Peritoneal dialysis for term neonates in a neonatal intensive care unit.

BACKGROUND: This study aimed to evaluate the indications, complications, and outcomes of peritoneal dialysis (PD) in term neonates from a state hospital. METHODS: The demographic, clinical, and laboratory data of 67 newborn term infants who underwent PD within the first 4 weeks of life between June 2014 and June 2019 were retrospectively analyzed. RESULTS: Twenty-five patients (37.3%) were male, 42 (63.7%) were female. The mean gestational age was 38.3 ± 0.8 (range: 37-40) weeks and mean birthweight 3,100 ± 504.9 g (range: 1,800-5,000 g). The mean age of patients at the start of dialysis was 7.97 ± 8.34 days (range:1-44 days) and the mean duration for dialysis was 3 ± 5.42 days (range 1-40 days). The majority of patients who underwent PD had inborn error of metabolism (59.7%). The most common complication was dialysate leakage. Thirty-three neonates (49.2%) died during PD process because of underlying disease, 17 patients (25.4%) were referred to other centers, and 17 patients (25.4%) were discharged. There were seven acute kidney injury patients associated with hypernatremic dehydration. There were statistically significant differences between non-survivors and survivors in terms of dialysis duration, birthweight, weight at admission, requirements for mechanical ventilation, and inotrop agent, and also the renal angina index. CONCLUSIONS: In our region, hypernatremic dehydration is still a one of the major cause for acute kidney injury (AKI) in newborns. In state hospitals, pediatric specialists must be present in neonatal intensive care units in order not to refer unstable patients to other centers and to provide high-quality patient care.

Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.

BACKGROUND: Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal period after the neonate is fed with milk that contains galactose. Most patients are presented with jaundice, hepatomegaly, hypoglycemia and cataracts. OBJECTIVE: We aimed to document the clinical, molecular characteristics, regional estimated incidence and time of diagnosis in newborn with CG. MATERIALS AND METHOD: The data of 63 newborn with CG who were diagnosed and followed up between January 2011 and January 2018 were analyzed retrospectively. RESULTS: During the study period, 63 (33 boys and 30 girls) newborns were diagnosed with CG. The median gestational age was 39 weeks (33-42). Major presenting symptoms were jaundice 90.5% and cataract 41.2%. The mean age at first symptom was 12 ± 7.4 days while the mean age at diagnosis was 18.9 ± 10.6 days. Nearly half of the patients (55.5%) were diagnosed later than the postnatal 15th day. Genetic analysis was performed on 56 patients and homozygous Q188R mutation was found in 92.8%. There were signs of sepsis in 33.3% of the cases. Six patients died due to sepsis. There was consanguinity in 84.1% of the parents and regional estimated incidence was calculated as 1 in 6103 live births. CONCLUSION: Q188R mutation was found in 92.8% of our cases. The regional estimated incidence was found as 1 in 6103 live births. Our study strongly supports that galactosemia should be included in the national newborn screening program.

Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism.

Several recent studies have reported that toxic metabolites accumulated in the body as a product of inborn errors of metabolism (IEM) are eliminated more rapidly with continuous venovenous hemodiafiltration (CVVHDF) than with peritoneal dialysis (PD). However, there is still uncertainty about the impacts of dialysis modalities on the short-term outcome. Here, it was aimed to investigate the effects of dialysis modalities on the short-term outcome. This retrospective study included 40 newborn infants who underwent PD (29 patients) or CVVHDF (11 patients) due to inborn errors of metabolism at a tertiary centre, between June 2013 and March 2018. The outcomes and the potential effects of the dialysis modality were evaluated. Of 40 patients, 21 were urea cycle defect, 14 were organic academia, and 5 were maple syrup urine disease. The median 50% reduction time of toxic metabolites were shorter in patients treated with CVVHDF (p < 0.05). Catheter blockage was the most common complication observed in PD group (24.1%), whereas in CVVHDF group hypotension and filter blockage were more common. There was no significant difference in mortality between dialysis groups (38% vs. 45.4%, p > 0.05). In patients with hyperammonaemia, duration of plasma ammonia > 200 µg/dL was the most important factor influencing mortality (OR 1.05, CI 1.01-1.09, p = 0.007).Conclusion: This study showed that CVVHDF is more efficient than PD to rapidly eliminate toxic metabolites caused by IEM in newborn infants, but not in improving survival. What is Known: •Toxic metabolites are eliminated more rapidly with CVVHDF than with PD. •Higher complication rates were reported with rigid peritoneal catheters in PD and catheter blockage in CVVHDF. What is New: •Prolonged duration of plasma ammonia levels above a safe limit (200 µg/dL) was associated with increased mortality. •Lower catheter-related complication rates may have been associated with the use of Tenckhoff catheters in PD and the use of right internal jugular vein in CVVHDF.

Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia.

AIM: Newborns with inborn errors of metabolism can present with hyperammonaemic coma. In this study, we evaluated the effect of peritoneal dialysis on plasma ammonium levels and on the short-term outcome in neonatal patients with urea cycle defects and organic acidaemia. METHODS: Data from infants with hyperammonaemia due to urea cycle defects or organic acidaemia treated with dialysis were collected and retrospectively analyzed. The results of patient groups (group I, survived; and group II, died) were compared. RESULTS: Fourteen neonates were enrolled in this study. In group I, plasma ammonium levels before dialysis were median (IQR) 1652 µg/dL (1165-2098 µg/dL); in group II, they were 1289 µg/dL (1070-5550 µg/dL). There was no statistically significant difference. Urea cycle defects were diagnosed in eight, and organic acidaemia in six patients. The duration of a blood ammonia level >200 µg/dL was longer in group II (P = 0.04). A <60.8% decline in the ammonia level from the beginning of dialysis to the 12th hour of dialysis carried a 3.33-fold higher risk of mortality, when compared with a greater decline. Five patients with urea cycle defects, and one with organic acidaemia, died. The mortality risk was 8.33-fold (95% CI = 0.63-90.86) higher for patients with urea cycle defects than for those with organic acidaemia. CONCLUSION: In patients with hyperammonaemia treated with peritoneal dialysis, the rate of ammonia removal and the underlying aetiology appear to be important prognostic factors. Neonates with organic acidaemia who are admitted to centres without continuous renal replacement therapy facilities can be effectively treated with peritoneal dialysis.

Comparison of Early Nasal Intermittent Positive Pressure Ventilation and Nasal Continuous Positive Airway Pressure in Preterm Infants with Respiratory Distress Syndrome.

AIMS: To compare the effect of early nasal intermittent positive pressure ventilation (nIPPV) and nasal continuous positive airway pressure (nCPAP) in terms of the need for endotracheal ventilation in the treatment of respiratory distress syndrome (RDS) in preterm infants born between 24 and 32 gestational weeks. METHODS: This is a randomized, controlled, prospective, single-centered study. Forty-two infants were randomized to nIPPV and 42 comparable infants to nCPAP (birth weight 1356 ± 295 and 1359 ± 246 g and gestational age 29.2 ± 1.7 and 29.4 ± 1.5 weeks, respectively). RESULTS: The need for endotracheal intubation and invasive mechanical ventilation was significantly lower in the nIPPV group than the nCPAP group (11.9% and 40.5%, respectively, p < 0.05). There were no differences in the duration of total nasal respiratory support, duration of invasive mechanical ventilation, bronchopulmonary dysplasia or other early morbidities. CONCLUSION: nIPPV compared with nCPAP reduced the need for endotracheal intubation and invasive mechanical ventilation in premature infants with RDS.

A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.

Johanson-Blizzard Syndrome (JBS) was first described by Johanson and Blizzard. It exhibits autosomal recessive inheritance and is characterized by mutation in the UBR1 gene on the long arm of Chromosome 15. The phenotypic features as well as diarrhoea that occurs due to the exocrine pancreatic insufficiency constitute the main clinical symptoms. This article discusses Johanson-Blizzard Syndrome due to the case followed-up by us with the symptoms of deafness and diarrhoea as well as typical facial appearance.

Comparison of anti-D immunoglobulin, methylprednisolone, or intravenous immunoglobulin therapy in newly diagnosed pediatric immune thrombocytopenic purpura.

