Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

ConclusionOur data indicate a mutation ‐related CSF1R gain‐of‐function, accompanied by an altered composition of the peripheral innate immune cells in our patient with HDLS. Since pharmacological targeting of CSF1R with tyrosine kinase inhibitors prevents disease progression in mouse models of neurodegenerative disorders, a potenti al pharmacological benefit of CSF1R inhibition remains to be elucidated for patients with HDLS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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In recent years, epidemiologists have found that waist circumference is a better measure of the burden of excess visceral fat tissue than body mass index (BMI). Progress towards making better use of this information has been slow, as is usually the case in the world of epidemiology. Visceral fat tissue generates chronic inflammation through a variety of mechanisms, from DNA debris activating the immune system to inappropriate signaling by fat cells to an accelerated pace of generation of senescent cells. Chronic inflammation disrupts function and accelerates the progression of all of the common age-related conditions. Peop...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
AbstractEstimates suggest that there are currently 122.8 million adults 65 –99 years of age living with diabetes, of whom 90–95% are diagnosed with type 2 diabetes (T2D). Over the past two decades, a greater understanding of the complex and multifactorial pathogenesis of T2D has resulted in the development and introduction of new-generation classes of glucose-lowering therapies, which are now extensively endorsed by prevailing guidelines and are increasingly being used worldwide. These newer agents may further assist in the effective pharmacological management of T2D through the provision of patient-center...
Source: Advances in Therapy - Category: Drugs & Pharmacology Source Type: research
Source: Neuropsychiatric Disease and Treatment - Category: Psychiatry Tags: Neuropsychiatric Disease and Treatment Source Type: research
Authors: Nikolac Perkovic M, Pivac N Abstract Alzheimer's disease is a complex and heterogeneous, severe neurodegenerative disorder and the predominant form of dementia, characterized by cognitive disturbances, behavioral and psychotic symptoms, progressive cognitive decline, disorientation, behavioral changes, and death. Genetic background of Alzheimer's disease differs between early-onset familial Alzheimer's disease, other cases of early-onset Alzheimer's disease, and late-onset Alzheimer's disease. Rare cases of early-onset familial Alzheimer's diseases are caused by high-penetrant mutations in genes coding for...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
This study complied with the Standards for Reporting Qualitative Research.ResultsThe two themes identified were “building a foundation for dementia care education” and “continuous support based on practical processes.”
Source: Nursing Open - Category: Nursing Authors: Tags: RESEARCH ARTICLE Source Type: research
ConclusionsInformation regarding training and accreditation processes for care home pharmacists is limited. This study provides insight into potential codified and practical knowledge requirements for pharmacists assuming responsibility for the provision of pharmaceutical care within care homes. Further work involving stakeholders is required to identify the cultural knowledge requirements and to develop a training and accreditation process.
Source: International Journal of Pharmacy Practice - Category: Drugs & Pharmacology Authors: Tags: Research Paper Source Type: research
Photo credit Tniklas Hamann Dear Carol: My 93-year-old mother lives in a nursing home and I visit her several times during the workweek, moreover the weekends. She seems as content as she is capable of being and she’s getting excellent care. My two siblings only visit Mom for the holidays. I understand this since they are each on different coasts and traveling is both time-consuming and expensive. What’s hard to handle is their pressure to have me take Mom into my home. They seem unable to grasp the idea that I can’t give her the care that she needs while I’m working, and we don’t have the mon...
Source: Minding Our Elders - Category: Geriatrics Authors: Source Type: blogs
DEMENTIA ’s early signs are often very subtle and vague, making it difficult to diagnose and therefore treat. Although the early signs of dementia vary, there are some common signs to look out for. What are the five signs you could have the disease?
Source: Daily Express - Health - Category: Consumer Health News Source Type: news
As we continue to live longer, we're seeing an increase in illnesses like dementia. All over the world, innovative ways to care for our aging loved ones are on the rise.
Source: - Health - Category: Consumer Health News Source Type: news
BOSTON (AP) – New guidance on concussions shows there isn’t enough solid evidence to answer some of parents’ most burning questions about contact sports. That includes what age is safest to start playing them. Pediatric experts in sports medicine, neurology and related fields evaluated and rated three decades of sports concussion-related research. They say recent evidence filled in some blanks. Such as: — Teen girls face higher risks than boys for concussions when playing the same sport by the same rules — Hockey body checking bans reduce concussions in players under 13 — Limiting contac...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health Syndicated CBSN Boston Youth Sports Source Type: news
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