Brain MRI and MR Spectroscopy Findings in Children with Nutritional Vitamin B12 Deficiency.

INTRODUCTION: Our aim in this study was to analyze the findings of brain magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of children with vitamin B12 deficiency. METHODS: This study included 14 cases. The findings of brain MRI and MRS in all cases were investigated. Four patients had been followed up and mean follow-up time 71.8 (59-85) day. RESULTS: Eight patients of the cases (57 %) had at least one abnormal MRI finding. The most commonly found MRI findings were thinning of the corpus callosum and brain atrophy, respectively. The mean ratio of NAA/Cr and Cho/Cr were measured in MRS, with values of 1.31 ± 0.17 and 1.04 ± 0.27, respectively. In two of three patients with abnormal MRI studies at presentation, subsequent MRI showed improvement while one patient remained unchanged. An increase in the ratios of metabolites were found in one case with control MRS. There was no lactate peak. CONCLUSION: Brain MRI was abnormal in more than half of the cases of children with vitamin B12 deficiency. Our radiologic findings similar with literature. There was no identifiable lactate peak. B12 deficiency could be the cause of the thinning of the corpus callosum and brain atrophy in the children that were given a brain MRI.

Effects of modafinil on pentylenetetrazol-induced convulsive epilepsy.

Modafinil, is a wake-promoting drug approved by Food and Drugs Administration (FDA) for narcolepsy and sleep-apnoe syndrome. Although the mechanism underlying its arousal action remains elusive, it is known to increase glutamatergic, histaminergic, noradrenergic and dopaminergic transmission and decrease GABA release in different regions of the brain, which are all known to be involved in pathophysiology of epilepsy. In the present study, the effects of modafinil on pentylenetetrazol (PTZ) induced convulsive epilepsy were investigated in rats. Five experimental groups were formed for this purpose and each group was administered five different doses of modafinil (1, 2, 4, 45, 180 mg/kg, i.p) for seven days. All groups were administered PTZ (80 mg/kg, i.p) 2 hours after the final dose and the epileptic seizure activity was evaluated. According to the results; we detected that modafinil delayed the onset of the first myoclonic jerk and decreased the total major seizure period between 2-180 mg/kg doses and did not affect the major seizure onset period at any of the doses administrated. These results imply that modafinil exerts a dose dependent antiepileptic effect on PTZ induced convulsive epilepsy in rats (Tab. 1, Fig. 3, Ref, 42).

The protective effects of endothelin-A receptor antagonist BQ-123 in pentylenetetrazole-induced seizure in rats.

Endothelin-1 has been shown to increase neuronal activity and glutaminergic synaptic transmission by endothelin-A receptors (ETAR) in the nucleus tractus solitarius neurons that play an important role in epileptic seizures. Therefore, BQ-123 as an ETAR antagonist might attenuate neuronal excitability and glutaminergic synaptic transmission. The main purpose of the present study is to investigate the protective effect of acute BQ-123 treatment against pentylenetetrazole (PTZ)-induced tonic-clonic seizures. Wistar albino rats were divided into three groups: control, PTZ, and PTZ + BQ-123 groups. BQ-123 (3 mg/kg, intravenously) was administered for 15 min before injecting with PTZ (50 mg/kg, intraperitoneally). We determined a delay resulting from BQ-123 in "duration of the seizure onset." "Number of rats with major seizure" also decreased according to scoring with video camera in PTZ + BQ-123 group. In BQ-123-treated group, there were eight rats without a major seizure, but only one rat had a delayed major seizure. The brain tissue glutathione peroxidase activity was significantly decreased in the PTZ and PTZ + BQ-123 groups. According to the results of the control group, there was a significant increase in the protein carbonyl levels of the PTZ group and a significant increase in the nitric oxide levels of the PTZ + BQ-123 group. Histological examination showed an increase in the number of neuronal hyperchromatic nucleus especially in hippocampal gyrus dentatus region of BQ-123-treated group. We concluded that BQ-123 impeded the formation and spread of seizure to a great degree. The beneficial effects of BQ-123 were comparatively supported with biochemical parameters and histological examinations.

Confirmed penicillin allergy among patients receiving benzathine penicillin prophylaxis for acute rheumatic fever.

