Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Orphan Drug Production: Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.Lymphangioleiomyomatosis: A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).Lithiasis: A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract.Patient Advocacy: Promotion and protection of the rights of patients, frequently through a legal process.Legislation, Drug: Laws concerned with manufacturing, dispensing, and marketing of drugs.Actinomycosis: Infections with bacteria of the genus ACTINOMYCES.Pulmonary Alveolar Proteinosis: A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Drug Approval: Process that is gone through in order for a drug to receive approval by a government regulatory agency. This includes any required pre-clinical or clinical testing, review, submission, and evaluation of the applications and test results, and post-marketing surveillance of the drug.Neuroaxonal Dystrophies: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.National Institutes of Health (U.S.): An operating division of the US Department of Health and Human Services. It is concerned with the overall planning, promoting, and administering of programs pertaining to health and medical research. Until 1995, it was an agency of the United States PUBLIC HEALTH SERVICE.Histiocytosis, Langerhans-Cell: A group of disorders resulting from the abnormal proliferation of and tissue infiltration by LANGERHANS CELLS which can be detected by their characteristic Birbeck granules (X bodies), or by monoclonal antibody staining for their surface CD1 ANTIGENS. Langerhans-cell granulomatosis can involve a single organ, or can be a systemic disorder.Birt-Hogg-Dube Syndrome: Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).Health Level Seven: An American National Standards Institute-accredited organization working on specifications to support development and advancement of clinical and administrative standards for healthcare.Patient Rights: Fundamental claims of patients, as expressed in statutes, declarations, or generally accepted moral principles. (Bioethics Thesaurus) The term is used for discussions of patient rights as a group of many rights, as in a hospital's posting of a list of patient rights.Biological Ontologies: Structured vocabularies describing concepts from the fields of biology and relationships between concepts.Retroperitoneal Fibrosis: A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis.Histiocytoma: A neoplasm containing HISTIOCYTES. Important forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA.European Union: The collective designation of three organizations with common membership: the European Economic Community (Common Market), the European Coal and Steel Community, and the European Atomic Energy Community (Euratom). It was known as the European Community until 1994. It is primarily an economic union with the principal objectives of free movement of goods, capital, and labor. Professional services, social, medical and paramedical, are subsumed under labor. The constituent countries are Austria, Belgium, Denmark, Finland, France, Germany, Greece, Ireland, Italy, Luxembourg, Netherlands, Portugal, Spain, Sweden, and the United Kingdom. (The World Almanac and Book of Facts 1997, p842)Drug Industry: That segment of commercial enterprise devoted to the design, development, and manufacture of chemical products for use in the diagnosis and treatment of disease, disability, or other dysfunction, or to improve function.United States Food and Drug Administration: An agency of the PUBLIC HEALTH SERVICE concerned with the overall planning, promoting, and administering of programs pertaining to maintaining standards of quality of foods, drugs, therapeutic devices, etc.Urea Cycle Disorders, Inborn: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.Erdheim-Chester Disease: A rare form of non-Langerhans-cell histiocytosis (HISTIOCYTOSIS, NON-LANGERHANS-CELL) with onset in middle age. The systemic disease is characterized by infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones.Eosinophilic Granuloma: The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS.Angioedemas, Hereditary: Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.Iron Metabolism Disorders: Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)Medical Laboratory Personnel: Health care professionals, technicians, and assistants staffing LABORATORIES in research or health care facilities.Epidermolysis Bullosa: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.Breast Neoplasms, Male: Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females.Academies and Institutes: Organizations representing specialized fields which are accepted as authoritative; may be non-governmental, university or an independent research organization, e.g., National Academy of Sciences, Brookings Institution, etc.Tropheryma: A genus of gram-positive bacteria in the family Cellulomonadaceae.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Biomedical Research: Research that involves the application of the natural sciences, especially biology and physiology, to medicine.Syndrome: A characteristic symptom complex.
Texas Brothers Diagnosed With Rare, Mystery Disease - ABC NewsA Rare Disease Without a Cure Sharon Lagas, president of the Alport Syndrome Foundation, said that the Naquin family's ... "When they tell you your child has a rare disease you know nothing about and then they send you to the Internet, I can't ... We'll be joined by the National Organization of Rare Diseases and the Alport Syndrome Foundation as well as hundreds of ... Because Alport is such a rare disease and the initial symptoms are common to many other conditions, it's often missed. ...
Roche CEO would not rule out move into rare diseases | ReutersSwiss drugmaker Roche Holding AG would not rule out a move into treatments for rarediseases, Chief Executive Severin Schwan ... Asked if that meant he did not exclude a move into rare diseases, Schwan said: "We go where the science takes us - independent ... PARIS, Oct 23 (Reuters) - Swiss drugmaker Roche Holding AG would not rule out a move into treatments for rare diseases, Chief ...
2 children with Lipodystrophy - advice please:( - Rare Diseases - MedHelpmy 2 1/2 yr old has a rare form of Lypodystropy ( Diagnosed just after turning 2). Doctors arent sure which.Symptoms: Bruising ... my 2 1/2 yr old has a rare form of Lypodystropy ( Diagnosed just after turning 2). Doctors arent sure which.Symptoms: Bruising ... my 2 1/2 yr old has a rare form of Lypodystropy ( Diagnosed just after turning 2). Doctors arent sure which.Symptoms: Bruising ... condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or ...
