To see the other types of publications on this topic, follow the link: Office of Rare Diseases.
Journal articles on the topic 'Office of Rare Diseases'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Office of Rare Diseases.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
1
Dickson, D. W., C. Bergeron, S. S. Chin, et al. "Office of Rare Diseases Neuropathologic Criteria for Corticobasal Degeneration." Journal of Neuropathology & Experimental Neurology 61, no. 11 (2002): 935–46. http://dx.doi.org/10.1093/jnen/61.11.935.
Full text
2
GROFT, STEPHEN C. "Fostering Research Partnerships: A Perspective From the Office of Rare Diseases (ORD)." Retina 25, Supplement (2005): S86. http://dx.doi.org/10.1097/00006982-200512001-00042.
Full text
3
Kleta, Robert, Frederick Kaskel, Ranjan Dohil, et al. "First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future." Pediatric Nephrology 20, no. 4 (2005): 452–54. http://dx.doi.org/10.1007/s00467-004-1777-5.
Full text
4
Jo, Ara, Samantha Larson, Peter Carek, Michael R. Peabody, Lars E. Peterson, and Arch G. Mainous. "Prevalence and practice for rare diseases in primary care: a national cross-sectional study in the USA." BMJ Open 9, no. 4 (2019): e027248. http://dx.doi.org/10.1136/bmjopen-2018-027248.
Full textAbstract:
ObjectivesThere are more than 7000 rare diseases in the USA, and they are prevalent in 8% of the population. Due to life-threatening risk and limited therapies, early detection and treatment are critical. The purpose of this study was to explore characteristics of visits for patients with rare diseases seen by primary care physicians (PCPs).DesignThe study used a cross sectional study using a national representative dataset, the National Ambulatory Medical Care Survey for the years 2012–2014.SettingPrimary care setting.ParticipantsVisits to PCPs (n=22 306 representing 354 507 772 office visits to PCPs).Primary outcome measuresPrevalence of rare diseases in visits of PCPs was the primary outcome. Bivariate analyses and logistic regression analyses were used to compare patients with rare diseases and those without rare diseases and examined characteristics of PCP visits for rare diseases and practice pattern.ResultsAmong outpatient visits to PCPs, rare diseases account for 1.6% of the visits. The majority of patients with rare diseases were established patients (93.0%) and almost half (49.0%) were enrolled in public insurance programmes. The time spent in visits for rare diseases (22.4 min) and visits for more common diseases (21.3 min) was not significantly different (p=0.09). In an adjusted model controlling for patient characteristics (age, sex, types of insurance, reason for this visit, total number of chronic disease, having a rare disease and established or new patient), patients with rare diseases were 52% more likely to be referred to another provider (OR 1.52, 95% CI, 1.01 to 2.28).ConclusionsVisits for rare diseases are uncommon in primary care practice. Future research may help to explain whether this low level of management of rare diseases in primary care practice is consistent with a goal of a broad scope of care.
5
Leśniowska, Joanna. "Economic Burden of Rare Diseases With Common Diseases as a Comorbidity in Poland." Problemy Zarządzania - Management Issues 2/2020, no. 88 (2020): 103–20. http://dx.doi.org/10.7172/1644-9584.89.6.
Full textAbstract:
Purpose: Some of the common diseases are the comorbidities of rare diseases and they impose a considerable economic burden on the national health care system and economy. We examined the economic burden of a rare disease (tuberous sclerosis complex – TSC) in Poland and its comorbidities (common diseases – epilepsy and status epilepticus) while taking into account a sensitivity analysis. Design/Methodology/Approach: This study is a prevalence-based top-down cost of illness study that analyzes the direct and indirect cost of TSC and its complications. The research was based on the data obtained from the National Health Fund (hereinafter referred to as “NFZ”, which is the abbreviation of the source language name of the institution), Social Insurance Institution (hereinafter referred to as “ZUS”, which is the abbreviation of the source language name of the institution), and Poland’s Central Statistical Office (hereinafter referred to as “GUS”, which is the abbreviation of the source language name of the institution) by using the human capital method. Findings: The total cost of TSC and its complications in Poland, when taking the sensitivity analysis into account, amounts to EUR 2.2 million – EUR 3.4 million, which has a prevalence of indirect costs (61%–83% of the total costs). The conducted analysis indicates that the higher costs of common diseases result from insufficient financing for research of rare diseases which in many cases have common diseases as a comorbidity. Research limitations/implications: The limitations of the research analysis result from the lack of registration of patients suffering from rare diseases in Poland and from the requirements for the billing codes in the documentation of NFZ and Polish health care providers. Therefore, the study includes a sensitivity analysis. Originality/value: This is the first attempt to evaluate the total economic burden of TSC in Poland. The study indicates that the indirect costs of diseases are often overlooked in health care planning in Poland.
6
Ashari, Noor Suryani Mohd, and Wan Zuraida Wan Abdul Hamid. "A Rare Case of Ataxia Telangiectasia in Malaysia." Bangladesh Journal of Medical Science 16, no. 1 (2017): 154–56. http://dx.doi.org/10.3329/bjms.v16i1.31151.
Full textAbstract:
Ataxia telangiectasia is a primary immunodeficiency disease that affects multiple organs systems. Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia. Ataxia telangiectasia is listed as a rare disease by the Office of Rare Diseases [ORD] of the National Institutes of Health [NIH]. Because ataxia telangiectasia is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. Not all children develop in the same manner or at the same rate; it may be some years before ataxia telangiectasia is properly diagnosed. We report a rare case of ataxia telangiectasia in Malaysia who was diagnosed only at the age of 10 years.Bangladesh Journal of Medical Science Vol.16(1) 2017 p.154-156
7
Patel, Soumya, and Katherine I. Miller Needleman. "FDA’s Office of Orphan Products Development: providing incentives to promote the development of products for rare diseases." Journal of Pharmacokinetics and Pharmacodynamics 46, no. 5 (2019): 387–93. http://dx.doi.org/10.1007/s10928-019-09645-4.
Full text
8
Agrawal, Lata, HK Premi, Disha Shakya, and Tripti Gupta. "Gestational Gigantomastia: A Rarity." International Journal of Advanced and Integrated Medical Sciences 1, no. 1 (2016): 13–14. http://dx.doi.org/10.5005/jp-journals-10050-0005.
Full textAbstract:
ABSTRACT Hypertrophy of the breast is a rare medical condition of breast connective tissue. It is listed as a ‘rare disease’ by the ‘Office of Rare Diseases’ of National Institute of Health (NIH). A woman aged 20 years presented to our antenatal clinic in her first pregnancy at 23 weeks of gestation with excessive enlargement of breasts since conception. Although its etiology has yet to be clarified, it has been associated with the response of breast receptors to gestational hormones. Gestational gigantomastia is a complication whose etiology and pathogenesis have yet to be fully clarified. However it has been speculated that placental hormones may trigger the condition. How to cite this article Shakya D, Gupta T, Agrawal L, Premi HK. Gestational Gigantomastia: A Rarity. Int J Adv Integ Med Sci 2016;1(1):13-14.
9
Wise, J. "People with rare diseases need better care, says chief medical officer." BMJ 340, mar16 3 (2010): c1506. http://dx.doi.org/10.1136/bmj.c1506.
Full text
10
Lambert, Deborah, Rita Marron, Jackie Turner, et al. "The Irish National Rare Disease Office (NRDO): A national step towards improving access to health and care services for individuals and families living with Rare Diseases." International Journal of Integrated Care 17, no. 5 (2017): 239. http://dx.doi.org/10.5334/ijic.3550.
Full text
11
PEARSON, GAIL D., JEAN-CLAUDE VEILLE, SHAHBUDIN RAHIMTOOLA, et al. "Peripartum Cardiomyopathy: National Heart, Lung, and Blood Institute and Office of Rare Diseases (National Institutes of Health) Workshop Recommendations and Review." Survey of Anesthesiology 44, no. 6 (2000): 337. http://dx.doi.org/10.1097/00132586-200012000-00016.
