neurological disease

BACKGROUND: Epilepsy frequently accompanies Major Depressive Disorder (MDD). Notably, people with temporal lobe epilepsy and hippocampal sclerosis may face an increased susceptibility to MDD, as evidence indicates the involvement of the limbic system in the development of emotional symptoms. OBJECTIVES: To determine the prevalence and predictors of depression in temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) and compare them to those of other epilepsy types...

Recent studies have reported that cerebellar lesions can cause cognitive, behavioral, and affective symptoms. This constellation is called the cerebellar cognitive affective syndrome (CCAS). A bedside instrument, the CCAS-Scale, has been developed to screen for this clinical presentation. The aim of this study is to adapt the CCAS-Scale to Hungarian according to international cross-cultural guidelines. In cooperation with the senior author of the original CCAS-Scale, we defined a five-step adaptation protocol (license number 6758-1/2021)...

Synaptojanin-1 (SJ1) is a major neuronal-enriched PI(4, 5)P2 4- and 5-phosphatase implicated in the shedding of endocytic factors during endocytosis. A mutation (R258Q) that impairs selectively its 4-phosphatase activity causes Parkinsonism in humans and neurological defects in mice (SJ1RQ KI mice). Studies of these mice showed, besides an abnormal assembly state of endocytic factors at synapses, the presence of dystrophic nerve terminals selectively in a subset of nigro-striatal dopamine (DA)-ergic axons, suggesting a special lability of DA neurons to the impairment of SJ1 function...

INTRODUCTION: Tubercular meningitis (TBM) is a serious public health problem in developing countries as it leads to significant mortality and residual neurological sequelae. The estimated mortality due to TBM in India is 1.5 per 100,000 population. In resource-limited settings, only the Ziehl-Neelsen (ZN) stain, which has very little sensitivity, is available. The World Health Organization recommended the Loop Mediated Isothermal Amplification (TB LAMP) assay for pulmonary tuberculosis only...

INTRODUCTION: Iatrogenic botulism is a rare, serious disease that progresses with descending paralysis and develops after cosmetic or therapeutic botulinum toxin-A (BoNT-A) application. CASE PRESENTATIONS: In this case series; six cases of iatrogenic botulism followed up in our center are presented. Four of these developed after gastric BoNT-A and two after axillary BoNT-A application. RESULTS: The most important cause for the disease was the use of unlicensed products and high-dose toxin applications...

The claustrum is an irregular and fine sheet of grey matter in the basolateral telencephalon present in almost all mammals. The claustrum has been the object of several studies using animal models and, more recently, in human beings using neuroimaging. One of the most extended cognitive processes attributed to the claustrum is the salience process, which is also related to the insular cortex. In the same way, studies with human subjects and functional magnetic resonance imaging have reported the coactivation of the claustrum/insular cortex in the integration of sensory signals...

Timely diagnosis of mild traumatic brain injury (mTBI) remains challenging due to the rapid recovery of acute symptoms and the absence of evidence of injury in static neuroimaging scans. Furthermore, while longitudinal tracking of mTBI is essential in understanding how the diseases progresses/regresses over time for enhancing personalized patient care, a standardized approach for this purpose is not yet available. Recent functional neuroimaging studies have provided evidence of brain function alterations following mTBI, suggesting mTBI-detection models can be built based on these changes...

INTRODUCTION: Acute ischemic stroke (AIS) significantly contributes to severe disability and mortality among the elderly. This study aims to explore the association between longitudinal fluid balance (FB) trajectories and clinical outcomes in elderly patients with AIS. Our hypothesis posits the existence of multiple latent trajectories of FB in patients with AIS during the initial 7 days following ICU admission. METHODS: Patients (age ≥ 65 years) with AIS and continuous FB records were identified from two large databases...

INTRODUCTION: Autoimmune encephalitis (AE) is a rare, treatable disease of the central nervous system (CNS) caused by an antibody-related immune response. This study is to investigate the correlation of clinical features, cerebrospinal fluid (CSF) characteristics, and prognosis in patients with AE. METHODS: A total of 71 patients diagnosed with antibody-positive AE were retrospectively analyzed. The patients were divided into three groups: anti-NMDAR group, anti-LGI1 group, and other types...

PURPOSE: This study aimed to examine the effect of dependent care theory-based post-surgical home care intervention on self-care, symptoms, and caregiver burden in primary brain tumor patients and their caregivers. METHODS: A parallel-group randomized controlled trial was conducted with patients who underwent surgery for a primary brain tumor between March 2019 and January 2020 in a tertiary hospital and with caregivers who cared for them at home. Eligible patients and caregivers were determined by block randomization...

