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[PMID]: 27179224
[Au] Autor:Nowicka E; Bobek-Billewicz B; Szymas J; Tarnawski R
[Ad] Address:Elzbieta Nowicka, 3rd Radiotherapy and Chemotherapy Department, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, 16 Wybrzeze Armii Krajowej St., 44-100 Gliwice, Poland, e-mail: enowicka@io.gliwice.pl.
[Ti] Title:Late dissemination via cerebrospinal fluid of papillary tumor of the pineal region: a case report and literature review.
[So] Source:Folia Neuropathol;54(1):72-9, 2016.
[Is] ISSN:1509-572X
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:Papillary tumor of the pineal region (PTPR) represents a recently described entity and was included in the 2007 World Health Organization (WHO) classification of central nervous system tumors. The biological and clinical behavior of PTPR is variable and may correspond to WHO grades II or III. Papillary tumor of the pineal region can show aggressive biological behavior with local relapses and dissemination via the cerebrospinal fluid. Several cases of PTPR with leptomeningeal seeding and multiple lesions or spinal metastasis have been reported. We present an unusual clinical history of papillary tumor of the pineal region with ventricular and spinal dissemination five years after primary surgical treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Js] Journal subset:IM
[St] Status:In-Data-Review

  2 / 803460 MEDLINE  
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[PMID]: 27179222
[Au] Autor:Mierzewska H; Jamroz E; Mazurczak T; Hoffman-Zacharska D; Szczepanik E
[Ad] Address:Hanna Mierzewska, MD, PhD, Clinic of Child and Adolescence Neurology, Institute of Mother and Child, 17A Kasprzaka St., 01-211 Warsaw, Poland, e-mail: h.mierzewska@gmail.com.
[Ti] Title:Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
[So] Source:Folia Neuropathol;54(1):59-65, 2016.
[Is] ISSN:1509-572X
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed. Different mutations of the PLP1 gene were detected in 14 boys from 11 families (~20%). Amongst the molecularly confirmed patients, 13 presented classical PMD forms but clinical phenotypes varied in the severity even amongst siblings. One patient presented a severe connatal form. One mother, obligate carrier, presented complicated SPG2 (spastic paraparesis). There was no phenotype-genotype correlation in our material. In many cases PMD was suspected with a delay of many years, sometimes only after birth of another affected child in the family. Pelizaeus-Merzbacher disease was most frequently misdiagnosed as cerebral palsy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Js] Journal subset:IM
[St] Status:In-Data-Review

  3 / 803460 MEDLINE  
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[PMID]: 27179216
[Au] Autor:Madej-Pilarczyk A; Kochanski A
[Ad] Address:Dr Agnieszka Madej-Pilarczyk, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawinskiego St., 02-106 Warsaw, Poland, phone: +48 22 608 66 01, fax: +48 22 608 65 31, e-mail: agamadpil@gmail.com.
[Ti] Title:Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
[So] Source:Folia Neuropathol;54(1):1-8, 2016.
[Is] ISSN:1509-572X
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so far, of which five have been associated with mutations in genes encoding nuclear proteins. The majority of the EDMD cases described so far are of the emerinopathy (EDMD1) kind, with a recessive X-linked mode of inheritance, or else laminopathy (EDMD2), with an autosomal dominant mode of inheritance. In the work described here, the authors have sought to describe the history by which EDMD came to be distinguished as a separate entity, as well as the clinical and genetic characteristics of the disease, the pathophysiology of lamin-related muscular diseases and, finally, therapeutic issues, prevention and ethical aspects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Js] Journal subset:IM
[St] Status:In-Data-Review

