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https://www.readbyqxmd.com/read/29773756/mir126-5p-down-regulation-facilitates-axon-degeneration-and-nmj-disruption-via-a-non-cell-autonomous-mechanism-in-als
#1
Roy Maimon, Ariel Ionescu, Avichai Bonnie, Sahar Sweetat, Shane Wald-Altman, Shani Inbar, Tal Gradus, Davide Trotti, Miguel Weil, Oded Behar, Eran Perlson
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in Amyotrophic Lateral Sclerosis (ALS) pathology. Although the disease's etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and alterations in RNA metabolism. Here, we identified reduced levels of miR-126-5p in pre-symptomatic ALS male mice models, and an increase in its targets: axon destabilizing type-3 Semaphorins and their co-receptor Neuropilins. Utilizing compartmentalized in vitro co-cultures, we demonstrated that myocytes expressing diverse ALS-causing mutations promote axon degeneration and NMJ dysfunction, which were inhibited by applying Neuropilin1 (NRP1) blocking antibody...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29698673/target-triggering-multiple-cycle-signal-amplification-strategy-for-ultrasensitive-detection-of-dna-based-on-qcm-and-spr
#2
Weiling Song, Xiaoyan Guo, Wenbo Sun, Wenshuo Yin, Peng He, Xiaoyan Yang, Xiaoru Zhang
Detection of ultralow concentrations of nucleic acid sequences is a central challenge in the early diagnosis of genetic diseases. Herein, we developed a target-triggering cascade multiple cycle amplification for ultrasensitive DNA detection using quartz crystal microbalance (QCM) and surface plasmon resonance (SPR). It was based on the exonuclease Ⅲ (Exo Ⅲ)-assisted signal amplification and the hybridization chain reaction (HCR). The streptavidin-coated Au-NPs (Au-NPs-SA) were assembled on the HCR products as recognition element...
April 23, 2018: Analytical Biochemistry
https://www.readbyqxmd.com/read/29650781/anatomic-and-angiographic-analyses-of-ophthalmic-artery-collaterals-in-moyamoya-disease
#3
T Robert, G Cicciò, P Sylvestre, A Chiappini, A G Weil, S Smajda, C Chaalala, R Blanc, M Reinert, M Piotin, M W Bojanowski
BACKGROUND AND PURPOSE: Moyamoya disease is a progressive neurovascular pathology defined by steno-occlusive disease of the distal internal carotid artery and associated with the development of compensatory vascular collaterals. The etiology and exact anatomy of vascular collaterals have not been extensively studied. The aim of this study was to describe the anatomy of collaterals developed between the ophthalmic artery and the anterior cerebral artery in a Moyamoya population. MATERIALS AND METHODS: All patients treated for Moyamoya disease from 2004 to 2016 in 4 neurosurgical centers with available cerebral digital subtraction angiography were included...
April 12, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29601600/the-incidence-of-medically-attended-norovirus-gastro-enteritis-in-japan-modelling-using-a-medical-care-insurance-claims-database
#4
Chia-Hsien Chang, Motonobu Sakaguchi, John Weil, Thomas Verstraeten
BACKGROUND: The burden of medically-attended acute gastro-enteritis (MA-AGE) that can be attributed to norovirus is not well established in Japan. Using a nationwide database of medical care insurance claims, we estimated the incidence of medically-attended norovirus-attributable gastroenteritis (MA-NGE) in Japan. METHODS: The incidences of MA-NGE outpatient consultations or hospitalization in Japan were modelled on seasonal patterns of MA-AGE for unspecified causes derived from the Japan Medical Data Center (JMDC) database for the period July 2007 to June 2015...
2018: PloS One
https://www.readbyqxmd.com/read/29525906/mild-cognitive-impairment-in-parkinson-s-disease-what-is-it
#5
REVIEW
Rimona S Weil, Alyssa A Costantini, Anette E Schrag
PURPOSE OF REVIEW: Mild cognitive impairment is a common feature of Parkinson's disease, even at the earliest disease stages, but there is variation in the nature and severity of cognitive involvement and in the risk of conversion to Parkinson's disease dementia. This review aims to summarise current understanding of mild cognitive impairment in Parkinson's disease. We consider the presentation, rate of conversion to dementia, underlying pathophysiology and potential biomarkers of mild cognitive impairment in Parkinson's disease...
