Barbaros Ilıkkan

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a novel nonsense mutation in the IL1RN gene, associated with early intrauterine onset, death and multiorgan involvement in a prematurely born baby. The protein prediction model indicated that the novel Q119X mutation would result in a nonfunctional protein by impairing the ability of the IL-1Ra to bind and antagonize signaling through the IL-1R. Since the disorder may mimic severe bacterial infections and the treatment with anakinra is life saving, we intend to raise awareness of the syndrome and the possibility of a founder mutation that may lead to the diagnosis of additional cases in Turkey. The clinical suspicion of DIRA is critical to avoid improper management of the patients with antibiotics alone and death from multiorgan failure.

Intraventricular hemorrhage in preterm newborns: Risk factors and results from a University Hospital in Istanbul, 8 years after

Background: In this prospective study, the authors aimed to show intraventricular hemorrhage (IVH) incidence of premature newborns in the Neonatal Intensive Care Unit of Cerrahpasa Faculty of Medicine, Istanbul, Turkey, and its risk factors, and they tried to compare these results with those they reported 8 years ago.

Cardiac effects of a single course of antenatal betamethasone in preterm infants

Aim: To show the effects of a single course of antenatal betamethasone on cardiac measurements and systolic functions in premature newborn infants. Methods: Seventy six newborn infants with a gestational age of 25–33 weeks were included in the study. They were first classified according to their gestational age: 25–29 weeks (n  =  28) and 30–33 weeks (n  =  48). They were then reclassified as betamethasone positive (mother received one course of betamethasone) or betamethasone negative (mother did not receive any antenatal glucocorticoid treatment). Cross sectional M mode echocardiographic scans were performed during the first three postnatal days and at the end of the first and third weeks. Left interventricular septum (IVS), left ventricular posterior wall (LVPW), left ventricular end diastolic (LVED), and left ventricular end systolic (LVES) dimensions, aortic root (AO), and left atrial diameters (LAs) were measured. The IVS to LVPW ratio was calculated to identify asymmetrical septal hypertrophy. Results: In neither group was any statistically significant difference noted in IVS, LVED, LVES, LVPW, LA, and AO measurements during the three cardiac ultrasonography scans. Systolic function, as assessed by fractional shortening, was not significantly different in infants who received betamethasone antenatally, in either age group. There was no difference in the IVS/LVPW ratios between those who received antenatal steroid and those who did not for the 25–29 week and 30–33 week groups during these three consecutive scans. Conclusion: One course of antenatal betamethasone did not affect the cardiac wall thicknesses and systolic function in premature infants.

A premature newborn with vesiculobullous skin lesions.

Although the rate of congenital syphilis is declining in Western Europe and in the USA, a significant increase is observed in the developing countries. In this contribution, a newborn with cutaneous manifestations of congenital syphilis is presented. Conclusion: Pediatricians should be attentive when confronted with vesiculobullous skin lesions in a newborn, and congenital syphilis should be considered in the differential diagnosis.

The relationship of active ghrelin levels and intrauterine growth in preterm infants

OBJECTIVE We examined the association of active ghrelin levels with birth weight, sex, and gestational age (GA) in small for GA (SGA) and appropriate for GA (AGA) preterm infants. METHODS Active ghrelin levels were measured by ELISA method during the first five postnatal days in 38 preterm SGA infants and 32 preterm AGA controls. RESULTS Active ghrelin levels were significantly higher in preterm SGA infants than in preterm AGA controls (P < 0.01). Active ghrelin levels in preterms with birth weight <1500 g were statistically higher than those over 1500 g. Active ghrelin levels in preterms ≤ 34 gestational weeks were similar to those over 34 weeks. A negative correlation was detected between active ghrelin levels and birth weight (r = -0.561, P < 0.0001) as well as GA (r = -0.449, P < 0.0001). CONCLUSION We found significantly higher active ghrelin levels in SGA preterms than those in AGA preterms and demonstrated a negative correlation between active ghrelin levels and birth weight in preterm infants. This was the first study showing a negative correlation between active ghrelin levels and birth weight in preterm infants.

Amebiasis in infancy in the middle-high socioeconomic class in Istanbul, Turkey.

Amebiasis is a major cause of morbidity and mortality worldwide. We present 11 children with acute Entamoeba histolytica infection. None of the infants developed extraintestinal disease or required hospitalization. Light microscopy results correlated with stool antigen test for E. histolytica. Breast-feeding and middle-high socioeconomic status does not protect infants from infection with E. histolytica in endemic areas.

