Midbrain-hindbrain malformations in patients with malformations of cortical development and epilepsy: a series of 220 patients.

Midbrain-hindbrain malformations (MHM) may coexist with malformations of cortical development (MCD). This study represents a first attempt to investigate the spectrum of MHM in a large series of patients with MCD and epilepsy. We aimed to explore specific associations between MCD and MHM and to compare two groups of patients: MCD with MHM (wMHM) and MCD without MHM (w/oMHM) with regard to clinical and imaging features.

Consensus on diagnosis and management of JME: From founder's observations to current trends.

An international workshop on juvenile myoclonic epilepsy (JME) was conducted in Avignon, France in May 2011. During that workshop, a group of 45 experts on JME, together with one of the founding fathers of the syndrome of JME ("Janz syndrome"), Prof. Dr.

Neuropsychology and behavior in juvenile myoclonic epilepsy.

Following decades of neglect, there has been an increasing interest in the behavioral aspects of juvenile myoclonic epilepsy (JME) in the recent literature. A number of authors have investigated psychiatric comorbidity, cognitive profiles, and related behavioral features associated with JME. Although these findings are not entirely uniform, most studies suggest an increased incidence in psychiatric comorbidity and specific cognitive deficits that explain some of the clinical observations of poor compliance and other unhealthy behaviors in people suffering from JME.

Disconnective surgery in posterior quadrantic epilepsy: experience in a consecutive series of 10 patients.

Object: Outcomes following functional hemispherotomy in patients with drug-resistant epilepsy have been well described. However, studies reporting long-term longitudinal outcomes after subhemispheric disconnective epilepsy surgery are still limited.

Methods: The authors conducted a retrospective review of prospectively collected data of 10 children who underwent temporoparietooccipital (TPO) disconnective surgery at the Vienna Pediatric Epilepsy Center.

Anatomical two-bundle medial patellofemoral ligament reconstruction with hardware-free patellar graft fixation: technical note and preliminary results.

Purpose: Various techniques for reconstruction of the medial patellofemoral ligament (MPFL) have been developed. In this article, a modified technique for anatomical two-bundle MPFL reconstruction with hardware-free patellar graft fixation is described and the preliminary results of this technique are presented.

Methods: A modified surgical technique for MPFL reconstruction with a gracilis tendon autograft and hardware-free patellar graft fixation using two short oblique bone tunnels is described in detail.

Avulsion of the anterior medial meniscus root: case report and surgical technique.

Injuries of the meniscus roots have become increasingly recognised as a serious pathology of the knee joint. However, the current available literature focuses primarily on posterior meniscus root tears. In this article, a case with an isolated avulsion of the anterior medial meniscus root is presented, and a new arthroscopic technique to treat this type of injury is described.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive.

Frontal delta power associated with negative symptoms in ultra-high risk individuals who transitioned to psychosis.

It has recently been shown that treatment with long-chain omega-3 polyunsaturated fatty acids (PUFAs) could decrease the rate of transition to psychosis, and improve psychiatric symptoms and global functioning in people at ultra-high risk (UHR) for psychosis. Previous studies have suggested that resting state brain activity measured with electroencephalography (EEG) may represent an objective biomarker of changes in neural function associated with supplementation with omega-3 PUFAs. It has also been proposed that although resting state EEG cannot, by itself, predict transition to psychosis in UHR individuals, the combination of resting state EEG with negative symptoms may be a valid predictor of transition.

The role of the tibial slope in sustaining and treating anterior cruciate ligament injuries.

Purpose: A steep tibial slope may contribute to anterior cruciate ligament (ACL)-injuries, a higher degree of instability in the case of ACL insufficiency, and recurrent instability after ACL reconstruction. A better understanding of the significance of the tibial slope could improve the development of ACL injury screening and prevention programmes, might serve as a basis for individually adapted rehabilitation programmes after ACL reconstruction and could clarify the role of slope-decreasing osteotomies in the treatment of ACL insufficiency. This article summarizes and discusses the current published literature on these topics.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.

Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance.

Neuropathologic measurements in focal cortical dysplasias: validation of the ILAE 2011 classification system and diagnostic implications for MRI.

Focal cortical dysplasias (FCD) which represent a composite group of cortical malformations are increasingly recognized as morphological substrate for severe therapy-refractory epilepsy in children and young adults. However, presurgical evaluation remains challenging as not all FCD variants can be reliably detected by high-resolution magnetic resonance imaging (MRI). Here, we studied a cohort of 52 epilepsy patients with neuropathological evidence for FCD using the 2011 classification of the International League against Epilepsy (ILAE) and systematically analysed those histopathologic features applicable also for MRI diagnostics.

Acute electrical stimulation of the human retina with an epiretinal electrode array.

Purpose: To determine the threshold charges needed for eliciting visual perceptions through acute electrical stimulation of the human retina in patients suffering from retinitis pigmentosa, using an epiretinal microelectrode array.