Rare Disease Northern Ireland Forum · CausesRare Disease Northern Ireland is the first step for Northern Iireland to set up its own Rare Disease Family Support Group we ... who attended The Cavan Tommy Hoey Trust Rare Disease Day Event on the 28th Feb 2011 to attend Northern Irelands Rare Disease ... Rare Disease Northern Ireland Forum. We are glad to wellcome anyone who attended The Cavan Tommy Hoey Trust Rare Disease Day ... Rare Disease Northern Ireland is the first step for Northern Iireland to set up its own Rare Disease Family Support Group we ...
A cautionary tale on genome-sequencing diagnostics for rare diseases | EurekAlert! Science NewsSanford-Burnham researchers discover that several children born with rare diseases called congenital disorders of glycosylation ... Searching for a rare disease mutation. Complicated arrangements of sugar molecules decorate almost every protein and cell in ... A cautionary tale on genome-sequencing diagnostics for rare diseases Sanford-Burnham researchers discover that several children ... A cautionary tale on genome-sequencing diagnostics for rare diseases. Sanford-Burnham Prebys Medical Discovery Institute ...
Invitae Pediatric, Neurological, and Rare Disease Test Expansion | GenomeWeb... and rare disease offerings. The new offerings allow clinicians to gain information on 183 genes with clinical and diagnostic ... Home » Resources » New Products » Invitae Pediatric, Neurological, and Rare Disease Test Expansion ... and rare disease offerings. The new offerings allow clinicians to gain information on 183 genes with clinical and diagnostic ... Explify Respiratory detects more than 200 common and rare bacterial, fungal, and viral respiratory pathogens with a single test ...
Herndon committed to cure for rare disease - Houston Chronicle... www.chron.com/neighborhood/woodlands/news/article/Herndon-committed-to-cure-for-rare-disease-9486172.php ... Herndon's full-time passion is trying to find a treatment for Batten disease to save her nine-year old son, Will, who is ... Along with her husband, Herndon founded The Will Herndon Fund for Juvenile Batten Disease Research. After Will's diagnosis in ... To help support the disease researchers, Herndon joined The Blue Bird Circle Clinic of Neurology at Texas Children's Hospital ...
Ranedis and AMO Partner to Develop HDAC Inhibitor for Rare Genetic Diseases | GENFirm claims RND-001 demonstrates enhanced brain exposure and efficacy in mouse model of Neimann-Pick Type C disease ... Ranedis and AMO Partner to Develop HDAC Inhibitor for Rare Genetic Diseases * AMO Pharma and Ranedis Pharmaceuticals inked a ... Founded in February 2015, AMO Pharma is acquiring a pipeline of therapeutic assets for treating rare and orphan diseases. The ... for treating rare and neglected diseases. The firm says that in addition to demonstrating promising results in the NPC mouse ...
Powassan Virus, Rare Tick-Borne Condition, Is Much Deadliner Than Lyme Disease... which is spread by ticks but is deadlier than Lyme disease. ... Ticks Can Spread a Rare Virus That's Worse Than Lyme Disease. ... Luckily, Powassan virus is extremely rare. Only 75 cases have been reported to the Centers for Disease Control and Prevention ... That disease is the Powassan virus, which is transmitted by deer ticks just like Lyme disease. And all a tick needs is 15 ... Meanwhile, this year has been predicted to be very bad for Lyme disease, based on a model that looks at the number of mice the ...
Family resilient in coping with boy's rare disease | IOL LifestyleFamily resilient in coping with boy's rare disease. Health & Wellness / 3 April 2017, 3:44pm / Sipokazi Fokazi ... Family resilient in coping with boy's rare disease. Share this article with a friend. Your Name:. ... Luke suffers from a rare syndrome called Prader-Willi Syndrome.. WHEN Luke Legemaate was born 11 years ago, his parents knew ... His parents, who live in Gillitts in Durban, were told that he had Prader-Willi Syndrome (PWS), a rare genetic disorder that is ...
Rare Diseases Clinical Research Network (RDCRN)The Rare Diseases Clinical Research Network (RDCRN) an initiative of the Office of Rare Diseases Research, NCATS, is made up of 21 research groups (consortia) and a Data Management and Coordinating Center that are working together to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community. The RDCRN provides up-to-date information for patients and assists in connecting patients with advocacy groups, expert doctors, and clinical research opportunities. More about the RDCRN ,. ...
How to find the rare disease zebra behind you - Orphan DrugsIf you hear hooves behind you, don't turn around and expect to find a zebra. It's an old adage, essentially meaning that common diseases are common and rare diseases are rare.. But if you're a medical professional working in the field of rare diseases, the zebra is exactly what you want to find. When diagnosing a patient who is 'tired all the time', you might first think of anaemia, or low mood, stress, or hypothyroidism. The list of common causes is very long. But what if the diagnosis is none of these? What if the case is particularly difficult? How does the medical professional hunt down the zebra?. FindZebra is a search engine for rare diseases - and carries a warning that it is a research project only to be used by medical professionals. "Rare diseases are especially difficult to diagnose and this online medical search engines comes in ...
