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"Rare diseases"

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https://www.readbyqxmd.com/read/28819484/-spontaneous-splenic-rupture-about-a-case-and-review-of-the-literature
#1
Safae El Abbadi, Fatima Zahra Rhouni, Laila Jroundi
This study reports a case of spontaneous subcapsular splenic ruptured hematoma (with hemoperitoneum) and provides update on this rare disease. Non-traumatic ruptures can be fatal. Diagnosis is sometimes difficult. They often reveal an underlying pathology including infections, tumors or hematologic disorders. Symptomatology commonly has an abrupt onset but progressive forms are also possible. The majority of patients undergo splenectomy.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28818836/the-care-continuum-an-evolving-model-for-care-and-research-in-rare-diseases
#2
Erika F Augustine, E Ray Dorsey, Peter L Saltonstall
No abstract text is available yet for this article.
August 17, 2017: Pediatrics
https://www.readbyqxmd.com/read/28818730/enterohepatic-fistula-in-a-crohn-s-disease-patient-a-case-report
#3
Justin T Van Backer, Edward C Lee
INTRODUCTION: Fistulous tracts are a hallmark of Crohn's Disease. However, solid organ to intestinal fistulas are rare with previously few case reports of colosplenic fistulas and one case report of an enterohepatic fistula. PRESENTATION OF CASE: We review the available literature and present the first case report of an enterohepatic fistula in a female with Crohn's Disease to be treated operatively. The patient did well postoperatively with complete resolution of her fistula...
August 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28817866/genomic-medicine-in-primary-care
#4
Catherine Hajek
Genomic medicine is a powerful tool with great potential to improve outcomes in the primary care setting. From a broad perspective, genomic medicine can be applied to rare disease, common disease and pharmacogenetics. There are applications in which it can be used to better identify rare disease, improve screening for common disease, reduce adverse drug effects and help to identify the right medication more quickly. This article provides specific examples of clinical applications for genomic medicine in the realm of cardiovascular disease to provide a better understanding of its potential use in primary care...
2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28816960/successful-open-reduction-and-internal-fixation-for-displaced-femoral-fracture-in-a-patient-with-osteopetrosis-case-report-and-lessons-learned
#5
Jiangfa Huang, Jianke Pan, Mingtao Xu, Shuchai Xu
RATIONALE: Osteopetrosis is a rare disease that predominantly occurs in descendants of inbreeding families. In the case of fractures happen in patients with osteopetrosis, the choice between operative or conservative treatment is still controversial. Open reduction and internal fixation (ORIF) is a conventional treatment for fractures, and it possesses more applicability than conservative treatment. During this surgical treatment, ensure that bone union in the right way is pivotal to success and simultaneously prevents refracture and displacement after the operation...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28815894/challenges-of-developing-and-conducting-clinical-trials-in-rare-disorders
#6
REVIEW
Lucas Kempf, Jonathan C Goldsmith, Robert Temple
Rare disease drug development is a rapidly expanding field. Clinical researchers in rare diseases face many challenges when conducting trials in small populations. Disease natural history is often poorly understood and the ability to detect clinically meaningful outcomes requires understanding of their rate of occurrence and variability, both of which contribute to difficulties in powering a study. Standard trial designs are not optimized to obtain adequate safety and efficacy data from small numbers of patients, so alternative designs (enrichment, crossover, adaptive, N-of 1) need to be considered...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815401/abdominal-infection-reveals-a-rare-disease
#7
Clara Benedetta Conti, Mirella Fraquelli, Dario Conte
No abstract text is available yet for this article.
