Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Rare disease”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed2005

Von Hippel-Lindau disease--a rare disease important to recognize.

INTRODUCTION: Von Hippel-Lindau disease (VHL) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the VHL tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. Patients are at risk of developing cerebellar, spinal and retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, pancreatic and renal cysts, and epididymal cystadenoma. The most common causes of death from VHL are metastases from renal cell carcinoma and neurological complications from cerebellar hemangioblastomas. Molecular analysis of the VHL gene is clinically available and indicated in patients with known or suspected VHL. CASE REPORT: A 19-year-old woman was surgically treated for cerebellar hemangioblastoma in 1998 and for renal cell carcinoma of the right side in 2002. Familial VHL was subsequently diagnosed as the patient's mother was found to be affected with bilateral polycystic kidney disease with chronic renal failure as well as hemangioblastoma of the retina and medulla oblongata. The mother underwent surgery for bilateral renal cell carcinoma in 2003. CONCLUSION: The multitude of VHL-associated tumors and intra-familial variability in clinical expressivity render early diagnosis of VHL difficult. We therefore shortly illustrate the spectrum of clinical phenotypes and the VHL screening and surveillance guidelines.

Adult↗
PubMed2005

Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center.

The study of rare human diseases has been instrumental in the development of our understanding of human DNA repair processes. This meeting focused on three disorders of DNA repair and transcription: Cockayne syndrome (CS), xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). For the first time, clinicians, basic researchers and patient advocates met together, shared information and discussed their needs and goals. Cancer susceptibility varies greatly from more than 1000-fold increase in XP to normal in CS and TTD. Some patients with CS, XP or TTD have progressive neurological degeneration. The clinical diagnosis of these disorders involves evaluation by several specialties including neurology, dermatology, radiology, pathology and genetics. There is a pressing need for a laboratory to perform clinically certified diagnostic testing in the US. These diseases are quite complex and overlap syndromes have been found. Each can arise from mutations in more than one gene and conversely, different mutations in one gene can give rise to more than one clinical disease. Some of the proteins that are defective in these disorders function in both DNA repair and transcription. They respond to UV and oxidative DNA damage and involve varied functions such as DNA unwinding, transcription initiation, protein ubiquitination, nuclear receptor phosphorylation, promoter release and myc homeostasis. Mouse models offer the possibility of exploring the effects of complex interactions among these genes. These issues were all discussed at a recent workshop.

Aging↗
PubMed2006

Castleman's disease -- a rare disease of lymph nodes.

Castleman's disease is a rare disorder of unknown etiology and different clinical manifestations, occurring in young adults (usually prior to age 30 years). In this case report we present one such case who was a 16 years old male with abdominal pain, weight loss, cervical lymph adenopathy and hepatosplenomegaly. Lymph node biopsy revealed hyaline-vascular type of Castleman's disease. He was put on chemotherapy but was lost to follow-up.

Adolescent↗
PubMed1993

[Ménétrier disease--a rare disease of the stomach].

The present reports on a 51-year-old patient who presented with weight loss, anaemia, hypoalbuminaemia and ankle oedema, and was referred for laparotomy by a radiologist on the grounds of suspected carcinoma of the stomach suggested by an upper gastrointestinal x-ray series. Surgery revealed excessively thickened rugae with gyrus-like, tortuous surface epithelium folds (histologically Ménétrier's disease). A gastrectomy was performed, and the patient has been symptom-free and active ever since. In addition, the author presents a review of the literature published to date describing case reports of patients with Ménétrier's disease. Ménétrier's disease is a benign condition of the gastric mucosa in which gastric loss of albumin has been shown to be responsible for hypoalbuminaemia. The diagnostic procedure of choice is gastroscopy because upper gastrointestinal x-ray series cannot distinguish between carcinoma of the stomach with certainty. Since this is a chronic disease that does not respond to medication, treatment of choice today is (partial) gastrectomy dictated by the extent and severity of the findings.

Diagnosis, Differential↗
PubMed2003

Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed.

