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"Rare diseases"

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https://www.readbyqxmd.com/read/29454079/a-novel-metric-that-quantifies-risk-stratification-for-evaluating-diagnostic-tests-the-example-of-evaluating-cervical-cancer-screening-tests-across-populations
#1
Hormuzd A Katki, Mark Schiffman
Our work involves assessing whether new biomarkers might be useful for cervical-cancer screening across populations with different disease prevalences and biomarker distributions. When comparing across populations, we show that standard diagnostic accuracy statistics (predictive values, risk-differences, Youden's index and Area Under the Curve (AUC)) can easily be misinterpreted. We introduce an intuitively simple statistic for a 2 × 2 table, Mean Risk Stratification (MRS): the average change in risk (pre-test vs...
February 14, 2018: Preventive Medicine
https://www.readbyqxmd.com/read/29453599/sequential-analysis-in-neonatal-research-systematic-review
#2
Sebastiano A G Lava, Valéry Elie, Phuong Thi Viet Ha, Evelyne Jacqz-Aigrain
As more new drugs are discovered, traditional designs come at their limits. Ten years after the adoption of the European Paediatric Regulation, we performed a systematic review on the US National Library of Medicine and Excerpta Medica database of sequential trials involving newborns. Out of 326 identified scientific reports, 21 trials were included. They enrolled 2832 patients, of whom 2099 were analyzed: the median number of neonates included per trial was 48 (IQR 22-87), median gestational age was 28.7 (IQR 27...
February 16, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29452451/botulinum-toxin-for-the-treatment-of-cyclic-strabismus-in-children-three-case-reports
#3
Monika Wipf, Corinne Bok-Beaube, Anja Palmowski-Wolfe
Cyclic strabismus is a rare disease of unknown origin. If untreated, it leads to manifest strabismus with the risk of amblyopia in children. Treatment is generally surgical. Here we report on three children in whom cyclic esotropia was successfully treated with one bimedial injection of 5 IU Botox ® . All patients remained orthotropic with good stereo functions at the last follow-ups at 16, 11, and 8 months. Botulinum toxin offered a minimally invasive treatment option in these patients.
February 16, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29450453/the-association-of-age-with-clinical-presentation-and-comorbidities-of-pyoderma-gangrenosum
#4
Hovik J Ashchyan, Daniel C Butler, Caroline A Nelson, Megan H Noe, William G Tsiaras, Stephen J Lockwood, William D James, Robert G Micheletti, Misha Rosenbach, Arash Mostaghimi
Importance: Pyoderma gangrenosum is an inflammatory neutrophilic dermatosis. Current knowledge of this rare disease is limited owing to a lack of validated diagnostic criteria and large population studies. Objective: To evaluate the association of age with the clinical presentation and comorbidities of pyoderma gangrenosum. Design, Setting, and Participants: This was a multicenter retrospective cohort study performed at tertiary academic referral centers in urban settings...
February 14, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29449337/alk1-activin-receptor-like-kinase-1-loss-results-in-vascular-hyperplasia-in-mice-and-humans-through-pi3k-phosphatidylinositol-3-kinase-activation
#5
Elisenda Alsina-Sanchís, Yaiza García-Ibáñez, Ana M Figueiredo, Carla Riera-Domingo, Agnès Figueras, Xavier Matias-Guiu, Oriol Casanovas, Luisa M Botella, Miquel A Pujana, Antoni Riera-Mestre, Mariona Graupera, Francesc Viñals
OBJECTIVE: ALK1 (activin-receptor like kinase 1) is an endothelial cell-restricted receptor with high affinity for BMP (bone morphogenetic protein) 9 TGF-β (transforming growth factor-β) family member. Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. Therapeutic strategies are aimed at reducing potential complications because of vascular malformations, but currently, there is no curative treatment for hereditary hemorrhagic telangiectasia...
February 15, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29447635/sublamina-densa-type-linear-iga-bullous-dermatosis-with-iga-autoantibodies-specific-for-type-vii-collagen-a-case-report-and-clinicopathological-review-of-32-cases
#6
Natsuko Utsunomiya, Takenao Chino, Noritaka Oyama, Akira Utsunomiya, Yuka Yamaguchi, Wataru Takashima, Atsushi Tokuriki, Minoru Hasegawa
Linear IgA bullous dermatosis (LABD) is a rare autoimmune bullous disorder characterized by linear deposits of IgA at the basement membrane zone(BMZ) and/or by circulating IgA anti-BMZ antibodies. Comparing with other immuno-bullous diseases, LABD represents a heterogeneous disease entitywith diversity of pathogenic IgA autoantibodies to different hemidesmosomal antigens and an association with malignancies and occasional drug use. We herein present an 82-year-old Japanese man with LABD, whose indirect immunofluorescence using 1M NaCl-split skin showed positive staining for IgA at the dermal side alone...
