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 217 records · Page 12Linked to original sources

PubMed1997

Hepatitis C virus in pelvic lymph nodes and female reproductive organs.

Based on epidemiological evidence, hepatitis C virus (HCV) is thought to be involved in the etiology of not only hepatocellular carcinoma, but also lymphoproliferative diseases. In addition, our previous studies using recently developed cell culture systems that support HCV replication have indicated that HCV possesses both hepatotropism and lymphotropism. To determine whether HCV is present in extrahepatic organs, we conducted semi-quantitative reverse transcription-polymerase chain reaction for the 5' non-coding region of the HCV genome in surgical specimens (lymph nodes, ovary, uterus, peripheral blood mononuclear cells [PBMCs] and serum) from three patients with gynecological cancer. We found relatively high HCV genome titers in the lymph nodes, not in the sera, irrespective of various titers in PBMCs. These results suggest that lymph nodes may play an important role in the carrier state and the persistence of HCV infection. Moreover, contrary to expectation, high titers of the HCV genome were observed in the ovaries and the uteri, suggesting the feasibility of mother-to-infant and spouse-to-spouse transmissions of HCV.

Adult↗

PubMed2004

Does KCNE5 play a role in long QT syndrome?

BACKGROUND: Long QT syndrome [LQTS] is a congenital cardiac disease characterised by prolonged QTC-time, syncopes and sudden cardiac death. LQTS is caused by mutations in genes coding for ion channels involved in the action potential. KCNE5 codes for a novel beta-subunit of the ion channel conducting the delayed rectifier repolarizing current IKs. As KCNE5 is expressed in the human heart and suppresses the IKs current in heterologous systems, it is a candidate gene that may be mutated in LQTS families where no causative mutations in known LQTS associated genes have been found. We examined whether this was the case. METHODS: Genomic DNA from LQTS patients [n=88] and normal controls [n=90] was screened for mutations in KCNE5 by endonuclease-enhanced single strand conformation polymorphism analysis [EE-SSCP], and DNA sequencing of aberrant conformers. Mutations in other LQTS associated ion channels were excluded by SSCP. RESULTS: No mutations were found in the coding region of the KCNE5 gene in LQTS patients. One polymorphism, a T-to-C transition at nucleotide 97, causing an amino acid polymorphism P33S, was present in 16 persons, nine heterozygotes and seven homozygotes. The T-allele frequency was 0.13 in LQTS patients and 0.10 in controls.

Action Potentials↗

PubMed2006

Strategies to improve the performance of learners in a nursing college. Part II: Issues pertaining to management, attitudes and values.

UNLABELLED: This article forms part two of a bigger study that was conducted in a nursing college to explore and describe the reasons for the poor performance of learners. Part one of the study dealt with the issues pertaining to education, while this article (part two) seeks to describe issues pertaining to management, attitudes and values that lead to the poor performance of learners in the nursing college under study. A qualitative, exploratory and descriptive design that was contextual in nature was employed, and three focus groups interviews were conducted. Seven tutors formed one group while other two groups were formed by fourth-year learners following a comprehensive diploma course. All participants voluntarily participated in the study. Data was analyzed using the descriptive method of open coding in accordance with Tesch's protocol (in Creswell, 1994:154-156). Trustworthiness was ensured using the following principles: credibility, conformability, transferability and dependability (Lincoln & Guba 1985:290-326). Findings were categorized into issues pertaining to management, attitudes and values that had an influence on the poor performance of learners as follows: MANAGEMENT: Inadequate resources and study facilities; policies that change frequently; tutors' dissatisfaction with regard to staff development, the lack of involvement by management and lack of management support, staff shortage and maldistribution of staff members; ineffective selection process of learners; inconsistent regulations, and too many of them; policies and procedures resulting in confusion and poor discipline. Attitudes and values: Tutors' lack of motivation and interest, lack of respect by learners and no team work among tutors. Through a conceptualization process and the recommendations by participants, strategies to improve the learners' performance were described. It is recommended that these strategies be submitted to the staff development committee for implementation and future follow-up research be undertaken to determine the effectiveness of the strategies. It is also recommended that other nursing colleges replicate the study within their context.

