keyword
MENU ▼
Read by QxMD icon Read
search

Dennys syndrome

keyword
https://www.readbyqxmd.com/read/28923927/mif-and-d-dt-are-potential-disease-severity-modifiers-in-male-ms-subjects
#1
Gil Benedek, Roberto Meza-Romero, Kelley Jordan, Ying Zhang, Ha Nguyen, Gail Kent, Jia Li, Edwin Siu, Jenny Frazer, Marta Piecychna, Xin Du, Antoine Sreih, Lin Leng, Jack Wiedrick, Stacy J Caillier, Halina Offner, Jorge R Oksenberg, Vijayshree Yadav, Dennis Bourdette, Richard Bucala, Arthur A Vandenbark
Little is known about mechanisms that drive the development of progressive multiple sclerosis (MS), although inflammatory factors, such as macrophage migration inhibitory factor (MIF), its homolog D-dopachrome tautomerase (D-DT), and their common receptor CD74 may contribute to disease worsening. Our findings demonstrate elevated MIF and D-DT levels in males with progressive disease compared with relapsing-remitting males (RRMS) and female MS subjects, with increased levels of CD74 in females vs. males with high MS disease severity...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28919580/concomitant-obesity-and-metabolic-syndrome-add-to-the-atrial-arrhythmogenic-phenotype-in-male-hypertensive-rats
#2
Mathias Hohl, Dennis H Lau, Andreas Müller, Adrian D Elliott, Benedikt Linz, Rajiv Mahajan, Jeroen M L Hendriks, Michael Böhm, Ulrich Schotten, Prashanthan Sanders, Dominik Linz
BACKGROUND: Besides hypertension, obesity and the metabolic syndrome have recently emerged as risk factors for atrial fibrillation. This study sought to delineate the development of an arrhythmogenic substrate for atrial fibrillation in hypertension with and without concomitant obesity and metabolic syndrome. METHODS AND RESULTS: We compared obese spontaneously hypertensive rats (SHR-obese, n=7-10) with lean hypertensive controls (SHR-lean, n=7-10) and normotensive rats (n=7-10)...
September 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28912173/secondary-malignant-neoplasms-progression-free-survival-and-overall-survival-in-patients-treated-for-hodgkin-lymphoma-a-systematic-review-and-meta-analysis-of-randomized-clinical-trials
#3
Dennis A Eichenauer, Ingrid Becker, Ina Monsef, Nicholas Chadwick, Vitaliana de Sanctis, Massimo Federico, Catherine Fortpied, Alessandro M Gianni, Michel Henry-Amar, Peter Hoskin, Peter Johnson, Stefano Luminari, Monica Bellei, Alessandro Pulsoni, Matthew R Sydes, Pinuccia Valagussa, Simonetta Viviani, Andreas Engert, Jeremy Franklin
Treatment intensification to maximize disease control and reduced-intensity approaches to minimize the risk of late sequelae have been evaluated in newly diagnosed Hodgkin lymphoma. The influence of these interventions on the risk of secondary malignant neoplasms, progression-free survival and overall survival is reported in the present meta-analysis based on individual patient data from 9498 patients treated within 16 randomized controlled trials for newly diagnosed Hodgkin lymphoma between 1984 and 2007. Secondary malignant neoplasms were meta-analyzed using Peto's method as time-to-event outcomes...
September 14, 2017: Haematologica
https://www.readbyqxmd.com/read/28901021/optimisation-of-chemotherapy-and-radiotherapy-for-untreated-hodgkin-lymphoma-patients-with-respect-to-second-malignant-neoplasms-overall-and-progression-free-survival-individual-participant-data-analysis
#4
REVIEW
Jeremy Franklin, Dennis A Eichenauer, Ingrid Becker, Ina Monsef, Andreas Engert
BACKGROUND: Efficacy and the risk of severe late effects have to be well-balanced in treatment of Hodgkin lymphoma (HL). Late adverse effects include secondary malignancies which often have a poor prognosis. To synthesise evidence on the risk of secondary malignancies after current treatment approaches comprising chemotherapy and/or radiotherapy, we performed a meta-analysis based on individual patient data (IPD) from patients treated for newly diagnosed HL. OBJECTIVES: We investigated several questions concerning possible changes in the risk of secondary malignancies when modifying chemotherapy or radiotherapy (omission of radiotherapy, reduction of the radiation field, reduction of the radiation dose, use of fewer chemotherapy cycles, intensification of chemotherapy)...
