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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28644176/conn-syndrome-presenting-as-central-retinal-vein-occlusion
#12
Alp Atik, Dennis Wilson, Rohan W Essex
PURPOSE: To describe a case of central retinal vein occlusion in a young patient presenting with symptomatic malignant hypertension because of Conn syndrome. METHODS: Single interventional case report. RESULTS: A 44-year-old man presented with a 1-day history of headache and vision loss in his right eye on a background of malignant hypertension. He was diagnosed with right central retinal vein occlusion. Further investigation of his malignant hypertension revealed Conn syndrome because of an aldosterone-secreting adenoma in the left adrenal gland...
June 20, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28639958/pediatric-jellyfish-envenomation-in-the-mediterranean-sea
#13
Miguel Glatstein, Dikla Adir, Bella Galil, Dennis Scolnik, Ayelet Rimon, Dikla Pivko-Levy, Christopher Hoyte
BACKGROUND: Several species of jellyfish native to the western Indian Ocean have entered the Mediterranean Sea through the Suez Canal. Since the late 1980s, each summer Rhopilema nomadica forms swarms as long as 100 km in the southeastern Levant and since the millennium aggregations of additional nonnative jellyfish have been sighted. The aim of this study was to evaluate children seen in the emergency department after jellyfish envenomations and to establish patterns of toxicity associated with this organism...
June 20, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28629678/history-of-electromyography-and-nerve-conduction-studies-a-tribute-to-the-founding-fathers
#14
REVIEW
Mohamed Kazamel, Paula Province Warren
The early development of nerve conduction studies (NCS) and electromyography (EMG) was linked to the discovery of electricity. This relationship had been concluded by observing the effect of applying electricity to the body of an animal and discovering that nerves and muscles themselves could produce electricity. We attempt to review the historical evolution of NCS and EMG over the last three centuries by reviewing the landmark publications of Galvani, Adrian, Denny-Brown, Larrabee, and Lambert. In 1771, Galvani showed that electrical stimulation of animal muscle tissue produced contraction and, thereby, the concept of animal electricity was born...
September 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28625595/dctn1-related-neurodegeneration-perry-syndrome-and-beyond
#15
REVIEW
Takuya Konno, Owen A Ross, Hélio A G Teive, Jarosław Sławek, Dennis W Dickson, Zbigniew K Wszolek
Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150(Glued). Dynactin is a motor protein involved in axonal transport; the p150(Glued) subunit has a critical role in the overall function. Since the discovery of DCTN1 in PS, it has been increasingly recognized that DCTN1 mutations can exhibit more diverse phenotypes than previously thought...
August 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28616317/modifiable-risk-factors-and-the-role-of-driving-pressure-in-acute-respiratory-distress-syndrome
#16
EDITORIAL
Jessica A Keeley, Dennis Y Kim
No abstract text is available yet for this article.
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28598773/beh%C3%A3-et-s-syndrome-and-health-related-quality-of-life-influence-of-symptoms-lifestyle-and-employment-status
#17
Amal A Senusi, Dennis Ola, Jan Mather, John Mather, Farida Fortune
OBJECTIVES: Behçet's syndrome (BS) is a chronic multisystemic disorder. The complex pattern of BS symptoms can effect negatively on patients' quality of life. The aim of this study is to evaluate the influence of BS symptoms, oral health related lifestyles and employment status on Health Related Quality of Life (HRQoL). METHODS: A questionnaire was mailed to a cohort of 641 adult members of the Behçet's Syndrome Society (BSS) and patients attending a Behçet's syndrome centre in the UK...
June 8, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28574876/utility-of-follow-up-dopamine-transporter-spect-with-123i-fp-cit-in-the-diagnostic-workup-of-patients-with-clinically-uncertain-parkinsonian-syndrome
#18
Ivayla Apostolova, Daulat S Taleb, Axel Lipp, Imke Galazky, Dennis Kupitz, Catharina Lange, Marcus R Makowski, Winfried Brenner, Holger Amthauer, Michail Plotkin, Ralph Buchert
PURPOSE: Dopamine transporter SPECT with I-FP-CIT is registered for detection (or exclusion) of nigrostriatal degeneration to support the etiologic classification of parkinsonian syndromes. In case of uncertainty in the interpretation of SPECT findings or unexpected clinical course, follow-up SPECT might be useful. However, the utility of follow-up FP-CIT SPECT has not yet been clarified. METHODS: One hundred forty-one patients (65.1 ± 10.4 years) from 3 sites with follow-up FP-CIT SPECT 22...
August 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28573372/a-survey-of-anatomical-items-relevant-to-the-practice-of-rheumatology-pelvis-lower-extremity-and-gait
#19
Cristina Hernández-Díaz, José Alvarez-Nemegyei, José Eduardo Navarro-Zarza, Pablo Villaseñor-Ovies, Robert A Kalish, Juan J Canoso, Angélica Vargas, Karla Chiapas-Gasca, Joseph J Biundo, Francisco Javier de Toro Santos, Dennis McGonagle, Simon Carette, Miguel Ángel Saavedra
This study aimed to generate a minimum list of structural and functional anatomical items about the pelvis/hip, knee, ankle/foot, gait, and lower limb innervation, which are most relevant to the practice of rheumatology. To determine their perceived relevance to clinical practice, seven members of the Mexican Clinical Anatomy Task Force compiled an initial list of 470 anatomical items. Ten local and international experts according to a 0-10 Likert scale ranked these items. Of the original list, 101 (21.48%) items were considered relevant (global rate >40)...
June 1, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28556449/effects-of-metap2-inhibition-on-hyperphagia-and-body-weight-in-prader-willi-syndrome-a-randomized-double-blind-placebo-controlled-trial
#20
Shawn E McCandless, Jack A Yanovski, Jennifer Miller, Cary Fu, Lynne M Bird, Parisa Salehi, Christine L Chan, Diane Stafford, M Jennifer Abuzzahab, David Viskochil, Sarah E Barlow, Moris Angulo, Susan E Myers, Barbara Y Whitman, Dennis Styne, Elizabeth Roof, Elisabeth M Dykens, Ann O Scheimann, Jaret Malloy, Dongliang Zhuang, Kristin Taylor, Thomas E Hughes, Dennis D Kim, Merlin G Butler
AIMS: There are no treatments for the extreme hyperphagia and obesity in Prader-Willi syndrome (PWS). The bestPWS trial assessed the efficacy, safety, and tolerability of the methionine aminopeptidase 2 (MetAP2) inhibitor, beloranib. MATERIALS AND METHODS: Participants with PWS (12-65 years) were randomly assigned (1:1:1) to biweekly placebo, 1.8 mg beloranib, or 2.4 mg beloranib injection for 26 weeks at 15 US sites. Coprimary endpoints were the changes in hyperphagia (measured by Hyperphagia Questionnaire for Clinical Trials [HQ-CT]; possible score 0-36) and weight by intention-to-treat...
May 29, 2017: Diabetes, Obesity & Metabolism
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