Adaptive and terminal endoplasmic reticulum stress genes methylation levels in Parkinson patients' peripheral blood
Misfolded protein stress has come to the fore among the molecular mechanisms that can cause degeneration. Whereas one of the most important protein of adaptive Endoplasmic Reticulum stress (ERS) is XBP1, CHOP and ASK proteins are associated with apoptosis and terminal ERS. To the best of our knowledge, methylation levels of adaptive and terminal ERS genes in Parkinson's Disease (PD) patients' blood are unknown. We aimed to evaluate if there is a difference in the DNA methylation levels of the ERS related protein-coding genes in peripheral blood of PD patients compared with healthy controls. The clinical significance of these gene methylation levels was evaluated as the second aim.
[Hungarian adaptation of the Suicide Behaviors Questionnaire Revised]
Previous suicidal intent and attempt(s) are strong risk factors for current suicidal behaviour. In psy- chiatric practice, however, there are few self-report-based suicide risk assessment measures that can cover the past suicidal spectrum from multiple aspects and identify a cut-off point for suicidal risk. Our aim was therefore to introduce the Suicide Behaviors Questionnaire Revised (SBQ-R) into the Hungarian test battery.
[The application of Lee Silverman voice treatment in Parkinson's disease]
Parkinson's disease is a combined motor and nonmotor disorder, including reduced vocal loudness, monotone, slurred speech. The only standardized, evidence-based speech therapy that currently available for people with Parkinson's disease is Lee Silverman Voice Treatment (LSVT).We aimed to present the first results of using LSVT in our country through six case studies.
Retrospective evaluation of children under five years of age with head injuries: Single center experience
Head trauma is one of the leading causes of morbidity and mortality in childhood and can lead to traumatic brain injury (TBI). In our study, we present a retrospective analysis of the clinical and radiological findings of patients presenting with head trauma in 0-5 age range, examining the relationship between pediatric skull and brain development and age-related changes in trauma mechanisms. The study aims to evaluate the clinical characteristics and injury mechanisms in young children with head trauma, providing insights for improved management strategies tailored to this vulnerable population.
Association of propranolol with treatment-emergent akathisia during aripiprazole treatment
Akathisia is a common side effect of aripiprazole treatment, which is associated with subjective distress for patients, and represents a frequent cause of treatment discontinuation. Propranolol and other beta-receptor blockers are commonly used for treatment of akathisia. Cytochrome P450 2D6 (CYP2D6) enzyme plays a major role in the metabolism of aripiprazole. Our previous study has shown that CYP2D6 inhibitory activity of beta-blockers (metoprolol and propranolol) may result in elevated aripiprazole plasma concentrations. The objective of the present retrospective study was to assess the prevalence of akathisia in patients receiving propranolol or metoprolol comedication, as well as in those not receiving any CYP2D6 inhibitors such as propranolol, metoprolol, risperidone.
[Can the prostate save the brain? When a disadvantage becomes an advantage]
An unpleasant symptom of prostate hyperplasia is that older men get up to urinate at night. However, from the point of view of wake-up stroke, this can be an advantage, as they can detect their neurological deficit sooner due to the urge to urinate and can ask for help and receive definitive care sooner.
Disease-specific knowledge and differential diagnostic skill in clinical care
Back and neck pain are among the most prevalent musculoskeletal complaints, imposing a substantial individual and societal burden on healthcare systems. Effective management requires adequate education, strong clinical decision-making skills, and accurate interpretation of red flags. This narrative literature review explores the educational, diagnostic, and decision-making aspects of back and neck pain among laypeople, healthcare students, and professionals. It aims to synthesize findings from studies assessing disease-specific knowledge to emphasize how targeted educational programs can enhance students' understanding and, consequently, improve their future clinical practice.
Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Northern-Cyprus population
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder, affecting approximately one out of 10,000 live births. Muscular atrophy is caused by the gradual loss of alpha motor neurons within the ventral spinal cord or motor nuclei in the lower brainstem. In this study, we aimed to evaluate the carrier frequency of SMN1 gene mutation causing SMA in the Turkish Cypriot population.
Do nerve blocks boost mood and functional activity in patients with chronic migraine and medication overuse headache?
Chronic migraine (CM) and medication overuse headache (MOH) present significant therapeutic challenges, often accompanied by mood disturbances and functional impairment. Although prophylactic drug therapies remain essential, adjunct interventions such as Greater Occipital Nerve (GON) and Supraorbital Nerve (SON) blocks may offer additional benefits. This study aimed to assess whether adding these nerve blocks to standard medication prophylaxis could improve mood and functionality in patients diagnosed with CM or MOH.
