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Lymphedema is a condition characterized by generalization or regional accumulation of protein-rich interstitial fluid as a result of impaired lymphatic circulation due to congenital or acquired reasons. Lymphedema infection may occur as a result of secondary neoplasm, surgery, trauma, and radiation while most childhood cases are primary lymphedema. In cases of primary lymphedema, there is an erroneous development or function of the lymphatic system and most of them are thought to have a genetic predisposition. We aim to present a case of primary congenital lymphedema with a history of kinship between parents and no dysmorphic findings, born with lymphedema on both feet., Lenfödem; lenfatik dolaşımın konjenital veya edinsel bazı nedenlere bağlı olarak bozulması sonucu, proteinden zengin interstisiyel sıvının jeneralize veya bölgesel olarak birikimiyle karakterize bir durumdur. Lenfödem enfeksiyon, neoplazm, cerrahi, travma ve radyasyona sekonder olarak gelişebilirken, çocukluk çağındaki olguların çoğu primer lenfödem şeklindedir. Primer lenfödem olgularında lenfatik sistemin hatalı gelişimi veya işlevi söz konusudur ve çoğunda genetik yatkınlık olduğu düşünülmektedir. Amacımız, anne baba arasında akrabalık öyküsü olan ve dismorfik bulguları olmayan, her iki ayak sırtında lenfödem ile doğan, bir primer konjenital lenfödem olgusunu sunmaktır.

The pathophysiology of necrotizing enterocolitis (NEC) includes the massive production of endogenous cytokines with exaggerated activation of inflammatory pathways. Ursodeoxycholic acid (UDCA) has been used as an anti-inflammatory, antioxidant, and anti-apoptotic agent. We investigated the possible protective effects of UDCA in a neonatal rat pup model of NEC.We randomly divided rat pups into three groups: a control group, a non-treated NEC group, and a UDCA-treated NEC group. We induced NEC by feeding formula enterally andUDCA significantly reduced the extents of terminal ileal and jejunal injuries compared to the NEC group (In a rat model of NEC, UDCA protects against adverse intestinal histological, immunohistochemical, and biochemical changes. UDCA significantly reduces the effects of NEC on the rat pup intestine.

Background: Neonatal thrombocytopenia is a common hematological abnormality that occurs in 20–35% of all newborns in the neonatal intensive care unit. Platelet transfusion is the only known treatment; however, it is the critical point to identify neonates who are really at risk of bleeding and benefit from platelet transfusion as it also has various potential harmful effects. Aims: To investigate the prevalence and risk factors of neonatal thrombocytopenia and its relationship to intraventricular hemorrhage in the neonatal intensive care unit and to determine whether the use of platelet mass index-based criteria could reduce the rate of platelet transfusion. Study Design: Retrospective cohort study. Methods: This study was conducted in the neonatal intensive care unit of a tertiary university hospital. The medical records of neonates in the neonatal intensive care unit with platelet counts

Background and Aim Acute bronchiolitis is the most common cause of hospitalization in the first year of life. The neutrophil/lymphocyte ratio (NLR) and mean platelet volume (MPV) are readily calculable laboratory markers used to evaluate systemic inflammation. We aim to evaluate the optimal values of these markers for the prediction of severity and hospitalization in infants with acute bronchiolitis. Materials and Methods A total of 105 patients with acute bronchiolitis and 62 healthy controls aged 1 to 12 months were prospectively enrolled to the study. The patients' group was classified into two groups, namely, outpatient and inpatient, also divided into three groups according to clinical scoring: mild, moderate, and severe. The association of NLR and MPV with clinical severity and hospitalization was investigated. Results The mean age was 7.75 ± 2.98 months in patients and 7.69 ± 2.87 months in controls. The means of NLR were 0.47 and 0.64 in controls and patients, respectively (p = 0.032) and of MPV were 9.64 and 8.9 (p Conclusion We found that blood neutrophil percentage and blood NLR are increased and also weakly predictive—but insufficient to be clinically useful—for the decision of hospitalization in acute bronchiolitis. When the positive predictive value of an NLR of 0.64 is sufficient to decide hospitalization, the negative predictive value is impractical. MPV value was less in infants with acute bronchiolitis than healthy controls and in inpatients than outpatients with acute bronchiolitis. Low MPV might be marker of inflammation in acute bronchiolitis.