Attitude↗

PubMed1989

Giant-cell arteritis in the southern United States. An 11-year retrospective study from the Texas Gulf Coast.

Giant-cell arteritis (GCA) and polymyalgia rheumatica are systemic disorders that reportedly affect primarily white women older than age 50 years. We conducted an 11-year chart review to determine the relative occurrence and pattern of demographic involvement of GCA in the Gulf Coast region of the United States. Of 101,239 computer-coded entries for individual patients aged 40 years or older, 60 charts listed GCA as a differential diagnosis. Twenty-seven patients had temporal GCA; 21 temporal artery biopsy specimens were identified. Two patients had associated systemic GCA (one with aortitis). A striking finding was that 13 of the 27 patients were black women (about 50% of the entire study population). The group with GCA and polymyalgia rheumatica (17 patients) had a significantly higher mean erythrocyte sedimentation rate than the group with "pure" GCA. Jaw claudication and blindness were rare. We concluded that temporal GCA seems relatively uncommon in the Gulf Coast region and in the southern United States as a whole. Furthermore, GCA seems rare in Hispanics (only one patient identified). Nonetheless, this is the first report to document a proportionally high occurrence of GCA in black patients in this part of the country.

Adult↗

PubMed2001

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.

In order to investigate the incidence of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and unclassified variants in chronic pulmonary disease in children and adults, we studied 20 patients with asthma, 19 with disseminated bronchiectasis (DB) of unknown aetiology, and 12 patients with chronic obstructive pulmonary disease (COPD), and compared the results to 52 subjects from the general Greek population. Analysis of the whole coding region of the CFTR gene and its flanking intronic regions revealed that the proportion of CFTR mutations was 45% in asthma (P<0.05), 26.3% in DB (P>0.05), 16.7% in COPD (P>0.05), compared to 15.4% in the general population. Seventeen different molecular defects involved in disease predisposition were identified in 16 patients. Three potentially disease-causing mutations, T388 M, M1R and V11I, are novel, found so far only in three asthma patients. The hyperactive M470 allele was found more frequently in COPD patients (frequency 70.8%, P<0.01) than in the controls. The study of the TGmTnM470 V polyvariant CFTR allele revealed the presence of CFTR function-modulating haplotypes TG13/T5/M470, TG11/T5/M470, TG12/T5/V470 and TG12/T7, combined with M470 or V470, in six asthma patients, four DB patients (P<0.01), and two COPD patients (P<0.05). These results confirm the involvement of the CFTR gene in asthma, DB and possibly in COPD.

Adolescent↗

PubMed1996

The inward rectification mechanism of the HERG cardiac potassium channel.

A human genetic defect associated with 'long Q-T syndrome', an abnormality of cardiac rhythm involving the repolarization of the action potential, was recently found to lie in the HERG gene, which codes for a potassium channel. The HERG K+ channel is unusual in that it seems to have the architectural plan of the depolarization-activated K+ channel family (six putative transmembrane segments), yet it exhibits rectification like that of the inward-rectifying K+ channels, a family with different molecular structure (two transmembrane segments). We have studied HERG channels expressed in mammalian cells and find that this inward rectification arises from a rapid and voltage-dependent inactivation process that reduces conductance at positive voltages. The inactivation gating mechanism resembles that of C-type inactivation, often considered to be the 'slow inactivation' mechanism of other K+ channels. The characteristics of this gating suggest a specific role for this channel in the normal suppression of arrhythmias.

Animals↗

PubMed1999

Frequent aberration of the transforming growth factor-beta receptor II gene in cell lines but no apparent mutation in pre-invasive and invasive carcinomas of the uterine cervix.

