Diffuse infiltrating tumour with the molecular profile of an atypical teratoid rhabdoid tumour (AT/RT SHH-1B) in an adult patient.

We describe a 46-year-old patient with an IDH-wildtype diffusely infiltrating atypical teratoid/rhabdoid tumour (AT/RT), SHH-1B molecular subtype. The unusual histology and subsequent diagnosis in an adult patient will be discussed.

The complex genetics of gait speed: genome-wide meta-analysis approach.

Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues. The meta-analysis resulted in a list of 536 suggestive genome wide significant SNPs in or near 69 genes. Further interrogation with Pathway Analysis placed gait speed as a polygenic complex trait in five major networks. Subsequent eQTL analysis revealed several SNPs significantly associated with the expression of PRSS16, WDSUB1 and PTPRT, which in addition to the meta-analysis and pathway suggested that genetic effects on gait speed may occur through synaptic function and neuronal development pathways. No genome-wide significant signals for gait speed were identified from this moderately large sample of older adults, suggesting that more refined physical function phenotypes will be needed to identify the genetic basis of gait speed in aging.

Prevalence, Clinical Management, and Natural Course of Incidental Findings on Brain MR Images: The Population-based Rotterdam Scan Study.

Purpose To present an updated prevalence estimate for incidental findings on brain magnetic resonance (MR) images and provide information on clinical relevance, including natural course, over a period of up to 9 years. Materials and Methods This study was approved by the institutional review board and all participants gave informed consent. In a prospective population-based setting, structural brain MR imaging was performed in 5800 participants (mean age, 64.9 years; 3194 women [55.1%]). Trained reviewers recorded abnormalities, which were subsequently evaluated by neuroradiologists. The prevalence with 95% confidence interval (CI) of incidental findings was determined, and clinical management of findings that required the attention of a medical specialist was followed. Follow-up imaging in the study context provided information on the natural course of findings that were not referred. Results In 549 of 5800 participants (9.5% [95% CI: 8.7%, 10.3%]), incidental findings were found, of which meningiomas (143 of 5800; 2.5% [95% CI: 2.1%, 2.9%]) and cerebral aneurysms (134 of 5800; 2.3% [95% CI: 2.0%, 2.7%]) were most common. A total of 188 participants were referred to medical specialists for incidental findings (3.2% [95% CI: 2.8%, 3.7%]). Of these, 144 (76.6% [95% CI: 70.1%, 82.1%]) either underwent a wait-and-see policy or were discharged after the initial clinical visit. The majority of meningiomas and virtually all aneurysms not referred or referred but untreated remained stable in size during follow-up. Conclusion Incidental findings at brain MR imaging that necessitate further diagnostic evaluation occur in over 3% of the general middle-aged and elderly population, but are mostly without direct clinical consequences. © RSNA, 2016.

The impact of restless legs syndrome on physical functioning in a community-dwelling population of middle-aged and elderly people.

OBJECTIVE: To investigate whether restless legs syndrome (RLS) is associated with impaired physical functioning using subjective and objective assessments. METHODS: From 2006-2013, 5,960 participants (mean age 67.2; 57.5% females) of the prospective population-based Rotterdam Study, aged 45 years and over, were cross-sectionally investigated for presence of restless legs syndrome using a questionnaire. Physical functioning was assessed subjectively with the Stanford Health Assessment Questionnaire (basic activities of daily living) and the Instrumental Activities of Daily living scale (instrumental activities of daily living). Additionally, physical functioning was assessed objectively by quantifying fine motor performance with the Purdue Pegboard Test and by quantifying gait with an electronic walkway. RESULTS: Restless legs syndrome was present in 13.7% of the participants. Persons with restless legs had more impairment in basic (difference in score 0.65, 95% CI 0.41;0.90) and instrumental activities of daily living (difference in score 0.28, 95% CI 0.09;0.48) than persons without restless legs. This association was strongest when symptoms were present two or more times a week (basic activities of daily living score difference 1.69, 95% CI 1.28;2.09). The association between restless legs syndrome and activities of daily living attenuated after adjusting for sleep quality or depressive symptoms. There was no association with the Purdue Pegboard Test score nor with gait. CONCLUSIONS: Individuals with restless legs syndrome experienced significantly more impairment in activities of daily function than persons without restless legs. This seemed to be (partly) mediated by poor sleep quality and depressive symptoms. No association was found with objectively assessed physical functioning.