[Thrombolysis treatment and multi- disciplinary management of central retinal artery occlusion in comparison with traditional ophthalmological treatment options]. / Arteria centralis retinae elzáródás thrombolysiskezelése és multidiszciplináris ellátása a hagyományos szemészeti kezelési formákkal összehasonlítva.

Background and purpose:

The management of central retinal artery occlusion (CRAO) has long been conservative therapy with limited efficacy carried out in ophthalmology departments together with etiolo­gi­cal investigations lacking a standardised protocol. However, CRAO is analogous to ischemic central nervous system stroke and is associated with increased stroke risk, thus, systemic thrombolysis treatment and multidisciplinary management can be beneficial. Since May 2022, at Semmelweis University CRAO patients diagnosed within 4.5 hours are given intravenous thrombolysis therapy and undergo etiologic workup based on current stroke protocols. Here we report our experience with the multidisciplinary, protocol-based management of CRAO in comparison with former non-protocol based ophthalmological conservative treatment.

We reviewed CRAO patients’ data treated conservatively and with paracentesis within 6 hours at the Department of Ophthalmology between 2013 and 2022 including changes in visual acuity, neurolo­gical and cardiovascular findings compared to those in the thrombolysis project. 

Of the 78 patients receiving non-protocol care, visual improvement was seen in 37% with natural course, 47% with conservative treatment and 47% with paracentesis. Four patients had significant carotid stenosis (2 underwent endarterectomy), 1 carotid dissection, 6 cardioembolism and 1 giant cell arteritis. Of the 4 patients within 4,5 hours, 3 gave their consent to the clinical trial and were treated with thrombolysis and underwent a full etiological assessment. 
2 pa­tients had improved visual acuity, 2 pa­tients had significant carotid stenosis and underwent endarterectomy, 1 patient was started on anticoagulation for newly diagnosed atrial fibrillation.

CRAO patients presenting within 4,5 hours are rare and more patients are needed in our study to establish the efficacy of thrombolysis. However uniform protocollized evaluation helps identifying embolic sources thus, avoiding further and potentially more serious thromboembolic events.

[The importance of MR imaging in the diagnosis and management of acute stroke]. / Az MR-képalkotás jelentosége az akut stroke diagnosztikájában és ellátásában ­ Az MRI FIRST! Projekt.

Background and purpose:

In our collaborative project, called MRI First!, every patient arriving with neurological symptoms of acute stroke and without contraindications was examined by MRI. Our aim was to detect the symptomatic lesions, to obtain appropriate information about the brain parenchyma and to analyse parenchymal perfusion and brain vasculature.

The examinations were conduc­ted on a Philips Ingenia 1.5 Tesla scanner with the following protocol: DWI-ADC, FLAIR, T2 FFE/SWI, PWI, and contrast-enhanced MRA. 415 patients were examined between January 2020 and May 2021. 179 patients arrived within-, and 136 patients after 4.5 hours symptoms onset time, while 100 patients had “wake-up” stroke.

Within the 4.5 hours group, 81 cases had acute ischemic lesion, 48 of them received reperfusion therapy. Acute ische­mic lesion was found in 64 patients in the wake-up stroke group and in 64 in the 4.5-24 hours group. In these groups 10 and 12 patients obtained reperfusion therapy, respectively. Further 117 cases were considered as stroke mimics, in which cases unnecessary intravenous thrombolysis was avoidable.

MRI is accepted as a sensitive diagnostic modality providing detailed information regarding the brain parenchyma, its perfusion and vasculature. Nonetheless, its worldwide utilization in acute stroke is low and further information should be collected on which patient groups would gain the most benefit from acute MR imaging. Our continuous work is aimed at that goal.

MRI compatibility of orthodontic brackets and wires: systematic review article.