The type II transforming growth factor-beta (TGF-beta) receptor (RII) gene located at 3p22 plays an important role in regulating growth and differentiation of epithelium, including that of the uterine cervix. Loss-of-function mutations of RII have frequently been found in gastrointestinal cancers, with a replication-error (RER) phenotype characterized by the presence of microsatellite instability (MI). In this study, genomic PCR, SSCP and DNA sequencing were conducted to investigate the coding sequences of the RII gene in cell lines (n = 5) and tissues (n = 15) of squamous carcinomas of the uterine cervix. Intragenic deletions were noted in 2 of 5 cervical-cancer cell lines (ME180 and HeLa cells). However, no mutation, other than DNA polymorphisms, was found in 15 cervical cancers with either alleleic loss at 3p22 (n = 11) or MI (n = 4). Further analysis of squamous intraepithelial lesions (SIL) with (n = 12) or without (n = 4) MI for the (A)10 change, a prototypic mutation found in over 90% of RER-positive colon cancers, also showed no aberration. Our study concludes that the RII gene is frequently disrupted in cervical-cancer cell lines, but is rarely mutated in CC and SIL tissues, including those showing MI or alleleic loss at 3p22. The underlined mechanism of genomic instability in CC and SIL may thus differ from that of colorectal cancer. The allelic loss at 3p22-24 in CC does not involve the coding sequence of the RII gene. The non-coding sequence of RII or an unidentified gene may be responsible for it.

Carcinoma, Squamous Cell↗

PubMed2005

The epidemiology of molluscum contagiosum in children.

Molluscum contagiosum (MC) is a viral disorder of the skin and mucous membranes characterized by discrete single or multiple, flesh-colored papules. Although MC as a clinical entity is well defined and commonly observed, few data regarding its epidemiology in the pediatric population exist. Our purpose was to collect epidemiologic data on children with MC with regard to age, gender, ethnicity, degree of involvement, relation to pre-existing atopic dermatitis (AD), and immune status. A retrospective chart review was conducted. All subjects were seen at 3 tertiary pediatric dermatology referral centers with two of the sites based at a Children's Hospital. A total of 302 patient charts with the Current Procedural Terminology code diagnosis of MC seen over a 6- to 8-month period were reviewed. Approximately 80% of the patients were younger than 8 years old. The majority of patients (63%) had more than 15 lesions. All but one patient were otherwise healthy, as determined by history and clinical examination. Approximately 24% of the patients presented with a history of previous or active coexistent AD. However, children with AD were at risk for an increased number of lesions. These data provide valuable updated information on the demographics and clinical presentation of MC in pediatric patients in the United States. Limitations include that this was a retrospective study with a population limited to tertiary pediatric dermatology referral centers.

Age Distribution↗

PubMed1995

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with CBAVD, who are otherwise healthy. We have identified four novel missense mutations (A800G, G149R, R258G, and E193K). We have shown that 42% of subjects were carriers of one CFTR allele and that 24% are compound heterozygous for CFTR alleles. Thus, we have been unable to identify 76% of these patients as carrying two CFTR mutations. Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier (delta F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD.

Alleles↗

PubMed2000

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

OBJECTIVE: To evaluate the degree of possible peripheral nervous system (PNS) involvement in addition to CNS manifestations in Salla disease, a free sialic acid storage disorder leading to severe mental retardation with a wide clinical variation. BACKGROUND: Salla disease is a lysosomal storage disorder that affects the white matter of the CNS. MRI findings and recent 1H MRS study results provide evidence for delayed central myelination, but there is no previous evidence for PNS involvement in this disease. The gene coding for a presumptive sialic acid transport protein has recently been identified, and the first disease-causing mutations have been characterized. METHODS: Nerve conduction studies; evoked potentials to visual (VEP), brainstem auditory (BAEP), and somatosensory stimuli (SEP); and EEG were carried out on 22 patients (age range 2 months to 57 years) with biochemically and genetically confirmed Salla disease. Brain MRI were available on 14 patients. RESULTS: Nerve conduction studies revealed abnormalities in nearly half of the patients (10/21). The four severely disabled patients and the oldest patient had greatly reduced nerve conduction velocities and prolonged distal latencies compatible with demyelinating polyneuropathy. In addition, SEP was abnormal in the majority of the patients, but VEP and BAEP in only a few cases. PNS involvement was clearly associated with both the phenotypic severity and MRI findings. CONCLUSIONS: The results indicate that dysmyelination in Salla disease occurs not only in the CNS but also in the peripheral nervous system, contributing to the phenotypic variation, which can now be correlated with the molecular basis of the disease.

