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https://www.readbyqxmd.com/read/28637129/patient-reported-outcomes-in-gne-myopathy-incorporating-a-valid-assessment-of-physical-function-in-a-rare-disease
#1
Christina Slota, Margaret Bevans, Li Yang, Joseph Shrader, Galen Joe, Nuria Carrillo
BACKGROUND: The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS: This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments...
February 7, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28636740/initial-experience-of-a-hereditary-hemorrhagic-telangiectasia-center-of-excellence
#2
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28634469/alexander-disease-mutations-produce-cells-with-coexpression-of-glial-fibrillary-acidic-protein-and-ng2-in-neurosphere-cultures-and-inhibit-differentiation-into-mature-oligodendrocytes
#3
Ulises Gómez-Pinedo, Maria Salomé Sirerol-Piquer, María Durán-Moreno, José Manuel García-Verdugo, Jorge Matias-Guiu
BACKGROUND: Alexander disease (AxD) is a rare disease caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP). The disease is characterized by presence of GFAP aggregates in the cytoplasm of astrocytes and loss of myelin. OBJECTIVES: Determine the effect of AxD-related mutations on adult neurogenesis. METHODS: We transfected different types of mutant GFAP into neurospheres using the nucleofection technique. RESULTS: We find that mutations may cause coexpression of GFAP and NG2 in neurosphere cultures, which would inhibit the differentiation of precursors into oligodendrocytes and thus explain the myelin loss occurring in the disease...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28634132/diagnosis-of-autoimmune-pancreatitis-the-evolution-of-diagnostic-criteria-for-a-rare-disease
#4
Suresh T Chari
No abstract text is available yet for this article.
June 17, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28634065/remote-lesions-of-synchronous-sacral-and-cervical-dural-arteriovenous-fistulas-a-case-report
#5
Yasuyuki Kaku, Yuki Ohmori, Takayuki Kawano, Yuki Takeshima, Jun-Ichi Kuratsu
BACKGROUND: Spinal dural arteriovenous fistula (DAVF) is a rare disease and multiple concurrent lesions are extremely rare. Such multiple spinal DAVFs have similar outflow routes at neighboring levels. However, there have been no reported cases of remote lesions of multiple spinal DAVFs. The authors herein report a case of double synchronous cervical and sacral DAVFs. CASE DESCRIPTION: A 56-year-old man with no prior history of disease presented with progressive myelopathy, and spinal magnetic resonance imaging (MRI) showed extensive edema of the spinal cord from the conus to T7...
June 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28633976/transnasal-endoscopic-removal-of-bilateral-postoperative-maxillary-cysts-after-aesthetic-orthognathic-ssurgery-differences-from-that-of-caldwell-luc-operations
#6
Hyung Chae Yang, Sung Hoon Kang, Sung Ho Yoon, Hyong-Ho Cho
Postoperative maxillary cysts (PMCs) after orthognathic surgery are a rare disease condition. In this study, we reported first case of bilateral PMCs after cosmetic orthognathic surgery which was treated via the intranasal endoscopic approach. In addition, we compared the characteristics of PMCs after aesthetic orthognathic surgery with those of PMCs after Caldwell-Luc operation. We expect that this case will be helpful to surgeons who encounter similar cases.
June 17, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28630525/a-bayesian-adaptive-design-for-clinical-trials-in-rare-diseases
#7
S Faye Williamson, Peter Jacko, Sofía S Villar, Thomas Jaki
Development of treatments for rare diseases is challenging due to the limited number of patients available for participation. Learning about treatment effectiveness with a view to treat patients in the larger outside population, as in the traditional fixed randomised design, may not be a plausible goal. An alternative goal is to treat the patients within the trial as effectively as possible. Using the framework of finite-horizon Markov decision processes and dynamic programming (DP), a novel randomised response-adaptive design is proposed which maximises the total number of patient successes in the trial and penalises if a minimum number of patients are not recruited to each treatment arm...
September 2017: Computational Statistics & Data Analysis
https://www.readbyqxmd.com/read/28629392/do-investors-value-the-fda-orphan-drug-designation
#8
Kathleen L Miller
BACKGROUND: The Orphan Drug Act is an important piece of legislation that uses financial incentives to encourage the development of drugs that treat rare diseases. This analysis studies the effects of a portion of the Orphan Drug Act, the orphan drug designation. Specifically, it studies the value that investors place on the orphan drug designation, by investigating how investors react to companies' announcing that their product has received the designation. RESULTS: The results, on average, show that the stock price of a company increases by 3...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28629121/creating-a-registry-for-patients-with-thoracic-outlet-syndrome
#9
Misty D Humphries
The creation of any patient database requires substantial planning. In the case of thoracic outlet syndrome, which is a rare disease, the Society for Vascular Surgery has defined reporting standards to serve as an outline for the creation of a patient registry. Prior to undertaking this task, it is critical that designers understand the basics of registry planning and a priori establish plans for data collection and analysis.