This study aimed to evaluate the efficacy, cost, and effects of anti-D immunoglobulin (anti-D Ig), methylprednisolone, or intravenous immunoglobulin (IVIG) therapy on the development of chronic disease in children who are Rh-positive with diagnosed immune thrombocytopenic purpura (ITP). Children with newly diagnosed ITP and platelet count <20,000/mm(3) were prospectively randomized to treatment with anti-D Ig (50 µg/kg), methylprednisolone (2 mg/kg/day), or IVIG (0.4 g/kg/day, 5 days). Sixty children with a mean age of 6.7 years were divided into three equal groups. No difference was observed between platelet counts before treatment and on day 3 of treatment. However, platelet counts at day 7 were lower in the methylprednisolone group than in the IVIG group (P = 0.03). In the anti-D Ig group, hemoglobin and hematocrit levels were significantly lower at the end of treatment (P < 0.05). Chronic ITP developed in 30% of the anti-D Ig group, 35% of the methylprednisolone group, and 25% of the IVIG group, but no significant difference was noted among the groups. The cost analysis revealed that the mean cost of IVIG was 7.4 times higher than anti-D Ig and 10.9 times higher than methylprednisolone. In the treatment of ITP in childhood, one 50 µg/kg dose of anti-D Ig has similar effects to IVIG and methylprednisolone. Among patients who were treated with anti-D Ig, serious anemia was not observed, and the cost of treatment was less than that of IVIG treatment.

Continuous veno-venous hemodiafiltration in neonates with maple syrup urine disease.

INTRODUCTION: Herein, we aimed to discuss our experience in 16 newborn patients with Maple syrup urine disease (MSUD) who were treated with urgent renal replacement therapy (RRT). METHODS: The patients underwent continuous veno-venous hemodiafiltration (CVVHDF) or peritoneal dialysis (PD) as renal replacement therapy. RESULTS: Eleven (68.75%) patients underwent CVVHDF and five (31.25%) underwent peritoneal dialysis. The median leucine reduction rate per hour was 2.56% (1.75-7.6) in the CVVHDF group, 0.78% (0.54-1.83) in the PD group, and was significantly higher in the CVVHDF group (p = 0.001). Posttreatment plasma leucine levels were found to be 198 (20-721) µmol/L in the CVVHDF group and 600 (250-967) µmol/L in the PD group, and CVVHDF was found to be significantly lower (p = 0.08). Complications such as hypotension, electrolyte imbalance, and filter obstruction occurred in the CVVHDF group. CONCLUSION: This study showed that CVVHDF is more effective than PD for rapidly eliminating elevated leucine levels caused by MSUD in the newborn and it is not associated with increased complication rates.

The long-term impacts of preterm birth and associated morbidities on bone health in preschool children: a prospective cross-sectional study from Turkey.

OBJECTIVE: To evaluate the impact of preterm birth on bone health in preschool children. METHODS: A total of 166 preschool children (aged 7-8 years) born preterm (n = 86, <37-week gestation) and at term (n = 80, ≥37 weeks of gestation) in our hospital were included in this prospective cross-sectional study. Data on antenatal, perinatal, and early postnatal characteristics and maternal obstetric history were obtained from medical records. Bone densitometry data including total bone mineral content (BMC), bone mineral density (BMD; total, lumbar, and femoral), z-scores, and bone loss were collected for each participant. RESULTS: Current height, weight, and BMI values were significantly lower in the preterm group (p < .001). Serum calcium, phosphorus and alkaline phosphatase (ALP) levels did not differ among groups, whereas VitD3 levels were significantly higher in the preterm group (p = .039). The mean total BMC, total BMD, lumbar (L2-L4) BMD, femur BMD, total z-score, and L2-L4 z-score values were significantly lower for the preterm group, whereas the total, lumbar, and femoral bone loss were significantly higher (p < .001), regardless of the severity of prematurity. Intraventricular hemorrhage (IVH) and retinopathy were significantly associated with lower total BMC (p = .004, p = .012, respectively). Fortified breastfeeding was associated with lumbar bone loss (p = .043), and formula feeding was associated with both femur and lumbar bone loss (p = .006, p = .012, respectively). CONCLUSIONS: Our findings revealed long-term adverse effects of preterm birth on bone health, with significantly lower anthropometric values (weight, height, and BMI), lower scores for total BMC, BMD (total, lumbar, femoral), and z-scores (total, femur), along with higher bone loss (total, lumbar, femoral) and higher rates of osteopenia and osteoporosis in preschool children born preterm (whether moderate or very preterm) compared with those born at term. Exclusive breastfeeding appears to reduce the likelihood of long-term bone loss in preterm infants.

Evaluation of Term Newborn Patients With Hypernatremic Dehydration.

