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https://www.readbyqxmd.com/read/29046033/-solar-urticaria-case-report-and-literature-review
#1
María Raigosa, Yuliana Toro, Jorge Sánchez
BACKGROUND: Solar urticaria is a rare type of inducible urticaria characterized by wheal and erythema formation shortly after exposure to sunlight or to an artificial light source; its pathophysiology is not yet entirely understood. The treatment of choice, in addition to exposure avoidance, consists in antihistamine administration. CLINICAL CASE: This is the case of a 27-year-old woman with no personal history of allergic diseases and with a 2-year history of erythema and wheals in photo-exposed areas associated with sunlight exposure for periods longer than 10 minutes...
July 2017: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29045980/-anti-neutrophil-cytoplasmic-antibodies-associated-vasculitis-with-lung-hemorrhage-in-the-patient-on-maintenance-haemodialysis-a-case-report
#2
J X Ding, M Wang
Anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis (AAV) is usually a multisystem disorder, and pulmonary renal syndrome is a common presentation. Patients with AAV are less likely to experience relapse when they progress to end-stage renal disease (ESRD). We report a rare case of diffuse alveolar hemorrhage (DAH) in relapsing AAV after eight years of haemodialysis. A 58-year-old woman was admitted to our hospital with the chief complaints of dyspnea and hemoptysis accompanied by anemia, fever, fatigue, and weight loss...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045978/-clinicopathologic-features-of-infant-dysembryoplastic-neuroepithelial-tumor-a-case-report-and-literature-review
#3
H Wang, J T Ye, H X Yao, D Li, Y Dong
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045965/-cause-analysis-of-spinal-surgery-in-ankylosing-spondylitis
#4
R Liu, L Sun, C H Li, J Y Zhai, X Y Liu
OBJECTIVE: To investigate the common cause of spinal surgery in ankylosing spondylitis (AS) and to develop reasonable and effective treatment programs for rhematologists. METHODS: In this study, 79 AS patients (72 males, 7 females) hospitalized in the Department of Orthopedic and received spinal surgery in Peking University Third Hospital from January 2007 to July 2013 were investigated retrospectively. The causes of the spinal surgery were analyzed. RESULTS: The majority of the surgery were of cervical vertebra surgery for 59 cases (74...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045954/-pulmonary-arterial-hypertension-as-leading-manifestation-of-methylmalonic-aciduria-clinical-characteristics-and-gene-testing-in-15-cases
#5
X Q Liu, H Yan, J X Qiu, C Y Zhang, J G Qi, X Zhang, H J Xiao, Y L Yang, Y H Chen, J B DU
OBJECTIVE: To deepen our understanding of Methylmalonic aciduria (MMA) associated pulmonary hypertension (PH) by analyzing the characteristics of clinical presentation, pulmonary high resolusion CT(HRCT), treatment response and gene mutation. METHODS: This study includes 15 cases of pediatric patients with MMA associated PH diagnosed and treated in Peking University First Hospital pediatric department between May 2012 and May 2016 with symptoms of PH as their leading presentation...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29045944/prevalence-estimates-of-rare-congenital-anomalies-by-integrating-two-population-based-registries-in-tuscany-italy
#6
Alessio Coi, Michele Santoro, Anna Pierini, Sonia Marrucci, Federica Pieroni, Fabrizio Bianchi
BACKGROUND/AIMS: Population-based registries play a key role in the epidemiological surveillance of congenital anomalies (CAs). This study is aimed at improving the epidemiological surveillance and providing prevalence estimates of rare CAs using the Registry of Rare Diseases as an added data source to the Registry of Congenital Anomalies. METHODS: Cases of diagnosed rare CAs (2006-2013) were extracted from the Tuscany Registry of Rare Diseases and the Tuscany Registry of Congenital Anomalies in order to set up an integrated dataset...
September 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/29045823/traditional-uses-phytochemistry-and-pharmacological-properties-of-african-nauclea-species-a-review
#7
REVIEW
Romain Haudecoeur, Marine Peuchmaur, Basile Pérès, Maxime Rome, Germain Sotoing Taïwe, Ahcène Boumendjel, Benjamin Boucherle
ETHNOPHARMACOALOGICAL RELEVANCE: The genus Nauclea in Africa comprises seven species. Among them, N. latifolia, N. diderrichii and N. pobeguinii are widely used by the local population in traditional remedies. Preparation from various parts of plants (e.g. roots, bark, leaves) are indicated by traditional healers for a wide range of diseases including malaria, pain, digestive ailments or metabolic diseases. MATERIALS AND METHODS: A literature search was conducted on African species of the genus Nauclea using scientific databases such as Google Scholar, Pubmed or SciFinder...