Full text
12
Gunay-Aygun, Meral, Ellis D. Avner, Robert L. Bacallao, et al. "Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference." Journal of Pediatrics 149, no. 2 (2006): 159–64. http://dx.doi.org/10.1016/j.jpeds.2006.03.014.
Full text
13
Bernier, Alexander. "Rare disease data stewardship in Canada." FACETS 5, no. 1 (2020): 836–63. http://dx.doi.org/10.1139/facets-2020-0050.
Full textAbstract:
The Canadian Genomics Partnership for Rare Diseases, spearheaded by Genome Canada, will integrate genome-wide sequencing to rare disease clinical care in Canada. Centralized and tiered models of data stewardship are proposed to ensure that the data generated can be shared for secondary clinical, research, and quality assurance purposes in compliance with ethics and law. The principal ethico-legal obligations of clinicians, researchers, and institutions are synthesized. Governance infrastructures such as registered access platforms, data access compliance offices, and Beacon systems are proposed as potential organizational and technical foundations of responsible rare disease data sharing. The appropriate delegation of responsibilities, the transparent communication of rights and duties, and the integration of data privacy safeguards into infrastructure design are proposed as the cornerstones of rare disease data stewardship.
14
Wright, Daniel G., Daniel L. Kastner, Geraldine B. Pollen, et al. "Challenges and opportunities for systemic amyloidosis research. Summary of an Advisory Workshop Sponsored by the NIH Office of Rare Diseases, Bethesda, Maryland, June 20, 2006." Amyloid 14, no. 2 (2007): 103–12. http://dx.doi.org/10.1080/13506120701259689.
Full text
15
Korde, Larissa A., Jo Anne Zujewski, Leah Kamin, et al. "Multidisciplinary Meeting on Male Breast Cancer: Summary and Research Recommendations." Journal of Clinical Oncology 28, no. 12 (2010): 2114–22. http://dx.doi.org/10.1200/jco.2009.25.5729.
Full textAbstract:
Male breast cancer is a rare disease, accounting for less than 1% of all breast cancer diagnoses worldwide. Most data on male breast cancer comes from small single-institution studies, and because of the paucity of data, the optimal treatment for male breast cancer is not known. This article summarizes a multidisciplinary international meeting on male breast cancer, sponsored by the National Institutes of Health Office of Rare Diseases and the National Cancer Institute Divisions of Cancer Epidemiology and Genetics and Cancer Treatment and Diagnosis. The meeting included representatives from the fields of epidemiology, genetics, pathology and molecular biology, health services research, and clinical oncology and the advocacy community, with a comprehensive review of the data. Presentations focused on highlighting differences and similarities between breast cancer in males and females. To enhance our understanding of male breast cancer, international consortia are necessary. Therefore, the Breast International Group and North American Breast Cancer Group have joined efforts to develop an International Male Breast Cancer Program and to pool epidemiologic data, clinical information, and tumor specimens. This international collaboration will also facilitate the future planning of clinical trials that can address essential questions in the treatment of male breast cancer.
16
Korngut, Lawrence, Craig Campbell, Megan Johnston, et al. "The CNDR: Collaborating to Translate New Therapies for Canadians." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 40, no. 5 (2013): 698–704. http://dx.doi.org/10.1017/s0317167100014943.
Full textAbstract:
Abstract:Background:Patient registries represent an important method of organizing “real world” patient information for clinical and research purposes. Registries can facilitate clinical trial planning and recruitment and are particularly useful in this regard for uncommon and rare diseases. Neuromuscular diseases (NMDs) are individually rare but in aggregate have a significant prevalence. In Canada, information on NMDs is lacking. Barriers to performing Canadian multicentre NMD research exist which can be overcome by a comprehensive and collaborative NMD registry.Methods:We describe the objectives, design, feasibility and initial recruitment results for the Canadian Neuromuscular Disease Registry (CNDR).Results:The CNDR is a clinic-based registry which launched nationally in June 2011, incorporates paediatric and adult neuromuscular clinics in British Columbia, Alberta, Ontario, Quebec, New Brunswick and Nova Scotia and, as of December 2012, has recruited 1161 patients from 12 provinces and territories. Complete medical datasets have been captured on 460 “index disease” patients. Another 618 “non-index” patients have been recruited with capture of physician-confirmed diagnosis and contact information. We have demonstrated the feasibility of blended clinic and central office-based recruitment. “Index disease” patients recruited at the time of writing include 253 with Duchenne and Becker muscular dystrophy, 161 with myotonic dystrophy, and 71 with ALS.Conclusions:The CNDR is a new nationwide registry of patients with NMDs that represents an important advance in Canadian neuromuscular disease research capacity. It provides an innovative platform for organizing patient information to facilitate clinical research and to expedite translation of recent laboratory findings into human studies.
17
Claus, Elizabeth B., May Abdel-Wahab, Peter C. Burger, et al. "Defining future directions in spinal cord tumor research." Journal of Neurosurgery: Spine 12, no. 2 (2010): 117–21. http://dx.doi.org/10.3171/2009.7.spine09137.
Full textAbstract:
The relative rarity of spinal cord tumors has hampered the study of these uncommon nervous system malignancies. Consequently, the understanding of the fundamental biology and optimal treatment of spinal cord tumors is limited, and these cancers continue to inflict considerable morbidity and mortality in children and adults. As a first step to improving the outcome of patients affected with spinal cord tumors, the National Institutes of Health Office of Rare Diseases Research in cooperation with the National Cancer Institute and the National Institute of Neurological Disorders and Stroke convened a workshop to discuss the current status of research and clinical management of these tumors. The overall goal of this meeting was to initiate a process that would eventually translate fundamental basic science research into improved clinical care for this group of patients. Investigational priorities for each of these areas were established, and the opportunities for future multidisciplinary research collaborations were identified.
18
López Villafranca, Paloma. "Análisis de estafas de pacientes en la prensa española. El caso de Paco Sanz, el hombre de los 2.000 tumores y el caso de Nadia, la niña con tricodistrofia = Analysis of false patient cases in the Spanish press. Paco Sanz’s case, the man affected by 2,000 tumors and Nadia’s case, the girl with trichodystrophy." REVISTA ESPAÑOLA DE COMUNICACIÓN EN SALUD 9, no. 1 (2018): 5. http://dx.doi.org/10.20318/recs.2018.4256.
Full textAbstract:
Resumen: Organizados en asociaciones y con el apoyo de la ciudadanía, los pacientes con enfermedades raras han conseguido ser visibles y lograr mayor inversión en investigación gracias a las donaciones económicas. Sin embargo, ha sido muy perjudicial para estos pacientes la existencia de casos como los de Nadia, la niña con tricodistrofia que sus padres utilizaron para vivir de la enfermedad y el caso del hombre de los 2.000 tumores, un paciente que exageró un síndrome para recaudar 100.000 euros para un tratamiento que no existía. El objetivo principal de la investigación es analizar la difusión de ambas estafas en prensa. Realizamos análisis de contenido en prensa en los tres diarios de mayor difusión según el OJD en el momento de la investigación: El País, El Mundo y La Vanguardia. Mediante este estudio comprobamos cómo la utilización de titulares, palabras e imágenes negativas se relacionan con estas enfermedades y no se da importancia a las fuentes sanitarias y a los pacientes afectados.Palabras clave: enfermedades raras; pacientes; imagen; estafa; prensa.Abstract: Organized by associations and with the support of citizens, patients with rare diseases have managed the increase of scientific research about their diseases provided by private donations. However, it has been very harmful for these patients the latest news about Nadia, the girl with trichodystrophy used by her parents to live from this disease and press news about the man with 2,000 tumors, a patient who exaggerated a syndrome to collect 100,000 euros for a treatment that did not exist. The main objective of the investigation is to analyze the diffusion of both news in Spanish press. We carried out content analysis in press in three newspapers according to OJD, (Spanish Office of Justification of Dissemination): El País, El Mundo and La Vanguardia. We verified the use of headlines, negative words and negative images are linked to these diseases and it is not taken into account sanitary sources and patients sources.Keywords: rare diseases; patients; image; fraud; press.
