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Stanley Hall was a brilliant, eccentric, strong-willed, intellectual giant in his time B R A I N R E S E A R C H R E V I E W S 5 5 ( 2 0 0 7 ) 4 6 3 -4 8 0 Cajal (1989) states that Kölliker ... Mosso (C), and È. Picard (D). (From Story and Wilson, 1899, with permission.) ...doi:10.1016/j.brainresrev.2007.02.002 pmid:17408560 fatcat:x6h4xfac2fa27f4xr4zlqk5rni
Duane E. Haines Secretary-President, AAA Chairman Editorial Advisory Board 1998 Wiley-Liss, Inc. ...doi:10.1002/(sici)1097-0185(199808)253:4<102::aid-ar4>3.0.co;2-v pmid:9740032 fatcat:fj5yanraxrfidd4o5lhmy5c2zm
Multiple sclerosis: Vitamin-D3 (5000IU) and Vitamin-e (500 mg). anemia: Vitamin-B12 (1000 mcg). ... (D) eDs-related unilateral periventricular heterotopia (pH, red arrow), which supports the patient's dyslexia diagnosis. 7 (E) Red arrow, MS lesions along body and splenum of corpus callosum. ...doi:10.2147/ndt.s169292 pmid:30323603 pmcid:PMC6175567 fatcat:z762htrudffrvlernlwzn2gn7m
cerebellum: this paper, entitled Sulla fina anatomia del cervelletto umano ("On the fine anatomy of the human cerebellum") was first read, on 8 January 1874, at a session of the Istituto Lombardo di Scienze e ...doi:10.1007/s12311-012-0372-8 pmid:22392072 fatcat:hxeul5umzrfzfgtukfv5dzwlgi
We report the case of a male multiple sclerosis (MS) patient with type 2 diabetes (T2D), asthma, major depression (MD or major depressive disorder, MDD), and other chronic conditions, after his recent difficulties with craniopharyngioma and cranial nerve-VI (CN6) palsy. In addition, we show magnetic resonance image and spectroscopy (MRI, MRS), Humphrey's Visual Field (HVF), and retinal nerve fiber layer thickness (RNFLT) findings to explain the changes in the patient's health, and discuss thedoi:10.3390/brainsci9100281 pmid:31627490 pmcid:PMC6826476 fatcat:fximy5jfl5gvteryhbzxlywsb4
more »... , and discuss the methods that helped/help him sustain productivity and euthymia despite long-standing problems and new CNS changes.
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study (GWAS) of late-onset Alzheimer disease (LOAD) using a 3 stage design consisting of a discovery stage (Stage 1) and two replication stages (Stages 2 and 3) . Both joint and meta-analysis Users may view, print, copy, download and text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:doi:10.1038/ng.801 pmid:21460841 pmcid:PMC3090745 fatcat:h7gdlvsgl5a5dgqng55uhj5ciu
OBJECTIVE To determine the frequency of the APP A673T variant in a large group of elderly cognitively normal controls and AD cases from the United States and in 2 case-control cohorts from Sweden. DESIGN, SETTING, AND PARTICIPANTS Case-control association analysis of variant APP A673T in US and Swedish white individuals comparing AD cases with cognitively intact elderly controls. Participants were ascertained at multiple university-associated medical centers and clinics across the United Statesdoi:10.1001/jamaneurol.2014.2157 pmid:25531812 pmcid:PMC4324097 fatcat:4g2hjuqmrzdphfkc2qrzzmnk7m
more »... s the United States and Sweden by study-specific sampling methods. They were from case-control studies, community-based prospective cohort studies, and studies that ascertained multiplex families from multiple sources. MAIN OUTCOMES AND MEASURES Genotypes for the APP A673T variant were determined using the Infinium HumanExome V1 Beadchip (Illumina, Inc) and by TaqMan genotyping (Life Technologies). RESULTS The A673T variant genotypes were evaluated in 8943 US AD cases, 10 480 US cognitively normal controls, 862 Swedish AD cases, and 707 Swedish cognitively normal controls. We identified 3 US individuals heterozygous for A673T, including 1 AD case (age at onset, 89 years) and 2 controls (age at last examination, 82 and 77 years). The remaining US samples were homozygous for the alanine (A673) allele. In the Swedish samples, 3 controls were heterozygous for A673T and all AD cases were homozygous for the A673 allele. We also genotyped a US family previously reported to harbor the A673T variant and found a mother-daughter pair, both cognitively normal at ages 72 and 84 years, respectively, who were both heterozygous for A673T; however, all individuals with AD in the family were homozygous for A673. were present on both the exome array and in the HapMap 3 data set. Forty-nine individuals were likely to be from nonwhite or admixed populations. Two hundred seventy-three individuals were excluded owing to incomplete diagnosis information. In all, 14 355 individuals (8221 cases and 6134 controls) passed quality check. Five hundred eighty-five individuals were younger than 60 years at onset (512 AD cases) or at last visit (34 controls); 61 samples lacked age information. Genotypes for rs63750847 (A673T; c.G2017>A) were ascertained via the exm1563596 marker (major/minor allele: G/A, 100% call rate after quality check). One sample with the A/A genotype was excluded owing to a very high missing call rate (20.84%). Two samples passing quality check carried the A/G genotype.