June 17, 2017: Diagnostics
https://www.readbyqxmd.com/read/28628256/cutaneous-involvement-in-luteinized-thecomas-with-sclerosing-peritonitis-ltsp-a-new-finding-in-a-rare-syndrome
#10
Jonathan D Ho, Jag Bhawan, Michael J O'Brien, Lynne J Goldberg
Luteinized thecomas with sclerosing peritonitis (LTSP) is a rare disease characterized by ovarian luteinized thecomas and associated fibrosing peritonitis. Cutaneous involvement has never been reported. We report a case of classical LTSP with skin involvement, outlining the clinical and histopathologic features of this novel presentation of a rare syndrome.
June 19, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28627968/severe-myelinopathy-in-49-xxxxy-syndrome
#11
Mark A Buller, Cory M Pfeifer
49,XXXXY is a rare aneuploidy with neuroanatomic findings scarcely reported in the literature. Given the fact that many of its phenotypic characteristics are similar to Klinefelter patients, 49,XXXXY has been treated as a variant of Klinefelter syndrome in the past. Newer studies have shown that intellectual disabilities and cardiac sequelae are more common in 49,XXXXY making the need for more precise characterization of the disorder essential. Prior case studies have demonstrated focal (and to a lesser extent confluent) white abnormalities as well as enlarged perivascular cysts (often in clustered arrangements) in the brains of these patients, but high resolution magnetic resonance images of severe myelinopathy are infrequently documented...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28627356/aquatic-therapy-for-children-with-duchenne-muscular-dystrophy-a-pilot-feasibility-randomised-controlled-trial-and-mixed-methods-process-evaluation
#12
Daniel Hind, James Parkin, Victoria Whitworth, Saleema Rex, Tracey Young, Lisa Hampson, Jennie Sheehan, Chin Maguire, Hannah Cantrill, Elaine Scott, Heather Epps, Marion Main, Michelle Geary, Heather McMurchie, Lindsey Pallant, Daniel Woods, Jennifer Freeman, Ellen Lee, Michelle Eagle, Tracey Willis, Francesco Muntoni, Peter Baxter
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare disease that causes the progressive loss of motor abilities such as walking. Standard treatment includes physiotherapy. No trial has evaluated whether or not adding aquatic therapy (AT) to land-based therapy (LBT) exercises helps to keep muscles strong and children independent. OBJECTIVES: To assess the feasibility of recruiting boys with DMD to a randomised trial evaluating AT (primary objective) and to collect data from them; to assess how, and how well, the intervention and trial procedures work...
May 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28626952/multivariate-binary-classification-of-imbalanced-datasets-a-case-study-based-on-high-dimensional-multiplex-autoimmune-assay-data
#13
Laura Schlieker, Anna Telaar, Angelika Lueking, Peter Schulz-Knappe, Carmen Theek, Katja Ickstadt
The classification of a population by a specific trait is a major task in medicine, for example when in a diagnostic setting groups of patients with specific diseases are identified, but also when in predictive medicine a group of patients is classified into specific disease severity classes that might profit from different treatments. When the sizes of those subgroups become small, for example in rare diseases, imbalances between the classes are more the rule than the exception and make statistical classification problematic when the error rate of the minority class is high...
June 19, 2017: Biometrical Journal. Biometrische Zeitschrift
https://www.readbyqxmd.com/read/28626124/two-cases-of-tuberous-sclerosis-complex-suggestive-of-complicating-multifocal-micronodular-pneumocyte-hyperplasia-a-case-report
#14
Chinatsu Nishida, Kazuhiro Yatera, Takashi Kido, Shingo Noguchi, Kentaro Akata, Minako Hanaka, Kei Yamasaki, Teppei Hoshino, Masayuki Shimono, Hiroshi Ishimoto, Noriho Sakamoto, Hiroshi Mukae
Multifocal micronodular pneumocyte hyperplasia (MMPH) is pathologically characterized by multifocal nodular hyperplasia of type Ⅱ pneumocyte-like cells. MMPH is usually complicated with tuberous sclerosis complex (TSC). MMPH patients tend to be asymptomatic or only slightly symptomatic. MMPH tends to progress slowly and needs no treatment. We herein describe two cases of MMPH with its characteristic radiological features and clinical manifestations of TSC. Case 1: a 20-year-old female with definitive TSC in infancy...
