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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

Objective:Retinopathy of prematurity (ROP) is one of the leading causes of childhood vision loss in both developed and developing countries. In this study, we aimed to assess the results of ROP screening and treatment, and to evaluate the risk factors in our newly established unit. We also compared our data with other studies reported in Turkey.Methods:Two-hundred and forty eight (33.9%) infants were enrolled in ROP screening between January 2012-January 2016. The results of ROP screening and treatment, and the risk factors for ROP in infants followed up in a newly established neonatal intensive care unit were determined.Results:ROP was observed in 25.8% of premature infants in different stages and zones. In the logistic regression analysis, we found an increased risk of ROP development in those patients with the following risk factors: Low gestational age [p=0.0001, odds ratio (OR)=0.73], sepsis (p=0.003, OR=0.57), and bronchopulmonary dysplasia (p=0.0035, OR=0.41).Conclusion:Good antenatal care, improving unit conditions, and regular screening will decrease the ROP incidence in our facility to the level of developed countries. Hopefully, this will help to reduce the future sequelae of visual function loss in these patients. The awareness of the risk factors and the complications of ROP will decrease the incidence of the disease in unexperienced and newly organized NICUs.

Background To evaluate the prevalence, risk factors and treatment of retinopathy of prematurity (ROP) in Turkey and to establish screening criteria for this condition., Methods A prospective cohort study (TR-ROP) was performed between 1 April 2016 and 30 April 2017 in 69 neonatal intensive care units (NICUs). Infants with a birth weight (BW)=1500 g or gestational age (GA) 1500 g or GA> 32 weeks with an unstable clinical course were included in the study. Predictors for the development of ROP were determined by logistic regression analyses., Results The TR-ROP study included 6115 infants: 4964 (81%) with a GA 32 weeks. Overall, 27% had any stage of ROP and 6.7% had severe ROP. A lower BW, smaller GA, total days on oxygen, late-onset sepsis, frequency of red blood cell transfusions and relative weight gain were identified as independent risk factors for severe ROP in infants with a BW=1500 g. Of all infants, 414 needed treatment and 395 (95.4%) of the treated infants had a BW, Conclusions Screening of infants with a GA

Aim: Vancomycin-resistant enterococcus (VRE) is a concerning microorganism among hospitalized and intensive care patients. The aim of this study was to report the outbreak characteristics, the risk factors, and the outbreak control of VRE colonization in a neonatal intensive care unit and the effect of Lactobacillus reuteri on VRE colonization. Material and Method: Thirty- nine cases and seventy-eight controls were included in the case-control study between December 2012- June 2013. The primary outcome variable was the risk factors of VRE colonization. The secondary outcome was the effect of Lactobacillus reuteri on elimination of VRE. Results: Of 272 neonates, 39 (14.3%) were colonized with VRE. Multivariate analysis suggested that gestational age, shared use of ultrasonography, and receiving anti-methicillin resistant staphylococcus aureus drugs were the risk factors of VRE colonization. Twenty-six of the 39 VRE positive patients received Lactobacillus reuteri. Eleven (42.3%) of 26 patients became negative after the use of probiotics. The clearance time of VRE was 9.61 +/- 5.53 days. Discussion: Low gestational age, shared ultrasonography, and anti- methicillin resistant staphylococcus aureus drug exposure are major independent risk factors for VRE colonization. An effective Infection control programme should be implemented. To determine the effectiveness of probiotics in VRE colonization, further randomized controlled trials must be conducted.