WOS:000418709600006 Aim: In kidney diseases, renal damage may be mild and initially asymptomatic. Proteinuria, a marker of kidney injury, directly contributes to chronic tubulointerstitial damage. We investigated the prevalence of proteinuria (POP) in school-aged children in Turkey. Materials and Methods: The cluster sampling method was used to calculate the required size of the study group for this cross-sectional study. Urine samples were randomly obtained to determine urinary protein/creatinine ratio (Upr/Ucr) from 1374 children aged 6 to 18 years. POP was also specifically assessed in hypertensive and obese children. Results: The mean age of the subjects was 11.68 +/- 3.43 years. The children were from rural (23.9%) and urban (76.1%) regions of Tokat, Turkey. Upr/Ucr >= 0.20 was detected in 92 children, corresponding to a POP rate of 6.7%, without any statistically significant difference between girls and boys. Among 141 obese children, 16 (11.3%) and 76 of 1233 non-obese children (6.2%) had proteinuria (p0.05). Conclusion: Among school-aged Turkish children POP was 6.7%. POP was higher in obese than in non-obese children. But there was no association between POP and hypertension. While screening programs allow the early detection of renal disease, further cohort studies are required to be able to suggest urinary screening programs.

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.

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.

Very low birth weight (VLBW) infants usually receive packed red blood cell unit (pRBC) transfusions. Heavy metal transfer via pRBCs is not widely discussed before. This study aimed to determine pre-/post-transfusion erythrocyte lead and mercury levels in infants and to correlate these levels to heavy metal concentrations in pRBCs. VLBW infants (n = 80), needing pRBC transfusion for the first time, were enrolled. Erythrocyte heavy metal levels were determined in pre-/post-transfusion blood samples and also in pRBC units. Mean lead and mercury levels in the pRBCs were found to be 16.3 ± 10.8 and 3.75 ± 3.23 μg/L, respectively. Of the infants, 69.7% received lead above reference dose. Erythrocyte lead levels increased significantly after transfusions (10.6 ± 10.3 vs. 13 ± 8.5, p 0.05) with significant correlated to amount of lead within pRBCs (r = 0.28). Mean pre-/post-transfusion erythrocyte mercury levels were 3.28 ± 3.08 and 3.5 ± 2.83 μg/L, respectively (p 0.05). There was a significant correlation between mean difference of mercury levels after transfusion and amount of mercury delivered by pRBCs (r = 0.28). Infants can be subject to high levels of lead and mercury through pRBC transfusions.

Aim: Endotracheal intubation is a common procedure in the delivery room and neonatal intensive care unit. We aimed to determine the accuracy of this method of endotracheal tube (ETT) placement in our neonatal cohort. Materials and Methods: Data on infants requiring oral intubation were reviewed retrospectively. The initial ETT depth of insertion had been calculated using the Tochen 7-8-9 rule. The initial depth was compared to the mid-tracheal region. The differences between the initial and ideal depth was calculated and divided by the mid-tracheal distance. Infants were grouped according to their weights as = 3001g. Results: We evaluated ETT placement in 160 neonates. The mean gestational age was 32.2 +/- 4.4 weeks (23 to 41 weeks) and the mean weight was 1989 +/- 829 g (560 to 3800 g). The mean range of the difference between the initial depth and ideal depth divided by mid-tracheal distance was 0.39 +/- 0.04, 0.35 +/- 0.04, 0.46 +/- 0.05, and 0.23 +/- 0.04 in infants weighing = 3001 g respectively (p=0.025). The differences between the 2001-3000 g group and the 1001-2000, also the 2001-3000 g group and the >= 3001 g group were statistically significant (p

Yigit S, Takci S, Bozkaya D, Yurdakok M. Perfusion index and pleth variability index in the first hour of life according to mode of delivery. Turk J Pediatr 2018; 60: 421-425. Perfusion index (PI) is a relative assessment of the pulse strength at the monitoring site. The plethysmographic variability index (PVI, pleth variability index) is a noninvasive and continuous measure of the dynamic change in PI that occurs during respiratory cycles. In this study PI and PVI changes were compared in babies born with cesarean section (C/S) or spontaneous vaginal delivery (SVD); 125 healthy term infants were monitored with pulse oxymeter after first ten minutes of life. Data were recorded from this monitor on a personal computer and analyzed by generalized estimating equations (GEE) method. Pulse rate was lower in babies born via SVD. Perfusion index were higher in C/S group. Pleth variability index were higher in C/S group. Higher pulse rate, PI and PVI values in babies born via C/S may be indicative of more significant hemodynamic changes in these infants during early transitional period after birth.

