Search

Recent studies have shown that the oxidative state plays an important role in the pathophysiology of neuroinflammatory diseases. Determination of erythrocyte arginase, and catalase (CAT), and also plasma and cerebrospinal fluid (CSF) malondialde- hyde (MDA), and nitric oxide (NO) concentrations were measured to establish differences between antioxidant state and lipid peroxidationto assess prognosis in neuroinflammatory disease. Three groups were studied, meningitis ( n = 28), encephalitis (n = 30), and a control group (n = 40) for the spectrophotometric measurements of arginase, and CAT activities in erythrocytes, thiosemicarbazide diacetylmonoxime, and Aebi methods were used respectively. Plasma and CSF MDA levels were analyzed with a modified Yagi method and NO levels were assessed using spectrophotometric methods using the Griess reaction. Levels of erythrocyte arginase, erythrocyte CAT, and CSF NO differed between meningitis and encephalitis ( P< 0.05). While levels of erythrocyte CAT, and CSF MDA, plasma NO and CSF NO concentrations differed between the meningitis group and controls ( P< 0.05). Concentrations of erythrocyte arginase, CSF MDA and plasma NO differed between encephalitis and control groups ( P< 0.05). All tests in the study except erythrocyte arginase and plasma MDA differed between meningitis cases and controls ( P< 0.05). In the meningitis and encephalitis cases, studied oxidative states in blood, and CSF were affected at different levels, meningitis being more severe.

Oculo-aurikulo-vertebral syndrome also referred to as Goldenhar Syndrome is a rare condition described initially by Goldenhar in 1952. Goldenhar Syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. The syndrome is characterized by anomalies of the ear, hemifacial microsomia, and defects of the vertebral column. The etiology of this rare syndrome is not understood completely and seems to be heterogeneous. Management of Goldenhar syndrome requires a multidisciplinary approach to provide most appropriate treatment. Here we report a newborn with Goldenhar Syndrome who presented all classical signs of this rare condition., Goldenhar sendromu olarak da bilinen okülo-aurikulo-vertebral sendrom, ilk kez 1952 yılında Goldenhar tarafından tanımlanmıştır. Goldenhar sendromu birinci ve ikinci brankiyal yarıktan köken alan yapıların konjenital anomalilerini içerir. Kulak anomalileri, hemifasiyal mikrosomi ve vertebral kolon anomalileri ile karakterizedir. Sendromun nedeni tam olarak bilinmemekle birlikte heterojen kaynaklı olduğu düşünülmektedir. Goldenhar sendromunun yönetimi, en uygun tedaviyi sağlamak için multidisipliner yaklaşım gerektirir. Burada sendromun tüm klasik bulgularına sahip Goldenhar sendromlu yenidoğan vakası sunuldu.

Objective: Intrahepatic cholestasis of pregnancy is a clinical syndrome, characterized by maternal pruritus and biochemical cholestasis. Epidemiologic surveys show significant regional differences in the incidence of intrahepatic cholestasis of pregnancy. In this study, we evaluated the frequency of intrahepatic cholestasis of pregnancy and perinatal/neonatal outcomes in our hospital. Methods: Twenty patients with intrahepatic cholestasis of pregnancy and their 22 newborn babies (3 twins), and one intrauterine exitus with unknown etiology were included in this retrospective analysis. Ursodeoxycholic acid was given to 50%of intrahepatic cholestasis of pregnancy patients. Fifteen (65.2%) of the newborn babies were ≤37 weeks. Eight (34.7%) of newborns had transient respiratory support, 2 with continuous positive airway prssure. None of the babies had diagnosed respiratory distress syndrome, thus none of them required surfactant. One case of intrauterine exitus has occured with unknown etiology. Results: We conducted a retrospective study about frequency and perinatal outcome of pregnancies complicated by intrahepatic cholestasis of pregnancy between June 2007-August 2010 at Baskent University Ankara Hospital. Perinatal/neonatal outcomes were retrospectively studied by medical chart review. Conclusion: In our study intrahepatic cholestasis of pregnancy was present in 1.4% of pregnancies, that was similar to the European population. Increased risk of preterm delivery and respiratory distress syndrome were reported in literature, in our study group, none of the babies had RDS or other serious neonatal complications of preterm labor despite high rate of preterm birth rate and rather high levels of maternal serum bile acid levels.

