Search

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood.

Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice. Results Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median

Venous thromboembolism is an important complication after general and cardiac surgery. Using transthoracic echocardiography, this study assessed the incidence of inferior vena cava (IVC) thrombosis among a total of 395 and 289 cardiac surgical and major surgical patients in the immediate postoperative period after cardiac and major surgery, respectively. All transthoracic echocardiography was performed by a specialist intensivist within 24 hours after surgery with special emphasis on using the subcostal view in the supine position to visualise the IVC. Of the 395 cardiac surgical patients studied, the IVC was successfully visualised using the subcostal view in 315 patients (79.8%) and eight of these patients (2.5%) had a partially obstructive thrombosis in the IVC. In 250 out of 289 (85%) general surgical patients, the IVC was also clearly visualised, but only one patient (0.4%) had an IVC thrombosis (2.5 vs 0.4%, P

In 1991, a large family was described with an autosomal dominant inheritance of otological and branchial manifestations which was termed branchio-otic syndrome type 2 (BOS2). This trait was mapped by linkage analysis in this family to a region of 23-31 Mb on chromosome 1q25.1q32.1. In the present report we describe the clinical features of two patients with a deletion in this region: one patient has a deletion but no otological or branchial manifestations, the other patient manifests mild conductive hearing loss resulting from bilaterally malformed middle ear ossicles, as well as a preauricular pit. Mapping of the deletion breakpoints allowed to delineate the region involved in BOS2 to a 5.25 Mb region containing 27 protein-coding genes. A detailed medical history of both patients is provided and they are compared with the literature on other detected interstitial deletions of 1q25q32. These findings will aid in the identification of the genetic cause underlying BOS2. Eur J Med Genet

A national cross-sectional seroprevalence survey was conducted in order to evaluate the current seroepidemiology of hepatitis A among 1,383 children, aged 0-14 years, residing in Greece. Stratification of the study population was conducted according to age and area of residence. Sera from study participants were tested for the presence of anti-HAV IgG antibodies. Immigrant children, as well as children residing in rural areas, had lower immunization rates. Among unvaccinated children, the seroprevalence rate of anti-HAV was 17.1%. Nationality was shown to have a marginally significant effect since non-immunized immigrant children had a higher seroprevalence rate (22.4% vs. 15.9%, OR = 1.52, P = 0.064). Significant differences between geographic areas for both vaccination coverage and natural immunity were observed. The study findings indicate that hepatitis A is prevalent in Greece and therefore universal infant hepatitis A immunization should be implemented. © 2009 Wiley-Liss, Inc.

Background: Animal data on cardiac arrest showed improved long-term survival with combined vasopressin-epinephrine. In cardiac arrest, cortisol levels are relatively low during and after cardiopulmonary resuscitation. We hypothesized that combined vasopressin-epinephrine and corticosteroid supplementation during and after resuscitation may improve survival in refractory in-hospital cardiac arrest. Methods: We conducted a single-center, prospective, randomized, double-blind, placebo-controlled, parallel-group trial. We enrolled 100 consecutive patients with cardiac arrest requiring epinephrine according to current resuscitation guidelines. Patients received either vasopressin (20 IU per cardiopulmonary resuscitation cycle) plus epinephrine (1 mg per resuscitation cycle) (study group; n=48) or isotonic sodium chloride solution placebo plus epinephrine (1 mg per resuscitation cycle) (control group; n=52) for the first 5 resuscitation cycles after randomization, followed by additional epinephrine if needed. On the first resuscitation cycle, study group patients received methylprednisolone sodium succinate (40 mg) and controls received saline placebo. Postresuscitation shock was treated with stress-dose hydrocortisone sodium succinate (300 mg daily for 7 days maximum, with gradual taper) (27 patients in the study group) or saline placebo (15 patients in the control group). Primary end points were return of spontaneous circulation for 15 minutes or longer and survival to hospital discharge. Results: Study group patients vs controls had more frequent return of spontaneous circulation (39 of 48 patients [81%] vs 27 of 52 [52%]; P=.003) and improved survival to hospital discharge (9 [19%] vs 2 [4%]; P=.02). Study group patients with postresuscitation shock vs corresponding controls had improved survival to hospital discharge (8 of 27 patients [30%] vs 0 of 15 [0%]; P=.02), improved hemodynamics and central venous oxygen saturation, and more organ failure-free days. Adverse events were similar in the 2 groups. Conclusion: In this single-center trial, combined vasopressin-epinephrine and methylprednisolone during resuscitation and stress-dose hydrocortisone in postresuscitation shock improved survival in refractory inhospital cardiac arrest. Trial Registration: clinicaltrials.gov Identifier: NCT00411879. ©2009 American Medical Association. All rights reserved.

