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Öğe Neuron-specific enolase as a marker of the severity and outcome of hypoxic ischemic encephalopathy(Elsevier Science Bv, 2004) Çeltik, C; Acunas, B; Öner, N; Pala, ÖThe aim of this study was to evaluate serum concentrations of neuron-specific enolase (NSE) as a marker of the severity of hypoxic ischemic encephalopathy (HIE) and to elucidate the relation among the concentrations of NSE, grade of HIE and short-term outcome. Forty-three asphyxiated full-term newborn infants who developed symptoms and signs of HIE (Group 1) and 29 full-term newborn infants with meconium-stained amniotic fluid but with normal physical examination (Group 2) were studied with serial neurological examination, Denver developmental screening test (DDST), electroencephalogram and computerized cerebral tomography (CT) for neurological follow-up. Thirty healthy infants were selected as the control group. In the patient groups, two blood samples were taken to measure NSE levels, one between 4 and 48 It and the other 5-7 days after birth. Serum NSE levels were significantly higher in infants with HIE compared to those infants in Group 2 and control group. The mean serum concentrations of the second samples decreased in all groups studied but they were significantly higher in Group I compared to those in Group 2. Serum NSE concentrations of initial samples were significantly higher in patients with stage III HIE than in those with stages 11 and I. The sensitivity and specificity values of serum NSE as a predictor of HIE of moderate or severe degree (cut-off value 40.0 mug/l) were 79 and 70%, respectively, and as a predictor of poor outcome (cut-off value 45.4 mug/l) were calculated as 84 and 70%, respectively. The predictive capacity of serum NSE concentrations for poor outcome seems to be better than predicting HIE of moderate or severe degree. However, earlier and/or CSF samples may be required to establish serum NSE as an early marker for the application of neuroprotective strategies. (C) 2004 Elsevier B.V. All rights reserved.Öğe A newborn infant with left diaphragm agenesis, radial aplasia and preauricular appendices(Lippincott Williams & Wilkins, 2004) Öner, N; Basaran, ÜN; Yalçin, Ö; Vatansever, Ü; Acunas, BWe report the case of a baby girl born to consanguineous parents who died 36 hours after birth. She had multiple preauricular appendices, right radial aplasia, triphalangeal thumb and several other anomalies. Differential diagnosis included Fryns syndrome, Pallister-Killian syndrome, and hemifacial microsomia. However, since our patient had congenital diaphragmatic hernia, a rare finding in hemifacial microsomia we suggest that she had a variant form of hemifacial microsomia or an undescribed new syndrome.Öğe Systemic lupus erythematosus presenting with generalized lymphadenopathy -: A case report(Turkish J Pediatrics, 2001) Biner, B; Acunas, B; Karasalihoglu, S; Vatansever, ÜSystemic lupus erythematosus (SLE) is an immune complex disease with many different clinical presentations. Here we report a 13-year-old female patient presenting with generalized lymphadenopathy, who meanwhile developed butterflly rash and pericarditis. The diagnosis of SLE was based on the clinical features, positive antinuclear antibody, and positive antibodies to dsDNA. The patient had an active disease and developed renal involvement, despite steroid therapy. The patient's clinical presentation, course and response to therapy are detailed, and the literature on lupus lymphadenitis is reviewed.Öğe Thrombocytopenia(Blackwell Science Asia, 2000) Acunas, B; Çeltik, C; Vatansever, Ü; Karasalihoglu, SBackground: The conventional therapeutic approach in polycythemic newborn infants is to apply partial exchange transfusion (PET) when hematocrit value exceeds 70% or when the infant develops symptoms with the exception of plethora. Methods: In order to investigate the possibility of using platelet count as a simple criterion implying the PET requirement, we retrospectively reviewed polycythemic newborn infants with respect to the relationship between thrombocytopenia and severity of symptoms, and the association of platelet count and the PET performance. Thrombocytopenia has been defined as a platelet count < 150 000/mu L. Results: We studied 18 polycythemic infants with thrombocytopenia (group 1, 35%) and 34 without it (group 2, 65%). Perinatal asphyxia, gestational toxemia and intrauterine growth retardation, which are the three common causative factors leading to polycythemia, were not significantly different in the two groups. No correlation existed between platelet counts and hematocrit values within each group, but there was a very significant difference between the two groups in terms of severity of clinical findings (P < 0001); no difference in terms of moderate findings and moderately significant difference with respect to mild symptoms and asymptomatic situation (P < 0.05). Partial exchange transfusion was performed in all patients in group 1, while only 12 infants in group 2 (32%) received transfusion and the difference was statistically significant (P < 0.05). A significant rise in platelet counts has been achieved only in group 1, while hematocrit values decreased significantly in both groups following PET. Conclusions: This study emphasizes the relationship between thrombocytopenia and the severity of clinical findings and PET performance rate in polycythaemic newborn infants, implying that thrombocytopenia is a possible marker of hyperviscosity, the results of which warrant further investigation.Öğe VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient(Lippincott Williams & Wilkins, 2004) Vatansever, Ü; Basaran, ÜN; Güzel, A; Acunas, B; Balci, SThe association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) with hydrocephalus (VACTERL-H) has recently been described. Both X linked and autosomal recessive forms have been described which are mostly indistinguishable clinically. Here we report a female newborn infant with hydrocephalus detected antenatally, oesophageal atresia with tracheo-oesophageal fistula, anal atresia, renal and vertebral anomalies, and triphalangeal thumb as well as primary hypothyroidism.Öğe Wolf-Hirschhom syndrome with posterior intraorbital coloboma cyst: an unusual case(Elsevier Science Bv, 2004) Tutunculer, F; Acunas, B; Hicdonmez, T; Deviren, A; Pelitli, VWolf-Hirschhorm syndrome (WHS) is associated with partial deletion of short arm of chromosome 4, and characterized by severe growth retardation. Other characteristic features are microcephaly, intellectual handicap, Greek helmet facies and closure deficits such as cleft lip or cleft palate, coloboma of the eye, and cardiac septal defect. We herein present a new case of WHS with bilateral iris colobomata and a left intraorbital large coloboma cyst causing exophthalmos. (C) 2003 Elsevier B.V. All rights reserved.