Climate change impacts of municipal water sector and mitigation pathways: A national scale analysis and perspectives to carbon neutrality.

The growing concern on global warming has pushed to set ambitious targets of carbon neutrality or net zero at the water sector. Meanwhile, poor data availability has been reported to restrict the national assessment of climate impacts and mitigation strategies in water sector. In national greenhouse gas (GHG) inventories, water sector is embedded in other sectors' emissions making it difficult to monitor separately.

Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.

Objective: Recessive LAMC3 mutations are recognized to cause epilepsy with cortical malformations characterized by polymicrogyria and pachygyria. The objective of this study was to describe the clinical picture and epilepsy phenotype of four patients with a previously undescribed LAMC3 variant.

Methods: All epilepsy patients treated in Kuopio Epilepsy Center (located in Kuopio, Finland) are offered the possibility to participate in a scientific study investigating biomarkers in epilepsy (Epibiomarker study).

Detecting negative myoclonus during long-term home measurements using wearables.

Objective: The aim of this study was to develop a feasible method for the detection of negative myoclonus (NM) through long-term home measurements in patients with progressive myoclonus epilepsy type 1.

Methods: The number and duration of silent periods (SP) associated with NM were detected during a 48 h home recording using wearable surface electromyography (EMG) sensors.

Results: A newly developed algorithm was able to find short (50-69 ms), intermediate (70-100 ms), and long (101- 500 ms) SPs from EMG data.

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex.

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its marked phenotypic heterogeneity is incompletely explained by differences in the causal SCN1A variant or clinical factors. In 34 adults with SCN1A-related Dravet syndrome, we show additional genomic variation beyond SCN1A contributes to phenotype and its diversity, with an excess of rare variants in epilepsy-related genes as a set and examples of blended phenotypes, including one individual with an ultra-rare DEPDC5 variant and focal cortical dysplasia.

Short- and long-interval intracortical inhibition in EPM1 is related to genotype.

Objective: Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSTB gene, most commonly dodecamer repeat expansions. Although transcranial magnetic stimulation (TMS)-induced long-interval intracortical inhibition (LICI) was previously reported to be normal in EPM1, short-interval intracortical inhibition (SICI) was reduced. We explored the association between these measures and the clinical and genetic features in a separate group of patients with EPM1.

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.

Objective: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome.

Physiological symmetry of transcranial magnetic stimulation-evoked EEG spectral features.

Transcranial magnetic stimulation (TMS)-evoked EEG potentials (TEPs) have been used to study the excitability of different cortical areas (CAs) in humans. Characterising the interhemispheric symmetry of TMS-EEG may provide further understanding of structure-function association in physiological and pathological conditions. We hypothesise that, in keeping with the underlying cytoarchitectonics, TEPs in contralateral homologous CAs share similar, symmetric spectral features, whilst ipsilateral TEPs from different CAs diverge in their waveshape and frequency content.

The impact of Transcranial Magnetic Stimulation (TMS) on seizure course in people with and without epilepsy.

Objective: To elucidate the effects of single and paired-pulse TMS on seizure activity at electrographic and clinical levels in people with and without epilepsy.

Methods: A cohort of 35 people with epilepsy, two people with alternating hemiplegia of childhood (AHC) with no epilepsy, and 16 healthy individuals underwent single or paired-pulse TMS combined with EEG. Clinical records and subject interviews were used to examine seizure frequency four weeks before and after TMS.

SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.

Mesial temporal lobe epilepsy with hippocampal sclerosis and a history of febrile seizures is associated with common variation at rs7587026, located in the promoter region of SCN1A. We sought to explore possible underlying mechanisms. SCN1A expression was analysed in hippocampal biopsy specimens of individuals with mesial temporal lobe epilepsy with hippocampal sclerosis who underwent surgical treatment, and hippocampal neuronal cell loss was quantitatively assessed using immunohistochemistry.

Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.

Background And Objectives: Eyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome with a prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of patients with EMA.

Methods: In this multicenter retrospective study, patients with EMA with ≥5 years of follow-up were included.

Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood.

Background: Although described as non-progressive, alternating hemiplegia of childhood (AHC) can display a sudden deterioration, anecdotally reported mainly in childhood. Outcome in adulthood is uncertain.

Objectives: Aim of this study is to describe the long-term follow-up of neurological function in adults with AHC.

Resting-state Functional Connectivity After Occipital Stroke.

