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Overlap syndrome

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https://www.readbyqxmd.com/read/28448735/in-response-to-parodi-mb-iacono-p-zucchiatti-et-al-choroidal-neovascularization-associated-with-multiple-evanescent-white-dot-syndrome-treated-with-intravitreal-ranibizumab
#1
Thibaud Mathis, Laurent Kodjikian
In response to the article by Parodi et al. about choroidal neovascularization (CNV) associated with Multiple Evanescent White Dot Syndrome (MEWDS) treated with intravitreal Ranibizumab. This article highlights the efficacy of intravitreal Ranibizumab in the treatment of CNV associated with MEWDS. In our experience, CNV is mostly associated with MEWDS in cases of a wider inflammatory spectrum such as overlapping syndrome with multifocal choroiditis (MFC) or punctuate inner choroidopathy (PIC). The whole pattern of the case presented in the article is compatible with the diagnosis of PIC, meaning that this case described an overlapping between MEWDS and PIC diagnoses...
April 27, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28447161/prediction-of-graft-versus-host-disease-a-biomarker-panel-based-on-lymphocytes-and-cytokines
#2
Holger Budde, Susanne Papert, Jens-Holger Maas, Holger M Reichardt, Gerald Wulf, Justin Hasenkamp, Joachim Riggert, Tobias J Legler
Graft-versus-host disease (GvHD) still belongs to the major challenges after allogeneic hematopoietic stem cell transplantation (HSCT). Immune-suppressive therapy against GvHD is a double-edged sword due to risk of infections and relapse. The ability to adapt prophylactic treatment according to the probability of severe GvHD would be an essential advantage for the patients. We analyzed different biomarkers for their potential to predict the development of GvHD in 28 patients who underwent allogeneic HSCT. Blood was taken once directly after hematopoietic engraftment...
April 26, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28447135/-environmental-medical-syndromes
#3
REVIEW
Gerhard A Wiesmüller, Claudia Hornberg
Environmental medical syndromes comprise sick building syndrome (SBS), multiple chemical sensitivity (MCS)/idiopathic environmental intolerances (IEI), electromagnetic hypersensitivity, chronic fatigue syndrome (CFS), burnout, fibromyalgia, and the candida syndrome. There is also some overlap described in the literature. There is still no established knowledge of etiology, pathology, pathophysiology, diagnostics, therapy, prevention and prognosis. These syndromes are thought to result from a complex interaction of physical, chemical and/or (micro)biological environmental stresses, individual dispositions, psychological influencing factors, perceptual and processing processes, variants of somatization disorders, culturally or socially caused distress, or simply iatrogenic causation...
April 26, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28446761/metabolic-syndrome-modulates-association-between-endothelial-lipase-and-lipid-lipoprotein-plasma-levels-in-acute-heart-failure-patients
#4
Ines Potočnjak, Matias Trbušić, Sanda Dokoza Terešak, Bojana Radulović, Gudrun Pregartner, Andrea Berghold, Beate Tiran, Gunther Marsche, Vesna Degoricija, Saša Frank
We hypothesised that the established association of endothelial lipase (EL) plasma levels with atherogenic lipid profile is altered in acute heart failure (AHF) and additionally affected by overlapping metabolic syndrome (MetS). We examined the association of EL plasma levels and lipid/lipoprotein plasma levels in AHF patients without and with overlapping MetS. The study was performed as a single-centre, observational study on 152 AHF patients, out of which 85 had overlapping MetS. In the no-MetS group, EL plasma levels were significantly positively correlated with plasma levels of atherogenic lipids/lipoproteins, including total cholesterol, low-density lipoprotein (LDL)-cholesterol, total LDL particles and triglycerides, but also with plasma levels of antiatherogenic high-density lipoprotein (HDL)-cholesterol, total HDL particles and small HDL particles...
April 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28442874/graham-little-piccardi-syndrome-a-lens-through-beyond-what-is-known
#5
Abhijit Saha, Joly Seth, Anupam Das, Sandipan Dhar
Graham-Little-Piccardi syndrome (GLPS) is a rare form of follicular lichen planus and comprises cicatricial alopecia of the scalp, noncicatricial alopecia of the axillae, and/or pubis and spinous follicular papules involving the trunk and extremities. We herein report a classic case of GLPS in a 49-year-old female. Uniqueness of our case is due to its additional features of frontal fibrosing alopecia (FFA). Although overlap between GLPS and FFA has been mentioned in literature, such numbers are scanty. Therapeutic response with oral steroid and retinoid is also far better in contrast to what is described in the existing literature...
