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https://www.readbyqxmd.com/read/28717927/erratum-to-ethical-aspects-of-clinical-trials-in-rare-diseases
#1
Joerg Hasford, Armin Koch
No abstract text is available yet for this article.
July 17, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28716013/long-term-renal-survival-of-%C3%AE-3-heavy-chain-deposition-disease-a-case-report
#2
Takayuki Katsuno, Shige Mizuno, Masatsuna Mabuchi, Naotake Tsuboi, Atsushi Komatsuda, Shoichi Maruyama
BACKGROUND: Monoclonal immunoglobulin deposition disease (MIDD) is characterized by the non-amyloid deposition of monoclonal immunoglobulin fragments in the basement membranes. Heavy chain deposition disease (HCDD) is a type of MIDD. HCDD is an extremely rare disease, and only three cases have been reported in Japan up to the present. The prognosis of HCDD is very poor, and optimal treatment has not been established. Only a few cases of HCDD with favorable long-term renal prognosis have been reported to date...
July 17, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28713270/evaluation-of-selected-cyp51a1-polymorphisms-in-view-of-interactions-with-substrate-and-redox-partner
#3
Tadeja Režen, Iza Ogris, Marko Sever, Franci Merzel, Simona Golic Grdadolnik, Damjana Rozman
Cholesterol is essential for development, growth, and maintenance of organisms. Mutations in cholesterol biosynthetic genes are embryonic lethal and few polymorphisms have been so far associated with pathologies in humans. Previous analyses show that lanosterol 14α-demethylase (CYP51A1) from the late part of cholesterol biosynthesis has only a few missense mutations with low minor allele frequencies and low association with pathologies in humans. The aim of this study is to evaluate the role of amino acid changes in the natural missense mutations of the hCYP51A1 protein...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28712905/endoscopic-endonasal-transsphenoidal-approach-for-the-removal-of-optochiasmatic-cavernoma-a-case-report-and-literature-review
#4
Xiaoli Meng, Xiaoli Feng, Jinghai Wan
BACKGROUND: Cavernoma of the optic chiasm is a rare disease, and the most common clinical presentation is chiasmal apoplexy. Almost all the cases reported in the literature were treated surgically with craniotomy. CASE DESCRIPTION: We report a case of optochiasmatic cavernoma successfully resected via an endoscopic endonasal transsphenoidal approach (EETA). CONCLUSIONS: Rapid diagnosis and complete resection of a symptomatic optochiasmatic cavernoma are helpful in improving visual dysfunction...
July 13, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28712613/patient-reported-outcome-and-observer-reported-outcome-assessment-in-rare-disease-trials
#5
EDITORIAL
Sarah Acaster
No abstract text is available yet for this article.
July 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28712612/patient-reported-outcome-and-observer-reported-outcome-assessment-in-rare-disease-clinical-trials-an-ispor-coa-emerging-good-practices-task-force-report
#6
Katy Benjamin, Margaret K Vernon, Donald L Patrick, Eleanor Perfetto, Sandra Nestler-Parr, Laurie Burke
BACKGROUND: Rare diseases (RDs) affect a small number of people within a population. About 5000 to 8000 distinct RDs have been identified, with an estimated 6% to 8% of people worldwide suffering from an RD. Approximately 75% of RDs affect children. Frequently, these conditions are heterogeneous; many are progressive. Regulatory incentives have increased orphan drug designations and approvals. OBJECTIVE: To develop emerging good practices for RD outcomes research addressing the challenges inherent in identifying, selecting, developing, adapting, and implementing patient-reported outcome (PRO) and observer-reported outcome (ObsRO) assessments for use in RD clinical trials...
July 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28710539/-treatment-outcomes-of-recurrent-respiratory-papillomatosis-retrospective-analysis-of-juvenile-and-adult-cases-german-version
#7
V-A Papaioannou, A Lux, S Voigt-Zimmermann, C Arens
BACKGROUND: Recurrent respiratory papillomatosis (RRP) is a rare, chronic disease of viral etiology which is characterized by multiple, recurrent growth of papillomas in the aerodigestive tract. MATERIALS AND METHODS: The surgical outcomes and the recurrence rates of 106 patients with RRP of the larynx were analyzed. The patients were treated at the University of Magdeburg between 1983 and 2014. The surgical outcomes of conventional and laser surgery regarding time to relapse and complications were compared...