  4 / 803460 MEDLINE  
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[PMID]: 26443688
[Au] Autor:Koh WP; Dan YY; Goh GB; Jin A; Wang R; Yuan JM
[Ad] Address:Duke-NUS Graduate Medical School, National University of Singapore, Singapore City, Singapore....
[Ti] Title:Dietary fatty acids and risk of hepatocellular carcinoma in the Singapore Chinese health study.
[So] Source:Liver Int;36(6):893-901, 2016 Jun.
[Is] ISSN:1478-3231
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND & AIM: Lipidomic signature of lipid metabolism suggests that omega-6 polyunsaturated fatty acids (PUFA) may play a role in oncogenesis of hepatocellular carcinoma (HCC). Hence, we examined the association between dietary fatty acids and risk of HCC. METHODS: We used data from the Singapore Chinese Health Study, a population-based prospective cohort of 63 257 Chinese men and women aged 45-74 years enrolled between 1993 and 1998. Information on current diet assessed via a validated semi-quantitative food frequency questionnaire, medical history and lifestyle factors were obtained through in-person interview, and incidence of HCC recorded through 31 Dec 2010. We also examined the association between dietary fatty acids and HCC risk using a case-control set of 92 cases and 274 controls with available serological biomarkers of chronic infections with hepatitis B virus (HBV) and hepatitis C virus (HCV) nested within this cohort. RESULTS: Among the dietary fat components examined, which included saturated, monounsaturated, omega-3 and omega-6 PUFA, only omega-6 PUFA intake displayed a dose-dependent, positive association with HCC risk (p for trend = 0.02). Compared to the lowest quartile, the hazard ratio for the highest quartile intake was 1.49 [(95% confidence interval (CI):1.08-2.07)]. In the nested case-control study, only among individuals negative for serology markers of chronic infection with HBV or HCV, those who consumed above median levels of dietary omega-6 PUFA had increased HCC risk (odds ratio = 4.36, 95% CI = 1.59-11.94) compared to those with lower intake. CONCLUSION: Dietary omega-6 PUFA may be implicated in the risk of non-viral hepatitis related HCC.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1111/liv.12978

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[PMID]: 26746186
[Au] Autor:Müller HP; Turner MR; Grosskreutz J; Abrahams S; Bede P; Govind V; Prudlo J; Ludolph AC; Filippi M; Kassubek J; Neuroimaging Society in ALS (NiSALS) DTI Study Group
[Ad] Address:Department of Neurology, University of Ulm, Ulm, Germany....
[Ti] Title:A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis.
[So] Source:J Neurol Neurosurg Psychiatry;87(6):570-9, 2016 Jun.
[Is] ISSN:1468-330X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Damage to the cerebral tissue structural connectivity associated with amyotrophic lateral sclerosis (ALS), which extends beyond the motor pathways, can be visualised by diffusion tensor imaging (DTI). The effective translation of DTI metrics as biomarker requires its application across multiple MRI scanners and patient cohorts. A multicentre study was undertaken to assess structural connectivity in ALS within a large sample size. METHODS: 442 DTI data sets from patients with ALS (N=253) and controls (N=189) were collected for this retrospective study, from eight international ALS-specialist clinic sites. Equipment and DTI protocols varied across the centres. Fractional anisotropy (FA) maps of the control participants were used to establish correction matrices to pool data, and correction algorithms were applied to the FA maps of the control and ALS patient groups. RESULTS: Analysis of data pooled from all centres, using whole-brain-based statistical analysis of FA maps, confirmed the most significant alterations in the corticospinal tracts, and captured additional significant white matter tract changes in the frontal lobe, brainstem and hippocampal regions of the ALS group that coincided with postmortem neuropathological stages. Stratification of the ALS group for disease severity (ALS functional rating scale) confirmed these findings. INTERPRETATION: This large-scale study overcomes the challenges associated with processing and analysis of multiplatform, multicentre DTI data, and effectively demonstrates the anatomical fingerprint patterns of changes in a DTI metric that reflect distinct ALS disease stages. This success paves the way for the use of DTI-based metrics as read-out in natural history, prognostic stratification and multisite disease-modifying studies in ALS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1136/jnnp-2015-311952

  6 / 803460 MEDLINE  
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[PMID]: 26243339
[Au] Autor:Carr AS; Pelayo-Negro AL; Evans MR; Laurà M; Blake J; Stancanelli C; Iodice V; Wechalekar AD; Whelan CJ; Gillmore JD; Hawkins PN; Reilly MM
[Ad] Address:MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK....
[Ti] Title:A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
[So] Source:J Neurol Neurosurg Psychiatry;87(6):620-7, 2016 Jun.
[Is] ISSN:1468-330X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Hereditary transthyretin amyloidosis (ATTR) is usually characterised by a progressive peripheral and autonomic neuropathy often with associated cardiac failure and is due to dominantly inherited transthyretin mutations causing accelerated amyloid deposition. The UK population is unique in that the majority of patients have the T60A missense mutation in ATTR where tyrosine is replaced by adenine at position 60. This has been traced to a single founder mutation from north-west Ireland. The neuropathy phenotype is less well described than the cardiac manifestations in this group. METHODS: We present the findings from an observational cohort study of patients with ATTR attending the National Hospital Inherited Neuropathy Clinic between 2009 and 2013. Detailed clinical neurological and electrophysiological data were collected on all patients alongside correlating autonomic and cardiac assessments. Follow-up data were available on a subset. RESULTS: Forty-four patients with genetically confirmed ATTR were assessed; 37 were symptomatic; mean age at onset=62 years, range=38-75 years; 75.7% male. T60A was the most common mutation (17/37), followed by V30M (5/37). A severe, rapidly progressive, predominantly length dependent axonal sensorimotor neuropathy was the predominant phenotype. T60A patients were distinguished by earlier and more frequent association with carpal tunnel syndrome; a predominance of negative sensory symptoms at onset; significant vibration deficits; and a non-length dependent progression of motor deficit. Progression of the neuropathy was observed over a relatively short follow-up period (2 years) in 20 patients with evidence of clinically measurable annual change in Medical Research Council (MRC) sum score (-1.5 points per year) and Charcot Marie Tooth Neuropathy Score (CMTNS:2.7 points per year), and a congruent trend in the electrophysiological measures used. CONCLUSION: The description of the ATTR neuropathy phenotype, especially in the T60A patients, should aid early diagnosis as well as contribute to the understanding of its natural history.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1136/jnnp-2015-310907