Orphanet Journal of Rare Diseases | Home page|p|The official journal of Orphanet, the international portal for rare diseases and orphan drugs, Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high quality reviews solicited from experts in the field and also considers research on rare diseases and results of clinical trials of exceptional interest.|/p|
Research Explains Cause of Rare Genetic Disease Goldman-Favre SyndromeA research report has helped scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision.
Save the date - 2nd Biennial Australian Rare Lung Disease Short Course | Lung Foundation AustraliaSydney - 16 and 17 October 2015 Following the success of the first Australian Rare Lung Disease Short Course in 2013, Lung Foundation Australia is proud to
Registration now open - 2nd Biennial Australian Rare Lung Disease Short Course | Lung Foundation AustraliaRegistrations are now open for the biannual Australian Rare Lung Disease Short Course 2015 which is in Sydney on 16 and 17 October. The one and a half day
Registration Now Open For the 2nd Biennial Australian Rare Lung Disease Short Course | Lung Foundation AustraliaSydney 16th and 17th October 2015 Registration for the 2nd Biennial Australian Rare Lung Disease Short Course 2015 is now officially open and the Registration
EURORDIS - The Voice of Rare Disease Patients in EuropeDecide provides a fantastic opportunity to learn about some of the key issues facing rare disease patient groups today. I was thoroughly impressed by the quality of the session and how much I learnt.'. Jana Mbundi, Tuberous Sclerosis Association:. "I've already taken part in three Decide sessions. This debate session is a great tool to engage people from all walks of life to talk about various issues relating to rare disease patients and their families. It can easily be used to increase public awareness of rare diseases, the obstacles patients and their families have to deal with, possible solutions and what the general public can do to help.". ...
Rare Disease UK... (RDUK) is the national campaign for people with rare diseases and all who support them. We believe that everyone living with a rare disease should be able to receive high quality services, treatment and support.
Rare Disorders without Borders, An All-Ireland meeting to mark International Rare Disease Day 2013 Registration, Thu, 28 Feb...Eventbrite - Rare Disorders Without Borders. Coordinated by those organisations that bring together patient groups associated with rare diseases on the island of Ireland. presents Rare Disorders without Borders, An All-Ireland meeting to mark International Rare Disease Day 2013 - Thursday, 28 February 2013 at Dublin City Hall, Dublin, County Dublin. Find event and registration information.
Precision Medicine: Much More Than Just Genetics | DNA Science Blog7. Following people whose DNA indicates they should have a single-gene (Mendelian) disease but don't, and finding similarities in the genomes of others like them, may reveal inherited protections. Spinal muscular atrophy I, for example, is a devastating disease that destroys motor neurons and is typically lethal within a year of birth. But in some families, two children have mutations in both copies of the survival motor neuron gene (SMN1) that causes SMA, but only one is sick. The lucky other also inherited a variant of a second gene, plastin 3, that counteracts the first. The interaction makes sense. Absent or abnormal SMN1 protein shortens axons, while the variant of plastin 3 protein lengthens them. The effects of the two mutations cancel each other out, and a child develops normally.. 8. The rare disease community will be helped, not abandoned, by the Cohort Program. James Radke, PhD, at Rare Disease Report, pointed out that mutations in rare disease ...
Rare Disease Day ® 2018The main objective of Rare Disease Day 2018 is to raise awareness with policy makers and the public of rare diseases and of their impact on the lives of patients, and to reinforce their importance as a public health priority.
Big Ridge student has rare genetic disease that causes severe burns from sun | Times Free PressThe Make-A-Wish Foundation of East Tennessee is raising money for Jack Zinkann to do something he and his family have dreamed of for years: swim with dolphins.
Nicolas Lévy | RD-CONNECTProfessor Nicolas Lévy leads the Department of Medical Genetics and the Inserm UMR_S 910 research lab in Marseille. He is responsible for numerous projects on rare diseases and has a special interest in neuromuscular disorders and premature ageing. As a clinician and researcher engaged primarily in translational medicine in rare diseases, he is also the principal investigator for the EU trial in Progeria conducted in Marseille and is involved in other therapeutic studies.. Nicolas was appointed Director of the French Institute for Rare Diseases (GIS-Institut des maladies rares) in 2009 and in 2012 became the Scientific Director of the French Rare Disease Foundation (Fondation Maladies Rares). In 2013 he was awarded the Grand Prix Robert-Debré 2012 for clinical research by the Association Robert Debré for medical research (ARDRM).. Nicolas's activity is ...
Next generation of viral vectors, called AAV 3.0, for gene therapies and genome editing - Scienmag: Latest Science and Health...PHILADELPHIA-The Perelman School of Medicine at the University of Pennsylvania has launched a new program, called AAV 3.0™, to create new viral vectors to find quicker and better treatments for an array of diseases. James M. Wilson, MD, PhD, a professor of Medicine and director of the Orphan Disease Center, will lead an interdisciplinary team of over 30 scientists to create this new technology platform with support provided by the University of Pennsylvania Health System.. The current wave of clinical applications of gene therapy is largely based on a new family of adeno-associated virus (AAV) vectors - the most commonly used viral vectors today - developed over 10 years ago by Wilson's laboratory at Penn. AAVs are used to ferry corrected genes and other small nucleic acids into cells. Translation of AAV gene therapy into the clinic has largely been in the treatment of disabling and lethal rare genetic diseases where the need is the greatest.. ...
