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https://www.readbyqxmd.com/read/28550623/malignant-tumors-associated-with-juvenile-polyposis-syndrome-in-japan
#1
REVIEW
Hideyuki Ishida, Keiichiro Ishibashi, Takeo Iwama
PURPOSE: The risk of malignant tumors developing in association with juvenile polyposis syndrome (JPS) was evaluated to explore the optimal treatment for this rare disease. METHODS: We reviewed the data on JPS cases reported in Japan between January, 1971 and March, 2016. RESULTS: A total of 171 cases were evaluable. Of these 171 patients, 83 (48.5%) were female and the median age at diagnosis was 28 years (range 1-80 years). The polyps were located in the stomach alone (n = 62; 36...
May 26, 2017: Surgery Today
https://www.readbyqxmd.com/read/28550026/localized-adult-ewing-sarcoma-favorable-outcomes-with-alternating-vincristine-doxorubicin-cyclophosphamide-and-ifosfamide-etoposide-vdc-ie-based-multimodality-therapy
#2
Jennifer L Pretz, Constance M Barysauskas, Suzanne George, Jason L Hornick, Chandrajit P Raut, Yen-Lin E Chen, Karen J Marcus, Edwin Choy, Francis Hornicek, John E Ready, Thomas F DeLaney, Elizabeth H Baldini
BACKGROUND: In children with localized Ewing sarcoma (ES), addition of ifosfamide and etoposide to cyclophosphamide, doxorubicin, and vincristine (VDC/IE) improved 5-year overall survival (OS) to 70%-80%. Prior to delivery of VDC/IE in adults, 5-year OS was <50%. We reviewed our institutional outcomes for adults with ES who received VDC/IE-based treatment. MATERIALS AND METHODS: Between 1997-2013, 67 adults with localized ES were treated with curative intent...
May 26, 2017: Oncologist
https://www.readbyqxmd.com/read/28549479/engaging-the-canadian-public-on-reimbursement-decision-making-for-drugs-for-rare-diseases-a-national-online-survey
#3
Julie Polisena, Michael Burgess, Craig Mitton, Larry D Lynd
BACKGROUND: Funding of drugs for rare diseases (DRDs) requires decisions that balance fairness for all individuals within the healthcare system with compassion for affected individuals. Our study objective was to conduct a national online survey to determine the Canadian public's perspective, including regional variations, associated with DRD decision-making. METHODS: The survey collected responses from 1631 Canadians. Respondents were asked to rank at least three and up to five DRD decision-making priorities, out of a total of eight priorities presented...
May 26, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28546572/corrigendum-mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#4
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
No abstract text is available yet for this article.
May 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28546061/primary-biliary-cholangitis-advances-in-management-and-treatment-of-the-disease
#5
Pietro Invernizzi', Annarosa Floreani, Marco Carbone, Marco Marzioni, Antonio Craxi, Luigi Muratori, Umberto Vespasiani Gentilucci, Ivan Gardini, Antonio Gasbarrini, Paola Krugeri, Francesco Saverio Mennini, Virginia Ronco, Elena Lanati, Pier Luigi Canonico, Domenico Alvaro
Primary Biliary Cholangitis, previously known as Primary Biliary Cirrhosis, is a rare disease, which mainly affects women in their fifth to seventh decades of life. It is a chronic autoimmune disease characterized by a progressive damage of interlobular bile ducts leading to ductopenia, chronic cholestasis and bile acids retention. Even if the disease usually presents a long asymptomatic phase and a slow progression, in many patients it may progress faster toward cirrhosis and its complications. The 10year mortality is greater than in diseases such as human immunodeficiency virus/Hepatitis C Virus coinfection and breast cancer...
May 8, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28545928/sitosterolemia-a-multifaceted-metabolic-disorder-with-important-clinical-consequences
#6
Eleftheria Tzavella, Eleftheria Hatzimichael, Christina Kostara, Eleni Bairaktari, Moses Elisaf, Vasilis Tsimihodimos
Sitosterolemia is a metabolic disorder characterized by increased intestinal absorption and tissue accumulation of phytosterols. Although sitosterolemia is considered a rare disease, its prevalence may be significantly higher than initially thought. Indeed, accumulating evidence suggests that patients with unexplained hematologic abnormalities or premature cardiovascular disease in the absence of classic risk factors may exhibit disordered phytosterol metabolism. In this review, we present a patient with sitosterolemia, describe the pathophysiology and the clinical picture of this disorder, and discuss the clinical value of phytosterol supplementation in patients with primary dyslipidemias...
