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https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#1
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28229293/age-related-hearing-loss-and-dementia-a-10-year-national-population-based-study
#2
Peijen Su, Chih-Chao Hsu, Hung-Ching Lin, Wei-Shin Huang, Tsung-Lin Yang, Wei-Ting Hsu, Cheng-Li Lin, Chung-Yi Hsu, Kuang-Hsi Chang, Yi-Chao Hsu
Age-related hearing loss (ARHL) is postulated to affect dementia. Our study aims to investigate the relationship between ARHL and the prevalence, and 10-year incidence of dementia in the Taiwan National Health Insurance Research Database (NHIRD). We selected patients diagnosed with ARHL from the NHIRD. A comparison cohort comprising of patients without ARHL was frequency-matched by age, sex, and co-morbidities, and the occurrence of dementia was evaluated in both cohorts. The ARHL cohort consisted of 4108 patients with ARHL and the control cohort consisted of 4013 frequency-matched patients without ARHL...
February 22, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28229125/the-clinical-neuroanatomical-and-neuropathologic-phenotype-of-tbk1-associated-frontotemporal-dementia-a-longitudinal-case-report
#3
Carolin A M Koriath, Martina Bocchetta, Emilie Brotherhood, Ione O C Woollacott, Penny Norsworthy, Javier Simón-Sánchez, Cornelis Blauwendraat, Katrina M Dick, Elizabeth Gordon, Sophie R Harding, Nick C Fox, Sebastian Crutch, Jason D Warren, Tamas Revesz, Tammaryn Lashley, Simon Mead, Jonathan D Rohrer
INTRODUCTION: Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear. METHODS: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28228177/psychiatric-diagnoses-in-older-people-with-intellectual-disability-in-comparison-with-the-general-population-a-register-study
#4
A Axmon, P Björne, L Nylander, G Ahlström
AIMS: To describe the occurrence of psychiatric diagnoses in a specialist care setting in older people with intellectual disability (ID) in relation to those found in the same age group in the general population. METHOD: A cohort of people with ID (n = 7936), aged 55 years or more in 2012, was identified, as was an age and sex-matched cohort from the general population (n = 7936). Information regarding psychiatric diagnoses during 2002-2012 was collected from the National Patient Register, which contains records from all inpatient care episodes and outpatient specialist visits in Sweden...
February 23, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28227768/measures-of-the-brain-functional-network-that-correlate-with-alzheimer-s-neuropsychological-test-scores-an-fmri-and-graph-analysis-study
#5
Soroosh Golbabaei, Amin Dadashi, Hamid Soltanian-Zadeh, Soroosh Golbabaei, Amin Dadashi, Hamid Soltanian-Zadeh, Soroosh Golbabaei, Amin Dadashi, Hamid Soltanian-Zadeh
Neural degeneration in Alzheimer's disease (AD) leads to structural topology deformation that in turn changes brain functionality. The main aim of the present study is to find the brain's functional connectivity network (FCN) correlates of Alzheimer's psychological test scores. To this end, the brain's FCN is extracted from the resting state functional magnetic resonance images (rs-fMRI) of healthy controls and patients with AD and represented as a graph. Then, network measures are calculated from the graphs...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226665/changes-in-the-eeg-amplitude-as-a-biomarker-for-early-detection-of-alzheimer-s-disease
#6
Ali H Al-Nuaimi, Emmanuel Jammeh, Lingfen Sun, Emmanuel Ifeachor, Ali H Al-Nuaimi, Emmanuel Jammeh, Lingfen Sun, Emmanuel Ifeachor, Emmanuel Jammeh, Lingfen Sun, Ali H Al-Nuaimi, Emmanuel Ifeachor
The rapid increase in the number of older people with Alzheimer's disease (AD) and other forms of dementia represents one of the major challenges to the health and social care systems. Early detection of AD makes it possible for patients to access appropriate services and to benefit from new treatments and therapies, as and when they become available. The onset of AD starts many years before the clinical symptoms become clear. A biomarker that can measure the brain changes in this period would be useful for early diagnosis of AD...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226007/hospitalization-and-hospital-mortality-of-elderly-people-with-mental-and-behavioral-disorders-in-brazil-2008-2014
#7
Vanessa Cruz Santos, Karla Ferraz Dos Anjos, Rita Narriman Silva de Oliveira Boery, Ramon Missias Moreira, Diego Pires Cruz, Eduardo Nagib Boery
OBJECTIVE: to analyze the evolution of hospitalizations and hospital mortality of elderly people with mental and behavioral disorders in Brazil, from 2008 to 2014. METHODS: this is a time series ecological study, with data from the Hospital Information System of the Brazilian National Health System (SIH/SUS), and analyzed through Prais-Winsten regression. RESULTS: during the studied period, 139,941 hospitalizations and 2,962 deaths were recorded; the hospitalization coefficient for mental and behavioral disorders decreased in Brazil, from 122...
