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https://www.readbyqxmd.com/read/28823115/identification-of-distinctive-clinical-significance-in-hospitalized-patients-with-endoscopic-duodenal-mucosal-lesions
#1
Yeji Han, Hye-Kyung Jung, Ji Young Chang, Chang Mo Moon, Seong-Eun Kim, Ki-Nam Shim, Sung-Ae Jung, Joo-Young Kim, Ji-Yun Bae, Sae-In Kim, Ji-Hyun Lee, Sanghui Park
Background/Aims: Duodenitis is not infrequent finding in patient undergoing endoscopy. However, hospitalized patients have a higher incidence of secondary duodenal mucosal lesions that might be related with inflammatory bowel disease (IBD), cytomegalovirus (CMV) infection, tuberculosis, immunologic disorders, or other rare infections. We aimed to identify clinicopathologic features of duodenal mucosal lesions in hospitalized patients. Methods: All hospitalized patients having duodenal mucosal lesions were identified by endoscopic registration data and pathologic data query from 2011 to 2014...
August 21, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28823069/current-status-of-cattle-production-system-in-nyagatare-district-rwanda
#2
Eugene Mazimpaka, Francis Mbuza, Tukei Michael, Eugene N Gatari, E M Bukenya, Okwee-Acai James
A study was conducted to characterize the cattle production systems in Nyagatare District, Eastern Province of Rwanda using pre-tested questionnaires, interviews with key informants as well as focus group discussions in a period of 2 months. The respondents were selected by multi-stage sampling at sector and cell levels. Based on the procedure of Krejcie and Morgan (Educational and Psychological Measurement 30:607-610, 1970) to determine the overall sample size, the result indicated that the majority (98.3%) of farms were privately owned by large families of five to seven members, and most farmers (53...
August 19, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/28822997/18f-fdg-pet-ct-in-solitary-plasmacytoma-metabolic-behavior-and-progression-to-multiple-myeloma
#3
Domenico Albano, Giovanni Bosio, Giorgio Treglia, Raffaele Giubbini, Francesco Bertagna
PURPOSE: Solitary plasmacytoma (SP) is a rare plasma-cell neoplasm, which can develop both in skeletal and/or soft tissue and frequently progresses to multiple myeloma (MM). Our aim was to study the metabolic behavior of SP and the role of 18F-FDG-PET/CT in predicting progression to MM. MATERIALS AND METHODS: Sixty-two patients with SP who underwent 18F-FDG-PET/CT before any treatment were included. PET images were qualitatively and semiquantitatively analyzed by measuring the maximum standardized uptake value body weight (SUVbw), lean body mass (SUVlbm), body surface area (SUVbsa), metabolic tumor volume (MTV), total lesion glycolysis (TLG) and compared with age, sex, site of primary disease, and tumor size...
August 19, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28822825/comparison-of-transforaminal-lumbar-interbody-fusion-outcomes-in-patients-receiving-rhbmp-2-versus-autograft
#4
Taleef R Khan, Kalin R Pearce, Steven J McAnany, Colleen M Peters, Munish C Gupta, Lukas P Zebala
BACKGROUND CONTEXT: Recombinant human bone morphogenetic protein 2 (rhBMP-2) plays a pivotal role in complex spine surgery. Despite its limited approval, the off-label use of rhBMP-2 is prevalent, particularly in transforaminal lumbar interbody fusions (TLIF) PURPOSE: To determine the effectiveness and safety of rhBMP-2 use in TLIF procedures versus autograft. STUDY DESIGN: Retrospective Cohort Study PATIENT SAMPLE: Patients older than 18 years undergoing spine surgery for lumbar degenerative spine disease at a single academic institution...
August 16, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28822792/imaging-assessment-of-fibrodysplasia-ossificans-progressiva-qualitative-quantitative-and-questionable
#5
Mona Al Mukaddam, Chamith S Rajapakse, Robert J Pignolo, Frederick S Kaplan, Stacy E Smith
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant genetic disorder of heterotopic ossification (HO) characterized by skeletal anomalies and episodic soft tissue swelling (flare-ups) that can transform into heterotopic bone. The progressive development of heterotopic bone and progressive arthropathy leads to significant limitation of mobility. This paper will review various imaging modalities used in evaluating episodic soft tissue swelling (flare-ups), heterotopic bone and skeletal anomalies...
August 16, 2017: Bone
https://www.readbyqxmd.com/read/28822752/comprehensive-analysis-of-tissue-wide-gene-expression-and-phenotype-data-reveals-tissues-affected-in-rare-genetic-disorders
#6
Ariel Feiglin, Bryce K Allen, Isaac S Kohane, Sek Won Kong
Linking putatively pathogenic variants to the tissues they affect is necessary for determining the correct diagnostic workup and therapeutic regime in undiagnosed patients. Here, we explored how gene expression across healthy tissues can be used to infer this link. We integrated 6,665 tissue-wide transcriptomes with genetic disorder knowledge bases covering 3,397 diseases. Receiver-operating characteristics (ROC) analysis using expression levels in each tissue and across tissues indicated significant but modest associations between elevated expression and phenotype for most tissues (maximum area under ROC curve = 0...
