SEARCH · PubMed Health

Results for “Code of Conduct for Research involving Humans”

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.

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

At least 163 records · Page 9Linked to original sources

PubMed2005

Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.

OBJECTIVE: The aim of our study was to characterize the hearing impairment in a large multigenerational Greek family with autosomal dominant nonsyndromic otosclerosis and to perform genetic linkage analysis to known otosclerosis loci and collagen genes. In addition, we looked for mutations in the NOG gene to rule out congenital stapes ankylosis syndrome. METHODS: Audiological analysis of the affected persons was based on multiple linear regression (MLR) analysis and construction of age-related typical audiograms (ARTA). Genotyping of microsatellite DNA polymorphisms for known otosclerosis (OTSC) loci or collagen genes and linkage analysis using the MLINK computer program were performed. The coding region of the NOG gene was screened for mutations by direct DNA sequencing. RESULTS: The hearing loss in this family appears in childhood as conductive, but soon becomes mixed. Because the additional sensorineural component is progressive, this finally has lead to a pure sensorineural hearing loss in some family members, as the conductive component is masked. Audiological analysis showed an age-independent conductive component and a progressive frequency-specific sensorineural component. Linkage analysis excluded linkage to the four known otosclerosis loci (OTSC1, OTSC2, OTSC3, and OTSC5), as well as to the COL1A1 and COL1A2 genes. Mutation analysis of the coding region of the NOG gene did not reveal any disease causing mutation. CONCLUSIONS: This study represents the first description of a detailed audiological analysis in a large pedigree segregating otosclerosis as a monogenic autosomal dominant trait. Exclusion of the four known otosclerosis loci in this family shows that monogenic otosclerosis is a genetically heterogeneous disease involving at least five different genes. A mutation in the NOG gene is not the underlying molecular mechanism of the early onset otosclerosis segregating in this family.

Ankylosis↗

PubMed2000

Detecting and describing preventive intervention effects in a universal school-based randomized trial targeting delinquent and violent behavior.

This study examined theoretical, methodological, and statistical problems involved in evaluating the outcome of aggression on the playground for a universal preventive intervention for conduct disorder. Moderately aggressive children were hypothesized most likely to benefit. Aggression was measured on the playground using observers blind to the group status of the children. Behavior was micro-coded in real time to minimize potential expectancy biases. The effectiveness of the intervention was strongly related to initial levels of aggressiveness. The most aggressive children improved the most. Models that incorporated corrections for low reliability (the ratio of variance due to true time-stable individual differences to total variance) and censoring (a floor effect in the rate data due to short periods of observation) obtained effect sizes 5 times larger than models without such corrections with respect to children who were initially 2 SDs above the mean on aggressiveness.

Aggression↗

PubMed1993

Epidemiologists in industry. Past achievements, unexplored opportunities, and future needs.

Epidemiologists in industry have achieved much in the past several years. In addition to conducting important research into known or suspected hazards in the workplace, they have taken the lead in developing a code of ethics for epidemiologists in industry, established guidelines for good epidemiology practices, and have been actively involved in the development of government regulations and the setting of standards. Yet the scope of their activities can be expanded even further. I have discussed some of these, such as environmental health studies, long-term evaluations of health promotion programs, and research into major chronic diseases. But to move into new areas of research and to continue their work in traditional areas, they need to overcome some important obstacles. Among these that I have discussed are: problems involved in getting comprehensive morbidity information into their data bases, restrictions imposed on access to data by privacy protection laws and regulations, and difficulties in publishing and disseminating the results of negative studies. To overcome these obstacles and to enable industry epidemiologists to expand their activities into new areas, they will need additional support from government regulators to ease restrictions on data acquisition, and from company management to provide their epidemiologists with the resources they need. I hope that such support will be forthcoming so that epidemiologic research in industry can achieve its full potential.

Cross-Sectional Studies↗

PubMed1999

Persistent zoonotic infection of a human with simian foamy virus in the absence of an intact orf-2 accessory gene.