BACKGROUND: Before the magnetic resonance imaging (MRI) examination fixed orthodontic devices, such as brackets and wires, cause challenges not only for the orthodontist but also for the radiologist. Essentially, the MRI-safe scan of the fixed orthodontic tools requires a proper guideline in clinical practice. Therefore, this systematic review aimed to examine all aspects of MRI-safe scan, including artifact, thermal, and debonding effects, to identify any existing gaps in knowledge in this regard and develop an evidence-based protocol. METHODS: The Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) statement was used in this study. The clinical question in "PIO" format was: "Does MRI examination influence the temperature of the orthodontic devices, the size of artifacts, and the debonding force in patients who have fixed orthodontic bracket and/or wire?" The search process was carried out in PubMed, PubMed Central, Scopus, and Google Scholar databases. The search resulted in 1310 articles. After selection according to the eligibility criteria, 18 studies were analyzed by two reviewers. The risk of bias was determined using the Quality In Prognosis Studies tool. RESULTS: Out of the eligible 18 studies, 10 articles examined the heating effect, 6 were about the debonding effect, and 11 measured the size of artifact regarding brackets and wires. Considering the quality assessment, the overall levels of evidence were high and medium. The published studies showed that heating and debonding effects during MRI exposure were not hazardous for patients. As some wires revealed higher temperature changes, it is suggested to remove the wire or insert a spacer between the appliances and the oral mucosa. Based on the material, ceramic and plastic brackets caused no relevant artifact and were MRI-safe. Stainless steel brackets and wires resulted in susceptibility artifacts in the orofacial region and could cause distortion in the frontal lobe, orbits, and pituitary gland. The retainer wires showed no relevant artifact. CONCLUSIONS: In conclusion, the thermal and debonding effects of the fixed orthodontic brackets and wires were irrelevant or resoluble; however, the size of the artifacts was clinically relevant and determined most significantly the feasibility of fixed brackets and wires in MRI examination.

The role of hybrid FDG-PET/MRI on decision-making in presurgical evaluation of drug-resistant epilepsy.

BACKGROUND: When MRI fails to detect a potentially epileptogenic lesion, the chance of a favorable outcome after epilepsy surgery becomes significantly lower (from 60 to 90% to 20-65%). Hybrid FDG-PET/MRI may provide additional information for identifying the epileptogenic zone. We aimed to investigate the possible effect of the introduction of hybrid FDG-PET/MRI into the algorithm of the decision-making in both lesional and non-lesional drug-resistant epileptic patients. METHODS: In a prospective study of patients suffering from drug-resistant focal epilepsy, 30 nonlesional and 30 lesional cases with discordant presurgical results were evaluated using hybrid FDG-PET/MRI. RESULTS: The hybrid imaging revealed morphological lesion in 18 patients and glucose hypometabolism in 29 patients within the nonlesional group. In the MRI positive group, 4 patients were found to be nonlesional, and in 9 patients at least one more epileptogenic lesion was discovered, while in another 17 cases the original lesion was confirmed by means of hybrid FDG-PET/MRI. As to the therapeutic decision-making, these results helped to indicate resective surgery instead of intracranial EEG (iEEG) monitoring in 2 cases, to avoid any further invasive diagnostic procedures in 7 patients, and to refer 21 patients for iEEG in the nonlesional group. Hybrid FDG-PET/MRI has also significantly changed the original therapeutic plans in the lesional group. Prior to the hybrid imaging, a resective surgery was considered in 3 patients, and iEEG was planned in 27 patients. However, 3 patients became eligible for resective surgery, 6 patients proved to be inoperable instead of iEEG, and 18 cases remained candidates for iEEG due to the hybrid FDG-PET/MRI. Two patients remained candidates for resective surgery and one patient became not eligible for any further invasive intervention. CONCLUSIONS: The results of hybrid FDG-PET/MRI significantly altered the original plans in 19 of 60 cases. The introduction of hybrid FDG-PET/MRI into the presurgical evaluation process had a potential modifying effect on clinical decision-making. TRIAL REGISTRATION: Trial registry: Scientific Research Ethics Committee of the Medical Research Council of Hungary. TRIAL REGISTRATION NUMBER: 008899/2016/OTIG . Date of registration: 08 February 2016.

Comparing extended versus standard time window for thrombectomy: caseload, patient characteristics, treatment rates and outcomes-a prospective single-centre study.

