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Inclusion body disease

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https://www.readbyqxmd.com/read/28934750/frontotemporal-dementia-caused-by-the-p301l-mutation-in-the-mapt-gene-clinicopathological-features-of-13-cases-from-the-same-geographical-origin-in-barcelona-spain
#1
Sergi Borrego-Écija, Joana Morgado, Leire Palencia-Madrid, Oriol Grau-Rivera, Ramón Reñé, Isabel Hernández, Consuelo Almenar, Mircea Balasa, Anna Antonell, José Luis Molinuevo, Albert Lladó, Marian Martínez de Pancorbo, Ellen Gelpi, Raquel Sánchez-Valle
BACKGROUND/AIMS: We identified and studied 13 patients carrying the P301L mutation in the MAPT gene from the same area (Baix Llobregat County) in Barcelona, Spain. METHODS: The demographic and clinical features were reviewed retrospectively. Detailed neuropathological characterization was obtained in 9 subjects. To investigate the origin of the P301L mutation in these families, 20 single nucleotide polymorphisms (SNPs) in the MAPT gene were analyzed. RESULTS: The mean age at disease onset was 51 years and the mean disease duration was 7 years...
September 22, 2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28934081/longitudinal-analysis-of-nut-inclusive-diets-and-body-mass-index-among-overweight-and-obese-african-american-women-living-in-rural-alabama-and-mississippi-2011-2013
#2
Samara R Sterling, Brenda Bertrand, Suzanne Judd, Tiffany L Carson, Paula Chandler-Laney, Monica L Baskin
INTRODUCTION: Nuts, when eaten alongside other nutritionally rich foods, may decrease obesity and related chronic disease risks, which are high among African American women in the rural South. We monitored changes in nut intake, other obesity-related foods (fruits, vegetables, red or processed meats, added sugars), and body mass index (BMI) over a 2-year weight loss intervention among 383 overweight and obese African American women in rural Alabama and Mississippi. METHODS: Two dietary recalls were administered at 4 points over 24 months...
September 21, 2017: Preventing Chronic Disease
https://www.readbyqxmd.com/read/28921554/dj-1-deficiency-impairs-autophagy-and-reduces-alpha-synuclein-phagocytosis-by-microglia
#3
Yuval Nash, Eran Schmukler, Dorit Trudler, Ronit Pinkas-Kramarski, Dan Frenkel
Parkinson's disease (PD) is a progressive neurodegenerative disorder, of which 1% of the hereditary cases are linked to mutations in DJ-1, an oxidative stress sensor. The pathological hallmark of PD is intercellular inclusions termed Lewy Bodies, composed mainly of α-Synuclein (α-Syn) protein. Recent findings have shown that α-Syn can be transmitted from cell to cell, suggesting an important role of microglia, as the main scavenger cells of the brain, in clearing α-Syn. We previously reported that the knock down (KD) of DJ-1 in microglia increased cells' neurotoxicity to dopaminergic neurons...
September 16, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28920936/dopamine-induces-soluble-%C3%AE-synuclein-oligomers-and-nigrostriatal-degeneration
#4
Danielle E Mor, Elpida Tsika, Joseph R Mazzulli, Neal S Gould, Hanna Kim, Malcolm J Daniels, Shachee Doshi, Preetika Gupta, Jennifer L Grossman, Victor X Tan, Robert G Kalb, Kim A Caldwell, Guy A Caldwell, John H Wolfe, Harry Ischiropoulos
Parkinson's disease (PD) is defined by the loss of dopaminergic neurons in the substantia nigra and the formation of Lewy body inclusions containing aggregated α-synuclein. Efforts to explain dopamine neuron vulnerability are hindered by the lack of dopaminergic cell death in α-synuclein transgenic mice. To address this, we manipulated both dopamine levels and α-synuclein expression. Nigrally targeted expression of mutant tyrosine hydroxylase with enhanced catalytic activity increased dopamine levels without damaging neurons in non-transgenic mice...
