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https://www.readbyqxmd.com/read/28543983/mutation-of-serine-threonine-protein-kinase-36-stk36-causes-primary-ciliary-dyskinesia-with-a-central-pair-defect
#1
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and central pair (CP) is hallmarked by the absence of laterality defects, subtle beating abnormalities and unequivocally apparent ultrastructural defects of the ciliary axoneme, making their diagnosis challenging...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28536429/a-novel-neutralizing-monoclonal-antibody-targeting-the-n-terminal-domain-of-the-mers-cov-spike-protein
#2
Yingzhu Chen, Shuai Lu, Hao Jia, Yao Deng, Jianfang Zhou, Baoying Huang, Yueyang Yu, Jiaming Lan, Wenling Wang, Yongliang Lou, Kun Qin, Wenjie Tan
Middle East respiratory syndrome coronavirus (MERS-CoV) has caused fatal infections, some through hospital-acquired transmission, in affected regions since its emergence in 2012. Although the virus is not pandemic among humans, it poses a great threat to public health due to its zoonotic origin. Thus, both preventative and therapeutic countermeasures are urgently needed. In this study, we discovered a panel of neutralizing monoclonal antibodies (mAbs) against MERS-CoV, which mapped to a wide range of regions on the spike (S) protein of the virus...
May 24, 2017: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/28529496/treatment-of-the-mal-de-debarquement-syndrome-a-1-year-follow-up
#3
Mingjia Dai, Bernard Cohen, Catherine Cho, Susan Shin, Sergei B Yakushin
The mal de debarquement syndrome (MdDS) is a movement disorder, occurring predominantly in women, is most often induced by passive transport on water or in the air (classic MdDS), or can occur spontaneously. MdDS likely originates in the vestibular system and is unfamiliar to many physicians. The first successful treatment was devised by Dai et al. (1), and over 330 MdDS patients have now been treated. Here, we report the outcomes of 141 patients (122 females and 19 males) treated 1 year or more ago. We examine the patient's rocking frequency, body drifting, and nystagmus...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28526889/the-contribution-of-an-asthma-diagnostic-consultation-service-in-obtaining-an-accurate-asthma-diagnosis-for-primary-care-patients-results-of-a-real-life-study
#4
R M E Gillis, W van Litsenburg, R H van Balkom, J W Muris, F W Smeenk
Previous studies showed that general practitioners have problems in diagnosing asthma accurately, resulting in both under and overdiagnosis. To support general practitioners in their diagnostic process, an asthma diagnostic consultation service was set up. We evaluated the performance of this asthma diagnostic consultation service by analysing the (dis)concordance between the general practitioners working hypotheses and the asthma diagnostic consultation service diagnoses and possible consequences this had on the patients' pharmacotherapy...
May 19, 2017: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/28513611/glaucoma-spectrum-and-age-related-prevalence-of-individuals-with-foxc1-and-pitx2-variants
#5
Emmanuelle Souzeau, Owen M Siggs, Tiger Zhou, Anna Galanopoulos, Trevor Hodson, Deepa Taranath, Richard A Mills, John Landers, John Pater, James E Smith, James E Elder, Julian L Rait, Paul Giles, Vivek Phakey, Sandra E Staffieri, Lisa S Kearns, Andrew Dubowsky, David A Mackey, Alex W Hewitt, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28510641/community-level-football-injury-epidemiology-traumatic-injuries-treated-at-swedish-emergency-medical-facilities
#6
Toomas Timpka, Jan Schyllander, Diana Stark Ekman, Robert Ekman, Örjan Dahlström, Martin Hägglund, Karolina Kristenson, Jenny Jacobsson
Despite the popularity of the sport, few studies have investigated community-level football injury patterns. This study examines football injuries treated at emergency medical facilities using data from three Swedish counties. An open-cohort design was used based on residents aged 0-59 years in three Swedish counties (pop. 645 520). Data were collected from emergency medical facilities in the study counties between 1 January 2007 and 31 December 2010. Injury frequencies and proportions for age groups stratified by sex were calculated with 95% confidence intervals (95% CIs) and displayed per diagnostic group and body location...
May 16, 2017: European Journal of Public Health
https://www.readbyqxmd.com/read/28510119/genetic-epidemiology-of-titin-truncating-variants-in-the-etiology-of-dilated-cardiomyopathy
#7
REVIEW
Ali M Tabish, Valerio Azzimato, Aris Alexiadis, Byambajav Buyandelger, Ralph Knöll
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Over 60 genes are linked to the etiology of DCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28507729/difference-in-clinical-presentation-between-women-and-men-in-incident-primary-sj%C3%A3-gren-s-syndrome
#8
Jorge I Ramírez Sepúlveda, Marika Kvarnström, Susanna Brauner, Chiara Baldini, Marie Wahren-Herlenius
BACKGROUND: A more severe disease phenotype has been reported in men compared to women in several rheumatic diseases. However, studies have not conclusively established sex-related clinical features in primary Sjögren's syndrome (pSS). In this study, we therefore investigated the clinical presentation of pSS in women and men at diagnosis. METHODS: Incident, treatment naïve patients (n = 199) during a 5-year period in a specified area were prospectively included and examined for items of classification criteria for pSS as well as extraglandular manifestations (EGM)...
