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"Rare diseases"

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https://www.readbyqxmd.com/read/29678425/myopericytoma-of-the-base-of-the-finger-radiological-and-pathological-description-of-a-rare-benign-entity
#1
Laurent Van Camp, Jean Goubau, Ivo Van den Berghe, Koen Mermuys
A previously healthy 46-year-old woman presented with a mass lesion between the bases of the fourth and fifth fingers of the right hand. The mass had grown progressively over 2 years and started to cause practical difficulties in everyday life. Imaging depicted a hypervascular and well-circumscribed soft tissue tumor with imaging characteristics of a sarcoma. The lesion was treated surgically. The final diagnosis of the specimen upon pathology was a myopericytoma, a benign smooth-muscle cell neoplasm. Myopericytoma is a rare disease entity; however, it is important because it can mimic more ominous conditions...
April 17, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29678136/decreased-quality-of-life-and-societal-impact-of-cryopyrin-associated-periodic-syndrome-treated-with-canakinumab-a-questionnaire-based-cohort-study
#2
Catharina M Mulders-Manders, Tim A Kanters, Paul L A van Daele, Esther Hoppenreijs, G Elizabeth Legger, Jan A M van Laar, Anna Simon, Leona Hakkaart-van Roijen
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a rare disease. Knowledge on the quality of life (QoL) and the disease's societal impact is limited. Canakinumab is used in increasing frequency for the treatment of CAPS. METHODS: Observational study in Dutch CAPS patients. Patients completed questionnaires regarding treatment with canakinumab at baseline and retrospectively. Quality of life was assessed using the EQ-5D-5L in adults and CHQ-PF50 in children...
April 20, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29678099/mapping-of-health-care-providers-for-people-with-rare-diseases-from-vision-to-implementation
#3
Johanna Schaefer, Niels Tegtbauer, Wulf Pfeiffer, Thomas O F Wagner, Holger Storf
se-atlas - the health service information platform for rare diseases - is part of the German National Action Plan for People with Rare Diseases. The website www.se-atlas.de provides an overview of health care providers and support groups focusing on rare diseases in Germany. Since the start of se-atlas in 2013, several strategies are being developed and evaluated. This paper gives an overview about the expectations and visions for se-atlas at the beginning of the project, the challenges and lessons learned within the project period and how se-atlas is implemented today...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29677958/conception-of-an-expert-advisory-board-for-the-european-reference-network-for-rare-respiratory-diseases
#4
Désirée Walther, Olivia Steinmann, Johanna Schaefer, Thomas O F Wagner, Holger Storf
Due to low prevalence of rare diseases and lack of expertise, patients suffering rare diseases are challenged with finding experts that are specialized and experienced in treating their conditions and get qualified answers. To address this issue, the approach of an interactive platform was made, which should allow affected patients or physicians the possibility to ask experts their specific questions to gather and improve their knowledge about their condition. This paper introduces the pan-European Internet platform EXABO, an Expert Advisory Board, which is developed within the framework of the European Reference Network for rare respiratory diseases (ERN-LUNG)...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29676872/-osteoarticular-tuberculosis-nosology-and-diagnostic-pitfalls
#5
C Kabore, M Poncin, B Hurtgen, F Moerman, M Moonen
Osteoarticular or skeletal tuberculosis is a clinical manifestation of extrapulmonary tuberculosis, occurring during the lympho-hematogenous spread of Mycobacterium tuberculosis from a pulmonary primary infection or reactivation of latent infection, years or even decades after the initial infection. Bone and joint tuberculosis is a rare disease with non-specific symptoms and radiological characteristics, often delaying diagnosis for more than a year after clinical onset. First-line hospital departments should develop a clinical suspicion when confronted with a subacute inflammatory bone or joint pathology in patients with underlying comorbidities, especially when coming from tuberculosis-endemic countries...
April 2018: Revue Médicale de Liège
https://www.readbyqxmd.com/read/29676715/-european-reference-networks-for-rare-diseases
#6
J R Vos, W A G van Zelst-Stams, N Hoogerbrugge
Approximately one million patients in the Netherlands and 27-36 million patients in Europe have one of the 5,000-8,000 known rare diseases. These patients often do not receive the care they need or with a substantial delay from diagnosis to treatment. As of March 2017, 24 European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross-border healthcare, where in principle the knowledge travels and not the patient. It is expected that through the ERNs, European patients with a rare disease get more often and more quickly access to expert care and that it will accelerate guideline development and research...
2018: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/29673918/-day-hospital-in-internal-medicine-a-chance-for-ambulatory-care
#7
A Grasland, E Mortier
INTRODUCTION: Internal medicine is an in-hospital speciality. Along with its expertise in rare diseases, it shares with general medicine the global care of patients but its place in the ambulatory shift has yet to be defined. The objective of our work was to evaluate the benefits of an internal medicine day-hospital devoted to general medicine. METHODS: Named "Centre Vi'TAL" to underline the link between the city and the hospital, this novel activity was implemented in order to respond quickly to general practitioners having difficulties to synthesize their complex patients or facing diagnostic or therapeutic problems...