Background/aim: We aimed to evaluate the association of the umbilical cord macrophage migration inhibitory factor (MIF) with the respiratory distress syndrome (RDS) in preterm infants. Materials and methods: A total of eighty six preterm infants (38 with RDS and 48 without RDS) were involved in the study. ELISA is the technique assaying MIF values. Results: The mean of the infants’ gestational ages and birth weights were significantly different (P = 0.0001). There were no significant differences in sex, delivery mode or exposure to antenatal steroid among the groups (P > 0.05). Umbilical cord MIF levels of the infants were not correlated with gestational age and birth weight (Spearman’s rho = –0.22 and 0.28 respectively, P > 0.05). There was no statistically significant difference in umbilical cord MIF levels of infants whether or not they were administered antenatal steroid (median:17.88 vs. median:17.60, Mann–Whitney U test, P = 0.42). Cord serum MIF levels were higher (mean, 17.09 ± 5.86 ng/mL) in the RDS group than in the non-RDS group (mean, 14.72 ± 4.18 ng/mL) (P = 0.005). Conclusion: This study shows that, MIF level is higher in the cord blood of the infants with RDS than of the infants without RDS. This supports that MIF expression begins in prior to the birth of the preterm infants and MIF has enhancing impact on the lung development of premature babies. With future studies, the assessment of the cord MIF levels at the bedside may be beneficial for the diagnosis and treatment of RDS, and taking actions to prevent long-term consequences. Bezmiâlem Vakıf Üniversitesi

Beken, Serdar/0000-0002-8609-2684; BAS, AHMET YAGMUR/0000-0002-1329-2167; Bulbul, Ali/0000-0002-3510-3056; Karatekin, Guner/0000-0001-7112-0323, WOS: 000534242500056, PubMed: 31851725, Objective To investigate the early neonatal outcomes of very-low-birth-weight (VLBW) infants discharged home from neonatal intensive care units (NICUs) in Turkey. Material and methods A prospective cohort study was performed between April 1, 2016 and April 30, 2017. the study included VLBW infants admitted to level III NICUs. Perinatal and neonatal data of all infants born with a birth weight of.1500 g were collected for infants who survived. Results Data from 69 NICUs were obtained. the mean birth weight and gestational age were 1137 +/- 245 g and 29 +/- 2.4 weeks, respectively. During the study period, 78% of VLBW infants survived to discharge and 48% of survived infants had no major neonatal morbidity. VLBW infants who survived were evaluated in terms of major morbidities: bronchopulmonary dysplasia was detected in 23.7% of infants, necrotizing enterocolitis in 9.1%, blood culture proven late-onset sepsis (LOS) in 21.1%, blood culture negative LOS in 21.3%, severe intraventricular hemorrhage in 5.4% and severe retinopathy of prematurity in 11.1%. Hemodynamically significant patent ductus arteriosus was diagnosed in 24.8% of infants. Antenatal steroids were administered to 42.9% of mothers. Conclusion the present investigation is the first multicenter study to include epidemiological information on VLBW infants in Turkey. Morbidity rate in VLBW infants is a serious concern and higher than those in developed countries. Implementation of oxygen therapy with appropriate monitoring, better antenatal and neonatal care and control of sepsis may reduce the prevalence of neonatal morbidities. Therefore, monitoring standards of neonatal care and implementing quality improvement projects across the country are essential for improving neonatal outcomes in Turkish NICUs., Turkish Neonatal Society [2-2016]; Turkish Neonatal Society, This study was supported by the Turkish Neonatal Society, http://www.neonatology.org.tr, number 2-2016, received by AYB. Turkish Neonatal Society funded the study's online registry system. the funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

To investigate cord arterial blood sample and the relationship between birth stress and intraocular pressure in infants at 5 min after delivery. The IOP measurements were taken using Tonopen-Avia tonometer to 158 newborns (158 eyes) at 5th min after birth, in a university hospital. Cord blood was collected within 3 min after delivery. Intraocular pressure, gender, gestation period, mode of delivery, and birth weight of newborns were noted from medical records. Sixty-two babies were delivered by normal vaginal delivery (NVD) and 96 by cesarian section (C/S). Mean IOP of NVD and C/S groups were 19.56 ± 3.84 and 17.42 ± 3.50, respectively. There was significant difference of mean IOP between two groups. (p