BACKGROUND: Beta-lactam antibiotics are the most frequent drugs prescribed in children worldwide. Acute rheumatic fever (ARF) is the major cause of acquired heart disease among children and adolescents. Recurrences due to inadequate penicillin prophylaxis are responsible for chronic valvular lesions requiring surgery. The fear of a severe allergic reaction is the leading cause of discontinuing prophylaxis. OBJECTIVE: In this study, we aimed to reveal the frequency of adverse events and real allergic reactions to benzathine penicillin among children who are followed in our paediatric cardiology clinic with a diagnosis of ARF. MATERIALS METHODS: The children who were followed with a diagnosis of ARF between January 2005 and December 2011 were searched for a history of penicillin allergy. Patients with a positive history were evaluated in our paediatric allergy clinic. Skin tests and provocation tests were performed with parental consent. RESULTS: In total 535 children with a diagnosis of ARF were analysed for the study. Median follow up period was 24 months (12-36) [median (%25-75)]. Eleven of our 535 (11/17.641 injection) ARF patients were suspected to have allergic reactions after 17.641 penicillin injections but only one (0.18%) was diagnosed to have penicillin allergy after detailed evaluation. CONCLUSION: Our data suggest that the frequency of penicillin allergy is much lower than suspected among children on penicillin prophylaxis for ARF. Consequently, penicillin prophylaxis should not be given up without proper evaluation of drug allergy.

Variations of the celiac trunk and hepatic arteries: a study with 64-detector computed tomographic angiography.

OBJECTIVES: The aim of the present study was to evaluate variations in celiac trunk and hepatic artery with multi-detector computed tomography (MDCT). PATIENTS AND METHODS: Totally 820 patients who underwent angiography of the abdominal aorta were evaluated. Anatomical findings were grouped according to the Michels classification. RESULTS: Several variations and/or anomalies were noted in 33.2% of the patients (n=272). The most common abnormality was Michels type III (10.1%), followed by type V (7.3%), type II (4.7%) and others. Type X was not observed in our series. We have noted additional, previously unclassified variations in 12 cases (1.5%). CONCLUSIONS: Preoperative knowledge of variant anatomy may assist in the selection of treatment options and surgical planning, which in turn facilitates surgical dissection and helps avoiding iatrogenic injury. MDCT angiography allows detailed visualization of the vascular anatomy.

Relationship between 18 FDG PET-CT findings and the survival of 177 patients with malignant pleural mesothelioma.

BACKGROUND AND OBJECTIVES: Malignant pleural mesothelioma (MPM) is a fatal malignancy. Radiological imaging is necessary for the diagnosis, staging, and clinical management of patients with MPM. The 18 fluorodeoxyglucose positron emission tomography (18 FDG-PET) scan has proven useful in preoperative staging and as a prognostic tool in MPM. We aimed to investigate the relationship between the pre-treatment 18 FDG PET/CT results, together with other known clinical parameters, and the survival of patients with MPM in our region. PATIENTS AND METHODS: A retrospective analysis was performed on the data of 177 patients with MPM between April 2007 and April 2011. Pre-treatment 18 FDG PET/CT scans were done on all patients. Survival time was calculated by the Kaplan-Meier method. RESULTS: The mean age was 55.40 years. There were 56% male patients and 44% female patients. The mean survival time was 11 months from time of diagnosis. According to multivariate analysis results, being of male gender increased the poor prognosis 5.30 times, a Karnofsky performance score (KPS) < 60 increased a poor prognosis 2.18 times, being on "best supportive care" increased a poor prognosis 25.40 times, the stage III-IV increased a poor prognosis 11.13 times, and a level of maximum standardized uptake value (SUVmax) > 5 increased a poor prognosis 4.34 times. CONCLUSIONS: MPM remains a fatal prognosis. Significant predictors of survival include KPS, stage of disease, gender, treatment regimen and level of SUVmax. An understanding of the importance of these markers for MPM prognosis should allow targeted treatments to be developed.

Cerebral venous sinus thrombosis: an analyses of 47 patients.

OBJECTIVE: Cerebral venous sinus thrombosis (CVST) is an extremely rare disease and its early treatment is important for decreasing the morbidity and mortality. In present study, it was investigated to clinical and etiological factors, localization features, treatment, and prognosis of patients with CVST. PATIENTS AND METHODS: The study group included CVST cases who were followed up between January 2008 and June 2010. Demographical, clinical, radiological, etiological and prognostic characteristics of 47 patients with CVST were retrospectively investigated. RESULTS: Presentation complaints of the patients were as follows in order: acute and/or sub-acute headache (80.8%), impaired consciousness (25.5%), ear complaints (21.3%), paresis (19.1%) and epileptic seizures (14.9%). Chronic daily headache without any signs of neurological deficit was found in 10.6% of cases. Neurologic examinations of 40.4% of the CSVT patients were found to be normal. The most frequently found etiological factors were as follows: MTHFR gene mutation (25.5%), local infections due to chronic otitis complications (21.3%), puerperium (17%), pregnancy (12.8%), lupus anticoagulant positivity (12.8%). The sigmoid sinus was found to be involved in 35 patients (74.5%), the transverse sinus in 29 (61.7%) and superior sagittal sinus in 21 (44.7%). Impaired consciousness (p = 0.046), hemorrhagic infarct (p = 0.017), acute onset (p = 0.026), and presence of hemiparesis (p = 0.019) were found to be associated with increased mortality. CONCLUSIONS: New onset sub-acute or chronic headache may be the only neurologic complaint of CVST patients. Early diagnosis and anticoagulant treatment may decrease mortality and/or morbidity rates related with CVST in these patients.

Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling.

Fraser syndrome is a rare autosomal recessive genetic disorder characterized by cryptophthalmus, variable expression of cutaneous syndactyly of fingers and toes, genital ambiguity and renal agenesis/dysgenesis. We present here molecular and clinical findings of four fetuses with FS from two families. Molecular genetic studies in the two families revealed mutations in FRAS1 gene allowing better genetic counselling and subsequent prenatal diagnosis in one of the two families. In family one, a nonsense mutation (c.3730C>T, p.R1244X) previously described in a Polish patient was found. In family two a novel nonsense mutation previously not known was detected (c.370C>T, p.R124X). PGD is planned for family 1.

Reduced uterine perfusion pressure model is not successful to mimic severe preeclampsia.

The aim of the study was to investigate maternal (hemoglobin, hematocrit, and biochemical parameters of blood and urine) and fetal parameters (number and weight of alive fetus) of preeclampsia in a rat model. Placental oxidative stress markers (protein carbonyl, malondialdehyde) and placental antioxidant values (CuZn-superoxide dismutase, glutathione peroxidase) were also measured. Preeclampsia was induced experimentally in timed-pregnant Sprague-Dawley rats by using the reduced uterine perfusion pressure (RUPP) model. Placental oxidative stress that plays a key role in the pathophysiology of placenta-related disorders, most notably preeclampsia (PE) and intrauterine growth restriction (IUGR) were demonstrated by using RUPP model. On day 14 of gestation, silver clips were placed around the aorta below the renal arteries and on the left and right uterine arcade at the ovarian artery. In the RUPP model animals (n = 15), when compared with the normotensive controls (n = 15), arterial pressure on day 19 of gestation was significantly higher in the RUPP rats (151.7 ± 17.6 mmHg) than normal pregnant rats (113.9 ± 11.4 mmHg). The RUPP rats showed a significant increase in protein excretion when compared with the normal pregnant rats (0.3 ± 0.04 vs 0.47 ± 0.07 g/dL) (p < 0.05). Associated with the hypertension in RUPP rats, placental levels of malondialdehyde (2.4 ± 0.2 vs. 1.6 ± 0.2 umol/gm tissue) and protein carbonyl (1.4 ± 0.3 vs. 0.9 ± 0.3 nmol/mg protein) were increased, while superoxid dismutase (0.03 vs 0.42 U/mg protein) and glutathione peroxidase (1.04 ± 0.31 vs 0.76 ± 0.22 U/g protein) were decreased. Pup number (6.6 ± 3.1 vs. 9.93 ± 2.0) and litter weight (17.4 ± 7.7 vs. 22.9 ± 6.7 g) were lower in the preeclamptic group. None of the complete blood counts and biochemical values other than sodium and chlorine were significantly different in preeclamptic group. Our findings suggest that the RUPP model cannot mimic severe preeclampsia; however, further studies using different settings may be helpful to obtain a preeclampsia model that is capable of successfully producing severe preeclampsia findings.

Evaluation of pulmonary vein variations in the middle pulmonary lobe with 64-slice multidetector computed tomography.

PURPOSE: To evaluate the multi detector computed tomographic (CT) depiction of middle lobe vein variation of the right pulmonary vein and create a diagram for cardiologist and cardiovascular surgeons. MATERIALS AND METHODS: According to hospital records, between January 2009 and April 2010, 314 consecutive patients underwent pulmonary CT angiography (CTPA) and coronary CT angiography. The CT films from these patients were retrospectively analyzed. RESULTS: Under normal conditions, the middle pulmonary vein (MPV) drains into the left atrium either by the "direct" or "indirect" route. Direct (37 patients, 11.8%) drainage means that the MPV does not drain into the upper or lower pulmonary veins but instead drains directly into the right pulmonary vein system. In contrast, indirect (276 patients, 87.9%) drainage occurs when the MPV drains into the upper or lower pulmonary veins. In this study, 12 different variations in drainage patterns were found. CONCLUSION: Increasing the number of patients may have led to the identification of additional variants. However, clinically important variations are rarely seen. Correct mapping of the MPV is very important for cardiologists and for surgeons in order to provide the best treatment and avoid complications.

