Sahin Takci

Effects of freezing on the bactericidal activity of human milk.

Objectives: Storage of human milk by freezing has been recommended for long-term storage. The present study analyzed the bactericidal activity of human milk on Escherichia coli and Pseudomonas aeruginosa and determined the changes in bactericidal activity following freezing at −20°C and −80°C for 1 month and 3 months. Methods: Forty-eight milk samples were collected from 48 lactating mothers. Each sample was divided into 10 aliquots. Two of the samples were processed immediately and the others were stored at both −20°C and −80°C until analysis after 1 month and 3 months of freezing. Results: All of the fresh milk samples showed bactericidal activity against E coli and P aeruginosa. Freezing at −20°C for 1 month did not cause statistically significant alteration in bactericidal activity (P > 0.017), whereas storage for 3 months lowered the degree of bactericidal activity significantly (P < 0.017) against E coli. Bactericidal activity was protected when the samples were stored at −80°C. There was no statistically significant difference in the bactericidal activity of human milk against E coli between freezing at −20°C and −80°C for 1 month (P > 0.017); however, when milk was stored for 3 months, −80°C was significantly more protective (P < 0.017). Freezing at −20°C and −80°C for 1 month and 3 months did not cause any significant change in bactericidal activity against P aeruginosa (P > 0.05). Conclusions: Storage by freezing at −80°C is more appropriate to keep bactericidal capacity of stored human milk >1 month if affordable and available, especially in intensive care settings.

Etiology and Outcome of Hydrops Fetalis: Report of 62 Cases

AIM We aimed to define the etiologic and prognostic factors in live-born infants with hydrops fetalis (HF) in our tertiary neonatal intensive care unit over a 10-year period. METHODS Medical records of newborn infants with HF during 2002-2011 were reviewed retrospectively. Demographic data, prenatal interventions, clinical and laboratory findings, outcomes, and the results of postmortem examinations were analyzed. RESULTS During the study period, 62 newborn infants with HF were identified from 16,200 live-born deliveries and the incidence of HF was 3.8/1000 live births in our hospital. Twenty-eight infants (45.2%) had immune HF, whereas 34 (54.8%) had nonimmune HF. An etiologic factor could be identified in 24 (70.5%) infants with nonimmune HF. Lymphatic dysplasias comprised the majority (23.5%) of the infants with nonimmune HF. Mortality rate was 50%. The presence of two or more serous cavity effusions and gestational age were independently associated with the risk of mortality. CONCLUSION Despite the improvements in neonatal care, mortality rate in infants with HF is still high. Gestational age and the extent of serous cavity determine the risk of mortality. Timely and advanced prenatal or postnatal new therapeutic strategies may alter this fatal outcome in appropriate patients.

A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period.

Homozygous protein C deficiency is among rare causes of thrombophilia. Herein, we present a neonate with purpura fulminans, disseminated intravascular coagulation and severe intracranial hemorrhage who was found to have plasma protein C level of 4%. The molecular work‐up revealed a novel homozygous mutation of T903C (amino acid position Leu 270 Pro) located in a catalytic domain region of PROC gene. Asymptomatic course in patients with low but measurable levels of protein C levels has been reported, which is different than observed in our patient who had a very severe course despite plasma protein C level of 4%. Pediatr Blood Cancer 2014;61:763–764.

A new approach to an old hypothesis; phototherapy does not affect ductal patency via PGE2 and PGI2

Abstract Objective: Numerous investigations have demonstrated that phototherapy (PT) directly or indirectly causes ductal patency by photorelaxation effect. In this observational study, we aimed to assess the effect of PT on the incidence of patent ductus arteriosus (PDA) together with prostaglandins (PGE2) and (PGI2) levels in preterm infants. Methods: Preterm infants whose gestational age < 34 weeks and who required PT in the first 3 d of life were enrolled in this prospective study. The clinical signs of PDA, the data of detailed echocardiographic study were recorded and plasma PGE2 and PGI2 levels were measured before and after PT. The outcome measures were the status of ductus arteriosus and alterations of PGE2 and PGI2 levels under the effect of PT. Results: A total of 44 preterm infants were enrolled in the study, of these 21 (47.7%) were in Group 1 (Non-PDA Group) and 23 (52.3%) were in Group 2 (PDA Group). After PT, ductal reopening occurred in three infants (14.3%) in Group 1, while ductus closed in four infants in Group 2 (17.3%). PT does not seem to effect ductal patency for both groups (p = 0.250 and p = 0.125, respectively). PGE2 levels were not different before and after PT for both groups (p = 0.087, p = 0.408, respectively). However, PGI2 levels were significantly decreased after PT in both groups (p = 0.006, and p = 0.003, respectively). Conclusion: There was no effect of PT on ductal patency. We can conclude that PGs were eliminated simultaneously with ductal closure and photorelaxation effect did not influence PG levels.

Cotreatment of Congenital Measles with Vitamin A and Intravenous Immunoglobulin

Although the measles vaccine has been part of routine national childhood vaccination programs throughout Europe, measles remains a public health concern. High numbers of cases and outbreaks have occurred throughout the European continent since 2011, and an increasing number of cases have been reported in Turkey since 2012. During a recent measles outbreak in Turkey, 2 pregnant women contracted measles prior to delivering preterm infants at Hacettepe University Hospital. Measles virus genomic RNA and IgM antibodies against measles were detected in the cord blood of infants and mothers in both cases. The infants were treated with intravenous immunoglobulin (IVIG) and vitamin A. Transient thrombocytopenia was present in 1 infant and treated with an additional dose of IVIG and vitamin A. The infants were discharged, without complications, within 10 days of birth. The successful treatment of these cases suggests that infants who have been exposed to, or infected with, measles may benefit from cotreatment of vitamin A and IVIG.

