Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Repositories”

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 793 records · Page 44Linked to original sources
PubMed1977

Some considerations in the design of new antineoplastic agents.

The design of many antineoplastic agents has been based on atom or group replacement in normal metabolites. New dimensions are being added to this approach by the synthesis of transition state, bisubstrate and "suicide" inhibitors. These provide greater potency and in some cases selectivity. Leads for differential sensitivity of viral infected cells are appearing (5'-amino-5-iodo-3',5'-dideoxy-uridine, AIU). Equally important has been the development of repository and precursor forms of active drugs along with structures having altered physical and metabolic properties. In the future combination therapy may include drugs whose intrinsic antitumor activity is relatively low but which in combination provide the means of potentiating the antitumor activity of other agents (THU, deoxycoformycin, pyrazofurin). Finally, the potential for developing macromolecular "drugs" such as therapeutic enzymes and peptide hormone analogs must be viewed as a whole new area for drug design.

Antineoplastic Agents↗
PubMed1979

Eastern Cooperative Oncology Group experience with the rappaport classification of non-Hodgkin's lymphomas.

Eastern Cooperative Oncology Group experience in the clinical application of the Rappaport Classification on Non-Hodgkin's lymphomas (NHL) is reviewed in 670 cases studied since 1972. The diagnoses of institutional pathologists were reviewed by the Pathology Panel and Repository Center for Lymphoma Clinical Studies. Diagnostic agreement in regard to histologic pattern (nodular versus diffuse) was excellent (90%) but was less favorable when concurrence as to both pattern and cell type was assessed (82% in NLDP and 60% or less in other subtypes). Disagreement in regard to NHL diagnosis is related to the complexity of present nomenclature and to the lack of support of pathology activities within cooperative groups. It is suggested that patients entered into group NHL studies be randomized into favorable and unfavorable groups, primarily on the basis of histological pattern.

Humans↗
PubMed1981

Lymphoblastic lymphoma: a clinicopathologic study of 95 patients.

A retrospective clinicopathologic study of lymphoblastic lymphoma was based on 95 patients from the files of the Repository Center for Lymphoma Clinical Studies. All patients were treated according to different protocols of Cooperative Oncology groups sponsored by the National Cancer Institute. The patients ranged in age from 4 to 84 years, with a median of 30 years. Sixty-eight patients were male and 27 female, with respective median ages of 27 and 50 years. The male-to-female ratio was 2.5:1. Forty patients had mediastinal masses; 30 (75%) of whom were male. The median survival of all patients was 17 months (range 1-100 months). To ascertain the influence of various clinical and morphologic parameters of survival, univariate and multivariate statistical analyses were performed. Patients older than 30 years of age had significantly lower incidences of mediastinal involvement (P = 0.01), number of mitotic figures (P = 0.04), and development of leukemia (P = 0.02) than patients younger than 30. Whereas lymphoblastic lymphoma is generally considered to be a disease of children and young adults, this study indicates that lymphoblastic lymphoma occurs in all age groups. These findings further suggest that lymphoblastic lymphoma may have a different biologic behavior in older patients.

Adolescent↗
PubMed1985

Pediatric Oncology Group experience with modified LSA2-L2 therapy in 107 children with non-Hodgkin's lymphoma (Burkitt's lymphoma excluded).