2017: Journal of UOEH
https://www.readbyqxmd.com/read/28626108/-a-case-of-partial-deletion-of-the-long-arm-of-chromosome-7
#15
Lin Yang, Ying Cheng, Qian Lin, Hong Zhang
Partial deletion of the long arm of chromosome 7 is a rare disease and is prone to missing the diagnosis or being misdiagnosed. Here we present a case of a 13-year-old boy that showed symptoms such as growth-retardation, moderate intellectual disability, hypotelorism, microcephaly, epicanthal folds, genu varum and lumbar vertebral cleft, but it did not show serious symptoms like cleft lip, urogenital malformation and hypotonia. He was eventually diagnosed as partial deletion of the long arm of chromosome 7 syndrome through gene analysis...
May 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28625904/subarachnoid-hemorrhage-due-to-distal-superior-cerebellar-artery-dissection-in-neurofibromatosis-type-1
#16
Yuki Takeshima, Yuki Ohmori, Takashi Nakagawa, Yasuyuki Kaku, Jun-Ichi Kuratsu, Shigetoshi Yano
BACKGROUND: Neurofibromatosis type 1 (NF1) is a rare disease with an incidence of one in every 3000 births. Numerous studies have focused on the main function of NF1 as a tumor suppressor, while few have examined the cerebrovascular abnormalities observed in patients with NF1. It is worth noting that intracranial aneurysms are uncommon in this condition. CASE DESCRIPTION: We report a case of NF1 with a dissection of the distal segment of the superior cerebellar artery...
June 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28625502/a-computable-phenotype-improves-cohort-ascertainment-in-a-pediatric-pulmonary-hypertension-registry
#17
Alon Geva, Jessica L Gronsbell, Tianxi Cai, Tianrun Cai, Shawn N Murphy, Jessica C Lyons, Michelle M Heinz, Marc D Natter, Nandan Patibandla, Jonathan Bickel, Mary P Mullen, Kenneth D Mandl
OBJECTIVES: To compare registry and electronic health record (EHR) data mining approaches for cohort ascertainment in patients with pediatric pulmonary hypertension (PH) in an effort to overcome some of the limitations of registry enrollment alone in identifying patients with particular disease phenotypes. STUDY DESIGN: This study was a single-center retrospective analysis of EHR and registry data at Boston Children's Hospital. The local Informatics for Integrating Biology and the Bedside (i2b2) data warehouse was queried for billing codes, prescriptions, and narrative data related to pediatric PH...
June 15, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28624375/non-hodgkin-s-lymphoma-and-atypical-neck-pain-a-case-report
#18
Natividad Rojas, Carlos Fernandes, Montse Conde, Nuria Montala, Xavier Fornos, Lluís Rosselló, Francésc Pallisó
Neck pain is a common reason for seeking medical attention. It affects at least 15% of the labor force and up to 40% of individuals whose occupation is hazardous. On the other hand, primary bone lymphoma is a very rare disease (less than 1% of all malignant bone tumors), and the relationship between the 2 has rarely been mentioned. We report the case of a patient who had a 1-month history of neck pain. The main symptom was pain on palpation of C2-C6 cervical spinous processes and contracture of the trapezius muscle that did not cease with conventional treatment...
June 14, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28623982/clinical-characteristics-and-prognostic-features-of-intravenous-leiomyomatosis-with-inferior-vena-cava-or%C3%A2-intracardiac-extension
#19
Guorui Zhang, Xin Yu, Honghui Shi, Qingbo Fan, Jinghe Lang, Bao Liu
OBJECTIVE: The aim of this study was to explore the clinical characteristics and prognostic features of intravenous leiomyomatosis (IVL) with inferior vena cava extension (IVCE) or intracardiac extension (ICE). METHODS: A retrospective analysis was conducted of the clinical data of 38 patients with pathologically diagnosed IVL with IVCE or ICE. RESULTS: The mean age of the patients was 44.05 ± 6.31 years. Twenty-two patients (57.9%) had a history of uterine leiomyoma...
July 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28623674/cathepsin-k-in-lymphangioleiomyomatosis-lam-cell-fibroblast-interactions-enhance-protease-activity-by-extracellular-acidification
#20
Arundhati Dongre, Debbie Clements, Andrew J Fisher, Simon R Johnson
Lymphangioleiomyomatosis (LAM) is a rare disease in which clonal LAM cells infiltrate the lungs and lymphatics. In association with recruited fibroblasts, LAM cells form nodules adjacent to lung cysts. It is hypothesized that LAM nodule-derived proteases lead to cyst formation. On protease gene-expression profiling in whole-lung tissue, cathepsin K was 40-fold overexpressed in LAM compared with control lungs (P ≤ 0.0001). Immunohistochemistry confirmed cathepsin K protein in LAM nodules but not in control lungs...
June 14, 2017: American Journal of Pathology
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