Methods: In a multicentre study, 20 patients (average age 55 years) with visual acuities ranging from 4/200 to no light perception were included. The stimulation procedure was performed during a pars plana vitrectomy, for a maximum of 45 min, by using a microcontact film with IrO(x) electrodes connected by cable to a current generator.

Long-term follow-up of pediatric patients treated with mitoxantrone for multiple sclerosis.

The chemotherapeutic agent mitoxantrone is approved for the treatment of aggressive multiple sclerosis (MS) in adults. Its use, however, is limited by the risk of severe adverse events including cardiotoxicity, myelosuppression, liver toxicity and secondary leukemia. The aim of this retrospective study is to present data on the safety, tolerability and efficacy of mitoxantrone in a small cohort of children with MS.

Glutamate decarboxylase 67 is expressed in hippocampal mossy fibers of temporal lobe epilepsy patients.

Recently, expression of glutamate decarboxylase-67 (GAD67), a key enzyme of GABA synthesis, was detected in the otherwise glutamatergic mossy fibers of the rat hippocampus. Synthesis of the enzyme was markedly enhanced after experimentally induced status epilepticus. Here, we investigated the expression of GAD67 protein and mRNA in 44 hippocampal specimens from patients with mesial temporal lobe epilepsy (TLE) using double immunofluorescence histochemistry, immunoblotting, and in situ hybridization.

Adaptive behaviour in Down syndrome: a cross-sectional study from childhood to adulthood.

Objective: Adaptive behaviour in Down syndrome is described to increase until middle childhood and to begin to decline in adolescence, whereas significant deterioration in middle adulthood has been attributed to early onset of dementia. Nevertheless, opinions diverge about when the slowing down of adaptive and cognitive abilities starts. Our aims were to describe the profile of adaptive behaviour in Down syndrome, the variability within different age-groups, age-related changes and the correlation to cognitive abilities.

Radial optic neurotomy in central retinal vein occlusion does not influence ocular hemodynamics.

Purpose: radial optic neurotomy (RON) is used for the treatment of central retinal vein occlusion. Its effects on visual acuity differ substantially between patients. Our study aims to evaluate if RON has an impact on ocular microcirculation and if analysis of ocular microcirculation might serve as a predictor for surgical success.

Psychosocial background in incarcerated adolescents from Austria, Turkey and former Yugoslavia.

Adolescents with a migration background account for a substantial proportion of juveniles in custody. Psychosocial adversities pose a significant risk for criminal behaviour. So far, the nature of psychosocial adversities experienced by migrant youth is understudied.

Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience.

Purpose: To evaluate the long-term efficacy/tolerability of the ketogenic diet (KD) in paediatric drug-resistant epilepsies.

Methods: Data from children who were treated between 1999 and 2008 and had continuous follow-up of at least 6 months after initiation of the KD were analysed retrospectively. Response was defined as > or = 50% seizure reduction.

Beneficial effect of epilepsy surgery in a case of childhood non-paraneoplastic limbic encephalitis.

This 15-year-old girl had subacute onset of secondary generalized seizures, confusion, and subsequent memory decline. MRI showed bilateral hippocampal swelling progressing to unilateral mesial temporal sclerosis (MTS) within 12 months. Epilepsy surgery was performed, and laboratory data were consistent with non-paraneoplastic limbic encephalitis.

Hippocampal abnormalities in malformations of cortical development: MRI study.

Objectives: Hippocampal abnormalities may coexist with malformations of cortical development (MCD). This cross-sectional MRI study aimed at categorizing hippocampal abnormalities in a large group of MCD and comparing MCD patients with (group W) and without (group W/O) hippocampal abnormalities.

Methods: Hippocampal anatomy, rotation, size, internal structure, and MRI signal alterations were assessed visually by 3 independent raters in patients with MCD and epilepsy.

Type 1 diabetes and epilepsy: efficacy and safety of the ketogenic diet.

Diabetes type 1 seems to be more prevalent in epilepsy, and low-carbohydrate diets improve glycemic control in diabetes type 2, but data on the use of the classic ketogenic diet (KD) in epilepsy and diabetes are scarce. We present 15 months of follow-up of a 3 years and 6 months old girl with diabetes type 1 (on the KD), right-sided hemiparesis, and focal epilepsy due to a malformation of cortical development. Although epileptiform activity on electroencephalography (EEG) persisted (especially during sleep), clinically overt seizures have not been reported since the KD.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies remain elusive. Studies of structural genomic variations have revealed a significant excess of recurrent microdeletions at 1q21.

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established.

Sex-specific predictors of criminal recidivism in a representative sample of incarcerated youth.

Objective: The objective of the study was to identify sex-specific psychopathologic predictors of criminal recidivism among a representative sample of incarcerated youths.

Method: In this prospective longitudinal study, the Mini-International Psychiatric Interview for children and adolescents was used to assess psychopathology in juveniles entering an Austrian pretrial detention facility between March 2003 and January 2005. From the beginning of the study until January 2006, data on criminal history were obtained from the Integrierte Vollzugsverwaltung, a database containing criminal information of every individual incarcerated in Austria.