Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience.

Congenital diarrheal disorders (CDDs) are a heterogeneous group of inherited diseases that typically occur in the first weeks of life or can present later in life after the introduction of different nutrients; they can cause life-threatening severe dehydration and electrolyte disturbances. This study was conducted to characterize the causes of monogenic CDDs, and their clinical consequences. Clinical characteristics of 31 patients with CDDs that occurred in the first month of life and lasted more than 2 weeks were analyzed retrospectively. The patients were divided into groups according to the current CDD classification. The rate of consanguinity among parents was 77.4%. Of the patients, 16 (51.6%) were female and 15 (48.4%) were male. The underlying genetic defect was determined in 26 (83.9%) patients. The most common etiologic factors were digestive disorders of food and absorption and transport of electrolytes (58.1%, 18/31) (most of them being carbohydrate malabsorption disorders, 12/18) and intestinal immune system disorders (9.6%, 3/31). Total parenteral nutrition (TPN) was given to 45.2% (14/31) of the patients. Mortality rate was 28.5% (8/28). In conclusion, early diagnosis and treatment of CDDs with high morbidity and mortality is extremely important in terms of prognosis. Clinical and laboratory findings, stool characteristics, histopathological findings and the effects of dietary therapy are the primary and most important steps that lead to accurate diagnosis. In addition, advanced diagnostic possibilities, including genetic analyses, are essential for diagnosing underlying diseases.

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.

Lactobacillus rhamnosus Sepsis Associated with Probiotic Therapy in a Term Infant with Congenital Heart Disease.

BACKGROUND: Congenital heart diseases (CHD) are the most common birth defects. Necrotizing enterocolitis (NEC) is an important cause of morbidity and mortality in premature infants, and probiotics can be used to protect NEC. CASE REPORT: We present a term infant with aortic coarctation who developed sepsis with Lactobacillus rhamnosus GG after probiotic use, successfully treated with ampicillin. The baby unfortunately died of acute cardiac arrest on the 90th day of life. CONCLUSION: Probiotic-associated sepsis may develop in infants with various risk factors such as central catheterization, long-term mechanical ventilation and in those at risk for NEC.

Thiol-Disulfide Homeostasis in Neonatal Patients with Urinary Tract Infection.

OBJECTIVE: Urinary tract infection (UTI) is a disease that can cause significant complications in the neonatal period. The thiol-disulfide homeostasis is one of the important antioxidant defense mechanisms. The purpose of this study is to show the relationship between UTI and thiol-disulfide homeostasis in newborns. STUDY DESIGN: In this prospective study, 40 newborns with UTI and 40 healthy controls were included. Thiol-disulfide tests (disulfide, native thiol, and total thiol levels) and septic screening tests were performed before and after antibiotherapy in UTI group. The control group was selected from healthy newborns who applied to the outpatient clinic. RESULTS: The C-reactive protein and interleukin-6 levels were higher, while native thiol and native thiol/total thiol ratio were significantly lower in pretreatment group compared with posttreatment and control group. Also, the levels of disulfide, ischemia modified albumin, disulfide/native thiol ratio, and disulfide/total thiol ratio were higher in pretreatment group compared with posttreatment group. CONCLUSION: The thiol-disulfide homeostasis is an important indicator of oxidative stress during infections. It is valuable to be detected with small amounts of serum in newborns. These molecules can be used to support the diagnosis of UTI in the newborn. Further studies are needed to define the role of thiol-disulfide homeostasis in the UTI of newborn. KEY POINTS: · The thiol-disulfide homeostasis can be an important indicator of oxidative stress during infections such as UTI.. · The thiol-disulfide homeostasis of newborn is valuable to be detected with small amounts of serum in neonatal period.. · Laboratory tests such as white blood cell count, erythrocyte sedimentation rate, and C-reactive protein are not significantly different in UTIs..

