Risk Factors and Clinical Characteristics of Metabolic Bone Disease of Prematurity.

OBJECTIVE: The study aimed to analyze the risk factors and clinical features of metabolic bone disease of prematurity (MBDP) in premature infants compared with infants of similar gestational age and birth weight without MBDP. STUDY DESIGN: This retrospective case-control study was performed by comparing 81 cases of MBDP with 63 controls to identify potential risk factors. Premature infants with a gestational age ≤33 weeks and birth weight <1,500 g were included. Medical records were examined in terms of maternal conditions, potential risk factors, and clinical characteristics. RESULTS: Bone fractures and invasive ventilator dependence were the most common clinical features of MBDP. Duration of invasive ventilation and total mechanical ventilation days, necrotizing enterocolitis, corticosteroid use, anticonvulsive drug use, duration of dexamethasone and caffeine use, total parenteral nutrition, and length of hospitalization were significantly higher in neonates with MBDP (p < 0.05). Breastfed neonates and those receiving human milk fortifier had a lower incidence of MBDP than those premature formula or mixed feeding (p < 0.05). Anticonvulsive drug use (odds ratio: 2.935; 95% confidence interval: 1.265-6.810) was identified as a risk factor for MBDP at multiple regression analysis. CONCLUSION: Our results show that anticonvulsive drug use is a significant risk factor for the development of MBDP. If long-term use is not required, anticonvulsive drugs should be stopped as soon as possible. Further studies involving patients with MBDP are required to determine the risk factors and clinical features. KEY POINTS: · MBDP is a multifactorial disorder.. · Anticonvulsive drug use is an important risk factor for the development of MBDP.. · Bone fractures and invasive ventilator dependence are the most common clinical features of MBDP..

Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.

Patients with primary hemophagocytic lymphohistiocytosis may present with different mutations and phenotypic findings. It is usually presented as case reports because of its rare occurrence. Here, we discuss a case diagnosed with familial hemophagocytic lymphohistiocytosis 3, that presented in the neonatal period and was detected to have homozygous UNC13D and heterozygous STX11 mutations.

Prenatal and Postnatal Management of Intrauterine Pleural Effusions Associated with Nonimmune Hydrops Fetalis.

OBJECTIVE: Nonimmune hydrops fetalis (NIHF) is defined as the accumulation of excess fluid in two or more body cavities in the fetus without blood incompatibility between mother and baby. We aimed to present our prenatal and postnatal management of intrauterine pleural effusions associated with NIHF. STUDY DESIGN: A total of 60 patients diagnosed with NIHF with intrauterine pleural effusion were analyzed retrospectively. Gestational age of delivery or fetal demise, the intrauterine treatment procedure including extrauterine intrapartum treatment (EXIT), chest tube, and medical treatment methods in fetuses with chylothorax analyzed. RESULTS: Thirty-nine patients (65%) were born alive between 26 and 38 weeks. A thoracoamniotic shunt was placed in one patient during the intrauterine period. Seven patients were placed bilaterally during the postnatal period, all without the umbilical cord being clamped during delivery. But 25 patients died within the first few days following birth. A total of four patients had chylothorax. Two patients who did not respond to medical treatment (somatostatin) were injected with thoracic local batticon and cured. A total of 14 patients were discharged with healing. CONCLUSION: Cases of progressive prenatal pleural effusions associated with NIHF have a high risk for fetal and neonatal death. We think that extreme prematurity increases postnatal mortality because it negatively affects the development of the lung and heart. A close obstetric follow-up and a multidisciplinary approach are required for the management to be selected.

Amitriptyline Intoxication in Children: Twenty Years' Experience in a Tertiary Care Center in Turkey.

