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https://www.readbyqxmd.com/read/28088585/nocardiosis-in-south-of-france-during-the-last-ten-years
#1
Delphine Haussaire, Pierre-Edouard Fournier, Karamoko Djiguiba, Valerie Moal, Tristan Legris, Rajsingh Purgus, Jeremy Bismuth, Xavier Elharrar, Martine Reynaud-Gaubert, Henri Vacher-Coponat
BACKGROUND: Nocardiosis is a rare disease with polymorphic presentations. Epidemiology and clinical presentation could change with the increasing number of immunocompromised patients. METHODS: Medical records and microbiologic data for patients affected by nocardiosis and treated in the university hospital of Marseille between 2004 and 2014 were retrospectively analyzed. RESULTS: We analyzed 34 patients infected by Nocardia spp during this period...
January 11, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28087591/clinical-trials-in-antineutrophil-cytoplasmic-antibody-associated-vasculitis-what-we-have-learnt-so-far-and-what-we-still-have-to-learn
#2
Divi Cornec, Emilie Cornec-Le Gall, Ulrich Specks
The prognosis of the antineutrophil cytoplasmic antibody associated vasculitides (AAV), microscopic polyangiitis (MPA), granulomatosis with polyangiitis (GPA) and eosinophilic GPA (EGPA), has been fundamentally improved over the last five decades by the use of glucocorticoids and immunosuppressants, turning them from consistently fatal diseases into chronic conditions. The long-term course is now largely determined by the frequency of disease flares and by accruing damage caused by disease activity and treatment-related comorbidities...
January 12, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28087401/how-the-eucerd-joint-action-supported-initiatives-on-rare-diseases
#3
REVIEW
Stephen Lynn, Victoria Hedley, Antonio Atalaia, Teresinha Evangelista, Kate Bushby
Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, we will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action ("Orphanet Europe"). EUCERD Joint Action was co-funded by the EC and the Member States between 2012 and 2015 to help to define the activities and policies in the field of Rare Diseases and foster exchange of experiences amongst Member States...
January 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28079853/solely-lung-involved-igg4-related-disease-a-case-report-and-review-of-the-literature
#4
Xiao-Qin Zhang, Guo-Ping Chen, Sheng-Chang Wu, Sa Yu, Hong Wang, Xuan-Yi Chen, Zhuo-Chao Ren
By analyzing the clinical data of 1 case of IgG4-related lung disease(IgG4-RLD) and the review of literature, the author investigated the clinical characteristics of IgG4-RLD. IgG4-RLD is a rare disease characterized by significant elevation of serum IgG4 and infiltration of a large number of IgG4+ plasma cells. The clinical manifestations of the disease were nonspecific, and the imaging features were mixed with several types. The disease can only be involved in the lung, but also multiple organ involvement...
December 23, 2016: Sarcoidosis, Vasculitis, and Diffuse Lung Diseases: Official Journal of WASOG
https://www.readbyqxmd.com/read/28077497/bone-material-strength-index-as-measured-by-impact-microindentation-is-altered-in-patients-with-acromegaly
#5
Frank Malgo, Neveen Hamdy, Ton J Rabelink, H Kroon, Kim M J A Claessen, Alberto M Pereira, N R Biermasz, Natasha M Appelman-Dijkstra
OBJECTIVE: Acromegaly is a rare disease caused by excess growth hormone (GH) production by a pituitary adenoma. The skeletal complications of GH and IGF-1 excess include increased bone turnover, increased cortical bone mass and deteriorated microarchitecture of trabecular bone, associated with a high risk of vertebral fractures in the presence of relatively normal Bone Mineral Density (BMD). We aimed to evaluate tissue-level properties of bone using impact microindentation (IMI) in well-controlled patients with acromegaly aged ≥18 years compared to 44 controls from the outpatient clinic of the Centre for Bone Quality...
