Analysis of the EEG Dynamics of Epileptic Activity in Gelastic Seizures Using Decomposition in Independent Components

Objective: Gelastic seizures are a frequent and well established manifestation of the epilepsy associated with hypothalamic hamartomas. The scalp EEG recordings very seldom demonstrate clear spike activity and the information about the ictal epilepsy dynamics is limited. In this work, we try to isolate epileptic rhythms in gelastic seizures and study their generators. Methods: We extracted rhythmic activity from EEG scalp recordings of gelastic seizures using decomposition in independent components (ICA) in three patients, two with hypothalamic hamartomas and one with no hypothalamic lesion. Time analysis of these rhythms and inverse source analysis was done to recover their foci of origin and temporal dynamics. Results: In the two patients with hypothalamic hamartomas consistent ictal delta (2–3 Hz) rhythms were present, with subcortical generators in both and a superficial one in a single patient. The latter pattern was observed in the patient with no hypothalamic hamartoma visible in MRI. The deep generators activated earlier than the superficial ones, suggesting a consistent sub-cortical origin of the rhythmical activity. Conclusions: Our data is compatible with early and brief epileptic generators in deep sub-cortical regions and more superficial ones activating later. Significance: Gelastic seizures express rhythms on scalp EEG compatible with epileptic activity originating in sub-cortical generators and secondarily involving cortical ones

Macular and Optic Disc Edema and Retinal Vascular Leakage in Familial Amyloid Polyneuropathy with a Transthyretin Val30Met Mutation: a Case Report

Introduction: Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy. Case presentation: A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneuropathy presented with rapidly progressing visual loss in his left eye. He had undergone liver transplantation at the age of 30 with neurologic stabilization. Fundoscopy and fluorescein angiogram revealed optic disc and macular edema as well as vessel wall staining with leakage in the posterior pole and mid-periphery, without vitreous opacities. A diagnostic work-up for infectious, autoimmune and neoplasic conditions was negative. Systemic immunosuppression was increased but without improvement. Sustained resolution of macular edema was observed after intravitreal injection of dexamethasone implant and laser panretinal photocoagulation. Conclusions: To the best of our knowledge, this is the first report of a rare ocular manifestation of familial amyloid polyneuropathy which represents a new therapeutic challenge. Intravitreal injection of sustained release dexamethasone implant and panretinal photocoagulation may be an effective eye-saving therapeutic approach.info:eu-repo/semantics/publishedVersio

Predictors of walking capacity in peripheral arterial disease patients

OBJECTIVE: To estimate walking capacity in intermittent claudication patients through a prediction model based on clinical characteristics and the walking impairment questionnaire. METHODS: The sample included 133 intermittent claudication patients of both genders aged between 30 and 80 years. Data regarding clinical characteristics, the walking impairment questionnaire and treadmill walking test performance were obtained. Multiple regression modeling was conducted to predict claudication onset distance and total walking distance using clinical characteristics (age, height, mass, body mass index, ankle brachial index lower, gender, history of smoking and co-morbid conditions) and walking impairment questionnaire responses. Comparisons of claudication onset distance and total walking distance measured during treadmill tests and estimated by a regression equation were performed using paired t-tests. RESULTS: Co-morbid conditions (diabetes and coronary artery disease) and questions related to difficulty in walking short distances (walking indoors - such as around your house and walking 5 blocks) and at low speed (walking 1 block at average speed - usual pace) resulted in the development of new prediction models high significant for claudication onset distance and total walking distance (p0.05) were observed. CONCLUSION: The current study demonstrated that walking capacity can be adequately estimated based on co-morbid conditions and responses to the walking impairment questionnaire

