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.
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)