PURPOSE: New guidelines recommend thrombectomy up to 24 h in selected patients; however, the workload and benefit of extending time window are not known. We conducted a prospective single-centre study to determine the caseload, imaging and interventional need of extended time window. METHODS: All consecutive ischemic stroke patients within 24 h from onset in an 11-month period were included. Thrombectomy eligibility in the 0-6 h time window was based on current guidelines; in the 6-24 h time window, it was based on a combination of DEFUSE 3 and DAWN study criteria using MRI to identify target mismatch. Clinical outcome in treated patients was assessed at 3 months. RESULTS: Within 24 h of onset, 437 patients were admitted. In the 0-6 h time window, 238 patients (54.5%) arrived of whom 221 (92.9%) underwent CTA or MRA, 82 (34.5%) had large vessel occlusion (LVO), 30 (12.6%) had thrombectomy and 11 (36.6%) became independent (mRS ≤ 2). In the extended 6-24 h time window, 199 patients (45.5%) arrived of whom 127 (63.8%) underwent CTA or MRA, 44 (22.1%) had LVO, 8 (4%) had thrombectomy and 4 (50%) became independent. CONCLUSION: Extending the time window from 6 to 24 h results in a 26.7% increase in patients receiving thrombectomy and a 36.4% increase of independent clinical outcome in treated patients at the price of a significantly increased burden of clinical and imaging screening due to the similar caseload but a smaller proportion of treatment eligible patients in the extended as compared with the standard time window.

Novel structured MRI reporting system in neonatal hypoxic-ischemic encephalopathy - issues of development and first use experiences.

BACKGROUND AND PURPOSE: To develop an evidence-based, standardized structured reporting (SR) method for brain MRI examinations in neonatal hypoxic-ischemic encephalopathy (HIE) suitable both for clinical and research use. METHODS: SR template development was based on comprehensive review of the pertinent literature with the basic sections and subdivisions of the template defined according to MRI sequences (both conventional and diffusion-weighted, MR-spectroscopy (MRS), and T2*-weighted imaging), and the items targeted on age-related imaging patterns of HIE. In order to evaluate the usability of the proposed SR template we compared data obtained from the brain MR image analysis of 87 term and 19 preterm neonates with the literature. The enrolled 106 infants were born between 2013 and 2015, went through therapeutic hypothermia according to the TOBY criteria due to moderate to severe asphyxia and had at least one brain MRI examination within the first two weeks of life. Ethical approval was obtained for this retrospective study. Descriptive statistical analysis was also performed on data exported from the structured reporting system as feasibility test. RESULTS: The mean gestational age of the study population was 38.3±2.2 weeks; brain MRI was performed on 5.8±2.9 day of life, hence in 78% of our patients after the conclusion of therapeutic hypothermia. Our main imaging findings were concordant to the pertinent literature. Moreover, we identified a characteristic temporal evolution of diffusion changes. Interestingly 18% (n=19/106) of the clinically asphyxiated infants had isolated axial-extraaxial haemorrhage without any imaging sign of HIE. CONCLUSION: In this article our approach of reporting HIE cases with our novel SR template is described. The SR template was found suitable for reporting HIE cases, moreover it uncovered time and location dependent evolution of diffusion abnormalities (and pseudonormalization, as well), suggesting its usefulness in clinical research applications. The high number of isolated intracranial haemorrhages, and the changing diffusion pattern emphasizes the importance of early imaging in HIE.

Ictal asystole: A systematic review.

