[Evaluation of pre- and post-transplant electroencephalographic examination in hematopoietic stem cell transplant patients]. / A transzplantáció elotti és utáni elektroencefalográfiás vizsgálatok értékelése haematopoeticus ossejttranszplantált betegeknél.

Background and purpose:

Haemato­poietic 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.

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.

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 ge­ne­ra­lised anomaly. In the allogeneic group, the anomaly rate in post-transplant EEGs was significantly higher than that in the auto­lo­gous group (p<0.05).

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 ma­ni­festations. 

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.

Lack of association between MAOA-uVNTR variants and excessive daytime sleepiness.

Sleep disorders are highly prevalent in the population and have dramatic health, social, and economic impacts. However, their treatments may remain symptomatic due to ignorance of molecular factors which may provide fundamental insights into the neurological bases of sleep. Excessive daytime sleepiness (EDS) is a common complaint encountered in neurological practice with significant effects both on individuals and on society. We aimed to investigate the role of monoamine oxidase A (MAOA) as a candidate gene in EDS. Epworth sleepiness scale (ESS) was applied to 221 subjects who were also genotyped for MAOA upstream variable number of tandem repeats (MAOA-uVNTR). Patient group displayed higher ESS values (mean 12.67) when compared with the control group (mean 6.38). However, MAOA-uVNTR genotypes did not show a significant association with ESS scores neither on women nor on men. Finally, these data suggest further replications in different populations. Moreover, the investigation of some other genes together with MAOA and/or some possible regulatory molecular mechanisms may offer a more comprehensive approach in the role of genetic factors contributing to EDS.

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.