Un trastorno poco frecuente del ciclo de la urea en un recién nacido: deficiencia de N-acetilglutamato sintasa / A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency

Los trastornos del ciclo de la urea (TCU) son enfermedades hereditarias con un posible desenlace desfavorable por hiperamoniemia grave. Se informa de una bebé con deficiencia de N-acetilglutamato sintasa (NAGS), quien tenía succión débil e hipotonicidad. Al examinarla, se observó hepatomegalia. El hemograma, los análisis y la gasometría eran normales, y las proteínas de la fase aguda, negativas. En los análisis, no se observaron cetonas en sangre, pero sí concentraciones elevadas de amoníaco. Las pruebas metabólicas no fueron concluyentes. Se inició el tratamiento de emergencia inmediatamente y recibió el alta el día 15 después del ingreso. Se confirmó deficiencia de NAGS mediante análisis de ADN. La paciente no tiene restricciones alimentarias ni toma medicamentos, excepto N-carbamil glutamato (NCG). La deficiencia de NAGS es el único TCU que puede tratarse específica y eficazmente con NCG. La detección temprana permite iniciar un tratamiento temprano y evitar los efectos devastadores de la hiperamoniemia

Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency.The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG).NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency. / Un trastorno poco frecuente del ciclo de la urea en un recién nacido: deficiencia de N-acetilglutamato sintasa.

Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG). NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia.

Los trastornos del ciclo de la urea (TCU) son enfermedades hereditarias con un posible desenlace desfavorable por hiperamoniemia grave. Se informa de una bebé con deficiencia de N-acetilglutamato sintasa (NAGS), quien tenía succión débil e hipotonicidad. Al examinarla, se observó hepatomegalia. El hemograma, los análisis y la gasometría eran normales, y las proteínas de la fase aguda, negativas. En los análisis, no se observaron cetonas en sangre, pero sí concentraciones elevadas de amoníaco. Las pruebas metabólicas no fueron concluyentes. Se inició el tratamiento de emergencia inmediatamente y recibió el alta el día 15 después del ingreso. Se confirmó deficiencia de NAGS mediante análisis de ADN. La paciente no tiene restricciones alimentarias ni toma medicamentos, excepto N-carbamil glutamato (NCG). La deficiencia de NAGS es el único TCU que puede tratarse específica y eficazmente con NCG. La detección temprana permite iniciar un tratamiento temprano y evitar los efectos devastadores de la hiperamoniemia.

Preventative and therapeutic effects of fennel (Foeniculum vulgare) seed extracts against necrotizing enterocolitis.

We aimed to understand the efficacy of fennel (Foeniculum vulgare: FV) extract in an experimental necrotizing enterocolitis (NEC) model. Forty-two rat pups were divided into three groups as NEC, NEC treated with fennel extract, and control. At the end of the experiment, tissue samples were taken from the proximal colon and ileum for biochemical and immuno-histological studies including hematoxylin-eosin and Caspase-3-8-9 immunohistochemical staining. Bowel damage and apoptosis were found to be less in the NEC + FV group. Oxidant stress, caspase 3, TNF-α, and IL-6 levels were considerably decreased in the NEC + FV group. Antioxidants were significantly higher in the NEC + FV group more than in the NEC group. Moreover, protein, DNA damage, and lipid peroxidation were found to be decreased in the NEC + FV group compared to the NEC group. PRACTICAL APPLICATIONS: Intense inflammation, oxidant stress, apoptosis, and infection are important in the development of NEC. Fennel has anti-oxidant, anti-inflammatory, antibacterial, antifungal, antiviral, immunomodulatory effects. Fennel extract might be a novel option in the treatment of NEC through its anti-oxidant, anti-inflammatory, anti-apoptotic, and cytoprotective features.

Central Diabetes Insipidus in an Infant with Pneumococcal Meningitis.

BACKGROUND: Central diabetes is an infrequent complication reported in the neonatal period. CASE REPORT: CDI as a complication of Streptococcus pneumoniae (S. pneumoniae) sepsis and meningitis in a 9-day-old boy is presented. The CDI developed on day 3 after admission and was controlled with nasal vasopressin on the 20th day of admission. Despite antibiotic support, the child died from Acinetobacter sepsis at 4 months of age, but the CDI was well controlled. CONCLUSION: Newborns with bacterial meningitis can develop CDI as a sequalae. Treatment of the CDI with nasal vasopressin can be successful in this period. To our knowledge, this is the first newborn of CDI associated with S. pneumoniae meningitis.

Isolated thoracoschisis: Case report.

Ardiçli B, Karaman A, Özyazici A, Zenciroglu A, Okumus N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity. We present a case of isolated thoracoschisis. A 24-week gestational age boy presented with a 3 cm chest wall defect in the left lateral 10th intercostal space and intestines herniating through the defect. There was no history of maternal drug use during pregnancy. Birth weight was 500 g. He underwent surgery. The intestines were reduced via the thoracic wall defect.

Predictive values of plasma KL-6 in bronchopulmonary dysplasia in preterm infants.