  7 / 803460 MEDLINE  
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[PMID]: 26881839
[Au] Autor:Kapun M; Schmidt C; Durmaz E; Schmidt PS; Flatt T
[Ad] Address:Department of Ecology and Evolution, University of Lausanne, Lausanne, Switzerland....
[Ti] Title:Parallel effects of the inversion In(3R)Payne on body size across the North American and Australian clines in Drosophila melanogaster.
[So] Source:J Evol Biol;29(5):1059-72, 2016 May.
[Is] ISSN:1420-9101
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Chromosomal inversions are thought to play a major role in climatic adaptation. In D. melanogaster, the cosmopolitan inversion In(3R)Payne exhibits latitudinal clines on multiple continents. As many fitness traits show similar clines, it is tempting to hypothesize that In(3R)P underlies observed clinal patterns for some of these traits. In support of this idea, previous work in Australian populations has demonstrated that In(3R)P affects body size but not development time or cold resistance. However, similar data from other clines of this inversion are largely lacking; finding parallel effects of In(3R)P across multiple clines would considerably strengthen the case for clinal selection. Here, we have analysed the phenotypic effects of In(3R)P in populations originating from the endpoints of the latitudinal cline along the North American east coast. We measured development time, egg-to-adult survival, several size-related traits (femur and tibia length, wing area and shape), chill coma recovery, oxidative stress resistance and triglyceride content in homokaryon lines carrying In(3R)P or the standard arrangement. Our central finding is that the effects of In(3R)P along the North American cline match those observed in Australia: standard arrangement lines were larger than inverted lines, but the inversion did not influence development time or cold resistance. Similarly, In(3R)P did not affect egg-to-adult survival, oxidative stress resistance and lipid content. In(3R)P thus seems to specifically affect size traits in populations from both continents. This parallelism strongly suggests an adaptive pattern, whereby the inversion has captured alleles associated with growth regulation and clinal selection acts on size across both continents.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1111/jeb.12847

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[PMID]: 26967211
[Au] Autor:Jefferson AL; Gifford KA; Acosta LM; Bell SP; Donahue MJ; Davis LT; Gottlieb J; Gupta DK; Hohman TJ; Lane EM; Libon DJ; Mendes LA; Niswender K; Pechman KR; Rane S; Ruberg FL; Su YR; Zetterberg H; Liu D
[Ad] Address:Vanderbilt Memory & Alzheimer's Center, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA....
[Ti] Title:The Vanderbilt Memory & Aging Project: Study Design and Baseline Cohort Overview.
[So] Source:J Alzheimers Dis;52(2):539-59, 2016 Mar 8.
[Is] ISSN:1875-8908
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Vascular health factors frequently co-occur with Alzheimer's disease (AD). A better understanding of how systemic vascular and cerebrovascular health intersects with clinical and pathological AD may inform prevention and treatment opportunities. OBJECTIVE: To establish the Vanderbilt Memory & Aging Project, a case-control longitudinal study investigating vascular health and brain aging, and describe baseline methodology and participant characteristics. METHODS: From September 2012 to November 2014, 335 participants age 60- 92 were enrolled, including 168 individuals with mild cognitive impairment (MCI, 73±8 years, 41% female) and 167 age-, sex-, and race-matched cognitively normal controls (NC, 72±7 years, 41% female). At baseline, participants completed a physical and frailty examination, fasting blood draw, neuropsychological assessment, echocardiogram, cardiac MRI, and brain MRI. A subset underwent 24-hour ambulatory blood pressure monitoring and lumbar puncture for cerebrospinal fluid (CSF) collection. RESULTS: As designed, participant groups were comparable for age (p = 0.31), sex (p = 0.95), and race (p = 0.65). MCI participants had greater Framingham Stroke Risk Profile scores (p = 0.008), systolic blood pressure values (p = 0.008), and history of left ventricular hypertrophy (p = 0.04) than NC participants. As expected, MCI participants performed worse on all neuropsychological measures (p-values < 0.001), were more likely to be APOEÉ›4 carriers (p = 0.02), and had enhanced CSF biomarkers, including lower Aß42 (p = 0.02), higher total tau (p = 0.004), and higher p-tau (p = 0.02) compared to NC participants. CONCLUSION: Diverse sources of baseline and longitudinal data will provide rich opportunities to investigate pathways linking vascular and cerebrovascular health, clinical and pathological AD, and neurodegeneration contributing to novel strategies to delay or prevent cognitive decline.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.3233/JAD-150914

