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"Rare diseases"

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https://www.readbyqxmd.com/read/28339729/how-to-monitor-safety-and-efficacy-of-biologic-treatment-in-rare-therapy-refractory-immune-mediated-inflammatory-diseases-making-the-right-clinical-decisions-for-rare-diseases-with-the-right-tools
#1
https://www.readbyqxmd.com/read/28339516/improving-a-full-text-search-engine-the-importance-of-negation-detection-and-family-history-context-to-identify-cases-in-a-biomedical-data-warehouse
#2
Nicolas Garcelon, Antoine Neuraz, Vincent Benoit, Rémi Salomon, Anita Burgun
Objective: The repurposing of electronic health records (EHRs) can improve clinical and genetic research for rare diseases. However, significant information in rare disease EHRs is embedded in the narrative reports, which contain many negated clinical signs and family medical history. This paper presents a method to detect family history and negation in narrative reports and evaluates its impact on selecting populations from a clinical data warehouse (CDW). Materials and Methods: We developed a pipeline to process 1...
October 20, 2016: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28337510/-seven-years-of-the-national-action-league-for-people-with-rare-diseases-namse-a-success-story
#3
Alexandra Halbach, Birgit Schnieders, Karin Knufmann-Happe
It is estimated that four million people in Germany are living with a rare disease; in the EU, approximately 30 million people are affected. All rare diseases are chronic, linked to invalidity and/or restricted life expectancy, and their symptoms are often already manifest in childhood. Some 80% of rare diseases are genetically determined; they can rarely be cured. Furthermore, the pathogenesis of many rare diseases is unknown.In a move to ameliorate the situation of persons with rare diseases, the National Action League for People with Rare Diseases (NAMSE) published the National Plan of Action for People with Rare Diseases containing 52 measures that aim to achieve the desired improvements...
March 23, 2017: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/28336768/care-of-girls-and-women-with-turner-syndrome-beyond-growth-and-hormones
#4
Caroline Culen, Diana-Allexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2,500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life...
March 23, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28331740/gestational-gigantomastia
#5
Halil Türkan, M Şehsuvar Gökgöz, İsmet Taşdelen, Halit Ziya Dündar
Gestational gigantomastia is a rare condition characterized by fast, disproportionate and excessive breast growth, decreased quality of life in pregnancy, and presence of psychologic as well as physical complications. The etiology is not fully understood, although hormonal changes in pregnancy are considered responsible. Prolactin is the most important hormone. To date, 125 cases of gigantomastia have been reported in the literature. In this case presentation, we report a pregnant woman aged 26 years with a 22-week gestational age with gestational gigantomastia and review the diagnosis and treatment of this rare disease in relation with the literature...
April 2016: J Breast Health (2013)
https://www.readbyqxmd.com/read/28331364/silicone-induced-granuloma-of-breast-implant-capsule-sigbic-similarities-and-differences-with-anaplastic-large-cell-lymphoma-alcl-and-their-differential-diagnosis
#6
REVIEW
Eduardo de Faria Castro Fleury, Milena Morais Rêgo, Luciana Costa Ramalho, Veronica Jorge Ayres, Rodrigo Oliveira Seleti, Carlos Alberto Pecci Ferreira, Decio Roveda
Primary breast lymphoma is a rare disease and accounts for 0.5% of cases of breast cancer. Most primary breast lymphomas develop from B cells, and the involvement of T cells is rare. Anaplastic large cell lymphoma (ALCL) is a recently discovered T-cell lymphoma associated with breast implants. Only a few cases have been reported to date. It is believed that the incidence of ALCL is increasing because of the increasing number of breast implants. The clinical presentation is variable and can manifest as a palpable mass in the breast or armpit, breast pain, or capsular contracture...
