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Overlap syndrome

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https://www.readbyqxmd.com/read/28103457/-congenital-heart-disease-in-children-with-down-syndrome-what-has-changed-in-the-last-three-decades
#1
Filipa Mestre Dias, Susana Cordeiro, Isabel Menezes, Graça Nogueira, Ana Teixeira, Marta Marques, Miguel Abecasis, Rui Anjos
INTRODUCTION: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease. MATERIAL AND METHODS: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery. OBJECTIVE: to assess the progress in the last three decades of cardiological care given to children with Down syndrome and congenital heart disease...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28103123/disease-burden-of-patients-with-asthma-copd-overlap-in-a-us-claims-database-impact-of-icd-9-coding-based-definitions
#2
Keele E Wurst, Samantha St Laurent, David Hinds, Kourtney J Davis
The inclusion of an asthma/chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) population in the 2015 Global Initiative for Chronic Obstructive Lung Disease strategic documents has raised questions about the profile of these patients in clinical practice, as they are mostly excluded from asthma and COPD clinical trials. We estimated the disease burden, co-morbidities, and respiratory treatments of patients with asthma/COPD overlap, utilizing the Truven MarketScan commercial and Medicare databases...
January 19, 2017: COPD
https://www.readbyqxmd.com/read/28100824/asthma-copd-overlap-syndrome-showed-more-exacerbations-however-lower-mortality-than-copd
#3
J-W Bai, B Mao, W-L Yang, S Liang, H-W Lu, J-F Xu
BACKGROUND: Asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) is a new determinate syndrome whose exact characteristics remain unclear. AIM: The objective of this study is to find more difference between ACOS and COPD. DESIGN: A retrospective study of ACOS and COPD in Chinese. METHODS: Data from 65 patients with ACOS and 65 patients with COPD were retrospectively collected and analyzed. The basis of this study was to compare the two groups while ruling out differences in age, sex and smoking history...
January 18, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28100023/frontotemporal-lobar-degeneration-pathogenesis-pathology-and-pathways-to-phenotype
#4
REVIEW
David Ma Mann, Julie S Snowden
Frontotemporal Lobar Degeneration (FTLD) is a clinically, pathologically and genetically heterogeneous group of disorders that affect principally the frontal and temporal lobes of the brain. There are three major associated clinical syndromes, behavioural variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations...
January 18, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28098151/juvenile-myelomonocytic-leukemia-associated-variants-are-associated-with-neo-natal-lethal-noonan-syndrome
#5
Heather Mason-Suares, Diana Toledo, Jean Gekas, Katherine A Lafferty, Naomi Meeks, M Cristina Pacheco, David Sharpe, Thomas E Mullen, Matthew S Lebo
Gain-of-function variants in some RAS-MAPK pathway genes, including PTPN11 and NRAS, are associated with RASopathies and/or acquired hematological malignancies, most notably juvenile myelomonocytic leukemia (JMML). With rare exceptions, the spectrum of germline variants causing RASopathies does not overlap with the somatic variants identified in isolated JMML. Studies comparing these variants suggest a stronger gain-of-function activity in the JMML variants. As JMML variants have not been identified as germline defects and have a greater impact on protein function, it has been speculated that they would be embryonic lethal...
January 18, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28096992/development-of-myasthenia-gravis-8-years-after-interstitial-lung-disease-associated-with-antisynthetase-anti-ej-antibody-syndrome
#6
Takashi Ishiguro, Naho Kagiyama, Eriko Kawate, Kyuto Odashima, Yotaro Takaku, Kazuyoshi Kurashima, Noboru Takayanagi
Patients with antisynthetase-positive interstitial lung disease (ILD) alone sometimes develop myositis during follow-up, but myasthenia gravis (MG) overlapping on antisynthetase syndrome is unusual. A 56-year-old woman with ILD and anti-EJ antibody treated for 8 years developed MG. Physicians should consider myositis and MG when patients develop muscle symptoms during follow-up.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28096980/genetic-and-prenatal-findings-in-two-japanese-patients-with-schinzel-giedion-syndrome
#7
Nozomi Hishimura, Michiko Watari, Hiroki Ohata, Naho Fuseya, Sadae Wakiguchi, Tomoharu Tokutomi, Kouji Okuhara, Nobuhiro Takahashi, Susumu Iizuka, Hiroshi Yamamoto, Takashi Mishima, Satoko Fujieda, Ryoji Kobayashi, Kazutoshi Cho, Yukiko Kuroda, Kenji Kurosawa, Hidefumi Tonoki
We report two Japanese patients with Schinzel-Giedion syndrome. When polyhydramnios is observed, additional fetal findings such as overlapping fingers, hydrocephalus, hydronephrosis, and very characteristic facial appearance comprising high, prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28096524/a-case-of-seronegative-limbic-encephalitis-with-multiple-sclerosis-a-possible-overlapping-syndrome
#8
Zerrin Karaaslan, Özlem Mercan, Erdem Tüzün, Handan Mısırlı, Recai Türkoğlu
BACKGROUND Autoimmune encephalitis might coexist in patients with autoimmune demyelinating disorders. CASE REPORT We report on a case of a 45-year-old female multiple sclerosis (MS) patient presenting with acute onset short-term memory loss, altered mental status, inflammatory cerebrospinal fluid (CSF) findings and an MRI lesion on the left temporal lobe. An extensive panel for neuronal autoantibodies proved negative. Neuropsychological symptoms gave a prompt response to immunotherapy but nevertheless control MRI showed left hippocampal atrophy...