19
Wrathall, A. E., and H. A. Simmons. "Biosecurity strategies for conservation of farm animal genetic resources." BSAP Occasional Publication 30 (2004): 243–61. http://dx.doi.org/10.1017/s0263967x00042051.
Full textAbstract:
AbstractThe foot-and-mouth disease (FMD) epidemic in the U.K. in 2001 highlighted the threat of infectious diseases to rare and valuable livestock and stimulated a renewed interest in biosecurity. Not all diseases resemble FMD, however; transmission routes and pathological effects vary greatly, so biosecurity strategies must take this into account. Realism is also needed as to which diseases to exclude and which will have to be tolerated. The aim should be to minimise disease generally and to exclude those diseases that threaten existence of the livestock, or preclude their national or international movement. Achieving this requires a team effort, bearing in mind the livestock species involved, the farming system (‘open’ or ‘closed’) and the premises. Effective biosecurity demands that practically every aspect of farm life is controlled, including movements of people, vehicles, equipment, food, manure, animal carcasses and wildlife. Above all, biosecurity strategies must cover the disease risks associated with moving the livestock themselves, and this will require quarantine if adult or juvenile animals are imported into the herd or flock. Reproductive technologies such as artificial insemination and embryo transfer offer much safer ways for getting new genetic materials into herds/flocks for breeding than bringing in live animals. Embryo transfer is especially safe when the sanitary protocols promoted by the International Embryo Transfer Society (IETS) and advocated by the Office International des Epizooties (OIE: the ‘World Organisation for Animal Health’) are used. It can also allow the full genetic complement to be salvaged from infected animals. Cryobanking of genetic materials, especially embryos, is another valuable biosecurity strategy because it enables storage for contingencies such as epidemic disease or other catastrophes.
20
Welch, Laura. "Evaluating Impairment from Allergic Disorders." Guides Newsletter 4, no. 2 (1999): 1–3. http://dx.doi.org/10.1001/amaguidesnewsletters.1999.marapr01.
Full textAbstract:
Abstract More than 15 million Americans have allergic rhinitis alone, and approximately 12 million have other allergic manifestations such as urticaria, angioedema, eczema, or sensitivity to food, drugs, or insect bites. Almost 10% of patients who seek care at a physician's office do so for one of the common allergic diseases, but rating impairment for allergic disorders is uncommon because typically they do not produce “permanent” impairment and are not work- or liability-related. Section 9.3a, Respiration in Chapter 9, Ear, Nose, Throat, and Related Structures, of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) addresses the process of assessing impairment due to allergic rhinitis, the first type of allergy. Because allergic rhinitis is seasonal, the examiner must determine if permanent impairment is present and if the patient is at maximum medical improvement. The second major manifestation of allergy is allergic skin disease, including urticaria-angioedema and is discussed in Chapter 13, The Skin, where a table classifies skin disorder impairments. The third primary manifestation of allergic disease is eczema, also called atopic dermatitis, which also is discussed in Chapter 13. Allergic diseases are common but generally are quite treatable. Evaluators should ensure that the patient has had an appropriate trial of therapeutic agents before assigning a permanent partial impairment; because of treatment options, the latter should be rare.
21
Wrathall, Anthony E., Hugh A. Simmons, Dianna J. Bowles, and Sam Jones. "Biosecurity strategies for conserving valuable livestock genetic resources." Reproduction, Fertility and Development 16, no. 2 (2004): 103. http://dx.doi.org/10.1071/rd03083.
Full textAbstract:
The foot and mouth disease (FMD) epidemic in the UK in 2001 highlighted the threat of infectious diseases to rare and valuable livestock and stimulated a renewed interest in biosecurity and conservation. However, not all diseases resemble FMD: their transmission routes and pathological effects vary greatly, so biosecurity strategies must take this into account. Realism is also needed as to which diseases to exclude and which will have to be tolerated. The aim should be to minimise disease generally and to exclude those diseases that threaten the existence of livestock or preclude their national or international movement. Achieving this requires a team effort, bearing in mind the livestock species involved, the farming system (‘open’ or ‘closed’) and the premises. Effective biosecurity demands that practically every aspect of farm life is controlled, including movements of people, vehicles, equipment, food, manure, animal carcasses and wildlife. Above all, biosecurity strategies must cover the disease risks associated with moving the livestock themselves and this will require quarantine if adult or juvenile animals are imported into the herd or flock. The present paper emphasises the important role that reproductive technologies, such as artificial insemination and embryo transfer, can have in biosecurity strategies because they offer much safer ways for getting new genetic materials into herds/flocks than bringing in live animals. Embryo transfer is especially safe when the sanitary protocols promoted by the International Embryo Transfer Society and advocated by the Office International des Epizooties (the ‘World Organisation for Animal Health’) are used. Embryo transfer can also allow the full genetic complement to be salvaged from infected animals. Cryobanking of genetic materials, especially embryos, is another valuable biosecurity strategy because it enables their storage for conservation in the face of contingencies, such as epidemic disease and other catastrophes.
22
Mayer, Oscar Henry, John Karafilidis, Kate Higgins, and Brian Griffin. "Descriptive Characteristics of Males with Duchenne Muscular Dystrophy in Those Covered by Government (Medicaid) and Non-government (Private) Health Plans." US Neurology 14, no. 2 (2018): 88. http://dx.doi.org/10.17925/usn.2018.14.2.88.
Full textAbstract:
Duchenne muscular dystrophy (DMD) is a rare, inherited neuromuscular disorder.Methods:To describe the clinical characteristics and healthcare resource utilization (HCRU) of male patients with DMD in commercial and Medicaid cohorts, this retrospective study identified male patients in the Truven Health MarketScan® Commercial and Medicaid databases diagnosed with hereditary progressive muscular dystrophy (HPMD) presumed to have DMD between 2011–2014. Patients with ≥2 medical claims with a diagnosis for HPMD (International Classification of Diseases, 9th revision, ClinicalModification:359.1) were included. Patients were followed for 12 months after diagnosis date, during which clinical characteristics and HCRU were assessed.Results:In total, 2,285 patients met the selection criteria. In these patients, corticosteroid and anti-infective agents were commonly utilized. Physician office visits were extremely common, with over 70% of all patients having at least one visit. Wheelchairs were commonly used, with the incidence of use increasing with age. Mechanical ventilators and airway clearance devices were underrepresented in the data.Conclusion:Patients with DMD had higher annual HCRU costs when compared with a non-DMD age-matched cohort, with patients in commercial cohorts having a higher annual average cost than those in Medicaid cohorts.
23
Bruxvoort, Katia J., Zoe Bider-Canfield, Joan A. Casey, et al. "Outpatient Urinary Tract Infections in an Era of Virtual Healthcare: Trends From 2008 to 2017." Clinical Infectious Diseases 71, no. 1 (2019): 100–108. http://dx.doi.org/10.1093/cid/ciz764.
Full textAbstract:
Abstract Background Urinary tract infections (UTIs) occur commonly, but recent data on UTI rates are scarce. It is unknown how the growth of virtual healthcare delivery affects outpatient UTI management and trends in the United States. Methods From 1 January 2008 to 31 December 2017, UTIs from outpatient settings (office, emergency, and virtual visits) were identified from electronic health records at Kaiser Permanente Southern California using multiple UTI definitions. Annual rates estimated by Poisson regression were stratified by sex, care setting, age, and race/ethnicity. Annual trends were estimated by linear or piecewise Poisson regression. Results UTIs occurred in 1 065 955 individuals. Rates per 1000 person-years were 53.7 (95% confidence interval [CI], 50.6–57.0) by diagnosis code with antibiotic and 25.8 (95% CI, 24.7–26.9) by positive culture. Compared to office and emergency visits, UTIs were increasingly diagnosed in virtual visits, where rates by diagnosis code with antibiotic increased annually by 21.2% (95% CI, 16.5%–26.2%) in females and 29.3% (95% CI, 23.7%–35.3%) in males. Only 32% of virtual care diagnoses had a culture order. Overall, UTI rates were highest and increased the most in older adults. Rates were also higher in Hispanic and white females and black and white males. Conclusions Outpatient UTI rates increased from 2008 to 2017, especially in virtual care and among older adults. Virtual care is important for expanding access to health services, but strategies are needed in all outpatient care settings to ensure accurate UTI diagnosis and reduce inappropriate antibiotic treatment.