OBJECTIVE: To comprehensively analyze ictal asystole (IA) on a large number of subjects. METHODS: We performed a systematic review of case report studies of patients diagnosed with IA (1983-2016). Each included case was characterized with respect to patient history, IA seizure characteristics, diagnostic workup, and therapy. In addition, comparative analyses were also carried out: two alignments were developed based on the delay between epilepsy onset and IA onset ("new-onset" if <1 year, "late-onset" if ≥1 year) and asystole duration (asystole was "very prolonged" if lasted >30 s). RESULTS: One hundred fifty-seven cases were included. All patients had focal epilepsy. In 7% of cases IA developed during a secondary generalized tonic-clonic seizure. Both the seizure-onset zone and the focal seizure activity at asystole beginning were usually temporal (p < 0.001 and p = 0.001, respectively) and were lateralized to the left hemisphere in 62% (p = 0.005 and p = 0.05, respectively). Asystole duration was 18 ± 14 s (mean±SD) (range 3-96 s); 73% of patients had late-onset, 27% had new-onset IA. Compared to late-onset IA, new-onset IA was associated with female gender (p = 0.023), preexisting heart condition (p = 0.014), focal seizure activity at asystole beginning (p = 0.012), normal neuroimaging (p = 0.013), normal interictal EEG (p < 0.001), auditory aura (p = 0.012), and drug-responsive epilepsy (p < 0.001). "Very prolonged" asystole was associated with secondary generalized tonic-clonic seizures (p = 0.003) and tended to occur in extratemporal lobe seizures (p = 0.074). No IA-related death was reported. SIGNIFICANCE: Characteristics considered to be typical of IA (focal, left temporal seizures appearing on grounds of a long-lasting, intractable epilepsy) seem only partially legitimate. We suggest that in new-onset IA, female gender and a preexisting heart condition could serve as predispositions in an otherwise benign epilepsy. We speculate that in late-onset IA, male-predominant changes in neuronal networks in chronic, intractable epilepsy and an accompanying autonomic dysregulation serve as facilitating factors.

Ultrasonography in neuralgic amyotrophy: Sensitivity, spectrum of findings, and clinical correlations.

INTRODUCTION: The aim of this study was to assess the value of ultrasonography in neuralgic amyotrophy. METHODS: Fifty-three patients with 70 affected nerves were examined with high-resolution ultrasound. RESULTS: The most commonly affected nerve was the anterior interosseous (23%). Ultrasonographic abnormalities in the affected nerves, rather than in the brachial plexus, were observed, with an overall sensitivity of 74%. Findings included the swelling of the nerve/fascicle with or without incomplete/complete constriction and rotational phenomena (nerve torsion and fascicular entwinement). A significant difference was found among the categories of ultrasonographic findings with respect to clinical outcome (P = 0.01). In nerves with complete constriction and rotational phenomena, reinnervation was absent or negligible, indicating surgery was warranted. DISCUSSION: Ultrasonography may be used as a diagnostic aid in neuralgic amyotrophy, which was hitherto a clinical and electrophysiological diagnosis, and may also help in identifying potential surgical candidates. Muscle Nerve 56: 1054-1062, 2017.

[Experience with natalizumab-treatment at Semmelweis University]. / Natalizumabkezeléssel szerzett tapasztalataink a Semmelweis Egyetem Neurológiai Klinikáján.

Multiple sclerosis is an autoimmune demyelinating disorder of the central nervous system. During the last two decades, numerous disease modifying drugs have been introduced for the treatment of the relapsing-remitting form of the disease. Since 2010, natalizumab (NTZ) treatment has been used as a second-line therapy for patients with breakthrough disease. In comparison to conventional immunomodulant drugs, NTZ has a more specific effect in that it prevents the entry of immune cells into the central nervous system without interfering with systemic immune response. The efficacy and the safety of NTZ have been confirmed by several studies. The most severe side-effect of NTZ is progressive multifocal leukoencephalopathy, which has been associated with an increased incidence in patients with anti-JCV antibody positivity, and in those who have been undergoing NTZ treatment for over two years and who have received prior immunosuppressive therapy. In the present study, our experience with natalizumab treatment of 37 patients at the Department of Neurology of Semmelweis University during the last 6 years is presented. We have observed a significant decrease of disease activity in our patients; in many cases the disease has become inactive both clinically (36/37) and radiologically (34/37). The patients' quality of life has improved significantly during the treatment. In accordance with the literature, we confirm that NTZ is a highly effective treatment in a carefully selected patient group, and can be administered without significant inconvenience to the patient.

[Is second-line immunomodulatory treatment effective in multiple sclerosis?] / Elonyös a másodvonalbeli immunmoduláns kezelés sclerosis multiplexben?

