Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

OBJECTIVE: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern. METHODS: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants. Specifically, we analyzed interictal EEG data for all patients, and electro-clinical data from 10 epileptic seizures in 5 patients, using prolonged video-EEG monitoring recordings. Inter-ictal EEG functional connectivity parameters and frequency spectrum of the 10 patients over 12 years of age, were computed and compared with those of 56 age- and sex-matched controls. RESULTS: The main electroclinical features of epilepsy in patients with SYN1 were (1) EEG background and organization mainly normal; (2) interictal abnormalities are often rare or not visible on EEG; (3) more than 60% of patients had reflex seizures (cutaneous contact with water and defecation being the main triggers) isolated or associated with spontaneous seizures; (4) electro-clinical semiology of seizures was mainly temporal or temporo-insulo/perisylvian with a notable autonomic component; and (5) ictal EEG showed a characteristic rhythmic theta/delta activity predominating in temporo-perisylvian regions at the beginning of most seizures. Comparing patients with SYN1 to healthy subjects, we observed a shift to lower frequency bands in power spectrum of interictal EEG and an increased connectivity in both temporal regions. INTERPRETATION: A distinct epilepsy syndrome emerges in patients with SYN1, with a rather characteristic clinical and EEG pattern suggesting predominant temporo-insular involvement. ANN NEUROL 2024.

Neural basis of lower-limb visual feedback therapy: an EEG study in healthy subjects.

BACKGROUND: Video-feedback observational therapy (VOT) is an intensive rehabilitation technique based on movement repetition and visualization that has shown benefits for motor rehabilitation of the upper and lower limbs. Despite an increase in recent literature on the neurophysiological effects of VOT in the upper limb, there is little knowledge about the cortical effects of visual feedback therapies when applied to the lower limbs. The aim of our study was to better understand the neurophysiological effects of VOT. Thus, we identified and compared the EEG biomarkers of healthy subjects undergoing lower limb VOT during three tasks: passive observation, observation and motor imagery, observation and motor execution. METHODS: We recruited 38 healthy volunteers and monitored their EEG activity while they performed a right ankle dorsiflexion task in the VOT. Three graded motor tasks associated with action observation were tested: action observation alone (O), motor imagery with action observation (OI), and motor execution synchronized with action observation (OM). The alpha and beta event-related desynchronization (ERD) and event-related synchronization (or beta rebound, ERS) rhythms were used as biomarkers of cortical activation and compared between conditions with a permutation test. Changes in connectivity during the task were computed with phase locking value (PLV). RESULTS: During the task, in the alpha band, the ERD was comparable between O and OI activities across the precentral, central and parietal electrodes. OM involved the same regions but had greater ERD over the central electrodes. In the beta band, there was a gradation of ERD intensity in O, OI and OM over central electrodes. After the task, the ERS changes were weak during the O task but were strong during the OI and OM (Cz) tasks, with no differences between OI and OM. CONCLUSION: Alpha band ERD results demonstrated the recruitment of mirror neurons during lower limb VOT due to visual feedback. Beta band ERD reflects strong recruitment of the sensorimotor cortex evoked by motor imagery and action execution. These results also emphasize the need for an active motor task, either motor imagery or motor execution task during VOT, to elicit a post-task ERS, which is absent during passive observation. Trial Registration NCT05743647.

Frontal headache in a patient with right temporal epilepsy: A video-EEG case report of ictal epileptic headache.

BACKGROUND: Ictal epileptic headache (IEH) is caused by a focal epileptic seizure. The diagnosis can be challenging when the headache is isolated without any other symptoms. CASE REPORT: A 16-year-old girl presented with a 5-year history of bilateral frontotemporal headaches with severe intensity lasting for 1-3 min. Past medical, physical, and developmental histories were unremarkable. Head magnetic resonance imaging showed right hippocampal sclerosis. The diagnosis of pure IEH was confirmed by video-electroencephalographic monitoring. The onset and cessation of frontal headache correlated with a right temporal discharge. The patient was diagnosed with right mesial temporal lobe epilepsy. Two years later, her seizures increased despite antiseizure medications. A right anterior temporal lobectomy was performed. The patient remained seizure-free and headache-free for 10 years. CONCLUSION: IEH should be considered in the differential diagnosis of brief and isolated headache, even if the headache is diffuse or contralateral to the epileptogenic focus.