Background Neonatal jaundice (NNJ) is common, but few root cause analyses based on national quality registries have been performed. An online registry was established to estimate the incidence of NNJ in Turkey and to facilitate a root cause analysis of NNJ and its complications. Methods A multicenter prospective study was conducted on otherwise healthy newborns born at ≥35 weeks of gestation and hospitalized for only NNJ in 50 collaborator neonatal intensive care units across Turkey over a 1-year period. Patients were analyzed for their demographic and clinical characteristics, treatment options, and complications. Results Of the 5,620 patients enrolled, 361 (6.4%) had a bilirubin level ≥25 mg/dL on admission and 13 (0.23%) developed acute bilirubin encephalopathy. The leading cause of hospital admission was hemolytic jaundice, followed by dehydration related to a lack of proper feeding. Although all infants received phototherapy, 302 infants (5.4%) received intravenous immunoglobulin in addition to phototherapy and 132 (2.3%) required exchange transfusion. The infants who received exchange transfusion were more likely to experience hemolytic causes (60.6% vs. 28.1%) and a longer duration of phototherapy (58.5 ± 31.7 vs. 29.4 ± 18.8 h) compared to infants who were not transfused (p < 0.001). The incidence of short-term complications among discharged patients during follow-up was 8.5%; rehospitalization was the most frequent (58%), followed by jaundice for more than 2 weeks (39%), neurological abnormality (0.35%), and hearing loss (0.2%). Conclusions Severe NNJ and bilirubin encephalopathy are still problems in Turkey. Means of identifying at-risk newborns before discharge during routine postnatal care, such as bilirubin monitoring, blood group analysis, and lactation consultations, would reduce the frequency of short- and long-term complications of severe NNJ.

INTRODUCTION[|]To evaluate to changes and the reasons of the changes in intraocular pressure (IOP) and central corneal thickness (CCT) in the first 24 hours of life of full-term newborns.[¤]METHODS[|]IOP,CCT measurements were determined by using Tono-Pen XL tonometer,portable pachymeter.In this prospective study we evaluate IOP and CCT of the 32right eyes of 32 newborn infants by vaginal delivery.The data was included.IOP and CCTmeasurements taken at 5th minutes just after the delivery and 24th h of the first day of the post partum period.Infant weights,heights,gender APGAR scores and gestational ages were also obtained.[¤]RESULTS[|]The mean IOP and CCT of right eyes was decreased significantly from18.67 +- 3.28 mmHg and684.72 +- 58.79 µm at the fifth minute after delivery to16.10 +- 2.87 mmHg and 611.28 +- 49.41 µm at the 24th hour of the postpartum period(p < 0.0001).There was no statistically difference between right-left eyes in terms of IOP and CCT at any measurement point. [¤]DISCUSSION AND CONCLUSION[|]We found that the mean IOP and CCT was decreased significantly between the values at the fifth minute after delivery and the 24th hour of the postpartum period.There is a need for more research to investigate the changes and the causes in IOP and CCT of newborns.[¤]

Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography.

