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https://www.readbyqxmd.com/read/28921828/hdl-c-apoa-i-a-multi-vessel-cardiometabolic-risk-marker-in-women-with-t2dm
#1
Michel P Hermans, Paul Valensi, Sylvie A Ahn, Michel F Rousseau
AIMS: Although women have higher HDL-C than men, their HDL particles are also prone to become small, dense and dysfunctional in case of T2DM. To assess the vascular risk related to HDLs of different sizes/densities without direct measurement, we adjusted HDL-C to its main apolipoprotein (apoA-I), as [HDL-C/apoA-I]. This ratio estimates HDLs size and provides indices as to their number, cholesterol load, and density. METHODS: We stratified 280 Caucasian T2DM women according to [HDL-C/apoA-I] quartiles (Q), to determine how it segregates cardiometabolic risk, β-cell function, glycemic control, and vascular complications...
September 15, 2017: Diabetes/metabolism Research and Reviews
https://www.readbyqxmd.com/read/28921803/the-pathophysiology-of-arterial-vasodilatation-and-hyperdynamic-circulation-in-cirrhosis
#2
Søren Møller, Flemming Bendtsen
Patients with cirrhosis and portal hypertension often develop complications from a variety of organ systems leading to a multiple organ failure. The combination of liver failure and portal hypertension result in a hyperdynamic circulatory state partly owing to simultaneous splanchnic and peripheral arterial vasodilatation. Increases in circulatory vasodilators are believed to be due to portosystemic shunting and bacterial translocation leading to redistribution of the blood volume with central hypovolemia. Portal hypertension per se and increased splanchnic blood flow are mainly responsible for the development and perpetuation of the hyperdynamic circulation and the associated changes in cardiovascular function with development of cirrhotic cardiomyopathy, autonomic dysfunction, and renal dysfunction as part of a cardiorenal syndrome...
September 16, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28921387/analysis-of-24-genes-reveals-a-monogenic-cause-in-11-1-of-cases-with-steroid-resistant-nephrotic-syndrome-at-a-single-center
#3
Weizhen Tan, Svjetlana Lovric, Shazia Ashraf, Jia Rao, David Schapiro, Merlin Airik, Shirlee Shril, Heon Yung Gee, Michelle Baum, Ghaleb Daouk, Michael A Ferguson, Nancy Rodig, Michael J G Somers, Deborah R Stein, Asaf Vivante, Jillian K Warejko, Eugen Widmeier, Friedhelm Hildebrandt
BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of end-stage renal disease (ESRD) among patients manifesting at under 25 years of age. We performed mutation analysis using a high-throughput PCR-based microfluidic technology in 24 single-gene causes of SRNS in a cohort of 72 families, who presented with SRNS before the age of 25 years. METHODS: Within an 18-month interval, we obtained DNA samples, pedigree information, and clinical information from 77 consecutive children with SRNS from 72 different families seen at Boston Children's Hospital (BCH)...
September 18, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28920956/biotin-tagging-of-mecp2-in-mice-reveals-contextual-insights-into-the-rett-syndrome-transcriptome
#4
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M Lamonica, Yoon Jung Kim, George Georgakilas, Kathleen H Wood, Daniel Bu, Yue Cui, Darren Goffin, Golnaz Vahedi, Tae Hoon Kim, Zhaolan Zhou
Mutations in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. However, the cellular heterogeneity of the brain impedes an understanding of how MECP2 mutations contribute to RTT. Here we developed a Cre-inducible method for cell-type-specific biotin tagging of MeCP2 in mice. Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons...