January 11, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28074766/-herpes-simplex-encephalitis
#6
Laura Krogh Jørgensen, Trine Hyrup Mogensen
Herpes simplex encephalitis (HSE) is a rare disease, although it is the most common form of sporadic encephalitis worldwide. Recently, studies have provided important new insight into the genetic and immunological basis of HSE. However, even in the presence of antiviral treatment, mortality and morbidity remain relatively high. Therefore, precise and early diagnosis together with basic and clinical studies to gain better insight into the pathogenesis of HSE is a prerequisite for the development of improved prophylaxis and treatment of this severe disease...
January 9, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28074454/obturator-hernia-should-be-considered-in-the-differential-diagnosis-of-hip-and-knee-pain
#7
Ahmet Korkut Belli, Gündüz Memiş, Özcan Dere, Ulaş Koşan, Okay Nazlı
Obturator hernia is a rare disease usually occurring in debilitated elderly women. Pain radiating down the medial thigh and knee (Howship-Romberg sign) is a specific sign of the disease. Presently described is a case of obturator hernia in a 73-year-old female patient who presented with severe left hip pain radiating down the medial thigh and knee, nausea, and loss of appetite. Initially, vertebral disc herniation was thought to be cause, but abdomino-pelvic computed tomography scan revealed left strangulated obturator hernia...
November 2016: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/28072736/von-hippel-lindau-disease-involving-pancreas-and-biliary-system-a-rare-case-report
#8
Xu-Ting Zhi, Qi-Yu Bo, Feng Zhao, Dong Sun, Tao Li
RATIONALE: Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. VHL patients are prone to develop benign and malignant tumors and cysts in multiple organ systems involving kidneys, pancreas and central nervous system (CNS). The varied and complex clinical manifestations and radiological findings of VHL are of interest. PATIENT CONCERNS: We report a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28072711/the-coexistence-of-sapho-syndrome-and-rheumatoid-arthritis-a-case-report
#9
Wenrui Xu, Chen Li, Weihong Zhang
RATIONAL: SAPHO (Synovitis-Acne-Pustulosis-Hyperstosis-Osteitis) syndrome is a rare disease featured by its dermatological and osteoarthritic disorders, the latter of which mainly affecting the anterior chest wall, spine, and sacroiliac joint. However, rheumatoid arthritis (RA) is a chronic autoimmune disease, mainly affecting the synovial tissue of small joints in hands and feet. Here, we present an extremely rare case diagnosed with both SAPHO syndrome and RA, with an onset interval of 10 years...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28072696/cerebroretinal-microangiopathy-with-calcifications-and-cysts-a-case-report
#10
Wenrui Xu, Jiuliang Zhao, Yicheng Zhu, Weihong Zhang
RATIONAL: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28070877/idiopathic-retroperitoneal-fibrosis-and-its-overlap-with-igg4-related-disease
#11
REVIEW
Giovanni Maria Rossi, Rossana Rocco, Eugenia Accorsi Buttini, Chiara Marvisi, Augusto Vaglio
Retroperitoneal fibrosis (RPF) is a rare disease characterised by fibrous tissue proliferation in the retroperitoneum, with encasement of the ureters and large vessels of the abdomen as the most destructive of potentially severe complications. It can either be idiopathic, or secondary to infections, malignancies, or the use of certain drugs. The idiopathic form accounts for approximately 75% of the cases, and is usually responsive to immunosuppressive therapy. In recent years, the emergence of a new clinical entity, IgG4-related disease (IgG4-RD), shed light on many fibro-inflammatory disorders once thought to be separate clinical entities, although frequently associated in the so-called multifocal fibrosclerosis...