January 2017: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
https://www.readbyqxmd.com/read/28225789/non-melanoma-skin-cancer-and-risk-of-alzheimer-s-disease-and-all-cause-dementia
#8
Sigrun A J Schmidt, Anne G Ording, Erzsébet Horváth-Puhó, Henrik T Sørensen, Victor W Henderson
Cancer patients may be at decreased risk of Alzheimer's disease. This hypothesis is best developed for non-melanoma skin cancer (NMSC), but supportive epidemiological data are sparse. We therefore conducted a nationwide cohort study of the association between NMSC and Alzheimer's disease (main outcome) and all-cause dementia. Using Danish medical databases, we identified adults diagnosed with NMSC between 1 January 1980 and 30 November 2013 (n = 216,221) and a comparison cohort of five individuals matched to each NMSC patient by sex and birth year (n = 1,081,097)...
2017: PloS One
https://www.readbyqxmd.com/read/28225543/cuba-s-aging-and-alzheimer-longitudinal-study
#9
Juan de Jesús Llibre-Rodríguez, Adolfo Valhuerdi-Cepero, Ana M López-Medina, Lisseth Noriega-Fernández, Rutbeskia Porto-Álvarez, Milagros A Guerra-Hernández, Rodolfo I Bosch-Bayard, Tania Zayas-Llerena, Elaine Hernandez-Ulloa, Ana L Rodríguez-Blanco, Enrique Salazar-Pérez, Juan C Llibre-Guerra, Jorge J Llibre-Guerra, Beatriz Marcheco-Teruel
Aging and Alzheimer is a prospective, longitudinal cohort study involving 2944 adults aged ≥65 years from selected areas in Cuba's Havana and Matanzas Provinces. This door-to-door study, which began in 2003, includes periodic assessments of the cohort based on an interview; physical exam; anthropometric measurements; and diagnosis of dementia and its subtypes, other mental disorders, and other chronic non-communicable diseases and their risk factors. Information was gathered on sociodemographic characteristics; disability, dependency and frailty; use of health services; and characteristics of care and caregiver burden...
January 2017: MEDICC Review
https://www.readbyqxmd.com/read/28225507/high-hemoglobin-a1c-and-diabetes-predict-memory-decline-in-the-health-and-retirement-study
#10
Jessica R Marden, Elizabeth R Mayeda, Eric J Tchetgen Tchetgen, Ichiro Kawachi, M Maria Glymour
BACKGROUND: Type 2 diabetes (T2D) is an established risk factor for dementia, but evidence for T2D and memory decline is less consistent. Understanding how T2D and blood glucose relate to memory decline is crucial to elucidating the mechanisms linking T2D and dementia. MATERIALS AND METHODS: For 8888 Health and Retirement Study participants aged 50+, glycosylated hemoglobin (HbA1c) was measured in either 2006 or 2008 and physician's diagnosis of diabetes was self-reported in the same year...
January 2017: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/28225200/alcohol-dependence-and-risk-of-somatic-diseases-and-mortality-a-cohort-study-in-19-002-men-and-women-attending-alcohol-treatment
#11
Charlotte Holst, Janne Schurmann Tolstrup, Holger Jelling Sørensen, Ulrik Becker
AIMS: To (1) estimate sex-specific risks of a comprehensive spectrum of somatic diseases in alcohol dependent individuals versus a control population, and in the same population to (2) estimate sex-specific risks of dying from the examined somatic diseases. DESIGN: Register-based matched cohort study. Alcohol dependent individuals were identified from an alcohol treatment database. Controls were randomly selected from the Danish Civil Registration System. Information on somatic diseases obtained from the Danish National Patient Registry and causes of death obtained from the Cause of Death Registry...
