[Tolerance of pneumoencephalography in intracranial tumors; experience with pneumoencephalography at the neurological clinic during 1942-1950].
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Brain↗
SEARCH · PubMed Health
Results for “clinical genetics database”
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
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The role of genetics in pediatric endocrinology.
Information on the genetics of endocrine disorders and genetic testing is increasing rapidly. This makes it important for endocrinologists to be able to efficiently search for clinically relevant information and to access specialized laboratory testing and genetics professionals to assist with diagnosis, education, counseling and management of patients and families. Because new findings are reported in many different publications, current comprehensive information on clinical and laboratory findings of and genetic testing for endocrine disorders cannot be found in any single journal or text. Electronic databases provide rapid access to such information. Endocrinologists need to develop a working understanding of these databases. This review examines principles of inheritance, types of genetic variation and the genetic aspects of selected endocrine disorders. It demonstrates how information on genetics and genetic testing can be obtained and discusses how endocrinologists and geneticists can work together to strengthen the clinical applications of genetics to pediatric endocrinology.
Child↗
GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing.
GeneClinics is an online genetic information resource consisting of descriptions of specific inherited disorders ("disease profiles") as well as information on the role of genetic testing in the diagnosis, management, and genetic counseling of patients with these inherited conditions. GeneClinics is intended to promote the use of genetic services in medical care and personal decision making by providing health care practitioners and patients with information on genetic testing for specific inherited disorders. GeneClinics is implemented as an object-oriented database containing a combination of data and semistructured text that is rendered as HTML for publishing a given "disease profile" on the Web. Content is acquired from authors via templates, converted to an XML document reflecting the underlying database schema (with tagging of embedded data), and then loaded into the database and subjected to peer review. The initial implementation of a production system and the first phase of population of the GeneClinics database content are complete. Further expansion of the content to cover more disease, significant scaling up of rate of content creation, and evaluation redesign are under way. The ultimate goal is to have an entry in GeneClinics for each entry in the GeneTests directory of medical genetics laboratories-that is, for each disease for which clinical genetic testing is available.
Causality↗
Prevalence of mitral valve prolapse in Stickler syndrome.
The prevalence of mitral valve prolapse in Stickler syndrome has been reported to be much higher than in the general population. As a result, it has been recommended that all patients with Stickler syndrome undergo routine echocardiography and have antibiotic prophylaxis prior to surgery. The purpose of this study was to evaluate the prevalence of mitral valve prolapse in a large cohort of UK patients with Stickler syndrome in whom the clinical diagnosis has been confirmed by molecular genetic analysis. Probands and pedigrees were identified from the Vitreoretinal Service database according to previously published criteria. Ophthalmic, skeletal, audiometric, and orofacial features were assessed. Affected individuals underwent a full cardiological examination including auscultation and two-dimensional echocardiography. Mutation analysis of the COL2A1 and COL11A1 genes was carried out. Seventy-eight patients from 25 pedigrees were studied. Mutation analysis confirmed the clinical diagnosis in every pedigree. No patient was found to have clinical evidence of cardiovascular disease and no patient had significant mitral or other valvular prolapse on echocardiography. These data from a large cohort of UK patients with proven Stickler syndrome do not suggest an increased incidence of mitral valve prolapse over and above that found in the general population. Routine echocardiography screening and use of preoperative antibiotics are unnecessary and should be reserved for those individual cases where there is clear clinical indication.
Cohort Studies↗
Developments of geriatric autopsy database and Internet-based database of Japanese single nucleotide polymorphisms for geriatric research (JG-SNP).