BACKGROUND: Amitriptyline ingestion is an important cause of poisoning morbidity and mortality in Turkey and other countries. In contrast to adults, data concerning amitriptyline intoxication in children are limited. The purpose of this study was to investigate amitriptyline intoxication findings in the pediatric population, based on age groups and reported dosages. METHODS: The medical records of 192 patients admitted to the Karadeniz Technical University Medical Faculty Farabi Hospital Pediatric Emergency Department, Turkey, due to amitriptyline intoxication in 1997-2017 were examined retrospectively. Patients were divided into 6 groups based on amitriptyline doses and 4 groups based on age. Complete blood count, blood glucose, serum electrolytes, renal and liver function tests, coagulation tests (prothrombin time and partial thromboplastin time), and blood gas analysis were studied in all patients. Electrocardiography was performed on all children, and chest radiography and electroencephalography on those with respiratory or central nervous system symptoms. RESULTS: Amitriptyline intoxication was most frequently observed between the ages of 1 and 4 years. The most common signs and symptoms observed at time of hospital admission were lethargy and drowsiness (45.3%), sinus tachycardia (19.2%), and nausea and vomiting (13%). The most common laboratory finding was hyperglycemia (17.7). Six patients were intubated because of respiratory failure, and mechanical ventilation was initiated in these cases. One patient with amitriptyline overdose had persistent supraventricular tachycardia. Four children died due to amitriptyline intoxication. CONCLUSIONS: Tricyclic antidepressant intoxication is a leading cause of mortality and morbidity in children. It is therefore particularly important to identify the clinical and laboratory findings that develop with high-dose consumption.

Preventive Effects of Probiotic Supplementation on Neonatal Hyperbilirubinemia Caused by Isoimmunization.

OBJECTIVE: Probiotic supplementation can help to improve recovery from jaundice by reducing enterohepatic circulation through the regulation of intestinal microbial flora. The aim of our study was to investigate the effect of probiotic supplementation on neonatal hyperbilirubinemia caused by isoimmunization alone. STUDY DESIGN: Sixty neonates were randomly divided into a placebo group and a probiotic group (Lactobacillus rhamnosus GG). Serum total bilirubin (STB) levels were measured at birth and at 4, 8, 16, 24, and 36 hours of treatment (and at 48, 60, and 72 hours if necessary). Duration of phototherapy, rephototherapy requirements, and daily meconium evacuation were recorded. RESULTS: STB and rebound STB levels at 36 hours were lower in the probiotic group than in the placebo group (p = 0.01 and p = 0.006, respectively). Meconium evacuation was more frequent in the probiotic group than in the placebo group on the second and third days of life (p = 0.002 and 0.009, respectively). CONCLUSION: Probiotics do not affect STB levels in the first 24 hours of life or duration of phototherapy in neonates with jaundice caused by blood group incompatibility. The effect of probiotic supplementation by reducing enterohepatic circulation occurs at 36 hours of life in newborns with isoimmunization.

An Acute Complication of Ventriculoperitoneal Shunt with Bladder Perforation and Extrusion through the Urethra in a Newborn: Case Report and Review of the Literature.

Ventriculoperitoneal shunt (VPS) surgery is a standard procedure for the management of hydrocephalus. Bladder perforation is an extremely rare complication of VPS surgery. Herein, we present for the first time an acute complication of VPS with bladder perforation and extrusion through the urethra in a newborn. We also reviewed the complication of VPS with bladder perforation as reported in the literature.

Is obesity related to worse control in children with asthma?

INTRODUCTION: Asthma and obesity are related diseases however the influence of obesity on asthma severity is not clear yet. Therefore, the aim of our study was to evaluate the association between obesity and asthma control evaluated on the basis of symptoms and asthma control questionnaire (ACQ). MATERIALS AND METHODS: We enrolled 98 children with asthma aged 4 to 14 years consecutively and recorded their disease characteristics and severity parameters as well as the symptom scores. All children filled in the ACQ. Children were classified as obese and non-obese according to body mass index. Obesity was defined as body mass index over 90th percentile. RESULTS: Mean age of the children in the obese group (n= 27) was 8.1 ± 2.6 while that in the non-obese group (n= 71) was 8.6 ± 2.9 (p= 0.41). Asthma symptom score in obese and non-obese groups were not significantly different (p= 0.73). Children in the obese group had lower ACQ scores when compared to the non-obese group (1.2 ± 0.9 vs 1.7 ± 1.0, p= 0.04) however this significance was lost when controlled for age and gender in the regression model. CONCLUSION: The results of this study suggest that obesity is not significantly associated with worse asthma control when adjusted for age and gender.

Extremely rare cause of hyperkalemia: ileostomy‒induced hyperkalemia in extremely low birth weight infants.

