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https://www.readbyqxmd.com/read/28315874/multiple-drug-hypersensitivity
#1
Werner J Pichler, Yuttana Srinoulprasert, James Yun, Oliver Hausmann
Multiple drug hypersensitivity (MDH) is a syndrome that develops as a consequence of massive T-cell stimulations and is characterized by long-lasting drug hypersensitivity reactions (DHR) to different drugs. The initial symptoms are mostly severe exanthems or drug rash with eosinophilia and systemic symptoms (DRESS). Subsequent symptoms due to another drug often appear in the following weeks, overlapping with the first DHR, or months to years later after resolution of the initial presentation. The second DHR includes exanthema, erythroderma, DRESS, Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN), hepatitis, and agranulocytosis...
March 18, 2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28314085/targeted-next-generation-sequencing-and-identification-of-risk-factors-in-world-health-organization-defined-atypical-chronic-myeloid-leukemia
#2
Mrinal M Patnaik, Daniela Barraco, Terra L Lasho, Christy M Finke, Kaaren Reichard, Katherine P Hoversten, Rhett P Ketterling, Naseema Gangat, Ayalew Tefferi
Atypical chronic myeloid leukemia (aCML) is an aggressive myeloid neoplasm with overlapping features of myelodysplastic syndromes (prominent granulocytic dysplasia) and myeloproliferative neoplasms (neutrophilic leukocytosis). We studied 25 molecularly-annotated and World Health Organization defined aCML patients; median age 70 years, 84% males. Cytogenetic abnormalities were seen in 36% and gene mutations in 100%. Mutational frequencies were, ASXL1 28%, TET2 16%, NRAS 16%, SETBP1 12%, RUNX1 12%, ETNK1 8% and PTPN11 4%...
March 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28306229/the-2017-international-classification-of-the-ehlers-danlos-syndromes
#3
Fransiska Malfait, Clair Francomano, Peter Byers, John Belmont, Britta Berglund, James Black, Lara Bloom, Jessica M Bowen, Angela F Brady, Nigel P Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel-Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan Hakim, Xavier Jeunemaitre, Diana Johnson, Birgit Juul-Kristensen, Ines Kapferer-Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E Lavallee, Howard Levy, Roberto Mendoza-Londono, Melanie Pepin, F Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda J Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad Tinkle
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#4
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28303641/myalgic-encephalomyelitis-chronic-fatigue-syndrome-and-gulf-war-illness-patients-exhibit-increased-humoral-responses-to-the-herpesviruses-encoded-dutpase-implications-in-disease-pathophysiology
#5
Peter Halpin, Marshall Vance Williams, Nancy G Klimas, Mary Ann Fletcher, Zachary Barnes, Maria Eugenia Ariza
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Gulf War Illness (GWI) are debilitating diseases with overlapping symptomology and there are currently no validated tests for definitive diagnosis of either syndrome. While there is evidence supporting the premise that some herpesviruses may act as possible triggers of ME/CFS, the involvement of herpesviruses in the pathophysiology of GWI has not been studied in spite of a higher prevalence of ME/CFS in these patients. We have previously demonstrated that the deoxyuridine triphosphate nucleotidohydrolases (dUTPase) encoded by Epstein-Barr virus (EBV), human herpesvirus-6 (HHV-6), and varicella-zoster virus (VZV) possess novel functions in innate and adaptive immunity...
March 17, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28299676/bioresorbable-scaffolds-for-coronary-stenosis-when-and-how-based-upon-current-studies
#6
REVIEW
Alexandre Abizaid, J Ribamar Costa
PURPOSE OF REVIEW: First-generation bioresorbable scaffolds (BRS), largely represented by the poly-l-lactic acid (PLLA) ABSORB (Abbott Vascular, Temecula, Illinois, US), have demonstrated, in low to moderate lesion complexity, similar efficacy to current generation metallic drug-eluting stents. However, a trend toward more device thrombosis has been observed, especially when the scaffolds are used in off-label situations. In this review, we address the most relevant drawbacks of these devices and, based on the available scientific data, we visit the scenarios where there is more uncertainty about their indication, trying to identify the lesions/patients to whom this technology should be voided at its current stage of development...