From September 1976 to August 1979 the Pediatric Oncology Group accessed 145 children to study the effectiveness of modified LSA2-L2 therapy for the treatment of non-Hodgkin's lymphoma (NHL). Burkitt's lymphoma patients were ineligible; E-rosette-positive patients with greater than or equal to 25% blasts in the marrow entered after February 1977 were reported separately. Radiotherapy could be used to treat patients with compressive mediastinal disease at diagnosis and was prescribed for those with residual abdominal disease as demonstrated by second-look surgery on completion of induction chemotherapy. Confirmation of diagnosis by the Pathology Panel and Repository Center for Lymphoma Clinical Trials was mandatory. Diagnostic tissues of 131 patients were reviewed. Among 107 evaluable patients, 91 (85%) achieved complete remission. Differences in response rates among the three major histologic groups (lymphoblastic, undifferentiated, and large cell) were of statistical significance, with response being poorest for diffuse undifferentiated lymphoma (P = 0.03). Failure-free survival did not differ significantly for the three major histologic diagnoses. While response rate was lowest for Murphy Stage III patients (79%), the differences among the stages were not significant. Stage was not a significant prognostic factor for failure-free survival (P = 0.08). The number of patients still at risk and the Kaplan-Meier estimate of percentage of patients remaining at risk after 3 years is: Stage I, 8 (100%); Stage II, 10 (67%); Stage III, 28 (57%); Stage IV, 6 (39%); and greater than 25% blasts, 1 (13%). Stage III failure curves for lymphoblastic disease show continuing stepwise failure through 3 years. Among patients with diffuse large cell and undifferentiated disease, most failures occurred by 8 months. M1 and M2 levels of marrow involvement were not prognostic among children with lymphoblastic disease. The presence of a mediastinal mass was a significant factor contributing to failure in children with lymphoblastic disease without marrow involvement. Leucocytosis greater than 10,000/1, was a significant (P = less than 0.001) factor predicting failure-free survival for patients with large cell lymphoma. The delivery of radiotherapy was not a significant factor in achieving remission. No consistent benefit resulted from using radiotherapy to treat postinduction residual disease demonstrated on second-look exploration. The LSA2-L2 regimen was associated with considerable toxicity, severe or worse in 77% and life-threatening to 40% of these patients. Four died of toxicity. However, therapy was given more easily and safely as investigator experience increased.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1990

Time trends in Hodgkin's disease incidence. The role of diagnostic accuracy.

A prior study of Hodgkin's disease (HD) incidence using national cancer survey data (1969-1980) identified unprecedented rate declines among white persons older than 40 years, and rate increases among young adults aged 15 through 39. These trends could be due to improved diagnostic accuracy. To investigate this hypothesis, the authors updated incidence rates in whites by age, sex, and histologic subtype through 1984; quantified diagnostic accuracy in corresponding detail using Repository Center for Lymphoma Clinical Studies data, which include original and expert review diagnoses on lymphoma patients; and recalculated HD incidence rates (1969-1984) corrected for diagnostic error. Updated HD incidence rates through 1984 continued to decline in older adults and showed persistent increases for young adults with the nodular sclerosis (NS) histologic subtype. The percentage of original HD diagnoses confirmed on review (confirmation rate) decreased with age and increased over time; in older adults, these patterns opposed observed incidence trends. However, for young adults, confirmation rates of NS, the most common subtype at these ages, were high and changed little over time. After adjustment for diagnostic error, incidence rates for older adults were lower than previously observed and showed no secular changes. However, young adults with NS had slightly larger rate increases than in uncorrected data. Thus, contemporary changes in HD incidence for whites primarily involve growing risk to persons at the start of adult life. These patterns are compatible with trends in suspected sociodemographic risk factors that suggest an infectious etiology for HD.

Age Factors↗
PubMed2000

8th International HUGO-Mutation Database Initiative Meeting, April 9, 2000, Vancouver, Canada.

The 8th International HUGO-Mutation Database Initiative Meeting was held on April 9, 2000, in Vancouver, Canada. Meeting highlights are here described. The discussion predominantly revolved around the concept of a central mutation database, which would serve as a repository of gene sequence variants for the community. Specifications for such a central database were prepared and presented by a working group including bioinformatics experts, LSDB operators, central database operators, and an industry representative. Refinement of the specifications and consideration of the implementation of such a database was conducted through a consortium of public and private collaborators and funding. Members were urged to generate broad community support for the project.

Canada↗
PubMed2002

Cellular and molecular requirements for the recall of IL-4-producing memory CD4(+)CD45RO(+)CD27(-) T cells during protection induced by attenuated Plasmodium falciparum sporozoites.