Freman-Sheldon sendromu, ıslık çalar şekilde küçük ağız, maske şeklinde yüz, eklem kontraktürleri (özellikle el ve parmaklarda), gelişmemiş burun kıkırdağı ile karakterize otozomal dominant (nadiren otozomal resesif olgular da bildirilmiştir geçiş gösteren bir hastalıktır. Diğer klinik bulguları; geniş alın, derin yerleşimli gözler, epikantal kıvrımlar, yüksek damak, H şeklinde çukurlaşan çene, ellerin ulnar deviasyonu, nöbetler ve kalça çıkığıdır. Yenidoğan yoğun bakım ünitemize 10 günlük erkek hasta sarılık ve yüksek ateş nedeniyle yatırıldı. Hastamızın 42,5°C ateşi, ıslık çalar şekilde küçük ağzı, maske şeklinde yüzü, parmaklarda eklem kontraktürleri, ellerinde ulnar deviasyonu vardı. Anne baba akraba idi ve 1 yaşında bir erkek çocuklarını intrakraniyal hemoraji nedeniyle kaybetmişlerdi. İngilizce literatür taramalarında 60 olgudan fazla Freman-Sheldon sendromu olgusu bulunduğu görülmekle birlikte olgumuz hemofili A ile birlikteliği olan ilk, anestezi almadan hipertermi görülen ikinci olgudur The Freeman-Sheldon syndrome (FSS) (whistling face) is a congenital autosomal dominant disease (rarely described in its autosomal recessive form) characterized by small "whistling" mouth, a flat masklike face, joint contractures (commonly involving the fingers and hands) and underdevelopment of the nasal cartilage. Other clinical features include full forehead, deep set eyes, epicanthal folds, high palate, H-shaped cutaneous dimpling on the chin, ulnar deviation of the hands, seizures, and dislocation of the hip. A 10-day-old male newborn was admitted to our neonatal intensive care unit with jaundice and hyperthermia. He had fever of 42.5°C, small whistling mouth, a flat mask-like face, joint contractures of the fingers, and ulnar deviation of the hands. The parents were consanguineous and one of the boys died when he was 1 years old due to intracranial hemorrhage. To our knowledge, there have been more than 60 cases diagnosed with FSS. This is the first reported case of Freeman-Sheldon syndrome associated with hemophilia A and the second case of FSS associated with fever without anesthesia

Amaç: Yenidoğan sepsisi, yaşamın ilk 28 günündeki en sık ve hayatı tehdit edici hastalıklarından biridir. Uygun antibiyotik tedavisine rağmen yüksek morbidite ve mortaliteyle seyredebilmektedir. En çok neden olan etkenler ve sıklıkları farklılık gösterebilmekte ve zaman içinde aynı hastane içinde dahi değişebilmektedir. Bu çalışmada, Yenidoğan Yoğun Bakım Ünitesi'nde takip ve tedavi edilen kültürle kanıtlanmış sepsis tanılı yenidoğan bebeklerin değerlendirilmesi amaçlandı.Gereç ve Yöntem: Çalışmada Bezmialem Vakıf Üniversitesi Tıp Fakültesi Hastanesi'nde Ocak 2012-Temmuz 2015 tarihleri arasında 1,2 ve 3. düzey yenidoğan yoğun bakımda takip ve tedavi edilmiş olan 1735 hasta retrospektif olarak incelendi. Kültür ile kanıtlanmış neonatal sepsis tanısı almış 56 hasta çalışmaya alındı.Bulgular: Hastaların %55,4'ü erkek, %44,6'sı kız idi. Doğum haftaları ortalama 31,77 ±5 idi. Doğum ağırlıkları ortalama 1654,07 ±906,6 gramdı. Hastaların %76,8'i