AIM: We aimed to evaluate the demographic, clinical, and laboratory findings and the management of newborns with hypernatremic dehydration (HDH). MATERIALS AND METHODS: A total of 85 term newborns with serum sodium (Na) levels higher than 145 mEq/L who admitted to our hospital between January 2011 and December 2018 were included in this study. RESULTS: Among all cases, 54.1% were female infants with the mean birth weight, weight loss ratio, and median age at diagnosis of 3095 ± 540 g, 13.6 ± 10%, and 8 (2-24) days, respectively. The most common presenting complaints were breastfeeding difficulties (90.5%), fever (63.5%), decreased urination (43.5%), jaundice (22.3%), and convulsion (15.3%). The mean sodium and potassium, and median blood urea and creatinine levels on admission were 167.9 ± 13.4 mEq/L, 5.4 ± 2.8 mmol/L, 213 mg/dL (11-476 mg/dL), and 2.4 mg/dL (0.52-9.96 mg/dL), respectively. There was metabolic acidosis in 67% and acute renal failure in 74.4% of patients, while peritoneal dialysis was performed in 12 of them. There was a positive correlation between weight loss ratio and admission age, serum urea, and creatinine levels; there was a negative correlation between weight loss and blood pH. Eight patients died (9.4%). CONCLUSIONS: In our study, serum urea, creatinine, potassium, metabolic acidosis levels, convulsion, and dialysis requirements at the time of admission of the newborns with HDH were found to be higher in those who died compared to those who survived. Convulsion was a presenting complaint, and it was also observed during the 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.

A rare cause of perinatal asphyxia: maternal carbon monoxide poisoning.

Carbon monoxide (CO) intoxication has serious adverse effects to the mother and fetus and a result of intrauterine hypoxia, it leads to fetal death or severe neurological sequelae. In this article, a preterm infant who was acutely exposed to CO at the 33rd weeks of gestation before delivery was presented. The baby was delivered by emergent cesarean section at the 34th weeks of gestation due to findings of fetal distress and he had severe hypoxic ischemic encephalopathy leading to death. Results and treatment modalities of CO poisoning during pregnancy were reviewed.

Antibiotic resistance in childhood urinary tract infections: A single-center experience.

AIM: Urinary tract infections are the most common genitourinary tract disease in children, and inappropriate antibiotic and/or dose selection increase the likelihood of resistance. The aim of this study was to determine the prevalence of urinary tract infection pathogens, patterns of resistance to antibiotics, and empirical treatment options. MATERIAL AND METHODS: Between January 2013 and December 2017, urine culture and antibiogram results of pediatric patients aged 0 days to 16 years were analyzed retrospectively. Antibiotic susceptibilities were determined using disc diffusion according to methods of the Clinical and Laboratory Standards Institute. RESULTS: Of the 1326 children with culture growth, 1070 (80.6%) were female and 256 (19.3%) were male. The most common microorganism found was (1138, 85.8%) E. Coli, followed by Klebsiella spp. (71, 5.3%), Enterobacter spp. (44, 3.3%), and Proteus spp. (28, 2.1%). High frequency of resistance to ampicillin, ampicillin-sulbactam, amoxicillin-clavulanate, cefuroxime axetil, as TMP-SMX was detected in all microorganisms, whereas resistance to amikacin, meropenem, imipenem, ertapenem, fosfomycin, and nitrofurantoin was low. CONCLUSION: E. coli was the most common causative agent of urinary tract infections in childhood. High resistance to ampicillin, ampicillin-sulbactam, amoxicillin-clavulanate, cefuroxime axetil, and TMP-SMX was detected in all agents in our center.

Congenital Syphilis Presenting with Prenatal Bowel Hyperechogenicity and Necrotizing.

Congenital syphilis is a severe disease that arises from the vertical transmission of Treponema pallidum. Clinical findings are related to the pregnancy stage, fetal gestational week, maternal treatment and fetal immunologic response. Prematurity, low birth weight, nonimmune hydrops fetalis, necrotizing enterecolitis, hepatomegaly, skin eruptions, thrombocytopenia, hemolytic anemia and fever can be detected in the symptomatic newborn. Postnatal respiratory insufficiency, hepatomegaly, anemia and thrombocytopenia were detected in a baby who was born at the 29th week of gestation, weighing 1.160 g and followed due to intestinal hyperechogenicity from the second trimester. Her and her mother's Venereal Disease Research Laboratory titers were positive, confirming test Treponema pallidum hemagglutination was reactive. After penicillin was administered for 10 days, anemia, and thrombocytopenia were regressed. In the 15th day of life, findings of perforated necrotising enterocolitis (NEC) suddenly appeared. The operation was performed due to NEC for three times but nonresponsive laboratory and clinical findings and died in the 54th day of life. We assumed that syphilis is the cause of both bowel hyperechogenicity and necrotising enterocolitis.

Cardiac evaluation in children with malnutrition.