24
Vohra, Rini, Suresh Madhavan, and Usha Sambamoorthi. "Comorbidity prevalence, healthcare utilization, and expenditures of Medicaid enrolled adults with autism spectrum disorders." Autism 21, no. 8 (2016): 995–1009. http://dx.doi.org/10.1177/1362361316665222.
Full textAbstract:
A retrospective data analysis using 2000–2008 three state Medicaid Analytic eXtract was conducted to examine the prevalence and association of comorbidities (psychiatric and non-psychiatric) with healthcare utilization and expenditures of fee-for-service enrolled adults (22–64 years) with and without autism spectrum disorders (International Classification of Diseases, Ninth Revision–clinical modification code: 299.xx). Autism spectrum disorder cases were 1:3 matched to no autism spectrum disorder controls by age, gender, and race using propensity scores. Study outcomes were all-cause healthcare utilization (outpatient office visits, inpatient hospitalizations, emergency room, and prescription drug use) and associated healthcare expenditures. Bivariate analyses (chi-square tests and t-tests), multinomial logistic regressions (healthcare utilization), and generalized linear models with gamma distribution (expenditures) were used. Adults with autism spectrum disorders (n = 1772) had significantly higher rates of psychiatric comorbidity (81%), epilepsy (22%), infections (22%), skin disorders (21%), and hearing impairments (18%). Adults with autism spectrum disorders had higher mean annual outpatient office visits (32ASD vs 8noASD) and prescription drug use claims (51ASD vs 24noASD) as well as higher mean annual outpatient office visits (US$4375ASD vs US$824noASD), emergency room (US$15,929ASD vs US$2598noASD), prescription drug use (US$6067ASD vs US$3144noASD), and total expenditures (US$13,700ASD vs US$8560noASD). The presence of a psychiatric and a non-psychiatric comorbidity among adults with autism spectrum disorders increased the annual total expenditures by US$4952 and US$5084, respectively.
25
Yu, Jingbo, Dilan Paranagama, and Shreekant Parasuraman. "Recruitment strategies and geographic representativeness for patient survey studies in rare diseases: Experience from the living with myeloproliferative neoplasms patient survey." PLOS ONE 15, no. 12 (2020): e0243562. http://dx.doi.org/10.1371/journal.pone.0243562.
Full textAbstract:
Background Recruitment of individuals with rare diseases for studies of real-world patient-reported outcomes is limited by small base populations. Myeloproliferative neoplasms (MPNs) are a group of rare, chronic, hematologic malignancies. In this study, recruitment strategies and geographic representativeness from the Living with MPNs survey are reported. Methods The Living with MPNs online cross-sectional survey was conducted between April and November 2016. Individuals 18 to 70 years of age living in the United States and diagnosed with an MPN were eligible to participate. Recruitment approaches included direct contact via emails and postcards; posts on MPN-focused social media and patient advocacy websites; postcard mailings to doctors’ offices; and advertisements on medical websites, Google, and Facebook. Geographic representativeness was assessed based on the number of survey respondents living in each state or the District of Columbia and by the number of survey respondents per 10 million residents. Results A total of 904 respondents with MPNs completed the survey. The recruitment method yielding the greatest number of respondents was advertisements on MPN-focused social media (47.6% of respondents), followed by emails (35.1%) and postcards (13.9%) sent through MPN advocacy groups. Home state information was provided by 775 respondents from 46 states (range of respondents per state, 1–89). The number of respondents per 10 million residents in the 46 states with respondents ranged from 12.1 to 52.7. Conclusions Recruitment using social media and communications through patient groups and advocacy organizations are effective in obtaining geographically representative samples of individuals with MPNs in the United States. These approaches may also be effective in other rare diseases.
26
Schirmer, Patricia, Cynthia Lucero-Obusan, Gina Oda, Gavin West, and Mark Holodniy. "Lessons Learned From a Decade of Dental Lookback Investigations in the Department of Veterans’ Affairs (VA): 2009–2019." Infection Control & Hospital Epidemiology 41, S1 (2020): s310—s311. http://dx.doi.org/10.1017/ice.2020.900.
Full textAbstract:
Background: The Department of Veterans’ Affairs (VA) operates 146 hospitals providing healthcare to >6 million veterans annually, including dental care to qualified veterans. Although bloodborne pathogen transmission after dental procedures is rare, little is known of risk when there are breaches. A standardized approach to performing lookback investigations after dental infection control breaches could better quantify these risks. We reviewed dental lookback investigations from the past decade conducted by our VA office for lessons learned to improve processes. Methods: Three VA hospitals had dental infection control breaches during 1992–2016. Facility A had dental instruments that were not cleaned according to the manufacturer’s recommendations, and dentists at facilities B and C failed to adhere to proper infection control standards. Exposed veterans who underwent dental procedures were notified of possible exposure and were offered testing for human immunodeficiency (HIV-1), hepatitis B virus (HBV), and hepatitis C virus (HCV). Prior clinical testing was also reviewed. Newly identified positive results were compared to known positives prior to exposure to determine strain relatedness when sufficient plasma viral load was present for viral sequence comparison. Results: There were 2,939 patients with potential exposures in these dental investigations: 2,667 were tested for HBV, 2,642 were tested for HCV and 2,599 were tested for HIV-1. No evidence of viral transmission was found based on genetic sequence comparison of positive cases, but relatively few samples were available for this testing. Lessons Learned: Each facility faced different challenges with their investigation; however, several key processes were identified. (1) Early engagement by our office with local facility leadership and lookback teams resulted in more efficient investigation and testing processes. (2) To improve standardization, a lookback manual detailing of investigation procedures was created in 2009 and was updated subsequently. The contents of this manual include identifying and notifying patients; providing services to veterans responding to notifications; laboratory testing algorithms; disclosure and documentation of test results and clinical follow-up; and epidemiologic investigation of patients with newly identified infection. (3) Prompt patient notification and obtaining adequate samples for initial and follow-up pathogen genetic testing is critical. Determination of genetic linkages was greatly limited because specimens were unavailable for supplemental testing. (4) Ethics and legal counsel staff are key partners in providing guidance on appropriate disclosure procedures and documentation. (5) Designating a single mechanism for reporting results ensures consistent communication among stakeholders. (6) Education of dental staff on importance of following the manufacturers’ cleaning recommendations, not using outside equipment and reporting instances of concern promptly can help prevent future infection control breaches.Funding: NoneDisclosures: None
27
Kornas, Robert C., Sarah-Kim Shields, and Lyle S. Goldman. "A Peculiar Case of the Abscopal Effect: Radioactive Iodine Therapy Incidentally Palliating Marginal Zone Lymphoma." Case Reports in Oncological Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/281729.
Full textAbstract:
The abscopal effect is an extremely rare phenomenon occurring when irradiation or treatment of a primary tumor burden not only results in debulking of the targeted site but also reduces tumor size at distant sites from the intended treatment area. We present the abscopal effect occurring in a patient with low-grade marginal zone lymphoma who subsequently received radioactive iodine therapy for papillary thyroid carcinoma. She was 67 years old when a routine complete blood count at her primary care physician’s office yielded a persistent leukocytosis of 14,500/μL with lymphocytosis of 9,870/μL. Immunophenotyping and fluorescence in situ hybridization (FISH) analysis confirmed low-grade marginal zone lymphoma. Over eight years, her peak leukocyte and lymphocyte counts were 24,100/μL and 18,100/μL, respectively. Subsequently, she was diagnosed with papillary thyroid carcinoma after presenting with a new complaint of dysphagia. A total thyroidectomy was performed, followed by 172.1 millicuries of oral I-131 sodium iodine radioactive ablation therapy. Following treatment, her leukocyte and lymphocyte counts were 3,100/μL and 1,100/μL, respectively. Over the next four years, her leukocyte and lymphocyte counts remained within normal limits and she remained symptom free. To our knowledge, there has never been a published report describing the use of radioactive iodine causing abscopal effect benefits for patients with underlying lymphoproliferative diseases.