January 9, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28069279/masitinib-for-treatment-of-severely-symptomatic-indolent-systemic-mastocytosis-a-randomised-placebo-controlled-phase-3-study
#12
Olivier Lortholary, Marie Olivia Chandesris, Cristina Bulai Livideanu, Carle Paul, Gérard Guillet, Ewa Jassem, Marek Niedoszytko, Stéphane Barete, Srdan Verstovsek, Clive Grattan, Gandhi Damaj, Danielle Canioni, Sylvie Fraitag, Ludovic Lhermitte, Sophie Georgin Lavialle, Laurent Frenzel, Lawrence B Afrin, Katia Hanssens, Julie Agopian, Raphael Gaillard, Jean-Pierre Kinet, Christian Auclair, Colin Mansfield, Alain Moussy, Patrice Dubreuil, Olivier Hermine
BACKGROUND: Indolent systemic mastocytosis, including the subvariant of smouldering systemic mastocytosis, is a lifelong condition associated with reduced quality of life. Masitinib inhibits KIT and LYN kinases that are involved in indolent systemic mastocytosis pathogenesis. We aimed to assess safety and efficacy of masitinib versus placebo in severely symptomatic patients who were unresponsive to optimal symptomatic treatments. METHODS: In this randomised, double-blind, placebo-controlled, phase 3 study, we enrolled adults (aged 18-75 years) with indolent or smouldering systemic mastocytosis, according to WHO classification or documented mastocytosis based on histological criteria, at 50 centres in 15 countries...
January 6, 2017: Lancet
https://www.readbyqxmd.com/read/28065902/princess-privacy-protecting-rare-disease-international-network-collaboration-via-encryption-through-software-guard-extensions
#13
Feng Chen, Shuang Wang, Xiaoqian Jiang, Sijie Ding, Yao Lu, Jihoon Kim, S Cenk Sahinalp, Chisato Shimizu, Jane C Burns, Victoria J Wright, Eileen Png, Martin L Hibberd, David D Lloyd, Hai Yang, Amalio Telenti, Cinnamon S Bloss, Dov Fox, Kristin Lauter, Lucila Ohno-Machado
MOTIVATION: We introduce PRINCESS, a privacy-preserving international collaboration framework for analyzing rare disease genetic data that are distributed across different continents. PRINCESS leverages Software Guard Extensions (SGX) and hardware for trustworthy computation. Unlike a traditional international collaboration model, where individual-level patient DNA are physically centralized at a single site, PRINCESS performs a secure and distributed computation over encrypted data, fulfilling institutional policies and regulations for protected health information...
January 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28065244/advances-in-evaluation-of-cognitive-impairment-in-patients-with-cushing-s-disease
#14
Wei-Yu Mao, Hui You, Bing Xing, Hui-Juan Zhu, Feng Feng
Cushing's disease (CD) is a relatively rare disease,characterized by pathological hypercortisolism secondary to excessive adrenocorticotrophic hormone that is secreted by pituitary adrenocorticotrophic hormone adenoma or hyperplasia. In addition to the typical clinical symptoms such as moon face,buffalo hump,and central obesity,the CD patients may also experience mental disorders and cognitive dysfunction. This review mainly focuses on the cognitive state of CD patients,the mechanisms of cognitive impairment caused by high cortisol levels,and the imaging findings (especially magnetic resonance imaging) for the evaluation of cognitive functions...
December 20, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28063144/undifferentiated-carcinoma-of-the-ampulla-of-vater
#15
Misuzu Yamada, Daisuke Furukawa, Naoki Yazawa, Hideki Izumi, Yoshihito Masuoka, Taro Mashiko, Yoshiaki Kawaguchi, Masami Ogawa, Yohei Kawashima, Tetsuya Mine, Kenichi Hirabayashi, Toshio Nakagohri
Undifferentiated carcinoma of the ampulla of Vater is a rare disease with unclear and clinical characteristics and prognosis. Here, we report the case of a 61-year-old man with undifferentiated carcinoma of the ampulla of Vater. He presented to our hospital with an increase in hepatobiliary system enzymes that was detected during a health check-up. Imaging and endoscopy demonstrated a tumor with ulcer in the ampulla of Vater, which was diagnosed as a carcinoma by biopsy. No distant metastasis was observed. Subtotal stomach-preserving pancreaticoduodenectomy was performed...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28062874/-gallbladder-agenesis-case-report-and-a-literature-review
#16
Robert Ordóñez-Samaniego, Miguel Puga-Tejada
Gallbladder agenesis is a rare disease, which its symptomatology emulates biliary pathology. It is presented between 0.007 to 0.027% of those patients in whom a cholecystectomy is performed. After it, its evolution is asymptomatic. We present the case of a 19 years old female patient with clinical presentationof cholelithiasis. Ultrasound reveals scleroatrophic vesicle. Elective cholecystectomy was performed,but the gallbladder was not found. The patient presented an asymptomatic evolution in the postoperative period and in the annual follow-up...