To facilitate geriatric research on the roles of genetic polymorphisms of candidate genes, two databases were developed based on data obtained from autopsy examinations of elderly subjects: the geriatric autopsy database (GEAD) and the Japanese single nucleotide polymorphisms (SNP) database for geriatric research (JG-SNP) which is accessible on the Internet (http://www.tmgh.metro.tokyo.jp/jg-snp/english/E_top.html). The data for the GEAD were derived from 1074 consecutive autopsy cases (565 male and 509 female cases) with an average age of 80 years. The GEAD was installed on a stand-alone Windows 2000 server using Oracle 8i as the database application. The GEAD contains clinical diagnoses of 26 geriatric diseases, histories of smoking and alcohol consumption, pathological findings (720 items), severity of atherosclerosis, genetic polymorphism data, etc. On the JG-SNP website, case distribution corresponding to a specified SNP or disease can be searched or downloaded. Although there are several Internet-based SNP databases such as dbSNP, no databases are available at present on the web that contain both SNP data and phenotypic data. As autopsy studies can provide large amounts of accurate medical information, including the presence of undiagnosed diseases such as latent cancers, the GEAD is a unique and excellent database for research on genetic polymorphisms.
Aged↗
[Regulation of child development: genetic aspects].
Since antiquity numerous attempts have been made to evaluate a relative role of heredity and the environment in human development. In the last quarter of the 19th century Francis Galton formulated this problem as a dilemma of "Nature or Nurture"? Actually, human development is the fulfillment of a genetic programme inherited by an individual from his/her parents under quite definite environmental conditions. So, Galton's query is rather to be reformulated into a statement--"Nature or Nurture". The genetic programme of an individual is established during fertilization when the haploid nuclei of an egg-cell and sperm are united to form a diploid nucleus of the zygote. During subsequent proliferation and differentiation, the zygote progressively develops into an embryo, fetus, neonate and so on. Little known about genetic factors regulating human embryogenesis and fetogenesis. Some important inferences were made when it was found that many regulatory genes and gene families comprehensively investigated in Drosophila are close homologues to respective human genes. Among such genes are those coding for transcription factors presumably taking part in cascade regulation of embryogenesis. Some mutations of these genes were found to be involved in the origin of certain malformations in humans (Sonic Hedgehog, HOXD13 etc.). Within a wide spectrum of human malformation syndromes, a considerable part is comprised by chromosomal disorders, especially those related to partial aneusomies (some 2,000 forms). Clinical manifestations of such chromosomal syndromes are highly variable, which calls for application of computer-assisted devices for their classification and diagnosis. In addition to a number of well elaborated English- and French-language databases, Russian-language computer banks of cytogenetic and clinical data aimed at practical use in genetic health care, teaching, and research are already available; among them there are "SYNGEN", "CHRODYS", "CHRODYS-PHOTO" elaborated in the Research Center for Medical Genetics of the Russian Academy of Medical Sciences, Moscow.
Animals↗
An online database for brain disease research.
BACKGROUND: The Stanley Medical Research Institute online genomics database (SMRIDB) is a comprehensive web-based system for understanding the genetic effects of human brain disease (i.e. bipolar, schizophrenia, and depression). This database contains fully annotated clinical metadata and gene expression patterns generated within 12 controlled studies across 6 different microarray platforms. DESCRIPTION: A thorough collection of gene expression summaries are provided, inclusive of patient demographics, disease subclasses, regulated biological pathways, and functional classifications. CONCLUSION: The combination of database content, structure, and query speed offers researchers an efficient tool for data mining of brain disease complete with information such as: cross-platform comparisons, biomarkers elucidation for target discovery, and lifestyle/demographic associations to brain diseases.
Bipolar Disorder↗
Multilocus sequence typing of hospital-associated Enterococcus faecium from Brazil reveals their unique evolutionary history.
We studied the genetic relationships between vancomycin-susceptible (n = 11) and -resistant Enterococcus faecium (VRE, n = 20) recovered from Brazil using a multilocus sequence typing (MLST) scheme. Grouping of allelic profiles revealed six clusters of related sequence types (STs) that differ in no more than two of the seven alleles. Of these, one cluster harbored 16 of the 20 isolates recovered during the first VRE outbreak in Brazil. The ampicillin and gentamicin resistance profiles were stable in the isolates that clustered within the groups I-III. Comparison with the allelic profiles of 139 E. faecium from different geographical regions and origins found in the international database http://www.mlst.net revealed that the Brazilian outbreak clone did not cluster in the previously named complex-17. This genetic complex contains hospital epidemic and clinical isolates recovered from different countries and continents. Twenty two of the 31 Brazilian isolates, including the VRE outbreak clone, clustered apart from the E. faecium isolates from the database, suggesting that these Brazilian isolates have a distinct evolutionary history.