BACKGROUND AND PURPOSE: Natalizumab is the first evidence based monoclonal antibody, which was launched for treatment in relapsing remitting multiple sclerosis in Hungary in 2010. Standardized follow-up is required to use it. METHODS: Our aim was to evaluate the efficacy and to monitor the safety of natalizumab treatment by using an electronic database established for MS registry. Clinical activity was measured by annual relapse rates, functional status of patients measured by EDSS and MFSC. Radiological activity was evaluated by standard MRI protocol. Data, results of MS patients and side effects of natalizumab treatment were recorded in iMed software. RESULTS: 31 patients started the natalizumab treatment after 6.5±5.8 years from the onset of MS. The efficacy of treatment was evaluated after a mean of 67 (min: 14 max: 128) infusions in December 2016. The drop-out rate was low, due to the presence of neutralising antibodies in one case, pregnancy in two cases and development of malignant disease in one case which was not related to the natalizumab treatment. The treatment was well tolerated with excellent compliance without serious side effects. The annual relapse rate reduced from a mean of 1.7 to 0.03 (p<0.000001) in the first 12 months of treatment compared to the pretreatment 12 month activity, and it stayed at low level during the whole follow up. EDSS was stable or improved with an exception of two cases. In 23 subjects (77%) lack of new/enlarging T2 lesions and lack of gadolineum-enhancing lesions on MRI were observed. 18 patients (60%) had no evidence of disease activity (NEDA-3). PASAT test improved in most of the cases. CONCLUSION: The natalizumab therapy was very effective in all cases including those patients who had active disease under the previous immunomodulatory treatment.

Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe.

OBJECTIVE: In 2014 the European Union-funded E-PILEPSY project was launched to improve awareness of, and accessibility to, epilepsy surgery across Europe. We aimed to investigate the current use of neuroimaging, electromagnetic source localization, and imaging postprocessing procedures in participating centers. METHODS: A survey on the clinical use of imaging, electromagnetic source localization, and postprocessing methods in epilepsy surgery candidates was distributed among the 25 centers of the consortium. A descriptive analysis was performed, and results were compared to existing guidelines and recommendations. RESULTS: Response rate was 96%. Standard epilepsy magnetic resonance imaging (MRI) protocols are acquired at 3 Tesla by 15 centers and at 1.5 Tesla by 9 centers. Three centers perform 3T MRI only if indicated. Twenty-six different MRI sequences were reported. Six centers follow all guideline-recommended MRI sequences with the proposed slice orientation and slice thickness or voxel size. Additional sequences are used by 22 centers. MRI postprocessing methods are used in 16 centers. Interictal positron emission tomography (PET) is available in 22 centers; all using 18F-fluorodeoxyglucose (FDG). Seventeen centers perform PET postprocessing. Single-photon emission computed tomography (SPECT) is used by 19 centers, of which 15 perform postprocessing. Four centers perform neither PET nor SPECT in children. Seven centers apply magnetoencephalography (MEG) source localization, and nine apply electroencephalography (EEG) source localization. Fourteen combinations of inverse methods and volume conduction models are used. SIGNIFICANCE: We report a large variation in the presurgical diagnostic workup among epilepsy surgery centers across Europe. This diversity underscores the need for high-quality systematic reviews, evidence-based recommendations, and harmonization of available diagnostic presurgical methods.

Age at onset and seizure frequency affect white matter diffusion coefficient in patients with mesial temporal lobe epilepsy.

In mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS), structural abnormalities are present not only in the hippocampus but also in the white matter with ipsilateral predominance. Although the timing of epilepsy onset is commonly associated with clinical and semiological dissimilarities, limited data exist regarding white matter diffusion changes with respect to age at epilepsy onset. The aim of this study was to investigate diffusion changes in the white matter of patients with unilateral MTLE-HS with respect to clinical parameters and to compare them with an age- and sex-matched healthy control group. Apparent diffusion coefficients (ADCs) were derived using monoexponential approaches from 22 (11 early and 11 late age at onset) patients with unilateral MTLE-HS and 22 age- and sex-matched control subjects after acquiring diffusion-weighted images on a 3T MRI system. Data were analyzed using two-tailed t-tests and multiple linear regression models. In the group with early onset MTLE-HS, ADC was significantly elevated in the ipsilateral hemispheric (p=0.04) and temporal lobe white matter (p=0.01) compared with that in controls. These differences were not detectable in late onset MTLE-HS patients. Apparent diffusion coefficient of the group with early onset MTLE-HS was negatively related to age at epilepsy onset in the ipsilateral hemispheric white matter (p=0.03) and the uncinate fasciculus (p=0.03), while in patients with late onset MTLE-HS, ADC was no longer dependent on age at epilepsy onset itself but rather on the seizure frequency in the ipsilateral uncinate fasciculus (p=0.03). Such diffusivity pattern has been associated with chronic white matter degeneration, reflecting myelin loss and higher extracellular volume which are more pronounced in the frontotemporal regions and also depend on clinical features. In the group with early onset MTLE-HS, the timing of epilepsy seems to be the major cause of white matter abnormalities while in late onset disease, it has a secondary role in provoking diffusion changes.

Deep brain stimulation or thalamotomy in fragile X-associated tremor/ataxia syndrome? Case report.

We present the case of a 66-year-old man who has been treated for essential tremor since the age of 58. He developed mild cerebellar gait ataxia seven years after tremor onset. Moderate, global brain atrophy was identified on MRI scans. At the age of 68, only temporary tremor relief could be achieved by bilateral deep brain stimulation of the ventral intermedius nucleus of the thalamus. Bilateral stimulation of the subthalamic nucleus also resulted only in transient improvement. In the meantime, progressive gait ataxia and tetraataxia developed accompanied by other cerebellar symptoms, such as nystagmus and scanning speech. These correlated with progressive development of bilateral symmetric hyperintensity of the middle cerebellar peduncles on T2 weighted MRI scans. Genetic testing revealed premutation of the FMR1 gene, establishing the diagnosis of fragile X-associated tremor/ataxia syndrome. Although this is a rare disorder, it should be taken into consideration during preoperative evaluation of essential tremor. Postural tremor ceased two years later after thalamotomy on the left side, while kinetic tremor of the right hand also improved.

LONG TERM FOLLOW-UP OF LESIONAL AND NON-LESIONAL PATIENTS WITH ELECTRICAL STATUS EPILEPTICUS IN SLOW WAVE SLEEP.

OBJECTIVES: A retrospective study has been done at the Bethesda Children's Hospital Epilepsy Center with those patients whose EEG records fulfilled in one or more records the criteria of electrical status epilepticus in slow wave sleep (ESES) pattern, occupying at least 75% of NREM sleep with bilateral discharges, and had detailed disease history and long term follow-up data, between 2000 and 2012. PATIENTS AND METHODS--Thirty-three patients (mean 11.1 +/- 4.2 years of age) were studied by 171 sleep EEG records. Sleep was recorded after sleep deprivation or during spontaneous sleep at least for one hour length of NREM. From the 492 EEGs, 171 sleep records were performed (average five/patient). Average follow-up time was 7.5 years. Eighty-two ESES records have been analyzed in 15 non-lesional and 18 lesional (11 with dysgenetic and seven with perinatal-asphyxic or vascular origin) patients. Variability of seizure types, seizure frequency and frequency of status epilepticus was higher in the lesional group. Impairment of the cognitive functions was moderate and partial in the non-lesional, while severely damaged in the lesional group. RESULTS: EEG records of 29 patients shawed unihemispherial spike fields with a perpendicular axis (in anterior, medial and posterior variants) to the Sylvian fissure, regardless their lesional or non-lesional origin. Only three (lone nonlesional and two lesional) patients had bilateral synchronous spike-wave discharges with bilateral symmetric frontocentral spike fields. The individual discharges of the sleep EEG pattern were very similar to the awake interictal records except their extension in time and field, their increased number, amplitude, and continuity of them and furthermore in the increased trans-hemispheral propagation and their synchronity. CONCLUSIONS: Assumed circuits involved in the pathomechanism of discharges during NREM sleep in ESES are discussed based on our findings.

Ultrasonographic identification of nerve pathology in neuralgic amyotrophy: Enlargement, constriction, fascicular entwinement, and torsion.