Adolescent↗

PubMed2003

E-oncology and health portals: instructions and standards for the evaluation, production organisation and use.

In 2002 the Italian Ministry of Health promoted the institution of a network and a web portal, E-oncology (2), for the seven NHS research institutions specialising in oncology (Istituti di Ricovero e Cura a Carattere Scientifico-IRCCS). One of the aims was to gather and provide information on tumoral pathologies to operators and the public. For an optimum organisation of a health web site it is necessary to comply with the standards internationally used. The World Wide Web Consortium (W3C) has developed guidelines for accessibility and usability of the sites, implemented in Italy through governmental issues. Many international organisations adopt rules and codes of conduct to validate biomedical information and have organised quality portals such as NLM, OMNI, MEDCIRCLE, HON etc. Some terminological standards, such as the MESH thesaurus and UMLS, have been produced by the libraries for a correct management and an effective information retrieval, and are currently used by the most important biomedical web sites. The Dublin Core, metadata standard for the integration of information deriving from heterogeneous archives, has also been developed by the libraries. The easy access to information dims the complex architecture necessary for the construction of a web site. The contribution of different professionals is necessary to guarantee the production of quality medical/health web sites, among them librarians have always been involved with the management of knowledge and their skills are extremely valuable. Furthermore, the libraries' network is essential in order to guarantee universal access to health information, mostly still against payment, and to contribute to overcoming the 'digital divide' and 'second-level digital divide'.

Evaluation Studies as Topic↗

PubMedDate not supplied

Pathways to dementia diagnosis: evidence for cross-ethnic differences.

UNLABELLED: The diagnosis of dementia often occurs well after the onset of the disease. Studies of help-seeking behavior may help illuminate why delays occur. SPECIFIC AIMS: (1) To describe pathways to diagnosis from the perspective of family caregivers and (2) to compare help-seeking patterns and experiences across three ethnic groups. METHODS: Semi-structured qualitative interviews were conducted with 39 ethnically diverse family dementia caregivers. Interviews were coded for help-seeking events (initial help-seeking, referrals to secondary helpers, and site of final diagnosis), pathway types, and adverse experiences within the healthcare system along pathways to diagnosis. RESULTS: Help-seeking was most often initiated by family members or formal care providers (ie, healthcare providers or social workers), usually in outpatient primary care settings but also elsewhere (eg, social service agencies, hospitals). "Secondary" formal helpers were often involved, usually through self-referral by families rather than by healthcare providers. While most families reported receiving a "final" diagnosis, a small minority of predominantly Chinese-American families did not. Four distinct pathways to diagnosis were identified and found to vary significantly (p < 0.03) across the three ethnic groups, which we label as smooth pathways, crisis events pathways, fragmented pathways, and dead-end pathways. Adverse experiences in the healthcare system were common and included unsatisfactory diagnosis disclosure and explanation, inadequate workup, uncaring or insensitive attitude, language barriers, and discrimination. CONCLUSIONS: Cross-ethnic differences were found in both pathway types and in adverse experiences.