March 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#7
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28299346/serum-cytokine-levels-and-their-relation-to-clinical-features-in-patients-with-autoimmune-liver-diseases
#8
Dilyara Akberova, Andrei P Kiassov, Diana Abdulganieva
Serum cytokine levels were explored in a combined group of patients with autoimmune liver diseases (AILDs) and separately in patients with autoimmune hepatitis (AIH) and overlap syndrome. Overall, 60 patients with AILD, among them 32 patients with AIH and 28 patients with overlap syndrome, were included in the cross-sectional study. Serum cytokine levels were measured at baseline and compared to those of 21 healthy controls. Patients with AILD had significantly higher levels of IL-6 (0.70 (range 0.17-99.86) in patients with AILD compared to 0...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28296274/relevance-of-clinical-and-autoantibody-profiles-in-systemic-sclerosis-among-thais
#9
Chingching Foocharoen, Piyakarn Watcharenwong, Sittichai Netwijitpan, Ajanee Mahakkanukrauh, Siraphop Suwannaroj, Ratanavadee Nanagara
OBJECTIVE: Autoantibody profiles in systemic sclerosis (SSc) and their relative clinical association vary between studies. The rate for being anti-topoisomerase-I (ATA) positive and the association with diffuse cutaneous the SSc subset (dcSSc) is higher among Thais than among Caucasians. The objective was to evaluate the relevance of clinical presentation, namely being positive for one or more autoantibodies among Thai SSc patients. METHOD: A retrospective, cohort study was performed among SSc patients over 18 years of age at Srinagarind Hospital, Khon Kaen University, Thailand, during January 2006 to December 2013...
March 10, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28295895/rome-iii-functional-dyspepsia-symptoms-classification-severity-vs-frequency
#10
F Carbone, L Holvoet, T Vanuytsel, J Tack
BACKGROUND: The Rome III criteria subdivide functional dyspepsia (FD) in the epigastric pain syndrome (EPS) and the postprandial distress syndrome (PDS) based on the frequency of the symptoms to optimize the diagnostic and therapeutic approach. However, it is unclear to which extent the frequency of the symptoms is related to their severity. Our aim was to explore the frequency and severity of dyspeptic symptoms and their relationship in FD patients. METHODS: Functional dyspepsia patients fulfilling the Rome III diagnostic completed a questionnaire that evaluated the frequency and severity of FD symptoms...
March 13, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28295837/compromised-hippocampus-striatum-pathway-as-a-potential-imaging-biomarker-of-mild-traumatic-brain-injury-and-posttraumatic-stress-disorder
#11
D Rangaprakash, Gopikrishna Deshpande, Thomas A Daniel, Adam M Goodman, Jennifer L Robinson, Nouha Salibi, Jeffrey S Katz, Thomas S Denney, Michael N Dretsch
OBJECTIVES: Military service members risk acquiring posttraumatic stress disorder (PTSD) and mild-traumatic brain injury (mTBI), with high comorbidity. Owing to overlapping symptomatology in chronic mTBI or postconcussion syndrome (PCS) and PTSD, it is difficult to assess the etiology of a patient's condition without objective measures. Using resting-state functional MRI in a novel framework, we tested the hypothesis that their neural signatures are characterized by functionally hyperconnected brain regions which are less variable over time...
March 15, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28291807/the-meckel-syndrome-associated-protein-mks1-functionally-interacts-with-components-of-the-bbsome-and-ift-complexes-to-mediate-ciliary-trafficking-and-hedgehog-signaling
#12
Sarah C Goetz, Fiona Bangs, Chloe L Barrington, Nicholas Katsanis, Kathryn V Anderson
The importance of primary cilia in human health is underscored by the link between ciliary dysfunction and a group of primarily recessive genetic disorders with overlapping clinical features, now known as ciliopathies. Many of the proteins encoded by ciliopathy-associated genes are components of a handful of multi-protein complexes important for the transport of cargo to the basal body and/or into the cilium. A key question is whether different complexes cooperate in cilia formation, and whether they participate in cilium assembly in conjunction with intraflagellar transport (IFT) proteins...