28
Parul Uppal Malhotra, Neera Ohri, Yagyeshwar Malhotra, and Anindita Mallik. "Denture Stomatitis: Report of a Case with Rarely Used Treatment Modality and Review of Literature." International Healthcare Research Journal 4, no. 5 (2020): 116–19. http://dx.doi.org/10.26440/ihrj/0405.08029.
Full textAbstract:
Candida albicans is the most common Candida species isolated from the oral cavity both in healthy and diseased. Candida albicans is a dimorphic fungus existing both in blastopore phase (yeast phase) and the hyphal or mycelial phase. Although these organisms typically colonize mucocutaneous surfaces, the latter can be portals of entry into deeper tissues when host defences are compromised. Denture stomatitis is a common form of oral candidiasis that manifests as a diffuse inflammation of the maxillary denture bearing areas & is associated with angular cheilitis. At least 70% of individuals with clinical signs of denture stomatitis exhibit fungal growth & these conditions most likely result from yeast colonization of the oral mucosa combined with Bacterial colonization. Candida species act as an endogenous infecting agent on tissue predisposed by chronic trauma to microbial invasion. At one time, oral fungal infections were rare findings in general dentist's office. They were more commonly seen in hospitalized and severely debilitated patients. However with enhanced medical and pharmaceutical technology, increasing numbers of ambulatory immunosuppressed individuals with oral fungal infections are seeking out general dentists for diagnosis and treatment of these lesions.
29
Frese, Thomas, Linda Peyton, Jarmila Mahlmeister, and Hagen Sandholzer. "Knee Pain as the Reason for Encounter in General Practice." ISRN Family Medicine 2013 (December 26, 2013): 1–6. http://dx.doi.org/10.5402/2013/930825.
Full textAbstract:
Objective. Currently, an overview of the management of knee pain in general practitioner’s offices is not available. The main concern of this study was to evaluate the consultation prevalence of knee pain, accompanying symptoms, the frequency of diagnostic and therapeutic procedures, and results of encounters of patients suffering from knee pain. Methods. For the SESAM 2 study cross-sectional data was collected from randomly selected patients during one year and compared with publicly available data from the Dutch Transition Project. Results. Overall, 127 out of 8,877 (1.4%) patients of the SESAM 2 study and 6,754 out of 149,238 (4.5%) patients of the Dutch Transition Project consulted for knee pain. Drug prescription, follow-up consultation, giving doctor’s advice, and referral to a specialist or physiotherapist were the most frequent procedures. Osteoarthritis of the knee and other musculoskeletal diseases were the most frequent results of encounter. Overweight, age, gender, and other musculoskeletal diseases were found to be significantly associated with knee pain. Conclusion. Knee pain in general practice settings is mainly associated with chronic problems. Dangerous outcomes (as suspected fracture or thrombosis) are rare. Further research is needed in order to reduce the influence knee pain has on daily living.
30
Stone, Jonathan J., Kimberly K. Amrami, Jodi M. Carter, and Robert J. Spinner. "Stimulation Contractility Gradient of a Neuromuscular Choristoma Within the Sciatic Nerve: 2-Dimensional Operative Video." Operative Neurosurgery 16, no. 1 (2018): E17. http://dx.doi.org/10.1093/ons/opy131.
Full textAbstract:
Abstract Neuromuscular choristoma (NMC) is a rare congenital nerve lesion that is classified by the presence of heterotopic muscle fibers intercalated within nerve fascicles.1 The presence of NMC typically causes progressive neuropathy and bony/soft tissue undergrowth, often leading to a shortened atrophic limb.2,3 The typical appearance of NMC on magnetic resonance imaging is an enlarged fusiform nerve that exhibits minimal gadolinium enhancement.4 While there is increasing documentation of pathognomonic clinical and radiographic features for various diffuse fusiform peripheral nerve lesions, nerve biopsy is still occasionally required for some patients given the rarity of these diseases and progressive neuropathic features. The intraoperative appearance of NMC and its unique electrical stimulation properties are quite interesting. Intrafascicular replacement of nerve by skeletal muscle gives the nerve a red beefy color and causes the fascicles to contract with electrical stimulation.5 In this video, we demonstrate the intraoperative appearance and contractile properties of NMC in a 60-yr-old woman with progressive sciatic neuropathy. Histologic and immunohistochemical studies identified a gradient of intralesional mature skeletal muscle within the NMC, with substantially fewer desmin-positive skeletal muscle fibers in the distal aspect. A gradient of contractility with intraoperative stimulation seemed to correlate with this pathology. These findings suggest that the lesional extent of NMC may not be clinically or grossly evident, reflecting a varying distribution of skeletal muscle within the affected nerve. The Mayo Clinic Institutional Review Board Office for Human Research Protection does not require approval for single participant case studies. The subject involved in this study was not identifiable and the general surgical consent form included permission for intraoperative photos and video.
31
Gilstrop Thompson, Marisa, Stephanie Corsetti, Vanita Jain, Kelly Ruhstaller, and Anthony Sciscione. "Accuracy of Routine Prenatal Genetic Screening in Patients Referred for Genetic Counseling." American Journal of Perinatology 37, no. 03 (2019): 271–76. http://dx.doi.org/10.1055/s-0039-1678533.
Full textAbstract:
Objective The American College of Obstetricians and Gynecologists (ACOG) guidelines recommend routine prenatal screening for genetic diseases that could affect the pregnancy. We sought to determine the rate of missed genetic information in the general obstetrician's routine prenatal genetic screening process. Study Design This is a sequential case series of women referred for genetic counseling between March and August of 2015. Once identified, all women completed a personalized genetic history/exposure intake form (GHEF) created by our certified genetic counselors, followed by an in-person genetic counseling session with pedigree generation. The corresponding prenatal record was reviewed for genetic history obtained by the referring provider, most often utilizing the standardized ACOG prenatal intake form's genetic and family history sections. This information was then compared with that discovered in the GHEF and through the in-person genetic counseling session. Missed genetic information was defined as information discovered on the GHEF or during the in-person genetic counseling session which was not noted on the prenatal genetic screening document from the obstetric provider. Missing genetic information that lead to a change in clinical care, either through additional laboratory screening tests, fetal imaging or prenatal diagnostic testing through chorionic villus sampling, or amniocentesis was considered significant. We also assessed the study population as to maternal race, parity, and referral source. Statistical significance was assessed using Chi-squared testing with p < 0.05 identifying significance. Results A total of 299 patients underwent genetic counseling. Of them, 57.5% patients were referred from private providers, 28.1% from academic faculty practice, and 14.4% from a federally funded clinic. Missed genetic information was discovered in 171/299 (57.2%) of patients in the genetic counseling process. Of these 171 patients, 28.7% were identified via the GHEF and 52.6% during the in-person genetic counseling session. Of the 171 patients who had new genetic information discovered, 73 (42.7%) findings were significant. There was no statistical difference in patient race or referring office setting in the occurrence of new information found. Conclusion In our population, genetic history obtained in the general obstetrician's office, regardless of practice type, missed genetic information in over half of cases with approximately 40% of that information leading to a subsequent change in clinical care. Developing a genetic intake form similar to our pregenetic counseling form, or modification/clarification of the “Family History and Genetic Screening” section within the standardized ACOG prenatal genetic history form, used at most practices in our region may decrease missed genetic information in the general obstetrician's office.
32
Machado-Aranda, David, Matthew Malamet, Yeon-Jeen Chang, et al. "Prevalence and Management of Gastrointestinal Stromal Tumors." American Surgeon 75, no. 1 (2009): 55–60. http://dx.doi.org/10.1177/000313480907500112.