October 15, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29045736/clinical-trial-parameters-that-influence-outcomes-in-lupus-trials-that-use-the-systemic-lupus-erythematosus-responder-index
#8
Kenneth C Kalunian, Murray B Urowitz, David Isenberg, Joan T Merrill, Michelle Petri, Richard A Furie, Mary-Ann Morgan-Cox, Rebecca Taha, Steven Watts, Maria Silk, Matthew D Linnik
Objective: The SLE Responder Index (SRI) is a composite endpoint used in SLE trials. This investigation examined the clinical trial elements that drive response measured by the SRI. Methods: Analyses are based on data from two phase 3 trials (n = 2262) that evaluated the impact of an anti-B-cell activating factor antibody on disease activity using SRI-5 as the primary endpoint (ClinicalTrials.gov NCT01196091 and NCT01205438). Results: The SRI-5 response rate at week 52 for all patients was 32...
October 17, 2017: Rheumatology
https://www.readbyqxmd.com/read/29045530/tracking-evolution-of-aromatase-inhibitor-resistance-with-circulating-tumour-dna-analysis-in-metastatic-breast-cancer
#9
Charlotte Fribbens, Isaac Garcia Murillas, Matthew Beaney, Sarah Hrebien, Ben O'Leary, Lucy Kilburn, Karen Howarth, Michael Epstein, Emma Green, Nitzan Rosenfeld, Alistair Ring, Stephen Johnston, Nicholas Turner
Background: Selection of resistance mutations may play a major role in the development of endocrine resistance. ESR1 mutations are rare in primary breast cancer but have high prevalence in patients treated with aromatase inhibitors (AI) for advanced breast cancer. We investigated the evolution of genetic resistance to first line AI therapy using sequential ctDNA sampling in patients with advanced breast cancer. Patients and Methods: 83 patients on first line AI therapy for metastatic breast cancer were enrolled in a prospective study...
October 4, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29045525/clinical-benefit-of-systemic-treatment-in-patients-with-advanced-pancreatic-and-gastro-intestinal-neuroendocrine-tumours-according-to-esmo-mcbs-and-asco-framework
#10
L D de Hosson, L M van Veenendaal, Y Schuller, W T Zandee, W W de Herder, M E T Tesselaar, H J Klümpen, A M E Walenkamp
BackgroundAssessment of clinical benefit of systemic treatments of rare diseases including gastroenteropancreatic neuroendocrine tumors (GEP-NET) is challenging. Recently several tools have been developed to grade clinical benefit of cancer drugs. European Society for Medical Oncology (ESMO) has developed the ESMO Magnitude of Clinical Benefit Scale (ESMO-MCBS). The American Society of Clinical Oncology (ASCO) developed and revised the ASCO framework consisting of the Net Health Benefit (NHB) score juxtaposed against the costs of the treatment...
September 26, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29045173/the-international-rare-diseases-research-consortium-announces-new-vision-and-goals
#11
Sharon F Terry
No abstract text is available yet for this article.
October 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29045018/patient-disease-and-treatment-factors-associated-with-overall-survival-in-esthesioneuroblastoma
#12
Ryan M Carey, Joseph Godovchik, Alan D Workman, Edward C Kuan, Arjun K Parasher, Jinbo Chen, James N Palmer, Nithin D Adappa, Jason G Newman, Jason A Brant
BACKGROUND: Esthesioneuroblastomas (ENB) are uncommon and data regarding outcomes are often limited to single-institution series. The National Cancer Database (NCDB), which contains outcomes information from treatment centers across the United States, represents an opportunity to evaluate outcomes for rare diseases such as ENB across multiple institutions. METHODS: The NCDB was queried for location codes corresponding to the nasal cavity and paranasal sinuses and the histology code for ENB...
October 17, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29044634/rituximab-for-the-treatment-of-type-b-insulin-resistance-syndrome-a-case-report-and-review-of-the-literature
#13
Ken Iseri, Masayuki Iyoda, Yasuto Shikida, Takako Inokuchi, Tomoki Morikawa, Noriko Hara, Tsutomu Hirano, Takanori Shibata
BACKGROUND: Type B insulin resistance syndrome is a rare disease characterized by refractory transient hyperglycaemia and severe insulin resistance associated with circulating anti-insulin receptor antibodies. A standardized treatment regimen for type B insulin resistance syndrome has yet to be established. CASE REPORT: We report the case of a 64-year-old man undergoing haemodialysis for antineutrophil cytoplasmic antibody-associated vasculitis and diabetic nephropathy, who developed rapid onset of hyperglycaemia (glycated albumin 52...
