Association analysis of Epworth Sleepiness Scale (ESS) scores with serotonin transporter (5-HTT- LPR, 5-HTT-VNTR) and circadian (PER3-VNTR) genes

Excessive daytime sleepiness (EDS) is a common complaint encountered in clinical practice with serious consequences both for individual and society since it can increase the ratio of motor vehicle accidents, work- related incidents, and deaths. Moreover, it also manifests less serious individual consequences. This study aimed to investigate the potential role of PER3-VNTR, 5-HTT-LPR, and 5-HTT-VNTR in terms of constituting liability to EDS. Two hundred eighteen participants (93 complaining about daytime sleepiness and 125 individuals with no serious complaint) were recruited in the study. General daytime of sleepiness was quantified with Epworth sleepiness scale (ESS). DNA extractions were performed from collected blood samples with standart salting-out procedure and genotyped. ESS scores displayed difference between individuals suffering from sleep disturbances and other individuals with values of 12.75±4.55 and 6.34±4.26, respectively. PER3- VNTR and 5-HTT-LPR genotypes did not display association with mean ESS scores. However, 5-HTT-VNTR genotypes showed significant association with mean ESS scores; individuals with 10/10 genotypes had the highest ESS score reflecting this genotype as a liability factor for EDS. We strongly recommend further studies based on circadian/serotonin pathway genes in different populations to reach to a consensus and highlight sleep genetic marker genes which then can be the future targets of pharmacological treatment studies for sleep problems

Evaluation of pre- and post-transplant electroencephalographic examination in hematopoietic stem cell transplant patients = A transzplantáció előtti és utáni elektroencefalográfiás vizsgálatok értékelése haematopoeticus őssejttranszplantált betegeknél

Background and purpose – Haemato poietic stem cell transplantation (HSCT) is one of the most effective treatment methods for many malignant and non malignant diseases. In this study, we aimed to detect electroencephalographic (EEG) anomalies at an early stage in patients who underwent allogeneic and autologous HSCT and required the management of potentially life threatening non-convulsive seizures. Methods – The study was conducted with 53 patients. The age, gender, HSCT type (allogeneic or autologous), and treatment regimens applied before and after HSCT were recorded. All patients underwent EEG monitoring twice, once on the first day of hospitalization and again one week after conditioning regimens began and HSCT was performed. Results – When the pre transplant EEG findings were examined, 34 (64.2%) patients had normal EEGs and 19 (35.8%) had abnormal EEGs. After transplantation, 27 (50.9%) had normal EEG findings, 16 (30.2%) had a basic activity disorder, 6 (11.3%) had a focal anomaly, and 4 (7.5%) had a genera- lised anomaly. In the allogeneic group, the anomaly rate in post transplant EEGs was significantly higher than that in the autolo- gous group (p<0.05). Conclusion – It is important to consider the likelihood of epileptic seizures in the clinical follow up of HSCT patients. EEG monitoring is crucial for the early diagnosis and treatment of such non-convulsive clinical mani- festations. | Háttér és cél – A haematopoeticus őssejt- transzplantáció (HSCT) számos rosszindulatú és nem rosszindulatú betegség egyik leg hatékonyabb kezelési módszere. Ebben a vizsgálatban az volt a célunk, hogy korai stádiumban kimutassuk az elektroencefa lográfiás (EEG-) anomáliákat az allogén és autológ HSCT n átesett betegeknél, akiknél potenciálisan életveszélyes, nem konvulzív görcsrohamok kezelésére lehet szükség. Módszerek – A vizsgálatot 53 beteg bevo násával végeztük. Feljegyeztük a betegek életkorát, a nemüket, a HSCT típusát (allogén vagy autológ), valamint a HSCT előtt és után alkalmazott kezelési rendet. Minden beteg nél kétszer végeztünk EEG-monitorozást, egyszer a kórházi kezelés első napján, majd egy héttel a kondicionáló kezelések megkez dése és a HSCT elvégzése után. Eredmények – A transzplantáció előtti EEG-leleteket vizsgálva 34 (64,2%) betegnél volt normális az EEG, 19 (35,8%) betegnél pedig kóros. A transzplantációt követően 27 (50,9%) betegnél volt normális az EEG, 16 (30,2%) betegnél alaptevékenységi zavar, 6 (11,3%) betegnél fokális anomália, 4 (7,5%) betegnél pedig generalizált anomália volt megfigyelhető az EEG-n. Az allogén csoport ban a transzplantáció utáni EEG anomáliák aránya szignifikánsan magasabb volt, mint az autológ csoportban (p<0,05). Következtetés – Fontos figyelembe venni az epilepsziás rohamok lehetőségét a HSCT- kezelt betegek klinikai követése során. Az EEG monitorozás kulcsfontosságú az ilyen nem konvulzív klinikai megnyilvánulások korai diagnosztizálásában és kezelésében