Crowdfunding to help fund research for people with rare diseases via the Steve Waugh Foundation on JustGivingWeʼre raising money to help fund research for people with rare diseases via the Steve Waugh Foundation. Support this JustGiving Crowdfunding Page.
Kind World: 6-Year-Old Devises Plan To Cure Best Friend's Rare Disease : NPRDylan Siegel was 6 years old when he hatched a plan to cure his best friend's rare disease. He ended up raising more than $1 million. Erika Lantz of the Kind World series brings us their story.
Three cull workers contract rare disease; Foot And Mouth Soldiers Who Worked On Northumberland Farms Fall Victim To Q Fever ...Three cull workers contract rare disease; Foot And Mouth Soldiers Who Worked On Northumberland Farms Fall Victim To Q Fever * Health Officials Warned To Look For Symptoms
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Rare Cancer Support Forum • MembersThe views and comments entered in these forums are personal experiences only. The contents of this forum, and the Rare Cancer Alliance website, should not be considered medical advice. Please review all information with your medical professionals. ...
Rare Cancer Support Forum • MembersThe views and comments entered in these forums are personal experiences only. The contents of this forum, and the Rare Cancer Alliance website, should not be considered medical advice. Please review all information with your medical professionals. ...
Rare Cancer Support Forum • Viewing profile - sharonThe views and comments entered in these forums are personal experiences only. The contents of this forum, and the Rare Cancer Alliance website, should not be considered medical advice. Please review all information with your medical professionals. ...
One family's lonely struggle against their child's rare disease | PBS NewsHourSince her daughter's diagnosis, Lauren quit her job in the healthcare system and manages Brynleigh's care full-time. Today, Brynleigh is a walking, talking and smiling two-year-old who can count to five, loves milk and wonton soup, playing on her parents' phones and storytime, but her development lags about 20 percent behind her peers, Lauren said. And at one point, Brynleigh endured as many as eight seizures per day. Lauren schedules appointments with doctors, coordinates her three speech and occupational therapy sessions each week, argues with insurance companies about medical coverage, researches pediatric experts in tuberous sclerosis and calls in prescriptions to control Brynleigh's seizures. Sean works in healthcare information technology and his salary supports the household. "The medical bills have been outrageous from this. We're only in year two of her life. It's very scary for us," Lauren said.. Her tumors and medication leave Brynleigh's immune system constantly on-guard. She seldom ...
RDCRN Contact Registry: The Rare Diseases Clinical Research Network (RDCRN) Contact Registry is an international patient contact registry sponsored by the National Institutes of Health. This registry collects basic data (i.TOL101: TOL101, is a murine-monoclonal antibody specific for the human αβ T cell receptor. In 2010 it was an Investigational New Drug under development by Tolera Therapeutics, Inc.LymphangioleiomyomatosisHepatolithiasis: Hepatolithiasis is the presence of gallstones in the biliary ducts of the liver. Treatment is usually surgical.Patient advocacyActinomycosisPulmonary alveolar proteinosisDense artery sign: In medicine, the dense artery sign or hyperdense artery sign is a radiologic sign seen on computer tomography (CT) scans suggestive of early ischemic stroke. In earlier studies of medical imaging in patients with strokes, it was the earliest sign of ischemic stroke in a significant minority of cases.Marketing authorization: Process of reviewing and assessing the dossier to support a medicinal product in view of its marketing (also called licensing, registration, approval, etc.), finalized by granting of a document also called marketing authorization (MA) (equivalent: product license).Neurodegeneration with brain iron accumulation: Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities.Gross examinationNon-Langerhans cell histiocytosis: Non-Langerhans cell histiocytosis refers to a family of histiocytosis characterized by the absence of Langerhans cells.Pulmonary cystMETeOR: METeOR (Metadata Online Registry), Australia’s repository for national metadata standards for health, housing and community services statistics and information. METeOR is a Metadata registry based on the 2003 version of the ISO/IEC 11179 Information technology - Metadata registries standard.Mouse Phenome Database: The Mouse Phenome Database (MPD) is a web-accessible database of strain characterization data for the laboratory mouse, to facilitate translational research for human health and disease. MPD characterizes phenotype as well as genotype, and provides tools for online analysis.Multifocal fibrosclerosis: Multifocal fibrosclerosis and idiopathic fibrosclerosis are disorders of unknown aetiology, characterised by fibrous lesions (co-)occurring at a variety of sites. Known manifestations include retroperitoneal fibrosis, mediastinal fibrosis and Riedel's thyroiditis.Progressive nodular histiocytoma: Progressive nodular histiocytoma is a cutaneous condition characterized by generalized, discrete yellow papules and nodules with prominent facial involvement.European Union climate and energy package: The European plan on climate change consists of a range of measures adopted by the members of the European Union to fight against climate change. The plan was launched in March 2007, and after months of tough negotiations between the member countries, it was adopted by the European Parliament on December 2008.Pharmaceutical manufacturing: Drug manufacturing is the process of industrial-scale synthesis of pharmaceutical drugs by pharmaceutical companies. The process of drug manufacturing can be broken down into a series of unit operations, such as milling, granulation, coating, tablet pressing, and others.IontocaineEosinophilic ulcer of the oral mucosa: Eosinophilic ulcer of the oral mucosa (also known as "Eosinophilic ulcer of the tongue," "Riga–Fede disease," and "Traumatic eosinophilic granuloma") is a condition characterized by an ulcer with an indurated and elevated border. The lesion might be tender, fast-growing and the patient often not be aware of any trauma in the area.EcallantideList of diseases (E): This is a list of diseases starting with the letter "E".Toronto Western Research Institute: The Toronto Western Research Institute (TWRI) is a non-profit academic medical research institute located in Canada’s largest city, Toronto. The TWRI is one the principal research institutes of the University Health Network of academic teaching hospitals associated with the University of Toronto; the TWRI is also one of the largest research institutes in Canada focussing on human neurological disease from both a basic science and clinical research perspective.Tropheryma whipplei: Tropheryma whipplei, formerly called Tropheryma whippelii, is a bacterium and the causative organism of Whipple's disease and rarely endocarditisSystematic Protein Investigative Research EnvironmentMalformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).