January 18, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28096243/fused-in-sarcoma-neuropathology-in-neurodegenerative-disease
#9
Ian R A Mackenzie, Manuela Neumann
Abnormal intracellular accumulation of the fused in sarcoma (FUS) protein is the characteristic pathological feature of cases of familial amyotrophic lateral sclerosis (ALS) caused by FUS mutations (ALS-FUS) and several uncommon disorders that may present with sporadic frontotemporal dementia (FTLD-FUS). Although these findings provide further support for the concept that ALS and FTD are closely related clinical syndromes with an overlapping molecular basis, important differences in the pathological features and results from experimental models indicate that ALS-FUS and FTLD-FUS have distinct pathogenic mechanisms...
January 17, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28095209/psychological-factors-influence-the-overlap-syndrome-in-functional-gastrointestinal-disorders-fgids-among-middle-aged-women-in-south-korea
#10
Seung-Ho Jang, Han-Seung Ryu, Suck-Chei Choi, Hye-Jin Lee, Sang-Yeol Lee
This study investigated psychological factors related to the overlap syndrome i.e., multiple gastrointestinal conditions that are part of functional gastrointestinal disorders (FGID) in the same individual and potentially related to quality of life (QOL) among women aged 45-60 years (n = 627) in South Korea. The study was undertaken between July 2014 and March 2015. Depressive and anxiety symptoms were ascertained using the Center for Epidemiologic Studies Depression scale (CES-D) and Beck Anxiety Inventory (BAI), respectively...
January 17, 2017: Women & Health
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#11
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28093873/diagnostic-and-management-challenges-from-childhood-puberty-through-to-transition-in-severe-insulin-resistance-due-to-insulin-receptor-mutations
#12
Christina Wei, Christine P Burren
Two Caucasian girls, both of normal weight and body mass indices, were diagnosed with type A insulin resistance (IR) in childhood. Case 1 presented with premature adrenarche aged 7 years, then by age 12 years had hirsutism, acne, acanthosis nigricans, and asymptomatic diabetes. Subsequent investigation revealed raised adiponectin (15.3 mg/L) and heterozygous p.Pro1205Leu mutation in the INSR gene encoding the insulin receptor. She experienced postprandial hypoglycaemia on metformin; acarbose was trialled and discontinued aged 16 years, as she became normoglycaemic...
January 17, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/28093418/cell-specific-epigenome-wide-dna-methylation-profile-in-long-term-cultured-minor-salivary-gland-epithelial-cells-from-patients-with-sj%C3%A3-gren-s-syndrome
#13
Amandine Charras, Orsia D Konsta, Christelle Le Dantec, Cristina Bagacean, Efstathia K Kapsogeorgou, Athanasios G Tzioufas, Jacques-Olivier Pers, Anne Bordron, Yves Renaudineau
OBJECTIVES: The aetiology of primary Sjögren's syndrome (pSS), also referred to as autoimmune epithelitis, is incompletely understood but includes an epigenetic contribution. Accordingly, the aim of this study was to investigate DNA methylation in salivary gland epithelial cells (SGEC), and to compare results with those publicly available from pSS B and T cells. METHODS: Long-term cultured SGEC were selected to conduct an epigenome-wide association study (EWAS) in patients with pSS with comparison to controls using the HumanMethylation 450 K array from Illumina...
January 16, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28093268/bronchiectasis-rheumatoid-overlap-syndrome-bros-is-an-independent-risk-factor-for-mortality-in-patients-with-bronchiectasis-a-multicentre-cohort-study
#14
Anthony De Soyza, Melissa J McDonnell, Pieter C Goeminne, Stefano Aliberti, Sara Lonni, John Davison, Lieven J Dupont, Thomas C Fardon, Robert M Rutherford, Adam T Hill, James D Chalmers
INTRODUCTION: We studied if Bronchiectasis (BR) and Rheumatoid arthritis (RA) when manifesting as an overlap syndrome (BROS) was associated with worse outcomes than other BR aetiologies applying the Bronchiectasis Severity Index (BSI). METHODS: We interrogated the Bronchiectasis Severity Index (BSI) databases of 1716 patients across 6 centres: Edinburgh, UK (608 patients), Dundee, UK (N=286), Leuven, Belgium (N=253), Monza, Italy (N=201), Galway Ireland (N=242) and Newcastle, UK (N=126)...