Full textAbstract:
The prevalence and characteristics of patients with confirmed gastrointestinal stromal tumor (GIST) in a community hospital over a 6-year period are described. Our objective was to communicate our experience managing this rare tumor of the gastrointestinal tract. A retrospective chart review was performed. Patients were selected based on International Classification of Diseases, 9th Revision codes in correlation with their respective confirmational pathology. Patients with a diagnosis of GIST, cells of Cajal tumor, and/or different varieties of gastrointestinal sarcoma were included in this study. These tumors had to have a positive C-kit on immunohistochemistry. Demographic and clinical data were collected from medical records as well as pathology reports. Follow up from attendings’ office records and telephone interviews complemented our data. A total of 61 patients was identified in our institution (averaging 10 patients per year). Females represented 63 per cent of our series. The average ages were 70.2 ± 19.1 years for females and 59.4 ± 13.5 years for males ( P < 0.01). The most common clinical presentation was an intra-abdominal nonobstructing mass followed by an endoscopically detected mass or incidental tumors found during unrelated surgery. Surgical emergencies such as acute abdomen and gastrointestinal bleed were rare. Over half of these tumors were located in the stomach. Other sites were the small intestine, colon, esophagus, and rectal–vaginal septum. Opened surgical resection was performed in two-thirds of treated cases, whereas laparoscopic resection was done in the remainder. Only 18 per cent of these tumors were considered benign, whereas 35 per cent were considered to have some malignant potential and 47 per cent were of undetermined potential. In surgically resected tumors, we found a 42 per cent recurrence rate with a median average time of recurrence of 22 months. Pathologic grading and type of surgery were not predictors of rate and timing of recurrence. However, the disease tended to be more aggressive in white males and age older than 70 years. Imatinib was used mainly in attempts to downstage, control recurrent disease, and make surgery possible. With the improvement of immunohistochemical techniques, the diagnosis of GIST is increasing. Preoperative diagnosis is highly uncertain and dependent on clinical suspicion. Surgical resection is still the main form of curative therapy. Our experience is similar to large-volume centers. GIST, once recognized, can be treated in community hospitals without compromise of their care.
33
Barnholt, Kimberly E., Chuong B. Do, Amy K. Kiefer, et al. "Genome-wide analysis and characterization of an online sarcoma cohort." Journal of Clinical Oncology 30, no. 15_suppl (2012): 10097. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.10097.
Full textAbstract:
10097 Background: Recruitment of an adequately sized cohort for genome-wide studies presents a serious challenge for rare diseases such as sarcoma. Traditional barriers to participation include proximity of clinical centers and motivation or ability to travel. 23andMe’s web-based platform provides increased accessibility to research participation, facilitating rapid recruitment of patients (pts) and enabling a large-scale genome-wide association study (GWAS) of sarcoma. Methods: Sarcoma pts were recruited through web and email campaigns, patient advocacy groups, physician offices, and events. Pts provide IRB-approved consent, complete surveys, and receive updates about research progress through an online account. In collaboration with an uncompensated panel of academic experts, an online survey was developed to collect patient-reported data on diagnosis, family history, symptoms and treatment. Results: This web-based approach has accrued the largest genotyped, recontactable sarcoma cohort to date. In 20 months, 772 sarcoma pts have enrolled, 683 have been genotyped and 611 have provided data online. The cohort is primarily of European ancestry (92%), disproportionately female (72%), with an average age of 51 (± 15 years). More than 88% of pts indicated a soft tissue sarcoma diagnosis, with leiomyosarcoma, liposarcoma and “malignant fibrous histiocytoma” being the most commonly reported subtypes. Over 36% of pts report undergoing active treatment of some type. Association scans were conducted across a set of 8,058,452 imputed SNPs, using 568 unrelated sarcoma cases of European ancestry and >70,000 unrelated population controls from the 23andMe database. Initial results have identified no significant genome-wide associations for general sarcoma risk, despite having >90% power to detect risk variants with >5% minor allele frequency and odds ratio >2.5, suggesting the absence of common variants with strong shared effects across sarcoma subtypes. Conclusions: This pilot study demonstrates feasibility of rapid recruitment and longitudinal engagement of pts through online technology. Such techniques may significantly accelerate, and in some cases fully enable, large-scale genomic studies of sarcoma and other rare diseases.
34
Andersson, (Aino) Maria A., Johanna Salo, Raimo Mikkola, et al. "Melinacidin-Producing Acrostalagmus luteoalbus, a Major Constituent of Mixed Mycobiota Contaminating Insulation Material in an Outdoor Wall." Pathogens 10, no. 7 (2021): 843. http://dx.doi.org/10.3390/pathogens10070843.
Full textAbstract:
Occupants may complain about indoor air quality in closed spaces where the officially approved standard methods for indoor air quality risk assessment fail to reveal the cause of the problem. This study describes a rare genus not previously detected in Finnish buildings, Acrostalagmus, and its species A. luteoalbus as the major constituents of the mixed microbiota in the wet cork liner from an outdoor wall. Representatives of the genus were also present in the settled dust in offices where occupants suffered from symptoms related to the indoor air. One strain, POB8, was identified as A. luteoalbus by ITS sequencing. The strain produced the immunosuppressive and cytotoxic melinacidins II, III, and IV, as evidenced by mass spectrometry analysis. In addition, the classical toxigenic species indicating water damage, mycoparasitic Trichoderma, Aspergillus section Versicolores, Aspergillus section Circumdati, Aspergillus section Nigri, and Chaetomium spp., were detected in the wet outdoor wall and settled dust from the problematic rooms. The offices exhibited no visible signs of microbial growth, and the airborne load of microbial conidia was too low to explain the reported symptoms. In conclusion, we suggest the possible migration of microbial bioactive metabolites from the wet outdoor wall into indoor spaces as a plausible explanation for the reported complaints.
35
Zákoucká, H., V. Polanecký, and V. Kaštánková. "Syphilis and gonorrhoea in the Czech Republic." Eurosurveillance 9, no. 12 (2004): 13–14. http://dx.doi.org/10.2807/esm.09.12.00496-en.
Full textAbstract:
Syphilis remains a public health problem in the Czech Republic and worldwide. The Czech Republic - until 1993 a part of Czechoslovakia - has a long tradition in public health activities, and STI surveillance is mainly focused on the infections traditionally called venereal diseases - syphilis, gonorrhoea, chancroid, and lymphogranuloma venereum. Campaigns from the early 1950s, were successful in controlling syphilis and gonorrhoea; and chancroid and lymphogranuloma venereum infections are extremely rare. In late 1980s, a low incidence of newly reported syphilis cases was achieved (100-200 cases annually), while around 6500 cases of gonorrhoea were recorded annually during the same period. Health care and prevention of STI diseases in the Czech Republic are based on close cooperation between clinical departments and laboratory and epidemiological services of Environmental Health Offices. Annual statistics showing data on reported cases of ’venereal diseases’, based on ICD-10 codes, are available from 1959. Separate statistical data on other STIs are not available, and aggregated numbers only for Chlamydia trachomatis infections have been presented annually since 2000. Following the political and social changes in the Czech community in 1989, a distinct increase of syphilis was recorded. Between 50% and 60% of notified cases were classified as late latent or of unknown duration. The continuing annual occurrence of congenital syphilis (7-18 cases per year) reported during the 1990s has also been a very serious phenomenon. Cases have been concentrated in large urban areas with a high level of commercial sex activity, and a high proportion of cases is also noted in refugees. While the annual incidence of gonorrhoea gradually decreased from 1994 to 2001 (from 28.5 to 8.9 per 100 000 population), the incidence of syphilis increased in this period from 3.6 to 9.6 per 100 000 population (the highest value was 13.4 in 2001) and in 2000, for the first time in many years, it exceeded the incidence of gonorrhoea.