preterm, %23,2'si term idi. Hastaların %14,3'ünün erken başlangıçlı neonatal sepsis, %85,7'sinin geç başlangıçlı neonatal sepsis olduğu saptandı. Erken başlangıçlı neonatal sepsiste en sık etken Stenotrophomonas maltophilia, geç başlangıçlı neonatal sepsiste ise koagülaz negatif stafilokoklar ve Klebsiella pneumonia idi. Erken başlangıçlı neonatal sepsiste mortalite %12,5 ve geç başlangıçlı neonatal sepsiste de %12,5 idi. Her iki sepsis grubunda da ölen bebeklerin hepsi preterm idi. Gram pozitif mikroorganizmalarda vankomisin direnci saptanmadı. Gram negatif mikroorganizmaların antibiyotik dirençleri değerlendirildiğinde meropenem direnci saptanmazken imipenem direnci en fazla %50 idi. Sonuç: Neonatal sepsisli hastalarda sepsis tipi, etken mikroorganizmalar ve antibiyotik dirençleri üniteler arasında ve zamanla ünite içerisinde de farklılıklar gösterebilir. Bu nedenle, aktif sürveyans uygulanarak tedavi protokolleri sıklıkla güncellenmelidir.Anahtar Kelimeler: Sepsis, Yenidoğan, Prematürite, Kan Kültürü, Antibiyotik Direnç Objective: Neonatal sepsis is one of the most frequent and life threatening disorder in the fisrt 28 days of life. Although appropriate antibiotic treatment is performed, disease courses with high morbidity and mortality. The type of the causative organisms and their frequency may change by the time even in the same hospital. In this study, we aimed to evaluate characteristics of the culture-proven cases in our neonatal intensive care unit.Materials and Methods: Between January 2012–July 2015, 1735 neonates who were hospitalized at level 1,2 and 3 of neonatal intensive care unit at Bezm-i Alem Vakıf University Hospital. The 56 patients diagnosed as culture proven sepsis were involved in the study. Results: The mean gestational age of patients was 31,77 ±5 weeks, and the mean birth weight was 1654,07 ±906,6 grams. 55,4% of the patients were male, 44,6% of them were female. The patients were 76,8% premature and 23,2% term newborns. Early onset neonatal sepsis was diagnosed %14,3% of patients, late onset neonatal sepsis was diagnosed 85,7% of patients. Stenotrophomonas maltophilia was the most frequently isolated microorganism in patients with early onset neonatal sepsis, while coagulase-negative staphylococci and Klebsiella pneumoniae were the most frequently isolated microorganisms in patients diagnosed with late onset neonatal sepsis. Mortality rate was 12,5% in early onset neonatal sepsis, 12,5% in late onset neonatal sepsis. All of the babies were premature in both sepsis groups. Vancomycin resistance was not determined in any of the gram positive microorganisms. Meropenem resistance was not determined and imipenem had a maximum value of 50% resistance in the evaluated gram negative microorganisms.Conclusion: The type of sepsis and microorganisms and their antibiotic resistance changes amongst neonatal intensive care units and also in the same unit by the time. Active surveillance is recommended to update the treatment protocols.Key words: Sepsis, Newborn, Prematurity, Blood Culture, Antibiotic Resistance 92