BACKGROUND/AIM: It has been suggested that plasma KL-6 increases in premature infants with bronchopulmonary dysplasia (BPD). We aimed to evaluate the predictive values of KL-6 in BPD. MATERIALS AND METHODS: The study was performed in preterm neonates with birthweight ≤1500 g and gestational age ≤32 weeks. Plasma KL-6 levels were measured on postnatal days 1, 7, and 14. RESULTS: BPD was identified in eight of the 28 study infants. On postnatal days 1 and 7, plasma KL-6 levels were similar in infants with BPD [on day 1: 8.9 (7.5-17.8) U/mL and on day 7: 16.8 (10.5-47.7) U/mL] and without BPD [on day 1: 10.8 (9.4-17.2) U/mL and on day 7: 12.9 (5.8-19.3) U/mL] (P = 0.38 and P = 0.13, respectively). On day 14, KL-6 levels were significantly higher in infants with BPD [155.2 (15.3-545.6) U/mL] than they were in infants without BPD [7.9 (7.7-15.6) U/mL] (P = 0.001). The best predictor was KL-6 levels on postnatal day 14 (area under the ROC curve = 0.88; range 0.75-1.0; P = 0.002). At this point, KL-6 level of 59.7 U/mL showed a specificity of 90.0% and negative predictive value of 85.7% for BPD. CONCLUSION: High plasma KL-6 levels on postnatal day 14 in premature infants may predict the development of BPD.

Umbilical cord asymmetric dimethylarginine levels and ultrasound assessment of carotid arteries in neonates born small for gestational age.

BACKGROUND: To examine asymmetric dimethylarginine (ADMA) level as an endothelial function parameter in addition to ultrasonographic evaluation of carotid arteries in babies born small for gestational age (SGA). METHODS: Twenty-six neonates born SGA and 34 appropriate for gestational age (AGA) controls were included in the study. The serum levels of ADMA were measured. Intima-media thickness (cIMT) and resistive index (cRI) of the both carotid arteries were determined by ultrasonography. RESULTS: The mean ADMA level was higher in SGA neonates compared to AGAs (16 267.7 ± 6050 versus 12 810.2 ± 3302 ng/L; p = 0.01). The mean cIMT (0.34 ± 0.02 versus 0.31 ± 0.03 mm; p = 0.001) and cRI (0.66 ± 0.07 versus 0.61 ± 0.04, p = 0.003) were also higher in SGAs. Serum ADMA levels were positively correlated to the mean cIMT (r = 0.41, p = 0.001). Although there was a weak correlation between cIMT and mean cRI (r = 0.26, p = 0.04), no correlation was found between ADMA and mean cRI (r = 0.17, p = 0.18). CONCLUSIONS: Neonates born SGA have elevated cord blood ADMA level in addition to thicker IMT and higher RI of carotid arteries at birth. ADMA was correlated to cIMT, suggesting that higher ADMA levels might influence vascular health in later life in these neonates.

Topotecan treatment and its toxic effects on hematologic parameters and trace elements.

The aim of this study was to investigate the effects of topotecan, a topoisomerase I-inhibiting anticancer agent, on hematologic parameters and serum levels of trace elements. The study was conducted on three groups consisting of 16 and 18 rabbits in the study groups and 15 rabbits in the control group. Rabbits in group I (n = 16) received high-dose topotecan intravenously (i.v.; 0.5 mg/kg once daily), while rabbits in group II (n = 18) received low-dose topotecan i.v. (0.25 mg/kg once daily) for 3 days. The 15 rabbits comprising the control group did not receive topotecan. Serum samples were collected from each rabbit on the first day, before the treatment, and on the 15th day of treatment. Erythrocytes, hemoglobin, white blood cell count, thrombocyte count, and trace elements such as selenium, copper, lead, zinc, and cobalt were analyzed. Hemoglobin levels and erythrocyte counts were lower in both study groups than in the control group. However, thrombocyte and leukocyte counts were similar in all three groups (p > 0.005). Serum trace element levels (copper, lead, zinc, and cobalt) did not differ significantly between groups. However, serum selenium levels were significantly lower in both study groups than the control group (p < 0.001). The results revealed that topotecan treatment causes a decrease in erythrocyte counts and hemoglobin levels due to bone marrow suppression, and these effects must be taken into account during treatment. In addition, selenium supplementation might be helpful in cancer patients receiving topotecan to increase the effect of the chemotherapeutic agent.