September 18, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28920571/recurrent-seasonal-outbreak-of-an-emerging-serotype-of-shiga-toxin-producing-escherichia-coli-stec-o55-h7-stx2a-in-the-south-west-of-england-july-2014-to-september-2015
#5
Noëleen McFarland, Nick Bundle, Claire Jenkins, Gauri Godbole, Amy Mikhail, Tim Dallman, Catherine O'Connor, Noel McCarthy, Emer O'Connell, Juli Treacy, Girija Dabke, James Mapstone, Yvette Landy, Janet Moore, Rachel Partridge, Frieda Jorgensen, Caroline Willis, Piers Mook, Chas Rawlings, Richard Acornley, Charlotte Featherstone, Sharleen Gayle, Joanne Edge, Eleanor McNamara, Jeremy Hawker, Sooria Balasegaram
The first documented British outbreak of Shiga toxin-producing Escherichia coli (STEC) O55:H7 began in the county of Dorset, England, in July 2014. Since then, there have been a total of 31 cases of which 13 presented with haemolytic uraemic syndrome (HUS). The outbreak strain had Shiga toxin (Stx) subtype 2a associated with an elevated risk of HUS. This strain had not previously been isolated from humans or animals in England. The only epidemiological link was living in or having close links to two areas in Dorset...
September 7, 2017: Euro Surveillance: Bulletin Européen sur les Maladies Transmissibles, European Communicable Disease Bulletin
https://www.readbyqxmd.com/read/28919304/safety-of-novel-liposomal-drugs-for-cancer-treatment-advances-and-prospects
#6
REVIEW
Keyu He, Meng Tang
Liposome is a kind of prospective abiotic drug delivery system for cancer treatment. Novel liposomes modified with PEG, cationic lipids and highly selective molecules achieve better stability, half-life and selectivity as well as less severe side effects. However, novel liposomes are still not nontoxic. PEG on the surface of liposomes interfere the combination of cancer cells and drugs. Cationic liposomes can induce oxidative damage and cytotoxicity to normal tissues. To further improve the safety of liposomal drugs, liposomal drugs must be highly selective to cancer tissues and cancer cells, at the same time, induce minimum damage to normal cells...
September 15, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28919236/biomarkers-for-diagnosis-of-pediatric-acute-neuropsychiatric-syndrome-pans-sensitivity-and-specificity-of-the-cunningham-panel
#7
Eva Hesselmark, Susanne Bejerot
OBJECTIVE: Pediatric Acute Neuropsychiatric Syndrome (PANS) and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) are conditions marked by sudden onset of obsessive-compulsive disorder (OCD), tics, or avoidant/restrictive food intake in combination with multiple psychiatric symptoms. A diagnosis of PANS or PANDAS may be supported by the Cunningham Panel, a commercially available set of immunologic assays currently in clinical use. However, the relationship between Cunningham Panel results and patient symptoms remains unclear...
September 9, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28919233/craniospinal-germinomas-in-a-patient-with-down-syndrome-successfully-treated-with-standard-dose-chemotherapy-and-craniospinal-irradiation-a-case-report-and-literature-review
#8
Yohei Miyake, Jun-Ichi Adachi, Tomonari Suzuki, Kazuhiko Mishima, Atsushi Sasaki, Ryo Nishikawa
BACKGROUND: Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancers has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation is reported. CASE DESCRIPTION: The authors report a case of multiple craniospinal germinomas in a DS patient who presented with bilateral oculomotor and facial nerve palsy and hearing loss...
September 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28919160/polycystic-ovary-syndrome-in-adolescents
#9
REVIEW
Stephanie S Rothenberg, Rachel Beverley, Emily Barnard, Massoud Baradaran-Shoraka, Joseph S Sanfilippo
Polycystic ovary syndrome (PCOS) typically manifests with a combination of menstrual dysfunction and evidence of hyperandrogenism in the adolescent population. No single cause has been identified; however, evidence suggests a complex interplay between genetic and environmental factors. Polycystic ovary syndrome presents a particular diagnostic challenge in adolescents as normal pubertal changes can present with a similar phenotype. Management of PCOS in the adolescent population should focus on a multi-modal approach with lifestyle modification and pharmacologic treatment to address bothersome symptoms...
