Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003864 (arthritis)
 69,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patient A, 58 years, is referred by the Rheumatologist to the Geriatrician concerning apathy. History reviews skipping arthritis, reddened and inflamed eyes, apathy and loss of interest. Physical examination revealed red tearing eyes, bradyphrenia and bradykinesia. Laboratory examination showed inflammation markers. The patient develops fever and bilateral reddened and inflamed ears. Diagnosis of relapsing polychondritis is made, the patient is treated with prednisone and the symptoms disappear. Relapsing polychondritis is a chronical disease associated with inflammation and destruction of cartilaginous structures and proteoglycan rich structures. We diagnosed Relapsing Polychondritis with a reversible dementia, probably due to cerebral vasculitis.
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PMID:[Reversible cognitive decline in a patient with relapsing polychondritis]. 2114 Sep 56

The incidence of neurocognitive disorders, which may impair the ability of older adults to perform activities of daily living (ADLs), rises with age. Depressive symptoms are also common in older adults and may affect ADLs. Safe storage and utilization of firearms are complex ADLs, which require intact judgment, executive function, and visuospatial ability, and may be affected by cognitive impairment. Depression or cognitive impairment may cause paranoia, delusions, disinhibition, apathy, or aggression and thereby limit the ability to safely utilize firearms. These problems may be superimposed upon impaired mobility, arthritis, visual impairment, or poor balance. Inadequate attention to personal protection may also cause hearing impairment and accidents. In this article, we review the data on prevalence of firearms access among older adults; safety concerns due to age-related conditions; barriers to addressing this problem; indications prompting screening for firearms access; and resources available to patients, caregivers, and health care providers.
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PMID:Firearms in Frail Hands: An ADL or A Public Health Crisis! 2510 33

SCA 17 is a rare, autosomal dominant disorder caused by TBP gene CAG/CAA repeat expansion. Ataxia and dementia are common. The presence of frontal dysfunction at outset of the disease may mimic frontotemporal dementia (FTD). Parkinsonism, chorea, dystonia, and pyramidal signs may occur. We report an Irish family with autosomal dominant partially penetrant frontal dementia with cerebellar atrophy due to SCA17 and present detailed neuropsychological assessment for the first time. A 44-year-old doctor presented with 18-month history of behavioral problems. She slowed down, became apathetic, and unable to multitask. She became more irritable and short tempered, and her work performance deteriorated. Brain MRI showed cerebellar atrophy and cerebellar hypometabolism was noted on FDG-PET. A sister developed personality changes at age 45 with apathy, and had problems with memory and social skills; another sister at age 39 became dysarthric and unsteady. A brother at age 52 demonstrated emotional lability, and became dysarthric, unsteady, and slowed down. Their mother aged 73 had an abnormal antalgic gait due to arthritis; their father was jocular and disinhibited. MAPT testing detected an exon 9 c.726C>T variant in the proband. Subsequent testing in nine siblings and both parents failed to show co-segregation with disease. SCA17 testing revealed a TBP gene 43 repeat expansion that co-segregated in all affected siblings and in the mother whose gait problems were initially attributed to arthritis. In over 80% of cases of FTD with clear autosomal dominant inheritance, causative gene defects involve MAPT, GRN, or C9orf72 mutations. A minority involves VCP, FUS, and CHMP2B. As evident from our case, SCA17 testing should also be considered, especially if cerebellar atrophy if found on imaging. Segregation analysis is crucial. MAPT variant (c.726C>T exon 9) detected in the family was deemed a polymorphism.
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PMID:Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17. 3061 27