The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status. The most common symptom was abdominal pain (99%, n = 197). The most frequent mutations were M694V and R202Q. Chest pain was reported more often in patients homozygous for M694V (61.4%). Although fever, abdominal pain, and arthritis were more commonly observed with the M694V mutation, chest pain was the most common symptom in R202Q carriers (n = 10, 32.3%). Proteinuria was observed in 42 (21.2%) patients, frequently accompanied by the M694V mutation (28.6%). The most common mutations in children with FMF in Turkey were M694V and R202Q. Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations. Moreover, chest pain was commonly seen with the R202Q mutation. Thus, R202Q might be a disease-causing mutation in FMF patients.

WOS:000401302900012 PubMed: 28421785 Background and aim: Childhood obesity is associated with an increased risk of chronic disease. We aimed to determine the association between vitamin D deficiency and cardiovascular risks in obese children. Method: The studied children were selected from obese children who were followed up at obesity clinic, aged 6-17 years. Basic demographic information and laboratory data were collected retrospectively from hospital records. Results: A total of 310 students (178 [57.4%] girls) were evaluated for 25-hydroxyvitamin D (25[ON] D) levels in late winter/spring. The prevalence rates of vitamin D deficiency, insufficiency, and sufficiency were 62.3%, 34.5%, and 3.2%, respectively. Insulin resistance was observed in 146 (47.1%) children; the frequencies of dyslipidemia and hypertension were 31% and 19.4%, respectively. The mean atherogenic dyslipidemia ratio was higher in the deficient group (p = 0.049). Inverse correlations of 25(OH) D levels were observed with homeostasis model assessment of insulin resistance values (r = -0.146, p = 0.010). The mean values of 25(011) D (ng/mL) were lower in girls (12.15 +/- 6.60) than in boys (16.48 +/- 8.69) (p < 0.05) and in children with hypertension (11.92 +/- 5.48) than in those without (14.50 +/- 8.24) (p < 0.05). Conclusions: Vitamin D deficiency is observed more frequently than expected in obese children and adolescents. Our findings indicate that low 25(OH) D levels are associated with insulin resistance. Vitamin D deficiency could contribute to the morbidities associated with childhood obesity, such as insulin resistance or diabetes mellitus, increased cardiovascular/cardiometabolic risks, atherogenic dyslipidemia, and hypertension.

Takcı Ş, Anuk-İnce D, Louha M, Couderc R, Çakar N, Köseoğlu RD, Ateş Ö. A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress. Turk J Pediatr 2017; 59: 483-486. Hereditary surfactant protein-B (SP-B) deficiency is a rare autosomal recessive disease of newborn infants causing severe respiratory failure and death within the first year of life. The most common cause of SP-B deficiency is a frameshift mutation in exon 4 (121ins2) in the gene encoding SP-B. We report a term infant with unremitting respiratory distress who was unresponsive to all treatment modalities. The parents were consanguineous and a term sibling of the infant had died due to respiratory failure without a certain diagnosis. In the first step of the diagnostic work-up, common genetic mutations for SP-B, surfactant protein C and ATP-binding cassette s3 were absent, however sequencing of SP-B gene revealed a large homozygous genomic deletion covering exon 8 and 9. In this case report, we aimed to emphasize further genetic evaluation in all cases suggestive of surfactant dysfunction, even if common mutations are absent.