April 30, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28545486/depression-in-patients-with-sapho-syndrome-and-its-relationship-with-brain-activity-and-connectivity
#7
Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang
BACKGROUND: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the first paper to explore the episode and the neurobiological basis of depression symptoms in SAPHO patients using resting state functional magnetic resonance imaging (rs-fMRI). Twenty-eight SAPHO patients and fifteen age- and gender- matched normal controls (NC) were consecutively submitted to psychiatric evaluation and rs-fMRI scanning...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28545482/a-plea-to-provide-best-evidence-in-trials-under-sample-size-restrictions-the-example-of-pioglitazone-to-resolve-leukoplakia-and-erythroplakia-in-fanconi-anemia-patients
#8
Florian Lasch, Kristina Weber, Mwe Mwe Chao, Armin Koch
In planning a clinical trial for demonstrating the efficacy of pioglitazone to resolve leukoplakia and erythroplakia in Fanconi anemia patients we had to discuss the need for a randomized controlled trial particularly under sample-size restrictions as very promising results were available from a single-arm clinical trial. Unfortunately, at a later stage, we had to suffer from the fact that single-arm clinical trials may sometimes mislead. When revisiting our planning at a later stage of a grant application, results of a randomized controlled trial had become available which were less impressive, but may still be of clinical interest...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28541598/pediatric-melody-mitral-valve-replacement-in-acute-endocarditis-alternative-surgical-hybrid-technique
#9
Ireneusz Haponiuk, Maciej Chojnicki, Radosław Jaworski, Mariusz Steffens, Konrad Paczkowski, Aneta Szofer-Sendrowska, Marta Paśko-Majewska, Katarzyna Gierat-Haponiuk, Anna Romanowicz, Wiktor Szymanowicz
BACKGROUND AND AIM: Acute endocarditis (AE) is still rare disease in pediatric population, nevertheless the children suffering from AE usually need heart valves repair or replacement in emergency settings. METHODS: We present a case of emergency mitral valve replacement with the use of Melody balloon expandable stented bioprosthesis in a 2-years-old patient with acute endocarditis, subsequent mitral (bicuspid) valve incompetence after aggressive infective destruction with the symptoms of critical multiorgan failure...
May 25, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28540347/interdisciplinary-management-of-head-and-neck-vascular-anomalies-clinical-presentation-diagnostic-findings-and-minimalinvasive-therapies
#10
REVIEW
Maliha Sadick, Walter A Wohlgemuth, Roland Huelse, Bettina Lange, Thomas Henzler, Stefan O Schoenberg, Haneen Sadick
OBJECTIVES: Vascular anomalies are included in the 30 000 rare diseases worldwide affecting less than 5/10 000 people. Depending on their morphology and biological properties, they can cause varied disorders with organ involvement. Almost 60% of vascular anomalies have a predilection for the head and neck region in children. Clinical and scientific effort to establish interdisciplinary management concepts for vascular anomalies is increasing worldwide. METHODS: Especially in the head and neck region, clinical impairment and organ dysfunction is associated with cosmetic issues that may represent a physical and psychological issue for the patient...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28540151/methicillin-resistant-staphylococcus-aureus-sacroiliac-joint-septic-arthritis-in-an-adult-patient-treated-with-daptomycin
#11
Ramy Rashed, Fizan Younis
Sacroiliac joint septic arthritis is a rare disease entity representing 1-2% of all cases of septic arthritis. Establishment of the diagnosis is often challenging given the non-specific presenting features and the potential cross-over with other pathologies. We report the case of a 50 year old gentleman who suffers with psoriasis and presented with sacroiliac joint septic arthritis complicated by Methicillin Resistant Staphylococcus Aureus (MRSA) bacteraemia and an iliopsoas abscess. This was successfully treated conservatively with a course of the novel antibiotic Daptomycin...
2017: J Bone Jt Infect
https://www.readbyqxmd.com/read/28540098/combined-treatment-of-a-gallbladder-volvulus-with-a-common-bile-duct-obstruction
#12
M Laydi, K Charpentier, B Paquette, B Heyd
Gallbladder volvulus is a rare disease and can lead to an acute cholecystitis. We report the case of an elderly woman with a gallbladder volvulus, diagnosed at CT scan and treated by surgery and endoscopic sphincterotomy.
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/28539991/importance-of-surgical-margin-in-the-outcomes-of-hepatocholangiocarcinoma
#13
Ka Wing Ma, Kenneth Siu Ho Chok
AIM: To evaluate the significance of resection margin width in the management of hepatocholangiocarcinoma (HCC-CC). METHODS: Data of consecutive patients who underwent hepatectomy for hepatic malignancies in the period from 1995 to 2014 were reviewed. Patients with pathologically confirmed HCC-CC were included for analysis. Demographic, biochemical, operative and pathological data were analyzed against survival outcomes. RESULTS: Forty-two patients were included for analysis...