Although foamy viruses (FVs) are endemic among nonhuman primates, FV infection among humans is rare. Recently, simian foamy virus (SFV) infection was reported in 4 of 231 individuals occupationally exposed to primates (1.8%). Secondary transmission to spouses has not been seen, suggesting that while FV is readily zoonotic, humans may represent dead-end hosts. Among different simian species, SFV demonstrates significant sequence diversity within the U3 region of the long terminal repeat (LTR) and 3' accessory open reading frames (ORFs). To examine if persistent human SFV infection and apparent lack of secondary transmission are associated with genetic adaptations in FV regulatory regions, we conducted sequence analysis of the LTR, internal promoter, ORF-1, and ORF-2 on a tissue culture isolate and peripheral blood mononuclear cell samples from a human infected with SFV of African green monkey origin (SFV-3). Compared to the prototype SFV-3 sequence, the LTR, internal promoter, and FV transactivator (ORF-1) showed sequence conservation, suggesting that FV zoonosis is not dependent on host-specific adaptation to these transcriptionally important regions. However, ORF-2 contains a number of deleterious mutations predicted to result in premature termination of protein synthesis. ORF-2 codes in part for the 60-kDa Bet fusion protein, proposed to be involved in the establishment of persistent cellular SFV infections. These results suggest that persistent human infection by SFV and reduced transmissibility may be influenced by the absence of a functional ORF-2.

Amino Acid Sequence↗

PubMed2002

Analysis of association and linkage for the interleukin-4 and interleukin-4 receptor b;alpha; regions in Swedish atopic dermatitis families.

BACKGROUND: Atopic dermatitis (AD) is caused by genetic and environmental factors that interact to determine disease susceptibility and severity. Several lines of evidence suggest that the IL-4 gene and the IL-4-receptor alpha (IL-4Ralpha) gene are involved in the development of atopic diseases. OBJECTIVE: The objective of this study was to evaluate the possible involvement of the chromosomal regions 5q31 and 16p12, which include the genes coding for the IL-4 and the IL-4Ralpha in AD. METHODS: We conducted linkage analysis and association studies using the microsatellite markers D16S298 and D16S403 and a single nucleotide polymorphism in the promoter region of the IL-4 gene (- 590C/T) in 406 Swedish families with at least two siblings affected with AD, in total 1514 individuals. RESULTS AND CONCLUSION: We report linkage (P < 0.005) to the - 590C/T polymorphism in the promoter of the IL-4 gene for the semiquantitative trait severity score of AD. Neither linkage nor association was found to the IL-4Ralpha chromosomal region.

Chromosome Mapping↗

PubMed2005

Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes.

The important role that cilia and flagella play in human disease creates an urgent need to identify genes involved in ciliary assembly and function. The strong and specific induction of flagellar-coding genes during flagellar regeneration in Chlamydomonas reinhardtii suggests that transcriptional profiling of such cells would reveal new flagella-related genes. We have conducted a genome-wide analysis of RNA transcript levels during flagellar regeneration in Chlamydomonas by using maskless photolithography method-produced DNA oligonucleotide microarrays with unique probe sequences for all exons of the 19,803 predicted genes. This analysis represents previously uncharacterized whole-genome transcriptional activity profiling study in this important model organism. Analysis of strongly induced genes reveals a large set of known flagellar components and also identifies a number of important disease-related proteins as being involved with cilia and flagella, including the zebrafish polycystic kidney genes Qilin, Reptin, and Pontin, as well as the testis-expressed tubby-like protein TULP2.

Animals↗

PubMed2007

Lack of BK virus DNA sequences in most transitional-cell carcinomas of the bladder.

BK virus (BKV), a common human polyomavirus infection latent in the kidneys, can reactivate with immunosuppression to cause renal disease. Some have suggested that BKV may contribute to the development of bladder cancer, and BKV sequences have been reported from bladder tumors. To further examine the role of BKV in human bladder cancer, a series of bladder tumors was investigated for BKV genomic sequences. Fresh-frozen specimens from 76 transitional cell carcinoma tissues and 46 paired adjacent normal urothelial tissues archived at the H. Lee Moffitt Cancer Center were studied. All tissues were histopathologically reviewed. DNA extracted from the tissues was tested by quantitative real-time polymerase chain reaction (QPCR) assays to detect BKV DNA sequences in the VP1 coding region. Amplification of ERV-3 was conducted separately to quantify cell copy number. Conventional PCR targeting the BKV T-antigen (T-Ag) coding region and immunohistochemistry for BKV T-Ag were also conducted on all tissues that tested positive for BKV by QPCR. Seventy-three bladder tumors yielded >/=3,000 copies of ERV-3, 4 (5.5%) of which tested positive for BKV with average copy numbers of 7.9, 15.8, 0.4 and 0.3 per 1,000 cells. Paired normal tissue was available for 2 of these BKV-positive tumors, 1 of which was BKV-positive (14.6 copies/1,000 cells). No other normal tissues were BKV-positive by QPCR. The 6 BKV-positive tissues by QPCR were also positive by conventional PCR, but all stained negative for BKV T-Ag by immunohistochemistry. BKV is unlikely to be involved in the etiology of most bladder tumors.