(1/535) Granular cell tumor of the mediastinum.
Mediastinal granular cell tumor is an exceptionally rare tumor; there are only a few previously reported cases. We report a 21-year-old man with a granular cell tumor in the right posterior mediastinum. Chest computed tomography scans and magnetic resonance imaging revealed a 15x20 mm well circumscribed, homogeneous mass, which was closely associated with the vertebral column. The T1-weighted magnetic resonance image showed low intensities, and moderate intensities were found on the T2-weighted magnetic resonance image. Gd-DTPA enhancement was remarkable on the tumor surface. The present case differed from ordinary neurogenic tumors in magnetic resonance imaging findings. Thoracoscopic resection of the tumor was performed. The tumor was associated with the sympathetic nerve. Histologic analysis revealed a benign granular cell tumor. (+info)
(2/535) Multicentric Castleman's disease manifesting in the lung: clinical, radiographic, and pathologic findings and successful treatment with corticosteroid and cyclophosphamide.
Multicentric Castleman's disease (MCD) is an uncommon and often incurable lymphoproliferative disorder. There has been some recent evidence that rare cases of MCD manifest diffuse lung involvement, but the features in these cases are not well characterized. We report just such a biopsy-proven case of MCD with typical laboratory abnormalities including serum interleukin-6 elevation and characteristic high-resolution CT findings. Immunopathologically, the features of the lung tissue resembled those of lymphocytic interstitial pneumonia with predominant infiltration of B cells and plasma cells. In addition, the abnormal appearance of B cells in bronchoalveolar lavage fluid was of diagnostic value. Although MCD is often refractory to treatment including corticosteroid, chemo- and immuno-therapy, we show successful treatment with corticosteroid and cyclophosphamide and 4 years of complete remission. (+info)
(3/535) Very severe aplastic anemia appearing after thymectomy.
Aplastic anemia is a rare complication of thymoma and is extremely infrequent after thymectomy. We present a case of a 60-year-old woman with very severe aplastic anemia appearing sixteen months after thymectomy for a thymoma. She underwent thymectomy for a thymoma in April 2000. Preoperative examination revealed no hematologic abnormality. About sixteen months after the operation, she was readmitted because of pancytopenia with cough and fever. Bone marrow aspiration revealed a very severe hypoplasia in all the three cell lines with over 80% fatty tissue, and chest CT revealed no recurrence of thymoma. Her aplastic anemia had responded to cyclosporine A and granulocyte-colony stimulating factor (G-CSF). (+info)
(4/535) Extension of adrenocortical carcinoma into the right atrium--echocardiographic diagnosis: a case report.
BACKGROUND: Adrenocortical carcinoma is a rare, highly malignant tumor. Cardiac involvement of the tumor is very rare. Echocardiography facilitates the evaluation of the cardiac involvement of the tumor. CASE PRESENTATION: We describe a patient with an adrenal tumor. Transthoracic echo showed its extension into the right atrium. Accordingly, a combined abdominal and cardiac operation was performed, monitored by transesophageal echocardiography. CONCLUSION: This case highlights the importance of echocardiography in revealing the cardiac involvement by this tumor and in planning the operative procedure. (+info)
(5/535) Itraconazole to prevent fungal infections in chronic granulomatous disease.
BACKGROUND: Chronic granulomatous disease is a rare disorder in which the phagocytes fail to produce hydrogen peroxide. The patients are predisposed to bacterial and fungal infections. Prophylactic antibiotics and interferon gamma have reduced bacterial infections, but there is also the danger of life-threatening fungal infections. We assessed the efficacy of itraconazole as prophylaxis against serious fungal infections in chronic granulomatous disease. METHODS: Thirty-nine patients at least 5 years old (6 female and 33 male; mean age, 14.9 years) were enrolled in a randomized, double-blind, placebo-controlled study. After the initially assigned treatment, each patient alternated between itraconazole and placebo annually. Patients 13 years of age or older and all patients weighing at least 50 kg received a single dose of 200 mg of itraconazole per day; those less than 13 years old or weighing less than 50 kg received a single dose of 100 mg per day. The primary end point was severe fungal infection, as determined by histologic results or culture. RESULTS: One patient (who had not been compliant with the treatment) had a serious fungal infection while receiving itraconazole, as compared with seven who had a serious fungal infection while receiving placebo (P=0.10). No patient receiving itraconazole but five patients receiving placebo had a superficial fungal infection. No serious toxic effects were noted, although one patient had a rash and another had elevated results on liver-function tests; both of these effects resolved with the discontinuation of itraconazole. CONCLUSIONS: Itraconazole prophylaxis appears to be an effective and well-tolerated treatment that reduces the frequency of fungal infections in chronic granulomatous disease, but monitoring for long-term toxic effects is warranted. (+info)
(6/535) A rare case of pulmonary bronchogenic cyst associated with bronchial atresia in the same lobe.