The requirements for maintenance of antigen (Ag)-specific memory T cells in protection to malaria is poorly understood. We have previously demonstrated a recall of IL-4-producing memory CD4(+)CD45RO(+) T cells with parasitized red blood cells (pRBC) in persons protected by radiation-attenuated Plasmodium falciparum sporozoites (gamma-spz). Using the CD27 marker, we have now identified two subsets of CD4(+)CD45RO(+) T cells: CD4(+)CD45RO(+)CD27(+) T cells representing an early memory and CD4(+)CD45RO(+)CD27() T cells representing a terminally differentiated memory cells. A small subset of CD4(+)CD45RO(+)CD27(-) T cells also expressed CD70, the CD27 ligand. The addition of anti-CD70 monoclonal antibody (mAb) to pRBC-stimulated cultures significantly inhibited the conversion of CD27(+) to CD27(-) subset without profoundly affecting IL-4 production. In contrast, the inclusion of anti-CD27 mAb in parallel cultures abrogated IL-4 production without interfering with conscription of T cells into the CD27(-) T cell set. We propose that the persistence of memory CD4(+) T cells depends on Ag-driven conscription of a mature memory phenotype through co-ligation of CD27 and CD70 expressed, respectively, on CD27(+) and CD27(-) T cells. Hence, protracted protection in malaria depends in part on memory CD4(+) T cells that require specific Ag presumably from the repositories of liver-and blood-stage antigens and the delivery of a second signal from the CD27:CD70 interaction.

Adult↗
PubMed2001

Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection.

A genetic theory of "multifactorial" malformations, i.e., anomalies of blastogenesis or organogenesis, involving polygenic predisposition with morphogenetic threshold effect, was developed by Sewall Wright in the 1920s and remains an essential basis of birth defects biology. Because of the phenomenon of universality, i.e., the deployment of identical inductive, or pattern-forming, upstream molecular mechanisms during the earliest stages of mammalian morphogenesis, Wright's work on guinea pig otocephaly is highly pertinent to "corresponding," i.e., homologous malformations in humans. This concept is illustrated on the hand of a human fetus in the Vilnius (Lithuania) Pathological Museum with anotocephaly, i.e., anencephaly and otocephaly so severe as to correspond to Wright's guinea pig otocephaly grade 11 or 12. The observation also supports our apology for old museums and old books as repositories for anomalies, no less important for their rarity.

Anencephaly↗
PubMed1987

Duplication 3p21----3pter and cyclopia.

We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).

Abnormalities, Multiple↗
PubMed1994

Towards identification of X-linked mental retardation genes: a proposal.

Identification of X linked mental retardation (XLMR) genes that can only be broadly localised by linkage analysis will ultimately depend on systematic screening of many probands for mutations in many candidate genes. This would be more efficiently performed by analysis of mRNA (or illegitimate transcripts) by reverse transcriptase-polymerase chain reaction (RT-PCR). A scheme is proposed that associates standardized reporting of XLMR families, including small families that would not by themselves yield statistically significant linkage information, and deposit of a lymphoblastoid cell line for one proband of each family to an accessible repository.

Biological Specimen Banks↗
PubMed2002

Human metabotropic glutamate receptor 2 gene (GRM2): chromosomal sublocalization (3p21.1-p21.2) and genomic organization.

Imbalances in glutamatergic function have been implicated in the pathogenesis of neuropsychiatric disorders. Consequently, glutamate receptors genes are promising candidates in search of susceptibility genes for these disorders. In the present study, we report the chromosomal sublocalization and genomic organization of the human metabotropic glutamate receptor 2 gene (GRM2). Using monochromosomal hybrid cell lines of NIGMS Mapping Panel 2 (Coriell Cell Repository), the GRM2 gene was localized to human chromosome 3, confirming previously reported localization. In addition, using the radiation hybrid panel RH3 (Research Genetics), we sublocalized the GRM2 gene to chromosomal region 3p21.1-p21.2. The genomic organization of the GRM2 gene was established using a premade library of adaptor-ligated, human-specific genomic DNA fragments. The gene consists of 5 exons, with sizes ranging from 74 to 1,076 bp.

Chromosome Mapping↗
PubMed2006

Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations.