Public Knowledge and Attitude toward Crimean Congo Hemorrhagic Fever in Tokat Turkey.

BACKGROUND: The World health Organization (WHO) declares Crimean Congo hemorrhagic fever (CCHF) endemic in Turkey. Despite the magnitude of problem, no documented evidence exists in Turkey, which reveals the awareness and practices of the country's adult population regarding CCHF, its spread, symptoms, treatment, and prevention. This study was conducted to assess the level of knowledge, attitudes, and practices regarding CCHF in people visiting tertiary care hospital in Tokat, Turkey. METHODS: This questionnaire based cross-sectional survey was conducted among patients' relatives or guardians who admitted pediatric outpatient clinics during May-July 2008. The questionnaire was composed of 25 questions. RESULTS: A total of 1034 respondents participated in the survey. Sufficient knowledge about CCHF was not found in 28.9% of the sample. Literate individuals were relatively better informed about CCHF as compared to the illiterate people. Television and radio were considered as the most important and useful source of information on the disease. CONCLUSION: We have found insufficient knowledge on CCHF in our population. It is thought to have no chance of success against a fatal disease such as CCHF, which has serious consequences, without the contribution of community. It is clear that there are important tasks for health, agriculture, and media sectors to improve public knowledge and awareness about CCHF.

Goldenhar syndrome associated with growth hormone deficiency.

Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome. He also had a parachute mitral valve and growth hormone deficiency. Parachute mitral valve is a previously unreported finding while growth hormone deficiency was reported just in one case in the literature.

Prevalence of interatrial septal aneurysm in newborns and their natural course.

The objective of this study was to evaluate the prevalence of atrial septal aneurysm (ASA) in newborns, to define the natural course of ASA, and to investigate its role on closure of associated interatrial septal opening (IASO). A total of 1072 consecutive neonates were examined with echocardiography in the early postnatal period. The length of the interatrial septum, the diameter of IASO, the excursion and base of aneurysm, and the width of the related atrium were measured and the excursion ratio and the basal ratio were calculated for each neonate. Aneurysms with an excursion ratio > or = 25% were diagnosed as ASA. There were 81 neonates (7.6%) with ASA. The prevalence of ASA was 11.1% in preterm (14 of 126) and 7.1% in full-term newborns (67 of 946). All of the ASAs disappeared at the end of the first year of life, and there were no complications related to the lesion during the follow-up period. Although overall IASO prevalence was 78.6% (843 of 1072), it was 72.8% (59 of 81) among the cases with ASA. Although the disappearance time of interatrial septal shunt was not significantly different between the cases with and without ASA, spontaneous closure was less frequent in the cases with ASA than in those without ASA 77.7 and 96.1%), respectively (p < 0.001). The prevalence of ASA is high among newborns, with a high resolution rate. Therefore, it can be considered that it is benign and transient observation. Less frequent spontaneous closure of IASO in cases with ASA indicates that ASA may have a deleterious effect on spontaneous closure.

Hypertrophic osteoarthropathy in a child with biliary atresia.

Hypertrophic osteoarthropathy is a syndrome characterized by clubbing of the digits of the hand/foot, periosteal reaction and arthralgia or arthritis which is usually secondary to cyanotic congenital heart disease and chronic pulmonary infections. This syndrome rarely occurs in association with chronic liver disease in childhood. Here, we report on a child with biliary atresia who developed arthralgia and arthritis during follow-up and which was diagnosed as hepatic hypertrophic osteoarthropathy. It is emphasized that hypertrophic osteoarthropathy should be considered in the differential diagnosis of arthralgia and arthritis in children with long-standing chronic liver diseases, especially if finger clubbing is also present.

Homozygous ß-Thalassemia (FCS8-AA) and Hereditary Spherocytosis in the Same Patient.

A three-year old Turkish girl having both homozygous ß-thalassemia and hereditary spherocytosis and her family have been studied. The molecular defect causing thalassemia in the family was of the frame shift codon 8 (-AA) mutation type. The diagnosis of hereditary spherocytosis is based on osmotic fragility test in the patient and the family. However, the examination of erythrocyte membrane proteins has not been possible. ßthalassemia is in the heterozygous form in the mother, the father, and in two sisters. The mother, the father, and one of the sisters also have hereditary spherocytosis in addition to thalassemia. All those family members are asymptomatic. However, the patient who has frame shift codon 8 homozygosity along with hereditary spherocytosis presented with a severe form of hemolytic anemia.