May 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28538402/dissection-extending-from-extra-to-intracranial-arteries-a-case-report-of-progressive-ischemic-stroke
#14
Fu-Liang Zhang, Zhen-Ni Guo, Yang Liu, Yun Luo, Yi Yang
RATIONALE: Cervicocephalic artery dissections, once considered a rare disease, have become increasingly recognized as a cause of stroke in young and middle-aged individuals. Early diagnosis is mandatory because anticoagulation or antithrombotic therapy can help prevent primary or secondary ischemic events. However, the diagnosis is still a crucial challenge for radiologists and neurologists. PATIENT CONCERNS: We reported a rare case of 33-year-old patient with progressive ischemic stroke due to dissection from an intimal tear in the right proximal internal carotid artery to distal middle cerebral artery...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28538178/wolf-hirschhorn-syndrome-candidate-1-is-necessary-for-correct-hematopoietic-and-b-cell-development
#15
Elena Campos-Sanchez, Nerea Deleyto-Seldas, Veronica Dominguez, Enrique Carrillo-de-Santa-Pau, Kiyoe Ura, Pedro P Rocha, JungHyun Kim, Arafat Aljoufi, Anna Esteve-Codina, Marc Dabad, Marta Gut, Holger Heyn, Yasufumi Kaneda, Keisuke Nimura, Jane A Skok, Maria Luisa Martinez-Frias, Cesar Cobaleda
Immunodeficiency is one of the most important causes of mortality associated with Wolf-Hirschhorn syndrome (WHS), a severe rare disease originated by a deletion in chromosome 4p. The WHS candidate 1 (WHSC1) gene has been proposed as one of the main genes responsible for many of the alterations in WHS, but its mechanism of action is still unknown. Here, we present in vivo genetic evidence showing that Whsc1 plays an important role at several points of hematopoietic development. Particularly, our results demonstrate that both differentiation and function of Whsc1-deficient B cells are impaired at several key developmental stages due to profound molecular defects affecting B cell lineage specification, commitment, fitness, and proliferation, demonstrating a causal role for WHSC1 in the immunodeficiency of WHS patients...
May 23, 2017: Cell Reports
https://www.readbyqxmd.com/read/28536863/chemical-exposure-and-infant-leukaemia-development-of-an-adverse-outcome-pathway-aop-for-aetiology-and-risk-assessment-research
#16
REVIEW
Olavi Pelkonen, Andrea Terron, Antonio F Hernandez, Pablo Menendez, Susanne Hougaard Bennekou
Infant leukaemia (<1 year old) is a rare disease of an in utero origin at an early phase of foetal development. Rearrangements of the mixed-lineage leukaemia (MLL) gene producing abnormal fusion proteins are the most frequent genetic/molecular findings in infant B cell-acute lymphoblastic leukaemia. In small epidemiological studies, mother/foetus exposures to some chemicals including pesticides have been associated with infant leukaemia; however, the strength of evidence and power of these studies are weak at best...
May 23, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28536234/actinomycosis-presenting-as-an-anterior-abdominal-mass-after-laparoscopic-cholecystectomy
#17
Zainab Alhumoud, Amro Salem
Abdominal actinomycosis is a rare disease caused by different anaerobic Actinomyces species. We report the case of a 55-year-old woman who presented with a painless, slow growing, left upper abdominal mass that developed after a laparoscopic cholecystectomy. A CT scan and MRI of the abdomen revealed a desmoid tumour of the left rectus abdominis muscle.Surgical excision was performed with an uneventful postoperative course. The histological analysis of the specimen was inconsistent with a desmoid tumour and revealed an infection of Actinomyces israelii in the anterior abdominal wall that was confirmed with a microbiology culture...
May 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28536222/giant-cell-myocarditis-presenting-with-acute-heart-failure
#18
Ioannis Kasouridis, Joaquim Majo, Guy MacGowan, Andrew L Clark
Idiopathic giant cell myocarditis (GCM) is a rare and rapidly progressing form of myocarditis predominantly affecting younger people. We report a case of a 23-year-old athletic patient who presented with features of acute heart failure due to GCM and discuss his management that included a left ventricular assist device as a bridge to transplant. He died immediately following the transplant.We also review the literature on this rare disease, highlighting the advances in the management of the disease including immunosuppressive therapy, ventricular assist devices and heart transplantation...
May 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28535294/hgva-the-human-genome-variation-archive
#19
Javier Lopez, Jacobo Coll, Matthias Haimel, Swaathi Kandasamy, Joaquin Tarraga, Pedro Furio-Tari, Wasim Bari, Marta Bleda, Antonio Rueda, Stefan Gräf, Augusto Rendon, Joaquin Dopazo, Ignacio Medina
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation Archive (HGVA) tackles these challenges and facilitates access to genomic data for key reference projects in a clean, fast and integrated fashion...
May 23, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28535181/everolimus-with-paclitaxel-and-carboplatin-as-first-line-treatment-for-metastatic-large-cell-neuroendocrine-lung-carcinoma-a-multicenter-phase-ii-trial
#20
P Christopoulos, W Engel-Riedel, C Grohé, C Kropf-Sanchen, J von Pawel, S Gütz, J Kollmeier, W Eberhardt, D Ukena, V Baum, I Nimmrich, C Sieder, P A Schnabel, M Serke, M Thomas
Background: Large cell neuroendocrine carcinoma of the lung (LCNEC) is a rare disease with poor prognosis and limited treatment options. Neuroendocrine tumors frequently show overactivation of the mTOR pathway. Based on the good activity of the mTOR inhibitor everolimus in different types of neuroendocrine tumors and the results of a previous phase I trial we evaluated the efficacy and safety of everolimus in combination with carboplatin and paclitaxel as upfront treatment for patients with advanced LCNEC...
May 23, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
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