January 13, 2017: Chest
https://www.readbyqxmd.com/read/28092305/prevalence-and-impact-of-inflammatory-bowel-disease-irritable-bowel-syndrome-on-patient-reported-outcomes-in-ccfa-partners
#15
Maisa I Abdalla, Robert S Sandler, Michael D Kappelman, Christopher F Martin, Wenli Chen, Kristen Anton, Millie D Long
BACKGROUND: Inflammatory bowel disease (IBD) patients with persistent symptoms despite no or minimal inflammation are frequently described as having an overlap of IBD and irritable bowel syndrome (IBD-IBS). Limited data are available on how IBS impacts the individual patient with IBD. In this study, we aimed to evaluate the prevalence of IBD-IBS and investigate its impact on patient-reported outcomes. METHOD: We performed a cross-sectional analysis within the CCFA Partners Study...
January 12, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28089354/primary-biliary-cholangitis-primary-sclerosing-cholangitis-in-an-evolving-overlap-syndrome-a-case-report
#16
Daniele Mandolesi, Marco Lenzi, Antonietta D'Errico, Davide Festi, Franco Bazzoli, Antonio Colecchia
No abstract text is available yet for this article.
January 12, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28089081/asthma-chronic-obstructive-pulmonary-disease-overlap-syndrome-literature-review-and-contributions-towards-a-portuguese-consensus
#17
D Araújo, E Padrão, M Morais-Almeida, J Cardoso, F Pavão, R B Leite, A C Caldas, A Marques
INTRODUCTION: Phenotypic overlap between the two main chronic airway pulmonary diseases, asthma and chronic obstructive pulmonary disease (COPD), has been the subject of debate for decades, and recently the nomenclature of asthma-COPD overlap syndrome (ACOS) was adopted for this condition. The definition of this entity in the literature is, however, very heterogeneous, it is therefore important to define how it applies to Portugal. METHODS: A literature review of ACOS was made in a first phase resulting in the drawing up of a document that was later submitted for discussion among a panel of chronic lung diseases experts, resulting in reflexions about diagnosis, treatment and clinical guidance for ACOS patients...
January 6, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28079347/the-diagnostic-challenge-of-symptomatic-uncomplicated-diverticular-disease
#18
Cesare Cremon, Lara Bellacosa, Maria R Barbaro, Rosanna F Cogliandro, Vincenzo Stanghellini, Giovanni Barbara
Colonic diverticulosis is a common condition in Western industrialized countries occurring in up to 65% of people over the age of 60 years. Only a minority of these subjects (about 10- 25%) experience symptoms, fulfilling Rome criteria for irritable bowel syndrome (IBS) diagnosis (IBS-like symptoms) in 10 to 66% of cases. Symptomatic uncomplicated diverticular disease (SUDD) is a syndrome characterized by recurrent abdominal symptoms attributed to diverticula in the absence of macroscopically evident alterations other than the presence of diverticula...
January 12, 2017: Minerva Gastroenterologica e Dietologica
https://www.readbyqxmd.com/read/28079239/prevalence-of-dyspeptic-symptoms-and-heartburn-of-adults-in-belo-horizonte-brazil
#19
Alessandra Maciel Almeida, Luísa Alvarenga Guerra Martins, Patrícia Liz Terenzi Cunha, Viviane Willig Brasil, Lucas Galuppo Fernandes Félix, Maria do Carmo Friche Passos
BACKGROUND: - Medical literature has shown dyspepsia and heartburn-related symptoms occur among 15% to 40% of the population. These symptoms can occur at any age and are more prevalent in women. OBJECTIVE: - Investigate the prevalence of dyspeptic symptoms and heartburn among individuals over 18. METHODS: - Individuals over 18 were randomly selected in public venues in Belo Horizonte/MG to participate. A standardized questionnaire that included questions related to social-demographic characteristics, eating habits, digestive symptoms, medical appointments, medications, exams, previous surgeries and comorbidities was applied...
January 2017: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/28078966/visual-and-cross-modal-cues-increase-the-identification-of-overlapping-visual-stimuli-in-balint-s-syndrome
#20
Daniela D'Imperio, Michele Scandola, Valeria Gobbetto, Cristina Bulgarelli, Matteo Salgarello, Renato Avesani, Valentina Moro
INTRODUCTION: Cross-modal interactions improve the processing of external stimuli, particularly when an isolated sensory modality is impaired. When information from different modalities is integrated, object recognition is facilitated probably as a result of bottom-up and top-down processes. The aim of this study was to investigate the potential effects of cross-modal stimulation in a case of simultanagnosia. METHOD: We report a detailed analysis of clinical symptoms and an (18)F-fluorodeoxyglucose (FDG) brain positron emission tomography/computed tomography (PET/CT) study of a patient affected by Balint's syndrome, a rare and invasive visual-spatial disorder following bilateral parieto-occipital lesions...
January 12, 2017: Journal of Clinical and Experimental Neuropsychology
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