March 10, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29473691/assessing-cognitive-dysfunction-in-parkinson-s-disease-an-online-tool-to-detect-visuo-perceptual-deficits
#6
Rimona S Weil, Dietrich S Schwarzkopf, Bahador Bahrami, Stephen M Fleming, Ben M Jackson, Tristam J C Goch, Ayse P Saygin, Luke E Miller, Katerina Pappa, Ivanna Pavisic, Rachel N Schade, Alastair J Noyce, Sebastian J Crutch, Aidan G O'Keeffe, Anette E Schrag, Huw R Morris
BACKGROUND: People with Parkinson's disease (PD) who develop visuo-perceptual deficits are at higher risk of dementia, but we lack tests that detect subtle visuo-perceptual deficits and can be performed by untrained personnel. Hallucinations are associated with cognitive impairment and typically involve perception of complex objects. Changes in object perception may therefore be a sensitive marker of visuo-perceptual deficits in PD. OBJECTIVE: We developed an online platform to test visuo-perceptual function...
April 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29378790/features-of-gba-associated-parkinson-s-disease-at-presentation-in-the-uk-tracking-parkinson-s-study
#7
Naveed Malek, Rimona S Weil, Catherine Bresner, Michael A Lawton, Katherine A Grosset, Manuela Tan, Nin Bajaj, Roger A Barker, David J Burn, Thomas Foltynie, John Hardy, Nicholas W Wood, Yoav Ben-Shlomo, Nigel W Williams, Donald G Grosset, Huw R Morris
OBJECTIVES: To examine the influence of the glucocerebrosidase ( GBA ) mutation carrier state on age at onset of Parkinson's disease (PD), the motor phenotype and cognitive function at baseline assessment in a large cohort of UK patients. We also analysed the prevalence of mood and behavioural problems that may confound the assessment of cognitive function. METHODS: We prospectively recruited patients with PD in the Tracking Parkinson's study. We fully sequenced the GBA gene in all recently diagnosed patients (≤3...
January 29, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29306353/vibrio-cholerae-genomic-diversity-within-and-between-patients
#8
Inès Levade, Yves Terrat, Jean-Baptiste Leducq, Ana A Weil, Leslie M Mayo-Smith, Fahima Chowdhury, Ashraful I Khan, Jacques Boncy, Josiane Buteau, Louise C Ivers, Edward T Ryan, Richelle C Charles, Stephen B Calderwood, Firdausi Qadri, Jason B Harris, Regina C LaRocque, B Jesse Shapiro
Cholera is a severe, water-borne diarrhoeal disease caused by toxin-producing strains of the bacterium Vibrio cholerae. Comparative genomics has revealed 'waves' of cholera transmission and evolution, in which clones are successively replaced over decades and centuries. However, the extent of V. cholerae genetic diversity within an epidemic or even within an individual patient is poorly understood. Here, we characterized V. cholerae genomic diversity at a micro-epidemiological level within and between individual patients from Bangladesh and Haiti...
December 2017: Microbial Genomics
https://www.readbyqxmd.com/read/29250188/low-mir-210-and-casp8ap2-expression-is-associated-with-a-poor-outcome-in-pediatric-acute-lymphoblastic-leukemia
#9
Yanyan Mei, Zhigang Li, Yi Zhang, Weiling Zhang, Huimin Hu, Pinwei Zhang, Minyuan Wu, Dongsheng Huang
The prognostic significance of microRNA (miR)-210 and the caspase 8-associated protein 2 ( CASP8AP2 ) gene in children with acute lymphoblastic leukemia (ALL) has been validated and CASP8AP2 has been demonstrated as a target of miR-210. In the present study, the reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was used to determine miR-210 and CASP8AP2 expression in 91 children with ALL. Associations between gene expression levels and the prognostic value of combined detection of the two indicators were analyzed...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29246974/pancreatic-pericytes-support-%C3%AE-cell-function-in-a-tcf7l2-dependent-manner
#10
Lina Sakhneny, Eleonor Rachi, Alona Epshtein, Helen C Guez, Shane Wald-Altman, Michal Lisnyansky, Laura Khalifa-Malka, Adina Hazan, Daria Baer, Avi Priel, Miguel Weil, Limor Landsman
Polymorphism in TCF7L2 , a component of the canonical Wnt signaling pathway, has a strong association with β-cell dysfunction and type 2 diabetes through a mechanism that has yet to be defined. β-Cells rely on cells in their microenvironment, including pericytes, for their proper function. Here, we show that Tcf7l2 activity in pancreatic pericytes is required for β-cell function. Transgenic mice in which Tcf7l2 was selectively inactivated in their pancreatic pericytes exhibited impaired glucose tolerance due to compromised β-cell function and glucose-stimulated insulin secretion...