A rare case of 49-year-old woman having pulmonary bronchogenic cyst associated with bronchial atresia in the same lobe was presented. The diagnosis was confirmed by aortography and operation specimen. Three-dimensional reconstructed images of computed tomography clearly demonstrated the defference between mucoid impaction of bronchial trees in the left S9 not communicating with hilar bronchus and the cyst in the left S10 oppressing surrounding vessels. (+info)
(7/535) A rare localization in right-sided endocarditis diagnosed by echocardiography: a case report.
BACKGROUND: Right-sided endocarditis occurs predominantly in intravenous drug users, patients with pacemakers or central venous lines and with congenital heart diseases. The vast majority of cases involve the tricuspid valve. CASE PRESENTATION: A case of a 31-year-old woman with intravenous drug abuse who had a right-sided vegetation attached to the muscular bundle of the right ventricle is presented. Transthoracic echocardiography revealed a vegetation in the right ventricular outflow tract. Transesophageal echocardiography clearly showed that the 1.8 cm vegetation was not adherent to the pulmonary valve but attached to a muscular bundle. CONCLUSIONS: Our case points to an unusual location of right-sided endocarditis in intravenous drug users. It confirms that TTE remains an easy and highly sensitive first-line examination for the diagnosis of right-sided endocarditis. (+info)
(8/535) Management of Gaucher disease in a post-communist transitional health care system: Croatian experience.
AIM: To evaluate the feasibility of financing the treatment of Gaucher disease with recombinant human imiglucerase in the Croatian health care system. METHODS: Treatment with enzyme replacement therapy of 5 patients with Gaucher disease was started on January 2001. In 4 patients the typical signs of Gaucher disease (organomegaly, bone changes, anemia, and thrombocytopenia) were documented at the time of diagnosis. One patient received bone marrow stem cell transplant as treatment for acute myeloid leukemia from a HLA-matching sibling with Gaucher disease. All patients underwent therapy with imiglucerase (Cerezyme) infusion every 14 days. The outcome and actual cost of the treatment were followed during 12 months. RESULTS: After 3 months of therapy, hemoglobin rose above low normal range in 2 patients. After 6 months, 3 patients had platelet count above 100x10(9)/L, and bone pain crises completely disappeared in patients with severe bone involvement. After 12 months, normal blood counts were restored in all patients. At the same time point, bone destruction remained unchanged in 3 patients and showed marked improvement in one. In agreement with the Ministry of Health, the Croatian Institute for Health Insurance restructured its funds and established a special "Fund for expensive drugs." This fund covers the treatment costs for patients with Gaucher disease (approximately 150,000 per patient per year) as well as the cost of treatment for patients with Fabry disease, AIDS, adenosine deaminase deficiency, multiple sclerosis, chronic myeloid leukemia, juvenile arthritis, and ovarian cancer. CONCLUSION: Collaboration of the institutions in a post-communist transition health care system can provide an effective model for financing expensive treatment for patients with rare diseases in a resource-poor health system. (+info)
lysosomal storage d
- AMO Pharma and Ranedis Pharmaceuticals inked a collaboration agreement to develop the latter's histone deacetylase (HDAC) inhibitor RND-001 for the potential treatment of specific lysosomal storage disorders and other rare neurodegenerative and genetic diseases. (genengnews.com)
- Now open for submissions, the Genzyme PAL Awards support non-profit organizations that work on behalf of patients living with lysosomal storage disorders (LSDs), a group of rare, inherited disorders that cause progressive and debilitating health problems. (businesswire.com)
- The firm says that in addition to demonstrating promising results in the NPC mouse model, research indicates that RND-001 can also impact gene expression implicated in other rare metabolic diseases, including Gaucher's disease, GM-1 gangliosidosis, and Krabbe's disease. (genengnews.com)
- We'll be joined by the National Organization of Rare Diseases and the Alport Syndrome Foundation as well as hundreds of organizations that represent individual orphan diseases. (go.com)
- We are a young patient organization with a big heart," said Kenneth Mah, Vice President, Rare Disease Society of Singapore. (businesswire.com)
- February 29, 2012 marks the fifth International Rare Disease Day, created by the patient organization EURORDIS and involving rare disease organizations globally. (businesswire.com)
- According to the National Organization for Rare Disorders , "rare disease" in the U.S. means affecting fewer than 200,000 people. (plos.org)
- CAMBRIDGE, Mass.--( BUSINESS WIRE )-- Genzyme , a Sanofi company (EURONEXT: SAN and NYSE: SNY), today announced its support of International Rare Disease Day with a series of events to celebrate and recognize the global rare disease community. (businesswire.com)
- For over 30 years, Genzyme has been proud to work with patient organizations to further access to care and treatment for patients with rare and special unmet medical needs. (businesswire.com)
- As part of its rare disease day activities, Genzyme is pleased to announce the launch of its second annual global grant program, the Genzyme Patient Advocacy Leadership Awards (PAL Awards). (businesswire.com)
- Due to last year's overwhelming response, which included ideas and programs to improve disease awareness, patient education, care and support from around the world, Genzyme has doubled this year's grant amount for a total of $100,000. (businesswire.com)
