Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nasu-Hakola disease (NHD, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile dementia associated with sclerosing encephalopathy. The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan; in Italy there are anecdotal reports. The combination of neuropsychiatric symptoms and bone cysts is unique to this disease, which we believe to be underestimated in Italy. The molecular defect has been identified in loss-of-function mutations in the TYROBP gene in Finnish and in Japanese patients, and in the TREM2 gene in other families of different ethnic origins. We reviewed the international literature to define better the diagnostic steps and to draw the attention of neurologists and orthopaedic specialists to the disease. The identification of new cases followed by appropriate genetic counselling, genetic analysis, and study of the territorial distribution of affected patients could be a good strategy to follow in order to improve understanding of the disease.
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PMID:Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature. 1559 11

Traumatic brain injury (TBI) is an unfortunately common event in military life. The conflicts in Iraq and Afghanistan have increased public awareness of TBI in the military. Certain injury mechanisms are relatively unique to the military, the most prominent being blast exposure. Blast-related mild TBI (mTBI) has been of particular concern in the most recent veterans although controversy remains concerning separation of the postconcussion syndrome associated with mTBI from post-traumatic stress disorder. TBI is also a risk factor for the development of neurodegenerative diseases including chronic traumatic encephalopathy (CTE) and Alzheimer's disease (AD). AD, TBI, and CTE are all associated with chronic inflammation. Genome wide association studies (GWAS) have identified multiple genetic loci associated with AD that implicate inflammation and - in particular microglia - as key modulators of the AD- and TBI-related degenerative processes. At the molecular level, recent studies have identified TREM2 and TYROBP/DAP12 as components of a key molecular hub linking inflammation and microglia to the pathophysiology of AD and possibly TBI. Evidence concerning the relationship of TBI to chronic mental health problems and dementia is reviewed in the context of its relevance to military veterans.
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PMID:Relationship of traumatic brain injury to chronic mental health problems and dementia in military veterans. 3114 16