AIMS: To describe cranial ultrasound (cUS) and magnetic resonance imaging (MRI) findings in neonates at risk of kernicterus, in relation to gestational age (GA), total serum bilirubin (TSB), age at imaging and neurodevelopmental outcome. PATIENTS AND METHODS: Neonates with peak TSB > 400 micromol/L and/or signs of bilirubin encephalopathy. Review of neonatal data, cUS, preterm, term and later MRI scans and neurodevelopmental outcome. RESULTS: 11 infants were studied, two < 31, four 34-36 and five 37-40 weeks GA. TSB levels: 235-583 micromol/L (preterms); 423-720 micromol/L (terms). Neonatal neurological examination was abnormal in 8/10. cUS showed increased basal ganglia (BG) in 4/9 infants and white matter (WM) echogenicity, lenticulostriate vasculopathy (LSV) and caudothalamic hyperechogencity/cysts (GLCs) in 5/9 infants. MRI showed abnormal signal intensity (SI) in the globus pallidum (GP) in 1/2 preterm, 8/9 term and 9/11 later scans. Abnormal WM SI occurred in 2 preterm, 7 term and 10/11 later scans. Seven infants developed athetoid/dystonic cerebral palsy (CP) and 6 hearing loss (HL). Adverse outcome was associated with abnormal BG on cUS (3/4 CP, 4/4 HL), with high SI in GP (7/9 CP, 6/9 HL) on late T2-weighted MRI (all GA) and on T1/T2-weighted term MRI, mainly in term-born infants. WM abnormalities, GLCs and LSV did not correlate with outcome. CONCLUSIONS: Severe CP occurred with relatively low TSB levels in preterms but only at high levels in full-terms; HL was difficult to predict. Early scans did not reliably predict motor deficits whilst all children with CP had abnormal central grey matter on later scans. Abnormal WM was seen early suggesting primary involvement rather than change secondary to grey matter damage. Why characteristic central grey matter MRI features of kernicterus are not seen early remains unexplained. Early Hum Dev

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by venous malformations usually affecting the skin and the gastrointestinal tract. These skin haemangiomas are present at birth and deteriorate as the body grows, causing primarily cosmetic problems. The haemangiomas of the gastrointestinal tract may appear later in life and may bleed, causing chronic anaemia, or may present with severe complications such as rupture, intestinal torsion, and intussusception. Other organs may also be involved. This article describes a 13-year-old boy with multiple haemangiomas of the skin, the mucous membranes, and the gastrointestinal tract, which caused anaemia and ileoileic intussusception. In this patient, the nervous system was significantly affected with a haemangioma of the left occipital lobe, with complications of stroke. He also had multiple paravertebral heamangiomas, which caused pressure signs and symptoms. This boy suffered from complex partial and generalized seizures and cerebral palsy. Multiple skeletal anomalies were also present from birth. In the relevant literature, this is the first case of BRBNS with simultaneous neurological and skeletal involvement. Such cases should be recognized early, as they can lead to serious multiple health problems and handicaps. Eur J Pediatr

OBJECTIVE: Although nitroglycerin- and isoproterenol-augmented tilt tests are of equal value in the diagnosis of neurocardiogenic syncope in adults, no data exist in children. We compared the sensitivity and specificity of the 2 tests in a pediatric population. PATIENTS AND METHODS: We studied 85 patients (33 boys; mean age: 11.6 +/- 2.9 years). Of them, 56 had a diagnostic history of neurocardiogenic syncope, whereas 29 served as controls. After a negative passive phase, they were randomly assigned to either intravenous isoproterenol or sublingual nitroglycerin, and tilt was continued for 20 minutes. RESULTS: Sensitivity was 0.78 for the isoproterenol test and 0.79 for the nitroglycerin test, but specificity was significantly higher for isoproterenol test compared with nitroglycerin test. In patients with a positive test, the duration of the recovery period was significantly longer after nitroglycerin (8.4 +/- 2.7 minutes) than after isoproterenol (5.1 +/- 1.6 minutes). CONCLUSIONS: Nitroglycerin- and isoproterenol-augmented tilt tests are associated with equal sensitivity in the diagnosis of neurocardiogenic syncope in children and adolescents. However, nitroglycerin results in more false-positive tests and produces more prolonged vasovagal symptoms. Our data do not support the routine use of nitroglycerin in the evaluation of syncope in this age group. Pediatrics