İmmatür beyinde hiperoksiye bağlı hasara levetirasetamın etkisiGiriş: Yenidoğan Yoğun Bakım Üniteleri'nde prematüre bebeklerin tedavisinde sıklıkla kullanılmakta olan oksijen tedavisi gelişmekte olan beyinde nöronal apopitoza sebep olmaktadır. Levetirasetam (LEV) yenidoğanlarda kullanımı ile ilgili yeterli veri olmayan yeni nesil bir antiepileptiktir. Literatürde LEV'in diğer bazı beyin hasarı modellerinde nöroprotektif etkileri bildirilmiş olmakla birlikte immatür beyinde hiperoksik hasar üzerindeki etkilerini değerlendiren bir çalışma yoktur.Amaç: Bu çalışmanın amacı, immatür beyinde hiperoksiye bağlı hasar üzerine LEV'in olası nöroprotektif etkilerini araştırmaktır.Yöntemler: Toplam 24 adet Wistar-albino sıçan yavrusu kullanıldı. Sıçan yavruları üç gruba ayrılarak iki gruba postnatal 6.günden 10.güne kadar hiperoksi (% 80-%90 oksijen) uygulandı. Hiperoksi gruplarından biri 200 mg/kg LEV ile tedavi edilirken, diğer iki gruba normal salin intraperitoneal olarak uygulandı. Kontrol grubu sıçanlar normooksik koşullarda takip edildi. Frontal, parietal, oksipital bölgelerde apopitoz değerlendirilmesi için aktif kaspaz-3, anjiogenez değerlendirilmesi için vasküler endotelyal büyüme faktörü (VEGF) immunhistokimyasal olarak çalışılarak işaretli hücre yüzdesi hesaplandı. Antioksidan durumun değerlendirilmesi için katalaz ve tiyol kan düzeyleri çalışıldı.Bulgular: Hiperoksi+LEV grubunda LEV tedavisi ile incelenen hiçbir bölgede apopitozda anlamlı azalma saptanmazken sadece parietal bölgede kontrol grubuna göre apopitozda anlamlı artış görülmüştür. VEGF düzeyi her üç bölgede hiperoksi ile artmış ve LEV tedavisi ile frontal bölgede artarken parietal ve oksipital bölgede kontrol grubuna yaklaşmıştır. Katalaz düzeyi hiperoksi guruplarında normooksi grubuna göre azalmış iken, LEV ile tedavi edilen grupta artarak kontrol grubuna yaklaşmaktadır. Ancak gruplar arasındaki bu farklar istatistiksel olarak anlamlı düzeyde değildir. Tiyol düzeyinde de gruplar arasında belirgin ve istatistiksel olarak anlamlı fark bulunmamaktadır.Sonuç: Bu çalışmada immatür beyinde hiperoksiye bağlı hasara karşı LEV'in nöroprotektif etkisine dair veri elde edilememiştir. Prematüre bebeklerin kısa ve uzun dönemde nörokognitif fonksiyonlarını düzeltecek tedaviler açısından daha fazla deneysel ve klinik çalışmalara ihtiyaç vardır.Anahtar Kelimeler: İmmatür beyin, Hiperoksi, Nöroprotektif, Levetirasetam Effects of levetiracetam on hyperoxia-related injury in immature brainBackground: Oxygen therapy widely being used in neonatal intensive care units causes neuronal apoptosis in developing brain. Levetiracetam (LEV) is a new generation antiepileptic drug with insufficient data on its use in newborns. The neuroprotective effects of LEV have been reported in some other brain injury animal models but there is no study evaluating its effects on hyperoxic immature brain injury.Objective: The aim of this study was to investigate the possible neuroprotective effects of LEV on hyperoxia-induced immature brain damage.Methods: A total of 24 Wistar-albino rat pups were used. Rat pups were separated into three groups. Two groups subjected to hyperoxia (80-90% oxygen) from postnatal sixth day to tenth day. Hyperoxia groups were treated with LEV or normal saline. Control group rats stayed in normooxic conditions and treated with normal salin. The immunohistochemistry procedure was performed for active Caspase-3 for neuronal apoptosis and vascular endothelial growth factor (VEGF) for angiogenesis in frontal, parietal and occipital regions. Marked cell percentage was calculated. To assess antioxidant status, catalase and thiol blood levels were investigated.Results: No significant decrease in apoptosis with LEV treatment was observed in any of the areas examined in the hyperoxia+LEV group, but only a significant increase in apoptosis was observed in the parietal region compared to the control group. VEGF levels were increased by hyperoxia in all regions examined and decreased with LEV treatment except for frontal region but these differences are not significant. Catalase levels in the hyperoxia groups were decreased compared to the control normoxia group, while in the group treated with LEV, increased and closed to normal values. However, this difference between groups did not reach a statistically significant level. Thiol levels were not significantly different between the groups.Conclusions: In this study, we couldn't obtain any evidence about neuroprotective effect of LEV against hyperoxia-induced damage in immature brain. More clinical and preclinical studies are needed to improve the neurocognitive outcomes of premature infants.Keywords: Immature brain, Hyperoxia, Neuroprotection, Levetiracetam 72