Iktiyozlar klinik ve etiyolojik olarak hererojen derinin bir grup kalitsal keratinizasyon bozuklugudur. Yaygin cilt kurulugu, ciltte soyulma ve pullanma, bazen eritrodermi ve histopatolojik olarak hiperkeratoz ile karakterizedir. Iktiyozis vulgaris ve X’e bagli iktiyoz, iktiyozun en yaygin gorulen tipleridir. Konjenital iktiyozlar daha seyrek gorulur. Lameller iktiyoz, konjenital iktiyoziform eritrodermi ve harlequin iktiyozu konjenital iktiyozlar arasinda yer alir. Lamellar iktiyoz genelikle dogumda mevcuttur ya da kisa bir sure sonra baslar. Bebekler tum vucudu kaplayan parsomen kagidi benzeri yapisi olan seffaf bir membranla (kollodion zar) dogarlar. Dehidratasyon, sepsis, elektrolit dengesizligi ve pnomoni gibi komplikasyonlarin onlenmesi sag kalim acisindan buyuk onem tasir. Tedavideki temel amac sivi kaybinin onlenmesi, derinin nemlendirilmesi ve stratum korneumun yumusakliginin saglanmasidir. Sundugumuz olgumuzda klinik ozellikleri ile lameller iktiyoz tanisi konulan cok dusuk dogum agirlikli premature bebek sadece topikal ajanlarla basari ile tedavi edilmistir. Bu vaka nedeni ile konjenital iktiyozlu premature bebeklerin yenidogan yogum bakim unitesindeki bakimi gozden gecirilmistir.

Subkutan yag nekrozu nadir gorulen, eritematoz nodul ve plaklarla seyreden adipoz dokunun inflamatuvar bir hastaligidir. Subkutan yag nekrozu siklikla zamaninda ve zamanindan sonra dogmus bebeklerde yasamin ilk haftalarinda gorulmektedir. Hipoksik dogum ve mekonyum aspirasyon sendromu nedeni ile postnatal 15. saatinde hastanemize gonderilen erkek bebekte ilk basvuruda hipokalsemi, hipoglisemi ve trombositopeni mevcuttu. Dort gunlukken sirtta ve kollarda subkutan yag nekrozu ile uyumlu lezyonlari gelisti, hastada gorulen hipoglisemi, hipokalsemi ve trombositopeninin hipoksi ile iliskili oldugu dusunuldu. Subkutan yag nekrozu genellikle kendiliginden iyilesen bir durum olmasina ragmen, komplikasyonlari acisindan yakin izlemi onemlidir.

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. Copyright (C) 2013, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved.

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.Preterm infants whose gestational age34 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.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).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.

WOS:000393323800004 PubMed: 28123331 Aim: Hypercalciuria is an important cause of urinary tract symptoms, and also frequently results in urolithiasis. Urinary calcium excretion varies for geographic areas. We aimed to assess percentiles of urinary calcium excretion and prevalence of hypercalciuria for school-aged children in Tokat (city located in inner northern region of Turkey). Material and Methods: One thousand three hundred seventy-five children aged 6 to 18 years were enrolled in the study. Urine samples were obtained randomly. The children's variables as sex, age, length, and weight were recorded. Urinary calcium and creatinine determined from the urine samples and urinary calcium/creatinine ratios (mg/mg) were calculated. Percentiles of urinary calcium/creatinine ratios were also assessed for each age of the children. Results: Six hundred eighty-three of the 1 375 children were girls and 692 were boys. The mean age of the children was 11.68 +/- 3.43 years. Some 23.9% of the children were living in rural regions and 76.1% were were living in urban regions. The mean urinary calcium/creatinine ratio was 0.080 +/- 0.24 and the 95th percentile value of the urinary calcium/creatinine ratio was 0.278. The hypercalciuria prevalence for school-aged children was 4.7% when the urinary calcium/creatinine ratio value for hypercalciuria was accepted as >= 0.21. The prevalence of hypercalciuria in rural and urban regions was 7.60% and 3.82%, respectively (p0.05). Conclusion: The prevalence of hypercalciuria and urinary calcium excretion vary for different geographic areas, not only for countries. The percentiles of urinary calcium excretion should be assesed for every geographic region and the prevalance of hypercalciuria should be determined with these values. There is controversy as to whether obesity is a risk factor for hypercalciuria.