To evaluate the expression of lymphocyte subsets in newborns diagnosed as culture proven or culture negative sepsis and to investigate the differentiation. The aim of this study is to explore neonatal immunology in newborns diagnosed as culture proven or culture negative neonatal sepsis and to identify their place in the diagnosis. This prospective study was performed in newborns who were diagnosed as neonatal sepsis and hospitalized in a tertiary care hospital and who were classified as culture proven sepsis (n = 12), as culture negative sepsis (n = 21) and healthy (n = 17). Lymphocyte subsets were obtained at time of diagnosis. Culture proven sepsis had statistically significant increase of WBC compared to culture negative sepsis and control groups (p < 0.05). Significant decreases were observed of percentage of lymphocyte, when compared to culture negative sepsis and control group (p < 0.05). Percentage of CD4+ was lower in culture proven sepsis and absolute count of CD4+ was lower in culture negative sepsis (p < 0.05). Percentage and absolute count of CD45RA+ were lower in culture negative sepsis than control and percentage of CD45RA+ was lower in culture proven sepsis than control (p < 0.05). Percentage of CD45RO+ was higher in culture proven sepsis than control group (p < 0.05). It is clear that during neonatal sepsis lymphocyte subsets are different from healthy controls. Whether the described abnormalities represent the absence of a normal maturation process, rather, pathological events is still not clear.

Aim. To determine serum IL-1β, IL-6, IL-8, and TNF-α levels in neonatal sepsis at the time of diagnosis and after therapy, and to show the meaningful on the follow up. Methods. This prospective study was performed on newborns who were hospitalized for neonatal sepsis and who were classified as culture-proven sepsis (n=12), as culture-negative sepsis (n=21), and as healthy newborns (n=17). Results. At the time of diagnosis, serum IL-1β, IL-6, IL-8, and TNF-α levels of culture-proven sepsis were significantly higher than those of the control groups (P

Background: Sandifer Syndrome is an uncommon clinical entity characterized by gastroesophageal reflux, irritability and abnormal movements of the body and contortions of the neck. The majority of paroxysmal cases, in particular, tend to show an association with epilepsy. Methods: The clinical, laboratory and 6-month observation results of the four patients (two boys, two girls) have been presented. Results: The 6-month prospective observation/treatment of four patients aged between 2 and 14 months (mean age, 6.5 ± 5.2 months) with a diagnosis of Sandifer Syndrome has been investigated. Due to paroxysmal extensor jerks, two of the patients were misdiagnosed with infantile spasm and they were treated accordingly. In the clinical observations of the patients, abnormal neurobehavioral attacks (irritability, crying, head/eye version, torticollis, extensor spasm and dystonic posture) 5–10 times daily were observed. In two of the patients, motor growth retardation was observed, in one patient, bronchospasm attacks were observed, and in all the patients iron deficiency anemia was observed. The electroencephalograms of the patients which were taken during the routine, sleepless and paroxysmal behaviors were normal; the gastroesophageal scintigraphies were positive in the manner of reflux. Management of the infant with gastroesophageal reflux disease, in addition to nonpharmacological interventions pharmacologic therapy, including metoclopramide HCl and Fe (6 mg/kg per day, oral) was useful for the patients, and their paroxysmal attacks decreased dramatically (0–2 attacks/day). Conclusion: These findings suggest that infants or children with these atypical movements should be evaluated for Sandifer Syndrome. Expensive and comprehensive neurologic examination may be unnecessary. Early diagnosis permits prompt treatment and relief of the problem. Medical management is usually successful.