2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28493039/complications-after-surgical-treatment-of-femoral-neck-fractures-in-men-with-alcohol-dependence-syndrome-retrospective-register-analysis-of-154-cases
#9
Jussi Kosola, Antti Kaipia, Minna K Laitinen, Jyrki Nieminen
PURPOSE: One-third of hip fractures occur in men. The causes underlying hip fractures in men differ from those in women and include alcohol abuse. This retrospective register study evaluated the trends and results associated with different surgical treatment methods for nondisplaced and displaced femoral neck fractures in male patients with alcohol dependence syndrome. METHODS: Men with hip fractures were identified from a local district hospital database. Alcohol dependence syndrome was identified as a diagnosis in medical records...
May 10, 2017: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/28487747/a-predictive-model-for-guillain-barr%C3%A3-syndrome-based-on-single-learning-algorithms
#10
Juana Canul-Reich, Juan Frausto-Solís, José Hernández-Torruco
Background. Guillain-Barré Syndrome (GBS) is a potentially fatal autoimmune neurological disorder. The severity varies among the four main subtypes, named as Acute Inflammatory Demyelinating Polyneuropathy (AIDP), Acute Motor Axonal Neuropathy (AMAN), Acute Motor Sensory Axonal Neuropathy (AMSAN), and Miller-Fisher Syndrome (MF). A proper subtype identification may help to promptly carry out adequate treatment in patients. Method. We perform experiments with 15 single classifiers in two scenarios: four subtypes' classification and One versus All (OvA) classification...
2017: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/28486758/stimulation-of-the-l2-l3-dorsal-root-ganglia-induces-effective-pain-relief-in-the-low-back
#11
Frank Huygen, Liong Liem, William Cusack, Jeffery Kramer
INTRODUCTION: Chronic low back pain affects millions of people worldwide and can arise through a variety of clinical origins. In the case of Failed Back Surgery Syndrome (FBSS), previous surgical procedures can contribute to low back pain that is often unresponsive to intervention. Although spinal cord stimulation can be an effective treatment modality, it does not provide sufficient pain relief for some intractable cases. Recently, alternative neuromodulation options have been developed, including dorsal root ganglion (DRG) stimulation...
May 9, 2017: Pain Practice: the Official Journal of World Institute of Pain
https://www.readbyqxmd.com/read/28484349/one-year-follow-up-of-patients-with-a-diagnosis-of-first-episode-psychosis
#12
Atena Enderami, Fatemeh Sheikh Monesi, Mehran Zarghami
INTRODUCTION: Early diagnosis of symptoms related to psychotic disorders causes hyper responsiveness, recurrence reduction and quality of life improvement. The aim of this study was one-year follow-up of the clinical course and outcomes of hospitalized patients with first episode psychotic disorders and detection of factors affecting consequences. METHODS: This longitudinal descriptive study was conducted during 2012 to 2013 on hospitalized patients at Zare Hospital in Sari, Iran, with any psychotic symptoms and with diagnosis of first episode psychosis...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28473308/sa%C3%A3%C2%BAde-na-copa-the-world-s-first-application-of-participatory-surveillance-for-a-mass-gathering-at-fifa-world-cup-2014-brazil
#13
Onicio Leal Neto, George Santiago Dimech, Marlo Libel, Wayner Vieira de Souza, Eduarda Cesse, Mark Smolinski, Wanderson Oliveira, Jones Albuquerque
BACKGROUND: The 2005 International Health Regulations (IHRs) established parameters for event assessments and notifications that may constitute public health emergencies of international concern. These requirements and parameters opened up space for the use of nonofficial mechanisms (such as websites, blogs, and social networks) and technological improvements of communication that can streamline the detection, monitoring, and response to health problems, and thus reduce damage caused by these problems...
May 4, 2017: JMIR Public Health and Surveillance
https://www.readbyqxmd.com/read/28464318/examination-of-phox2b-in-adult-neuroendocrine-neoplasms-reveals-relatively-frequent-expression-in-pheochromocytomas-and-paragangliomas
#14
John P Lee, Yin P Hung, Thomas M O'Dorisio, James R Howe, Jason L Hornick, Andrew M Bellizzi
AIMS: Paired-like homeobox 2b (PHOX2B) is a transcription factor with expression outside of the central nervous system restricted to neurons and chromaffin cells of the autonomic nervous system. Germline mutations cause congenital central hypoventilation syndrome and predispose to neuroblastoma and Hirschsprung disease. Among pediatric small round cell tumors, PHOX2B is neuroblastoma-specific. Two studies of adult autonomic nervous system tumors (n=62) produced conflicting results (all tumors stained in one; expression was restricted to 40% of paragangliomas in the other)...