Aged↗

PubMed2004

A meta-analysis of the published research on the affective, cognitive, and behavioral effects of corporal punishment.

The present study is a meta-analysis of the published research on the effects of corporal punishment on affective, cognitive, and behavioral outcomes. The authors included 70 studies published between 1961 and 2000 and involving 47,751 people. Most of the studies were published between 1990 and 2000 (i.e., 53 or 68%) and were conducted in the United States (65 or 83.3%). Each of the dependent variables was coded, and effect sizes (ds) were computed. Average unweighted and weighted ds for each of the outcome variables were .35 and .20 for affective outcomes, .33 and .06 for cognitive outcomes, and .25 and .21 for behavioral outcomes, respectively. The analyses suggested small negative behavioral and emotional effects of corporal punishment and almost no effect of such punishment on cognition. Analyses of several potentially moderating variables, such as gender or socioeconomic status, and the frequency or age of first experience of corporal punishment, the relationship of the person administering the discipline, and the technique of the discipline all had no affect on effect size outcome. There was insufficient data about a number of the moderator variables to conduct meaningful analyses. The results of the present meta-analysis suggest that exposure to corporal punishment does not substantially increase the risk to youth of developing affective, cognitive, or behavioral pathologies.

Affect↗

PubMed2000

An IL13 coding region variant is associated with a high total serum IgE level and atopic dermatitis in the German multicenter atopy study (MAS-90).

BACKGROUND: Allergic diseases are one of the major causes of morbidity in the developed countries today, and the prevalence of these diseases is increasing steadily. Study of total serum gE level is important in understanding the genetics of allergic iseases because IgE levels are considered to be a crucial pathogenic component. IL-13 plays an important role in the induction of IgE synthesis and in the pathogenesis of allergic diseases. OBJECTIVE: We sought to examine potential variation at the IL13 gene and estimate its effect on elevated IgE level and atopic dermatitis (AD). METHODS: We conducted mutational analyses of the IL13 gene by using single-stranded conformation polymorphism and DNA sequencing. Case control studies for high-IgE phenotype and AD were performed by using subjects from the German MAS-90 cohort. RESULTS: A novel IL13 coding region variant at 4257 bp (G to A, fourth exon) was identified. Case control studies of a German sample from the MAS-90 cohort showed significant associations between the presence of the A allele and two atopic phenotypes: high IgE (odds ratio, 2.38; 95% confidence interval, 1.35-4.21; P =.0026) and AD (odds ratio, 1.77; 95% confidence interval, 1.06-2.96; P =.03). CONCLUSION: This IL13 coding region variant may be involved in the pathogenesis of AD and high total serum IgE level in a study population of white subjects.

Chromosomes, Human, Pair 5↗

PubMedDate not supplied

Factors influencing the return rate in a direct mail campaign to inform minority women about prevention of cervical cancer.

The Forsyth County Cervical Cancer Prevention Project was a 5-year community-based health education program funded by the National Cancer Institute. The program was developed to reduce cervical cancer mortality among black women in Forsyth County, and it was targeted to those ages 18 and older. The program tried to educate the target population through a combination of mass media and direct education. This paper reports on an experiment conducted to investigate sources of influence on the effectiveness of direct mail, a technique used to augment mass media health education. Direct mail has shown promise as a method for reaching target populations that are difficult to reach with other mass media approaches. Using commercially prepared mailing lists sorted by zip code and other characteristics of the resident, health-related materials can be targeted to persons at their homes. A randomized experiment involving 1,000 households was carried out to estimate the influence of type of postage and address (name versus "resident or occupant") on the response rate to direct mail. Results indicated that there was no significant advantage from use of first class over bulk rate postage, but the return was significantly greater when the envelope bore a name rather than "resident or occupant."