BACKGROUND: Hyperkalemia is one of the most serious electrolyte disturbances, and it can cause lethal cardiac arrhythmia. Although hyperkalemia associated with ileostomies has been reported in adults, to the best of our knowledge, it has not previously been reported in neonates. CASE: We report ileostomy‒induced hyperkalemia that persisted during the ileostomy and resolved promptly after the closure of the ileostomy in two extremely low birth weight (ELBW) infants, with birth weights of 850 g and 840 g and gestational ages of 27 weeks and 27 weeks 6 days. CONCLUSIONS: These cases highlight that disruption of intestinal integrity in ELBW infants may cause hyperkalemia. Ensuring the integrity of the gastrointestinal tract plays an important role in the treatment of electrolyte disorders such as hyperkalemia in ELBW infants with an ileostomy.

An observational, multicenter, registry-based cohort study of Turkish Neonatal Society in neonates with Hypoxic ischemic encephalopathy.

BACKGROUND: Hypoxic ischemic encephalopathy (HIE) is a significant cause of mortality and short- and long-term morbidities. Therapeutic hypothermia (TH) has been shown to be the standard care for HIE of infants ≥36 weeks gestational age (GA), as it has been demonstrated to reduce the rates of mortality, and adverse neurodevelopmental outcomes. This study aims to determine the incidence of HIE in our country, to assess the TH management in infants with HIE, and present short-term outcomes of these infants. METHODS: The Turkish Hypoxic Ischemic Encephalopathy Online Registry database was established for this multicenter, prospective, observational, nationally-based cohort study to evaluate the data of infants born at ≥34 weeks GA who displayed evidence of neonatal encephalopathy (NE) between March, 2020 and April 2022. RESULTS: The incidence of HIE among infants born at ≥36 weeks GA (n = 965) was 2.13 per 1000 live births (517:242440), and accounting for 1.55% (965:62062) of all neonatal intensive care unit admissions. The rates of mild, moderate and severe HIE were 25.5% (n = 246), 58.9% (n = 568), and 15.6% (n = 151), respectively. Infants with severe HIE had higher rates of abnormal magnetic resonance imaging (MRI) findings, and mortality (p<0.001). No significant difference in mortality and abnormal MRI results was found according to the time of TH initiation (<3 h, 3-6 h and >6 h) (p>0.05). TH was administered to 85 (34.5%) infants with mild HIE, and of those born of 34-35 weeks of GA, 67.4% (n = 31) received TH. A total of 58 (6%) deaths were reported with a higher mortality rate in infants born at 34-35 weeks of GA (OR 3.941, 95% Cl 1.446-10.7422, p = 0.007). CONCLUSION: The incidence of HIE remained similar over time with a reduction in mortality rate. The timing of TH initiation, whether <3 or 3-6 h, did not result in lower occurrences of brain lesions on MRI or mortality. An increasing number of infants with mild HIE and late preterm infants with HIE are receiving TH; however, the indications for TH require further clarification. Longer follow-up studies are necessary for this vulnerable population.

Neonatal Resuscitation Practices in Turkey: A Survey of the Turkish Neonatal Society and the Union of European Neonatal and Perinatal Societies.

OBJECTIVE: Optimal care in the delivery room is important to decrease neonatal morbidity and mortality. We aimed to evaluate neonatal resuscitation practices in Turkish centers. MATERIALS AND METHODS: A cross-sectional survey consisted of a 91-item questionnaire focused on delivery room practices in neonatal resuscitation and was sent to 50 Turkish centers. Hospitals with <2500 and those with ≥2500 births/year were compared. RESULTS: In 2018, approximately 240 000 births occurred at participating hospitals with a median of 2630 births/year. Participating hospitals were able to provide nasal continuous-positiveairway-pressure/high-flow nasal cannula, mechanical ventilation, high-frequency oscillatory ventilation, inhaled nitric oxide, and therapeutic hypothermia similarly. Antenatal counseling was routinely performed on parents at 56% of all centers. A resuscitation team was present at 72% of deliveries. Umbilical cord management for both term and preterm infants was similar between centers. The rate of delayed cord clamping was approximately 60% in term and late preterm infants. Thermal management for preterm infants (<32 weeks) was similar. Hospitals had appropriate equipment with similar rates of interventions and management, except conti nuous-positive-airway-pressure and positive-end-expiratory-pressure levels (cmH2O) used in preterm infants (P = .021, and P = .032). Ethical and educational aspects were also similar. CONCLUSIONS: This survey provided information on neonatal resuscitation practices in a sample of hospitals from all regions of Turkey and allowed us to see weaknesses in some fields. Although adherence to the guidelines was high among centers, further implementations are required in the areas of antenatal counseling, cord management, and circulation assessment in the delivery room.

