bilirubin and reticulocyte levels at admission were similar between the groups (p > 0.05), whereas the mean hemoglobin level was slightly lower in the IVIG group (p = 0.037). The mean age at admission was earlier, the need for exchange transfusion was higher, and the duration of phototherapy was longer in the IVIG group (p < 0.001, p = 0.001, and p < 0.001, respectively). The rate of re-hospitalization and acute bilirubin encephalopathy (ABE) was higher in the IVIG group (p < 0.001 and p = 0.01, respectively). Conclusion: In this study, we determined that one dose of IVIG did not prevent an exchange transfusion nor decrease the duration of phototherapy in infants, who had bilirubin levels near or at exchange transfusion level, with hemolytic disease due to ABO incompatibility.

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.

A new mutation associated with Pierson syndrome. / Una nueva mutación asociada con el síndrome de Pierson.

Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa.

El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadena ß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98 casos y 50 mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.

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.

Impact of central line bundle for prevention of umbilical catheter-related bloodstream infections in a neonatal intensive care unit: A pre-post intervention study.

BACKGROUND: Central line-associated bloodstream infection is the most common infection associated with healthcare in preterm infants. The purpose of this 18-month cross-sectional study was to evaluate the effectiveness of bundle applications in the prevention of umbilical venous catheter (UVC)-associated bloodstream infections. METHODS: This study included patients in whom UVCs were inserted and who were diagnosed with central line-associated bloodstream infection between July 1, 2016, and December 31, 2017, according to the Centers for Disease Control and Prevention criteria. During the second 9-month period of the study (April 1, 2017, to December 31, 2017), bundles were implemented. RESULTS: In the prebundle period, 589 patients were admitted to the neonatal intensive care unit, and 6,769 hospitalization days and 485 UVC days were recorded. Similarly, during the bundle period, 508 patients were admitted to the neonatal intensive care unit, and 7,789 hospitalization days and 508 UVC days were recorded. The UVC-associated bloodstream infection rate was 12.4 per 1,000 catheter days in the prebundle period and decreased to 3.9 per 1,000 catheter days in the bundle period. Thus, after introducing bundle applications, the rate of infection decreased by 68% (P < .01). CONCLUSIONS: This study showed that bundle application effectively reduced UVC-associated bloodstream infection.