Read by QxMD icon Read

Weil's disease

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
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...
February 23, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
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
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
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
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
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
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
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...
November 15, 2017: Journal of Neuro-oncology
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
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...
November 11, 2017: Investigational New Drugs
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...
October 30, 2017: Journal of Clinical Investigation
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
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
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
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
Nitzan Avisar, Yael Heller, Clara Weil, Aviva Ben-Baruch, Shani Potesman-Yona, Ran Oren, Gabriel Chodick, Varda Shalev, Nachman Ash
BACKGROUND: In January 2015, the first interferon-free direct-acting antiviral (DAA) therapy for chronic hepatitis C virus (HCV) infection was approved for inclusion in Israel's national basket of health services. During 2015, HCV genotype 1 patients with advanced liver fibrosis (stage F3-F4) were eligible for treatment with ombitasvir/paritaprevir/ritonavir and dasabuvir (OMB/PTV/r + DSV) provided through the four national health plans. As all health plans committed to identifying eligible patients nationwide, risk-sharing agreements created an additional incentive to develop an innovative model for rapid treatment delivery...
September 28, 2017: Israel Journal of Health Policy Research
Xu Zhang, Weiling Hu, Fei Chen, Jiquan Liu, Yuanhang Yang, Liangjing Wang, Huilong Duan, Jianmin Si
Gastric precancerous diseases (GPD) may deteriorate into early gastric cancer if misdiagnosed, so it is important to help doctors recognize GPD accurately and quickly. In this paper, we realize the classification of 3-class GPD, namely, polyp, erosion, and ulcer using convolutional neural networks (CNN) with a concise model called the Gastric Precancerous Disease Network (GPDNet). GPDNet introduces fire modules from SqueezeNet to reduce the model size and parameters about 10 times while improving speed for quick classification...
2017: PloS One
Rimona S Weil, Tammaryn L Lashley, Jose Bras, Anette E Schrag, Jonathan M Schott
Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) are relentlessly progressive neurodegenerative disorders that are likely to represent two ends of a disease spectrum. It is well established that both are characterised pathologically by widespread cortical Lewy body deposition. However, until recently, the pathophysiological mechanisms leading to neuronal damage were not known. It was also not understood why some cells are particularly vulnerable in PDD/DLB, nor why some individuals show more aggressive and rapid dementia than others...
2017: F1000Research
Rina Tilak, Rajesh Kunwar, P K Tyagi, Anurag Khera, R K Joshi, Urmila B Wankhade
BACKGROUND: The global resurgence of rickettsial diseases and their potential to impact the fitness of military personnel and inflict widespread casualties amongst civil populations has emerged as a major cause of public health concern. Absence of surveillance system, lack of awareness amongst medical fraternity to rickettsial activity along with the difficulty in diagnosis because of their protean clinical manifestations are reasons for the outbreaks of these diseases. OBJECTIVES: To determine rickettsial activity amongst rodents and study vector diversity, abundance and their distribution to enable mapping of rickettsial hotspots...
July 2017: Indian Journal of Public Health
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"