A dangerous causative microorganism of early onset neonatal sepsis: Stenotrophomonas maltophilia. Two case reports and a review of the literature.

Stenotrophomonas maltophilia (S. maltophilia) is an important aerobic, non-fermentative, Gram-negative, multidrug resistant organism. Although this microorganism is frequently reported as a causative agent of nosocomial infections in neonatal intensive care unit, a few cases were reported about as a causative microorganism of early-onset neonatal sepsis (EONS). We report two cases with EONS caused by S. maltophilia and also, we reviewed the EONS reported caused by S. maltophilia.

Diagnostic yield of upper gastrointestinal endoscopy in the evaluation of iron deficiency anemia in older children and adolescents.

Iron deficiency anemia (IDA) is frequent in childhood. Inadequate nutrition and gastrointestinal malabsorption are the frequent causes of IDA in children. But reduced iron absorption and insidious blood loss from the gastrointestinal tract has been identified as the most frequent causes of IDA in older children and adolescents. Therefore the authors evaluated the frequency and etiologies of the upper gastrointestinal system pathologies causing IDA in older pediatric population. Patients with known hematological or chronic diseases, heavy menstrual flow, and obvious blood loss were excluded from the study. Forty-four children between the ages of 9.5 and 17.5 years and diagnosed with IDA were enrolled. They underwent upper gastrointestinal endoscopy and biopsy from esophagus, stomach, and duodenum. Mean age and hemoglobin (Hb) levels of study group (32 boys, and 12 girls) were 14.6 ± 2.0 years and 7.9 ± 1.8 g/dL, respectively. Only 1 patient had a positive serology testing with anti-tissue transglutaminase and small bowel biopsy correlating with celiac disease. Endoscopy revealed abnormal findings in 25 (56.8%) patients (21 endoscopic antral gastritis, 2 active duodenal ulcers, and 2 duodenal polyps). Helicobacter pylori (HP) infection was identified by using antral histopathological evaluation in 19 of 44 children (43.2%). In 2 of duodenal samples, one patient had celiac disease, and the other one was diagnosed as giardiasis. In conclusion, there are different etiologies resulting in IDA in older children and adolescents. When older children and adolescents are found to have iron deficiency, HP infection and other gastrointestinal pathologies should be ruled out before iron deficiency treatment.

Vitamin D Deficiency Prevalence in Late Neonatal Hypocalcemia: A Multicenter Study

Objective: Late neonatal hypocalcemia (LNH) is a common metabolic problem associated with hypoparathyroidism, high phosphate intake and vitamin D deficiency, often presenting with seizures. In this cross-sectional study, we aimed to evaluate the role of vitamin D deficiency in LNH in Turkey and to describe the characteristics of affected newborns. Methods: Conducted with a cross-sectional design and with the participation of 61 neonatal centers from December 2015 to December 2016, the study included term neonates with LNH (n=96) and their mothers (n=93). Data were registered on the FAVOR Web Registry System. Serum samples of newborns and mothers were analyzed for calcium, phosphate, magnesium, albumin, alkaline phosphatase, intact parathyroid hormone (iPTH) and 25 hydroxyvitamin D [25(OH)D] levels. Results: The median (range) onset time of hypocalcemia was 5.0 (4.0-8.0) days of age, with a male preponderance (60.4%). The median (range) serum 25(OH)D levels of the neonates and their mothers were 6.3 (4.1-9.05) and 5.2 (4.7-8.8) ng/mL, respectively. The prevalence of vitamin D deficiency (<12 ng/mL) was high in both the neonates (86.5%) and mothers (93%). Serum 25(OH)D levels of the infants and mothers showed a strong correlation (p<0.001). While the majority (93.7%) of the neonates had normal/high phosphorus levels, iPTH levels were low or inappropriately normal in 54.2% of the patients. Conclusion: Vitamin D deficiency prevalence was found to be high in LNH. Efforts to provide vitamin D supplementation during pregnancy should be encouraged. Evaluation of vitamin D status should be included in the workup of LNH.

Changing trend of microbiologic profile and antibiotic susceptibility of the microorganisms isolated in the neonatal nosocomial sepsis: a 14 years analysis.