Because APOE locus variants contribute to risk of late-onset Alzheimer disease (LOAD) and to differences in age at onset (AAO), it is important to know whether other established LOAD risk loci also affect AAO in affected participants. To investigate the effects of known Alzheimer disease risk loci in modifying AAO and to estimate their cumulative effect on AAO variation using data from genome-wide association studies in the Alzheimer Disease Genetics Consortium. The Alzheimer Disease Geneticsdoi:10.1001/jamaneurol.2014.1491 pmid:25199842 pmcid:PMC4314944 fatcat:lw5tp2zwmrcp5bj2azoafe3pny
more »... Disease Genetics Consortium comprises 14 case-control, prospective, and family-based data sets with data on 9162 participants of white race/ethnicity with Alzheimer disease occurring after age 60 years who also had complete AAO information, gathered between 1989 and 2011 at multiple sites by participating studies. Data on genotyped or imputed single-nucleotide polymorphisms most significantly associated with risk at 10 confirmed LOAD loci were examined in linear modeling of AAO, and individual data set results were combined using a random-effects, inverse variance-weighted meta-analysis approach to determine whether they contribute to variation in AAO. Aggregate effects of all risk loci on AAO were examined in a burden analysis using genotype scores weighted by risk effect sizes. Age at disease onset abstracted from medical records among participants with LOAD diagnosed per standard criteria. Analysis confirmed the association of APOE with earlier AAO (P = 3.3 × 10(-96)), with associations in CR1 (rs6701713, P = 7.2 × 10(-4)), BIN1 (rs7561528, P = 4.8 × 10(-4)), and PICALM (rs561655, P = 2.2 × 10(-3)) reaching statistical significance (P < .005). Risk alleles individually reduced AAO by 3 to 6 months. Burden analyses demonstrated that APOE contributes to 3.7% of the variation in AAO (R(2) = 0.256) over baseline (R(2) = 0.221), whereas the other 9 loci together contribute to 2.2% of the variation (R(2) = 0.242). We confirmed an association of APOE (OMIM 107741) variants with AAO among affected participants with LOAD and observed novel associations of CR1 (OMIM 120620), BIN1 (OMIM 601248), and PICALM (OMIM 603025) with AAO. In contrast to earlier hypothetical modeling, we show that the combined effects of Alzheimer disease risk variants on AAO are on the scale of, but do not exceed, the APOE effect. While the aggregate effects of risk loci on AAO may be significant, additional genetic contributions to AAO are individually likely to be small.
Finally, we removed any individuals missing data for any of the 21 known Alzheimer's disease GWAS SNPs (Table 1, Supplementary Tables 1 and 2) or Apolipoprotein E (APOE). ...doi:10.1016/j.neurobiolaging.2016.02.024 pmid:27036079 pmcid:PMC4948179 fatcat:bkiatuakxjhtppmgtu6yvjivku
E. et al. WWOX gene is associated with HDL cholesterol and triglyceride levels. BMC. Med. Genet. 11, 148 (2010). 96. Chang, H. T. et al. ... Morawski, M., Filippov, M., Tzinia, A., Tsilibary, E. & Vargova, L. ECM in brain aging and dementia. Prog. Brain. Res. 214, 207-227 (2014). 90. Wilcock, D. M. ...doi:10.1038/s41588-019-0358-2 pmid:30820047 pmcid:PMC6463297 fatcat:at2hve7fwjhbrnch53rtt4jukm
BN supported by FondazioneCassa di Risparmio di Pistoia e Pescia (grants 2014.0365, 2011.0264 and 2013.0347). ... Research Program, Ricerca Corrente 2015-2017, Linea n. 2 "Malattiecomplesse e terapie innovative" and by the "5 x 1000" voluntary contribution. ...doi:10.1038/ng.3916 pmid:28714976 pmcid:PMC5669039 fatcat:y5tjeinukvbolnepxfvjtfdtcu
Surgical site infection (SSI) is one of the most common infections associated with health care, but its importance as a global health priority is not fully understood. We quantified the burden of SSI after gastrointestinal surgery in countries in all parts of the world. Methods This international, prospective, multicentre cohort study included consecutive patients undergoing elective or emergency gastrointestinal resection within 2-week time periods at any health-care facility in any country.doi:10.1016/s1473-3099(18)30101-4 pmid:29452941 pmcid:PMC5910057 fatcat:pprokozopvf5jbt2esr66s52oy