March 2018: Diabetes
https://www.readbyqxmd.com/read/29242787/foot-deformities-in-hajdu-cheney-syndrome-a-rare-case-report-and-review-of-the-literature
#11
Ashish B Shah, Breann K Tisano, Osama Elattar, Jackson Rucker Staggers, Sameer Naranje
Introduction: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#12
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29143272/preliminary-results-of-immune-modulating-antibody-mdv9300-pidilizumab-treatment-in-children-with-diffuse-intrinsic-pontine-glioma
#13
Iris Fried, Alex Lossos, Tal Ben Ami, Rina Dvir, Helen Toledano, Myriam Weil Ben Arush, Sergei Postovski, Abed Abu Kuidar, Michal Yalon, Michael Weintraub, Mony Benifla
Diffuse intrinsic pontine glioma (DIPG) is an incurable disease with a median overall survival of 10 months. Immune modulating antibodies have recently emerged as a highly promising treatment modality in multiple cancer types. We present results from the first study to evaluate the immune modulating antibody MDV9300 (pidilizumab) in pediatric patients with DIPG. All patients aged 3 years and older, diagnosed with DIPG between February 2014 and June 2015 in Israel, were offered to participate in the study...
January 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29129539/leptospirosis-report-from-the-task-force-on-tropical-diseases-by-the-world-federation-of-societies-of-intensive-and-critical-care-medicine
#14
REVIEW
Juan Ignacio Silesky Jiménez, Jorge Luis Hidalgo Marroquin, Guy A Richards, Pravin Amin
Leptospirosis is a zoonosis caused by a gram negative aerobic spirochete of the genus Leptospira. It is acquired by contact with urine or reproductive fluids from infected animals, or by inoculation from contaminated water or soil. The disease has a global distribution, mainly in tropical and subtropical regions that have a humid, rainy climate and is also common in travelers returning from these regions. Clinical suspicion is critical for the diagnosis and it should be included in the differential diagnosis of any patient with a febrile hepatorenal syndrome in, or returning from endemic regions...
February 2018: Journal of Critical Care
https://www.readbyqxmd.com/read/29127533/a-phase-2-study-of-ontuxizumab-a-monoclonal-antibody-targeting-endosialin-in-metastatic-melanoma
#15
Sandra P D'Angelo, Omid A Hamid, Ahmad Tarhini, Dirk Schadendorf, Bartosz Chmielowski, Frances A Collichio, Anna C Pavlick, Karl D Lewis, Susan C Weil, John Heyburn, Charles Schweizer, Daniel J O'Shannessy, Richard D Carvajal
Objectives Ontuxizumab (MORAB-004) is a first-in-class monoclonal antibody that interferes with endosialin function, which is important in tumor stromal cell function, angiogenesis, and tumor growth. This Phase 2 study evaluated the 24-week progression-free survival (PFS) value, pharmacokinetics, and tolerability of 2 doses of ontuxizumab in patients with metastatic melanoma. Patients and methods Patients with metastatic melanoma and disease progression after receiving at least 1 prior systemic treatment were randomized to receive ontuxizumab (2 or 4 mg/kg) weekly, without dose change, until disease progression...