Yenidoğan yoğun bakım ünitesinde izlenen hastalarda flora kazanımı ve enfeksiyon ilişkisinin araştırılması: Cerrahpaşa deneyimi Orijinal Araştırma

Yenidogan Yogun Bakim Unitesinde izlenen ve tedavi edilen hastalarin flora kazanimlarini ve bunlarin enfeksiyon gelisimindeki rollerini arastirmak amaciyla 8 aylik donem icinde 53 olguda kolonizasyon surveyansi calismasi yapilmistir Toplam 1210 ornek incelenmis 613’unde ureme tespit edilmiotir Ureme saptanan orneklerden 599 bakteri 14 maya kokeni izole edilmistir K pneumoniae 43 en sik koagulaz negatif stafilokoklar ise 26 ikinci siklikta tanimlanan bakteriler olmustur Gram negatif comaklarda 3 kusak sefalosporinlere ve aminoglikozidlere stafilokoklarda metisiline streptokoklarda penisiline yuksek duzeyde direnc saptanmistir Kolonize olan kokenler cevre yuzeyleri ve el kulturlerinden izole edilmis direncli yogun bakim florasinin hastalar arasi aktariminda saglik calisanlarinin ve tedavide kullanilan ekipmanlarin onemli rol oynadigi tespit edilmistir Ortalama kolonizasyon baslangici oral beslenmeye gecisle parelel sekilde 5 3±3 2 gun olarak belirlenmistir Orogastrik sonda ile beslenmenin ve yogun bakimda uzun sure kalmanin yogun bakim florasi ile kolonize olmayi kolaylastirdigi saptanmistir Olgularimizda 17 oraninda nozokomiyal pnomoni 6 oraninda “gec sepsis” gelismistir K pneumoniae 38 P aeruginosa 17 C albicans 8 oraninda nozokomiyal enfeksiyon etkeni olmustur Anahtar Kelimeler: Yenidogan epidemiyoloji kolonizasyon enfeksiyon

Trizomi 13 Sendromu: İki Olgunun Sunumu

Trisomy 13 was found in the karyotypes of a one day old boy with microphtalmia hipotelorism localized scalp defects polidactyly and of a one day old girl with cleft lip and cleft palate Both cases died because of heavy cardiac malformations Trisomy 13 syndrome is characterized by cranio fascial anomalies microcephaly microphtalmia cleft lip cleft palate localized scalp defects in the parieto occipital area polidactyly and holoprosencephaly type defects Being rare trisomic syndrome we piked to discuss these cases in view of the literature Key words: Trisomy 13 Syndrome Capillary Hemangiomata Polidactyly Scalp Defect Cerebellar Hypoplasia

Yenidoğan Yoğun Bakım Ünitesinde Umbilikal Kateter Kullanımına Bağlı Sepsis Sıklığı

Ocak 1993 Ekim 1995 tarihleri arasinda yenidogan unitemizde yatirilan ve umbilikal kateter takilmasi gereken 170 yenidoganda katetere bagli sepsis sikligi retrospeklif olarak degerlendirildi Unitemizde solunum sorunu olan bu nedenle yardimci ventilasyon gerektiren kan degisimi uygulanan ve 1250 gr altindaki parenteral sivi verilmesi gerekli tum yenidoganlara umbilikal kateter takilmaktadir Kateter takilan hastalarin 63 unu solunum sorunu olan yenidoganlar olusturuyordu; hastalarin 21 ine 1250 gr altinda olduklari icin parenteral beslenme amaciyla kateter takildi Kateterin takili oldugu donemde hastalardan duzenli hemokultur alinarak infeksiyon acisindan izlendi; periferik venden alinan kulturde ureme saptandiginda veya klinik ve laboratuar bulgulari ile desteklendiginde sepsis tanisi konuldu Sepsis sikligi umblikal arter ve ven kateteri takilan olgularda sirasiyla 29 ve 16 5 bulundu Enfeksiyon etkeni olarak en sik klebsiella pneumonia ve staphylococcus epidermidis saptandi Umbilikal arter ve ven kateteri takilan olgular kateterizasyon suresine gore sinirlandirildiginda bes gunden uzun sureli kateterizasyonun enfeksiyon sikligini anlamli olarak arttirdigi goruldu p lt;0 05 Anahtar kelimeler: Umbilikal Kateter Septisemi Yenidogan