Alleles↗
Predictive genetic testing: from basic research to clinical practice.
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Advisory Committees↗
Gene therapy for rare diseases.
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Clinical Trials as Topic↗
Hereditary multiple exostoses: one center's experience and review of etiology.
Hereditary multiple exostosis is a genetic disorder characterized by multiple osteochondromas that can cause pain, deformity, and potential malignant degeneration. Linkage analysis has identified a family of EXT genes which, if mutated, can lose heterozygosity and potentially cause osteochondromas. A database was established of 43 patients with hereditary multiple exostoses treated at a tertiary pediatric healthcare system. Twenty patients had a known family history of the disorder. All patients were diagnosed between birth and 13 years. Symptoms or deformity were observed in the forearms of 29 patients, the knees of 37 patients, and the ankles of 28 patients. Valgus knee deformity related to hereditary multiple exostoses, previously reported to be attributable to proximal tibial changes alone, resulted from proximal tibial or distal femoral valgus deformities in this series. Twenty-seven patients required between one and five surgeries to address their lesions. No patient had malignant degeneration of an osteochondroma; however, three patients had first-degree relatives with transformation of an osteochondroma to chondrosarcoma. This database now may be a resource for additional analysis. By correlating specific genetic mutations with clinical manifestations, it may be possible to stratify patients into subtypes of hereditary multiple exostoses and identify genetic markers associated with malignant degeneration.
Adolescent↗
Pervasive developmental disorders: a 10-year review.
OBJECTIVE: To summarize recent advances about the nature, diagnosis, and treatment of pervasive developmental disorders. METHOD: Review of Medline databases, books, and book chapters published between July 1989 and November 1999. RESULTS: Clinical and genetic studies support expansion of the concept of autism to include a broader spectrum of social communication handicaps. The prevalence of autism is approximately 1 per 2,000; the prevalence of autism and Asperger's disorder together is 1 per 1,000. The Checklist for Autism in Toddlers is a useful screening instrument for 18-month-old children; the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule are instruments of choice for research. Although twin and family studies clearly support genetic factors as important in autism, linkage analysis studies indicate that many genes may be involved. There is no one treatment of choice. Social-pragmatic approaches, augmented by individualized strategies and social coaching, may be best for teaching social communication skills. Pharmacological interventions have a limited role in improving social communication, but selective serotonin reuptake inhibitors and atypical neuroleptic medications may help ameliorate aggression, hyperactivity, and other secondary problems. CONCLUSIONS: Private and government agencies must continue to support basic and applied research.
Autistic Disorder↗
Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers.
The objective of this study is to review ethical and clinical guidelines and position papers concerning the presymptomatic and predictive genetic testing of minors. The databases Medline, Philosopher's Index, Biological Abstracts, Web of Science and Google Scholar were searched using keywords relating to the presymptomatic and predictive testing of children. We also searched the websites of the national bioethics committees indexed on the websites of World Health Organization (WHO) and the German Reference Centre for Ethics in the Life Sciences, the websites of the Human Genetics Societies of various nations indexed on the website of the International Federation of Human Genetics Societies and related links and the national medical associations indexed on the website of the World Medical Association. We retrieved 27 different papers dealing with guidelines or position papers that fulfilled our search criteria. They encompassed the period 1991-2005 and originated from 31 different organizations. The main justification for presymptomatic and predictive genetic testing was the direct benefit to the minor through either medical intervention or preventive measures. If there were no urgent medical reasons, all guidelines recommend postponing testing until the child could consent to testing as a competent adolescent or as an adult. Ambiguity existed for childhood-onset disorders for which preventive or therapeutic measures are not available and for the timing of testing for childhood-onset disorders. Although the guidelines covering presymptomatic and predictive genetic testing of minors agree strongly that medical benefit is the main justification for testing, a lack of consensus remains in the case of childhood-onset disorders for which preventive or therapeutic measures are not available.
Age Factors↗
Copy number variants and pharmacogenomics.
The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number variants and speculate on their implications for pathophysiology and pharmacogenomics.
Animals↗
Information overload--new technologies, can we store the data?