July 14, 2017: HNO
https://www.readbyqxmd.com/read/28707833/-sarcoma-centres-a-necessary-tool-in-the-management-of-patients-and-for-research
#8
Stéphane Cherix, Frédéric Vauclair, Boris Morattel, Matthias Vautrin, Maurice Matter, Michael Montemurro, Antonia Digklia, Igor Letovanec, Patrick Omoumi, François Saucy, Michel Gonzalez, André-Dante Durham, Francesca Bosisio, Anja C Zyska Cherix, Hannes A Rudiger
Sarcomas are rare diseases, the treatment of which requires an appropriate technical plateform and a broad spectrum of multidisciplinary specialists. Many are initially treated by unplanned excision, and then referred to specialized centres. Secondary treatments may lead to higher complication rates and local recurrence, with lower functional outcome, life quality and possibly overall survival. In order to improve the accessibility for referral to a specialist centre, the coordination of clinical and research activities, and the quality of the management of sarcomas in general, Lausanne University Hospital (CHUV) has opened a Sarcoma centre on October 1st 2016...
December 14, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28707596/pseudomonas-aeruginosa-osteomyelitis-of-the-pubic-bone-a-case-report
#9
Raheleh Golrokhy, Saeed Jamali, Mehrnoosh Samaei, SeyedAhmad SeyedAlinaghi
Pubic osteomyelitis is a rare disease that typically occurs as a complication of various gynecologic and urologic surgeries. We present a 78 year old woman admitted to the Infectious Department of Imam Khomeini Hospital in June 2014 with pubic osteomyelitis caused by Pseudomonas aeruginosa followed by hysterectomy.
July 13, 2017: Infectious Disorders Drug Targets
https://www.readbyqxmd.com/read/28706870/management-of-ebstein-s-anomaly
#10
Irving L Kron, Mark Elliot Roeser
Ebstein malformation is a rare disease that presents with a spectrum of severity. We use a management paradigm that breaks the anomaly into two groups: neonates and children/adults. This leads to a discussion of management and operative techniques as well as pitfalls. We hope the reader finds our streamlined and logical approach of benefit to this complex and rare disease.
May 2017: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28705174/extensive-colorectal-lymphomatous-polyposis-complicated-by-acute-intestinal-obstruction-a-case-report
#11
Jaques Waisberg, Amanda do Val Anderi, Pedro Augusto Soffner Cardoso, José Henrique Miranda Borducchi, Demetrius Eduardo Germini, Maria Isete Fares Franco, Cidia Vasconcellos
BACKGROUND: Multiple lymphomatous polyposis is a rare type of gastrointestinal lymphoma that extensively infiltrates the intestine. Multiple lymphomatous polyposis originates from the mantle zone of the lymphoma follicle and is considered to be a mantle cell lymphoma, which is a relatively aggressive type of B-cell non-Hodgkin's lymphoma. We report an unusual case of a patient with multiple lymphomatous polyposis with extensive colorectal involvement and acute intestinal obstruction, an atypical complication of this rare disease...
July 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28704296/osteotomy-as-a-treatment-option-in-dysplasia-epiphyseal-hemimelica-of-the-distal-radius-a-case-report
#12
Juan J Dominguez-Amador, Francisco J Cordero-Arriaza, Magdalena Casas-Ruiz, José A Andrés-García
Dysplasia epiphysialis hemimelica (DEH), also known as Trevor disease, is a very rare disease characterized by an overgrowth of the osteocartilaginous epiphyseal caused by unknown factors. The medial side of the epiphysis is affected twice as often as the lateral side and more than one epiphysis was affected in two-thirds of the cases. Only a few cases of DEH in the upper extremities have been published, as the lower limb is usually the most affected, especially in the bones of the ankle joint. The symptoms vary from little significant deformities to symptomatic cases, pain, and decreased function depending on the location and the size of the lesion...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28703045/the-role-of-human-host-genetics-in-tuberculosis-resistance
#13
Craig Kinnear, Eileen G Hoal, Haiko Schurz, Paul D van Helden, Marlo Möller
Tuberculosis (TB) remains a public health problem: the latest estimate of new incident cases per year is a staggering 10.4 million. Despite this overwhelming number, the majority of the immunocompetent population can control infection with Mycobacterium tuberculosis. The human genome underlies the immune response and contributes to the outcome of TB infection. Areas covered: Investigations of TB resistance in the general population have closely mirrored those of other infectious diseases and initially involved epidemiological observations...