2017: Breast Cancer: Targets and Therapy
https://www.readbyqxmd.com/read/28330551/-thalassaemia-and-pregnancy
#7
Viktoriya Luk'yanenko, Marjoes Droogh, Ulrik Malthe Overgaard
Global migration has resulted in a larger geographical spread of people with risk of hereditary anaemias. This leads to an increased incidence of pregnant women with rare diseases, including thalassaemia also in Scandinavia. Thalassaemia can cause severe anaemia and other complications during pregnancy, like risk of miscarriage, intrauterine fetal death, abruptio, intrauterine growth retardation, hypertension, gestational diabetes and pre-eclampsia. In this article, we focus on the aetiology, assessment, antenatal care and treatment of pregnant women with thalassaemia...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28329921/neuroendocrine-tumors-in-the-stomach-duodenum-and-pancreas-accompanied-by-novel-men1-gene-mutation
#8
Min A Yang, Woong Ki Lee, Hong Shik Shin, Sung Hyun Park, Byung Sun Kim, Ji Woong Kim, Jin Woong Cho, So Hee Yun
Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma...
March 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28329598/successful-treatment-of-melkersson-rosenthal-syndrome-with-dapsone-a-case-report-and-review-of-the-literature
#9
Nazan Emiroglu, Ozlem Su, Fatma Pelin Cengiz, Nahide Onsun
Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by a triad of relapsing or persistent orofacial edema, recurrent lower motor neuron facial nerve palsy and fissured tongue. Acute, painless, non-erythematosus orofacial edema is observed in all patients. We report a case of a 13-year-old girl who presented with a 2-year history of swelling of the upper lip, facial paralysis, and fissured tongue; she was treated successfully with dapsone.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329458/type-iv-total-anomalous-pulmonary-venous-connection
#10
James D St Louis, Elizabeth M Turk, Jeffrey P Jacobs, James E O'Brien
BACKGROUND: Mortality associated with correction of type IV total anomalous pulmonary venous connection (TAPVC) is generally reported in combination with other anatomic types. The objective of this study is to review surgical outcomes associated with the repair of type IV TAPVC by analyzing a multi-institutional cohort specific for this group. We also analyze patient-specific variables that may contribute to poor operative outcomes. METHODS: A retrospective review of the Pediatric Cardiac Care Consortium (PCCC) registry identified patients who underwent repair of type IV TAPVC between 1982 and 2007...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#11
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327690/kyasanur-forest-disease-kfd-rare-disease-of-zoonotic-origin
#12
M Muraleedharan
Kyasanur forest disease (KFD) is a rare tick borne zoonotic disease that causes acute febrile hemorrhagic illness in humans and monkeys especially in southern part of India. The disease is caused by highly pathogenic KFD virus (KFDV) which belongs to member of the genus Flavivirus and family Flaviviridae. The disease is transmitted to monkeys and humans by infective tick Haemaphysalisspinigera. Seasonal outbreaks are expected to occur during the months of January to June. The aim of this paper is to briefly summarize the epidemiology, mode of transmission of KFD virus, clinical findings, diagnosis, treatment, control and prevention of the disease...
September 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28327571/insights-from-early-experience-of-a-rare-disease-genomic-medicine-multidisciplinary-team-a-qualitative-study
#13
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, Jude Craft, Julian C Knight, John Taylor, Jenny C Taylor, Andrew Om Wilkie, Hugh Watkins
Whole-exome/whole-genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327420/segmental-arterial-mediolysis-with-5-splenic-artery-aneurysms-a-rare-finding-of-a-rare-disease-case-report-and-literature-review
#14
Salah Termos, Ali Taqi, Hussein Hayati, Ameera J M S Alhasan, Mohammad Alali, Ayman Adi
INTRODUCTION: Splenic artery aneurysms (SAA) are uncommon findings. They are usually single and isolated; however they can be multiple; hence vasculopathy and segmental artery mediolysis may be considered. PRESENTATION OF CASE: In our manuscript we present a case of a 54year old multiparous lady who was discovered incidentally to have a diseased splenic artery containing five SSAs. The largest aneurysm was close to the takeoff of the vessel and the smallest was distal embedded in the splenic hilum...