August 14, 2017: Cell Systems
https://www.readbyqxmd.com/read/28822687/right-ventricular-infarction
#7
REVIEW
Vinod Namana, Sushilkumar Satish Gupta, Anna A Abbasi, Hitesh Raheja, Jacob Shani, Gerald Hollander
Coronary Heart Disease is a leading cause of morbidity and mortality worldwide. A great amount is known about left ventricular myocardial infarction. It was not until much later (1974) that right ventricular myocardial infarction was studied as a separate entity. Isolated right ventricle myocardial infarction is rare. Around one-third of patients with acute infero-posterior ST-segment elevation myocardial infarction, will present with concomitant right ventricular infraction. The aim of this paper is to review the literature on the importance of early recognition of right ventricular infarction, clinical presentation, pathophysiology, diagnostic evaluation, differential diagnosis, treatment, complications and prognosis...
July 14, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28822351/granulomatous-rosacea-a-case-report
#8
A Kelati, F Z Mernissi
BACKGROUND: Granulomatous rosacea is a rare chronic inflammatory skin disease with an unknown origin. The role of Demodex follicularum in its pathogenesis is currently proved. CASE PRESENTATION: We report a case of a 54-year-old Moroccan man with a 3-month history of erythematous, nonpruritic papules on the lateral side around the eyes. Dermoscopy and histology confirmed the diagnosis of granulomatous rosacea. CONCLUSIONS: We describe another clinical presentation of granulomatous rosacea with a clinical-dermoscopic-pathological correlation...
August 20, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28822059/quality-of-life-in-patients-with-hypoparathyroidism-receiving-standard-treatment-a-systematic-review
#9
REVIEW
Matthias Büttner, Thomas J Musholt, Susanne Singer
PURPOSE: Hypoparathyroidism is a rare endocrine disorder for which replacement therapy of the missing parathyroid hormone is not the standard therapeutic option. Current standard treatment consists of calcium and vitamin D supplementation. The intake of calcium and vitamin D supplementation can lead to complications and therefore might negatively influence patients' quality of life. METHODS: A systematic literature review was performed to assess the current knowledge on the influence of hypoparathyroidism on patients' quality of life...
August 18, 2017: Endocrine
https://www.readbyqxmd.com/read/28821969/interleukin-1-receptor-like-1-protein-st2-is-a-potential-biomarker-for-cardiomyopathy-in-duchenne-muscular-dystrophy
#10
Julia Anderson, Haeri Seol, Heather Gordish-Dressman, Yetrib Hathout, Christopher F Spurney
Duchenne muscular dystrophy (DMD) is a rare, fatal X-linked disorder characterized by the lack of dystrophin, a key sarcolemma muscle protein. Cardiac failure is a significant cause of death in DMD subjects. The purpose of our research was to identify potential cardiac serum biomarkers associated with DMD cardiomyopathy. This is an observational, case-controlled study using subjects from the CINRG DMD natural history study with cardiomyopathy (ejection fraction (EF) <55%; shortening fraction (SF) <28%), subjects without cardiomyopathy (EF ≥ 55%; SF ≥ 28%) compared to normal healthy volunteer subjects...
August 18, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28821934/whole-exome-sequencing-to-identify-the-cause-of-congenital-sensorineural-hearing-loss-in-carriers-of-a-heterozygous-gjb2-mutation
#11
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Klemens Frei, Trevor Lucas
Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causative variations in patients with Mendelian diseases...
August 18, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28821265/poncet-s-disease-after-the-intravesical-instillation-of-bacillus-calmette-gu%C3%A3-rin-bcg-a-case-report
#12
Paula Cíntia Machado Sampaio, Yan Garcia Lira, Hellen Yuki Umemura Ribeiro, Fernanda de Paula Moreira, Maitê Silva Martins Gadelha, Sérgio Ferreira Santos da Cruz
BACKGROUND: Poncet's disease is a rare syndrome characterized by articular impairment in a form of rare tuberculid. One of the theories of its cause involves an autoimmune response induced by the intravesical administration of the Calmette-Guerin Bacillus or the treatment of bladder carcinoma. Furthermore, there may be an appearance of oligoarticular or polyarticular arthritis, beginning 1-3 months after the start of therapy. Few physicians know the disease and the literature related to that syndrome is scarce and restricted to case reports, which contributes to its under diagnosis...
August 18, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28821240/avbd1-nucleotide-polymorphisms-peptide-antimicrobial-activities-and-microbial-colonisation-of-the-broiler-chicken-gut
#13
Kevin Cadwell, Sherko S Niranji, Vanessa L Armstrong, Catherine A Mowbray, Richard Bailey, Kellie A Watson, Judith Hall
BACKGROUND: The importance of poultry as a global source of protein underpins the chicken genome and associated SNP data as key tools in selecting and breeding healthy robust birds with improved disease resistance. SNPs affecting host peptides involved in the innate defences tend to be rare, but three non-synonymous SNPs in the avian β-defensin (AvBD1) gene encoding the variant peptides NYH, SSY and NYY were identified that segregated specifically to three lines of commercial broiler chickens Line X (LX), Line Y(LY) and Line Z...