May 2, 2017: Histopathology
https://www.readbyqxmd.com/read/28457042/bilateral-anterior-opercular-syndrome
#15
Rohan Sequeira, Sham Kamble, Amol Bhore, Ashwini Ronghe
Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is characterised by paralysis of the facial, masticatory, pharyngeal, laryngeal, brachial and tongue muscles. It is a cortical form of pseudobulbar palsyo which is commonly caused by a vascular aetiology. The clinical presentation is anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional functions of these structures are preserved. We report a case of a 61 year old man who had difficulty in chewing, swallowing and vocalising since one and a half month, which on imaging was found to be opercular syndrome...
February 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28456915/reversible-cerebral-vasoconstriction-syndrome-recognition-and-treatment
#16
REVIEW
Cecilia Cappelen-Smith, Zeljka Calic, Dennis Cordato
Reversible cerebral vasoconstriction syndrome (RCVS) is a rare but increasingly recognized disorder with over 500 cases published in the literature. The condition is characterized by recurrent severe thunderclap headaches with or without other neurological symptoms and diffuse segmental narrowing of the cerebral arteries which is reversible within 3 months. RCVS may occur spontaneously but in over 50% of cases, it is associated with various other conditions, including vasoactive medications or illicit drugs and the post-partum state...
June 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28455101/sip-1-mutations-cause-disturbances-in-the-activity-of-nmda-and-ampa-but-not-kainate-receptors-of-neurons-in-the-cerebral-cortex
#17
Maria V Turovskaya, Alexei A Babaev, Valery P Zinchenko, Ekaterina A Epifanova, Ekaterina V Borisova, Victor S Tarabykin, Egor A Turovsky
Smad-interacting protein-1 (Sip1) [Zinc finger homeobox (Zfhx1b), Zeb2] is a transcription factor implicated in the genesis of Mowat-Wilson syndrome (MWS) in humans. MWS is a rare genetic autosomal dominant disease caused by a mutation in the Sip1 gene (aka Zeb2 or Zfhx1b) mapped to 2q22.3 locus. MWS affects 1 in every 50-100 newborns worldwide. It is characterized by mental retardation, small stature, typical facial abnormalities as well as disturbances in the development of the cardio-vascular and renal systems as well as some other organs...
April 25, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28448162/joblessness-and-lost-earnings-after-ards-in-a-1-year-national-multicenter-study
#18
Biren B Kamdar, Minxuan Huang, Victor D Dinglas, Elizabeth Colantuoni, Till M von Wachter, Ramona O Hopkins, Dale M Needham
RATIONALE: Following acute respiratory distress syndrome (ARDS), joblessness is common, but poorly understood. OBJECTIVES: To evaluate the timing of return to work following ARDS, and associated risk factors, lost earnings, and changes in healthcare coverage Methods: Over 12-month longitudinal follow-up, ARDS survivors from 43 U.S. ARDSNet hospitals provided employment and healthcare coverage data via structured telephone interviews. Factors associated with the timing of return to work were assessed using Fine and Gray regression analysis...
April 27, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28440532/the-assessment-of-cancer-related-fatigue-syndrome-in-patients-with-lung-cancer-during-palliative-chemotherapy
#19
Andrzej Nowicki, Joanna Piekarska, Ewa Farbicka
INTRODUCTION: Cancer-related fatigue is one of the most common problems of patients with lung cancer. The assessment of cancer- -related fatigue is therefore a significant medical problem in patients during treatment with palliative chemotherapy. MATERIAL AND METHODS: The study included 100 patients during palliative chemotherapy because of lung cancer. The study was conducted in the Department of Pulmonary Diseases and Treatment of Lung Cancer in the Kuyavian and Pomeranian Centre of Pulmonology in Bydgoszcz, in the period from February to June 2016...
2017: Advances in Respiratory Medicine
https://www.readbyqxmd.com/read/28427574/acute-noncardiovascular-illness-in-the-cardiac-intensive-care-unit
#20
Eric M Holland, Travis J Moss
BACKGROUND: Fifty years after the inception of the cardiac intensive care unit (CICU), noncardiovascular illnesses have become more prevalent and may contribute to morbidity and mortality. OBJECTIVES: The authors performed multivariate statistical analyses to determine the association of acute noncardiovascular illnesses with outcomes, including length of stay (LOS), mortality, and hospital readmission. METHODS: We studied 1,042 admissions between October 12, 2013 and November 28, 2014 to the CICU at the University of Virginia Health System, a tertiary-care academic medical center...
April 25, 2017: Journal of the American College of Cardiology
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