March 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28326212/a-case-of-conjunctival-amyloidosis-with-repeated-subconjunctival-hemorrhage
#15
Takaaki Ando, Toshiyuki Oshitari, Mamiko Saito, Ayako Tawada, Takayuki Baba, Jiro Yotsukura, Shuichi Yamamoto
Conjunctival amyloidosis is a very rare disease, and its presence may be a sign of systemic amyloidosis. We present our ocular and systemic findings in a patient with conjunctival amyloidosis. A 43-year-old man had repeated subconjunctival hemorrhages (SCHs) for two years and was referred to the Chiba University Hospital. He had comprehensive ophthalmological and systemic examinations to determine the cause of the SCHs. His visual acuities were 1.2 OU, and the intraocular pressures were 13-14 mmHg OU. Magnetic resonance imaging was normal...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/28324075/new-rare-diseases-screening-test
#16
Rebecca Voelker
No abstract text is available yet for this article.
March 21, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28323337/treatment-pathway-of-bone-sarcoma-in-children-adolescents-and-young-adults
#17
REVIEW
Damon R Reed, Masanori Hayashi, Lars Wagner, Odion Binitie, Diana A Steppan, Andrew S Brohl, Eric T Shinohara, Julia A Bridge, David M Loeb, Scott C Borinstein, Michael S Isakoff
When pediatric, adolescent, and young adult patients present with a bone sarcoma, treatment decisions, especially after relapse, are complex and require a multidisciplinary approach. This review presents scenarios commonly encountered in the therapy of bone sarcomas with the goal of objectively presenting a consensus, multidisciplinary management approach. Little variation was found in the authors' group with respect to local control or systemic therapy. Clinical trials were universally prioritized in all settings...
March 21, 2017: Cancer
https://www.readbyqxmd.com/read/28321893/dose-finding-methods-for-phase-i-clinical-trials-using-pharmacokinetics-in-small-populations
#18
Moreno Ursino, Sarah Zohar, Frederike Lentz, Corinne Alberti, Tim Friede, Nigel Stallard, Emmanuelle Comets
The aim of phase I clinical trials is to obtain reliable information on safety, tolerability, pharmacokinetics (PK), and mechanism of action of drugs with the objective of determining the maximum tolerated dose (MTD). In most phase I studies, dose-finding and PK analysis are done separately and no attempt is made to combine them during dose allocation. In cases such as rare diseases, paediatrics, and studies in a biomarker-defined subgroup of a defined population, the available population size will limit the number of possible clinical trials that can be conducted...
March 21, 2017: Biometrical Journal. Biometrische Zeitschrift
https://www.readbyqxmd.com/read/28321110/primary-pulmonary-diffuse-large-b-cell-non-hodgkin-s-lymphoma-a-case-report-and-literature-review
#19
Ziqiang Zhu, Wei Liu, Omar Mamlouk, James E O'Donnell, Debabrata Sen, Boris Avezbakiyev
BACKGROUND Primary pulmonary diffuse large B cell lymphoma (DLBCL) is extremely rare neoplasm representing only 0.5-1% of primary pulmonary malignancies. These patients usually have non-specific clinical presentation and radiological findings. Therefore, it is important to increase awareness of this rare disease, as the correct characterization of the tumors will have therapeutic and prognostic implications. CASE REPORT We present the case of a middle-aged Hispanic woman with chronic cough and an abnormal chest X-ray revealing a lung mass, who was found to have primary pulmonary DLBCL...
March 21, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28320476/developing-and-evaluating-rare-disease-educational-materials-co-created-by-expert-clinicians-and-patients-the-paradigm-of-congenital-hypogonadotropic-hypogonadism
#20
Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A Dwyer
BACKGROUND: Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism (CHH) and the olfacto-genital (Kallmann) syndrome (i.e., CHH and defective sense of smell), and to evaluate end-user acceptability. Expert clinicians, researchers and patients co-created the materials in a multi-step process...
March 20, 2017: Orphanet Journal of Rare Diseases
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