April 16, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29673407/hypercalcemia-as-a-rare-presentation-of-angioimmunoblastic-t-cell-lymphoma-a-case-report
#8
Sana Chams, Inaya Hajj Hussein, Skye El Sayegh, Nour Chams, Khalid Zakaria
BACKGROUND: Angioimmunoblastic T cell lymphoma is a rare malignancy, accounting for only 2% of all non-Hodgkin lymphomas, first described in the 1970s and subsequently accepted as a distinct entity in the current World Health Organization classification. Due to the paucity of this disease, there is still no identifiable etiology, no consistent risk factors, and the pathogenesis remains unclear. CASE PRESENTATION: An 83-year-old Caucasian man presented to an emergency department with palpitations and was found to have atrial fibrillation...
April 20, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29670208/allohsct-for-inv-3-q21-q26-t-3-3-q21-q26-aml-a-report-from-the-acute-leukemia-working-party-of-the-european-society-for-blood-and-marrow-transplantation
#9
Kazimierz Halaburda, Myriam Labopin, Mohamed Houhou, Dietger Niederwieser, Jürgen Finke, Liisa Volin, Johan Maertens, Jan J Cornelissen, Noel Milpied, Gernot Stuhler, Nicolaus Kröger, Jordi Esteve, Mohamad Mohty, Arnon Nagler
Acute myeloid leukemia with inv(3)(q21;q26.2)/t(3;3)(q21;q26.2) (3q26 AML) is a rare disease with poor prognosis and median survival of <1 year. To evaluate allogeneic stem cell transplantation (alloHSCT) in the treatment of 3q26 AML, we studied 98 patients reported to the European Society for Blood and Marrow Transplantation between 1995 and 2013. Majority of patients were transplanted using peripheral blood, from unrelated donors and after myeloablative conditioning. Fifty-three patients were transplanted with active disease and 45 in complete remission...
April 18, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29669771/transverse-testicular-ectopia-with-persistent-mullerian-duct-syndrome
#10
Archit Gupta, Prince Raj, Rajinder Singh Jhobta
Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism caused by defects in synthesis or actions of mullerian inhibiting factor characterised by persistence of mullerian duct structures in a normal karyotype male. Transverse testicular ectopia (TTE) is a rare disease in which both testes are located in the same inguinal canal. We report a case of PMDS with TTE in a 1-year-old child who presented with non-palpable testis on right side with hernia on left side. Left herniotomy with bilateral trans-septal orchidopexy was done in this patient...
April 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29669674/community-views-on-factors-affecting-medicines-resource-allocation-cross-sectional-survey-of-3080-adults-in-australia
#11
Lesley Chim, Glenn Salkeld, Patrick J Kelly, Wendy Lipworth, Dyfrig A Hughes, Martin R Stockler
Objective The aim of the present study was to determine Australian community views on factors that influence the distribution of health spending in relation to medicines. Methods A cross-sectional web-based survey was performed of 3080 adults aged ≥18 years. Participants were asked to rank, in order of importance, 12 criteria according to which medicines funding decisions may be made. Results Of all respondents, 1213 (39.4%) considered disease severity to be the most important prioritisation criterion for funding a new medicine...
April 19, 2018: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/29669532/pulmonary-lymphangioleimyomatosis-and-systemic-lupus-erythematosus-in-a-menopausal-woman
#12
Hong Hong, Ruiheng Yang, Xiuzhen Li, Mengjun Wang, Zhongchao Ma
BACKGROUND: Pulmonary lymphangioleimyomatosis (PLAM) is a rare disease involving lung. PLAM primarily affects young women, a characteristic it shares with systemic lupus erythematosus (SLE). Estrogen has long been assumed to play an important role both in PLAM and SLE. We report a menopausal woman, who was found to have PLAM 1 year after she was diagnosed with SLE. Her chest radiograph was normal in the early phase of SLE. CASE PRESENTATION: A 52-year-old Chinese woman was referred to our hospital in August 2014 because of swelling in both legs...