August 18, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#14
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28821228/sg-adviser-mtdna-a-web-server-for-mitochondrial-dna-annotation-with-data-from-200-samples-of-a-healthy-aging-cohort
#15
Manuel Rueda, Ali Torkamani
BACKGROUND: Whole genome and exome sequencing usually include reads containing mitochondrial DNA (mtDNA). Yet, state-of-the-art pipelines and services for human nuclear genome variant calling and annotation do not handle mitochondrial genome data appropriately. As a consequence, any researcher desiring to add mtDNA variant analysis to their investigations is forced to explore the literature for mtDNA pipelines, evaluate them, and implement their own instance of the desired tool. This task is far from trivial, and can be prohibitive for non-bioinformaticians...
August 18, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28820560/severe-valvular-aortic-stenosis-and-fixed-subvalvular-aortic-stenosis-a-rare-and-challenging-combination
#16
Ayman Elbadawi, Marwan Saad, Islam Y Elgendy, Basarat Baig, Farhad Abtahian
A 58-year-old man with a history of hypertension presented with accelerating angina. Transthoracic echocardiography revealed a thickened aortic valve with pressure gradients and an estimated aortic valve area suggestive of mild aortic stenosis. Left heart catheterization demonstrated non-significant coronary artery disease. Pressure tracings showed a high left ventricular pressure and a mean gradient across the aortic valve of 69 mmHg. Subsequent transesophageal echocardiography revealed a subvalvular aortic stenosis that was secondary to the subaortic membrane, with severe valvular aortic stenosis...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820555/satellite-atrial-septal-vegetations-secondary-to-mitral-valve-endocarditis
#17
Germán Cedielq, Marta Guillen Marzo, Ramón de Castro Aritmendiz, Jairo Toro Gil, Alfredo Bardají
Infective endocarditis is a challenging clinical problem with a high rate of mortality. Early recognition of this disease, and especially its complications, remain a critical task for the cardiologist. In this scenario, atrial endocarditis is a rare and sometimes unrecognized complication of mitral valve endocarditis. Herein is reported a clinical case that shows how a satellite vegetation in the atrial septum can be produced in a patient with mitral regurgitation secondary to mitral valve endocarditis. Video 1: Transthoracic echocardiography showing the presence of vegetation in the posterior mitral leaflet, severe secondary mitral regurgitation, and satellite vegetation in the atrial septum...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820551/fungal-endocarditis-due-to-aspergillus-oryzae-the-first-case-reported-in-the-literature
#18
Andrea Mazza, Nicola Luciani, Marco Luciani, Federico Cammertoni, Alessia Giaquinto, Natalia Pavone, Piergiorgio Bruno, Massimo Massetti
Infective endocarditis (IE) is a severe disease with high mortality and morbidity. Prosthetic valve endocarditis is a life-threatening complication which can occur in less than 10% of patients with valve prosthesis. A fungal etiology of IE is rare and accounts for only 2-4% of all case of endocarditis, but is associated with a higher mortality and morbidity. Herein is reported the first case of fungal endocarditis of aortic valve prosthesis due to Aspergillus oryzae in a 67-year-old caucasian man who nine years previously underwent mitral and aortic valve replacement with mechanical prostheses, and tricuspid annuloplasty for acute IE due to Enterococcus spp...
March 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28820306/prognostic-value-of-estrogen-receptor-in-who-grade-iii-meningioma-a-long-term-follow-up-study-from-a-single-institution
#19
Lingyang Hua, Hongda Zhu, Jingrun Li, Hailiang Tang, Dapeng Kuang, Yin Wang, Feng Tang, Xiancheng Chen, Liangfu Zhou, Qing Xie, Ye Gong
OBJECTIVE Malignant meningioma is rare and classified as Grade III in the WHO classification of CNS tumors. However, the presence of estrogen receptor (ER) in WHO Grade III meningiomas and its correlation with patients' outcomes are still unclear. In this single-center cohort study, the authors analyzed clinical features, treatment, and prognosis of these malignant tumors in patients with long-term follow-up. METHODS A total of 87 patients who were pathologically diagnosed with WHO Grade III meningiomas between 2003 and 2008 were enrolled in this study and followed for at least 7 years...
August 18, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28820063/loss-in-toxic-function-of-aggregates-of-%C3%AE-synuclein-mutants-by-a-%C3%AE-synuclein-derived-peptide
#20
Soheila Mohammadi, Maryam Nikkhah, Saman Hosseinkhani
Parkinson's disease (PD) primarily results from a severe and selective damage of dopaminergic neurons. The neuropathological hallmark of the disease is the presence of inclusions known as Lewy bodies, that are enriched in α-Synuclein (αS) nanofibrils, within the surviving neurons. The inhibition of αS aggregation is considered as an efficient approach for preventing or treating PD. To date, several researchers have been focused on screening for the inhibitors that are able to block, slow down, or reverse αS aggregation, particularly at its early stages...
August 18, 2017: Protein and Peptide Letters
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