The protein tyrosine phosphatase, nonreceptor 22 gene (PTPN22) maps to human chromosome 1p13.3-p13.1 and encodes an important negative regulator of T-cell activation, lymphoid-specific phosphatase (Lyp). Recently, the minor allele of a single-nucleotide polymorphism (SNP) at nucleotide position 1858 (rs2476601, +1858C > T) was found to be associated with type 1 diabetes. However, the degree of the association is variable among ethnic populations, suggesting the presence of other disease-associated variants in PTPN22. To examine this possibility, we carried out a systemic search for PTPN22 using direct sequencing of PCR-amplified products in the Japanese population. Association and linkage studies were also conducted in 1,690 Japanese samples, 180 Korean samples, and 472 Caucasian samples from 95 nuclear families. We identified five novel SNPs, but not the +1858C > T SNP. Of these two frequent SNPs, -1123G > C, and +2740C > T were in strong linkage disequilibrium (LD), and the -1123G > C promoter SNP was associated with acute-onset but not slow-onset type 1 diabetes in the Japanese population (odds ratio [OR] = 1.42, 95% CI = 1.07-1.89, P = 0.015). This association was observed also in Korean patients with type 1 diabetes (Mantel-Haenszel chi2= 6.543, P = 0.0105, combined OR = 1.41 95% CI = 1.09-1.82). Furthermore, the affected family-based control (AFBAC) association test and the transmission disequilibrium analysis of multiplex families of European descent from the British Diabetes Association (BDA) Warren Repository indicated that the association was stronger in -1123G > C compared to +1858C > T. In conclusion, the type 1 diabetes association with PTPN22 is confirmed, but it cannot be attributed solely to the +1858C > T variant. The promoter -1123G > C SNP is a more likely causative variant in PTPN22.

Alleles↗
PubMed2006

The OCD collaborative genetics study: methods and sample description.

Results from twin and family studies suggest that obsessive-compulsive disorder (OCD) may be transmitted in families but, to date, genes for the disorder have not been identified. The OCD Collaborative Genetics Study (OCGS) is a six-site collaborative genetic linkage study of OCD. Specimens and blinded clinical data will be made available through the National Institute of Mental Health (NIMH) cell repository. In this initial report, we describe the methods of the study and present clinical characteristics of affected individuals for researchers interested in this valuable resource for genetic studies of OCD. The project clinically evaluated and collected blood specimens from 238 families containing 299 OCD-affected sibling pairs and their parents, and additional affected relative pairs, for a genome-wide linkage study. Of the 999 individuals interviewed to date, 624 were diagnosed with "definite" OCD. The mean age of subjects was 36 years (range 7-95). The majority of affected individuals (66%) were female. The mean age at onset of obsessive-compulsive symptoms was 9.5 years. Specific mood disorders, anxiety disorders, eating disorders, and skin picking were more prevalent in female cases, whereas tics, Tourette disorder, and alcohol dependence were more prevalent in male cases. Compared to "definite" cases of OCD, "probable" cases (n = 82) had, on average, later age at onset of obsessive-compulsive symptoms, lower severity score, and fewer numbers of different categories of obsessions and compulsions, and they were less likely to have received treatment for their symptoms.

Adolescent↗
PubMed2006

Abnormalities of cholesterol metabolism in autism spectrum disorders.

Although Smith-Lemli-Opitz Syndrome (SLOS), a genetic condition of impaired cholesterol biosynthesis, is associated with autism [Tierney et al., 2001; Am J Med Genet 98:191-200.], the incidence of SLOS and other sterol disorders among individuals with autism spectrum disorders (ASD) is unknown. This study investigated (1) the incidence of biochemically diagnosed SLOS in blood samples from a cohort of subjects with ASD from families in which more than one individual had ASD and (2) the type and incidence of other sterol disorders in the same group. Using gas chromatography/mass spectrometry, cholesterol, and its precursor sterols were quantified in 100 samples from subjects with ASD obtained from the Autism Genetic Resource Exchange (AGRE) specimen repository. Although no sample had sterol levels consistent with SLOS, 19 samples had total cholesterol levels lower than 100 mg/dl, which is below the 5th centile for children over age 2 years. These findings suggest that, in addition to SLOS, there may be other disorders of sterol metabolism or homeostasis associated with ASD.