Objective: Neonatal sepsis, especially nosocomial sepsis (NS) is one of the main causes of mortality and morbidity in neonates. Our aim was to investigate microorganisms responsible for NS and antimicrobial susceptibility patterns and to compare them in a different period.Methods: Blood culture registers from the Microbiology Laboratory were reviewed for the study population. The neonates with proven NS were enrolled in the study. Microorganisms responsible for NS and antimicrobial susceptibility patterns were recordedResults: The incidence of Gram-positive, Gram-negative, and fungal microorganisms were 61.6% (n = 570), 27.1% (n = 251) and 11.3% (n = 104), respectively. The most common isolated Gram-positive, Gram-negative pathogens and fungi were Coagulase-negative staphylococci (CoNS), Klebsiella pneumoniae, and C. guilliermondii. There was an increasing resistance rate among common nosocomial pathogens especially oxacillin resistant CoNS strains and increasing rate for extended-spectrum beta-lactamase (ESBL) positive microorganisms. Low susceptibility was detected to commonly used antibiotics for empirical treatment in neonatal sepsis.Conclusions: Our result showed that multiresistant microorganisms, especially oxacillin-resistant staphylococci and gram-negative bacilli resistant to cephalosporin have an increasing rate. Every unit should evaluate the causative agents and antimicrobial susceptibilities in order to select an appropriate regime for nosocomial sepsis. Periodic surveillance of organisms and their antibiotic resistance patterns in every unit might help physicians for proper selection of antibiotics for treatment of neonatal NS.

Reference intervals for serum 17α-hydroxyprogesterone and ultrasonographic adrenal gland sizes in healthy newborns.

Background and objectives: Serum 17α- hydroxyprogesterone (17OHP) and bilateral adrenal sizes are pivotal for clinical practice in both diagnosis and treatment of congenital adrenal disorders during the first month of life. Our aims were to determine the reference ranges for serum 17OHP and bilateral adrenal gland sizes according to sex and age groups in healthy term newborns.Materials and methods: A total of 156 healthy newborns, aged 4-7 days (Group 1) or 26-30 days old (Group 2) were included in the study. Serum 17OHP concentration was measured in the morning by radioimmunoassay. The right and left adrenal glands' width, length, and depth were measured with ultrasonography by the same radiologist and the volumes were calculated.Results: The clinical characteristics and serum 17OHP concentrations were similar in male and female newborns. Percentiles for serum 17OHP concentration and the volume of adrenal glands according to age groups and sexes were obtained. Mean 17OHP concentration was 4.67 ± 2.6 ng/ml and 4.49 ± 2.7 ng/ml at the first and fourth week of life, respectively (p > .05). There was a significant decrease in adrenal sizes during the fourth week of life. There was no significant correlation between serum 17OHP concentration and adrenal gland sizes.Conclusions: We have determined reference intervals for serum 17OHP concentration and bilateral adrenal gland sizes for healthy newborns. Although serum concentrations of 17OHP did not change significantly through the first month of life, our reference intervals for serum 17OHP concentration and adrenal sizes may improve clinical approach toward newborns who are suspected of adrenal disorder. We conclude that our reference intervals can guide for congenital adrenal screening regarding serum 17OHP concentration besides diagnosis of adrenal hypoplasia or hyperplasia with ultrasonographic adrenal gland sizes.

Sedoanalgesia modality during laser photocoagulation for retinopathy of prematurity: Intraoperative complications and early postoperative follow-up.

BACKGROUND: Laser photocoagulation (LPC) is a surgical procedure used in the treatment of premature retinopathy that may cause retinal detachment and blindness if not diagnosed and treated early. The anesthesia method used in LPC varies from sedoanalgesia to general anesthesia and airway management varies from spontaneous ventilation to endotracheal intubation. In this study, we aimed to evaluate the effectiveness of sedoanalgesia applications and this anesthesia procedure concerning intraoperative and postoperative complications by avoiding intubation and mechanical ventilation in premature infants with a fragile population. METHODS: This retrospective study included 89 patients who underwent laser photocoagulation under anesthesia for premature retinopathy. Patients' demographic characteristics, preoperative risk factors, anesthesia technique, especially airway management, changes in ventilation status during surgery, intraoperative complications, postoperative complications, and intensive care follow-up, were recorded and analyzed statistically. RESULTS: Two of the 89 patients who underwent laser photocoagulation were excluded from this study because they were followed up intubated. The number of patients who received mask ventilation due to intraoperative complications was 12 (13.8%). The mean operation time was 36.2±10.1 minutes. In 86.2% (n=75) of the patients, the surgical procedure was completed with sedoanalgesia while maintaining spontaneous ventilation. CONCLUSION: Sedoanalgesia application during the surgical intervention of patients with Retinopathy of Prematurity (ROP) requiring early diagnosis and emergency treatment will minimize intraoperative and postoperative complications. We believe that sedoanalgesia as an anesthetic method can be applied as an effective alternative method while preserving spontaneous ventilation.

