Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Archival pathologic specimens are a rich source for the studies of hereditary diseases, cancer genetics, and identification cases in forensic science. In this study, the intraindividual consistency of eight identifying microsatellite polymorphisms (i.e., HMTH01, vWFA31, F13A, MITMH26, FES-FPS, CD4, TPOX, CSF1PO)in a cohort of 40 patients with invasive breast carcinoma were analyzed. Nests of cancer and adjacent morphologically normal ductal-lobular structures (TDLUs) were microdissected as discrete regions from hematoxylin-eosin-stained slides. As controls for each case, DNA templates were prepared from TDLUs located in nontumor quadrants and from unaffected breast skin. Over 1,400 carefully controlled PCR reactions were reviewed, and no evidence was found for microsatellite mismatches among intraindividual cancer and control DNAs. The negative results, supported by validation experiments, strongly argue that alterations of simple repeats are rare somatic events during the onset and progression of breast cancer. This study suggests that PCR artifacts may be a relevant cause of misdiagnosis of microsatellite instability in human sporadic cancer.
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PMID:Molecular stability of DNA typing short tandem repeats in the mammary tree of patients with breast cancer. 1185 1

This study examined experimentally the effectiveness of preparatory information provided by parents in creating accurate expectations and reducing children's procedural pain. Ear piercing was used as an analogue to minor painful medical procedures. Sixty children, aged 5-12 years, requesting ear piercing and accompanied by their parents, were randomly assigned to a parental information or contact-control condition. Parents in the information group were asked to read their child a description of the procedures and sensations of ear piercing. Parents in the contact-control condition played picture games for the same amount of time. Expected pain was measured on a visual analogue scale (VAS) and the Faces Pain Scale-Revised (FPS-R) before and after the parental information or contact-control procedure. Experienced pain was measured on the same two scales immediately after the ear piercing. Prepared children had more accurate expectations and reported significantly less pain (M=27.3) than non-prepared children (M=49.8). The validity of the measures was supported by strong correlations (r=0.87 to 0.96) between the VAS and FPS-R. The findings suggest that parental provision of preparatory information creates accurate expectations and reduces pain for children.
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PMID:Expected and reported pain in children undergoing ear piercing: a randomized trial of preparation by parents. 1186 36

Formalin-induced DNA degradation was studied at different fixation times (3, 7, 16 and 32 days) each on 10 formalin fixed paraffin embedded tissues (FFPET) stored for 15 years at room temperature. The four different extraction protocols used in this study showed that Chelex100 extracts performed the best at 3 and 7 days of formalin fixation (DFF) (with regard to the quantity and the quality of the DNA). However, Qiamp extracts showed better results for long sized alleles, as well for single polymerase chain reaction (PCR) amplifications after 16 and 32 DFF, as for multiplex PCR at shorter fixation times. DNA degradation is expressed by the size of the amplified alleles, only 100 bp templates surviving after 32 DFF (AMG locus). Single locus amplifications (CD4 and FES/FPS alleles) performed better than multiplex PCR (ProfilerPlus), with nearly 100% positive results at 7 DFF. In both types of amplifications, the success rate decreased proportionally with the time of formalin fixation and, consequently, with the size of the required DNA template.
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PMID:DNA genotyping of unbuffered formalin fixed paraffin embedded tissues. 1190 65

The coancestry coefficients for the Korean population are estimated by using 3 statistical methods for 17 loci (D3S1358, D21S11, D13S317, D18S51, D7S820, D8S1179, D5S818, FGA, VWA, F13A1, FES/FPS, THO1, TPOX, CSF1PO, D12S391, GABA and ACTBP2). The subpopulations were considered by last name and home origin, respectively. Our results show that the values for the coancestry coefficient for the Korean population are too large to ignore although they do not show substantial heterogeneity. These estimated values are also applied to simulated forensic cases.
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PMID:Statistical analysis for estimating heterogeneity of the Korean population in DNA typing using STR loci. 1211 18

Population study was carried out on the sample of 167 unrelated donors from the wider area of the Croatia's capital, Zagreb, using the short tandem reapet (STR) loci: TH01, VWFA31, FES/FPS, F13A01, D1S1656, D12S391, D18S535 and D22S683.
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PMID:Determination of polymorphism at eight STR loci in the Croatian population using automated detection. 1217 70