September 1, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28919152/erector-spinae-plane-esp-block-in-the-management-of-post-thoracotomy-pain-syndrome-a-case-series
#10
Mauricio Forero, Manikandan Rajarathinam, Sanjib Adhikary, Ki Jinn Chin
BACKGROUND AND AIMS: Post thoracotomy pain syndrome (PTPS) remains a common complication of thoracic surgery with significant impact on patients' quality of life. Management usually involves a multidisciplinary approach that includes oral and topical analgesics, performing appropriate interventional techniques, and coordinating additional care such as physiotherapy, psychotherapy and rehabilitation. A variety of interventional procedures have been described to treat PTPS that is inadequately managed with systemic or topical analgesics...
September 11, 2017: Scandinavian Journal of Pain
https://www.readbyqxmd.com/read/28918657/direct-oral-anticoagulant-use-in-atypical-thrombosis-related-conditions
#11
Clement Chang, Mario Hoyos, Yaw Owusu, Hazem Elewa
OBJECTIVE: To review the published literature for evidence of the efficacy and safety of direct oral anticoagulants (DOACs) when used in the management of atypical thrombosis-related conditions. DATA SOURCES: A comprehensive MEDLINE database search (1948 to July 2017) and EMBASE search (1980 to July 2017) were conducted using the search terms direct oral anticoagulant in combination with acute coronary syndrome (ACS), antiphospholipid antibody syndrome (APLAS), and cancer-associated thrombosis (CAT)...
September 1, 2017: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/28918510/acquired-hepatocerebral-degeneration-ahd-a-peculiar-neurological-impairment-in-advanced-chronic-liver-disease
#12
A Pigoni, F Iuculano, C Saetti, L Airaghi, L Burdick, S Spreafico, M Curioni, R Lombardi, L Valenti, A L Fracanzani, S Fargion
We discuss the case of a rare and often unrecognized neurologic syndrome, called Acquired Hepatocerebral Degeneration (AHD), observed in patients with advanced liver disease and portosystemic shunts. The clinical manifestations can be very heterogeneous and in our case included a combination of cerebellar and extrapyramidal signs, arisen in a period of few days. Brain Magnetic Resonance Imaging (MRI) showed, in T1-weighted images, diffuse bilateral hyper intensities in basal ganglia and biemispheric brain and cerebellar cortices, resembling paramagnetic deposits...
September 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28918405/renal-cell-carcinoma-with-isolated-metastasis-to-sigmoid-mesentery-a-rare-resectable-combination
#13
Hira Lal, Priyank Yadav, Shashidhar Achar, Uday Pratap Singh
Renal cell carcinoma accounts for 2%-3% of all malignancies in adults. It spreads via direct extension, lymphatic route as well as haematogenous route. Lymph nodes, lungs, bone, liver and brain are the usual sites for its metastatic spread. In the presence of limited metastatic disease with potentially resectable metastases, surgery offers the best chances of cure. In the present case, we describe a case of renal cell carcinoma with a solitary metastasis to the sigmoid mesentery in a patient with Von Hippel-Lindau syndrome...
September 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28918231/highly-sensitive-surface-plasmon-resonance-biosensor-for-the-detection-of-hiv-related-dna-based-on-dynamic-and-structural-dna-nanodevices
#14
Wei Diao, Min Tang, Shijia Ding, Xinmin Li, Wenbin Cheng, Fei Mo, Xiaoyu Yan, Hongmin Ma, Yurong Yan
Early detection, diagnosis and treatment of human immune deficiency virus (HIV) infection is the key to reduce acquired immunodeficiency syndrome (AIDS) mortality. In our research, an innovative surface plasmon resonance (SPR) biosensing strategy has been developed for highly sensitive detection of HIV-related DNA based on entropy-driven strand displacement reactions (ESDRs) and double-layer DNA tetrahedrons (DDTs). ESDRs as enzyme-free and label-free signal amplification circuit can be specifically triggered by target DNA, leading to the cyclic utilization of target DNA and the formation of plentiful double-stranded DNA (dsDNA) products...