September 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28872032/atlas-of-electroencephalography-3rd-edition
#5
Ali Akbar Asadi-Pooya, Dennis Dlugos, Christopher Skidmore, Michael R Sperling
Electroencephalography (EEG) is the recording of the electrical activity of the brain. EEG is a reliable test to assess cerebral function. It aids in diagnosis, classification, and management of patients with epilepsy. It also has practical uses in conditions other than epilepsy. Moreover, it is harmless and inexpensive. EEG is an important tool for evaluating patients with epilepsy. It may help classify the syndrome, identify the likely source of focal seizures, and confirm a diagnosis of status epilepticus...
September 5, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28860777/efficacy-and-safety-of-paliperidone-palmitate-three-monthly-formulation-in-east-asian-patients-with-schizophrenia-subgroup-analysis-of-a-global-randomized-double-blind-phase-iii-noninferiority-study
#6
Adam J Savitz, Haiyan Xu, Srihari Gopal, Isaac Nuamah, Paulien Ravenstijn, David Hough, Maju Mathews, Yu Feng, Lu Yu, Masayoshi Takahashi, Dennis Liu, Gang Wang, Jin-Sang Yoon, Jiahn-Jyh Chen
OBJECTIVE: To demonstrate the efficacy and safety of paliperidone palmitate three-monthly (PP3M) formulation in an East Asian population with schizophrenia by subgroup analysis of a double-blind (DB), multicenter, noninferiority study. PATIENTS AND METHODS: Of 1,429 patients who entered the open-label (OL) phase, 510 were East Asian (China: 296 [58%], Japan: 175 [34%], South Korea: 19 [4%] and Taiwan: 20 [4%]). In the 17-week OL phase, patients received paliperidone palmitate once-monthly (PP1M) formulation on day 1 (150 mg eq...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28858182/metabolic-syndrome-and-30-day-outcomes-in-elective-lumbar-spinal-fusion
#7
Andrew S Chung, David Campbell, Robert Waldrop, Dennis Crandall
STUDY DESIGN: Retrospective cohort study OBJECTIVE.: To evaluate the effect of MetS on 30-day morbidity and mortality following elective lumbar spinal fusion SUMMARY OF BACKGROUND DATA.: Metabolic syndrome (MetS) is a variable combination of hypertension, obesity, elevated fasting plasma glucose, and dyslipidemia.MetS has been associated with an increased risk of post-operative morbidity and mortality in multiple surgical settings. To our knowledge, the effect of MetS on 30-day outcomes following elective lumbar spinal fusion has not been well studied...
August 29, 2017: Spine
https://www.readbyqxmd.com/read/28840838/the-role-of-host-immune-cells-and-borrelia-burgdorferi-antigens-in-the-etiology-of-lyme-disease
#8
Dennis Verhaegh, Leo A B Joosten, Marije Oosting
Lyme disease is a zoonosis caused by infection with bacteria belonging to the Borrelia burgdorferi species after the bite of an infected tick. Even though an infection by this bacterium can be effectively treated with antibiotics, when the infection stays unnoticed B. burgdorferi can persist and chronic post-treatment Lyme disease syndrome is able to develop. Although a cellular and humoral response is observed after an infection with the Borrelia bacteria, these pathogens are still capable to stay alive. Several immune evasive mechanisms have been revealed and explained and much work has been put into the understanding of the contribution of the innate and adaptive immune response...