Efficacy of a new video observational training method (intensive visual simulation) for motor recovery in the upper limb in subacute stroke: a feasibility and proof-of-concept study.

OBJECTIVE: To demonstrate the feasibility and efficacy  of a new video-observation training method (intensive visual simulation) to improve upper limb function. DESIGN: Small sample, randomized, evaluator-blind, monocentric study. PATIENTS: Seventeen early subacute ischaemic stroke patients with complete hemiplegia were  randomly assigned to the therapeutic group (n = 8) or control group (CG, n = 9). METHODS: Thirty sessions of intensive visual simulation combined with corrected visual feedback (therapeutic group) or uncorrected visual feedback (control group) were performed over 6 weeks on top of a standard rehabilitation programme. MAIN OUTCOME MEASURE: 400-point hand assessment test (400p-HA). SECONDARY OUTCOME MEASURES: Box and Blocks (B&B), Purdue Pegboard test, Minnesota. RESULTS: The 400p-HA test improved significantly from T0 to 6 months for both groups, with a significant difference between groups at 3 months (MW-UT p = 0.046) and 4 months (MW-UT p = 0.046) in favour of the therapeutic group. One-phase exponential modelling of 400p-HA showed a greater plateau for the therapeutic group (F test p = 0.0021). There was also faster recovery of the ability to perform the B&B tests for the therapeutic group (log-rank test p = 0.03). CONCLUSION: This study demonstrated the feasibility and potential efficacy of an intensive visual simulation training programme to improve upper limb  function in subacute stroke patients. A larger study is needed to confirm these results.

Treatment of Acquired Deforming Hypertonia with Botulinum Toxin in Older Population: A Retrospective Study.

Acquired deforming hypertonia (ADH) affects the daily care of numerous nursing home residents. The aim of this study was to analyze the practice, aims, and effectiveness of botulinum toxin injections (BTxis) in the treatment of older patients with contractures, an indication for which BTxis are still underused. Data were extracted retrospectively from medical records regarding population, contractures, and injections. A prospective analysis was conducted to evaluate treatment goals set by goal attainment scaling (GAS) at T0 and at T1, to evaluate the therapeutic effects. We also recorded the occurrence of side effects, using a telephone questionnaire. This study included 41 patients older than 70 years who had received one or more BTxis for the first time between January 2018 and December 2021. Most of the older people we included lived in an institution (66%), manifested severe dependence, and presented significant morbi-mortality (37% of the patients died in the year after the last injection). The main objectives of these injections were purely comfort, without any functional goals. The GAS scores suggested effectiveness for comfort GAS scores. No complications were recorded. This study highlights the BTxis potential to address the needs of a larger number of older patients with ADH.

Percutaneous needle tenotomies: indications, procedures, efficacy and safety. A systematic review.

BACKGROUND: Percutaneous needle tenotomies constitute a promising approach that enables direct access to tendons through minimally invasive interventions. They can be performed rapidly without need for large incisions or general anaesthesia. However, the reported procedures are heterogeneous and currently conducted without guidelines. OBJECTIVES: We aimed to determine the indications for percutaneous needle tenotomies described in the current literature. Our secondary aim was to identify the different procedures reported, as well as their efficacy and their safety. METHODS: A systematic review following PRISMA guidelines was conducted to identify original articles that mentioned percutaneous needle tenotomy in humans and reported its application, description, effectiveness or adverse events. Non-percutaneous tendinous surgical procedures and ineligible designs were excluded. The Downs and Black checklist was used to assess the risk of bias. RESULTS: A total of 540 studies were identified from the MEDLINE, Embase, Cochrane Library, and PEDro databases. Fourteen clinical studies met the inclusion criteria and were found to have an acceptable quality (674 individuals, 1664 tenotomies). Our results indicated a wide variety of indications for percutaneous needle tenotomies in children and in adults. We highlighted 24 tendons as eligible targets in the upper and lower limbs. Tenotomies were performed with either 16- or 18-Ga needles, lasted from 1 to 30 min, and were performed using various procedures. Their efficacy was mainly assessed through clinical outcomes highlighting tendon discontinuity on palpation after the procedure. Passive range-of-motion gains after tenotomy were reported for both upper and lower limbs with an estimated 5 % complication rate. CONCLUSION: This is the first review to systematically synthesize all the available evidence on the indications, procedures, efficacy and safety of percutaneous tenotomies exclusively performed with needles. Current evidence suggests that procedures are safe and effective for treating various deformities. PROSPERO REGISTRATION: CRD42022350571.