August 16, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28814660/sustained-immune-tolerance-induction-in-enzyme-replacement-therapy-treated-crim-negative-patients-with-infantile-pompe-disease
#8
Zoheb B Kazi, Ankit K Desai, Kathryn L Berrier, R Bradley Troxler, Raymond Y Wang, Omar A Abdul-Rahman, Pranoot Tanpaiboon, Nancy J Mendelsohn, Eli Herskovitz, David Kronn, Michal Inbar-Feigenberg, Catherine Ward-Melver, Michelle Polan, Punita Gupta, Amy S Rosenberg, Priya S Kishnani
BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA IgG antibodies; however, safety, likelihood of success, and long-term efficacy of ITI in a larger cohort remain unknown...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28814510/a-heterologous-model-of-thrombospondin-type-1-domain-containing-7a-associated-membranous-nephropathy
#9
Nicola M Tomas, Catherine Meyer-Schwesinger, Hanning von Spiegel, Ahmed M Kotb, Gunther Zahner, Elion Hoxha, Udo Helmchen, Nicole Endlich, Friedrich Koch-Nolte, Rolf A K Stahl
Thrombospondin type 1 domain-containing 7A (THSD7A) is a target for autoimmunity in patients with membranous nephropathy (MN). Circulating autoantibodies from patients with THSD7A-associated MN have been demonstrated to cause MN in mice. However, THSD7A-associated MN is a rare disease, preventing the use of patient antibodies for larger experimental procedures. Therefore, we generated antibodies against the human and mouse orthologs of THSD7A in rabbits by coimmunization with the respective cDNAs. Injection of these anti-THSD7A antibodies into mice induced a severe nephrotic syndrome with proteinuria, weight gain, and hyperlipidemia...
August 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28814322/critical-appraisal-of-arguments-for-the-delayed-start-design-proposed-as-alternative-to-the-parallel-group-randomized-clinical-trial-design-in-the-field-of-rare-disease
#10
Loukia M Spineli, Eva Jenz, Anika Großhennig, Armin Koch
BACKGROUND: A number of papers have proposed or evaluated the delayed-start design as an alternative to the standard two-arm parallel group randomized clinical trial (RCT) design in the field of rare disease. However the discussion is felt to lack a sufficient degree of consideration devoted to the true virtues of the delayed start design and the implications either in terms of required sample-size, overall information, or interpretation of the estimate in the context of small populations...
August 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28812537/leveraging-network-analytics-to-infer-patient-syndrome-and-identify-causal-genes-in-rare-disease-cases
#11
Andreas Krämer, Sohela Shah, Robert Anthony Rebres, Susan Tang, Daniel Rene Richards
BACKGROUND: Next-generation sequencing is widely used to identify disease-causing variants in patients with rare genetic disorders. Identifying those variants from whole-genome or exome data can be both scientifically challenging and time consuming. A significant amount of time is spent on variant annotation, and interpretation. Fully or partly automated solutions are therefore needed to streamline and scale this process. RESULTS: We describe Phenotype Driven Ranking (PDR), an algorithm integrated into Ingenuity Variant Analysis, that uses observed patient phenotypes to prioritize diseases and genes in order to expedite causal-variant discovery...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28811338/emerging-functions-of-the-fanconi-anemia-pathway-at-a-glance
#12
REVIEW
Rhea Sumpter, Beth Levine
Fanconi anemia (FA) is a rare disease, in which homozygous or compound heterozygous inactivating mutations in any of 21 genes lead to genomic instability, early-onset bone marrow failure and increased cancer risk. The FA pathway is essential for DNA damage response (DDR) to DNA interstrand crosslinks. However, proteins of the FA pathway have additional cytoprotective functions that may be independent of DDR. We have shown that many FA proteins participate in the selective autophagy pathway that is required for the destruction of unwanted intracellular constituents...
August 15, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28809753/an-occult-ectopic-parathyroid-adenoma-in-a-pediatric-patient-a-case-report-and-management-algorithm
#13
Brent D Bauman, Maria Evasovich, Amanda Louiselle, Eugene Zheng, Kevin Goodwin, Miroslav Sekulic, Faqian Li, Raphael Andrade, Bradley J Segura
BACKGROUND: Hyperparathyroidism (HPT) is a rare disease in the pediatric population, and optimal management may be unclear if it is due to an occult parathyroid adenoma. We present a case report of a pediatric patient with an occult, ectopic, supernumerary, parathyroid adenoma. CASE PRESENTATION: A 13-year-old female who initially presented with anxiety was diagnosed with HPT. Preoperative imaging and bilateral neck exploration with four-gland biopsy were negative for any parathyroid adenoma...