February 2018: Investigational New Drugs
https://www.readbyqxmd.com/read/29083324/protein-kinase-a-determines-platelet-life-span-and-survival-by-regulating-apoptosis
#16
Lili Zhao, Jun Liu, Chunyan He, Rong Yan, Kangxi Zhou, Qingya Cui, Xingjun Meng, Xiaodong Li, Yang Zhang, Yumei Nie, Yang Zhang, Renping Hu, Yancai Liu, Lian Zhao, Mengxing Chen, Weiling Xiao, Jingluan Tian, Yunxiao Zhao, Lijuan Cao, Ling Zhou, Anning Lin, Changgeng Ruan, Kesheng Dai
Apoptosis delimits platelet life span in the circulation and leads to storage lesion, which severely limits the shelf life of stored platelets. Moreover, accumulating evidence indicates that platelet apoptosis provoked by various pathological stimuli results in thrombocytopenia in many common diseases. However, little is known about how platelet apoptosis is initiated or regulated. Here, we show that PKA activity is markedly reduced in platelets aged in vitro, stored platelets, and platelets from patients with immune thrombocytopenia (ITP), diabetes, and bacterial infections...
December 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29054530/a-molecular-morphometric-approach-to-diabetic-kidney-disease-can-link-structure-to-function-and-outcome
#17
Viji Nair, Claudiu V Komorowsky, E Jennifer Weil, Berne Yee, Jeffrey Hodgin, Jennifer L Harder, Bradley Godfrey, Wenjun Ju, Carine M Boustany-Kari, Margrit Schwarz, Kevin V Lemley, Peter J Nelson, Robert G Nelson, Matthias Kretzler
Diabetic kidney disease is the leading cause of kidney failure. However, studies of molecular mechanisms of early kidney damage are lacking. Here we examined for possible linkage between transcriptional regulation and quantitative structural damage in early diabetic kidney disease in Pima Indians with type 2 diabetes. Tissue obtained from protocol kidney biopsies underwent genome-wide compartment-specific gene expression profiling and quantitative morphometric analysis. The ultrastructural lesion most strongly associated with transcriptional regulation was cortical interstitial fractional volume (VvInt), an index of tubule-interstitial damage...
February 2018: Kidney International
https://www.readbyqxmd.com/read/29053804/reply-mri-findings-of-visual-system-alterations-in-parkinson-s-disease
#18
Rimona S Weil, Peter McColgan, Anette E Schrag, Jason D Warren, Sebastian J Crutch, Andrew J Lees, Huw R Morris
No abstract text is available yet for this article.
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29036709/deep-learning-of-the-splicing-epi-genetic-code-reveals-a-novel-candidate-mechanism-linking-histone-modifications-to-esc-fate-decision
#19
Yungang Xu, Yongcui Wang, Jiesi Luo, Weiling Zhao, Xiaobo Zhou
Alternative splicing (AS) is a genetically and epigenetically regulated pre-mRNA processing to increase transcriptome and proteome diversity. Comprehensively decoding these regulatory mechanisms holds promise in getting deeper insights into a variety of biological contexts involving in AS, such as development and diseases. We assembled splicing (epi)genetic code, DeepCode, for human embryonic stem cell (hESC) differentiation by integrating heterogeneous features of genomic sequences, 16 histone modifications with a multi-label deep neural network...
December 1, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28992267/white-blood-cell-fractions-correlate-with-lesions-of-diabetic-kidney-disease-and-predict-loss-of-kidney-function-in-type-2-diabetes
#20
Kevin M Wheelock, Pierre-Jean Saulnier, Stephanie K Tanamas, Pavithra Vijayakumar, E Jennifer Weil, Helen C Looker, Robert L Hanson, Kevin V Lemley, Berne Yee, William C Knowler, Samy Hadjadj, Bezhad Najafian, Michael Mauer, Robert G Nelson
Background: Inflammation linked to diabetic kidney disease (DKD) may affect white blood cell (WBC) counts and differentials. We examined the cross-sectional associations of total WBC count and WBC fractions with structural lesions of DKD in 108 Pima Indians with Type 2 diabetes who underwent research kidney biopsies. We also examined the longitudinal association of these WBC variables with renal function loss (RFL) in 941 Europeans with Type 2 diabetes from the SURDIAGENE study. Methods: Associations of WBC variables with morphometric parameters were assessed by linear regression...
July 18, 2017: Nephrology, Dialysis, Transplantation
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