[Neurological syndromes following serotherapy; clinical aspects].
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Databases, Genetic↗
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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A multi-investigator/institutional DNA bank for AIDS-related human genetic studies: AACTG Protocol A5128.
BACKGROUND: An understanding of the relationships among allelic variability and clinical outcomes will be critical if HIV-infected patients are to benefit from the explosion in knowledge in human genomics. Human DNA banks must allow future analyses while addressing confidentiality, ethical, and regulatory issues. METHOD: A multidisciplinary group of clinical investigators, ethicists, data managers, regulatory specialists, and community representatives developed Adult AIDS Clinical Trials Group (AACTG) Protocol A5128. Participants in past or present AACTG clinical trials may contribute DNA. Extraction from whole blood is performed at a central laboratory, where participants' unique identifiers are replaced by randomly assigned identifiers prior to DNA storage. To identify genotype-phenotype relationships, genetic assay results can be temporarily linked to clinical trials data. RESULTS: Institutional review boards in 21 states and Puerto Rico have approved Protocol A5128, and accrual is ongoing. Of the first 4,247 enrollees, 82% are male, 56% are white, 26% are African American, and 15% are Hispanic. Because participants may participate in multiple AACTG protocols, these represent 11,424 cases in 324 different AACTG studies and substudies, with at least 100 participants from 24 different studies. Studies exploring specific genotype-phenotype relationships are underway. CONCLUSION: The AACTG DNA bank will be an important resource for genomic discovery relevant to HIV therapy.
Acquired Immunodeficiency Syndrome↗
National Neurofibromatosis Foundation International Database.
The National Neurofibromatosis Foundation International Database is a system for collecting comprehensive information on the clinical manifestations and natural history of neurofibromatosis. Data are entered into personal computers at participating centres and are pooled at the Central Database and coordinating centre in Vancouver, Canada. The system includes special mechanisms to assure consistency among centres and to maintain patient confidentiality. The database is designed to foster collaborative clinical and molecular genetic research in many aspects of neurofibromatosis.
Canada↗
Biobanks. Population databases boom, from Iceland to the U.S.
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Access to Information↗
[ON THE DIAGNOSTIC SIGNIFICANCE OF THE PERMANGANATE REDUCTION REACTION IN NEUROLOGICAL PRACTICE].
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Cerebrospinal Fluid↗
[Mental retardation].
OBJECTIVE: This paper describes recent advances in the neurobiology of mental retardation, emphasizing new diagnostic resources provided by cytogenetics, molecular testing, and neuroimaging. SOURCES OF DATA: MEDLINE (January 2000 through October 2003), using the following key words: mental retardation, developmental disability, child, and adolescent. Search of the Pediatrics and New England Journal of Medicine websites using the key word mental retardation. The Online Mendelian Inheritance in Man (OMIM) database was searched for information on clinical genetics. SUMMARY OF THE FINDINGS: In October 2003, the number of genetic syndromes associated with mental retardation reached 1,149. Considering the genetic or environmental and congenital or acquired causes of mental retardation, current diagnostic investigation is able to detect the etiology in 50 to 70% of cases. CONCLUSION: Diagnostic evaluation should follow a stepwise approach in order to make rational use of the expensive tools of cytogenetics, molecular biology, and neuroimaging.
Adolescent↗
Cystic fibrosis screening: lessons learned from the first 320,000 patients.
PURPOSE: To examine the data from > 335,000 Cystic fibrosis (CF) tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling. METHODS: A proprietary database containing 335,204 consecutive CF DNA tests and 445 CF prenatal diagnostic tests was queried. Clinical information was obtained for prenatal and selected nonprenatal cases by telephone contact with physician offices. RESULTS: The mutation 1078delT was found in much lower frequency than expected with rates of only 1:55,867 tests and 0.06% of CF mutations. This level is below the threshold set by the American College of Medical Genetics. Homozygosity was observed for 2789+5G>A in a 29-year-old women and compound heterozygosity with delta F408 in a 40-year-old woman with isolated chronic sinusitis. Many patients elected prenatal diagnosis when not at a 1:4 risk due to echogenic bowel or IVS-8 5T issues. CONCLUSIONS: With the exception of 1078delT, all CF mutations in the ACMG panel were detected with a frequency of > 0.1% of CF chromosomes. When ACMG guidelines are strictly adhered to, population-based CF carrier screening will accurately identify couples at risk for having children with CF.
