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https://www.readbyqxmd.com/read/29898974/practice-guideline-update-summary-efficacy-and-tolerability-of-the-new-antiepileptic-drugs-ii-treatment-resistant-epilepsy-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american
#1
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Forty-two articles were included. RECOMMENDATIONS: The following are established as effective to reduce seizure frequency (Level A): immediate-release pregabalin and perampanel for TR adult focal epilepsy (TRAFE); vigabatrin for TRAFE (not first-line treatment); rufinamide for Lennox-Gastaut syndrome (LGS) (add-on therapy)...
June 13, 2018: Neurology
https://www.readbyqxmd.com/read/29898754/metformin-inhibits-stromal-aromatase-expression-and-tumor-progression-in-a-rodent-model-of-postmenopausal-breast-cancer
#2
Erin D Giles, Sonali Jindal, Elizabeth A Wellberg, Troy Schedin, Steven M Anderson, Ann D Thor, Dean P Edwards, Paul S MacLean, Pepper Schedin
BACKGROUND: Obesity and type II diabetes are linked to increased breast cancer risk in postmenopausal women. Patients treated with the antidiabetic drug metformin for diabetes or metabolic syndrome have reduced breast cancer risk, a greater pathologic complete response to neoadjuvant therapy, and improved breast cancer survival. We hypothesized that metformin may be especially effective when targeted to the menopausal transition, as this is a lifecycle window when weight gain and metabolic syndrome increase, and is also when the risk for obesity-related breast cancer increases...
June 14, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29898472/mucoid-degeneration-of-the-anterior-cruciate-ligament-characterization-of-natural-history-femoral-notch-width-index-and-patient-reported-outcome-measures
#3
Andrew J Hotchen, Charis Demetriou, Dennis Edwards, Joel T K Melton
The presentation and clinical course of mucoid degeneration of the anterior cruciate ligament (MD-ACL) are poorly documented within the literature. Subsequently, it is under-diagnosed and the optimal management strategy remains ill-defined. Here, we characterize the syndrome associated with MD-ACL and compare the natural clinical course with the outcomes of arthroscopic management. Thirty-one patients with radiological features of MD-ACL over a 2-year period had their clinical notes retrospectively reviewed...
June 13, 2018: Journal of Knee Surgery
https://www.readbyqxmd.com/read/29898428/acute-respiratory-distress-syndrome-without-identifiable-risk-factors-a-secondary-analysis-of-the-ards-network-trials
#4
John S Harrington, Edward J Schenck, Clara Oromendia, Augustine M K Choi, Ilias I Siempos
PURPOSE: We examined whether patients with acute respiratory distress syndrome (ARDS) lacking risk factors are enrolled in therapeutic trials and assessed their clinical characteristics and outcomes. METHODS: We performed a secondary analysis of patient-level data pooled from the ARMA, ALVEOLI, FACTT, ALTA and EDEN ARDSNet randomized controlled trials obtained from the Biologic Specimen and Data Repository Information Coordinating Center of the National Heart, Lung and Blood Institute...
June 2, 2018: Journal of Critical Care
https://www.readbyqxmd.com/read/29893223/hip-arthroscopy-versus-best-conservative-care-for-the-treatment-of-femoroacetabular-impingement-syndrome-uk-fashion-a-multicentre-randomised-controlled-trial
#5
Damian R Griffin, Edward J Dickenson, Peter D H Wall, Felix Achana, Jenny L Donovan, James Griffin, Rachel Hobson, Charles E Hutchinson, Marcus Jepson, Nick R Parsons, Stavros Petrou, Alba Realpe, Joanna Smith, Nadine E Foster
BACKGROUND: Femoroacetabular impingement syndrome is an important cause of hip pain in young adults. It can be treated by arthroscopic hip surgery, including reshaping the hip, or with physiotherapist-led conservative care. We aimed to compare the clinical effectiveness of hip arthroscopy with best conservative care. METHODS: UK FASHIoN is a pragmatic, multicentre, assessor-blinded randomised controlled trial, done at 23 National Health Service hospitals in the UK...
