Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mu...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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ConclusionTo the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40%, and have a significant impact on the quality of life and neurodevelopment of patients.
Source: Seizure - Category: Neurology Source Type: research
The objective of this study was to assess factors associated with research participation among epilepsy clinic patients who screened positive for anxiety or depression. This was accomplished by characterizing clinical and psychiatric factors among patients seen in an epilepsy clinic and evaluating which factors were associated with consent for potential research participation, via a combined clinical and research screening model.MethodsIn a pragmatic trial of anxiety and depression treatment in epilepsy, individuals with a positive screen for anxiety and/or depression at a routine epilepsy clinic visit were invited to opt-...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
The objective of the study was to validate the parent-proxy reported Quality of Life in Childhood Epilepsy Questionnaire (QOLCE) in a sample of young adults with a history of childhood-onset epilepsy, allowing for the utilization of a consistent informant (the parent) across the youths' stages of development. The 55-item (QOLCE-55) and 16-item versions (QOLCE-16) were evaluated.MethodsData came from 134 young adults (aged 18.0 to 28.5 years) with childhood-onset epilepsy, recruited through community and tertiary care centers across Canada. Confirmatory factor analysis (CFA) was used to assess the higher-order factor stru...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
ConclusionsThe impression of and beliefs about epilepsy among the general population as well as among PWE were the primary factors affecting stigma. Thus, there is a need for the provision of accurate information about epilepsy to both these groups. Additional studies on epilepsy-associated stigma employing various methodological approaches are required.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
In conclusion, the current study shed light on the potential neuroprotective role of metformin and trimetazidine in the amelioration of cognitive function via hindering inflammatory processes in diabetic epileptic rats.Graphical abstractDiagram illustrating alterations in the hippocampus induced in diabetic epileptic rats. DAP, death-associated protein; ATP/ADP, ratio of adenosine triphosphate and adenosine diphosphate; mTOR, mammalian target of rapamycin; Casp-3, caspase-3; TNF-α, tumor necrosis factor-α; IL-1β, interleukin-1β; NF-κB, nuclear factor-κB; IGF-1, insulin growth factor 1.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Two lines on a home pregnancy test, a flickering heartbeat on ultrasound, and suddenly your world has changed: you’re pregnant! Regardless of where this new path takes you, you may start to examine your daily decisions in a new way as you discover an intense drive to protect the growing baby inside you. Even your exercise routines may come under scrutiny, particularly if late-night Googling has you second-guessing everything that you believed you knew. Just how safe is exercise during pregnancy? The short answer? Exercise during pregnancy is not only safe, it’s encouraged. An overriding principle for pregnancy ...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Health Source Type: blogs
Source: Clinics in Perinatology - Category: Perinatology & Neonatology Authors: Source Type: research
The idiom “looking for a needle in a haystack” is often used to denote something exceptionally challenging to find. It is based on the idea that a sewing needle in a pile of dry grass would be hard to find. Indeed, such is the case with many rare diseases which display considerable phenotypic and geograph ical heterogeneity even when traced back to their genetic origin. Collectively, diseases affecting fewer than 1 in 2000 individuals are referred to as rare diseases. It is estimated that up to 300 million people worldwide are afflicted with a rare disease and 80% of these have a genetic origin.
Source: Clinics in Perinatology - Category: Perinatology & Neonatology Authors: Tags: Foreword Source Type: research
Mere months after its first product was approved by the FDA, Cambridge ’s Acceleron Pharma is closer to executing a one-two punch after announcing new clinical trial data this week.  Acceleron (Nasdaq: XLRN) reported Monday that its high blood pressure disorder drug sotatercept succeeded in a midstage trial. The rare-disease drug is designed to treat pulmonary arterial hypertension, a condition that causes the small arteries in the lungs to narrow, blocking blood flow and causing pressure…
Source: Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
ConclusionsACT-709478 exhibits good tolerability up to 100  mg once daily using an up-titration regimen and pharmacokinetic properties that support further clinical investigations. A weak induction of gastrointestinal cytochrome P450 3A4 activity was observed, unlikely to be of clinical IdentifierNCT03165097.
Source: CNS Drugs - Category: Neurology Source Type: research
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