[Results in our symptomatic and presymptomatic SMA patients treated with disease-modifying therapy]
The aim of this study was the comparison of the movement development, instrumental breathing and feeding support, and hospital care needs of children with SMA (spinal muscular atrophy) who received disease-modifying therapy in the presymptomatic and symptomatic stages.
[The impact of Leary's interpersonal relationships and attachment styles in the background of suicide attempts in borderline personality disorder]
Nowadays ever more studies are devoted to the causes and background of suicide attempts by psychiatric patients. The research results so far show that the motivations behind borderline suicidality are also closely related to attachment patterns. In addition, many investigations are also directed at the disturbance of interpersonal relationships in this context. Recently, the examination of the disturbance of interpersonal relations as a risk factor has received significant emphasis. The present research aims to explore the mediating effect of Leary's interpersonal relationships in relation to attachment styles and suicidality in borderline personality disorder.
[Neuromyelitis optica spectrum disorder: new international recommendations and emerging therapeutic options; current status of domestic practice in diagnostics and therapeutic strategies]
Neuromyelitis optica spectrum disorder is a rare neuroimmunological disease associated with unpredictable deterioration. Even the first signs of the disease can be severe enough to lead to permanent neurological impairment, such as loss of vision or paralysis. Early symptoms can often be mistaken for another disease, leaving patients bouncing between several specialists, leading to diagnostic delay. Early detection of the disease can save lives and quality of life, as appropriate therapy started early can prevent neurologically debilitating deterioration. In Hungary, the "off label" rituximab has so far been given a facilitated procedure for therapy, while evidence-based medicines are not yet available to us.
Adult-onset desmin myopathy in a patient with multiple sclerosis
Desmin is an intermediate filament and the mutation of its gene, DES, mostly causes myofibrillar myopathy. A 26-year-old male patient presented with progressive proximal weakness was admitted for diagnostic evaluation. On examination, decreased visual acuity on the right-side and mild superficial sensory impairment was noted besides the proximal weakness of the extremities. High creatine kinase level in serum, and myopathic changes on electromyography were detected. Muscle biopsy showed myopathic changes with vacuoles immunoreactive to dystrophin and mild increase of the endomysium. Brain MR imaging depicted T2 hyperintense lesions, some with contrast enhancement, compatible with primary demyelinating disease. The new generation DNA sequencing revealed homozygous c.1289-2A>G mutation in DES gene, which was reported only in one family previously. Although central nervous system involvement can be present in various muscle disorders, the co-occurrence of multiple sclerosis (MS) and myopathy is very rare. In our knowledge, this is the first case with desmin-related myopathy and MS.
A new diagnostic service for rare (neurologic) diseases in West-Hungary
Genetic services have not been evenly distributed in Hungary. Diagnostic services for rare diseases have particularly been scarce in the West end of the country. We aimed to fill this diagnostic gap.
[Assessment of cognitive functions in drug-refractory epileptic patients]
During an epileptic seizure, cortical neurons produce patterns of excessive synchronized electric discharge, which leads to various neurobio- logical, cognitive, and affective consequenc- es. At least 70% of epileptic patients can be characterized by varying degrees of cogni- tive deficits that may extend to language, executive functions and memory functioning. Drug-refractory epilepsy (DRE), which affects about one third of the patient population can negatively affect everyday functioning and quality of life. This pilot study aims to construct and examine the neuropsycho- logical profile of people with DRE within the framework of a longitudinal research project.
[Use of thromboelastography prior to systemic thrombolysis in patients treated with DOACs - case series]
The number of patients treated with direct oral anticoagulants (DOACs) is significantly increasing. In acute ischemic stroke, systemic thrombolysis is currently contraindicated for patients who have received DOAC treatment within the last 48 hours. Therefore, it is crucial to assess the continuity of treatment and patient compliance. However, accurate history is often unavailable. The anticoagulant effect of DOACs can be detected using viscoelastic tests performed by the thromboelastograph (ClotPro®). In our study, we conducted Russell's viper venom (RVV) and Ecarin assay (ECA) tests using a thromboelastograph in 25 patients with acute ischemic stroke who were potentially taking DOACs but were unable to provide an accurate history. Based on the coagulation time, we obtained information regarding the effect of the anticoagulant treatment, and thus compliance, which aided in assessing the eligibility for thrombolysis. In 11 cases, we observed the ineffectiveness of the DOAC therapy, 9 of which were later confirmed by heteroanamnesis. These tests enabled thrombolysis in 4 patients. Hemorrhagic complication was observed in one case, which was caused by an underlying, previously undiagnosed chronic lymphocytic leukemia. In the cases we observed, DOAC-specific viscoelastic tests (RVV, ECA) provided rapid information regarding DOAC administration within the last 48 hours, allowing the identification of the patients who were eligable for thrombolysis. Overall, these tests assist clinicians in determining compliance, assessing the possibility of thrombolysis, and reducing the time required to make treatment decisions.