INTRODUCTION: The aim of this study was to characterize the ultrasonographic findings on nerves in neuralgic amyotrophy. METHODS: Fourteen patients with neuralgic amyotrophy were examined using high-resolution ultrasound. RESULTS: Four types of abnormalities were found: (1) focal or diffuse nerve/fascicle enlargement (57%); (2) incomplete nerve constriction (36%); (3) complete nerve constriction with torsion (50%; hourglass-like appearance); and (4) fascicular entwinement (28%). Torsions were confirmed intraoperatively and were seen on the radial nerve in 85% of patients. A significant correlation was found between no spontaneous recovery of nerve function and constriction/torsion/fascicular entwinement (P = 0.007). CONCLUSION: Ultrasonographic nerve pathology in neuralgic amyotrophy varies in order of severity from nerve enlargement to constriction to nerve torsion, with treatment ranging from conservative to surgical. We postulate that the constriction caused by inflammation is the precursor of torsion and that development of nerve torsion is facilitated by the rotational movements of limbs.

Linking peripheral atherosclerosis to blood-brain barrier disruption: elucidating its role as a manifestation of cerebral small vessel disease in vascular cognitive impairment.

Aging plays a pivotal role in the pathogenesis of cerebral small vessel disease (CSVD), contributing to the onset and progression of vascular cognitive impairment and dementia (VCID). In older adults, CSVD often leads to significant pathological outcomes, including blood-brain barrier (BBB) disruption, which in turn triggers neuroinflammation and white matter damage. This damage is frequently observed as white matter hyperintensities (WMHs) in neuroimaging studies. There is mounting evidence that older adults with atherosclerotic vascular diseases, such as peripheral artery disease, ischemic heart disease, and carotid artery stenosis, face a heightened risk of developing CSVD and VCID. This review explores the complex relationship between peripheral atherosclerosis, the pathogenesis of CSVD, and BBB disruption. It explores the continuum of vascular aging, emphasizing the shared pathomechanisms that underlie atherosclerosis in large arteries and BBB disruption in the cerebral microcirculation, exacerbating both CSVD and VCID. By reviewing current evidence, this paper discusses the impact of endothelial dysfunction, cellular senescence, inflammation, and oxidative stress on vascular and neurovascular health. This review aims to enhance understanding of these complex interactions and advocate for integrated approaches to manage vascular health, thereby mitigating the risk and progression of CSVD and VCID.

[Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis]. / Új TSC1-mutációval társuló variábilis fenotípus sclerosis tuberosában.

Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a Hungarian family with broad phenotypic variability. First, the 5-year-old boy, showing the most symptoms was examined, whose first seizure occurred at 15 months and a cranial magnetic resonance imaging revealed numerous intracerebral calcareous foci. Except of hypopigmented skin spots, no other abnormality was found on physical examination. The mother was completely asymptomatic. Epilepsy of the maternal uncle started at the age of 3 years, of his sister at the age of 17 years and of the maternal grandmother at the age of 39 years. At the age of 52 years the grandmother developed renal cysts. Molecular genetic analysis of the family confirmed a de novo heterozygous point mutation (c.2524 C\>T) [corrected] in exon 20 of the TSC1 gene. The mutation was detected in all examined family members. Despite increasing data on the pathomechanism of tuberous sclerosis, there is still little known about the genetic modifying factors influencing the broad intra- and interfamilial phenotypic variability.

Mild encephalitis/encephalopathy with a reversible splenial lesion in children.