June 2, 2018: Lancet
https://www.readbyqxmd.com/read/29891737/reduced-myocardial-flow-reserve-by-positron-emission-tomography-predicts-cardiovascular-events-after-cardiac-transplantation
#6
Matthew C Konerman, John J Lazarus, Richard L Weinberg, Ravi V Shah, Michael Ghannam, Scott L Hummel, James R Corbett, Edward P Ficaro, Keith D Aaronson, Monica M Colvin, Todd M Koelling, Venkatesh L Murthy
BACKGROUND: We evaluated the diagnostic and prognostic value of quantification of myocardial flow reserve (MFR) with positron emission tomography (PET) in orthotopic heart transplant patients. METHODS AND RESULTS: We retrospectively identified orthotopic heart transplant patients who underwent rubidium-82 cardiac PET imaging. The primary outcome was the composite of cardiovascular death, acute coronary syndrome, coronary revascularization, and heart failure hospitalization...
June 2018: Circulation. Heart Failure
https://www.readbyqxmd.com/read/29891725/pembrolizumab-exposure-response-assessments-challenged-by-association-of-cancer-cachexia-and-catabolic-clearance
#7
David Turner, Anna G Kondic, Keaven M Anderson, Andrew Robinson, Edward B Garon, Jonathan W Riess, Lokesh Jain, Kapil Mayawala, Jiannan Kang, Scot W Ebbinghaus, Vikram Sinha, Dinesh P de Alwis, Julie A Stone
PURPOSE: To investigate the relationship of pembrolizumab pharmacokinetics (PK) and overall survival (OS) in patients with advanced melanoma and non-small cell carcinoma (NSCLC). EXPERIMENTAL DESIGN: PK dependencies in OS were evaluated across three pembrolizumab studies of either 200mg or 2-10 mg/kg Q3W. Kaplan-Meier (K-M) plots of OS, stratified by dose, exposure, and baseline clearance were assessed per indication and study. A Cox Proportional Hazards model was implemented to explore imbalances of typical prognostic factors in high/low NSCLC CL</SPAN>0 <SPAN style="font-family: Arial, sans-serif;"> subgroups...
June 11, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29861804/assessment-of-the-short-term-effectiveness-of-kinesiotaping-and-trigger-points-release-used-in-functional-disorders-of-the-masticatory-muscles
#8
Danuta Lietz-Kijak, Łukasz Kopacz, Roman Ardan, Marta Grzegocka, Edward Kijak
Chronic face pain syndrome is a diagnostic and therapeutic problem for many specialists, and this proves the interdisciplinary and complex nature of this ailment. Physiotherapy is of particular importance in the treatment of pain syndrome in the course of temporomandibular joint functional disorders. In patients with long-term dysfunction of masticatory muscles, the palpation examination can localize trigger points, that is, thickening in the form of nodules in the size of rice grains or peas. Latent trigger points located in the muscles can interfere with muscular movement patterns, cause cramps, and reduce muscle strength...
2018: Pain Research & Management: the Journal of the Canadian Pain Society
https://www.readbyqxmd.com/read/29861108/de-novo-and-inherited-loss-of-function-variants-in-tlk2-clinical-and-genotype-phenotype-evaluation-of-a-distinct-neurodevelopmental-disorder
#9
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, Jacqueline A C Goos, Melissa M Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B A de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A L Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward M Blair, Hartmut Engels, Hermann-Josef Lüdecke, Jacqueline Eason, Gijs W E Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M Nugent, Kirsten Cremer, Tim M Strom, Lynne M Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L Harline, Merel Klaassens, Michelle Steinraths, Nicola S Cooper, Patrick Edery, Patrick Yap, Paulien A Terhal, Peter J van der Spek, Phillis Lakeman, Rachel L Taylor, Rebecca O Littlejohn, Rolph Pfundt, Saadet Mercimek-Andrews, Alexander P A Stegmann, Sarina G Kant, Scott McLean, Shelagh Joss, Sigrid M A Swagemakers, Sofia Douzgou, Steven A Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J McGowan, Stephen R F Twigg, Irene M J Mathijssen, Christoffer Nellaker, Han G Brunner, Andrew O M Wilkie
Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%)...
May 22, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29804695/the-parallelogram-effect-the-association-between-central-band-and-positive-ulnar-variance
#10
Jorge L Orbay, Fernando Levaro-Pano, Lauren L Vernon, Michael H Cronin, Jorge A Orbay, Edward J Tremols
PURPOSE: Ulnar impaction syndrome is a poorly understood degenerative wrist condition characterized by symptoms of pain thought to be caused by increased loads between the ulnar head and the carpals. Radiographic evaluation often reveals an ulnar-positive wrist. We hypothesize that progressive elongation of the central band of the forearm interosseous ligaments changes the longitudinal radial-ulnar relationships, resulting in an ulnar-positive wrist. The objective of the study was to identify a relationship between the loss of integrity of the forearm interosseous ligaments and increased ulnar variance...