AIM: The main purpose of this study was to identify myocardial changes in malnourished children. MATERIAL AND METHODS: This prospective study included 47 patients with malnutrition and 44 healthy controls. The subjects who had malnutrition were classified according to the method of Gomez and Waterlow. Electrocardiographic and echocardiographic examinations, 24-h Holter monitoring, and biochemical assessments were performed in all subjects. RESULTS: The malnutrition group included 20 (42.5%) males, and the control group included 19 (43.1%) males (p<0.05). There was no difference between the malnutrition and control groups with regard to mean age (69.4±57.3 months and 68.9±48.2 months, respectively, p=0.5). Although the left ventricular mass was lower in the patient group compared with the control group, the left ventricular mass index was not different (42.3±24.5 g, 53.4±23.9 g, p=0.049 and 60.7±13.3 g/m2, 61.9±12.1 g/m2, p=0.67, respectively). The left ventricular ejection fraction and fractional shortening were lower in the patient group compared with the control group (66.2±5.3%, 69.2±4.07%, p=0.04 and 35.4±4.2%, 37.9±3.4%, p=0.03, respectively). The myocardial performance index was higher in the patient group (0.45±0.09, 0.36±0.05, respectively, p=0.001). The deterioration of cardiac functions was associated with the severity and duration of malnutrition. Troponin concentrations were not elevated in any patients. The corrected QT dispersion was significantly higher in patients with malnutrition (47.9±16.8, 32.9±10.6, respectively, p=0.001). Complex ventricular arrhythmias were not noted in any patients. CONCLUSION: The malnourished children in this study exhibited impairment in the functions of cardiac contraction including mainly systolic functions and in cardiac conduction system. Cardiac morbidity and mortality can be prevented by early detection and treatment of malnutrition in these patients.

Early neurological complications in children with classical galactosemia and p.gln188arg mutation.

BACKGROUND: Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG. METHODS: We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017. We included those who exhibited CG and p.gln188arg homozygous mutation without concomitant disease and who had undergone detailed neurological examination, brain magnetic resonance imaging (MRI), and Denver II developmental testing. RESULTS: The mean ages at the time of the most recent neurological examination and Denver II testing were 48.5 ±â€¯28.5 months and 34.4 ±â€¯18.2 months, respectively. Developmental delay was defined as developmental age ≥ 20% lower than chronological age. The results were normal in 25 patients and delayed ≥ 20% in least in one domain, primarily in language development, in 21 patients. Brain MRI was abnormal in 22 patients. CONCLUSIONS: This analysis of the youngest children with the same genetic mutation reported thus far showed that, despite treatment, developmental delays and abnormalities on brain MRI may begin at an early age.

A comparison of the effects of invasive mechanic ventilation/surfactant therapy and non-invasive nasal-continuous positive airway pressure in preterm newborns.

AIMS: This study compared the early-term outcomes of mechanical ventilation (MV)/surfactant treatment with nasal-continuous positive airway pressure (nCPAP) in preterm infants with respiratory distress syndrome (RDS). MATERIALS AND METHODS: Data from newborns born between ≥24 and ≤32 weeks of gestation, hospitalized at our newborn intensive care unit, and diagnosed with RDS between January 2009 and February 2012 were analyzed. RESULTS: Of 193 newborns with RDS who were enrolled in the study, 113 were treated with nCPAP and 80 with MV at a level of 57.5% of nCPAP. Within the study group, 46.3% of the infants were female. The mean gestation of the continuous positive airway pressure (CPAP) group was 29.07 ± 1.99 weeks; that of the MV group was 28.61 ± 2.01 weeks. The birth weight was 1321.1 ± 325.4 g and 1240.3 ± 366.1 g; however, the difference between the two groups was not significant. MV was not required in 54.9% of the patients with nCPAP treatment. Bronchopulmonary dysplasia (BPD) developed in 20 (18.7%) patients in the nCPAP group and 18 (24.4%) patients in the MV group; the difference was not significant (p = .351). Between 2009 and 2012, nCPAP was used at a rate of 33.9, 70.8, 68.4, and 69%. The risk factors for developing BPD were low gestation week, duration of intubation, and proven sepsis (p = .0001, p = .004, and p = .011, respectively). CONCLUSIONS: Early nCPAP treatment in preterm infants (≤32 weeks of gestation) decreases both the need for MV and the use of surfactant, but without a significant effect on BPD development. (No. 2016/324).

Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments.