Serdaroğlu E, Takcı Ş, Kotarsky H, Çil O, Utine E, Yiğit Ş, Fellman V. A Turkish BCS1L mutation causes GRACILE-like disorder. Turk J Pediatr 2016; 58: 658-661.A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c.296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leighlike condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency

Objectives: Diabetes is a disease that effects fetal development during pregnancy and leads metabolic disorders in newborns. In this study, we aimed to evaluate the problems of infants of diabetic mothers and to determine risk factors of mothers during pregnancy. Material and Methods: The morbidity rates of 31 infants of diabetic mothers who were born and followed in neonatal intensive unit between January 2013 and December 2013 at Gaziosmanpasa University and demographic properties of mothers were retrospectively evaluated. Results: A total of 31 infants were included. The incidence of insulin dependent diabetes mellitus was %22,6 and the incidence of gestational diabetes was 77,4%. Mothers’ mean age was 32,6±7,9 years and HbA1c level was 5,4±1 (4,2-10,2). The mean gestational age of infants was 37,5±1,5 weeks and the mean birth weight of infants was 3322,5± 695,8 g. Macrosomia was present in 32.2% of infants. Hypoglycemia was present in 9,7% of infants, hypocalcemia was seen 3.2%, polycytemia was seen 6.5%, anemia was seen 6.5%, thrombocytopenia was seen 9.2%, hyperbilirubinemia was seen 41.9%, respiratory distress syndrome was seen 12.9%, congenital anomaly was seen 3.7% of all infants. There was no correlation between HbA1c levels of mothers and hypoglycemia, hypocalcemia, anemia and respiratory distress syndrome. Conclusion: Many complications may be prevented with appropriate management, obstetric care and neonatal management in infants of diabetic mother. It is possible to reduce morbidities with the identification of gestational diabetes and metabolic control of hyperglycemia, the determination of risk factors, the close contact between the diabetic mother and her infant in the first hours of delivery and the close follow-up of infants of diabetic mothers with rooming-in who do not need neonatal intensive care unit care., Amaç: Diyabet gebelikte fetal gelişimi etkileyen ve yenidoğanlarda metabolik bozukluklara yol açan bir hastalıktır. Çalışmamızda diyabetik anne bebeklerinin yenidoğan sorunlarının annelerinin gebelik takipleri ile birlikte değerlendirilmesi amaçlanmıştır.Gereç ve yöntem: Çalışmada Gaziosmanpaşa Üniversitesi Tıp Fakültesi Hastanesinde Ocak 2013- Aralık 2013 tarihleri arasında doğan ve yenidoğan yoğun bakım ünitesinde izlenen 31 diyabetik anne bebeğinin morbidite oranları ve annelere ait demografik özellikleri retrospektif olarak değerlendirildi.BulgularÇalışmaya 31 diyabetik anne bebeği alındı. Annelerden 7’si (%22,6) insuline bağımlı diyabet ve 24’ü (%77,4) gestasyonel diyabet tanısı ile takip edilmekte idi. Annelerin ortalama yaşı 32,6±7,9 yıl, ortalama glikolize hemoglobin (HbA1c) değerleri % 5,4±1 (4,2-10,2) saptandı. Bebeklerin ortalama gebelik haftaları 37,5±1,5 hafta, ortalama doğum ağırlığı 3322,5± 695,8 gr. idi, makrozomi sıklığı %32,2 idi. Bebeklerde hipoglisemi %9,7, hipokalsemi %3,2, polistemi %6,5, anemi %19,4, trombositopeni %9,7, hiperbilirubinemi % 41,9, respiratuar distres sendromu %12,9, doğuştan anomali %3,7 oranında bulundu. Annenin HbA1c düzeyi ile hipoglisemi, hipokalsemi, polistemi, anemi, respiratuar distres sendromu arasında ilişki bulunmadı (p>0,05).SonuçDiyabetik anne bebeklerinde uygun medikal yaklaşım, obstetrik bakım ve neonatal yaklaşım ile görülebilecek çoğu komplikasyonun önlenmesi mümkündür. Gestasyonel diyabetin tanımlanması, hipergliseminin kontrol altına alınması ile konjenitalanomaliler ve perinatal ölümler azaltılabilir.Anahtar kelimeler: diyabetik anne bebeği, komplikasyon anomaliler ve perinatal ölümler azaltılabilir.