June 1, 2017: European Cytokine Network
https://www.readbyqxmd.com/read/28837586/nampt-serum-levels-are-selectively-elevated-in-acute-infectious-disease-and-in-acute-relapse-of-chronic-inflammatory-diseases-in-children
#9
Julia Gesing, Kathrin Scheuermann, Isabel Viola Wagner, Dennis Löffler, Daniela Friebe, Wieland Kiess, Volker Schuster, Antje Körner
Nicotinamide phosphoribosyl transferase (NAMPT) is an inflammatory adipocytokine shown to interact in immune modulation in chronic inflammatory diseases, acute respiratory distress syndrome, sepsis, cancer and obesity in adulthood. It is, however, not clear whether this association reflects a chronic elevation or acute inflammatory response. We analyzed NAMPT concentrations in distinct states of inflammation in 102 children and found consistently significantly increased NAMPT levels in subjects with acute infections...
2017: PloS One
https://www.readbyqxmd.com/read/28816242/effect-of-the-mglur5-nam-basimglurant-on-behavior-in-adolescents-and-adults-with-fragile-x-syndrome-in-a-randomized-double-blind-placebo-controlled-trial-fragxis-phase-2-results
#10
Eriene A Youssef, Elizabeth Berry-Kravis, Christian Czech, Randi J Hagerman, David Hessl, Chin Y Wong, Michael Rabbia, Dennis Deptula, Amy John, Russell Kinch, Philip Drewitt, Lothar Lindemann, Moritz Marcinowski, Rachel Langland, Carsten Horn, Paulo Fontoura, Luca Santarelli, Jorge A Quiroz
Preclinical data suggests that inhibition of the mGluR5 receptor might hold therapeutic benefits in Fragile X syndrome (FXS). Treatment of Fmr1 knockout mice with mGluR5-negative allosteric modulators (NAMs) has been reported to correct a broad range of phenotypes related to FXS. The early short-term clinical trials with mGluR5 NAMs, including basimglurant, assessing the effects in individuals with FXS, were supportive of further exploration in larger, well-controlled trials. We evaluated basimglurant, a potent and selective mGluR5 NAM, in a 12-week, double-blind, parallel-group study of 183 adults and adolescents (aged 14-50, mean 23...
August 17, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28815893/the-facial-morphology-in-down-syndrome-a-3d-comparison-of-patients-with-and-without-obstructive-sleep-apnea
#11
Yasas S N Jayaratne, Ibrahim Elsharkawi, Eric A Macklin, Lauren Voelz, Gil Weintraub, Dennis Rosen, Brian G Skotko
Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28810980/risk-factors-for-rhabdomyolysis-in-the-u-s-army
#12
Owen T Hill, Dennis E Scofield, Jenna Usedom, Lakmini Bulathsinhala, Craig McKinnon, Paul Kwon, Timothy Haley, Robert Carter
The standardized mortality rate of rhabdomyolysis (RM) in Active Duty U.S. Army Soldiers is considerably higher than in the civilian population. RM occurs when large amounts of intracellular contents from damaged skeletal muscle escape into circulation, leading to serious sequelae (e.g., acute renal failure, hyperkalemia, compartment syndrome). Extended physical exertion, especially in hot environments, and trauma can precipitate RM. The aim of this study was to identify RM risk factors among U.S. Active Duty Army (ADA) Soldiers...
July 2017: Military Medicine
https://www.readbyqxmd.com/read/28805828/mutations-in-keops-complex-genes-cause-nephrotic-syndrome-with-primary-microcephaly
#13
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#14
REVIEW
Angela B Deutschländer, Owen A Ross, Dennis W Dickson, Zbigniew K Wszolek
The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are clinically heterogeneous and show significant phenotypic overlap. Here we review clinical, imaging, neuropathologic and genetic features of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal lobar degeneration (FTLD). The terms CBD and FTLD refer to pathologically confirmed cases of corticobasal syndrome (CBS) and frontotemporal dementia (FTD)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28780565/clinical-genetic-testing-using-a-custom-designed-steroid-resistant-nephrotic-syndrome-gene-panel-analysis-and-recommendations
#15
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs). METHODS: This study reports results of 302 patients referred for SRNS diagnostic gene panel analysis...