September 9, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28918053/ush2a-gene-editing-using-the-crispr-system
#15
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D Sequedo, Carmen Ayuso, Rafael P Vázquez-Manrique, José M Millán, Elena Aller
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28916646/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family
#16
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann-Hagemann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family...
September 15, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916186/clinical-immunological-and-genetic-spectrum-of-696-patients-with-combined-immunode%C3%AF-ciency
#17
Hassan Abolhassani, Janet Chou, Wayne Bainter, Craig Platt, Mahmood Tavassoli, Toba Momen, Marzieh Tavakol, Mohammad Hossein Eslamian, Mohammad Gharagozlou, Masoud Movahedi, Mohsen Ghadami, Amir Ali Hamidieh, Gholamreza Azizi, Reza Yazdani, Mohsen Afarideh, Alireza Ghajar, Arash Havaei, Zahra Chavoushzadeh, Seyed Alireza Mahdaviani, Taher Cheraghi, Nasrin Behniafard, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Najmeddin Kalantari, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Abbas Dabbaghzadeh, Afshin Shirkani, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Javad Tafaroji, Abbas Khalili, Javad Mohammadi, Babak Negahdari, Mohammad-Taghi Joghataei, Basel K Al-Ramadi, Capucine Picard, Nima Parvaneh, Nima Rezaei, Talal Chatila, Michel J Massaad, Sevgi Keles, Lennart Hammarström, Raif S Geha, Asghar Aghamohammadi
BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of CID patients in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and non-syndromic CIDs (352 patients)...
September 12, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28915826/acupuncture-lowering-blood-pressure-for-secondary-prevention-of-stroke-a-study-protocol-for-a-multicenter-randomized-controlled-trial
#18
Yu-Zheng Du, Xin-Xin Gao, Cheng-Ting Wang, Hai-Zhen Zheng, Yun Lei, Meng-Han Wu, Xue-Min Shi, Hai-Peng Ban, Wen-Long Gu, Xiang-Gang Meng, Mao-Ti Wei, Chun-Xiao Hu
BACKGROUND: Stroke is the prime cause of morbidity and mortality in the general population, and hypertension will increase the recurrence and mortality of stroke. We report a protocol of a pragmatic randomized controlled trial (RCT) using blood pressure (BP)-lowering acupuncture add-on treatment to treat patients with hypertension and stroke. METHODS: This is a large-scale, multicenter, subject-, assessor- and analyst-blinded, pragmatic RCT. A total of 480 patients with hypertension and ischemic stroke will be randomly assigned to two groups: an experimental group and a control group...
September 15, 2017: Trials
https://www.readbyqxmd.com/read/28914850/-correction-of-small-bowel-function-as-a-new-direction-for-treating-patients-with-metabolic-syndrome
#19
Ya M Vakhrushev, M V Lyapina
AIM: To provide a rationale for and to evaluate the therapeutic efficiency of the combined use of pancreatic enzymes and actovegin in the combination therapy of patients with metabolic syndrome (MS) on the basis of comprehensive clinical and functional studies of the small bowel (SB). SUBJECTS AND METHODS: In the course of treatment, 120 patients with MS (verified using the diagnostic criteria elaborated by the All-Russian Research Society of Cardiology (2009)) underwent a comprehensive study of SB function: an isolated study of resorptive processes; evaluation of parietal and cavitary digestion, motor-evacuation function...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28914736/update-on-tauopathies
#20
Thibaud Lebouvier, Florence Pasquier, Luc Buée
PURPOSE OF REVIEW: The purpose of this review is to provide an update on the role of tau beyond the stabilization of microtubules and on the clinical, pathological, diagnostic and therapeutic aspects of tauopathies. RECENT FINDINGS: Beyond its function as a microtubule-associated tau protein, tau is also involved in gene regulation, signal transduction and metabolism. Experimental models allow for the development of new diagnostic and therapeutic tools. Tauopathies encompass different disorders that may manifest with various clinical syndromes...
September 13, 2017: Current Opinion in Neurology
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