The structure of post-traumatic stress symptoms in survivors of war: Confirmatory factor analyses of the Impact of Event Scale—Revised

The study aimed at establishing the factor structure of the Impact of Event Scale—Revised (IES-R) in survivors of war. A total sample of 4167 participants with potentially traumatic experiences during the war in Ex-Yugoslavia was split into three samples: two independent samples of people who stayed in the area of conflict and one sample of refugees to Western European countries. Alternative models with three, four, and five factors of post-traumatic symptoms were tested in one sample. The other samples were used for cross-validation. Results indicated that the model of best fit had five factors, i.e., intrusion, avoidance, hyperarousal, numbing, and sleep disturbance. Model superiority was cross-validated in the two other samples. These findings suggest a five-factor model of post-traumatic stress symptoms in war survivors with numbing and sleep disturbance as separate factors in addition to intrusion, avoidance and hyperarousal.     

Altered electrophysiological correlates of motor inhibition and performance monitoring in Tourette’s syndrome

Objective

Whether motor inhibition capabilities are impaired in Tourette’s syndrome (TS) remains inconclusive. The ability to suppress tics has been proposed to ensure normal motor control in uncomplicated, adult patients. The aim of the present study was to characterize cortical processes of motor inhibition and performance monitoring using event-related potentials (ERPs) elicited by a visual stop signal task.

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci

Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with variable foci (FFEVF). Family I with 10 affected individuals and Family II with five affected individuals underwent detailed phenotyping over three generations. The phenotypic spectrum of the two families varied from nonlesional focal epilepsy including nocturnal frontal lobe epilepsy to severe structural epilepsy due to hemimegalencephaly. Whole‐exome sequencing and single nucleotide polymorphism array analysis revealed pathogenic variants in NPRL3 in each family, a partial ~38‐kb deletion encompassing eight exons (exons 8‐15) and the 3′‐untranslated region of the NPRL3 gene in Family I, and a de novo nonsense variant c.1063C>T, p.Gln355* in Family II. Furthermore, we identified a truncating variant in the PDCD10 gene in addition to the NPRL3 variant in a patient with focal epilepsy from Family I. The individual also had developmental delay and multiple cerebral cavernomas, possibly demonstrating a digenic contribution to the individual's phenotype. Our results implicate the association of NPRL3 with hemimegalencephaly, expanding the phenotypic spectrum of NPRL3 in FFEVF and underlining that partial deletions are part of the genotypic spectrum of NPRL3 variants.     

Aktuelle Diagnostik und Therapie der Leichtkettenamyloidose

Amyloidoses are protein-folding disorders in which soluble proteins are deposited as insoluble fibrillar aggregates due to a change in protein conformation. This might occur intra- or extracellularly, systemically or in a localized manner. The light chain type is the most common form of systemic amyloidoses and has the worst prognosis. The underlying disease is a monoclonal, mostly non-malignant plasma cell disorder. The causative treatment is the reduction of the amyloidogenic light chains with conventional or high-dose chemotherapy. Meanwhile, the“new drugs” used in multiple myeloma are also successfully applied. Early diagnosis is important to be able to treat patients effectively and to avoid further deterioration of organ function. Patients with newly diagnosed amyloidosis should be referred to a specialized center for consultation, diagnosis and treatment recommendation.     

Risikostratifizierung und Therapie kardialer Amyloidosen

Cardiac amyloidoses are a heterogeneous group of cardiomyopathies that are resistant to treatment and are associated with a poor outcome. Standard heart failure treatment is usually not well tolerated and the underlying disease remains unaffected. The clinical picture is uncharacteristic. Cardiac amyloidosis is often associated with dysfunction of additional organs. Early cardiac amyloid involvement usually reveals left ventricular hypertrophy, impairment of longitudinal shortening and diastolic ventricular function. Without adequate therapy (bi-)ventricular hypertrophy will progress to severe systolic ventricular function decrease. The combination of low voltage pattern, left ventricular hypertrophy and granular sparkling is characteristic for advanced cardiac amyloid involvement. Cardiac magnetic resonance imaging and scintigraphy yield further information on the pattern and severity of cardiac involvement. In unclear cases (left ventricular) endomyocardial biopsy is necessary. Detection of early cardiac involvement and proper identification of patients at high risk for sudden cardiac death due to rapid progressive amyloidosis is still incompletely defined. Referral to specialized centers is strongly recommended.     

Systemic therapy developments and their effects regarding the current concept of recurrent ovarian carcinoma as a chronic disease

Purpose  

To demonstrate how the current concept of recurrent ovarian carcinoma (ROC) as a chronic disease resulted in developments in the systemic treatment strategies and outcome over time.     

Psychometric properties of the apathy evaluation scale in patients with Parkinson's disease

Parkinson's disease (PD) frequently entails non‐motor symptoms, worsening the course of the disease. Apathy is one of the core neuropsychiatric symptoms that has been investigated in recent years; research is however hampered by the limited availability of well‐evaluated apathy scales for these patients. We evaluated the psychometric properties of the Apathy Evaluation Scale (AES) in a sample of PD patients. Psychometric properties, convergent and discriminant validity and sensitivity/specificity were evaluated in patients with (n = 582) or without dementia/depression (n = 339). Internal consistency was high in the entire sample as well as in patients without dementia/depression. Correlations were moderate for convergent validity (UPDRS I item 4: motivation). While apathy could be differentiated from cognitive decline, it was related to depression (Geriatric Depression Scale, GDS‐15). The overall classification accuracy based on the UPDRS I item 4 was comparable for AES and GDS scores. The AES exhibits good psychometric properties in PD patients with and without dementia and/or depression. Commonly used screenings on the presence of apathy had low detection rates compared to the AES and reflected both apathetic and depressive symptoms. Psychometric evaluation of available instruments will support further research on the clinical relevance of apathy for disease progression and treatment approaches in PD patients.     

Intraoperative subdural low-noise EEG recording of the high frequency oscillation in the somatosensory evoked potential

Objective

The detectability of high frequency oscillations (HFO, >200 Hz) in the intraoperative ECoG is restricted by their low signal-to-noise ratio (SNR). Using the somatosensory evoked HFO, we quantify how HFO detectability can benefit from a custom-made low-noise amplifier (LNA).