February 22, 2017: Addiction
https://www.readbyqxmd.com/read/28225048/thiamine-deficiency-oxidative-metabolic-pathways-and-ethanol-induced-neurotoxicity-how-poor-nutrition-contributes-to-the-alcoholic-syndrome-as-marchiafava-bignami-disease
#12
REVIEW
L M P Fernandes, F R Bezerra, M C Monteiro, M L Silva, F R de Oliveira, R R Lima, E A Fontes-Júnior, C S F Maia
Ethanol is an important risk factor for the occurrence of several brain disorders that depend on the amount, period and frequency of its consumption. Chronic use of ethanol often leads to the development of neurodegenerative syndromes, which cause morphological and functional impairments such as foetal alcohol syndrome in newborns exposed to ethanol during pregnancy, Wernicke-Korsakoff Syndrome and, more rarely, Marchiafava-Bignami disease (MBD). MBD is characterized by primary degeneration of the corpus callosum, without inflammation and is associated with oxidative stress and hypovitaminosis, as well as altered mental status, to mention dementia, seizures, depression and so on...
February 22, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28224671/outcomes-after-diagnosis-of-mild-cognitive-impairment-in-a-large-autopsy-series
#13
Erin L Abner, Richard J Kryscio, Frederick A Schmitt, David W Fardo, Daniela C Moga, Eseosa T Ighodaro, Gregory A Jicha, Lei Yu, Hiroko H Dodge, Chengjie Xiong, Randall L Woltjer, Julie A Schneider, Nigel J Cairns, David A Bennett, Peter T Nelson
OBJECTIVE: Determine clinical and neuropathological outcomes following a clinical diagnosis of mild cognitive impairment (MCI). METHODS: Data were drawn from a large autopsy series (N=1,337) of individuals followed longitudinally from normal or MCI status to death, derived from four Alzheimer's Disease (AD) Centers in the United States. RESULTS: Mean follow-up was 7.9 years. Of the 874 individuals ever diagnosed with MCI, final clinical diagnoses were varied: 39...
February 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28222815/cognitive-stimulation-therapy-as-a-sustainable-intervention-for-dementia-in-sub-saharan-africa-feasibility-and-clinical-efficacy-using-a-stepped-wedge-design
#14
Stella-Maria Paddick, Sarah Mkenda, Godfrey Mbowe, Aloyce Kisoli, William K Gray, Catherine L Dotchin, Laura Ternent, Adesola Ogunniyi, John Kissima, Olaide Olakehinde, Declare Mushi, Richard W Walker
BACKGROUND: Cognitive stimulation therapy (CST) is a psychosocial group-based intervention for dementia shown to improve cognition and quality of life with a similar efficacy to cholinesterase inhibitors. Since CST can be delivered by non-specialist healthcare workers, it has potential for use in low-resource environments, such as sub-Saharan Africa (SSA). We aimed to assess the feasibility and clinical effectiveness of CST in rural Tanzania using a stepped-wedge design. METHODS: Participants and their carers were recruited through a community dementia screening program...
February 22, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28222528/comparing-approaches-to-optimize-cut-off-scores-for-short-cognitive-screening-instruments-in-mild-cognitive-impairment-and-dementia
#15
Rónán O'Caoimh, Yang Gao, Anton Svendovski, Paul Gallagher, Joseph Eustace, D William Molloy
BACKGROUND: Although required to improve the usability of cognitive screening instruments (CSIs), the use of cut-off scores is controversial yet poorly researched. OBJECTIVE: To explore cut-off scores for two short CSIs: the Standardized Mini-Mental State Examination (SMMSE) and Quick Mild Cognitive Impairment (Qmci) screen, describing adjustments in scores for diagnosis (MCI or dementia), age (≤, >75 years), and education (<, ≥12 years), comparing two methods: the maximal accuracy approach, derived from receiver operating characteristic curves, and Youden's Index...
