Top Ten epilepsy research priorities: A UK priority setting partnership.

Purpose: Research into epilepsy has experienced decades of chronic underfunding compared to other neurological conditions despite its prevalence and seriousness. To evidence the need for greater investment, the Epilepsy Research Institute (formerly Epilepsy Research UK) funded, led and managed a James Lind Alliance (JLA) Priority Setting Partnership (PSP). This "industry standard" methodology brings together healthcare professionals, patients, carers and patient group representatives to identify and prioritise research uncertainties within a defined area of health or care.

Trauma, coping, and adjustment when parenting a child with Dravet syndrome.

Objectives: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that requires significant caregiver input across the lifespan. This predominantly falls on parents, who are faced with considerable challenges including physical demands, financial burdens, and sustained pressure on mental wellbeing leading to mental health difficulties. We aimed to develop a grounded theory model for the process of coping and adjustment that occurs when caring for a child who has a diagnosis of DS.

Investigation of the Association of Acute Pancreatitis Outcomes with Social Vulnerability Indicators.

Background And Aim: Geospatial analyses integrate location-based sociodemographic data, offering a promising approach to investigate the impact of social determinants on acute pancreatitis outcomes. This study aimed to examine the association of Social Vulnerability Index (SVI) and its constituent 16 attributes in 4 domains (socioeconomic status, household composition and disability, minority status and language, and housing type and transportation), with outcomes in patients with acute pancreatitis.

Methods: This study included acute pancreatitis patients hospitalized between 1/1/2008 and 12/31/2021 and recorded their demographics and clinical outcomes.

INVESTIGATION OF GEOSPATIAL DISPARITIES IN CHRONIC PANCREATITIS OUTCOMES.

Objectives: Chronic pancreatitis (CP) is a fibro-inflammatory disorder characterized by abdominal pain and exocrine and endocrine pancreatic insufficiency resulting in significant morbidity. This study evaluates the impact of geospatial parameters, assessed using the Social Vulnerability Index (SVI), a tool comprising sixteen social attributes, on CP outcomes, including opioid use.

Methods: We conducted a retrospective analysis of CP patients with available addresses followed at our pancreas center.

ILAE neonatal seizure framework to aide in determining etiology.

Objective: To employ the neonatal seizure framework developed by the International League Against Epilepsy (ILAE) Neonatal Task force to assess its usefulness in determining the etiology of neonatal seizures.

Methods: The members of the ILAE Neonatal Task Force evaluated 157 seizures from 146 neonates to determine internal validity and associations between semiology and a specific etiology.

Results: Provoked neonatal electrographic and electroclinical seizures were due to multiple etiologies.

Impact of Interhospital Transfer on Outcomes in Acute Pancreatitis: Implications for Healthcare Quality.

: Effective management of acute pancreatitis (AP) hinges on prompt volume resuscitation and is adversely affected by delays in diagnosis. Given diverse clinical settings (tertiary care vs. community hospitals), further investigation is needed to understand the impact of the initial setting to which patients presented on clinical outcomes and quality of care.

Caregiver burden and therapeutic needs in Dravet syndrome - A national UK cross-sectional questionnaire study.

Background And Objectives: Dravet Syndrome is a severe developmental and epileptic encephalopathy with significant care needs for affected individuals and families. Our objective was to characterise the caregiver burden and therapeutic needs of families caring for an individual with Dravet Syndrome from child to adulthood, to examine age related differences in co-morbidities, and identify current gaps in health and social care.

Methods: Cross-sectional national survey conducted by the patient advocacy group Dravet Syndrome UK (DSUK) emailed to registered families caring for an individual with a confirmed diagnosis of Dravet syndrome.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Objective: POLR3B encodes the second largest subunit of RNA polymerase III, which is essential for transcription of small non-coding RNAs. Biallelic pathogenic variants in POLR3B are associated with an inherited hypomyelinating leukodystrophy. Recently, de novo heterozygous variants in POLR3B were reported in six individuals with ataxia, spasticity, and demyelinating peripheral neuropathy.

Developmental and epileptic encephalopathies.

Developmental and epileptic encephalopathies, the most severe group of epilepsies, are characterized by seizures and frequent epileptiform activity associated with developmental slowing or regression. Onset typically occurs in infancy or childhood and includes many well-defined epilepsy syndromes. Patients have wide-ranging comorbidities including intellectual disability, psychiatric features, such as autism spectrum disorder and behavioural problems, movement and musculoskeletal disorders, gastrointestinal and sleep problems, together with an increased mortality rate.

CSF-profile and hypocretin levels in children with narcolepsy type 1 and 2.

Background: Narcolepsy is a rare neurological disease caused by dysfunction of hypocretin-producing neurons. Hypocretin concentrations in the cerebrospinal fluid (CSF) of less than 110 pg/ml are considered pathological in adults.

Objectives: To compare hypocretin levels of children with narcolepsy type 1, type 2 and disease control groups, in addition to a detailed CSF analysis, clinical and polysomnographic parameters.