October 16, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29044468/matchmaker-exchange
#14
Nara L M Sobreira, Harindra Arachchi, Orion J Buske, Jessica X Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O B Jacobsen, Melissa A Haendel, Kym M Boycott, Ada Hamosh, Heidi L Rehm
In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heterogeneity; locus heterogeneity; somatic and germline mosaicism; variants of uncertain functional significance; technically inaccessible areas of the genome; incorrect mode of inheritance investigated; and inadequate communication between clinicians and basic scientists with knowledge of particular genes, proteins, or biological systems...
October 18, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/29044343/case-report-is-low-%C3%AE-gal-enzyme-activity-sufficient-to-establish-the-diagnosis-of-fabry-disease
#15
Gilson Biagini, Ana Clara Simões Flórido Almeida, Tammy Vernalha Rocha Almeida, Cassiano Augusto Braga Silva, Bruna Fernanda de Castro, Tais Cristina Reche, Ana Cláudia Dabinski, Fellype Carvalho Barreto
Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. The medecial investigation confirmed that D313Y is an alpha-galactosidase A sequence variant that causes pseudo deficient enzyme activity in plasma but not Fabry disease...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29044342/acquired-cystic-kidney-disease-in-allograft-with-long-standing-poor-function
#16
Leonardo Cardili, Henrique Machado de Sousa Proença, Marcello Fabiano de Franco
Acquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion. Its occurrence in chronically rejected renal allografts is rare and its frequency and behavior in this setting are not well known. Herein we report a case of ACKD in a long standing nonfunctional allograft (215 months) which is not associated with malignancy and briefly review the related literature...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29044085/vitrectomy-for-epiretinal-membrane-in-adult-onset-coats-disease
#17
Pradeep Kumar, Vinod Kumar
Coats' disease is characterized by retinal vascular telangiectasia and subretinal and intraretinal exudation. A relatively benign form of the disease that occurs in adults is referred to as adult-onset Coats' disease. Involvement of macula in the form of macular edema and exudation are the common presenting features in both forms of the disease. We describe a rare case of adult-onset Coats' disease that presented with epiretinal membrane (ERM). Laser photocoagulation of retinal vascular telangiectasia resulted in worsening of patient's symptoms and ERM...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29044078/primary-calcareous-degeneration-of-the-cornea
#18
Gustavo Longhi Bordin, Fabio Dornelles, Juliana Amaral Martins, Otavio Azevedo Magalhaes
Primary calcareous degeneration is a rare corneal disease. In the past 50 years, only four cases have been described. We present the case of a 26-year-old male patient with progressive calcium deposition in both eyes with negative laboratory parameters. For the first time, anterior segment optic coherence tomography was used to investigate and establish the proper treatment.
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29044021/-asia-syndrome-breast-implant-and-still-s-disease
#19
Cristhian Armenteros, Andrea Odzak, Florencia Arcondo, Marcela De Dios Soler, Tatiana Sinigier, Marcelo Zylberman
Connective tissue diseases associated with silicone breast implants have been widely discussed. In the last decade, siliconosis has been included in the autoimmune/inflammatory syndrome induced by adjuvants (ASIA) next to Gulf War syndrome, macrophage myofascitis and postvaccination phenomena. The ASIA syndrome may appear as lupus, rheumatoid arthritis, or more rarely, as adult Still's disease. We discuss the case of a patient with prolonged fever and clinical criteria for ASIA and Still's disease. The prostheses were resected and pathology showed absence of breast implant associated anaplastic lymphoma ALK (-)...
2017: Medicina
https://www.readbyqxmd.com/read/29043985/from-the-observation-of-atypical-cells-on-blood-smear-to-the-diagnosis-of-mast-cell-leukemia-a-case-report-in-a-79-year-old-woman-consulting-for-anemia
#20
Julien Decker, Sabine Meyer, Véronique Latger-Cannard, Sorin Visanica, Elena Loppinet, Jean-François Lesesve, Blandine Bénet
Mast cell leukemia is an extremely rare disease, which belongs to the systemic mastocytosis group (WHO 2016). We are reporting the case of a 79-year-old woman, without any hematological particular history consulting for hyperthermia, repeated malaise and subacute anemia. Her clinical examination was normal. Unusual cells were seen on blood and bone marrow smears. They represent more than 10% of blood nucleated cells end more than 20% of the bone marrow nucleated cells. Bone marrow immunophenotyping was performed to characterize these cells...
October 18, 2017: Annales de Biologie Clinique
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