Cystic Fibrosis↗
The Italian XLMR bank: a clinical and molecular database.
Mental retardation (MR) is a nonprogressive condition characterized by a significant impairment of intellectual capabilities with deficit of cognitive and adaptive functioning and onset before 18 years. Mental retardation occurs in about 2 to 3% of the general population and it is estimated that 25 to 35% of the cases may be due to genetic causes. Among these "genetic" MR, 25 to 30% are probably due to mutations in a gene on the X chromosome (X-linked mental retardation, XLMR). Given the genetic heterogeneity of XLMR, the availability of a considerable number of patients with accurate phenotypic classification is a crucial factor for research. The X-linked Mental Retardation Italian Network, which has been active since 2003, has collected detailed clinical information and biological samples from a vast number of MR patients. Collected samples and clinical information are inserted within the XLMR bank, a comprehensive molecular and clinical web-based database available at the address http://xlmr.unisi.it. The database is organized in three distinct parts. Part I and II contain several electronic schedules to register information on the family, the phenotypic description, the photographs, and a 20 sec movie of the patient. Part III allows the registration of molecular analyses performed on each case; samples and clinical data are usable via password-restricted access. Clinical and molecular centers interested in joining the network may request a password by simply contacting the Medical Genetics of the University of Siena. The XLMR bank is an innovative biological database that allows the collection of molecular and clinical data, combines descriptive and iconographic resources, and represents a fundamental tool for researchers in the field of mental retardation.
Computer Security↗
Alzheimer's subtypes A supervised, unsupervised, multimodal, multilayered embedded recursive (SUMMER) AI study.
Since Alzheimer's disease (AD) is a heterogeneous disease, different subtypes may have distinct biological, genetic, and clinical characteristics, requiring tailored interventions. While several proposed subtypes of AD exist, there is still no clear consensus on a definitive classification. By leveraging complementary AI approaches, including supervised and unsupervised learning, within a recursive pipeline (SUMMER) that integrates multimodal datasets encompassing MRI measurements, phenotypes, and genetic data, our goal was to generate robust scientific evidence for identifying AD subtypes. Data was downloaded from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database and included neuroimaging data (MRI), genetics (SNPs), clinical diagnosis, and demographics. 1133 European American participants' images, aged 55-95, were included in this study. The analysis was multi-fold, where the first step involved applying an unsupervised application to a subset of the MRI sample (AD + cognitively normal (CN) aged matched groups, 100 men aged 68-85 years, and 76 women aged 68-85 years). The MRI brain gray matter was segmented into 44 regions of interest (ROIs) according to a standard atlas, and 618 features were extracted, including ROI voxel intensity measurements such as minimum, maximum, and histogram variables. Results identified a cluster of subtype AD men and a cluster of subtype AD women that were distinct from the rest of their respective samples. In the next step, the integrity of the identified subtype AD clusters was investigated using the XGBoost supervised machine learning application with genetic features (SNPs, N=36,724) and labels: the identified subtype AD cluster vs. the rest of the sample, stratified by sex. A significant AD subtype men model (accuracy=0.85, F1=0.72, AUC=0.83) and a significant women AD subtype model (accuracy=0.81, F1=0.81, AUC=0.81) were built, confirming the homogeneity of the isolated AD subtype clusters. Discriminative biomarkers were extracted from the significant models, including selected ROIs and SNPs. Finally, the subtype models were tested on an unseen subset of ADNI data. The genetic-based models identified clusters of AD subtype participants consisting of 34% of the men AD group and 47% of the women AD group. Phenotypic analysis indicates that lower body weight was associated with the women's AD subtype. Complex diseases like AD demand a sophisticated, multimodal approach for precise diagnosis. Effectively identifying disease subtypes enhances the potential for personalized treatment, ultimately improving patient outcomes.