October 2016: International Journal of Trichology
https://www.readbyqxmd.com/read/28442310/copd-osa-overlap-syndrome-evolving-evidence-regarding-epidemiology-clinical-consequences-and-management
#6
REVIEW
Walter T McNicholas
Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea syndrome (OSA) are both highly prevalent, which implies that both disorders occurring together (overlap syndrome) is likely to be common based on chance association alone. However, different clinical COPD phenotypes influence the likelihood of co-existing OSA in that the increased lung volumes and low body mass index (BMI) associated with the predominant emphysema phenotype protects against OSA, whereas the higher likelihood of peripheral edema and increased BMI associated with the predominant chronic bronchitis phenotype promotes OSA...
April 22, 2017: Chest
https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#7
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440561/anterior-st-elevation-myocardial-infarction-induced-by-rituximab-infusion-a-case-report-and-review-of-the-literature
#8
K Sharif, A Watad, N L Bragazzi, E Asher, A Abu Much, Y Horowitz, M Lidar, Y Shoenfeld, H Amital
WHAT IS KNOWN AND OBJECTIVES: Rituximab is a chimeric monoclonal anti-CD20 antibody approved for the treatment of some lymphoid malignancies as well as for autoimmune diseases including rheumatoid arthritis (RA), idiopathic thrombocytopenic purpura (ITP) and vasculitis. Generally, rituximab is well tolerated; nevertheless, some patients develop adverse effects including infusion reactions. Albeit rare, these reactions may in some cases be life-threatening conditions. Rituximab cardiovascular side effects include more common effects such as hypertension, oedema and rare cases of arrhythmias and myocardial infarction...
June 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28439062/a-rare-case-of-necrotizing-myopathy-and-fibrinous-and-organizing-pneumonia-with-anti-ej-antisynthetase-syndrome-and-ssa-antibodies
#9
Muhammad Kashif, Divya Arya, Masooma Niazi, Misbahuddin Khaja
BACKGROUND Idiopathic inflammatory myopathies are autoimmune disorders that can involve the skin, joints, muscles, and lungs. The most common of these disorders are dermatomyositis, polymyositis, overlap syndrome, and inclusion body myositis. Necrotizing autoimmune myopathy is an idiopathic inflammatory myopathy that is rarely associated with Sjögren's syndrome. The most common lung findings associated with anti-EJ antisynthetase syndrome are nonspecific interstitial pneumonia and usual interstitial pneumonia; this condition is rarely associated with fibrinous and organizing pneumonia...
April 25, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28438346/post-bronchodilator-reversibility-of-fev1-and-eosinophilic-airway-inflammation-in-copd
#10
Kun-Ta Chou, Kang-Cheng Su, Yi-Han Hsiao, Shiang-Fen Huang, Hsin-Kuo Ko, Ching-Min Tseng, Vincent Yi-Fong Su, Diahn-Warng Perng
INTRODUCTION: The relationship between bronchodilator responsiveness and eosinophilic airway inflammation has not been well documented in COPD. It has been investigated in this retrospective study. This issue has grown in importance due to increasing interest in the asthma-COPD overlap syndrome. METHODS: 264 stable COPD patients with no past history of asthma were retrospectively analyzed. Correlation analyses between FEV1 reversibility and sputum eosinophil levels were conducted...
April 21, 2017: Archivos de Bronconeumología
https://www.readbyqxmd.com/read/28437579/mosaic-trisomy-1q-a-recurring-chromosome-anomaly-that-is-a-diagnostic-challenge-and-is-associated-with-a-fryns-like-phenotype
#11
Kathleen M Bone, Judy E Chernos, Renee Perrier, A Micheil Innes, Francois P Bernier, Ross McLeod, Mary Ann Thomas
OBJECTIVE: Trisomy of the long arm of chromosome 1 is a very rare cytogenetic anomaly that is difficult to diagnose due to tissue-limited mosaicism. This study aimed to further characterize the prenatal and postnatal findings associated with this anomaly, including the first reported chromosomal microarray finding. METHOD: This is a retrospective study of 6 cases of mos 46,X,der(Y)t(Y;1)(q12;q21)/46,XY diagnosed both pre- and postnatally. Detailed clinical features and pregnancy outcome were documented...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28434922/association-of-autoimmune-thyroiditis-and-celiac-disease-with-juvenile-polyposis-due-to-10q23-1q23-31-deletion-potential-role-of-pi3k-akt-pathway-dysregulation
#12
Federica Guaraldi, Giovanni Di Nardo, Luigi Tarani, Luca Bertelli, Francesco Claudio Susca, Rosanna Bagnulo, Nicoletta Resta
Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28433477/novel-mutations-in-the-c-terminal-region-of-gmppb-causing-limb-girdle-muscular-dystrophy-overlapping-with-congenital-myasthenic-syndrome
#13
Sushan Luo, Shuang Cai, Susan Maxwell, Dongyue Yue, Wenhua Zhu, Kai Qiao, Zhen Zhu, Lei Zhou, Jianying Xi, Jiahong Lu, David Beeson, Chongbo Zhao
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound heterozygous GMPPB mutations were collected and retrospectively reviewed. In vitro functional analysis was performed to investigate the pathogeneity of GMPPB variants. The patients presented with proximal limb weakness in their first to second decades...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#14
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28431499/asthma-copd-overlap-syndrome-acos-in-primary-care-of-four-latin-america-countries-the-puma-study
#15
Maria Montes de Oca, Maria Victorina Lopez Varela, Maria E Laucho-Contreras, Alejandro Casas, Eduardo Schiavi, Juan Carlos Mora
BACKGROUND: Asthma-COPD overlap syndrome (ACOS) prevalence varies depending on the studied population and definition criteria. The prevalence and clinical characteristics of ACOS in an at-risk COPD primary care population from Latin America was assessed. METHODS: Patients ≥40 years, current/ex-smokers and/or exposed to biomass, attending routine primary care visits completed a questionnaire and performed spirometry. COPD was defined as post-bronchodilator forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC) < 0...