September 18, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28919394/concomitant-chemotherapy-and-radiotherapy-with-sbrt-boost-for-unresectable-stage-iii-non-small-cell-lung-cancer-a-phase-i-study
#5
Kristin A Higgins, Rathi N Pillai, Zhengjia Chen, Sibo Tian, Chao Zhang, Pretesh Patel, Suchita Pakkala, Jay Shelton, Seth D Force, Felix G Fernandez, Conor E Steuer, Taofeek K Owonikoko, Suresh S Ramalingam, Jeffrey D Bradley, Walter J Curran
PURPOSE: Stereotactic Body Radiation Therapy (SBRT) is now the standard of care in medically inoperable stage I non-small cell lung cancer, yielding high rates of local control. It is unknown if SBRT can be safely utilized in the locally advanced NSCLC setting. This multi-institution phase I study evaluated the safety of 44 Gy conventionally fractionated thoracic radiation with concurrent chemotherapy plus a dose escalated SBRT boost to both the primary tumor and involved mediastinal lymph nodes...
September 12, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/28915404/dynamic-phosphorylation-of-ebola-virus-vp30-in-np-induced-inclusion-bodies
#6
Clemens Lier, Stephan Becker, Nadine Biedenkopf
Zaire Ebolavirus (EBOV) causes a severe feverish disease with high case fatality rates. Transcription of EBOV is dependent on the activity of the nucleocapsid protein VP30 which represents an essential viral transcription factor. Activity of VP30 is regulated via phosphorylation at six N-terminal serine residues. Recent data demonstrated that dynamic phosphorylation and dephosphorylation of serine residue 29 is essential for transcriptional support activity of VP30. To analyze the spatio/temporal dynamics of VP30 phosphorylation, we generated a peptide antibody recognizing specifically VP30 phosphorylated at serine 29...
September 12, 2017: Virology
https://www.readbyqxmd.com/read/28914600/reduction-of-18-f-fdg-dose-in-clinical-pet-mr-imaging-by-using-silicon-photomultiplier-detectors
#7
Tetsuro Sekine, Gaspar Delso, Konstantinos G Zeimpekis, Felipe de Galiza Barbosa, Edwin E G W Ter Voert, Martin Huellner, Patrick Veit-Haibach
Purpose To determine the level of clinically acceptable reduction in injected fluorine 18 ((18)F) fluorodeoxyglucose (FDG) dose in time-of-flight (TOF)-positron emission tomography(PET)/magnetic resonance (MR) imaging by using silicon photomultiplier (SiPM) detectors compared with TOF-PET/computed tomography (CT) using Lu1.8Y0.2SiO5(Ce), or LYSO, detectors in patients with different body mass indexes (BMIs). Materials and Methods Patients were enrolled in this study as part of a larger prospective study with a different purpose than evaluated in this study (NCT02316431)...
September 14, 2017: Radiology
https://www.readbyqxmd.com/read/28912904/fasciatherapy-and-reflexology-compared-to-hypnosis-and-music-therapy-in-daily-stress-management
#8
Bernard Payrau, Nadine Quere, Elisabeth Breton, Christine Payrau
BACKGROUND: Patients suffering from stress symptoms due to every-day life who are looking for a non-pharmacological response to their relief expectation are many. Furthermore, early reckoning of the day-to-day stress which may lead to clinical diagnosis is the best way of preventing the stress-related diseases. Among the many alternative medicinal options, there is little evidence that fasciatherapy (Fs) and reflexology (Rf) are effective in this field. PURPOSE: assess incidence of fasciatherapy Danis Bois Method (DBM) and of reflexology on patients' stress level in everyday-life, and provide a more informed choice among the numerous mind and body techniques by comparing them with hypnosis (Hp) and music therapy (Mt)...
September 2017: International Journal of Therapeutic Massage & Bodywork
https://www.readbyqxmd.com/read/28912666/prevalence-of-low-back-pain-in-iranian-nurses-a-systematic-review-and-meta-analysis
#9
Yosra Azizpour, Ali Delpisheh, Zahra Montazeri, Kourosh Sayehmiri
BACKGROUND: Low back pain (LBP) as a musculoskeletal disorder is one of the most common occupational injuries in nurses but there isn't any valid measure of the prevalence of LBP in Iranian nursing. In order to increase the power and improve the estimates of the prevalence of LBP in Iranian nurses, a comprehensive meta-analysis was carried out. A summary measure of all studies conducted in this field was found and distributions of LBP were evaluated based on different variables. METHODS: Inclusion criteria included articles with prevalence of LBP in Iranian nurses, who had at least six months of work experience without any trauma, injuries to spine, or any underlying disease...