Background & Aims Primary biliary cirrhosis (PBC) may present in all decades of life, also in childbearing age. Data on maternal and fetal outcome is limited. We aimed to investigate the impact of pregnancy and childbirth on the disease course and possible effects of PBC on fetal outcome. Methods Retrospective study of local cases and a compact review of published reports between 1950 and 2014. Results Our cases along with literature review provided 98 pregnancies in 72 PBC patients. PBC was diagnosed during pregnancy in 26 (36%) patients and 46 (64%) had the diagnosis before conception. Twenty-four (30%) of the pregnancies were associated with biochemical flares and 55 (70%) with clinical improvement or stabilization. De novo onset or worsening of pruritus was seen in 49% (45/92). No maternal deaths were reported. Post-partum disease activation was observed in 60% (53/88). One patient was referred for liver transplantation after delivery. A miscarriage rate of 24% and three stillbirths were reported. Most patients were treated with ursodeoxycholic acid (UDCA) during breastfeeding and 12 patients also received UDCA during the first trimester without any identified side effects. Conclusion Most women with PBC maintain a stable disease during pregnancy, but post-partum biochemical flares are common. Symptomatic pruritus may be challenging in pregnant PBC patients. UDCA appears to be safe during pregnancy and breastfeeding. A successful pregnancy outcome is a realistic expectation for women with PBC.

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.

Aim: ABO incompatibility is a common condition occurring in about 15-25% of all maternal/fetal pairs. The features of ABO incompatibility range from asymptomatic through to severe hemolysis with hyperbilirubinemia and anemia. The aim of this study is to assess the clinical course of ABO incompatibility and to evaluate the effect of blood groups on the severity of neonatal jaundice. Material and Methods: Neonates with ABO hemolytic disease of newborn were retrospectively studied. Risk factors for the severity of jaundice were recorded. Demographic, clinic, and laboratory features were compared in infants with blood groups A and B. Results: Within 13 months, 165 term infants with neonatal jaundice were treated. 32 (19.4%) of these patients had jaundice due to maternal-fetal ABO incompatibility. The O-A group included 23 infants (71.9%) while the O-B group included for 9 infants (28.1%). All the infants received phototherapy while none of the cases required exchange transfusion. Mean total bilirubin level was 15.6p4.5 mg/dl on the 2.9p2.1 days of mean age after the initiation of treatment. There were no differences between the infants with blood group A or B in terms of demographics, initial bilirubin level, anemia in first 24 hours, the rate of hemolysis, and direct Coombs test. Conclusion: ABO incompatibility may have risks of significant hyperbilirubinemia and hemolysis in infants. Neonatal jaundice due to ABO incompatibility can be successfully managed with early admission of intensive phototherapy through close follow-ups. Blood type has no effect on the severity of jaundice. Key words: Neonate; Jaundice; ABO Incompatibility; Blood Group; Phototherapy.

Lymphatic malformations are uncommon, benign and congenital malformations of the lymphatic system exhibiting lack of development of communication between the lymphatic and venous circulation. We report the unusual case of rapidly expanding giant lymphatic malformation of the torso, bilateral axillae and left upper extremity of a newborn. As the first-line treatment, aspiration and sclerotherapy with bleomycin were performed. The sclerotherapy failed to cause regression of the mass, and rapid expansion of the malformation necessitated surgery. Partial resection of the mass was performed. Clinical symptoms of respiratory distress resolved in the early postoperative period, and the patient became hemodynamically stable. However, intrathoracic invasion of the mass developed, leading to restriction of thoracic expansion, ending in death. In conclusion, surgical treatment of giant lymphatic malformations remains challenging.

A preterm infant with isolated fetal ascites was admitted to the neonatal intensive care unit due to the appearance of respiratory distress at birth. An umbilical venous catheter (UVC) was inserted. Abdominal ultrasonography (US) showed localization of the catheter tip in the portal vein. It was removed and replaced with a newer one. UVC tip location was confirmed with X-ray. His condition had been improving until he worsened suddenly on the sixth day of life. US showed hepatic abscess and intraabdominal hemorrhage derived from the malpositioned UVC. A drainage catheter was inserted to the abscess and paracentesis was applied. Practitioners should be cautious about any signs of UVC complications, even if true localization of the catheter tip is proven at the first application. Furthermore, if it is difficult to decide whether the catheter tip is in the right location, confirmation with US can be considered.

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%.

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.

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.