Clinical signs and symptoms of toxic serum digoxin levels in neonates.

Mutlu M, Aslan Y, Kader S, Aktürk-Acar F, Dilber E. Clinical signs and symptoms of toxic serum digoxin levels in neonates. Turk J Pediatr 2019; 61: 244-249. Digoxin is widely used in the treatment of congestive heart failure and some arrhythmias. Digoxin toxicity may occur easily because digoxin has a narrow therapeutic index. This retrospective study was conducted to evaluate the clinical signs and symptoms of toxic serum digoxin levels in neonates. Medical reports of the neonates who had serum digoxin concentrations > 2 nanogram/milliliter (ng/ml) were reviewed in terms of patient demographics, serum digoxin concentrations, signs and symptoms of digoxin toxicity, serum digoxin and electrolyte levels, renal function tests, electrocardiograms, echocardiography, and treatments applied. Digoxin toxic levels were identified in the 13 neonates. Of the 13 neonates with digoxin toxic level, 9 (69%) were term and 8 (62%) were female. Twenty-three percent (3/13) of newborn infants were symptomatic. Symptomatic patients had statistically significantly higher serum digoxin levels, at 7.76±2.76 (5.4-10.8) ng/ml, than asymptomatic patients, at 3.31±1.09 (2.02-4.95) (p=0.036). Symptoms related to toxic digoxin levels were observed in the three neonates with plasma digoxin levels > 5 ng/ml. Gastrointestinal and central nervous system symptoms were the major clinic findings. Despite high digoxin levels, no digoxin-related arrhythmia was observed on electrocardiography, other than sinus bradycardia. Two premature neonates were treated with digoxin-specific antibody Fab fragments (DigiFab®) and hypokalemia developed in both of them. Our data suggests that symptoms related with digoxin toxic levels were observed in neonates with plasma digoxin levels > 5 ng/ml. Serum digoxin levels should be measured in case of signs and symptoms of digoxin toxicity or risk factors for such toxicity.

Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene.

Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the SLC12A1 gene, c.596G>A (p.R199H).

Effects of Lactobacillus rhamnosus GG as a probiotic on neonatal hyperbilirubinemia.

Mutlu M, Irmak E, Aslan Y, Kader S. Effects of Lactobacillus rhamnosus GG as a probiotic on neonatal hyperbilirubinemia. Turk J Pediatr 2018; 60: 482-487. Undeveloped intestinal microflora and increased enterohepatic circulation of the newborn contribute to increase of plasma bilirubin level in the first days of life. This study was undertaken to determine the role of probiotic support started immediately after birth on neonatal hyperbilirubinemia in babies born by normal spontaneous vaginal delivery and breastfed only. A total of 150 healthy term newborns were included in the study and allocated in the study and control groups. Immediately after birth, newborns in the study group received probiotic in liquid drop form (Maflor® drops containing Lactobacillus Rhamnosus GG 109 colony forming units, Mamsel Ilac, Turkey), at a dose of 5 drops a day, orally for 10 days. Newborns in the control group received 5 drops of saline solution per day orally, instead. Serum bilirubin levels (cord, 3rd, 5th and 10th days of life) and defecation frequency were recorded. Mean total bilirubin levels on the 3rd, 5th and 10th days were significantly lower and mean defecation frequency was significantly higher in the probiotic group compared to the controls (p < 0.05 for each). Negative correlations were determined between defecation frequency and the 3rd, 5th and 10th day-total bilirubin levels (r=-0.804, p < 0.001; r=-0.818, p < 0.001; r=-0.648, p < 0.001, respectively). Probiotic (Lactobacillus rhamnosus GG) support initiated immediately after birth has a positive effect on bilirubin metabolism and may reduce the risk of hyperbilirubinemia.

Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate.

OBJECTIVE: Herein, a neonate with congenital FVII deficiency is presented. BASIC METHOD: Diagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina). RESULT: Our patient was found to have a novel homozygous mutation. CONCLUSION: Early diagnosis and treatment of congenital FVII deficiency can be crucial.