2017: BMC Nursing
https://www.readbyqxmd.com/read/28911198/loss-of-native-%C3%AE-synuclein-multimerization-by-strategically-mutating-its-amphipathic-helix-causes-abnormal-vesicle-interactions-in-neuronal-cells
#10
Ulf Dettmer, Nagendran Ramalingam, Victoria E von Saucken, Tae-Eun Kim, Andrew J Newman, Elizabeth Terry-Kantor, Silke Nuber, Maria Ericsson, Saranna Fanning, Tim Bartels, Susan Lindquist, Oren A Levy, Dennis Selkoe
α-Synuclein (αS) forms round cytoplasmic inclusions in Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Evidence suggests a physiological function of αS in vesicle trafficking and release. In contrast to earlier tenets, recent work indicates that αS normally exists in cells in a dynamic equilibrium between monomers and tetramers/multimers. We engineered αS mutants incapable of multimerization, leading to excess monomers at vesicle membranes. By EM, such mutants induced prominent vesicle clustering, leading to round cytoplasmic inclusions...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28902960/the-prognostic-significance-of-lung-function-in-stable-heart-failure-outpatients
#11
Louis Lind Plesner, Morten Dalsgaard, Morten Schou, Lars Køber, Jørgen Vestbo, Erik Kjøller, Kasper Iversen
BACKGROUND: This study investigated the impact on all-cause mortality of airflow limitation indicative of chronic obstructive pulmonary disease or restrictive spirometry pattern (RSP) in a stable systolic heart failure population. HYPOTHESIS: Decreased lung function indicates poor survival in heart failure. METHODS: Inclusion criteria: NYHA class II-IV and left ventricular ejection fraction (LVEF) < 45%. Prognosis was assessed with multivariate Cox proportional hazards models...
September 13, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28899465/-clinical-features-and-myo5b-mutations-of-a-family-affected-by-microvillus-inclusion-disease
#12
Ying Cheng, Hong Liang, Na-Li Cai, Li Guo, Yu-Ge Huang, Yuan-Zong Song
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera...
September 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28899011/neuronal-intranuclear-hyaline-inclusion-disease-and-fragile-x-associated-tremor-ataxia-syndrome-a-morphological-and-molecular-dilemma
#13
Ellen Gelpi, Teresa Botta-Orfila, Laia Bodi, Stefanie Marti, Gabor Kovacs, Oriol Grau-Rivera, Manuel Lozano, Raquel Sánchez-Valle, Esteban Muñoz, Francesc Valldeoriola, Javier Pagonabarraga, Gian-Gaetano Tartaglia, Montserrat Milà
No abstract text is available yet for this article.
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28899001/a-role-for-autoantibodies-in-atherogenesis
#14
Rosebella A Iseme, Mark McEvoy, Brian Kelly, Linda Agnew, Frederick R Walker, Tonelle Handley, Christopher Oldmeadow, John Attia, Michael Boyle
An increased risk of cardiovascular disease (CVD) has long been recognized amongst people with autoimmune disease. It has been unclear whether this is due mainly to the ensuing treatment, particularly steroids, or whether some of this risk is due to the autoimmune process itself with subsequent inflammation. Indeed, a large body of evidence supports a role for chronic inflammation in atherogenesis, and autoantibodies have been identified as mediators in this complex inflammatory environment. Our aim is to carry out a systematic review of existing literature in order to formally establish the strength of the association between autoantibodies and atherosclerosis, amongst individuals without clinical autoimmune disease...
August 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28890085/in-situ-architecture-and-cellular-interactions-of-polyq-inclusions
#15
Felix J B Bäuerlein, Itika Saha, Archana Mishra, Maria Kalemanov, Antonio Martínez-Sánchez, Rüdiger Klein, Irina Dudanova, Mark S Hipp, F Ulrich Hartl, Wolfgang Baumeister, Rubén Fernández-Busnadiego
Expression of many disease-related aggregation-prone proteins results in cytotoxicity and the formation of large intracellular inclusion bodies. To gain insight into the role of inclusions in pathology and the in situ structure of protein aggregates inside cells, we employ advanced cryo-electron tomography methods to analyze the structure of inclusions formed by polyglutamine (polyQ)-expanded huntingtin exon 1 within their intact cellular context. In primary mouse neurons and immortalized human cells, polyQ inclusions consist of amyloid-like fibrils that interact with cellular endomembranes, particularly of the endoplasmic reticulum (ER)...