Copper, zinc and iron levels in premature infants following red blood cell transfusion.

This study aimed to investigate effect of erythrocyte suspension (ES) transfusion on Cu, Zn, and Fe levels. It was conducted on 53 premature infants who were admitted to Hacettepe Hospital and received EST for first time. Blood samples were drawn before and 96h after ES transfusion to determine Cu, Zn, and Fe levels in plasma and/or erythrocytes. The mean plasma Cu levels were 99±3μg/dl and 113±3μg/dl; Zn levels were 105±2μg/dl and 115±23μg/dl; mean plasma Fe level was 58.1±19.4 and 75.2±25.4μg/dl and mean erythrocyte Fe level was 4182±2314μg/ml and 7009±5228μg/ml, before and after ES transfusion. The differences between before and after ES transfusion in Cu, Zn and Fe levels were significant. Correlation between plasma and erythrocyte Fe levels was significant both before and after ES transfusion. Though Fe overload is a major cause of morbidity/mortality after ES transfusion, alterations in trace elements should also be considered when transfusing blood to infants and children.

Cystathionine Β-Synthase Deficiency, Turner Syndrome and Immune Hydrops Fetalis in a Newborn: A Rare Coincidence

Cystathionine β-synthase (CBS) deficiency is a rare inborn error of amino acid metabolism affecting energy supply at the cellular level. Neonatal screening allows early presymptomatic diagnosis and better outcome, by preventing the complications like thrombotic disease. Here we present a female newborn baby with immune hydrops fetalis and mosaic Turner syndrome who has incidentally been early diagnosed with CBS deficiency upon detection of increased methionine on serum amino acid chromatography. The patient was unresponsive to pridoxine treatment which was compatible with p.S349N mutation detected on both alleles of cystathionine β-synthase gene. We would like to stress the point that CBS deficiency can be diagnosed by screening even in the setting of exchange transfusions and amino acid paper chromotography is a cheap and valuable metabolic screening tool in experienced hands. Since routine newborn screening for many metabolic diseases is currently not practiced in Turkey, all newborns born to families in which previous siblings had died due to unknown cause should be evaluated by amino acid paper chromotography and by other conventional metabolic tests when necessary.

Independent Study Module for Lactation Consultants

2. Which of the following statements accurately describes different plastics mentioned in the article? a. Milk storage bags are made of polycarbonate. b. Hard-sided plastics all have bisphenol A. c. Single-layer plastic bags should not be used for human milk. d. Plastics commonly consist of polyethylene, polypropylene, and polycarbonate. 3. Based on this study, which of the following storage variables would likely have the LEAST effect on composition or nutritive value of human milk? a. Temperature b. Duration c. Expression method d. Container

800 Etiology and Outcome of Hydrops Fetalis: A Single Center Experience in Turkey

Objective We aimed to define the etiologic features, outcome of liveborn hydrops fetalis and identify predictors of mortality in a single tertiary unit over an 11-year period. Method Medical records of liveborn neonates with hydrops fetalis between 2000–2011 were reviewed retrospectively. Demographic data, antenatal interventions clinical manifestations, laboratory findings, outcomes and complete or partial autopsy records were analyzed. Results Twenty six live born cases of hydrops fetalis with a sex distribution of 33 males and 29 females from the 16,200 live born deliveries in our hospital; an incidence of 3.8/1000 live births. 28 infants (45%) were diagnosed as immune hydrops fetalis. Overall, 32 infants (50%) survived to discharge. The survival rates were comparable within the immune and nonimmune etiology (43% vs. 53%, p>0.05). Of the 34 nonimmune hydrops fetalis (NIHF) cases, a plausible cause could be found for 24 (70.5%). Post-mortem examinations were performed in 11 cases of 16 non-surviving infants with NIHF. The two factors that were associated independently with mortality in the stepwise multiple logistic regression analyses were a low 5 minute Apgar score and the need for surfactant treatment. Conclusion Despite the improvements in postnatal care mortality rates are high and treatment options are still limited. The prenatal and postnatal procedures to improve lung capacity and function are necessary to achieve favorable outcome.

1036 Gracile Syndrome in a Turkish Newborn Infant Caused by a Homozygous Mutation (P99L) in Complex Iii Assembly Factor BCS1L

Background and Aim GRACILE syndrome, a neonatal, autosomally recessive disorder found in Finland, featuring growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death, is caused by a homozygous mutation (S78G) in BCS1L, the assembly factor for respiratory chain complex III. We investigated a newborn Turkish girl with similar symptoms. Her two sisters with low birth weight, metabolic acidosis, cholestasis and renal Fanconi syndrome, had died at 18 and 105 days age, respectively. Methods and results The girl was born to healthy nonconsanguineous parents. She was growth retarded (1789 g at term), developed tachypnea and metabolic acidosis on day one. Lactic acidosis, jaundice with direct hyperbilirubinemia, nonspecific aminoaciduria, high phosphaturia, proteinuria and glucosuria were detected. Serum iron (190 mcg/dl), ferritin (2819 ng/ml) and transferrin saturation (99.4%) were increased. Metabolic, cardiologic and sonographic workup were otherwise normal. Because of similarities with GRACILE syndrome, the BCS1L gene was investigated. The Finnish SNP was not found, but gene sequencing revealed a homozygous mutation resulting in an amino acid exchange (P99L) in the protein. Conclusions The studied infant had a GRACILE-like disorder caused by a different mutation than that in newborns of Finnish ancestors. Most likely the two diseased siblings had the same homozygous BCS1L mutation that previously has been published in three other newborns or Turkish origin. We proposed that P99L-mutation in BCS1L is a Turkish genotype resulting in GRACILE syndrome phenotype, and should be investigated in Turkish newborns with the typical clinical features.