Journal Article↗
The genome-enabled electronic medical record.
The integration of patient-specific genomic information into the electronic medical record (EMR) will create many opportunities to improve patient care. Key to the successful incorporation of genomic information into the EMR will be the development of laboratory information systems capable of appropriately formatting molecular diagnostic and cytogenetic findings in the EMR. Due to the lack of granular genomics-related content in existing medical vocabularies, the adoption of new standards for describing clinically significant genomic information will be an important step toward recognizing the genome-enabled EMR. Appropriate capture of patient-specific genomic results in the EMR will generate new opportunities to utilize this information in clinical decision support, including automated response to pharmacogenomic-based risks.
Computational Biology↗
[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].
OBJECTIVE: To investigate the clinical characteristics of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) due to variants of DYNC2I1 gene. METHODS: A fetus identified to have short ribs, short long bones, and narrow thorax at 26+1 weeks of gestation at the Women and Children's Hospital of Ningbo University in September 2024 was selected as study subject. The fetus underwent termination of pregnancy at 35+5 weeks of gestation. Clinical data of the fetus were retrospectively collected. Whole exome sequencing (WES) was carried out on fetal tissue, and candidate variants were validated by Sanger sequencing. Difference between the wild type and variant DYNC2I1 proteins was analyzed using AlphaFold v3.0.1 and PyMOL v2.5.6 software. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Using keywords such as "DYNC2I1 gene", previous literature on patients due to biallelic DYNC2I1 gene variants were retrieved from the PubMed databases, CNKI, and Wanfang Data Knowledge Service Platform, and the genetic variant and clinical phenotypes of patients were analyzed. The literature retrieval time was set from the establishment of database to December 31, 2025. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-094). RESULTS: Prenatal ultrasound revealed that the fetus had short ribs, short long bones, and narrow thorax at 26+1 gestational weeks. WES and Sanger sequencing revealed that the fetus has harbored compound heterozygous variants of the DYNC2I1 gene, namely c.265_268 (p.Gln89GlyfsTer15) in exon 3 and c.1777C>T (p.Arg593Trp) in exon 14, which were inherited from his father and mother, respectively. Prediction of the DYNC2I1 protein structure suggested that the c.265_268del variant has formed a premature termination codon, which may significantly alter the protein's secondary structure. The c.1777C>T variant may disrupt the electrostatic interaction between Arg593 and Asp729. Based on the ACMG guidelines, the c.265_268del (p.Gln89GlyfsTer15) variant was predicted to be likely pathogenic (PM2_Supporting +PVS1), whilst the c.1777C>T(p.Arg593Trp) variant was rated as uncertain significance (PM2_Supporting+PM3+PP4). Literature search has identified five articles related to biallelic DYNC2I1 variants involving a total of 11 fetuses/patients. Together with the fetus from this study, typical phenotypes included short ribs (6 cases), narrow thorax (6 cases), short limb bones (6 cases), and hand polydactyly (6 cases), and foot polydactyly (5 cases), albeit with significant clinical heterogeneity. A total of 12 genetic variants were identified, among which c.44delC was the most common (16.7%, 4/24), followed by c.1777C>T, c.2246C>T, and c.2305G>A (each accounting for 12.5%). No mutational hotspot was identified. CONCLUSION: The c.265_268del (p.Gln89GlyfsTer15) and c.1777C>T (p.Arg593Trp) compound heterozygous variants of the DYNC2I1 gene probably underlay the pathogenesis of SRTD8 in this fetus. This study has enriched the mutational spectrum of the DYNC2I1 gene and facilitated etiological diagnosis and treatment of DYNC2I1-related diseases.
Humans↗
Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.