Aim Storage of human milk in refrigerator has been recommended for short term storage. It has been shown that some nutritional, immunological, bioactive properties and bactericidal activity of human milk can alter by refrigeration. Pyrex bottles and polyethylene bags are the two common containers in the setting of storage of human milk. The aim of this study is to compare the effect of the type of storage container on bactericidal activity of human milk at different duration of refrigeration. Methods Forty four samples of human milk were collected from 22 lactating mother. Two samples of human milk were obtained by manual expression from each mother. One was collected directly into sterile pyrex bottles and the other into polyethylene bags. Each sample was divided into three aliquots, one was processed immediately and remaining two were kept at 4°C for 24 and 48 hours. Bactericidal activity of each sample was studied. A strain of E.coli ATCC 25922 was used to determine the bacteridal effect of human milk. Results Bactericidal activity was significantly reduced in milk samples kept in polyethylene bags compared to the samples kept in pyrex bottles when milk samples stored at 4°C for 24 and 48 hours (p Conclusion Short term storage of human milk in pyrex bottles is more appropriate than polyethylene bags for prevention of decrease in bactericidal activity.

Herein, we present a female newborn baby with immune hydrops fetalis who incidentally early diagnosed as homocystinuria upon detection of increased methionine on blood paper chromatography. She was born by caesarian section at 35.2 weeks' gestation to a 34year-old gravida 9, now para 3 mother. Previous six gestations of the mother resulted in intrauterine exitus or postpartum exitus due to Rh hemolytic disease. She had received intrauterine transfusions five times during pregnancy. The genetic analysis of cordocentesis before intrauterine transfusion revealed that the baby was mosaic Turner syndrome. The initial CBC revealed a hematocrit of 18.8%, hemoglobin 6.8 g/dL, MCV 82.2 fL, RDW 15.1%, WBC 17.200/μL, platelets 173.000/ μL, Total/direct bilirubine 5.92/0.01 mg/dL. After an umbilical venous catheter placement, exchange transfusion was performed. Following exchange transfusion intravenous immunoglobuline was given and phototherapy was started. And the baby improved well. Hypermethioninemia is detected on blood paper chromotography and serum homocysteine level showed homocystinuria. On mutation analysis, the baby was found to be homozygous for the mutation, SER349ASN in CBS (cystation beta syntase) gene. Pridoxine treatment was started.

Giriş: Alt solunum yolu enfeksiyonları (ASYE); tüm dünyada çocukluk çağında hastaneye yatış gerektiren ve mortaliteye sebep olan nedenlerin başındagelmektedir. Bu çalışmanın amacı; viral ASYE tanısıyla yenidoğan yoğun bakım ünitesinde (YYBÜ) izlenen hastaların özelliklerinin değerlendirilmesi, viraletkenlerin ortaya konulması ve risk faktörlerinin araştırılmasıdır.Gereç ve Yöntem: Bu çalışmada; bir üniversite hastanesinde 3. basamak YYBÜ’ye Ocak 2018 ve Mart 2020 tarihleri arasında takip ve tedavi için yatırılıp viral ASYEtanısı koyulan hastaların özellikleri ve solunum yolu viral paneli sonuçları geriye dönük olarak incelendi. Hastalar RSV (+) saptananlar ve RSV-dışı viral etkensaptanalar olmak üzere iki gruba ayrıldı ve gruplar karşılaştırıldı.Bulgular: Çalışmaya 24 hasta dahil edildi. SYVP sonuçlarında 6 (%25) hastada RSV-A, 8 (%33,3) hastada RSV-B, 10 (%41,6) hastada RSV dışı viral etkenlersaptandı. RSV saptanan hastalar ile RSV dışı etkenlerin saptandığı hastalar arasında sosyo demografik özellikler açısından fark bulunmazken; RSV saptanangrupta akciğer grafisinde infiltrasyon varlığı (pnömoni) daha fazla, solunum ya da oksijen desteği alma oranı daha yüksek ve ortalama yatış süresi daha uzun olaraksaptandı (p değerleri sırasıyla 0,001, 0,001 ve 0,017). Yatış süresi ile C-reaktif protein düzeyi arasında pozitif yönde, orta düzeyde korelasyon saptandı (r=0,558,p=0,005).Sonuç: YYBÜ’de viral ASYE’de en sık etken RSV olarak bulunmuştur. Bu nedenle YYBÜ’de çalışanların hijyen kurallarına çok dikkat etmeleri veziyaretçilerin de bu konuda ciddi şekilde eğitildikten sonra YYBÜ ortamına alınmaları vurgulanmalıdır. Viral ASYE düşünülen hastalarda erken tanı-tedaviyapılabilmesi ve hastalığın yayılımının önlenebilmesi için viral testlere ulaşımın artırılması ve testlerin yaygınlaştırılması önem arz etmektedir.