Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.

Purpose: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induced reflex seizures as new phenotype and compare them to other patients with eating epilepsy and genetic mutations.

Methods: Presentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures.

Benign T cells drive clinical skin inflammation in cutaneous T cell lymphoma.

Psoralen plus UVA (PUVA) is an effective therapy for mycosis fungoides (MF), the skin-limited variant of cutaneous T cell lymphoma (CTCL). In low-burden patients, PUVA reduced or eradicated malignant T cells and induced clonal expansion of CD8+ T cells associated with malignant T cell depletion. High-burden patients appeared to clinically improve but large numbers of malignant T cells persisted in skin.

Overweight and obesity in type 1 diabetes equal those of the general population.

Background: The obesity epidemic might affect patients with type 1 diabetes (T1DM), historically described as lean and insulin-sensitive subjects. Insulin resistance in T1DM might increase diabetic complications, especially cardiovascular disease. Therefore, the body mass index (BMI) in T1DM patients was analyzed in comparison to the general population.

Hospital Anxiety and Depression Scale-Anxiety subscale (HADS-A) and The State-Trait Anxiety Inventory (STAI) accuracy for anxiety disorders detection in drug-resistant mesial temporal lobe epilepsy patients.

Background: Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most prevalent type of surgically remediable epilepsy and highly associated with psychiatric comorbidities. This study aimed to evaluate Hospital anxiety and depression scale-anxiety subscale (HADS-A) and The State-Trait Anxiety Inventory - Trait subscale (STAI-T) accuracy for detection of anxiety disorders in patients with drug-resistant MTLE-HS.

Methods: One hundred three consecutive patients with drug-resistant MTLE-HS were enrolled.

Trends in robot-assisted and virtual reality-assisted neuromuscular therapy: a systematic review of health-related multiplayer games.

Background: Multiplayer games have emerged as a promising approach to increase the motivation of patients involved in rehabilitation therapy. In this systematic review, we evaluated recent publications in health-related multiplayer games that involved patients with cognitive and/or motor impairments. The aim was to investigate the effect of multiplayer gaming on game experience and game performance in healthy and non-healthy populations in comparison to individual game play.

Is self-report sleepiness associated with cognitive performance in temporal lobe epilepsy?

Objectives: Sleepiness and cognitive impairment are common symptoms observed in patients with epilepsy. We investigate whether self-reported sleepiness is associated with cognitive performance in patients with refractory mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Seventy-one consecutive patients with MTLE-HS were evaluated with the Stanford Sleepiness Scale (SSS) before neuropsychological evaluation.

Absolute Quantification of Phosphor-Containing Metabolites in the Liver Using P MRSI and Hepatic Lipid Volume Correction at 7T Suggests No Dependence on Body Mass Index or Age.

Background: Hepatic disorders are often associated with changes in the concentration of phosphorus-31 ( P) metabolites. Absolute quantification offers a way to assess those metabolites directly but introduces obstacles, especially at higher field strengths (B ≥ 7T).

Purpose: To introduce a feasible method for in vivo absolute quantification of hepatic P metabolites and assess its clinical value by probing differences related to volunteers' age and body mass index (BMI).

Control perceptions in epilepsy: A transcultural case-control study with focus on auras.

Objective: General Locus of Control (GLoC) is used to measure the extent to which people perceive life events as results of their own actions or external factors. This study analyzes the relationship between GLoC and people with epilepsy's (PWE) clinical characteristics, levels of anxiety, depression, religiosity/spirituality, and quality of life, with particular attention to possible influences of auras.

Methods: A case-control study was carried out with 186 consecutive patients with a definite diagnosis of epilepsy in Brazil and Lithuania.

Frequency of occurrence of polymorphic light eruption in patients treated with photohardening and patients treated with phototherapy for other diseases.

Background: Medical phototherapy can lead to the manifestation of polymorphic light eruption (PLE), though little is known about the frequency of such events.

Aims: The aim of this Austrian single center study was to retrospectively investigate over a 4-year time period the frequency of PLE in patients prone to the condition and patients with other diseases under phototherapy (mainly narrow-band and broad-band UVB).

Materials And Methods: The data for analysis were obtained from the electronic health and patient record database and patient files of the Photodermatology Unit, Department of Dermatology, Medical University of Graz, Austria.

From Early Immunomodulatory Triggers to Immunosuppressive Outcome: Therapeutic Implications of the Complex Interplay Between the Wavebands of Sunlight and the Skin.

Phototherapy is an efficient treatment for many cutaneous diseases that involve the activation of inflammatory pathways or the overgrowth of cells with aberrant phenotype. In this review, we discuss recent advances in photoimmunology, focusing on the effects of UV-based therapies currently used in dermatology. We describe the molecular responses to the main forms of photo(chemo)therapy such as UVB, UVA-1, and PUVA that include the triggering of apoptotic or immunosuppressive pathways and help to clear diseased skin.

Pericardial Fat Relates to Disturbances of Glucose Metabolism in Women with the Polycystic Ovary Syndrome, but Not in Healthy Control Subjects.

Objective: The objective of the present study is to investigate the relationship of cardiac fat depots with disturbances of the carbohydrate metabolism in women with PCOS.

Methods: An oral glucose tolerance test (OGTT) was realized, and metabolic parameters were collected in 48 women with PCOS and in 20 controls. Intramyocardial fat (MYCL) and pericardial fat (PERI) were measured using H-magnetic resonance spectroscopy and imaging.

Mesial temporal lobe epilepsy with hippocampal sclerosis is infrequently associated with neuronal autoantibodies.

Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is characterized by its well-defined clinical profile. Limbic encephalitis is increasingly recognized as a possible etiology of adult-onset MTLE-HS, and neuronal autoantibodies have been detected in patients even without previous signs of encephalitis. The aim of this study is to analyze the frequency of specific autoantibodies in patients with MTLE-HS.

Dependency on the TYK2/STAT1/MCL1 axis in anaplastic large cell lymphoma.

TYK2 is a member of the JAK family of tyrosine kinases that is involved in chromosomal translocation-induced fusion proteins found in anaplastic large cell lymphomas (ALCL) that lack rearrangements activating the anaplastic lymphoma kinase (ALK). Here we demonstrate that TYK2 is highly expressed in all cases of human ALCL, and that in a mouse model of NPM-ALK-induced lymphoma, genetic disruption of Tyk2 delays the onset of tumors and prolongs survival of the mice. Lymphomas in this model lacking Tyk2 have reduced STAT1 and STAT3 phosphorylation and reduced expression of Mcl1, a pro-survival member of the BCL2 family.

Quality of life and treatment goals in psoriasis from the patient perspective: results of an Austrian cross-sectional survey.

Background: Patients with psoriasis experience impairment in quality of life. Thus, high-quality dermatological care is of particular importance.

Patients And Methods: We performed a nationwide cross-sectional survey in Austria (BQSAustria Psoriasis 2014/2015) with a special focus on quality of life and satisfaction with treatment among psoriasis patients predominantly treated at tertiary care centers.

Lebensqualität und Behandlungsziele bei Psoriasis aus Patientensicht: Ergebnisse eines österreichweiten Querschnitt-Survey.

Hintergrund: Patienten mit Psoriasis sind mit einer krankheitsbedingten Einschränkung ihrer Lebensqualität konfrontiert, weshalb einer hochqualitativen dermatologischen Versorgung ein besonderer Stellenwert zukommt.

Patienten Und Methodik: Wir führten einen bundesweiten Querschnitt-Survey in Österreich (BQSAustria Psoriasis 2014/2015) mit dem Schwerpunkt auf Lebensqualität und Therapiezufriedenheit bei Patienten mit Psoriasis in dermatologischer Behandlung vorwiegend an Zentren mit überwiegend tertiären Versorgungsaufgaben durch.

Ergebnisse: 70,2 % der 1184 befragten Patienten berichtete über eine eingeschränkte Lebensqualität (DLQI 2-5: 29,4 %; 6-10: 19,3 %; 11-15: 11,5 %; 16-20: 5,2 % und > 20: 4,9 %) trotz Behandlung innerhalb der letzten vier Wochen (mit lokaler Therapie in 88,2 % und/oder systemischer Therapie in 38,7 % der Fälle).

Cbl-b deficiency provides protection against UVB-induced skin damage by modulating inflammatory gene signature.

Exposure of skin to ultraviolet (UV) radiation induces DNA damage, inflammation, and immune suppression that ultimately lead to skin cancer. However, some of the pathways that regulate these events are poorly understood. We exposed mice to UVB to study its early effects in the absence of Cbl-b, a known suppressor of antitumor immune response in the skin.

Antiepileptic effect of olanzapine in epilepsy patients with atypical depressive comorbidity.

Depression is relatively common among patients with epilepsy, but often with predominant atypical symptoms. Some antiepileptic drugs show positive psychotropic effects, but these are not always sufficient to stabilize mood in epilepsy patients. Antidepressants are recommended to treat atypical depression but are not always effective and present a certain risk of seizure provocation.

A Perspective on the Interplay of Ultraviolet-Radiation, Skin Microbiome and Skin Resident Memory TCRαβ+ Cells.

The human skin is known to be inhabited by diverse microbes, including bacteria, fungi, viruses, archaea, and mites. This microbiome exerts a protective role against infections by promoting immune development and inhibiting pathogenic microbes to colonize skin. One of the factors having an intense effect on the skin and its resident microbes is ultraviolet-radiation (UV-R).

Acute Responses to Forearm Compression of Blood Lactate Accumulation, Heart Rate, Perceived Exertion, and Muscle Pain in Elite Climbers.

To evaluate the immediate responses to forearm compression of blood lactate concentration, heart rate, perceived exertion and local forearm muscle pain during severe climbing in elite climbers. Seven elite climbers (18 ± 2 years; 164 ± 5 cm; 57.8 ± 5.

Detection of convulsive seizures using surface electromyography.

Bilateral (generalized) tonic-clonic seizures (TCS) increase the risk of sudden unexpected death in epilepsy (SUDEP), especially when patients are unattended. In sleep, TCS often remain unnoticed, which can result in suboptimal treatment decisions. There is a need for automated detection of these major epileptic seizures, using wearable devices.

Studying meiotic cohesin in somatic cells reveals that Rec8-containing cohesin requires Stag3 to function and is regulated by Wapl and sororin.

The DNA-embracing, ring-shaped multiprotein complex cohesin mediates sister chromatid cohesion and is stepwise displaced in mitosis by Wapl and separase (also known as ESPL1) to facilitate anaphase. Proper regulation of chromosome cohesion throughout meiosis is critical for preventing formation of aneuploid gametes, which are associated with trisomies and infertility in humans. Studying cohesion in meiocytes is complicated by their difficult experimental amenability and the absence of cohesin turnover.

Increased cardiac stiffness is associated with autonomic dysfunction in patients with temporal lobe epilepsy.

Autonomic dysfunction is linked to sudden death regardless of the presence of structural heart disease. The pathway from autonomic dysfunction to sudden death is not fully understood, but myocardial sympathetic stimulation leading to arrhythmia and/or cardiac fibrosis might play a role. Our goal was to evaluate cardiac stiffness by echocardiography and its association with clinical, structural, and autonomic variables in people with epilepsy (PWE) compared to healthy controls.