  9 / 803460 MEDLINE  
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[PMID]: 26854119
[Au] Autor:Doris MK; Newby DE
[Ad] Address:a Centre for Cardiovascular Science, University of Edinburgh , Edinburgh , Scotland , UK.
[Ti] Title:Identification of early vascular calcification with (18)F-sodium fluoride: potential clinical application.
[So] Source:Expert Rev Cardiovasc Ther;14(6):691-701, 2016 Jun.
[Is] ISSN:1744-8344
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Vascular calcification plays a prominent role in cardiovascular disease. Once considered to be a passive consequence of aging, this pathological process is now accepted to be dynamic and tightly regulated, its onset triggered by inflammation and necrosis and its progression bearing key similarities to osteogenesis. A major potential advance in our ability to understand the natural history and clinical implications of vascular calcification is the detection of its early and dynamic stages through the use of the positron-emitting radiotracer, (18)F-sodium fluoride. Alongside anatomical information gained from computed tomography, hybrid positron emission and computed tomography (PET/CT) imaging with (18)F-sodium fluoride has, for the first time, enabled the non-invasive detection of microcalcification within the aortic valve, great vessels, and vulnerable coronary plaque. This has raised promise that exploring this process may allow improved risk prediction, better application of current therapies and ultimately the development of novel treatments to target this widespread pathology.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1586/14779072.2016.1151354

  10 / 803460 MEDLINE  
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[PMID]: 26703089
[Au] Autor:Fast CD; Flesher MM; Nocera NA; Fanselow MS; Blaisdell AP
[Ad] Address:Department of Psychology, University of California, Los Angeles, Los Angeles, California....
[Ti] Title:Learning history and cholinergic modulation in the dorsal hippocampus are necessary for rats to infer the status of a hidden event.
[So] Source:Hippocampus;26(6):804-15, 2016 Jun.
[Is] ISSN:1098-1063
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Identifying statistical patterns between environmental stimuli enables organisms to respond adaptively when cues are later observed. However, stimuli are often obscured from detection, necessitating behavior under conditions of ambiguity. Considerable evidence indicates decisions under ambiguity rely on inference processes that draw on past experiences to generate predictions under novel conditions. Despite the high demand for this process and the observation that it deteriorates disproportionately with age, the underlying mechanisms remain unknown. We developed a rodent model of decision-making during ambiguity to examine features of experience that contribute to inference. Rats learned either a simple (positive patterning) or complex (negative patterning) instrumental discrimination between the illumination of one or two lights. During test, only one light was lit while the other relevant light was blocked from physical detection (covered by an opaque shield, rendering its status ambiguous). We found experience with the complex negative patterning discrimination was necessary for rats to behave sensitively to the ambiguous test situation. These rats behaved as if they inferred the presence of the hidden light, responding differently than when the light was explicitly absent (uncovered and unlit). Differential expression profiles of the immediate early gene cFos indicated hippocampal involvement in the inference process while localized microinfusions of the muscarinic antagonist, scopolamine, into the dorsal hippocampus caused rats to behave as if only one light was present. That is, blocking cholinergic modulation prevented the rat from inferring the presence of the hidden light. Collectively, these results suggest cholinergic modulation mediates recruitment of hippocampal processes related to past experiences and transfer of these processes to make decisions during ambiguous situations. Our results correspond with correlations observed between human brain function and inference abilities, suggesting our experiments may inform interventions to alleviate or prevent cognitive dysfunction. © 2015 Wiley Periodicals, Inc.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1605
[Cu] Class update date: 160514
[Lr] Last revision date:160514
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1002/hipo.22564


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