The purpose of the study was to evaluate brain myelination by measuring the magnetization transfer ratio (MTR) and to measure grey (GMV) and white matter volume (WMV) in macrocephalic children with neurofibromatosis type 1 (NF1). Seven NF1 patients ( aged 0.65 - 16.67 years) and seven age- and gender-matched controls were studied. A three-dimensional (3D) gradient echo sequence with and without magnetization transfer (MT) prepulse was used for MTR assessment. Volume measurements of GM and WM were performed by applying segmentation techniques on T2-weighted turbo spin echo images (T2WI). MTR of unidentified bright objects (UBOs) on T2WI in cerebellar white matter (52.8 +/- 3.3), cerebral peduncles (48.5 +/- 1.5), hippocampus ( 52.6 +/- 1.1), internal capsule (55.7 +/- 0.3), globus pallidus ( 52.7 +/- 3.9), and periventricular white matter ( 52.6 +/- 1.2) was lower than in the corresponding areas of controls 64.6 +/- 2.5, 60.8 +/- 1.3, 56.4 +/- 0.9, 64.7 +/- 1.9, 59.2 +/- 2.3, 63.6 +/- 1.7, respectively; p< 0.05). MTR of normal-appearing brain tissue in patients was not significantly different than in controls. Surface area (mm(2)) of the corpus callosum (809.1 +/- 62.8), GMV (cm(3)) (850.7 +/- 42.9), and white matter volume (WMV) (cm(3)) (785.1 +/- 85.2) were greater in patients than in controls (652.5 +/- 52.6 mm(2), 611.2 +/- 92.1 cm(3), 622.5 +/- 108.7 cm(3), respectively; p< 0.05). To conclude, macrocephaly in NF1 patients is related to increased GMV and WMV and corpus callosum enlargement. MTR of UBOs is lower than that of normal brain tissue. European Radiology

PURPOSE: To assess familiarity, understanding, and attitude toward epilepsy in Greece and identification of negative predictive factors. METHODS: A 19-item questionnaire was administered to 750 adults. The magnitude of social stigma toward epileptic people with epilepsy was measured with a quantitative scale of social rejection. Statistical analysis with chi-square and multiple regression analysis were used to identify factors associated with negative attitudes. RESULTS: Of our respondents 38.8% knew someone with epilepsy and 50.8% had witnessed a seizure. Nineteen percent believed that epilepsy is a type of mental retardation, 15% believed it is a type of insanity, 91.8% considered epilepsy as a brain disorder while 5.2% considered it as a supernatural phenomenon. Seventy-seven percent considered epilepsy as a curable disease while 57.5% believed that the risk of inheriting it is very high. Regarding marriage to a patient with epilepsy 45.4% rejected it while regarding his employment 37.7% were positive, 47.8% were skeptical while 12.8% were against it. The Greek public's rejection tendency toward epileptic people was generally low. Negative predictive factors were older age, low educational level, unfamiliarity with epilepsy, and erroneous beliefs about epilepsy. CONCLUSIONS: The Greek public is familiar with epilepsy but has a suboptimal level of appropriate understanding of essential aspects of the disease. The overall public's level of rejection toward people with epilepsy is low but certain groups of people are highly rejective. Information campaigns targeting specific population subgroups are necessary in Greece in order to improve the public's understanding of epilepsy and tolerance toward people with epilepsy. Epilepsia

Interleukin-5 contributes both in eosinophilopoiesis and neural development. Serum interleukin-5 levels were measured with enzyme-linked immunosorbent assay technique in 68 children with epilepsy receiving sodium valproate monotherapy and compared with the levels of 60 healthy controls and 14 children with epilepsy receiving carbamazepine. Eosinophilia was observed in 35.3% of children receiving valproate. Interleukin-5 in valproate users was significantly higher compared with children receiving carbamazepine and controls. Valproate users who exhibited eosinophilia had higher interleukin-5 levels compared with those without eosinophilia. However, the interleukin-5 level was also elevated, although to a lesser degree, in children without eosinophilia. The majority of valproate responders had high interleukin-5 levels. A positive correlation between interleukin-5 levels and the eosinophil count was also noted. We postulate that valproate contributes to the pathogenesis of eosinophilia, probably inducing interleukin-5 production. The finding that serum interleukin-5 was significantly elevated in valproate responders and even in valproate users without eosinophilia suggests that the increase in interleukin-5 might Sodium valproate is a simple branched-chain fatty acid that has anticonvulsant activity and is widely used in the treatment of epilepsy and convulsive disorders in children, such as generalized tonic-clonic seizures, absence seizures, myoclonic epilepsy, and partial seizures.1 The side effects of valproate in children include gastrointestinal disturbances, hyperphagia, weight gain, alopecia, hepatotoxicity, tremor, behavioral changes, and hematologic toxicity. Thrombocytopenia is a known hematopoietic side effect of valproate monotherapy that can lead to dosage modification or discontinuation. On the other hand, eosinophilia is a side effect that has not been well studied. In a cohort of 134 adult patients treated with valproate, eosinophilia was a noticeable side effect (30%).2 Eosinophilia caused by drugs is usually benign but can sometimes be accompanied by tissue damage, as in hypersensitivity pneumonitis and hypereosinophilic syndrome.3 Recently, a case of eosinophilic pleural effusion with peripheral blood eosinophilia, which was associated with valproate administration, was reported.4 The development and function of both eosinophil precursors and mature eosinophils are mainly regulated by interleukin-5. There is increasing evidence that the secondary eosinophilia present in patients with allergic and parasitic diseases is due to the production of interleukin-5 by activated T cells.5,6 The objective of the present study was to investigate the possible role of interleukin-5 in the production of eosinophilia that occurs in children with epilepsy receiving valproate monotherapy. J Child Neurol