2017: PloS One
https://www.readbyqxmd.com/read/28288024/3q27-3-microdeletion-syndrome-further-delineation-of-the-second-region-of-overlap-and-atopic-dermatitis-as-a-phenotypic-feature
#13
Rosalyn Jewell, Bennett Eng, Andrea Coates, Sarah Hewitt, Emma Hobson
No abstract text is available yet for this article.
March 10, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28285769/mutations-in-the-spliceosome-component-cwc27-cause-retinal-degeneration-with-or-without-additional-developmental-anomalies
#14
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel A Lopez-Martinez, Liliana F Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda-Sanchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T Soens, Lizhu Yang, Christine Bole-Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E Cheetham, Stanislas Lyonnet, Smriti A Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F Schorderet
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms...
March 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28285251/neurodevelopmental-disorders-in-young-violent-offenders-overlap-and-background-characteristics
#15
Eva Billstedt, Henrik Anckarsäter, Märta Wallinius, Björn Hofvander
Neurodevelopmental disorders (Attention-Deficit/Hyperactivity Disorder (ADHD), Autism Spectrum Disorder (ASD), tic disorder, intellectual disability (ID)), in prison populations have received increased attention but the focus has generally been on one single condition leaving out the global picture. This study assessed the prevalence and overlap of neurodevelopmental disorders (NDD) in a consecutive cohort (n=270) of young adult male offenders (age 18-25 years), sentenced for "hands-on" violent offences and serving prison time in Swedish prisons...
March 6, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28284529/asthma-chronic-obstructive-pulmonary-disease-overlap-syndrome-what-we-know-and-what-we-need-to-find-out
#16
Mauli Desai, John Oppenheimer, Donald P Tashkin
No abstract text is available yet for this article.
March 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28283854/management-of-the-asthma-copd-overlap-syndrome-acos-a-review-of-the-evidence
#17
REVIEW
Kristin L Hines, R Stokes Peebles
PURPOSE OF REVIEW: Examine the definition of the asthma-COPD overlap syndrome (ACOS) and current treatment strategies. RECENT FINDINGS: Patients with the ACOS have a lower quality of life and suffer from more complications than those affected by either disease alone. Diagnosis of ACOS is difficult because of the clinical similarities between the two diseases and the various phenotypes that comprise the syndrome. Defining treatment strategies for ACOS has been challenging because many clinical trials for asthma therapy have purposefully excluded patients with features of COPD, and COPD clinical trials have not included patients who might have an asthmatic component to their disease...
March 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#18
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28283595/astroglial-activation-and-altered-amyloid-metabolism-in-human-repetitive-concussion
#19
Pashtun Shahim, Yelverton Tegner, Niklas Marklund, Kina Höglund, Erik Portelius, David L Brody, Kaj Blennow, Henrik Zetterberg
OBJECTIVE: To determine whether postconcussion syndrome (PCS) due to repetitive concussive traumatic brain injury (rcTBI) is associated with CSF biomarker evidence of astroglial activation, amyloid deposition, and blood-brain barrier (BBB) impairment. METHODS: A total of 47 participants (28 professional athletes with PCS and 19 controls) were assessed with lumbar puncture (median 1.5 years, range 0.25-12 years after last concussion), standard MRI of the brain, and Rivermead Post-Concussion Symptoms Questionnaire (RPQ)...
March 10, 2017: Neurology
https://www.readbyqxmd.com/read/28282995/understanding-copd-overlap-syndromes
#20
Tuang Yeow Poh, Micheál Mac Aogáin, Adrian Kwok Wai Chan, Anthony Chau Ang Yii, Valerie Fei Lee Yong, Pei Yee Tiew, Mariko Siyue Koh, Sanjay Haresh Chotirmall
Chronic obstructive pulmonary disease accounts for a large burden of lung disease. It can 'overlap' with other respiratory diseases including bronchiectasis, fibrosis and obstructive sleep apnea (OSA). While COPD alone confers morbidity and mortality, common features with contrasting clinical outcomes can occur in COPD 'overlap syndromes'. Areas Covered: Given the large degree of heterogeneity in COPD, individual variation to treatment is adopted based on its observed phenotype, which in turn overlaps with features of other respiratory disease states such as asthma...
March 10, 2017: Expert Review of Respiratory Medicine
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