September 21, 2017: Cell
https://www.readbyqxmd.com/read/28883713/patients-knowledge-of-heart-failure-and-their-perception-of-the-disease
#16
Anna Płotka, Edyta Prokop, Jacek Migaj, Ewa Straburzyńska-Migaj, Stefan Grajek
PURPOSE: The aim of this study was to gain a deeper insight into patients' perception of chronic heart failure (CHF) symptoms by analyzing their compliance with nonpharmacological recommendations. PATIENTS AND METHODS: This was a prospective, single-center survey-based registry. Patients included in this study were hospitalized between December 2014 and January 2016 at the 1(st) Department of Cardiology, University Hospital of Lord's Transfiguration, Poznań University of Medical Sciences, and had been diagnosed with CHF at least 3 months prior to inclusion...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28883125/defining-optimal-brain-health-in-adults-a-presidential-advisory-from-the-american-heart-association-american-stroke-association
#17
REVIEW
Philip B Gorelick, Karen L Furie, Costantino Iadecola, Eric E Smith, Salina P Waddy, Donald M Lloyd-Jones, Hee-Joon Bae, Mary Ann Bauman, Martin Dichgans, Pamela W Duncan, Meighan Girgus, Virginia J Howard, Ronald M Lazar, Sudha Seshadri, Fernando D Testai, Stephen van Gaal, Kristine Yaffe, Hank Wasiak, Charlotte Zerna
Cognitive function is an important component of aging and predicts quality of life, functional independence, and risk of institutionalization. Advances in our understanding of the role of cardiovascular risks have shown them to be closely associated with cognitive impairment and dementia. Because many cardiovascular risks are modifiable, it may be possible to maintain brain health and to prevent dementia in later life. The purpose of this American Heart Association (AHA)/American Stroke Association presidential advisory is to provide an initial definition of optimal brain health in adults and guidance on how to maintain brain health...
September 7, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28882918/prevalence-and-clinical-characteristics-of-apparent-therapy-resistant-hypertension-in-patients-with-cardiovascular-disease-a-cross-sectional-cohort-study-in-secondary-care
#18
Esther de Beus, Nicolette G C van der Sande, Michiel L Bots, Wilko Spiering, Michiel Voskuil, Frank L J Visseren, Peter J Blankestijn
OBJECTIVES: Our aim was to investigate the prevalence of apparent therapy-resistant hypertension (aTRH) in patients with clinical manifest cardiovascular disease (CVD), and to study clinical characteristics related to aTRH in this population. SETTING: The SMART (Second Manifestations of ARTerial disease) study is a large, single-centre cohort study in secondary care. PARTICIPANTS: Office blood pressure (BP) at inclusion was used to evaluate BP control in 6191 hypertensive patients with clinical manifest (cardio)vascular disease...
September 6, 2017: BMJ Open
https://www.readbyqxmd.com/read/28881121/the-predictable-factors-of-the-postoperative-kyphotic-change-of-sagittal-alignment-of-the-cervical-spine-after-the-laminoplasty
#19
Jun Seok Lee, Dong Wuk Son, Su Hun Lee, Dong Ha Kim, Sang Weon Lee, Geun Sung Song
OBJECTIVE: Laminoplasty is an effective surgical method for treating cervical degenerative disease. However, postoperative complications such as kyphosis, restriction of neck motion, and instability are often reported. Despite sufficient preoperative lordosis, this procedure often aggravates the lordotic curve of the cervical spine and straightens cervical alignment. Hence, it is important to examine preoperative risk factors associated with postoperative kyphotic alignment changes. Our study aimed to investigate preoperative radiologic parameters associated with kyphotic deformity post laminoplasty...
September 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28877325/perioperative-blood-loss-during-total-hip-arthroplasty-among-patients-with-ankylosing-spondylitis
#20
Yong Hu, Wei-Zhou Jiang, Zhi-Fa Huang, Tahsin Tarik Torsha, De-Sheng Yang, Jun Xiao
Intraoperative blood loss is frequently an overarching concern during total hip arthroplasty (THA) for patients who have ankylosing spondylitis with hip involvement. However, the factors that affect blood loss have not been identified. The goal of this study was to investigate these factors among patients with ankylosing spondylitis. Patients in the authors' department who had ankylosing spondylitis and underwent unilateral THA from 2011 to 2016 were studied retrospectively. Demographic characteristics, perioperative laboratory values, intraoperative data, transfusion rate, transfusion volume, and data on hemostatic use were collected and analyzed statistically...
September 6, 2017: Orthopedics
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