Autistic Disorder↗
PubMed2006

Rh and ABO maternal-fetal incompatibility and risk of autism.

We hypothesized that maternal-fetal incompatibility at the Rh or ABO loci may contribute to the risk of autism. There are biologically plausible reasons to believe such effects may play a role, and two previous epidemiologic studies have provided suggestive evidence. To further test this hypothesis, we genotyped the Rh and ABO loci in a sample of 389 independent case-parent trios from the AGRE repository and analyzed the data using a modification of the log-linear model for case-parent trios in which the effects of maternal-fetal genotype incompatibility are modeled jointly with the effects of the affected child's or mother's genotypes. We did not find any evidence that incompatibility at the Rh or ABO loci increases the risk of autism. Furthermore, we did not find any evidence for the presence of a high-risk susceptibility allele at or near these two loci operating either through the mother or child.

ABO Blood-Group System↗
PubMed1986

A clinicopathological study of 323 patients with oligodendrogliomas.

All patients with oligodendrogliomas (554) from the repository of the Armed Forces Institute of Pathology were retrospectively analyzed. The pathological diagnosis was confirmed in 323 patients and each case was graded according to a previously established grading system. The clinical features of these 323 verified cases of oligodendroglioma are presented, analyzed, and compared with findings in previous studies. There is a significant age skew according to tumor grade, with 68% of patients with grade A tumors under 40 years and 83% of patients with grade D tumors over 40 years of age. Headache was the most common symptom, followed by seizure, visual loss, papilledema, paralysis, and dementia. No symptoms showed a statistically significant correlation with tumor grade. However, tumor grading allowed significant prognostic statements to be made. Attention is drawn to several often neglected symptoms of oligodendrogliomas: ataxia, hemorrhage, stroke, and cerebrospinal fluid spread. This is, to our knowledge, the largest clinicopathological study of oligodendrogliomas to date.

Adolescent↗
PubMed2005

DNA codes for nanoscience.

The nanometer scale is a special place where all sciences meet and develop a particularly strong interdisciplinarity. While biology is a source of inspiration for nanoscientists, chemistry has a central role in turning inspirations and methods from biological systems to nanotechnological use. DNA is the biological molecule by which nanoscience and nanotechnology is mostly fascinated. Nature uses DNA not only as a repository of the genetic information, but also as a controller of the expression of the genes it contains. Thus, there are codes embedded in the DNA sequence that serve to control recognition processes on the atomic scale, such as the base pairing, and others that control processes taking place on the nanoscale. From the chemical point of view, DNA is the supramolecular building block with the highest informational content. Nanoscience has therefore the opportunity of using DNA molecules to increase the level of complexity and efficiency in self-assembling and self-directing processes.

Base Pairing↗
PubMed1991

Ultrastructure of the submandibular gland in the African multimammate rodent, Praomys natalensis.

Praomys natalensis, an African rodent that is phenotypically and cytogenetically intermediate to rats and mice, possesses a submandibular gland that is histologically similar to that in both of these near relatives, but is ultrastructurally unique. Acinar cells, which are seromucous in nature, contain secretory granules that often contain a perfect "bull's eye" inclusion (or some variant of this configuration) suspended in a dense matrix. The Golgi apparatus in these cells has an unusual structure, with the Golgi saccules often being doubled over, so that the outermost saccule also is the innermost. This peculiar architecture apparently arises fairly late in the secretory process, i.e., a Golgi apparatus of conventional structure gives rise to a nascent granule (condensing vacuole), then its saccules secondarily fold over. Intercalated ducts are preceded by a ring of specialized cells that have a number of serous-type granules, the duct cells themselves being devoid of such granules. Granular convoluted tubules (GCT) contain large dense granules that appear to be spontaneously involved in chain exocytosis. These GCT granules probably are the repositories of nerve growth factor, which is particularly abundant in Praomys. Striated ducts for the most part are typical in appearance, but they and, to a lesser extent, GCTs contain prominent, membrane-bound crystalloids with a periodicity of about 15 nm.

Animals↗