36
Köhler, Christina, Sebastian Werth, Luise Tittl, and Jan Beyer-Westendorf. "Acute Treatment Of Pulmonary Embolism With Rivaroxaban - Real Life Data From The Prospective Dresden Noac Registry (NCT01588119)." Blood 122, no. 21 (2013): 2380. http://dx.doi.org/10.1182/blood.v122.21.2380.2380.
Full textAbstract:
Abstract Background and Objectives In the EINSTEIN PE study rivaroxaban (RX) was found to be as effective as warfarin in the treatment of acute pulmonary embolism (PE) with superior safety. However, study results need to be confirmed in unselected PE patients in daily care. Patients and Methods Using prospectively collected data from a large regional registry of patients treated with novel direct oral anticoagulants (NOAC) in the district of Saxony, Germany, we evaluated the rate of recurrent VTE, other cardiovascular complications and bleeding events in patients receiving rivaroxaban for acute PE. In this ongoing registry, a network of 239 physicians enrols up to 2500 daily care NOAC patients who receive central prospective follow up (FU) by the registry office at day 30 day and quarterly thereafter to collect efficacy and safety data. All outcome events are centrally adjudicated using standard scientific definitions. Results Until July 31th 2013, 2249 patients were enrolled. Of these, 72 patients received RX for acute PE treatment (demographic data in table 1). Registry patients were older than the EINSTEIN PE population (67.3 vs. 55.8 years), 55.6% were female and 23.6% were treated for a recurrent VTE. During follow-up, unplanned rivaroxaban discontinuation rates were low (around 5%; table 1). So far, only one recurrent VTE event occurred (1.7 events per 100 patient years). One patient experienced non-fatal ischaemic stroke within 4 weeks after PE diagnosis (1.7 events per 100 patient years). Bleeding complications were frequent but only 2 major bleeding (non-fatal vaginal bleeds) occurred (3.3 events per 100 patient years). During follow-up three patients died of underlying diseases but none of these deaths were related to VTE or bleeding complications. Conclusion Acute PE treatment with rivaroxaban in daily care is effective, safe and well tolerated with low rates of unplanned treatment discontinuation. Thromboembolic and major bleeding complications are rare and seem to occur predominantly in the early phase of PE treatment. At ASH, updated results from our registry will be presented Disclosures: Werth: Bayer Healthcare: Honoraria. Beyer-Westendorf:Pfizer: Research Funding, Speakers Bureau; Boehringer Ingelheim: Research Funding, Speakers Bureau; Bayer Healthcare: Research Funding, Speakers Bureau.
37
Jones, Lyn H. "Rare diseases." Future Medicinal Chemistry 6, no. 9 (2014): 969–70. http://dx.doi.org/10.4155/fmc.14.59.
Full text
38
Lewis, Terri A. "Rare Diseases." Neurology Now 8, no. 3 (2012): 12. http://dx.doi.org/10.1097/01222928-201208030-00007.
Full text
39
ROBERTS;, C. M., A. E. TATTERSFIELD, and R. M. DU BOIS. "Rare diseases." Thorax 54, no. 12 (1999): 1140. http://dx.doi.org/10.1136/thx.54.12.1140b.
Full text
40
Denisov, I. N., Т. V. Zaugolnikova, Т. S. Popova, and Т. Е. Morozova. "ESTABLISHED COMORBIDITY IN ARTERIAL HYPERTENSION PATIENTS IN RURAL AREAS." Cardiovascular Therapy and Prevention 17, no. 2 (2018): 17–23. http://dx.doi.org/10.15829/1728-8800-2018-2-17-23.
Full textAbstract:
Aim. To analyze the specifics of comorbidity forming and agerelated correlations of the risk factors (RF) distribution in arterial hypertension (AH) patients living in rural areas.Material and methods. In 20152017 a retrospective analysis of 2500 patients database was done at two general practitioners offices in Konakovsky District of Tverskaya Oblast. Of those, 350 were selected (14%) at the age 4453 (164 males, 186 females) among the charts containing most complete data on the dispanserization. Additionally, surveying of the group was done for more detailed retrospective analysis of comorbidity and RF existence during lifetime of 2535 years.Results. In the structure of comorbidity AH predominates, which has been diagnosed in 50,86% of patients; mostly it is diagnosed at the age 4453 (81,06%). After AH, 2nd place is held by dorsopathies (24%), 3rd — gastrointestinal disorders (12%). For chronic pulmonary obstructive disease and cerebrovascular disease — it is less than 3%. 96,1% of men with AH are smokers at the age 18 to 53 y. o. By the age 53, in 40,26% of men and 36,63% of women there is bodyweight increase; and raised cholesterol — in 48,05% and 22,77%, respectively.Conclusion. In rural areas inhabitants, the formation of comorbidity is ongoing mostly at age 4453 y. o. Of the specifics of comorbidity in these patients, there is often combination of AH with dorsopathies, and quite rare — with chronic obstructive lung disease or cerebrovascular diseases. The observed at the age 3443 “diagnostic gap” points on the necessity for attention to this exact age strata with the aim of ontime diagnostics and early stages of diseases reveal. The structure of RF during the lifetime is not homogenic and is the highest at the age of comorbidity forming (except smoking and professional harms). All the considered RF are more prominent in men than in women.
41
The Lancet Neurology. "Rare advances for rare diseases." Lancet Neurology 16, no. 1 (2017): 1. http://dx.doi.org/10.1016/s1474-4422(16)30352-0.
Full text
42
Shalnova, O. A., M. M. Kirillov, M. M. Orlova, S. M. Kirillov, and E. S. Chumakova. "Lung diseases in called-up aged patients." PULMONOLOGIYA, no. 2 (April 28, 2005): 57–62. http://dx.doi.org/10.18093/0869-0189-2005-0-2-57-62.
Full textAbstract:
A problem of lung pathology in called up aged men notwithstanding its great significance has not been studied completely. Four hundred outpatients of the Saratov Pulmonary Center were recruited to this investigation. Of them, 243, or 60.7 %, patients of called up age and younger were admitted by military registration offices. Sixty patients (15 %) more of the same age were admitted to the clinic by city outpatient departments for treatment. Asthma prevailed at the nosology structure of lung diseases in the called up aged patients (90.1 %); chronic obstructive bronchitis (COB) (4.5 %) and chronic non obstructive bronchitis (CNOB) (2.9 %) were rarer. Most of the patients (91.4 %) were in stable condition. Of the patients admitted by the outpatient departments, asthma and COB also predominated but 63.4 % of them had acute exacerbations. Such situation apparently reflects different motivations of admission to a hospital in these patient groups (expert evaluation or conventional diagnosis and treatment). Preliminary diagnosis of the military registration offices was mostly confirmed. The diagnosis was changed in 10 % of the cases demonstrating under estimation or overestimation of asthma and COB, 30 % of the patients needed the diagnosis to be verified. The collective "portrait" of a called up aged man is the following: a student of 17 years old with stable intermittent or mild persistent asthma, rarer mild COB, with no lung function disorders, low blood eosinophil number, regular pollinosis, not requiring therapy.
43
Fox, Mary A., Richard Todd Niemeier, Naomi Hudson, Miriam R. Siegel, and Gary Scott Dotson. "Cumulative Risks from Stressor Exposures and Personal Risk Factors in the Workplace: Examples from a Scoping Review." International Journal of Environmental Research and Public Health 18, no. 11 (2021): 5850. http://dx.doi.org/10.3390/ijerph18115850.
Full textAbstract:
Protecting worker and public health involves an understanding of multiple determinants, including exposures to biological, chemical, or physical agents or stressors in combination with other determinants including type of employment, health status, and individual behaviors. This has been illustrated during the COVID-19 pandemic by increased exposure and health risks for essential workers and those with pre-existing conditions, and mask-wearing behavior. Health risk assessment practices for environmental and occupational health typically do not incorporate multiple stressors in combination with personal risk factors. While conceptual developments in cumulative risk assessment to inform a more holistic approach to these real-life conditions have progressed, gaps remain, and practical methods and applications are rare. This scoping review characterizes existing evidence of combined stressor exposures and personal factors and risk to foster methods for occupational cumulative risk assessment. The review found examples from many workplaces, such as manufacturing, offices, and health care; exposures to chemical, physical, and psychosocial stressors combined with modifiable and unmodifiable determinants of health; and outcomes including respiratory function and disease, cancers, cardio-metabolic diseases, and hearing loss, as well as increased fertility, menstrual dysfunction and worsened mental health. To protect workers, workplace exposures and modifiable and unmodifiable characteristics should be considered in risk assessment and management. Data on combination exposures can improve assessments and risk estimates and inform protective exposure limits and management strategies.