Investigation of changes in the sympathetic skin response to levodopa therapy in patients with Parkinson's disease
We sought to evaluate the acute and dynamic alterations in the sympathetic skin response (SSR) in patients with Parkinson's disease (PD) in response to levodopa therapy.
[Combined endoscopic and percutaneous technique to treat lumbar spondylolisthesis - technical note]
The surgery of spondylolisthesis or vertebral slippage aims to treat segmental instability and decompress nerve structures. Because of the complications/consequences of open surgical techniques, a demand emerged from both patients and surgeons to develop minimally invasive techniques such as endoscopic methods. The purpose of this article is to present endoscopic interbody fusion technique that is a safe and effective alternative in the treatment of patients with vertebral slippage.
[The role of physical exercise in the treatment of mental disorders and suicide prevention]
According to the World Health Organization (WHO), a sharp increase in the prevalence of mental disorders is expected, and by 2030, the amounts spent on treating depression will constitute the largest health care ex- penditure worldwide. Preliminary estimates also highlight the importance of focusing on any therapeutic approaches that can slow down this trend. Lifestyle medicine, particu- larly regular physical exercise, plays a crucial role as a low-intensity psychological interven- tion. Regular physical exercise is a widely accessible and effective tool for both preven- tion and therapeutic intervention. It impacts all organ systems of the body, and therefore, regardless of age, it significantly contributes to the development and maintenance of both physical and mental health, improves quality of life, and increases life expectancy. A significant portion of mental disor- ders remains undiagnosed and, therefore, untreated. This makes physical exercise par- ticularly important in preventing the devel- opment of psychopathological symptoms in both childhood and adulthood. Despite the long-known positive effects of regular physi- cal exercise, it is rarely mentioned in medical literature and, with few exceptions, is almost entirely absent from treatment protocols. In our summary paper, we integrate foun- dational knowledge from sports science, psy- chopathology, and psychotherapy, aiming for a multidisciplinary, comprehensive approach to treatment. This highlights the potential of regular physical exercise as a medica- tion and an effective therapeutic tool in the treatment of mental disorders, often even as monotherapy. The scope of the paper is to demonstrate how the symptoms of mental disorders can be prevented or alleviated through regular physical exercise - one of the pillars of lifestyle medicine - as a low-intensity intervention.
[Assessing the cognitive ability of elderly drivers: challenges and options]
Evaluating the driving capabilities of elderly individuals is a multifaceted issue of significant societal importance. While traffic safety statistics generally worsen with age, advanced age is only a weak predictor of driving performance. Since the cognitive abilities of elderly individuals vary significantly, it is necessary to individually assess their functional status. According to literature recommendations, individuals who age at a physiological pace are typically considered fit for driving, provided that other chronic conditions do not pose contraindications. Regular cognitive evaluation is warranted in cases where cognitive decline is evident. Those living with Mild Cognitive Impairment or in the early stages of dementia may still be capable of safe driving under close medical supervision, but they should prepare for alternative transportation means over time. Numerous international examples show that periodic medical assessments targeting the elderly often fail to achieve their objectives due to the use of low-validity measurement methods, resulting in no improvement and sometimes exacerbation of traffic safety indicators. In our comprehensive study, we propose the use of neuropsychological assessment tools and novel data analysismethods that could also be implemented in primary care settings.
[The place of eslicarbazepine acetate in the treatment of epilepsy in adults]
Eslicarbazepine acetate (ESL), a sodium ionchannel blocker as a third-generation antiseizure drug is a member of the firstline dibenzazepine antiseizure medications after carbamazepine (first generation) and oxcarbazepine (second generation). The hypothesis of the further development of carbamazepine was that the direct metabolite S-licarbazepine possessed higher permeability to blood-brain barrier compared to R-enantiomer. This can lead to a more efficacious drug with fewer side effects.Based on the results of the randomized controlled clinical trials can be established that ESL administered once daily as addon pharmacotherapy is efficacious, welltolerated with a beneficial safety profile in patients with focal epilepsies (with or without secondary generalization) in adults and in children older than 6 years. ESL used in monotherapy is recommended also in focal epilepsies (with or without secondary generalization) for newly diagnosed adult epileptic patients. It has been confirmed that ESL either in monotherapy or in combination drug treatment is an effective, well-tolerated and safe antiseizure medication.