Adult↗

PubMed2000

Is the 5-HT(1Dbeta) receptor gene implicated in the pathogenesis of obsessive-compulsive disorder?

OBJECTIVE: Obsessive-compulsive disorder (OCD) is a psychiatric condition for which strong evidence of a genetic component and serotonergic system involvement exists. Recent studies have shown that sumatriptan, a selective ligand of the serotonin (5-HT)(1Dbeta) autoreceptor, modifies OCD symptoms. The aim of this study was to investigate the presence of linkage disequilibrium between the 5-HT(1Dbeta) receptor gene, which has a variant caused by a silent G to C substitution at nucleotide 861 of the coding region, and OCD. METHOD: DNA was collected from 67 probands who met DSM-IV criteria for OCD and from their living parents or siblings. Transmission Disequilibrium Test/sib-Transmission Disequilibrium Test analyses were then conducted with the DNA data. RESULTS: Thirty-two families were informative for the analysis, which showed a preferential transmission of the G allele to the affected subjects. CONCLUSIONS: If the results are confirmed, there may be important implications for the 5-HT(1Dbeta) receptor gene in the pathogenesis and treatment of OCD.

Adult↗

PubMed2001

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis (CF) patients worldwide, and an enormous wealth of information concerning the structure and function of the protein has also been accumulated. These data, if evaluated together in a sequence comparison of all currently available CFTR homologs, are likely to refine the global structure-function relationship of the protein, which will, in turn, facilitate interpretation of the identified mutations in the gene. Based on such a combined analysis, we had recently defined a "functional R domain" of the CFTR protein. First, presenting two full-length cDNA sequences (termed sCFTR-I and sCFTR-II) from the Atlantic salmon (Salmo salar) and an additional partial coding sequence from the eastern gray kangaroo (Macropus giganteus), this study went further to refine the boundaries of the two nucleotide-binding domains (NBDs) and the COOH-terminal tail (C-tail), wherein NBD1 was defined as going from P439 to G646, NBD2 as going from A1225 to E1417, and the C-tail as going from E1418 to L1480. This approach also provided further insights into the differential roles of the two halves of CFTR and highlighted several well-conserved motifs that may be involved in inter- or intramolecular interactions. Moreover, a serious concern that a certain fraction of missense mutations identified in the CFTR gene may not have functional consequences was raised. Finally, phylogenetic analysis of all the full-length CFTR amino acid sequences and an extended set of exon 13--coding nucleotide sequences reinforced the idea that the rabbit may represent a better CF model than the mouse and strengthened the assertion that a long-branch attraction artifact separates the murine rodents from the rabbit and the guinea pig, the other Glires.

Amino Acid Motifs↗

PubMed2002

Pharmacogenetic analysis of adverse drug effect reveals genetic variant for susceptibility to liver toxicity.

A retrospective pharmacogenetic study was conducted to identify possible genetic susceptibility factors in patients in whom the administration of the anti-Parkinson drug, tolcapone (TASMAR), was associated with hepatic toxicity. We studied 135 cases of patients with elevated liver transaminase levels (ELT) of >/=1.5 times above the upper limit of normal, in comparison with matched controls that had also received the drug but had not experienced ELT. DNA samples were genotyped for 30 previously described or newly characterized bi-allelic single nucleotide polymorphisms (SNPs), representing 12 candidate genes selected based on the known metabolic pathways involved in the tolcapone elimination. SNPs located within the UDP-glucuronosyl transferase 1A gene complex, which codes for the enzymes involved in the main elimination pathway of the drug, were found to be significantly associated with the occurrence of tolcapone-associated ELTs.

Benzophenones↗

PubMed2005

Cross-cultural perspectives on research participation and informed consent.