44
Alsawas, Mouaz, Zhen Wang, M. Hassan Murad, and Mohammed Yousufuddin. "Gender disparities among hospitalised patients with acute myocardial infarction, acute decompensated heart failure or pneumonia: retrospective cohort study." BMJ Open 9, no. 1 (2019): e022782. http://dx.doi.org/10.1136/bmjopen-2018-022782.
Full textAbstract:
ObjectiveTo assess gender disparity in outcomes among hospitalised patients with acute myocardial infarction (AMI), acute decompensated heart failure (ADHF) or pneumonia.DesignA retrospective cohort study.SettingA tertiary referral centre in Midwest, USA.ParticipantsWe evaluated 12 265 adult patients hospitalised with ADHF, 15 777 with AMI and 12 929 with pneumonia, from 1 January 1995 through 31 August 2015. Patients were selected using International Classification of Diseases, Ninth Revision, Clinical Modification codes.Primary and secondary outcome measuresPrevalence of comorbidities, 30-day mortality and 30-day readmission. Comorbidities were chosen from the 20 chronic conditions, specified by the Office of the Assistant Secretary for Health. Logistic regression analysis was conducted adjusting for multiple confounders.ResultsPrevalence of comorbidities was significantly different between men and women in all three conditions. After adjusting for age, length of stay, multicomorbidities and residence, there was no significant difference in 30-day mortality between men and women in AMI or ADHF, but men with pneumonia had slightly higher 30-day mortality with an OR of 1.19 (95% CI 1.06 to 1.34). There was no significant difference in 30-day readmission between men and women with AMI or pneumonia, but women with ADHF were slightly more likely to be readmitted within 30 days with OR 0.90 (95% CI 0.82 to 0.99).ConclusionGender differences in the distribution of comorbidities exist in patients hospitalised with AMI, ADHF and pneumonia. However, there is minimal clinically meaningful impact of these differences on outcomes. Efforts to address gender difference may need to be diverted towards targeting overall population health, reducing race/ethnicity disparity and improving access to care.
45
Koo, Jung-Wan. "Occupational Diseases among Office Workers." Hanyang Medical Reviews 30, no. 4 (2010): 274. http://dx.doi.org/10.7599/hmr.2010.30.4.274.
Full text
46
Dale, David C., Audrey Anna Bolyard, Cornelia Zeidler, et al. "Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR)." Blood 124, no. 21 (2014): 2730. http://dx.doi.org/10.1182/blood.v124.21.2730.2730.
Full textAbstract:
Abstract Background: In 1994 Severe Chronic Neutropenia International Registry (SCNIR) opened for enrollment of patients with at least 3 absolute neutrophil counts (ANC) less than 0.5 x 109/L during a three month period. At that time severe chronic neutropenia (SCN) was categorized as cyclic, congenital, autoimmune or idiopathic based largely on clinical criteria. A randomized trial had established effectiveness of treatment with granulocyte colony-stimulating factor (G-CSF), but long-term consequences of such treatment were unknown. Hypothesis: We began the SCNIR based on the hypothesis that underlying pathophysiology, natural history of patients with chronic neutropenia and benefits and risk of G-CSF therapy could only be accurately established through an international registry with long term follow-up of patients with these rare hematological disorders. Methods: SCNIR enrollment requires informed consent, ANC<0.5 x 109/L at least 3 times over a 3 month period, neutropenia not due to known systemic autoimmune disease (e.g., lupus, rheumatoid arthritis), cancer or cancer chemotherapy. There is a centralized enrollment process directed through offices in the US (Seattle) and Germany (Hannover). Continued enrollment requires annual follow-up information, i.e., clinical status, treatments and blood counts, and bone marrow reports for some categories of patients. Data on pregnancies, stem cell transplantation (SCT), non-hematological features and complications are also collected on standardized forms for subsets of patients. Comprehensive immunological assessments and genetic testing are encouraged but not required for enrollment. For some patient groups, e.g., Shwachman-Diamond syndrome (SDS) and Barth syndrome, the SCNIR now enrolls patients without severe neutropenia to gain perspectives on long-term outcomes for these disorders. Since 1994 the SCNIR has enrolled more than 2000 patients; 174 died, 193 resolved neutropenia, 543 withdrew or were lost to follow-up and almost all others continue in this long term observation study. The median follow-up for enrolled patients is now almost 10 years. The most common patient categories are idiopathic, cyclic (CyN) and congenital neutropenia (CN); 68% of CyN and 65% of CN patients having sequencing studies have mutations in ELANE. Some specific mutations are associated with high frequency (>90%) of severe outcomes (e.g. MDS/AML, failure to respond to G-CSF, death from infections, need for stem cell transplant) often many years after SCNIR enrollment and beginning G-CSF therapy. GSD1 patients improve with G-CSF treatment, but experience splenomegaly and continued problems with infections or complications. The SCNIR through a SDS sub-registry is redefining Shwachman-Diamond syndrome; only about one-half of enrollees have “classic” presentation and a substantial number with “classic presentation” lack mutations in SBDS. The SCNIR is participating in an NIH trial of a CXCR4 antagonist for treatment of WHIM syndrome, as an example of molecularly targeted treatment for this rare disease. The SCNIR is also the key resource for discovery of genetic causes for congenital neutropenia, e.g., G6PC3, HAX1, and TCIRG1 and others, recognition of differences in frequency of autosomal dominant and recessive SCN in populations of Europe and North America and identifying congenital neutropenia cases of unknown cause. Genetic testing has also broadened the clinical spectrum of these disorders. Conclusions: Through the efforts of patients, families, physicians, nurses and investigators, and with support from the NIH, industry, and private philanthropy, chronic neutropenia is now far better understood at the genetic, molecular and cellular level than 20 years ago. Treatment responses to G-CSF are well characterized; novel therapies are emerging; and the prognosis for patients with SCN appears to be improving. The knowledge gained through the SCNIR and availability of G-CSF has redefined clinicians’ approach to chronic neutropenia. The SCNIR is a model of international research collaboration to understand rare diseases in hematology and other areas of medicine. Broad enrollment criteria, physician, patient and family participation, a dedicated staff, and continuing cooperation underlie success of the SCNIR and this model to understanding rare diseases. Disclosures Dale: Amgen: Consultancy, Honoraria, Research Funding. Boxer:Amgen: Equity Ownership. Morrow:Amgen: Employment.
47
SCHWARTZ, PETER J., SILVIA G. PRIORI, and CARLO NAPOLITANO. "How Really Rare Are Rare Diseases?:." Journal of Cardiovascular Electrophysiology 14, no. 10 (2003): 1120–21. http://dx.doi.org/10.1046/j.1540-8167.2003.03339.x.
Full text
48
Attiyeh, Edward F., and John M. Maris. "Identifying Rare Events in Rare Diseases." Clinical Cancer Research 21, no. 8 (2014): 1782–85. http://dx.doi.org/10.1158/1078-0432.ccr-14-2314.
Full text
49
Gasser, Susan M., James R. Lupski, Yann Le Cam, and Olivier Menzel. "Rare day to highlight rare diseases." Nature 481, no. 7381 (2012): 265. http://dx.doi.org/10.1038/481265a.
Full text
50
Mascalzoni, Deborah, Bartha Maria Knoppers, Ségolène Aymé, et al. "Rare diseases and now rare data?" Nature Reviews Genetics 14, no. 6 (2013): 372. http://dx.doi.org/10.1038/nrg3494.
Full text