A Pilot Study to Assess Transfusion Transmission of Hepatitis C Virus.

Alexandria University blood bank adopted double screening tests: a fully automated chemiluminescence immunoassay followed by nucleic acid testing. The aim of the study was to assess the efficiency of dual check of HCV in preventing transfusion related infection among patients admitted to PICU. A prospective cohort study was carried on patients admitted to PICU during 6 months. The included patients performed HCV RNA detection on admission by conventional reverse transcriptase polymerase chain reaction (RT-PCR) technique. Only negative cases were recruited, then patients receiving blood or its product were checked after 4 weeks from discharge by RT-PCR for HCV RNA. A total of 33 patients received 108 transfusions: 9 patients of them deceased during PICU stay and the remaining 24 patients were all found to be negative for HCV. The dual screening of HCV should be implemented in all blood banks of Egypt especially for critically ill pediatric patients.

Assessment of right ventricular function after successful revascularization for acute anterior myocardial infarction without right ventricular infarction by echocardiography.

BACKGROUND: Right ventricular (RV) involvement in acute left ventricular (LV) myocardial infarction (MI) is frequently underestimated in the clinical setting owing to the diagnostic limitations of the electrocardiogram and echocardiography. OBJECTIVE: To assess RV function in patients presented with first acute anterior ST elevation myocardial infarction (STEMI) who underwent successful primary percutaneous coronary intervention (PCI) and factors affecting it. METHODS: Forty consecutive patients with anterior STEMI who underwent successful primary PCI were enrolled in the study. Presence of a coexisting clinical condition that might affect RV function, patients with RV infarction or those having significant stenosis (>50%) affecting RV branch or right coronary artery proximal to RV branch were excluded. Echocardiography was performed during the hospital stay to assess the LV and RV systolic and diastolic function with special focus on tricuspid annular plane systolic excursion, RV end-diastolic dimension, right atrial area, RV fractional area change, and tissue Doppler-derived myocardial performance index. RESULTS AND CONCLUSION: RV dysfunction according to our definition in the first anterior MI occurred in (55%) of the study population. Independent predictors for abnormal RV function were left circumflex artery mid or proximal affection, eventful procedure, occurrence of no reflow, glucose level, LV end-systolic dimension, LV end-diastolic dimension, and LV ejection fraction.

Safety and efficacy of off-label use of ivabradine in patients with acute heart failure.

BACKGROUND: Ivabradine is approved to improve exercise tolerance and quality of life in patients with chronic heart failure; its use in acute heart failure (AHF) has not previously been studied. METHODS: Forty adult patients admitted with AHF were randomized into two groups; Group 1 patients were prescribed beta-blockers (BBs) and Group 2 patients were prescribed ivabradine. Both groups were given optimum anti-failure treatment for AHF. All patients were assessed for heart rate (HR), 6-minute walk test (6MWT), New York Heart Association (NYHA) classification, and Minnesota Living With Heart Failure Questionnaire (MLWHFQ) before and after 1 month of therapy. RESULTS: BBs or ivabradine among optimum medical therapy for AHF resulted in a significant improvement in all the studied parameters (NYHA class; 6MWT distance; HR and Borg scale dyspnea/fatigue score before and after the walk). The MLWHFQ was significantly worse during the follow-up in both groups. At the end of follow-up, there was a comparable beneficial effect attributed to the significant HR reduction observed in both groups. CONCLUSION: The results of this pilot study demonstrated the safety of the early use of ivabradine alone versus BBs when tolerated in patients admitted with AHF (both acutely decompensated as well as de novo). Both groups achieved comparable reduction in HR with improvement in functional capacity and exercise tolerance.