February 10, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222369/what-can-gait-tell-us-about-dementia-review-of-epidemiological-and-neuropsychological-evidence
#16
REVIEW
Vyara Valkanova, Klaus P Ebmeier
BACKGROUND: Cognitive impairment and gait disorders in people over the age of 65 represent major public health issues because of their high frequency, their link to poor outcomes and high costs. Research has demonstrated that these two geriatric syndromes are closely related. METHODS AND RESULTS: We aim to review the evidence supporting the relationship between gait and cognitive impairment, particularly focusing on epidemiological and neuropsychological studies in patients with Mild cognitive impairment, Alzheimer's disease and Vascular dementia...
February 9, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28222300/free-and-cued-selective-reminding-test-accuracy-for-alzheimer-s-and-neurodegenerative-disease-differential-diagnosis-a-large-scale-biomarker-characterized-monocenter-cohort-study-clinad
#17
Marc Teichmann, Stéphane Epelbaum, Dalila Samri, Marcel Levy Nogueira, Agnès Michon, Harald Hampel, Foudil Lamari, Bruno Dubois
INTRODUCTION: The International Working Group recommended the Free and Cued Selective Reminding Test (FCSRT) as a sensitive detector of the amnesic syndrome of the hippocampal type in typical Alzheimer's disease (AD). But does it differentiate AD from other neurodegenerative diseases? METHODS: We assessed the FCSRT and cerebrospinal fluid (CSF) AD biomarkers in 992 cases. Experts, blinded to biomarker data, attributed in 650 cases a diagnosis of typical AD, frontotemporal dementia, posterior cortical atrophy, Lewy body disease, progressive supranuclear palsy, corticobasal syndrome, primary progressive aphasias, "subjective cognitive decline," or depression...
February 18, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28220347/stercoral-colitis-mimicking-appendicitis
#18
Abdelghafour Elkoundi, Mustapha Bensghir, Charki Haimeur
BACKGROUND: Stercoral colitis is an inflammatory process involving the colonic wall related to fecal impaction. This rare condition is associated with high morbidity-mortality. FINDINGS: We report a case of a 78-year-old woman with a history of dementia under clozapine who presented a clinical and sonographic presentation of acute appendicitis. The worsening of her clinical condition prompted us to review our diagnosis and modify our approach using the CT scan which was consistent with stercoral colitis...
December 2017: International Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28219990/an-outbreak-of-pellagra-in-the-kasese-catchment-area-dowa-malawi
#19
George Matapandeu, Samuel H Dunn, Patti Pagels
Pellagra is a deficiency of niacin or its amino acid precursor, tryptophan, which presents with the classic four Ds: the characteristic dermatitis, diarrhea, dementia, and eventually death if left untreated. The incidence of pellagra is quite rare presently because of increased awareness and strategies such as vitamin fortification. However, the deficiency is still present in cultures that rely on maize as their primary source of sustenance. We report a recent outbreak in a catchment area in Kasese, Malawi, of 691 cases of pellagra which were successfully treated with niacin supplementation...
February 20, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28219620/brain-structural-correlates-of-executive-and-social-cognition-profiles-in-behavioral-variant-frontotemporal-dementia-and-elderly-bipolar-disorder
#20
Sandra Baez, Clara Pinasco, María Roca, Jesica Ferrari, Blas Couto, Indira García-Cordero, Agustín Ibañez, Francy Cruz, Pablo Reyes, Diana Matallana, Facundo Manes, Marcelo Cetcovich, Teresa Torralva
An early stage of behavioral variant frontotemporal dementia (bvFTD) often displays a mix of behavioral disturbances and personality changes hindering a differential diagnosis from elderly bipolar disorder (BD), making this process a big challenge. However, no studies have compared these pathologies from neuropsychological and neuroanatomical perspectives. The aim of the present study was to compare the executive functions (EF) and social cognition profiles as well as the structural neuroimaging of bvFTD and elderly patients with BD...
February 17, 2017: Neuropsychologia
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