- We are proud that Genzyme recognized this and selected the Rare Disease Society of Singapore as one of the 11 groups around the world to receive a Genzyme PAL grant. (businesswire.com)
- Genzyme is an annual partner for International Rare Disease Day, and has organized events at Genzyme locations around the world that focus on this year's theme, "Solidarity. (businesswire.com)
- Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years. (businesswire.com)
- Because Alport is such a rare disease and the initial symptoms are common to many other conditions, it's often missed. (go.com)
- The preclinical data has provided strong validation of the potential for RND-001 to uniquely address central nervous system symptoms in NPC and other rare diseases," said William Claypool, CEO at Ranedis Pharmaceuticals. (genengnews.com)
- And if you think you may be showing symptoms of a tick-borne disease, contact your doctor immediately. (popularmechanics.com)
- According to Dr Engela Honey, a paediatrician at the department of genetics at the University of Pretoria, PWS is relatively rare compared to Down syndrome, for example, and the features in babies are also not as distinctive as Down syndrome. (iol.co.za)
- I had mixed feelings about the ice bucket challenge (henceforth "IBC") for ALS, noting how few people have read my posts here about the disease , compared to important posts like how Dan Brown screwed up genetics in his latest bestseller. (plos.org)
- ET, Dr. Richard Besser, ABC News' chief health and medical correspondent, will lead a tweet chat about identification, treatment and cure of rare disorders through programs of education, advocacy, research, and service. (go.com)
- LA JOLLA, Calif., May 10, 2013 - Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. (eurekalert.org)
- Herndon's full-time passion is trying to find a treatment for Batten disease to save her nine-year old son, Will, who is suffering from the rare, fatal, neuro-degenerative condition. (chron.com)
- Along with her husband, Herndon founded The Will Herndon Fund for Juvenile Batten Disease Research. (chron.com)
- Laura King Edwards is running races in all 50 states to raise awareness and funds for infantile Batten disease , which has robbed her 16-year-old sister Taylor of her sight, mobility, speech, and ability to eat. (plos.org)
- Prevalence of all forms of Batten disease is 2 to 4 of every 100,000 ). (plos.org)
- It's considered an orphan disease so it gets very little recognition, awareness or funding. (go.com)
- Having the first approved treatment option for my orphan disease gives me hope for remission. (newswire.ca)
- PARIS, Oct 23 (Reuters) - Swiss drugmaker Roche Holding AG would not rule out a move into treatments for rare diseases, Chief Executive Severin Schwan said on Wednesday. (reuters.com)
- They discovered that Alport is a rare genetic disorder that attacks the connective tissue of the kidneys. (go.com)
- His parents, who live in Gillitts in Durban, were told that he had Prader-Willi Syndrome (PWS), a rare genetic disorder that is characterised by the loss of function of specific genes. (iol.co.za)
- Erich Burger, of Baltimore, is recovering at home from a rare and often fatal disease. (washingtonpost.com)
- Instead, she found a rare and lethal parasite most clinicians have only seen in textbooks. (washingtonpost.com)
- To help support the disease researchers, Herndon joined The Blue Bird Circle Clinic of Neurology at Texas Children's Hospital as a Blue Bird volunteer in 2010. (chron.com)
- Founded in February 2015, AMO Pharma is acquiring a pipeline of therapeutic assets for treating rare and orphan diseases. (genengnews.com)
- New treatment approaches like RITUXAN provide therapeutic choices for physicians to use in fighting this disease and give patients a better chance for remission. (newswire.ca)
- With many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. (plos.org)
- This research was funded by The Rocket Fund at Sanford-Burnham and the U.S. National Institutes of Health-- National Institute of Diabetes and Digestive and Kidney Diseases grant R01DK55615 and National Human Genome Research Institute grant 1U54HG006493. (eurekalert.org)
- But Today.com reports that ticks can also spread a far deadlier disease-one that has no treatment. (popularmechanics.com)
- Canadian adults living with Granulomatosis with Polyangiitis (GPA, also known as Wegener's Granulomatosis) and Microscopic Polyangiitis (MPA), two severe, potentially life-threatening forms of vasculitis, now have a treatment option to help combat their disease. (newswire.ca)
- Health Canada's approval of RITUXAN, in combination with glucocorticoids, for the treatment of GPA and MPA is based on a National Institute of Allergies and Infectious Diseases-sponsored study known as RAVE (Rituxan in ANCA-Associated Vasculitis). (newswire.ca)
- Observed annually on the last day of February, Rare Disease Day seeks to call attention to rare diseases as an important public health issue, and to bring widespread recognition of increased need for education, research and treatment. (businesswire.com)
- There are nearly 7,000 identified rare diseases and many have no treatment available. (businesswire.com)
- Determined to find a treatment for children with the degenerative brain disease Niemann-Pick Type C, Steven Walkley, D.V.M., Ph.D., turned a serendipitous laboratory discovery into a successful national research collaboration with other academic institutions and the National Center for Advancing Translational Sciences, part of the NIH. (yu.edu)
- Not only is early diagnosis vital for PWS sufferers, but Honey stresses that the management of the disease makes all the difference, and those who have PWS need intervention and strict external controls, sometimes including padlocking access to food. (iol.co.za)