April 18, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29668580/metastatic-epithelioid-trophoblastic-tumor-of-the-lung-a-case-report
#13
Wangjun Lei, Fangbiao Zhang, Chunhui Zheng, Chun Zhao, Shaosong Tu, Yingwei Bao
RATIONALE: Epithelioid trophoblastic tumor (ETT) is a very rare form of gestational trophoblastic disease (GTD) which arises from neoplastic proliferation of intermediate trophoblasts. Metastatic ETT of the lung is extremely rare in postmenopausal women. PATIENT CONCERNS: Here we describe a 50-year-old woman with a metastatic ETT of the lung showing increasing tracer uptake at PET/CT. DIAGNOSIS: Hematoxylin-eosin staining showed a tumor composed of nests of epithelioid cells with necrotic debris and peritumoral hyaline-like material...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29668480/the-6th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-11th-2017
#14
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth, spodilocostal dysplasia, precocious puberty has been done with collaboration of Macedonian and foreign researchers...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29668475/rare-renal-disease-in-macedonia-an-update
#15
Velibor Tasic, Zoran Gucev, Momir Polenakovic
Rare renal diseases (RRD) are an important category of rare disease (RD) as they can do great damage to the patients, families and society. The patient may undergo years even decades of numerous investigations including invasive procedures and yet not have definitive and precise diagnose and therefore, no opportunity for appropriate treatment. The great progress in molecular genetic techniques characterized many Mendelian diseases on molecular level. This gave the possibility for appropriate prevention and treatment interventions, genetic counseling and prenatal diagnosis...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29668449/budgetary-impact-of-medicinal-therapies-for-rare-diseases-in-bulgaria
#16
Georgi G Iskrov, Mihajlo Michael Jakovljevic, Rumen S Stefanov
BACKGROUND: Rare diseases have been continually outlined as one of the causes for the National Health Insurance Fund's (NHIF) deficit spending in Bulgaria. AIM: To estimate the budgetary impact of rare disease medicinal therapies from NHIF perspective for 2014 and 2016. MATERIALS AND METHODS: Budgetary impact of rare diseases is calculated as a percentage of NHIF total pharmaceutical spending. Total expenditure per ICD-10 code, mean annual number of patients reimbursed and mean annual cost per patient are analysed...
March 1, 2018: Folia Medica
https://www.readbyqxmd.com/read/29667901/successful-resection-of-a-giant-thoracic-myxoid-liposarcoma
#17
Wei Chieng Pui, Winnie Hui Yee Ling, Momin Najah, Sing Yang Soon
Primary liposarcoma is an extremely rare disease. We report a case of giant thoracic myxoid liposarcoma that occupied the whole left hemithorax and was successfully resected. We discuss the surgical considerations and difficulties encountered, and how we overcome these challenges. This is the third largest thoracic myxoid liposarcoma resection reported, weighing 4 kg.
January 1, 2018: Asian Cardiovascular & Thoracic Annals
https://www.readbyqxmd.com/read/29667367/how-to-use-prior-knowledge-and-still-give-new-data-a-chance
#18
Kristina Weber, Rob Hemmings, Armin Koch
A common challenge for the development of drugs in rare diseases and special populations, eg, paediatrics, is the small numbers of patients that can be recruited into clinical trials. Extrapolation can be used to support development and licensing in paediatrics through the structured integration of available data in adults and prospectively generated data in paediatrics to derive conclusions that support licensing decisions in the target paediatric population. In this context, Bayesian analyses have been proposed to obtain formal proof of efficacy of a new drug or therapeutic principle by using additional information (data, opinion, or expectation), expressed through a prior distribution...
April 17, 2018: Pharmaceutical Statistics
https://www.readbyqxmd.com/read/29666959/carney-complex-a-case-with-thyroid-follicular-adenoma-without-a-prkar1a-mutation
#19
Shinji Hattori, Yukou Yamane, Ryoichi Shimomura, Yuki Uchida, Nobuhiko Toyota, Yoshio Miura, Setsujyo Shiota, Yoshitsugu Tajima
BACKGROUND: Carney complex (CNC) is a very rare disease. Although thyroid lesions are included in the diagnostic criteria for CNC, they are an infrequent occurrence. CASE PRESENTATION: The patient was a 69-year-old woman who had undergone the removal of a left atrial myxoma 10 years earlier, at the age of 59. At the time of the operation, thyroid ultrasonography (US) revealed multiple hypoechoic nodules. Thyroid scintigraphy revealed an increased uptake of 99m Tc in these lesions, which was consistent with toxic multinodular goiter, and she was diagnosed with CNC...
April 17, 2018: Surgical Case Reports
https://www.readbyqxmd.com/read/29665800/mda-5-associated-rapidly-progressive-interstitial-lung-disease-with-recurrent-pneumothoraces-a-case-report
#20
Safi Alqatari, Peter Riddell, Sinead Harney, Michael Henry, Grainne Murphy
BACKGROUND: Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific antibodies could be negative, but with high clinical suspicion, myositis associated antibodies should be ordered. Anti-MDA-5 antibodies was reported in literature to be associated with severe and rapidly progressive interstitial lung disease, with few case reports of pneumothorax and/or pneumomediastinum...
April 17, 2018: BMC Pulmonary Medicine
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