Febrile Seizures in Idiopathic/Genetic Generalized and Self-Limited Focal Epilepsies

Objectives: Febrile seizure (FS) is the most common form of childhood seizures. Furthermore, idiopathic/generalized and focal/self-limited epilepsies present at the similar age-range. They usually have a favorable outcome. This study was conducted to investigate the prevalence and demographic profile of FS in patients with idiopathic/generalized and focal/self-limited epilepsies

EEG Findings of Children with Attention Deficit and Autism

Objectives: Autism causes deviations in communication, social, cognitive, and behavioral development. Retrospective analysis of EEG findings in children with autism and attention deficit evaluated in a child psychiatric clinic between 2011 and 2012 was performed in the present study

Hemihypomimia, a rare persistent sign in Parkinson's disease - Follow up of 11 patients

Background: Typical hypomimia develops in almost all Parkinson's disease (PD) patients. We observed the presence of hemihypomimia (HH) in some of our PD patients. Objective: To discern the presence of hemihypomimia, to compare clinical features of these patients with the patients without HH and then to evaluate HH prospectively. Methods: Among 353 patients with PD followed-up between September 2003 and December 2004, 204 patients in stage 2 of Hoehn-Yahr were evaluated and hemihypomimia was observed in 13 PD patients (6.4%). Two groups were compared with respect to the age of onset of the first PD symptom, duration of PD and the body side affected predominantly. In addition, persistence of HH was prospectively evaluated in 11 of 13 patients with HH up to two-year-follow up period. Results: Hemihypomimia was interestingly on the right side of the face in all patients. Of these 13 HH patients, all but one had predominantly right-sided PD symptomatology. In the comparison of HH patients with the remaining group (n = 191), patients with HH had significantly earlier onset of PD symptoms (mean: 53.9 vs 58.5 years), and shorter PD duration (mean: 4.0 vs 6.2 years) (p < 0.01). Up to two-year-follow up, hemihypomimia, which was not changed by several triggered emotional facial expressions, clinically persisted. Conclusion: Our observations suggest that hemihypomimia is a rare phenomenon in PD, especially in PD patients having early-onset and shorter PD duration which may persist for several years in concordance with typical asymmetrical involvement of the limbs. HH developed in the right side, prominently on the lower part of the face. Understanding the underlying mechanism(s) about how hemihypomimia appears, and why it dominantly affects the right side of the face deserves further assessment

Sleep bruxism is related to decreased inhibitory control of trigeminal motoneurons, but not with reticulobulbar system

Sleep bruxism (SB) is a stereotyped movement disorder characterized by grinding or clenching of the teeth during sleep. We aimed to understand the abnormal networks related to the excitability of masticatory pathways in patients with SB. Eleven patients with SB and age- and gender-matched 20 healthy subjects were prospectively enrolled in our study. The masseter inhibitory reflex (MIR) after electrical stimulation and auditory startle reaction (ASR) were examined. For MIR responses, durations of early and late silent period (SP) were shorter and the degree of suppression of SPs was significantly lower in SB group in comparison to those obtained in healthy subjects. The ASR responses even of the masseter muscle, however, were similar between patients with SB and healthy individuals. Abnormal MIR provides support for the decreased inhibitory control of the central masticatory circuits in SB whereas normal ASR suggests the integrity and normal functioning of brainstem pathways mediating startle reaction. Although the sample size is small, our results are in line with previous findings and suggest an abnormally decreased inhibition in trigeminal motoneurons to masseter muscle rather than reticulobulbar pathways in patients with SB