July 13, 2017: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/28701428/a-mercury-toxicity-case-complicated-by-hyponatremia-and-abnormal-endocrinological-test-results
#14
Matthew Carter, Abdul Abdi, Fareeha Naz, Farouq Thabet, Arpita Vyas
Mercury (Hg) poisoning is considered a rare disease by the National Institutes of Health and the diagnosis can present great challenges to clinicians. Children who are exposed to Hg can present with a wide variety of symptoms, including acrodynia, tremor, excessive salivation, and psychiatric symptoms, including insomnia. However, endocrinologic manifestations from Hg exposure are less well known. This is a case report of a 12-year-old boy who presented with body rash, irritability, insomnia, and profuse sweating after returning from a summer camp...
July 13, 2017: Pediatrics
https://www.readbyqxmd.com/read/28700417/genetics-of-paediatric-cardiomyopathies
#15
Stephanie M Ware
PURPOSE OF REVIEW: Paediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the paediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy. RECENT FINDINGS: With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified at a rapid rate...
July 11, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28699299/-matching-consent-to-purpose-the-example-of-the-matchmaker-exchange
#16
Stephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, Helen V Firth, Matthew Hurles, Michael Brudno, Kym M Boycott, Anthony A Philippakis, Heidi L Rehm
The Matchmaker Exchange (MME) connects rare disease clinicians and researchers to facilitate the sharing of data from undiagnosed patients for the purpose of novel gene discovery. Such sharing raises the odds that two or more similar patients with candidate genes in common may be found, thereby allowing their condition to be more readily studied and understood. Consent considerations for data sharing in MME included both the ethical and legal differences between clinical and research settings and the level of privacy risk involved in sharing varying amounts of rare disease patient data to enable patient matches...
June 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28698434/-the-role-of-novel-agents-in-the-treatment-of-soft-tissue-sarcoma
#17
Yoichi Naito
Soft tissue sarcomas are rare disease and the development of efficacious drug is urgently needed. The challenge is continuing, and recently 2 drugs, trabectedin and eribulin, were approved in Japan. Both drugs were investigated in patients with liposarcoma or leiomyosarcoma in randomized phase III trials as compared to dacarbazine. Eribulin was superior in terms of overall survival and trabectedin was superior in terms of progression-free survival compared to dacarbazine. This article reviews the efficacy and safety of both drugs...
June 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28698240/beyond-hormone-replacement-quality-of-life-in-women-with-congenital-hypogonadotropic-hypogonadism
#18
Shota Dzemaili, Jitske Tiemensma, Richard Quinton, Nelly Pitteloud, Diane Morin, Andrew Dwyer
OBJECTIVE: Little is known about how women with isolated GnRH deficiency cope with their condition. This study aimed to examine the health and informational needs of women with congenital hypogonadotropic hypogonadism (CHH) and evaluate if their experiences differ from women with more common forms of infertility. DESIGN: Cross-sectional, multiple methods study using web-based data collection to reach dispersed rare disease patients. METHODS: A community-based participatory research framework was employed to develop an online survey and collect quantitative and qualitative data...
July 11, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28697169/systemic-epstein-barr-virus-positive-t-cell-lymphoproliferative-disease-of-childhood-with-good-response-to-steroid-therapy
#19
Do-Hoon Kim, Myungshin Kim, Yonggoo Kim, Kyungja Han, Eunhee Han, Jae Wook Lee, Nack-Gyun Chung, Bin Cho
Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare disease and has a very fulminant clinical course with high mortality. A 21-month-old female patient was referred to our hospital with a 1 week history of fever and was subsequently diagnosed with systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood. After starting treatment with dexamethasone, she showed early defervescence and improvement of laboratory parameters, and has remained disease-free after stopping steroid treatment, although longer follow-up is necessary...
July 10, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28697096/expanded-carrier-screening-a-rational-approach-to-screening-for-rare-diseases
#20
Mary E Norton
No abstract text is available yet for this article.
July 7, 2017: Obstetrics and Gynecology
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