May 24, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29801913/progressive-spasticity-supranuclear-gaze-palsy-and-postural-instability-without-parkinsonism-what-s-in-a-phenotype
#11
L Ricciardi, M J Edwards, A Fasano, K P Bhatia, M Stamelou
We present a series of patients with vertical supranuclear gaze palsy, postural instability with falls, and progressive spasticity, who mimic Progressive Supranuclear Palsy - Richardson's syndrome (PSP-R) but have no parkinsonism, and in whom dopamine transporter imaging is normal. We suggest possible aetiologies for this constellation of symptoms, discuss the possible origin of these signs and highlight this phenotype as it may mimic atypical parkinsonism and in particular PSP.
July 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29795796/cd8-t-cell-memory-increases-immunopathology-in-the-perforin-deficient-model-of-hemophagocytic-lymphohistiocytosis-secondary-to-tnf-%C3%AE
#12
Matthew D Taylor, Thomas N Burn, E John Wherry, Edward M Behrens
Familial hemophagocytic lymphohistiocytosis 2 (FHL2) is a cytokine storm syndrome characterized by immune hyperactivation with viral infection due to a CD8 T cell cytotoxic killing defect secondary to a perforin deficiency. As most studies of FHL2 mice have used pathogen naïve animals, the effects of immune memory on FHL2 are understudied. We utilized an immunization model of the perforin-deficient mouse to study the effects of immune memory on FHL2. Prior CD8 T cell specific antigen exposure leads to enhanced HLH disease with increased morbidity and decreased time to mortality...
February 2018: ImmunoHorizons
https://www.readbyqxmd.com/read/29791480/complex-interactions-in-a-novel-scn5a-compound-mutation-associated-with-long-qt-and-brugada-syndrome-implications-for-na-channel-blocking-pharmacotherapy-for-de-novo-conduction-disease
#13
Jie Liu, Jason D Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, Michael Gollob, Edward J Vigmond, Robert Tsushima, Peter H Backx, Vijay S Chauhan
BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine. OBJECTIVE: We characterized the biophysical properties of P1332L, A647D and wild-type (WT) Na+ channels as well as their combinations in order to understand our proband's phenotype and to guide mexilitine therapy...
2018: PloS One
https://www.readbyqxmd.com/read/29779439/descriptive-phenotype-of-obsessive-compulsive-symptoms-in-males-with-duchenne-muscular-dystrophy
#14
Angela J Lee, Edward T Buckingham, Aaron J Kauer, Katherine D Mathews
Increased rates of clinically significant internalizing disorders (obsessive compulsive disorder, anxiety, and depression) have been demonstrated in males with Duchenne muscular dystrophy, and a Duchenne muscular dystrophy neuropsychiatric syndrome has been suggested. Although symptoms of depression are widely recognized, some of the other internalizing symptoms are less frequently identified. Through a retrospective chart review of 107 males with Duchenne muscular dystrophy, we identified 15 patients with obsessive compulsive disorder spectrum symptoms; 11 of those also had anxiety symptoms...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29772784/capsaicin-in-metabolic-syndrome
#15
REVIEW
Sunil K Panchal, Edward Bliss, Lindsay Brown
Capsaicin, the major active constituent of chilli, is an agonist on transient receptor potential vanilloid channel 1 (TRPV1). TRPV1 is present on many metabolically active tissues, making it a potentially relevant target for metabolic interventions. Insulin resistance and obesity, being the major components of metabolic syndrome, increase the risk for the development of cardiovascular disease, type 2 diabetes, and non-alcoholic fatty liver disease. In vitro and pre-clinical studies have established the effectiveness of low-dose dietary capsaicin in attenuating metabolic disorders...
May 17, 2018: Nutrients
https://www.readbyqxmd.com/read/29770057/aids-in-canada-surveillance-report-2016
#16
L Jonah, A C Bourgeois, M Edmunds, A Awan, O Varsaneux, W Siu
Background: Although there continues to be a global epidemic of people living with human immunodeficiency virus (HIV) there has been a decrease in the number of people dying of acquired immunodeficiency syndrome (AIDS), largely due to successful treatment with antiretroviral therapy. Objective: To provide a descriptive overview of the reported cases of AIDS in Canada by identifying trends by geographic location, sex, age group and mortality. While the descriptive analysis focuses on the year 2016, results are presented for reported cases from the beginning of national AIDS surveillance in 1979...