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Objective: To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS).

Methods: All patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn from our Epilepsy Genetics research program, together with 10 etiologically solved patients referred by collaborators in the Expanded cohort (n = 101). Detailed phenotyping and analysis of molecular genetic results were performed.

Preclinical Development of a Romidepsin Nanoparticle Demonstrates Superior Tolerability and Efficacy in Models of Human T-Cell Lymphoma and Large Granular Lymphocyte Leukemia.

Histone deacetylase (HDAC) inhibitors are a widely recognized and valued treatment option for patients with relapsed or refractory peripheral T cell lymphomas (PTCL). Romidepsin is a relatively selective Class I HDAC inhibitor originally approved for patients with relapsed or refractory (R/R) cutaneous T cell lymphoma (CTCL) and subsequently R/R PTCL. Unfortunately, the FDA approval of romidepsin for R/R PTCL was withdrawn due to a negative Phase 4 post-marketing requirement (PMR), diminishing further the treatment options for patients with PTCL.

Assessing the standard of emergency general surgical (EGS) operation notes in accordance with the Royal College of Surgeons guidelines.

Objectives: Operation notes are important for care in surgical patients. The objectives of this study were to analyze the emergency general surgery (EGS) operation note documentation in accordance with the Royal College of Surgeons of England (RCSEng) guidelines and to assess the impact of creating awareness of the guidelines and effect of a new proforma.

Material And Methods: A retrospective review of 50 EGS operation notes was conducted between December 2019 and March 2020 and compared to RCSEng guidelines.

Impact of Ethno-racial Factors on Clinical Outcomes and Health Care Utilization in Chronic Pancreatitis.

Background: Healthcare disparities adversely affect clinical outcomes in racial and ethnic minorities. Chronic pancreatitis (CP) is a complex disorder, and pressures for time and cost-containment may amplify the disparity for minorities in this condition. This study aimed to assess ethno-racial differences in the clinical outcomes of CP patients cared for at our institution.

Impact of Gastrojejunostomy Anastomosis Diameter on Weight Loss Following Laparoscopic Gastric Bypass: A Systematic Review.

Laparoscopic Roux-en-Y gastric bypass (RYGB) is crucial for significant weight reduction and treating obesity-related issues. However, the impact of gastrojejunostomy (GJ) anastomosis diameter on weight loss remains unclear. We investigate this influence on post-RYGB weight loss outcomes.

Improving epilepsy diagnosis across the lifespan: approaches and innovations.

Epilepsy diagnosis is often delayed or inaccurate, exposing people to ongoing seizures and their substantial consequences until effective treatment is initiated. Important factors contributing to this problem include delayed recognition of seizure symptoms by patients and eyewitnesses; cultural, geographical, and financial barriers to seeking health care; and missed or delayed diagnosis by health-care providers. Epilepsy diagnosis involves several steps.

Treatments and Outcomes Among Patients with Sydenham Chorea: A Meta-Analysis.

Importance: Sydenham chorea is the most common acquired chorea of childhood worldwide; however, treatment is limited by a lack of high-quality evidence.

Objectives: To evaluate historical changes in the clinical characteristics of Sydenham chorea and identify clinical and treatment factors at disease onset associated with chorea duration, relapsing disease course, and functional outcome.

Data Sources: The systematic search for this meta-analysis was conducted in PubMed, Embase, CINAHL, Cochrane Library, and LILACS databases and registers of clinical trials from inception to November 1, 2022 (search terms: [Sydenham OR Sydenham's OR rheumatic OR minor] AND chorea).

A Latent Profile Analysis of the Consensual and Non-Consensual Sexting Experiences among Canadian Adolescents.

Different patterns of sexting behaviors were examined to provide a more nuanced understanding of the context in which sexting occurs among adolescents. Participants were 1,000 Canadian adolescents (50.2% girls) between 12 and 18 years ( = 15.

Characterizing barriers and facilitators of metabolic bariatric surgery tourism: a systematic review.

Background: Metabolic bariatric surgery tourism continues to rise and has become a growing concern for bariatric surgeons globally. With varying degrees of regulation, counselling and success, those that develop complications may have to deal with a multitude of challenges often distant from their country of operation. The aim of this study was to characterize the barriers and facilitators influencing individuals to undergo metabolic bariatric surgery tourism, in order to better understand the implications to the National Health Service and other healthcare systems.

Upregulation of Nrf2 in myocardial infarction and ischemia-reperfusion injury of the heart.

Myocardial infarction (MI) is a leading cause of morbidity and mortality in the world and is characterized by ischemic necrosis of an area of the myocardium permanently devoid of blood supply. During reperfusion, reactive oxygen species are released and this causes further insult to the myocardium, resulting in ischemia-reperfusion (IR) injury. Since Nrf2 is a key regulator of redox balance, it is essential to determine its contribution to these two disease processes.

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Objective: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype-phenotype associations remain poorly understood.

Methods: We assessed data from a retrospective cohort of 1018 individuals with SCN1A-related epilepsies.