The policy statement on infertility issued by the International Medical Advisory Panel of the International Planned Parenthood Federation (IPPF) and adopted by the Central Council of the IPPF in November, 1984, is provided. The IPPF recognizes that subinfertility and infertility is a part of family planning and provides suggestions for how Family Planning Associations (FPAs) can provide supportive assistance in this area of concern. Depending on the facilities and resources available at specific clinics, FPS can provide preventive, counseling, diagnostic, treatment, and referral services. FPAs can play a major role in prevention. Many conditions which cause infertility are preventable, and these include sexually transmitted diseases, infections stemming from abortion and childbirth, and possibly tuberculosis. IUDs increase the risk of pelvic inflammatory disease and may increase the risk of infertility; however, a direct relationship between IUDs and infertility has not been established. Injectable contraceptives may delay the return of fertility but do not lead to permanent infertility. Barrier methods protect againsr sexually transmitted diseases, and oral contraceptives may provide protection from pelvic inflammatory disease. FPAs should be familiar with the major causes of infertility in their region and adopt an advocacy role by promoting community programs to control sexually transmitted diseases which may play a role in infertility, to improve obstetric care, to increase access to reproductive health services, and to provide reproductive educational services for adolescents. FPAs can work in cooporation with other agencies concerned with infertility prevention and management. FPAs can play a direct role by educating their clients about infertility prevention. Most FPAs do have have the facilities and personnel to provide diagnostic and treatment services, but they can provide referral services. They should establish a link with centers which are fully equipped to provide diagnostic and treatment services. FPAs, with appropriately trained personnel, may offer screening services such as taking sexual histories and providing instruction in the timing of sexual intercourse. Clinics, with appropriate laboratory facilities, may offer endometrial biopsy, postcoital testing, and semen analysis.
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PMID:IPPF statement on infertility. 1231 3

Allele and genotype frequencies for the nine loci, HumCSF1PO, HumTHO1, HumTPOX, HumFES/FPS, HumF13B, HumVWA, D3S1358, D7S820 and D16S539 were determined using Silver STR III System on 223-598 unrelated Turkish individuals from different regions of the country.
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PMID:Turkish population data on nine short tandem repeat loci: HumCSF1PO, HumTHO1, HumTPOX, HumFES/FPS, HumF13B, HumVWA, D3S1358, D7S820, D16S539. 1237 51

The allele frequencies for eight short tandem repeat (STR) loci HUMvWA, HUMFES/FPS, HUMF13A, HUMF13B, HUMTHO1, HUMTPOX, HUMCSF1P0, HUMLPL included in Geneprint STR kits were obtained from 234 unrelated individuals in Casablanca.
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PMID:Population genetic data of eight tetrameric short tandem repeats (STRs) in Casablanca resident population to use in forensic casework. 1268 56

We describe here our collaborative efforts in identifying 2 fatalities of a fire disaster by using a variety of identification techniques. Postmortem findings in both cases were reinforced using Short Tandem Repeat (STR) DNA technology to establish with a high degree of certainty the identities of 2 child victims. STR markers used in the present study include HUMAMEL, HUMCSFIPO, HUMTHO1, HUMvWA, HUMFES/FPS, HUMF13A01, HUMFOLP23, D8S3O6, HUMFGA, and HUMTPOX. Unambiguous identification was made possible through matching DNA profiles generated from skeletal remains with those from umbilical tissues. These tissues were kept by their mothers in accordance with a Philippine tradition and were submitted for DNA analysis. Of the DNA profiles generated from exhumed bone samples of 21 child victims, comparison with the genetic profiles of children A and B obtained from umbilical tissues showed consistent DNA matches with remains 1756 and 1758, respectively.
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PMID:Identification of two fire victims by comparative nuclear DNA typing of skeletal remains and stored umbilical tissues. 1277 50

[(18)F]1-(Fluoropropyl)-4-[(4-cyanophenoxy)methyl]piperidine ([(18)F]FPS) is a novel high affinity (KD = 0.5 nM) sigma receptor radioligand that exhibits saturable and selective in vivo binding to sigma receptors in rats, mice and non-human primates. In order to support an IND application for the characterization of [(18)F]FPS through PET imaging studies in humans, single organ and whole body radiation adsorbed doses associated with [(18)F]FPS injection were estimated from distribution data obtained in rats. In addition, acute toxicity studies were conducted in rats and rabbits and limited toxicity analyses were performed in dogs. Radiation dosimetry estimates obtained using rat biodistribution analysis of [(18)F]FPS suggest that most organs would receive around 0.012-0.015 mGy/MBq. The adrenal glands, brain, kidneys, lungs, and spleen would receive slightly higher doses (0.02-0.03 mGy/MBq). The adrenal glands were identified as the organs receiving the greatest adsorbed radiation dose. The total exposure resulting from a 5 mCi administration of [(18)F]FPS is well below the FDA defined limits for yearly cumulative and per study exposures to research participants. Extended acute toxicity studies in rats and rabbits, and limited acute toxicity studies in beagle dogs suggest at least a 175-fold safety margin in humans at a mass dose limit of 2.8 microg per intravenous injection. This estimate is based on the measured no observable effect doses (in mg/m(2)) in these species. These data support the expectation that [(18)F]FPS will be safe for use in human PET imaging studies at a maximum administration of 5 mCi and a mass dose equal to or less than 2.8 microg FPS per injection.
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PMID:Preclinical acute toxicity studies and rodent-based dosimetry estimates of the novel sigma-1 receptor radiotracer [(18)F]FPS. 1283 95


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