Computerization within newborn screening programs is a developing issue. To date two basic approaches to data storage have been used: (1) a storage system for babies diagnosed with a disorder, (2) a comprehensive system with long-term details for all patient samples, tests performed, test results and interpretations. It usually provides efficient real-time reports for various clinical and quality control requirements and easy access to an inborn errors registry. Within the last decade there have been two new technologies adapted to routine use in newborn screening laboratories: (1) tandem mass spectrometry for selected amino acids and acyl carnitine, and (2) DNA mutational analysis of PCR products. Both technologies present data storage challenges. Both are capable of providing large files of information for a sample. Consideration must be given to how these data are stored, whether all results including a graphical representation or DNA sequence data are kept or whether only final results for specific analytes are stored. Many new analytical technologies can only be incorporated into routine programs as a result of advances in hardware and software allowing better access to, and storage of, data.
Australia↗
[The informatics of human genome and traditional Chinese medicine].
Guided by the theory and methodology of yin-yang set derived from Changing Book and Medicine Canon, and using genetics as a bridge, we have tried to bring together the ancient functional systematology and modern structural one as well as Eastern and Western medicine, thereby promoting the modernization of traditional Chinese medicine (TCM) in theory and in clinical practice. Herein, we used virtual technology to transform the genetic information in OMIM of NCBI (National Center for Biotechnology Information of USA, http://www.ncbi.nlm.nih.gov ) into a secondary database in the form of webpages. There are sixteen kinds of the database named gene morbidity ones as followings as: the nature of gene, the profile of common phenotype, a interaction of endogenous, the disease of a organ or a viscera pathogenesis phenomenon, TCM, the sign of diagnosis of western medicine, the gene response to environment, syndrome, disease, nerve and -endocrine, tumor and cancer, psychology and behavior, morbidity, endo-factor of molecular information, expression, the interaction between endogenous and exogenous in which there is 4 711 words, files. The advantages of the database are its aptness for using human fuzzy intelligence to recognize things, suitability to uncovering the noumenon (yinyang) nature of an object and applicability to clinical use.
Computational Biology↗
[Inconstant skeletal elements and their clinical importance].
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Bone Diseases↗
Fluvastatin in severe hypercholesterolemia: analysis of a clinical trial database.
Many patients with severe primary hypercholesterolemia--low density lipoprotein cholesterol (LDL-C) > 240 mg/dL--have heterozygous familial hypercholesterolemia. In such familial hypercholesterolemic patients, the lipid-lowering efficacy of fluvastatin is related to genetic factors, and it is of interest whether the response to treatment differs from that in patients with more moderate hypercholesterolemia. Thus an exploratory analysis of randomized, controlled clinical trials and their open-label extensions (12-78 weeks), conducted worldwide with fluvastatin > or = 20 mg/day (n = 1810) and placebo (n = 783), assessed whether, apart from the potential differences between familial hypercholesterolemic and nonfamilial hypercholesterolemic patients, the response to 40 mg of fluvastatin is influenced by baseline plasma lipid levels in relation to disease severity. Entry criteria included LDL-C > or = 190 mg/dL with < or = 1 risk factor and no coronary artery disease, or > or = 160 mg/dL with > 1 risk factor or definite coronary artery disease. Of these patients, 591 (33%) given fluvastatin (20-40 mg/day) and 187 (24%) given placebo had severe hypercholesterolemia with baseline LDL-C > 240 mg/dL. In controlled studies, the mean +/- SD duration of exposure was 21.1 +/- 16.1 and 19.4 +/- 15.5 weeks for fluvastatin and placebo, respectively, whereas long-term efficacy was assessed after 55.3 +/- 21.7 weeks (fluvastatin) and 21.1 +/- 12.3 weeks (fluvastatin + cholestyramine, after previous monotherapy). In summary, fluvastatin at 40 mg/day lowered LDL-C by 25-26% from baseline in controlled studies (n = 622), and by 27% in long-term studies (32-33% with fluvastatin + cholestyramine; n = 386), irrespective of severity of cholesterolemia.(ABSTRACT TRUNCATED AT 250 WORDS)
Aged↗