December 7, 2017: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29759541/the-phenotypic-spectrum-of-a-mutation-hotspot-responsible-for-the-short-qt-syndrome
#17
Dan Hu, Yang Li, Jiancheng Zhang, Ryan Pfeiffer, Michael H Gollob, Jeff Healey, Daniel Toshio Harrell, Naomasa Makita, Haruhiko Abe, Yaxun Sun, Jihong Guo, Li Zhang, Ganxin Yan, Douglas Mah, Edward P Walsh, Harris B Leopold, Carla Giustetto, Fiorenzo Gaita, Agnieszka Zienciuk-Krajka, Andrea Mazzanti, Silvia G Priori, Charles Antzelevitch, Hector Barajas-Martinez
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). METHODS: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wild-type (WT) and mutant genes were transiently expressed in HEK293 cells, and currents were recorded using whole-cell patch clamp and action potential (AP) clamp techniques...
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29753960/effect-of-obesity-on-biodistribution-of-nanoparticles
#18
Claudiana de Jesus Felismino, Edward Helal-Neto, Filipe Leal Portilho, Suyene Rocha Pinto, Félix Sancenón, Ramón Martínez-Máñez, Agatha de Assis Ferreira, Simone Vargas da Silva, Thereza Christina Barja-Fidalgo, Ralph Santos-Oliveira
Nanoparticles have specific features (lipophilicity, surface charge, composition and size). Studies regarding the biological behavior of nanoparticles in diseases such diabetics and obesity are scarce. Here, we evaluated two nanoparticles: magnetic core mesoporous silica (MSN) (58 nm) and polycaprolactone (PCL) nanoparticle (280 nm) in obese mice. Changes in the biodistribution were observed, especially considering the mononuclear phagocyte system (MPS), and the visceral fat tissue. Nonetheless, our data corroborates the influence of size in the biodistribution in obese animals, supporting that smaller nanoparticles, may show a higher tissue deposition at spleen, due the associated splenomegaly and the complications arising from this state...
May 10, 2018: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/29742391/loss-of-mecp2-leads-to-activation-of-p53-and-neuronal-senescence
#19
Minori Ohashi, Elena Korsakova, Denise Allen, Peiyee Lee, Kai Fu, Benni S Vargas, Jessica Cinkornpumin, Carlos Salas, Jenny C Park, Igal Germanguz, Justin Langerman, Contantinos Chronis, Edward Kuoy, Stephen Tran, Xinshu Xiao, Matteo Pellegrini, Kathrin Plath, William E Lowry
To determine the role for mutations of MECP2 in Rett syndrome, we generated isogenic lines of human induced pluripotent stem cells, neural progenitor cells, and neurons from patient fibroblasts with and without MECP2 expression in an attempt to recapitulate disease phenotypes in vitro. Molecular profiling uncovered neuronal-specific gene expression changes, including induction of a senescence-associated secretory phenotype (SASP) program. Patient-derived neurons made without MECP2 showed signs of stress, including induction of P53, and senescence...
May 8, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29741215/role-of-dotatate-pet-ct-in-preoperative-assessment-of-phaeochromocytoma-and-paragangliomas
#20
Matti L Gild, Nikita Naik, Jeremy Hoang, Edward Hsiao, Rachel T McGrath, Mark Sywak, Stan Sidhu, Leigh Walter Delbridge, Bruce Gregory Robinson, Geoff Schembri, Roderick John Clifton-Bligh
CONTEXT: Diagnosis of paragangliomas (PGL) and phaeochromocytomas (PC) can be challenging particularly if the tumour is small. Detection of metastatic disease is important for comprehensive management of malignant PC/PGL. Somatostatin receptor imaging (SRI) agents have high sensitivity for these tumours, particularly the DOTA family of radiopharmaceuticals labelled with 68 Gallium. OBJECTIVE: To describe the utility of SRI in primary assessment (ie before surgery) for PC/PGL and whether measures of maximum standardized uptake (SUVmax) could be used to distinguish between adrenal adenomas and PCs...
May 9, 2018: Clinical Endocrinology
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