August 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28809517/oesophagogastric-invagination
#14
J Zhang, Z Guan, P Zhang
Oesophagogastric invagination is a relatively rare disease that is primarily caused by a sliding hiatal hernia. We report a successfully treated case of oesophagogastric invagination caused by achalasia. Oesophagogastric invagination should be considered in patients complaining of upper abdominal discomfort.
August 15, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28808855/incidence-of-myocardial-infarction-and-stroke-in-acromegaly-patients-results-from-the-german-acromegaly-registry
#15
Christof Schöfl, David Petroff, Anke Tönjes, Martin Grussendorf, Michael Droste, Günter Stalla, Cornelia Jaursch-Hancke, Sylvère Störmann, Jochen Schopohl
PURPOSE: Acromegaly is a rare disease generally brought about by a benign tumour in the pituitary and characterized by growth hormone (GH) and insulin-like growth factor 1 (IGF-1) excess. Increased mortality has been related to cardiovascular events that could be linked to these hormones and patients suffer from high rates of diabetes and hypertension. In this study, we examine if the incidence of myocardial infarction (MI) and stroke differ from that of the general population. METHODS: Data from the German Acromegaly Registry in seven specialized endocrine centres were analysed (n = 479, 56% female, 46 years old at diagnosis, 5549 person-years from diagnosis)...
August 14, 2017: Pituitary
https://www.readbyqxmd.com/read/28808651/evaluation-of-acute-aortic-dissection-type-a-factors-and-comparison-the-postoperative-clinical-outcomes-between-two-surgical-methods
#16
Hasan Shemirani, Amir Mirmohamadsadeghi, Behzad Mahaki, Sadaf Farhadi, Reza Mohseni Badalabadi, Peyman Bidram, Mehdi Mohseni Badalabadi
BACKGROUND: Although aortic dissection is a rare disease, it causes high level of mortality. If ascending aorta gets involved in this disease, it is known as type A. According to small number of studies about this disease in Iran, this study conducted to detect the factors related to acute aortic dissection type A, its surgery consequences and the factors affecting them. MATERIALS AND METHODS: In this historical cohort study, all patients having acute aortic dissection type A referring to Chamran Hospital from 2006 to 2012 were studied...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28806381/congenital-salivary-fistula-from-parotid-main-gland
#17
Dong Hoon Lee, Tae Mi Yoon, Joon Kyoo Lee, Sang Chul Lim
Congenital parotid fistulas are extremely rare diseases. Herein, the authors report a patient with congenital salivary fistula from parotid main gland in a 15-year-old boy. Therefore, clinicians should consider the possibility of congenital parotid fistula form parotid main gland. Surgical excision of the fistula and parotid gland can be effective treatment option of congenital parotid fistula.
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28806025/brain-tuberculoma-a-case-report-and-literature-review
#18
Khalil Aloreidi, Jamal Dodin, Jeremy Berg, Wendell Hoffman
We are reporting on a rare case of central nervous system tuberculosis (TB) in the state of South Dakota. Our case features one of the most infrequent forms of TB in the brain: multiple tuberculomas. A 44-year-old immunocompetent man was admitted complaining of a headache and fever for a week. His physical exam was unremarkable. A magnetic resonance imaging scan of his brain showed two ring-enhancing lesions. The largest lesion was excised surgically and the histopathology exam was consistent with tuberculoma...
July 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28805541/lack-of-foxe3-coding-mutation-in-a-case-of-congenital-aphakia
#19
Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Ko-Hei Sonoda, Hiroyuki Kondo
PURPOSE: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene. METHODS: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing. RESULTS: The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment...
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28804660/large-granular-lymphocytic-leukemia-a-report-of-response-to-rituximab
#20
Uroosa Ibrahim, Sara Parylo, Shiksha Kedia, Shafinaz Hussein, Jean Paul Atallah
Large granular lymphocytic (LGL) leukemia is a rare form of low grade leukemia characterized by large cytotoxic T cells or natural killer cells on morphological examination. Immunosuppressive therapy is employed as first-line therapy. Treatment options in refractory cases include the anti-CD52 antibody alemtuzumab and purine analogues. We report a rare case that responded to the anti-CD20 monoclonal antibody rituximab. A 77-year-old female presented with complaints of fatigue, fever, and chills of 3 months' duration...
2017: Case Reports in Hematology
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