Fragile X syndrome is an inherited disorder caused by a defective gene on the X chromosome. It is associated with developmental or behavioral symptoms and various degrees of mental retardation. Morphologic abnormalities and altered perfusion of various brain areas can underlie these functional disturbances. The aim of this study was to investigate the cerebral perfusion state in patients with fragile X syndrome using single-photon emission computed tomography (SPECT). Structural and functional assessment was also performed by magnetic resonance imaging (MRI) and electroencephalography (EEG). Eight boys with cytogenetically confirmed fragile X syndrome (mean age 8.8 ± 4.4 years, range 5–18 years), were included. All patients had mental retardation, with a mean IQ of 58.9 ± 8.8 (range 40–68), and additional neurobehavioral symptoms. SPECT revealed cerebral perfusion abnormalities in six patients (75%), most commonly in the frontoparietotemporal area and prominent in the right hemisphere. The SPECT and EEG findings were concordant: hypoperfused areas in SPECT corresponded to regions of persistent slow-wave paroxysms on EEG. On the other hand, cranial MRI was abnormal qualitatively only in two patients (25%) showing cerebellar and vermal hypoplasia and cerebral hemispheric asymmetry. Our results indicate that cerebral perfusion abnormalities, which are correlated with electrophysiologic findings but not necessarily with anatomic abnormalities, can underlie the pathogenesis of the clinical findings observed in fragile X syndrome.

Background Oral administration of probiotics in newborn preterm infants has been shown to be helpful, especially ın reducıng the incidence of necrotizing enterocolitis and overall mortality rates.Objective To evaluate the effect of probıotıc supplementation on ıntestınal colonization by antibiotic-resistant microorganisms in preterm infants receiving antibiotics in a neonatal intensive care unit (NICU).Methods The prospective, randomized trial was performed ın preterm infants who were hospitalized in the NICU at Baskent University Ankara Hospital between January 2011 and February 2012. A total of 51 infants were enrolled and randomly assigned to one of two groups: Group 1 (n=27) received probiotic therapy and Group 2 (n=24) did not receive probiotics. The probiotic used was Lactobacillus reuteri (Biogaia® AB, Sweden). Subjects underwent weekly nasal swab and stool cultures for a maxımum of 6 weeks, and at the tıme of dıscharge ıf thıs was prıor to 6 weeks. All posıtıve cultures were further tested for culture-specıfıc ıdentıfıcatıon and antıbıotıc suceptibility.Results A total of 607 cultures were evaluated. Posıtıve cultures were found ın 37.9% from Group 1 and 35.2% from Group 2. Intestınal colonızatıon by antıbıotıc-resıstant bacterıa dıd not sıgnıfıcantly dıffer between groups (P>0.05). Conclusions Oral supplementation with probiotics do not prevent the intestınal colonization of antibiotic-resistant microorganisms in preterm NICU patıents who receıved antıbıotıc treatment.

Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the prognosis and treatment of the disease. In addition, the data will help the family make informed decisions about future pregnancies.

Purpose: Smoking during pregnancy has several effects and risks on the neonates. The aim is to assess the effects of exposure to environmental tobacco smoke during pregnancy on the antioxidant status of their neonates. Design: In cord blood samples of 116 healthy newborns which were classified into groups according to mothers smoking status (active, passive or non-smoker), the activities of paraoxanase 1 and aryl esterase, concentrations of free sulfhydryl groups and total antioxidant response were studied using appropriate methods. Results: Different parameters indicating antioxidant status had similar values in cord blood of term and preterm neonates of active or passive smoke or non-smoker mothers. Only, concentrations of total antioxidant response were statistically different between cord blood of neonates of active or passive smoker mothers and cord blood of term or preterm neonates of non-smoker mothers (1.12 ± 0.1, 1.10 ± 0.08 and 1.28 ± 0.12 mmol trolox equivalent/L, for term neonates, 0.95 ± 0.0, 1.07 ± 0.13 and 1.22 ± 0.02 mmol trolox equivalent/L, for preterm neonates, respectively). Conclusions: Neonates of active or passive smoker mothers have decreased antioxidant levels in cord blood and may be exposed to an oxidative stress greater.