Bisphenol A (BPA) is known as an endocrine disruptor and it is supposed to have a role on the development of central precocious puberty (CPP). Kisspeptin, a hypothalamic peptide, is a neuromodulator of gonadotropin releasing hormone and it has an important role on regulation of the onset of puberty. The BPA levels in girls with CPP and premature thelarche (PT) and its relation with kisspeptin levels were investigated.Twenty-eight girls with CPP, 28 girls with PT and 22 prepubertal girls as a control group were enrolled to the study. Urinary BPA and serum kisspeptin levels were compared in the groups. Bivariate correlations were performed to evaluate the relations of BPA with kisspeptin and estradiol.There was no statistical difference between groups regarding BPA levels. Serum kisspeptin levels were higher in CPP group than controls [306.56 (interquartile range (IQR), 175.63–504.66) vs. 157.62 (IQR, 55.61–285.00) p: 0.008]. There were no correlations between BPA and kisspeptin levels (r: 0.088, p: 0.391) and between BPA and estradiol (r: –0.171, p: 0.144).The BPA levels did not differentiate between groups and it seems that the exposed amount of BPA in daily life did not affect kisspeptin levels in girls with CPP and PT.

Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP, and requires the allosteric activator N-acetyl-L-glutamate. Clinical mutations occur in the entire CPS1 coding region, but mainly in single families, with little recurrence. We characterized here the only currently known recurrent CPS1 mutation, p.Val1013del, found in eleven unrelated patients of Turkish descent using recombinant His-tagged wild type or mutant CPS1 expressed in baculovirus/insect cell system. The global CPS1 reaction and the ATPase and ATP synthesis partial reactions that reflect, respectively, the bicarbonate and the carbamate phosphorylation steps, were assayed. We found that CPS1 wild type and V1013del mutant showed comparable expression levels and purity but the mutant CPS1 exhibited no significant residual activities. In the CPS1 structural model, V1013 belongs to a highly hydrophobic beta-strand at the middle of the central beta-sheet of the A subdomain of the carbamate phosphorylation domain and is close to the predicted carbamate tunnel that links both phosphorylation sites. Haplotype studies suggested that p.Val1013del is a founder mutation. In conclusion, the mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble. Recurrence of this particular mutation in Turkish patients is likely due to a founder effect, which is consistent with the frequent consanguinity observed in the affected population. (C) 2014 Elsevier Inc All rights reserved.

Gastrointestinal stromal tumors (GISTs) are rare in the childhood period. The authors reported a case who was admitted to the neonatal intensive care unit (NICU) on a suspicion of intestinal obstruction. She was operated and a mass in a size of 6 xx 4.5 xx 4 cm was resected from the ileum. Histologic and immunohistochemical studies showed a GIST. CD34, small muscle actin (SMA), and desmin were positive. The baby was discharged on the 13th day after operation.

Çalışmaya 01.09.2009- 01.05.2010 tarihleri arasında hastanemiz Çocuk Acil ve ÇocukPolikliniğine başvuran son 48 saatte ishal yakınması başlayan ve taze dışkı örneklerinderotavirus antijeni pozitif saptanan 6 ay-5 yaş arası çocuklar dahil edildi. Başvuru anındahastaların demografik özellikleri, tıbbi hikaye, ishal sayısı, kıvamı, kusmanın eşlik edipetmediği, rotavirus aşısı yapılıp yapılmadığı ile ilgili çocuğa ait bilgiler ailelerden alındı.Hastaların fizik muayenelerinde nutrisyon durumu, dehidratasyon derecesi, ateş olupolmamasi, oral tolerans ve gaita karakteristiği not edildi.Rotavirus gastroenteriti tanısı konulan hastalar 3 gruba ayrıldı.1. gruptaki 25 hastayayaşına uygun ishal diyeti ve Saccharomyces boulardii, 2. Grup 25 hastaya yaşına uygun ishaldiyeti ve Bifidobacterium lactis,3.grup 25 hastaya sadece yaşına uygun ishal diyeti verildi.BULGULARÇalışmaya taze dışkı örneklerinde rotavirus antijeni pozitif saptanan 75 hasta dahil edildi.Rotavirus enfeksiyonlarının görülme yaşı ortalama 20.971±2.88 ay saptandı. Her iki cinsiyetteeşit sıklıkta ve en sık kış mevsiminde görüldü ( %62.7). Yaşına uygun ishal diyeti veBifidobacterium laktis alan grupta ishal süresinin diğer iki gruptan daha kısa olduğu (p