Authors, most of them Japanese, have recently published an increasing number of articles on mild encephalitis/encephalopathy with a reversible splenial lesion. We report on two new white European patients and compare published data with our own observations. A 15-year-old girl developed headache, fever, dizziness, vomiting and nuchal rigidity over four days. CSF showed elevated protein and cell count, with the lowest serum Na being 131 mmol/L. MRI on day seven was normal, but she remained febrile, had cerebral edema and episodes of confusion. MRI on day 11 showed a small T2-hyperintense lesion with restricted diffusion in the callosal splenium. Adenoviral infection was proved, and the girl underwent a protracted course of recovery. MRI signal changes improved in six days and disappeared after four months. A 12.5-year-old girl developed headache, lethargy, drowsiness and vomiting. On day five she experienced right-sided numbness, weakness and inability to speak which lasted 12 hours. She was confused and disoriented. MRI disclosed a tiny area of increased T2-signal and restricted diffusion in the splenium. Serum Na was 133 mmol/L, CSF cell count and protein was markedly elevated, and enteroviral infection was detected. Echocardiography showed no changes predisposing to clot formation and no thrombophilia was found. Her symptoms resolved in a week and MRI was normal two months later. These two non-epileptic children increase the small number of white European patients with MERS reported so far. Both had hyponatremia and encephalitis and patient 2 had transient ischemic attack, possibly due to the cerebral edema also resulting in the splenial lesion.

Automatic brain MRI motion artifact detection based on end-to-end deep learning is similarly effective as traditional machine learning trained on image quality metrics.

Head motion artifacts in magnetic resonance imaging (MRI) are an important confounding factor concerning brain research as well as clinical practice. For this reason, several machine learning-based methods have been developed for the automatic quality control of structural MRI scans. Deep learning offers a promising solution to this problem, however, given its data-hungry nature and the scarcity of expert-annotated datasets, its advantage over traditional machine learning methods in identifying motion-corrupted brain scans is yet to be determined. In the present study, we investigated the relative advantage of the two methods in structural MRI quality control. To this end, we collected publicly available T1-weighted images and scanned subjects in our own lab under conventional and active head motion conditions. The quality of the images was rated by a team of radiologists from the point of view of clinical diagnostic use. We present a relatively simple, lightweight 3D convolutional neural network trained in an end-to-end manner that achieved a test set (N = 411) balanced accuracy of 94.41% in classifying brain scans into clinically usable or unusable categories. A support vector machine trained on image quality metrics achieved a balanced accuracy of 88.44% on the same test set. Statistical comparison of the two models yielded no significant difference in terms of confusion matrices, error rates, or receiver operating characteristic curves. Our results suggest that these machine learning methods are similarly effective in identifying severe motion artifacts in brain MRI scans, and underline the efficacy of end-to-end deep learning-based systems in brain MRI quality control, allowing the rapid evaluation of diagnostic utility without the need for elaborate image pre-processing.

Bilateral simultaneous thalamic hematomas - Unusual presentation of intracerebral hemorrhage: A case report.

Background: Bilateral symmetrical simultaneous thalamic hemorrhages are extremely rare. Case presentation: A 52-year-old female patient with a history of untreated hypertension, ischemic heart disease and type 2 diabetes mellitus was admitted with somnolence, disorientation, 3/5 right-sided hemiparesis and blood pressure of 200/110 mmHg. Cranial CT scan showed bilateral thalamic hemorrhages, with bilateral intraventricular propagation and subarachnoid component along the frontal, parietal and occipital lobes. CT angiography did not show any source of bleeding or cerebral vein or sinus thrombosis. Coagulation laboratory parameters were in normal range.The patient was treated with a combination of intravenous and oral antihypertensive medication; five days later she become normotensive with improving motor function but was still somnolent.Six weeks later she was fully alert, motor functions continued to improve, but had severe cognitive deficit. Repeated neuropsychological assessment showed a slow and moderate improvement of a major neurocognitive impairment. At discharge her Mini Mental State Examination score was 13/30 and Addenbrooke's Cognitive Examination III score was 42/100.Cranial MRI scan eight weeks later depicted subacute-chronic stages of the bilateral hemorrhages, regression of perifocal edema, cerebral microbleeds in the left external capsule and the pons.At discharge after 2 months, she was alert, had no focal neurological signs, but was unable to care for herself due to lack of motivation, spatial and temporal disorientation and severe cognitive deficit. Conclusion: Simultaneous bilateral thalamic hemorrhages are extremely rare, the most commonly observed symptom is cognitive impairment. Our case was caused by hypertensive crisis, but in the differential diagnosis, sinus thrombosis, hemorrhagic transformation of ischemic stroke and various hemophilias should be considered.