Cantrell syndrome is a rare syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and the heart. The spectrum of anomalies varies widely. Less than 160 cases have been described in the world literature. We reported a premature infant, with the syndrome. The case with a rare congenital malformation consisting of a pentad of findings: ectopia cordis and absent pericardium and a midline supraumbilical wall defect, evisceration of the intestines and liver, and short sternum. We presented this case because of its rarity and discuss the pathologic findings.

Malignant infantile osteopetrosis is a rare autosomal recessive disorder characterized by presentation in the first few months of life with manifestations relating to an underlying defect in osteoclastic bone resorption. This report describes a 10 day-old boy in whom neonatal hypocalcemia was present and whose brother had died with the diagnosis of osteopetrosis.

No comparative studies have addressed the oxidant and antioxidant states of blood and cerebrospinal fluid. To reveal this differential state, the study was designed to identify the seizure type with the worse prognosis by determining erythrocyte arginase and erythrocyte catalase, plasma and cerebrospinal fluid malondialdehyde, and plasma and cerebrospinal fluid nitric oxide levels. Study groups were classified as febrile (group 1, n = 21), afebrile (group 2, n = 21), and control (group 3, n = 41, subdivided as 3a, febris positive, convulsion negative, and 3b, febris negative, convulsion negative). Levels of erythrocyte arginase, erythrocyte catalase, plasma malondialdehyde, cerebrospinal fluid malondialdehyde, plasma nitric oxide, and cerebrospinal fluid nitric oxide levels were determined for all groups. A difference was detected between the control and febrile seizure groups with respect to erythrocyte catalase and plasma and cerebrospinal fluid levels of nitric oxide (P < 0.05). Both febrile states and convulsions influence oxidative mechanism. Oxidative stress-generating potential differs for febrile and afebrile seizures. In afebrile seizures, greater levels of oxidative stress might affect prognosis adversely. This phenomenon can be interpreted in terms of fever as a protective factor against possible neurological damage during convulsive seizures.

Background In this study we aimed to investigate the relationship between maternal and neonatal 25(OH)D levels. Methods The subjects were 58 mothers and their newborns who were born between February 2012 and April 2012. Blood specimens were obtained within 72 h of birth and from mothers. Serum 25(OH)D concentrations were measured. Vitamin D deficiency was defined as serum concentrations ≤20 ng/mL. Results The mean gestational age and birth weight of preterm infants were 33.06 ± 2.2 weeks and 2125.4 ± 546 g and for term infants were 38.84 ± 1 weeks and 3470.3 ± 451 g, respectively. Sociodemographic characteristics of mothers were not significantly different between groups. Twelve percent of infants born before 32 completed weeks, 16% infants born between 32–36 weeks and 28% of term infants had vitamin D deficiency. Vitamin D deficiency was found in 27% mothers of preterm infants and 42% mothers of term infants. Conclusion Vitamin D receptors plays an important role in calcium absorption and bone metabolism. In the literature there are reports that vitamin D deficiency during pregnancy had adverse gestational outcomes including risk of pre-eclampsia, gestational diabetes. The mean vitamin D levels were normal in infants whereas their mothers had low levels of vitamin D. When we consider that all mothers in the study received vitamin D supplements, we should give appropriate vitamin D prophylaxis during pregnancy. Also we should give adequate vitamin D supplementation to the infants without any delay.

more common (p 4500 g was higher than the non-IDMs (p 4500 g (n=40), caesarean delivery (p=0.012), hypoglycemia (p=0.003) and polycythemia (p