OBJECTIVE: The association between fluid balance and outcomes in patients who underwent out-of-hospital cardiac arrest (OHCA) and received extracorporeal cardiopulmonary resuscitation (ECPR) remains unknown. We aimed to examine the above relationship during the first 24 h following intensive care unit (ICU) admission. METHODS: We performed a secondary analysis of the SAVE-J II study, a retrospective multicenter study involving OHCA patients aged ≥ 18 years treated with ECPR between 2013 and 2018 and who received fluid therapy following ICU admission...

Subarachnoid hemorrhage (SAH) is a neurological disorder that severely damages the brain and causes cognitive impairment. MicroRNAs are critical regulators in a variety of neurological diseases. MiR-497-5p has been found to be downregulated in the aneurysm vessel walls obtained from patients with aneurysmal subarachnoid hemorrhage, but its functions and mechanisms in SAH have not been reported. Therefore, this study was designed to investigate the effect of miR-497-5p and its related mechanisms in SAH. We established an in vitro SAH model by exposing PC12 cells to oxyhemoglobin (oxyHb)...

Scoliosis is a common complication of neuromuscular disorders. These patients are frequently recalcitrant to nonoperative treatment. When treated surgically, they have the highest risk of complications of all forms of scoliosis. While recent studies have shown an improvement in the rate of complications, they still remain high ranging from 6.3 to 75% depending upon the underlying etiology and the treatment center (Mohamad et al. in J Pediatr Orthop 27:392-397, 2007; McElroy et al. in Spine, 2012; Toll et al...

Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament length (TFL), cross-bridge cycling, and myofibril alignment. Pathogenic variants in the nebulin gene (NEB) cause NEB-based nemaline myopathy (NEM2), a genetically heterogeneous disorder characterized by hypotonia and muscle weakness, currently lacking curative therapies. In this study, we examined a cohort of ten NEM2 patients, each with unique pathogenic variants, aiming to understand their impact on mRNA, protein, and functional levels...

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones...

Glial fibrillary acidic protein (GFAP), a proxy of astrocyte reactivity, has been proposed as biomarker of Alzheimer's disease. However, there is limited information about the correlation between blood biomarkers and post-mortem neuropathology. In a single-centre prospective clinicopathological cohort of 139 dementia patients, for which the time-frame between GFAP level determination and neuropathological assessment was exceptionally short (on average 139 days), we analysed this biomarker, measured at three time points, in relation to proxies of disease progression such as cognitive decline and brain weight...

OBJECTIVE: To compare the immediate results of mini-thoracotomy and sternotomy in patients with mitral valve disease. MATERIAL AND METHODS: The study included 52 patients who underwent mitral valve surgery (25 cases - mini-thoracotomy, 27 cases - sternotomy). RESULTS: Aortic cross-clamping time was significantly longer in sternotomy compared to mini-thoracotomy group - 110 vs 94 min ( p =0.03). Ventilation time was also significantly longer in the sternotomy group (12 vs...

OBJECTIVE: To analyze the effects of transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) on the cognitive function of individuals with Alzheimer's disease (AD). METHODS: This systematic review with meta-analysis and meta-regression included randomized clinical trials published until 05/2022. We included studies conducted with individuals with AD of both sexes, aged between 55 and 85 years, treated with tDCS, TMS, or both...

AIMS: Hirano bodies (HBs) are eosinophilic pathological structures with two morphological phenotypes commonly found in the hippocampal CA1 region in Alzheimer's disease (AD). This study evaluated the prevalence and distribution of HBs in AD and other neurodegenerative diseases. METHODS: This cross-sectional study systematically evaluated HBs in a cohort of 193 cases with major neurodegenerative diseases, including AD (n = 91), Lewy body disease (LBD, n = 87), progressive supranuclear palsy (PSP, n = 36), multiple system atrophy (MSA, n = 14) and controls (n = 26)...

BACKGROUND AND PURPOSE: Swallowing is a complex task, moderated by a sophisticated bilateral network including multiple supratentorial regions, the brainstem and the cerebellum. To date, conflicting data exist about whether focal lesions to the cerebellum are associated with dysphagia. Therefore, the aim of the study was to evaluate dysphagia prevalence, recovery and dysphagia pattern in patients with ischaemic cerebellar stroke. METHODS: A retrospective analysis of patients consecutively admitted to an academic stroke centre with ischaemic stroke found only in the cerebellum was performed...