Ophthalmoplegic Migraine and Infundibular Dilatation of a Cerebral Artery

Ophthalmoplegic migraine (OM) is a childhood disorder of uncertain etiology manifesting recurrent unilateral headache associated with a transitory oculomotor (usually IIIrd nerve) palsy. Recent publications emphasize the finding on MRI of contrast enhancement in the IIIrd nerve suggesting that OM may be a recurrent inflammatory neuropathy. We report the case of a 7-year-old boy with typical symptoms of this disorder. Angio MR and Angio CT revealed the presence of an infundibular dilatation of a perforating branch of the posterior cerebral artery adjacent to the symptomatic IIIrd nerve. We speculate that this and perhaps other cases of OM may have a different pathophysiology related to compression of the IIIrd nerve by an adjacent vascular structure that could activate the trigeminovascular system and produce migrainous pain

Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis

Phacoemulsification Versus Peripheral Iridotomy in the Management of Chronic Primary Angle Closure: Long-Term Follow-Up

Primary angle closure occurs as a result of crowded anterior segment anatomy, causing appositional contact between the peripheral iris and trabecular meshwork, thereby obstructing aqueous outflow. Several studies highlight the role of the crystalline lens in its pathogenesis. The objective of this work is to compare the long-term efficacy of phacoemulsification versus laser peripheral iridotomy (LPI) in the management of chronic primary angle closure (CPAC). Prospective case-control study with 30 eyes of 30 patients randomly divided in two groups: 15 eyes in the LPI group and 15 eyes in the IOL group. Patients in the LPI group underwent LPI using argon and Nd:YAG laser. Patients in the IOL group underwent phacoemulsification with posterior chamber intraocular lens (IOL) implantation. Examinations before and after the procedure included gonioscopy, Goldmann applanation tonometry, and anterior chamber evaluation using the Pentacam rotating Scheimpflug camera. The mean follow-up time was 31.13 ± 4.97 months. There was a statistically significant reduction in the intraocular pressure (IOP) and number of anti-glaucoma medications (p < 0.01) only in the IOL group. Anterior chamber depth, angle, and volume were all higher in the IOL group (p < 0.01) at the end of the follow-up period. Phacoemulsification with posterior chamber IOL implantation results in a higher anterior chamber depth, angle, and volume, when compared to LPI. Consequently, phacoemulsification has greater efficacy in lowering IOP and preventing its long-term increase in patients with CPAC and cataract

The BOLD Effect of Interictal Spike Activity in Childhood Occipital Lobe Epilepsy

Occipital lobe epilepsy (OLE) presents in childhood with different manifestations, age of onset and EEG features that form distinct syndromes. The ictal clinical symptoms are difficult to correlate with onset in particular areas in the occipital lobes, and the EEG recordings have not been able to overcome this limitation. The mapping of epileptogenic cortical regions in OLE remains therefore an important goal in our understanding of these syndromes

Geoprivacy in Neighbourhoods and Health Research: A Mini-Review of the Challenges and Best Practices in Epidemiological Studies

Neighbourhood and health research often relies on personal location data (e.g., home address, daily itineraries), despite the risks of geoprivacy breaches. Thus, geoprivacy is an important emerging topic, contemplated in international regulations such as the General Data Protection Regulation. In this mini-review, we briefly assess the potential risks associated with the usage of personal location data and provide geoprivacy-preserving recommendations to be considered in epidemiological research. Risks include inference of personal information that the individual does not wish to disclose, reverse-identification and security breaches. Various measures should be implemented at different stages of a project (pre-data collection, data processing, data analysis/publication and data sharing) such as informed consent, pseudo-anonymization and geographical methods. Copyright © 2022 Ribeiro, Dias, Ribeiro, Silva and Barros.This study was funded by FEDER through the Operational Programme Competitiveness and Internationalisation and national funding from the Foundation for Science and Technology—FCT (Portuguese Ministry of Science, Technology and Higher Education) under the Unidade de Investigação em Epidemiologia—Instituto de Saúde Pública da Universidade do Porto (EPIUnit) (UIDB/04750/2020), Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR) (LA/P/0064/2020) and the project “HUG: The health impacts of inner-city gentrification, displacement and housing insecurity: a quasi-experimental multi-cohort study” (PTDC/GES-OUT/1662/2020). AR was supported by National Funds through FCT, under the “Stimulus of Scientific Employment—Individual Support” programme within the contract CEECIND/02386/2018