November 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29445842/-rare-diseases-in-dentistry-and-oral-medicine-report-on-the-2017-first-national-congress
#7
Marcel Hanisch, Susanne Jung, Johannes Kleinheinz
On November 25, the first national congress for rare diseases in dentistry and oral medicine under the auspices of ACHSE e. V. and Orphanet was held in Muenster. With speakers from the field of medicine, dentistry, politics, patient advocacy groups, self-help groups and persons concerned, a platform for exchange between physicians and patients on an equal footing was offered to the participants. At the end of each of the 12 lectures, more than 300 national and international guests discussed the various issues and perspectives related to the topic of rare diseases in dentistry and oral medicine...
February 14, 2018: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/29444511/analysis-of-10-adrenocortical-carcinoma-patients-in-the-cohort-of-the-precision-medicine-platform-mondti
#8
Markus Kieler, Leonhard Müllauer, Oskar Koperek, Daniela Bianconi, Matthias Unseld, Markus Raderer, Gerald W Prager
OBJECTIVE: Adrenocortical carcinoma (ACC) is a rare disease with a dismal prognosis. We aimed to evaluate if a personalized medicine approach may be useful for matching patients with ACC to targeted therapies. METHODS: This is an analysis of 10 molecularly profiled ACCs that were progressing under standard of care treatment. The profile consisted of a 50-gene next-generation sequencing panel, immunohistochemistry (IHC), and fluorescence in situ hybridization for several proteins or chromosomal aberrations...
February 14, 2018: Oncology
https://www.readbyqxmd.com/read/29442478/a-clinical-audit-diagnostic-and-epidemiological-evaluation-of-the-adrenal-incidentaloma-ai
#9
Vincenzo Nuzzo, Tiziana Attardo, Giuseppe Augello, Davide Brancato, Salvatore Camerlingo, Clelia Canale, Federica Coretti, Alessandro Franco, Francesco Giacometti, Maurizio Gambacorta, Massimo Loreno, Ada Maffettone, Vincenzo Provenzano, Alfonso Zuccoli
Audit is a clinical instrument of government characterized by a whole process of evaluation inter pares to improve medical behaviors in the clinical practice. Different endocrinopathies are underestimated in the clinical and diagnostics practice but they can be a real problem in patients admitted in the departments of Internal Medicine. The Adrenal Incidentaloma (AI) is an accidental discovery with an incidence equal to 4% in radiologic studies but it's rarely considereted in the internal disorders. In the departments of Internal Medicine are hospitalized each year approximately 1...
February 13, 2018: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29442298/communal-sharing-and-the-provision-of-low-volume-high-cost-health-services-results-of-a-survey
#10
Jeff Richardson, Angelo Iezzi, Gang Chen, Aimee Maxwell
INTRODUCTION: This paper suggests and tests a reason why the public might support the funding of services for rare diseases (SRDs) when the services are effective but not cost effective, i.e. when more health could be produced by allocating funds to other services. It is postulated that the fairness of funding a service is influenced by a comparison of the average patient benefit with the average cost to those who share the cost. METHODS: Survey respondents were asked to allocate a budget between cost-effective services that had a small effect upon a large number of relatively well patients and SRDs that benefited a small number of severely ill patients but were not cost effective because of their high cost...
March 2017: PharmacoEconomics Open
https://www.readbyqxmd.com/read/29441496/differences-in-incremental-cost-effectiveness-ratios-for-common-versus-rare-conditions-a-case-from-oncology
#11
Kavisha Jayasundara, Murray Krahn, Muhammad Mamdani, Jeffrey S Hoch, Paul Grootendorst
BACKGROUND: Incremental cost-effectiveness ratios (ICERs) are used to assess the value for money of new drugs. Many believe that ICERs for drugs that treat rare diseases are much higher than those of common drugs. Our objective was to compare the proportion of ICERs that are cost effective for rare and common cancers. METHODS: We used the Tufts Medical Center Cost-Effectiveness Analysis (CEA) Registry to identify cost-effectiveness studies of pharmaceutical interventions for cancers...
September 2017: PharmacoEconomics open
https://www.readbyqxmd.com/read/29440777/views-of-rare-disease-participants-in-a%C3%A2-uk-whole-genome-sequencing-study-towards-secondary-findings-a-qualitative-study
#12
Michael P Mackley, Edward Blair, Michael Parker, Jenny C Taylor, Hugh Watkins, Elizabeth Ormondroyd
With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results-including secondary findings (SF)-are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered-including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease patients and parents enroled in genome sequencing to explore views towards SF...
February 13, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29439715/skene-duct%C3%A2-adenocarcinoma-in-a-patient-with-an-elevated-serum-prostate-specific-antigen-level-a-case-report
#13
Sohgo Tsutsumi, Takashi Kawahara, Yusuke Hattori, Taku Mochizuki, Jun-Ichi Teranishi, Kazuhide Makiyama, Yasuhide Miyoshi, Masako Otani, Hiroji Uemura
BACKGROUND: Female urethral carcinoma is a very rare disease that accounts for 0.02% of malignant diseases in female patients. CASE PRESENTATION: A 70-year-old Asian Japanese woman with a urethral tumor was referred to our hospital to undergo further examination. Biopsy specimens showed urethral adenocarcinoma that was positive for prostate-specific antigen. Her serum prostate-specific antigen level before surgery was 34.4 ng/ml. Urethral tumor resection with pelvic lymph node resection was performed...