This study examined Portuguese Canadian and Caribbean Canadian immigrants' perceptions of health research and informed consent procedures. Six focus groups (three in each cultural group) involving 42 participants and two individual interviews were conducted. The focus groups began with a general question about health research. This was followed by three short role-plays between the moderator and the assistant. The role-plays involved a fictional health research study in which a patient is approached for recruitment, is read a consent form, and is asked to sign. The role-plays stopped at key moments at which time focus group participants were asked questions about their understanding and their perceptions. Focus group transcripts were coded in QSR NUDIST software using open coding and then compared across cultural groups. Six overriding themes emerged: two were common in both the Portuguese and Caribbean transcripts, one emphasized the importance of trust and mistrust, and the other highlighted the need and desire for more information about health research. However, these themes were expressed somewhat differently in the two groups. In addition, there were four overriding themes that were specific to only one cultural group. In the Portuguese groups, there was an overwhelming positive regard for the research process and an emphasis on verbal as opposed to written information. The Caribbean participants qualified their participation in research studies and repeatedly raised images of invasive research.

Adult↗

PubMedDate not supplied

Nurse-physician communication during labor and birth: implications for patient safety.

OBJECTIVE: To describe communication between nurses and physicians during labor within the context of the nurse-managed labor model in community hospitals and its relationship to teamwork and patient safety. DESIGN: Multicenter qualitative study involving focus groups and in-depth interviews. SETTING: Labor and birth units in 4 Midwestern community hospitals. PARTICIPANTS: 54 labor nurses and 38 obstetricians. METHODS: Focus groups and in-depth interviews were conducted using open-ended questions. Data were analyzed using inductive coding methods to gain understanding from the perspective of those directly involved. MAIN OUTCOME MEASURES: Description of interdisciplinary interactions during labor. RESULTS: Nurses and physicians shared the common goal of a healthy mother and baby but did not always agree on methods to achieve that goal. Two clinical situations critical to patient safety (fetal assessment and oxytocin administration) were frequent areas of disagreement and sources of mutual frustration, often leading to less than optimal teamwork. Minimal communication occurred when the mother and fetus are doing well, and this seemed to be purposeful and considered normal. Physicians and nurses had distinct opinions concerning desirable traits of members of the other discipline. CONCLUSIONS: Interdisciplinary communication and teamwork could be improved to promote a safer care environment during labor and birth.

Attitude of Health Personnel↗

PubMed2024

High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families.

PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

Humans↗

PubMed1997

Detection of two new polymorphic sites in the human interleukin-1 beta gene: lack of association with schizophrenia in a French population.

The pathogenesis of schizophrenia might involve abnormal development of the human brain. Interleukin-1 beta is a cytokine implicated in the development of the central nervous system and therefore its gene is a candidate gene in schizophrenia. Polymorphisms within the coding sequence and the 3'UTR of the IL1 beta gene were searched for using PCR-SSCP. Two polymorphisms, 1B-175/1B-173 and 1B-1765/1B-1763 were found in addition to the previously published TaqI site. Furthermore, a mutant was found in codon 106 (exon 5) of the IL1 beta gene located next to the published polymorphism at the TaqI site and abolishing this site. This novel mutation encodes an Asp in place of an Asn and was only observed in one patient in our French population. Association studies were conducted with the polymorphisms 1B-175/1B-173 and TaqI. There was no allelic or genotypic association between either of the two polymorphisms and schizophrenia. In our population, there is no evidence that the IL1 beta gene is involved in schizophrenia.

Adult↗

PubMed2004

Participation as an expression of patient uncertainty: an exploration of bowel cancer consultations.

AIMS: The paper explores the factors that influence patient involvement in treatment decision-making. METHODS: An observation study of 49 new consultations between oncologists and recently diagnosed bowel cancer patients was conducted at a regional cancer centre in the South West of England. The dialogue was recorded verbatim during each consultation and transcribed. The data were coded into relevant themes and analysed using the constant comparison method. RESULTS: A significant minority (23 out of 49) of patients were involved to varying degrees in decision-making. 'Active' involvement usually resulted from: (1) conflicting expectations between the doctor and the patient about the most appropriate treatment; (2) unexpected information; (3) issues related to treatment costs and benefits and (4) the lack of a clear treatment recommendation from the oncologist. CONCLUSION: The informed consent procedure requests that full information is provided to patients about their condition and its treatment, although there is no parallel requirement to offer an interpretation of the information. In order to help patients make optimal decisions regarding treatment, oncologists need to provide an adequate level of information as well as interpretation to patients about the pros and cons of treatment.

Adult↗