- It is often what went wrong that dictates the course of stories about exotic diseases or the challenge of diagnosis. (washingtonpost.com)
- RND-001 is a promising therapy supported by compelling early-stage research that gives Ranedis Pharmaceuticals and AMO Pharma an excellent opportunity to leverage known mechanisms in previously inaccessible rare diseases," added Michael Snape, Ph.D., AMO Pharma's CEO. (genengnews.com)
- As different as the two brothers are, Naquin said they share a rare, life-threatening disorder known as Alport Syndrome. (go.com)
- As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer. (plos.org)
- So I polled the rare disease families I know about the IBC, and boy did I strike a nerve! (plos.org)
- 5,6 As a result, some people go into remission, but for others, the disease remains chronic with recurring relapses. (newswire.ca)
- While each disease is rare, collectively they affect millions of people. (businesswire.com)
- People associated with other diseases became really upset, probably because they wished they had thought of it. (plos.org)
- That disease is the Powassan virus, which is transmitted by deer ticks just like Lyme disease. (popularmechanics.com)
- GPA and MPA are two severe forms of ANCA-Associated Vasculitis (AAV) - or vasculitis in short - a rare and potentially life-threatening disease in which the body's own immune system attacks healthy tissues and cells causing inflammation of the blood vessels. (newswire.ca)
- Partnerships such as the PAL Awards program underscore Genzyme's commitment to the rare disease community and demonstrate the importance of increased education and awareness of rare diseases to improve the quality of care of patients around the world," said Rogerio Vivaldi M.D., Genzyme's Head of Rare Diseases. (businesswire.com)
- Naquin said their disease was discovered this past summer after years of missed chances. (go.com)
- The current standard of care for orphan diseases such as vasculitis was developed in the early 1970s and has been the only option for many years, focused primarily on reducing discomfort and preventing serious complications. (newswire.ca)
- I was diagnosed with a rare form of vasculitis 20 years ago after I was experiencing trouble breathing, constant headaches and nosebleeds, and inflammation of my joints," explains Jacques Ducharme , a GPA patient. (newswire.ca)
- A sharp-eyed hematology technician discovered when she looked in her microscope that he was suffering from a disease so rare in the United States that it has been seen only 40 times in the past 50 years. (washingtonpost.com)
- Luckily, Powassan virus is extremely rare. (popularmechanics.com)
- These efforts led to an NIH Phase 1 clinical trial testing cyclodextrin as a therapy for children with this disease. (yu.edu)
- The disease is one of the few "universally lethal" infections: It always kills unless it is treated, and it kills quickly. (washingtonpost.com)
- This post chronicled Max's brother Alex's efforts to fight brain disease. (plos.org)
- Many rare conditions are single-gene diseases. (plos.org)
- The test is the first in a line of tests that the two companies plan to launch as part of a previously announced strategic partnership to develop and commercialize infectious disease testing using metagenomics. (genomeweb.com)
- my 2 1/2 yr old has a rare form of Lypodystropy ( Diagnosed just after turning 2). (medhelp.org)
- For that reason, standard exome sequencing initially missed their mutations, highlighting the technique's diagnostic limitations in some rare cases. (eurekalert.org)
- Only 75 cases have been reported to the Centers for Disease Control and Prevention over the past decade, clustered in the Northeast and the Midwest. (popularmechanics.com)
- RND-001 is a novel HDAC inhibitor formulation that Ranedis claims demonstrates enhanced brain exposure and has shown potential efficacy in a mouse model of Neimann-Pick type C (NPC) disease. (genengnews.com)
- Perlstein has made the NGLY1 disorder and Niemann-Pick type C disease his lab's first priorities. (xconomy.com)
- Max Randell, left, has Canavan disease. (plos.org)
- This study was one surprise after another," said Hudson Freeze, Ph.D., director of Sanford-Burnham's Genetic Disease Program and senior author of the study. (eurekalert.org)
- The study showed that RITUXAN was as effective as cyclophosphamide (CYC), part of the current standard of care, in inducing disease remission at six months in patients with severe AAV (vasculitis), however, with fewer side effects. (newswire.ca)
- Based on family history, Naquin was almost certainly the carrier of the disease. (go.com)
- The Wilsey family, legendary in San Francisco society circles and the subject of a best-selling memoir , is also keen on cures for rare diseases. (xconomy.com)
- not so a family with Huntington disease. (plos.org)
- TORONTO , Jan. 25, 2012 /CNW/ - Imagine what it would be like to live with a rare, life-threatening disease. (newswire.ca)
- Lyme disease needs a full 24 hours to do that. (popularmechanics.com)
- Orphan diseases of this nature are extremely difficult for patients to accept and for physicians to treat. (newswire.ca)
- He believes disease-causing genes can be found across species, and those similarities can make low-cost organisms-yeast, fruit flies, nematodes, and zebra fish-great ways to test drugs. (xconomy.com)
- Explify Respiratory detects more than 200 common and rare bacterial, fungal, and viral respiratory pathogens with a single test. (genomeweb.com)
- Ranedis was established in 2014 to develop technology, licensed from the University of Notre Dame, for treating rare and neglected diseases. (genengnews.com)