February 14, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29439672/renal-manifestations-of-tuberous-sclerosis-complex-patients-and-parents-knowledge-and-routines-for-renal-follow-up-a-questionnaire-study
#14
I Cockerell, M Guenin, K Heimdal, M Bjørnvold, K K Selmer, O Rouvière
BACKGROUND: Renal angiomyolipomas (AMLs) are a major clinical feature in patients with tuberous sclerosis complex (TSC). Spontaneous bleeding can be life threatening, and appropriate information and proper surveillance and management are important to limit morbidity and mortality. Because TSC is a rare disease, patients are at risk of suboptimal medical management. Our aim was to investigate patients' and parents' knowledge about renal angiomyolipomas (AMLs) in Tuberous Sclerosis Complex (TSC) and to identify current routines for renal follow-up...
February 13, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29439489/the-low-renin-hypertension-phenotype-genetics-and-the-role-of-the-mineralocorticoid-receptor
#15
REVIEW
Rene Baudrand, Anand Vaidya
A substantial proportion of patients with hypertension have a low or suppressed renin. This phenotype of low-renin hypertension (LRH) may be the manifestation of inherited genetic syndromes, acquired somatic mutations, or environmental exposures. Activation of the mineralocorticoid receptor is a common final mechanism for the development of LRH. Classically, the individual causes of LRH have been considered to be rare diseases; however, recent advances suggest that there are milder and "non-classical" variants of many LRH-inducing conditions...
February 11, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29436403/chronic-interstitial-lung-disease-in-children
#16
REVIEW
Matthias Griese
Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network...
March 31, 2018: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/29436309/are-perceived-prevalences-of-infection-also-biased-and-how-lessons-from-large-epidemics-of-mosquito-borne-diseases-in-tropical-regions
#17
Jocelyn Raude, Patrick Peretti-Watel, Jeremy Ward, Claude Flamand, Pierre Verger
BACKGROUND: Although people are likely to underestimate the frequencies of risks to health from common diseases and overestimate those from rare diseases, we still do not know much about reasons for this systematic bias, which is also referred to as "primary bias" in the literature. In this study, we take advantage of a series of large epidemics of mosquito-borne diseases to examine the accuracy of judgments of risk frequencies. In this aim, we assessed the perceived v. observed prevalence of infection by Zika, chikungunya or dengue fever during these outbreaks, as well as their variations among different subpopulations and epidemiological settings...
February 1, 2018: Medical Decision Making: An International Journal of the Society for Medical Decision Making
https://www.readbyqxmd.com/read/29435387/systemic-mastocytosis-the-difficult-patient-with-a-rare-disease-case-presentation-and-brief-review
#18
Daniel H Desmond, Mark G Carmichael
Mastocytosis is a rare process involving the activation and accumulation of clonal mast cells categorized by cutaneous or systemic involvement. Although the diagnosis of cutaneous disease can be straightforward and confirmed via skin biopsy, systemic disease mimics more common disease processes making diagnosis a challenge. The widespread physiologic distribution of mast cells causes a variety of symptoms with aberrant expression including fatigue, headache, depression, dyspnea, dyspepsia, nausea, and abdominal pain...
February 2018: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/29435290/palmar-fasciitis-with-polyarthritis-associated-ovarian-cancer-case-report-and-literature-review
#19
Hiroyuki Kajikawa, Takuya Sobajima, Chinatsu Koiwai, Satoshi Ichigo, Hiroshi Takagi, Atsushi Imai
Palmar fasciitis and polyarthritis (PFPA) is an uncommon disorder clinically characterized by rapidly developing bilateral arthritis of the hands and fasciitis of the palms. This cancer-associated syndrome, primarily linked to ovarian cancer, has also been associated with multiple different malignancies. PFPA symptoms usually precede the detection of ovarian cancer. In all patients from case series and single case reports described, ovarian cancer is already present at an advanced stage. Therefore, the authors aimed to present a case and systematically review available evidence on the association between PFPA and ovarian cancer, as gynecological oncologists...
February 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29435068/common-module-analysis-reveals-prospective-targets-and-mechanisms-of-pediatric-adrenocortical-adenoma-and-carcinoma
#20
Anurag Kulshrestha, Shikha Suman
Pediatric adrenocortical carcinoma and adrenocortical adenoma are two rare diseases affecting children. Molecular analyses were performed to identify commonalities in gene expression between the diseases. Differentially expressed genes were identified for the pediatric adrenocortical adenoma and carcinoma tissues, as compared with normal tissues, using the expression dataset. Protein-protein interaction (PPI) networks were constructed for adenoma and carcinoma disease models, and common modules among the diseases were identified...
March 2018: Oncology Letters
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