BACKGROUND AND OBJECTIVES: Since 1993 the demographic, clinical, analytical, genetic and follow-up data of Spanish patients with Gaucher's disease (GD) have been collected in an anonymous national database. Some statistical analyses of these data are reported concerning the distribution, clinical and genetic characteristics of GD in Spain and the response to enzyme replacement therapy (ERT) is evaluated. DESIGN AND METHODS: We performed a cohort study in Spanish GD patients by national inquiry, submitted by mail to 75 Spanish hospitals (over 300 beds) directed to internal medicine, hematology and pediatric departments. The questionnaire included 30 questions (gender, height, weight, date of birth, date of diagnosis, abode and number of relatives affected, bone crises, neurologic symptoms, other symptoms, liver and spleen size, hemoglobin, leukocyte and platelet count, tartrate resistant acid phosphatase, ALT/AST, chitotrioxidase activity, total plasma cholesterol, triglycerides, high density lipoprotein cholesterol, enzymatic activity of acid -glycosides, mutation, X-ray examination, magnetic resonance imaging-MRI-evaluation, spleen removal, and orthopedic procedures (ERT, date of first infusion). Each case with a presumed diagnosis was considered an enrolled patient. Written informed consent was obtained from all patients. The cases without enzymatic or genetic diagnosis were studied in a reference laboratory (the same for all the samples). Clinical status was evaluated by Zimran's severity score index. The enzymatic activity of acid -glycosides was determined in cellular extracts of peripheral blood granulocytes by a fluorescent method using an artificial substrate (4-methyl-umbelliferyl -D-glycoside). Polymerase chain reaction (PCR) molecular analysis was performed in DNA samples to characterize the mutations (N370S, L444P, IVS2+1, 84GG, D409H, R463C and G377S) of the glycoside genes. Two groups were created according to age at diagnosis: children under 15 years and adults, in order to evaluate clinical, genetics and follow-up. Effectiveness of ERT was evaluated using objective parameters (hemoglobin, platelets, liver and spleen size, skeletal lesions), before and after therapy. In patients under ERT, quality of life (QOL) was assessed by a SF-36 modified inquiry, including 22 questions. Statistical analysis including descriptive and frequency distribution for each variable was performed, the ANOVA test was used to identify differences between groups. Paired t-tests (before and during therapy) were carried out. The degree of linear association among measured variables was estimated by Pearson's correlation. RESULTS: By December 1999 one hundred and fifty-five patients from 117 families had been included from 66 Spanish Hospitals; the inquiry was complete for 114 patients. Mean age at diagnosis: 24.0+/-16.9 years, M/F: 72/83. No symptoms were present at diagnosis in 19.3%; visceral disease was present in 95.6% and bone disease in 62.4%. Hemoglobin levels, leukocyte and platelet counts were below the normal range in 62.3% of cases. Higher acid phosphatase levels were observed in 99% of cases; biochemical liver dysfunction tests were found in 42.9%. The test for acid glycosidase showed a marked decrease in enzymatic activity. Morphologic documentation (spleen or liver tissue, bone marrow biopsy or aspirate) of GD was obtained in 71% of the patients. The most frequent mutations observed were N370S (46.3% of the alleles detected), and L444P (18.5%). In 18.7% of the cases the disease was stable or progressing slightly; in 23.8% the spleen had been removed between 1-14 years after diagnosis and 60.6% were under ERT. Children showed both greater liver enlargement and higher SSI (p = 0.0001). There was a correlation between SSI and clinical or analytical data in adults patients for spleen size (Z: 3.142; CI: 0. 173-0.637; p= 0.0017). In 35 patients on ERT, clinical and analytic data improved as did self-evaluated QOL (p< 0.0001). (A
Adolescent↗
[Cardiovascular research in the era of genome medicine and EBM].