October 2016: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28062545/a-review-of-estrogen-receptor-androgen-receptor-genomics-in-male-breast-cancer
#17
Tesa M Severson, Wilbert Zwart
Male breast cancer is a rare disease, of which little is known. In contrast to female breast cancer, the very vast majority of all cases are positive for Estrogen Receptor alpha (ERα), implicating the function of this steroid hormone receptor in tumor development and progression. Consequently, adjuvant treatment of male breast cancer revolves around inhibition of ERα. In addition, the Androgen Receptor (AR) gradually receives more attention as a relevant novel target in breast cancer treatment. Importantly, the rationale of treatment-decision making is strongly based on parallels with female breast cancer...
January 6, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28061985/multiple-myeloma-epidemiology-and-survival-a-unique-malignancy
#18
REVIEW
Dickran Kazandjian
Multiple myeloma (MM), although a rare disease, is the second most common hematologic malignancy. It is found in the spectrum of plasma cell dyscrasias, which begins with monoclonal gammopathy of unknown significance (MGUS) to overt plasma cell leukemia and extramedullary myeloma. MM is associated with significant morbidity due to its end-organ destruction. It is a disease of the older population and its incidence in the African American population is twice that of the European American population. Improvements in the treatment of MM in the past couple of decades, beginning with the use of autologous stem cell transplantation followed by availability of novel treatments such as immunomodulatory drugs (ImIDs) and proteasome inhibitors (PIs) has transformed the natural history of the disease leading to longer survival times...
December 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/28058078/extramammary-paget-s-disease-of-anal-canal-associated-with-rectal-adenoma-without-invasive-carcinoma
#19
Vaibhav Chumbalkar, Timothy A Jennings, Sanaz Ainechi, Edward C Lee, Hwajeong Lee
Extramammary Paget's disease (EMPD) is a rare disease which is found in apocrine-rich locations such as anogenital region, axilla and rarely in other sites. Perianal EMPD is often reported as the involvement of perianal skin, but involvement of anal mucosa is very rare. Based on pathogenesis and association with either synchronous or metachronous malignancy, EMPD can be divided into primary and secondary types. Treatment approach for these two types of Paget's disease and their prognosis is different, thus it is important to make the distinction...
December 2016: Gastroenterology Research
https://www.readbyqxmd.com/read/28057766/rapid-degradation-of-mutant-slc25a46-by-the-ubiquitin-proteasome-system-results-in-mfn1-2-mediated-hyperfusion-of-mitochondria
#20
Janos Steffen, Ajay A Vashisht, Jijun Wan, Joanna C Jen, Steven M Claypool, James A Wohlschlegel, Carla M Koehler
SCL25A46 is a member of the mitochondrial carrier protein that surprisingly localizes to the outer membrane and is distantly related to Ugo1. Here we show that a subset of SLC25A46 interacted with mitochondrial dynamics components and the MICOS complex. Decreased expression of SLC25A46 resulted in increased stability and oligomerization of MFN1 and MFN2 on mitochondria, promoting mitochondrial hyperfusion. A mutation at L341P caused rapid degradation of SLC25A46 that manifested as a rare disease, pontocerebellar hypoplasia...
January 5, 2017: Molecular Biology of the Cell
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