August 5, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28780180/neuropathology-of-parkinson-disease
#16
Dennis W Dickson
INTRODUCTION: Parkinson's disease (PD) is characterized by bradykinesia, rigidity, postural instability and tremor. Several pathologic processes can produce this syndrome, but neurodegeneration accompanied by neuronal inclusions composed of α-synuclein (Lewy bodies) is considered the typical pathologic correlate of PD. METHODS: The neuropathologic features of PD are reviewed based upon personal experience and review of the literature. Molecular pathology of PD is summarized from cell biological and animal studies...
August 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28684096/epidemiology-of-atrial-fibrillation-the-australian-and-asia-pacific-perspective
#17
REVIEW
Christopher X Wong, Alex Brown, Hung-Fat Tse, Christine M Albert, Jonathan M Kalman, Thomas H Marwick, Dennis H Lau, Prashanthan Sanders
The epidemic of atrial fibrillation (AF) is increasingly recognised as a growing health problem worldwide. Although epidemiological studies on AF in the Asia-Pacific region are scarce, given the increasing age and size of populations in this region, the burden of AF is expected to be far greater than in North America and Europe. This is not only due to the growing, ageing population but also an increased incidence of risk factors for AF, such as hypertension, obesity, metabolic syndrome and diabetes, in the Asia-Pacific region...
May 24, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28667181/dnm1-encephalopathy-a-new-disease-of-vesicle-fission
#18
Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S Møller, Elizabeth Palmer, John A Lawson, Colleen A Campbell, Charuta N Joshi, Diana L Kolbe, Georgie Hollingsworth, Bernd A Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E Scheffer, Sérgio D J Pena, Sanjay M Sisodiya, Ingo Helbig
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function...
July 25, 2017: Neurology
https://www.readbyqxmd.com/read/28659860/spinocerebellar-ataxia-type-2-is-associated-with-the-extracellular-loss-of-superoxide-dismutase-but-not-catalase-activity
#19
Dennis Almaguer-Gotay, Luis E Almaguer-Mederos, Raul Aguilera-Rodríguez, Roberto Rodríguez-Labrada, Dany Cuello-Almarales, Annelié Estupiñán-Domínguez, Luis C Velázquez-Pérez, Yanetza González-Zaldívar, Yaimé Vázquez-Mojena
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology. AIM: To assess the influence of superoxide dismutase (SOD3) and catalase (CAT) enzymatic activities on the SCA2 syndrome. METHOD: Clinical, molecular, and electrophysiological variables, as well as SOD3 and CAT enzymatic activities were evaluated in 97 SCA2 patients and in 64 age- and sex-matched control individuals...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28651750/reduced-orexin-immunoreactivity-in-perry-syndrome-and-multiple-system-atrophy
#20
Takayasu Mishima, Koji Kasanuki, Shunsuke Koga, Monica Castanedes-Casey, Zbigniew K Wszolek, Yoshio Tsuboi, Dennis W Dickson
INTRODUCTION: Orexin is a neuropeptide that plays a key role in maintaining a state of arousal, and possibly associates with sleep apnea syndrome (SAS). Reduced orexin immunoreactivity has been reported in various neurologic conditions such as narcolepsy, Alzheimer's disease, Lewy body disease and multiple system atrophy (MSA); however, there has been no report investigating orexin in Perry syndrome, a rare hereditary neurodegenerative disease characterized by four clinical cardinal signs (parkinsonism, depression/apathy, weight loss, and central hypoventilation)...
June 12, 2017: Parkinsonism & related Disorders
keyword
keyword
45761
1
2
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"