In the postgenome era, medical science should aim at elucidating the physiological functions as well as pathophysiological roles of genetics in a variety of diseases. The latter is especially important in clinical medicine for investigating the biological background of diseases. The cardiovascular system undergoes phenotypic modulation in response to environmental factors such as hemodynamic stress, aging, inflammation, and various life style influences including smoking and obesity. We have been focusing on transcriptional mechanisms by which cardiovascular cells change the profiles of gene expression in response to metabolic and mechanical stresses. We isolated a DNA-binding factor, Krüppel-like factor 5 (KLF5), as a transcription factor of the embryonic isoform of smooth muscle myosin heavy chain gene(SMemb), whose expression is induced in phenotypically modulated smooth muscle cell and cardiac fibroblasts. Recently, by developing KLF5 gene knockout mice, we have found that KLF5 is an essential regulator of cardiovascular remodeling. We have further found that differential chemical modifications and protein-protein interactions regulate this family of factors. To understand genome functions in the pathogenesis of cardiovascular diseases, we are constructing an original database system by filing complicated clinical parameters for genetic association studies. DNA samples obtained from the participants have reached approximately one thousand. Using them, we have analyzed over 50 genetic polymorphisms implicated in atherosclerotic diseases. Among the many SNPs analyzed in our study, we have shown that polymorphisms in the MMP-1 and MMP-3 promoters are associated with disease susceptibility to myocardial infarction.
Evidence-Based Medicine↗
GeneTests-GeneClinics: genetic testing information for a growing audience.
The development and usage of two companion NIH-funded genetic testing information databases, GeneTests (www.genetests.org) and GeneClinics (www.geneclinics.org), now merged into one web site, reflect the steadily increasing use of genetic testing and the expanding audience for genetic testing information. Established in 1993 as Helix, a genetics laboratory directory of approximately 110 listings, GeneTests has grown into a database of over 900 tests for inherited diseases, a directory of over 500 international laboratories, a directory of over 1,000 U.S. and international genetics clinics, and a resource for educational/teaching materials and reports of summary genetic test data. GeneClinics, founded in 1997 as an expert-authored, peer-reviewed, disease-specific knowledge base relating genetic testing to patient care, has grown steadily, now containing over 130 expert-authored, peer-reviewed full-text entries relating genetic testing information to diagnosis, management, and genetic counseling of specific inherited diseases. In spring 2001 the two databases were merged and in October 2001 the two web sites were merged for the purpose of seamless navigation into the GeneTests-GeneClinics site (www.genetests.org or www.geneclinics.org); the GeneClinics knowledge base was renamed "GeneReviews" to avoid confusion with the U.S. and international clinic directories. As genetic testing has moved steadily out of research venues and into routine medical practice, the user audience for these databases has become international and expansive and includes healthcare providers, patients, educators, policy makers, and the media. The use of these combined resources has grown to approximately 3,200 visits/day.
Databases, Genetic↗
GENFILES: a computerized medical genetics information network. I. An overview.
GENFILES is a comprehensive computer information network to serve research, service, and administrative needs in medical genetics. Four major databases contain detailed information generated by the cytogenetics laboratory, the prenatal diagnosis program, the diagnostic and genetic counseling clinics, and the human cell culture facility. Unique aspects are the use of RAMIS, a commercial database management system, and of microprocessor computers as "intelligent" terminals with significant data-handling capabilities. All databases are no-line in a directly accessed large timesharing computer. The system, which has been designed, controlled and maintained by regular genetics staff, is an easy to use, moderate-cost tool well suited for use as a regional clinical genetics information system.
Computers↗
[Application of nicotinic acid in neurological clinical practice].
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Databases, Genetic↗
NEUROLOGICAL clinical pathological conference.
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Brain Diseases↗
Databases for genetic services. Current usages and future directions.
Computer-based systems for the management of data in clinical genetics have become increasingly available for patient information storage and retrieval, evaluation and diagnosis, and pedigree data. The need for a national genetic services database has been recognized, and federal grants have provided funds for the development of state and regional databases for the evaluation of genetic services. Continuation of federal funding and the development of data systems that allow local, state, and regional needs to be met are essential for any progress to be made toward a national database.
Database Management Systems↗