Articles in the literature on alpha-1 antitrypsin (AAT) deficiency have been interpreted as indicating that AAT deficiency is a rare disease that affects mainly Caucasians (whites) from northern Europe. In a recent publication on the worldwide racial and ethnic distribution of AAT deficiency, new data were presented demonstrating that it is also found in various populations of African blacks; Arabs and Jews in the Middle East; and Central, Far East, and Southeast Asians, as well as whites in Australia, Europe, New Zealand, and North America. The new data on the prevalence of AAT deficiency in other major racial groups worldwide will affect the standards for the diagnosis of AAT deficiency by the medical community, with the realization that is not a rare disease of whites in northern Europe and immigrants from these countries in the New World. In a total population of 4.4 billion in the 58 countries surveyed, there are at least 116 million carriers (those with Pi phenotypes PiMS and PiMZ) and 3.4 million with deficiency allele combinations (phenotypes PiSS, PiSZ, and PiZZ) for the two most prevalent deficiency alleles PiS and PiZ; therefore, the new data suggest that AAT deficiency may be one of the most common serious single-locus genetic diseases in the world. Particularly important is the unique susceptibility of AAT-deficient individuals to exposure to chemical and particulate environmental agents. Such exposures are known to result in both lung and liver disease as well as other adverse health effects.

Comorbidity↗
PubMed1994

Rare disease surveillance.

Rare diseases in children account for disproportionate morbidity and mortality and are particularly demanding of both families and health resources. Surveillance may provide data on their epidemiology, aetiology, management and outcome and on the support requirements of affected children. Existing methods for rare disease surveillance include mandatory and voluntary notification schemes, which may be active or passive, hospital discharge databases and death certification data. The recent establishment of the Australian Paediatric Surveillance Unit has facilitated active, prospective, national case ascertainment by voluntary notification of selected rare conditions. Information obtained should enable estimation of incidence rates, evaluation of prevention and management strategies, extend data collected by existing methods and help estimate future health needs.

Australia↗
PubMed1989

Information service on treatment for rare diseases: the National Information Center for Orphan Drugs and Rare Diseases.

The amount of information available on rare diseases and the drug products used to treat them increases every year. The Orphan Drug Act, enacted in 1983, not only stimulated the development of orphan-drug products but also empowered the Food and Drug Administration to assist in the dissemination of information on these products to all health-care professionals. As the health-care professionals legally responsible for the dispensing of all drugs, pharmacists especially must be as informed as possible about any medication dispensed by them to their patients. The growing list of orphan-drug products makes this an almost impossible task. To assist in accessing this information, a new resource has been created.

Drug Industry↗
PubMed1990

The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases.

Twelve rare diseases known to cause CNS pathology were found in 26 (11%) of 233 autistic probands identified during a recent epidemiologic survey of Utah. These 26 probands had significantly lower mean IQs than the remaining patients (43 versus 60) but similar sex distribution and prevalence of abnormal EEGs and seizures. The rarity and diversity of these 12 diseases make it highly unlikely that they randomly occurred with autism. Their presence in this epidemiologic survey is the most compelling evidence to date to support the hypothesis that different diseases producing different types of CNS pathology can play an etiologic role in autism.

Adult↗
PubMedDate not supplied

[Disease registries in the epidemiological researching of rare diseases in Spain].

BACKGROUND: The use of tools such as disease registries poses a problem in the case of rare diseases. This study is aimed at describing the current situation concerning rare disease registries in Spain. METHODS: The information provided by two Spanish health registries directories prepared by the Spanish Health Assessment Technologies Agencies are employed, a descriptive cross-sectional study being conducted. The registries identified in these directories has been classified as: (1) "Specific rare diseases" (2) "Unspecific but with information on rare disease and (3) "Non-informative regarding rare diseases". RESULTS: The 2000 directory listed 82 registries, 15.8% of which were classified under Group 1, whilst a total of 107 registries, 16.8% in Group 1, were identified in the 2005 review. The main health registries in Group 2, by topic, were: cancer, mortality, psychiatry and nephrology. No general rare disease registries were found in the directories. CONCLUSIONS: Although few in number, health registries do exist in Spain including information on rare diseases. Areas have been identified by topic lacking registries and also information systems or registries unidentified in the sources used. Continuing efforts must be made to improve the information available on rare diseases.

Cross-Sectional Studies↗