Background: Resting-state functional magnetic resonance imaging (rsfMRI) reflects spontaneous activation of cortical networks. After stroke, these networks reorganize, both due to structural lesion and reorganization of functional connectivity (FC).

Objective: We studied FC in chronic phase occipital stroke patients with homonymous visual field defects before and after repetitive transorbital alternating current stimulation (rtACS).

Wearable monitoring of positive and negative myoclonus in progressive myoclonic epilepsy type 1.

Objective: To develop and test wearable monitoring of surface electromyography and motion for detection and quantification of positive and negative myoclonus in patients with progressive myoclonic epilepsy type 1 (EPM1).

Methods: Surface electromyography and three-dimensional acceleration were measured from 23 EPM1 patients from the biceps brachii (BB) of the dominant and the extensor digitorum communis (EDC) of the non-dominant arm for 48 hours. The patients self-reported the degree of myoclonus in a diary once an hour.

Late diagnoses of Dravet syndrome: How many individuals are we missing?

We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow-up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit underwent whole-genome sequencing through the 100 000 Genomes Project. Virtual gene panels were applied to frequency-filtered variants based on phenotype summary.

Non-invasive electrical brain stimulation for vision restoration after stroke: An exploratory randomized trial (REVIS).

Background: Occipital strokes often cause permanent homonymous hemianopia leading to significant disability. In previous studies, non-invasive electrical brain stimulation (NIBS) has improved vision after optic nerve damage and in combination with training after stroke.

Objective: We explored different NIBS modalities for rehabilitation of hemianopia after chronic stroke.

Two-center experience of cannabidiol use in adults with Dravet syndrome.

We describe real-world experience with cannabidiol (CBD) in adults with Dravet Syndrome (DS) via GW Pharma early access programme at two UK neurology centres. Adults with genetically-confirmed DS had CBD added to existing therapy, titrated up to 20 mg/kg, as tolerated. The primary outcome measure was percentage reduction in convulsive seizures.

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.

Objective: The term 'precision medicine' describes a rational treatment strategy tailored to one person that reverses or modifies the disease pathophysiology. In epilepsy, single case and small cohort reports document nascent precision medicine strategies in specific genetic epilepsies. The aim of this multicentre observational study was to investigate the deeper complexity of precision medicine in epilepsy.

Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.

In this cohort study, we aim to compare outcomes from coronavirus disease 2019 (COVID-19) in people with severe epilepsy and other co-morbidities living in long-term care facilities which all implemented early preventative measures, but different levels of surveillance. During 25-week observation period (16 March-6 September 2020), we included 404 residents (118 children), and 1643 caregivers. We compare strategies for infection prevention, control, and containment, and related outcomes, across four UK long-term care facilities.

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy.

Advances in genetics may enable a deeper understanding of disease mechanisms and promote a shift to more personalised medicine in the epilepsies. At present, understanding of consequences of genetic variants mainly relies on preclinical functional work; tools for acquiring similar data from the living human brain are needed. Transcranial magnetic stimulation (TMS), in particular paired-pulse TMS protocols which depend on the function of cortical GABAergic interneuron networks, has the potential to become such a tool.

Food waste case study and monitoring developing in Finnish food services.

For enhancing food waste weighing measurements we established a platform (Restaurant Forum RF) for different kinds of food service businesses. Our aim was to explore food waste data, but also to develop a monitoring system by increasing our knowledge about the relevant processes and possible internal barriers. We studied food waste generation and origin in the outlets and how to avoid overproduction of food and buffet line waste.

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy.

Objective: To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME).

Methods: People with JME were identified from a large database of individuals with epilepsy, which includes detailed retrospective information on AED use. We assessed secular changes in AED use and calculated rates of response (12-month seizure freedom) and adverse drug reactions (ADRs) for the five most common AEDs.

Drug-resistant epilepsy, early-onset hypertension and white matter lesions: a hidden paraganglioma.

We describe the case of a 35-year-old man with focal epilepsy since age 16. Due to a refractory course, several treatments were tried over the years, including insertion of a deep brain stimulator. At the time of his first assessment at our unit, he had recently been diagnosed with hypertension.

Prehospital pathways of occipital stroke patients with mainly visual symptoms.

Objectives: Occipital ischemic strokes typically cause homonymous visual field defects, for which means of rehabilitation are limited. Intravenous thrombolysis is increasingly and successfully used for their acute treatment. However, recognition of strokes presenting with mainly visual field defects is challenging for both patients and healthcare professionals.