Coxsackie virus pericarditis caused cardiac tamponade in a 45-day-old infant with corrected total anomalous pulmonary venous drainage and a hypodynamic left heart. The pathophysiology comprised reduced heart compliance, venous return impairment, acute pulmonary hypertension, and increased airway microvascular permeability. Tracheal edema and external compression caused tracheal lumen narrowing and respiratory failure. Laryngoscopy was difficult because of laryngeal inlet swelling. Endotracheal intubation was accomplished with a 3.0-mm tube. Pericardial cavity evacuation resulted in rapid recovery. A postprocedural chest radiograph revealed tracheal lumen enlargement. Repeated laryngoscopy revealed resolution of upperairway edema. In infants, large pericardial effusions developing after corrective/palliative heart surgery may cause major airway compromise.

Anesth Analg

BACKGROUND/AIMS: The therapeutic experience of interferon-alpha therapy against hepatitis D virus infection in affected children is rather limited. For this reason, we conducted a retrospective study (duration: 1991-1995) in order to evaluate the efficacy and the safety of interferon-alpha in children suffering from chronic hepatitis D in Northwestern Greece. METHODOLOGY: Seven children who were found to be infected with HDV in a total of 324 children seropositive for hepatitis B virus infection during the 5-year period of the study were treated with interferon-alpha, 3 x 10(6) U/m2 body surface area, intramuscularly or subcutaneously, 3 times weekly for 1 year (after an informed consent obtained from their parents). Patients were assessed monthly by hematological serological and biochemical tests. Clinical progress, levels of serum alanine aminotransferase, hepatitis D ribonucleic acid (HDV-RNA) and hepatitis B deoxyribonucleic acid (HBV-DNA), seroconversion of hepatitis B surface antigen (HBsAg) and Hepatitis Be Antigen (HBeAg) and liver histology were used as response criteria. RESULTS: Posttreatment alanine transferase levels were significantly reduced (P < 0.05) but Immunoglobulin M and total anti-hepatitis D virus (anti-HDV) antibodies remained positive in all, while hepatitis D ribonucleic acid persisted positive in 4 cases. In addition, no seroconversion of HBsAg or HBeAg was noted and the liver histology progress was disappointing. Side effects including mild fever, arthralgias and malaise and reversible neutropenia and thrombocytopenia were common, but not particularly disturbing. Nevertheless, the children remained fully active on treatment, felt well and attended school. Initially 4 children had been below the 10th percentile for weight and height. All thrived during treatment and two crossed above the 10th percentile indicating height velocity and body mass index increase. CONCLUSIONS: The administration of regular interferon-alpha doses for treating children with chronic hepatitis D was safe as attested by the mild side effects and the objective clinical criteria regarding their growth, but relatively ineffective. Although the prevalence of hepatitis D virus infection is now generally decreased, this study indirectly indicates that more effective agents and new approaches at the molecular level of the hepatitis D virus genome are urgently warranted for its control in individuals already infected with the virus. Finally, the poor therapeutic results in the present study further enhance the necessity of the expanded vaccination against Hepatitis B virus according to the World Health Organization's recommendations. Hepatogastroenterology

We present the case of a 9-year-old girl from northwestern Greece admitted to our Hospital because of malaise, low-grade fever, intermittent hip joint pain, anemia, leukopenia and thrombocytopenia. The examination of a bone marrow aspirate revealed the predominance of blast cells (97%) with FAB L1 morphology, immunopheno-typically positive for CD19 (95%), CD10 (95%), CD22 (95%), CD13 (82%), CD34 (95%) and CD38 (72%), with dim expression of CD45 and of the intracellular antigen terminal deoxynucleotidyl transferase (Tdt). Only 10% of the blasts expressed HLA-DR. Staining for CD2, CD3, CD5, CD7, CD20, CD23, CD33, CD14, CD15, AC133 and KOR-SA3544 was negative. Blast cells were lacking surface immunoglobulin expression and bcr/abl rearrangements were not detected. Cell cycle analysis revealed a diploid cell population. Karyotypic abnormalities were not identified. The lack of expression of HLA-DR and the presence of myeloid antigen CD13 indicated that it was a rare case of B-precursor ALL with aberrant immunophenotypic characteristics. J Exp Clin Cancer Res