Çelik M, Özgün N, Akdeniz O, Fidan M, Tüzün H, Ipek MS, Emecan M, Eminoglu FT. Folate deficiency in patients with classical galactosemia: A novel finding that needs to be considered for dietary treatments. Turk J Pediatr 2018; 60: 540-546. The objectives of the study were to assess folate deficiency in patients with classic galactosemia, and to determine whether folic acid supplementation has an effect on galactose-1-phosphate uridyltransferase enzyme activity. Sixty-one newborn infants diagnosed with classic galactosemia between 2010 and 2017 were retrospectively evaluated. Within this group, 48 patients with Q188R homozygous mutation alone were enrolled into the study. Serum folate concentration was studied using chemiluminescence; and in folate deficient patients, galactose-1-phosphate uridyltransferase measurements before and after folic acid supplementation (100 mg/day folic acid for 30 days) were performed using an enzymatic calorimetric measurement technique based on kinetics. The serum folate level was low ( < 4 ng/ml) in 12 patients (25%). The galactose-1-phosphate uridyltransferase enzyme activity after folic acid supplementation was significantly higher than the values before folic acid supplementation (1.00±0.19 U/g Hb vs. 0.74±0.23 U/g Hb, p < 0.05); but was still less than the normal levels. Folate deficiency, most likely due to poor dietary intake, may develop in pediatric patients with classical galactosemia, and folic acid should be supplemented. Folic acid supplementation appears to have a low, but statistically significant, effect on galactose-1-phosphate uridyltransferase enzyme activity, but comprehensive research is needed to clarify whether there is any clinical significance.

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia

Sirolimus has been reported to be effective in the treatment of the diffuse form of congenital hyperinsulinism (CHI), unresponsive to diazoxide and octreotide, without causing severe side effects. Two newborns with CHI due to homozygous ABCC8 gene mutations were started on sirolimus aged 21 and 17 days, due to lack of response to medical treatment. A good response to sirolimus was observed. At follow-up after ten and two months of treatment, liver enzymes were found to be increased [serum sirolimus level 1.4 ng/mL (normal range: 5-15), aspartate aminotransferase (AST): 298U/L, alanine aminotransferase (ALT): 302U/L and serum sirolimus level: 9.9 ng/mL, AST: 261U/L, ALT: 275U/L, respectively]. In Case 1, discontinuation of the drug resulted in normalization of liver enzymes within three days. Two days after normalization, sirolimus was restarted at a lower dose, which resulted in a repeated increase in transferases. In Case 2, a reduction of sirolimus dose caused normalization of liver enzymes within ten days. When the dose was increased, enzymes increased within three days. Sirolimus was discontinued in both cases. The rapid normalization of liver enzyme levels after sirolimus withdrawal or dose reduction; elevation of transaminases after restart or dose increase and rapid normalization after sirolimus withdrawal were findings strongly suggestive of sirolimus-induced hepatitis. To the best of our knowledge, this is the first report of sirolimus-induced hepatitis in CHI. Sirolimus is a promising drug for CHI patients who are unresponsive to medical treatment, but physicians should be vigilant for adverse effects on liver function.

Colistin use in critically ill neonates: A case-control study.

BACKGROUND: The aim of this study was to assess the safety and efficacy of colistin use in critically ill neonates. METHODS: This was a case-control study that included newborn infants with proven or suspected nosocomial infections between January 2012 and October 2015, at two centers in Diyarbakir, Turkey. The clinical and laboratory characteristics and outcomes of patients who received colistin therapy were reviewed and compared to patients who were treated with antimicrobial agents other than colistin during the same period. RESULTS: Forty-seven cases who received intravenous colistin (colistin group) and 59 control patients (control group) were included. There were no significant differences between the groups regarding outcomes and nephrotoxicity, including acute renal failure. Colistin therapy was associated with significantly reduced serum magnesium (1.38 ± 0.39 mg/dL vs. 1.96 ± 0.39 mg/dL, p < 0.001) and hypokalemia (46.8% vs. 25.4%, p = 0.026). The patients who received colistin also had longer hospital stays (43 (32-70) days vs. 39 (28-55) days, p = 0.047), a higher rate of previous carbapenem exposure (40.4% vs. 11.9%, p = 0.001), and a higher age at the onset of infection (13 (10-21) days vs. 11 (9-15) days, p = 0.03). CONCLUSION: This study showed that colistin was both effective and safe for treating neonatal infections caused by multidrug-resistant gram-negative bacteria. However, intravenous colistin use was significantly associated with hypomagnesemia and hypokalemia.