April 21, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28431471/asthma-copd-overlap-syndrome-and-precision-medicine
#16
Somchai Bovornkitti
No abstract text is available yet for this article.
March 2017: Asian Pacific Journal of Allergy and Immunology
https://www.readbyqxmd.com/read/28431140/performance-of-the-patient-reported-outcomes-measurement-information-system-29-in-scleroderma-a-scleroderma-patient-centered-intervention-network-cohort-study
#17
Linda Kwakkenbos, Brett D Thombs, Dinesh Khanna, Marie-Eve Carrier, Murray Baron, Daniel E Furst, Karen Gottesman, Frank van den Hoogen, Vanessa L Malcarne, Maureen D Mayes, Luc Mouthon, Warren R Nielson, Serge Poiraudeau, Robert Riggs, Maureen Sauvé, Fredrick Wigley, Marie Hudson, Susan J Bartlett
Objective.: The Patient-Reported Outcomes Measurement Information System (PROMIS)-29 assesses seven health-related quality of life domains plus pain intensity. The objective was to examine PROMIS-29v2 validity and explore clinical associations in patients with SSc. Methods.: English-speaking SSc patients in the Scleroderma Patient-centered Intervention Network Cohort from 26 sites in Canada, the USA and the UK completed the PROMIS-29v2 between July 2014 and November 2015...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28430892/anti-arrhythmic-potential-of-the-late-sodium-current-inhibitor-gs-458967-in-murine-scn5a-1798insd-and-human-scn5a-1795insd-ipsc-derived-cardiomyocytes
#18
Vincent Portero, Simona Casini, Maaike Hoekstra, Arie O Verkerk, Isabella Mengarelli, Luiz Belardinelli, Sridharan Rajamani, Arthur A M Wilde, Connie R Bezzina, Marieke W Veldkamp, Carol Ann Remme
AIM: Selective inhibition of cardiac late sodium current (INaL) is an emerging target in the treatment of ventricular arrhythmias. We investigated the electrophysiological effects of GS-458967 (GS967), a potent, selective inhibitor of INaL, in an overlap syndrome model of both gain and loss of sodium channel function, comprising cardiomyocytes derived from both human SCN5A-1795insD+/- induced pluripotent stem cells (hiPSC-CMs) and mice carrying the homologous mutation Scn5a-1798insD+/-...
April 18, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28430755/differentiating-delirium-from-sedative-hypnotic-related-iatrogenic-withdrawal-syndrome-lack-of-specificity-in-pediatric-critical-care-assessment-tools
#19
Kate Madden, Michele M Burns, Robert C Tasker
OBJECTIVES: To identify available assessment tools for sedative/hypnotic iatrogenic withdrawal syndrome and delirium in PICU patients, the evidence supporting their use, and describe areas of overlap between the components of these tools and the symptoms of anticholinergic burden in children. DATA SOURCES: Studies were identified using PubMed and EMBASE from the earliest available date until July 3, 2016, using a combination of MeSH terms "delirium," "substance withdrawal syndrome," and key words "opioids," "benzodiazepines," "critical illness," "ICU," and "intensive care...
April 20, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28425489/meis1-variant-as-a-determinant-of-autonomic-imbalance-in-restless-legs-syndrome
#20
Jérôme Thireau, Charlotte Farah, Nicolas Molinari, Fabrice Bouilloux, Lucas Torreilles, Juliane Winkelmann, Sabine Scholz, Sylvain Richard, Yves Dauvilliers, Frédéric Marmigère
Restless Legs Syndrome (RLS) is a genetically complex neurological disorder in which overlapping genetic risk factors may contribute to the diversity and heterogeneity of the symptoms. The main goal of the study was to investigate, through analysis of heart rate variability (HRV), whether in RLS patients the MEIS1 polymorphism at risk influences the sympathovagal regulation in different sleep stages. Sixty-four RLS patients with periodic leg movement index above 15 per hour, and 38 controls underwent one night of video-polysomnographic recording...
April 20, 2017: Scientific Reports
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