Adult↗

PubMed2003

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

BACKGROUND: The first locus for demyelinating autosomal recessive Charcot-Marie-Tooth (ARCMT) disease was identified in 8q13, where mutations in GDAP1 have been found. Mutations in the same gene have been detected in families with axonal ARCMT disease. OBJECTIVE: To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease associated with the S194X mutation in the GDAP1 gene. METHODS: Four patients from a consanguineous Moroccan family were examined clinically and electrophysiologically. In one patient, a morphometric and ultrastructural study of a peroneal nerve biopsy sample was performed. Mutation in the coding region of the GDAP1 gene was identified by direct sequencing. RESULTS: Neuropathy was evident early in childhood, walking was delayed in one patient, and onset of symptoms occurred before 18 months in the others. The phenotype was severe: foot deformities and disabilities involving the hands and feet developed toward the end of the first decade, followed by involvement of proximal muscles in the lower limbs, leading to loss of autonomy. Electrophysiologic findings were consistent with an axonal form of CMT disease: motor nerve conduction velocities, recordable in one patient only, were greater than 40 m/sec. Sensory nerve action potentials were either abolished or substantially reduced in amplitude. The morphologic data supported the diagnosis of axonal neuropathy, showing a marked reduction in myelinated fibers and signs of axonal regeneration, including frequent pseudo-onion bulb formations. The 4 patients in this family were homozygous for the S194X mutation in the GDAP1 gene. CONCLUSION: Electrophysiologic and pathological findings support the hypothesis of an axonal disorder in this ARCMT family with the S194X mutation in the GDAP1 gene.

Adolescent↗

PubMed2004

Unsupervised firearm handling by California adolescents.

OBJECTIVE: Relatively little is known about the behavior of adolescents around firearms. The present investigation was undertaken to estimate the proportion of community-residing adolescents who report that they have ever handled a gun without adult knowledge or supervision. METHODS: A random digit dial interview was conducted with 5801 California adolescents as part of the California Health Interview Survey. Respondents were asked whether they have ever held a gun and whether they have ever done so without adult knowledge or supervision. Study design and population weights were applied to these data. In addition, adolescents' reports about the most recent unsupervised handling incident were coded to ascertain what they were doing with the gun as well as with whom and where the incident occurred. RESULTS: One third (33%) of California adolescents report that they have handled a firearm; 5% report that they have done so without adult knowledge or supervision. Half (49%) of all unsupervised handling involved shooting and only 11% occurred in the respondent's home. Several demographic variables (being male, African American, living in a rural area) and risk behaviors (smoking, drinking, being the victim of a gun related threat), as well as having a gun in the home and parents not knowing the adolescent's whereabouts in the afternoon were each associated with unsupervised gun handling. CONCLUSIONS: Unsupervised gun handling is associated with other health risk behaviors. Unsupervised gun handling typically involves shooting the gun and usually occurs with friends, away from the home.

Accidents, Home↗

PubMed2004

Genetic polymorphisms and susceptibility to childhood acute lymphoblastic leukemia.

Acute lymphoblastic leukemia (ALL) is the most common form of pediatric cancer. Although exposure to environmental agents appears to predispose individuals to this disease, little attention has been paid to the role of genetic susceptibility to environmental exposures in the etiology of childhood ALL. The enzymes GSTM1, GSTT1, GSTP1, CYP1A1, and CYP2E1 are involved in the bioactivation and detoxification of a variety of xenobiotics present in food, organic solvents, tobacco smoke, drugs, alcoholic drinks, pesticides, and environmental pollutants. Polymorphisms in the genes coding for these enzymes have been associated with increased susceptibility to different cancers, including hematologic malignancies. To investigate whether these polymorphisms represent risk-modifying factors for childhood ALL, a study was conducted involving 113 Brazilian patients of childhood ALL and 221 controls with similar ethnic backgrounds. The data revealed that carriers of the rare GSTP1 Val allele were at higher risk of ALL (odds ratio [OR] = 2.7; 95% confidence interval [CI] = 1.1-6.8; P = 0.04). No difference was found in the prevalence of the GSTM1 and GSTT1 null genotypes between ALL patients and the controls, and no association was found between CYP1A1*2 and CYP2E1*3 variants and ALL. However, when the mutant CYP1A1 and CYP2E1 alleles were considered together with the GSTM1 and GSTP1 risk-elevating genotypes, the risk of ALL was increased further (OR = 10.3; 95% CI = 1.0-111.8; P = 0.05), suggesting a combined effect. These results imply that genetic variants of xenobiotic metabolizing genes influence the risk of developing childhood ALL.

Adolescent↗

PubMed2003

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

Split hand-split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least five loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients. We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations. However, Southern, pulsed field gel electrophoresis and dosage analyses demonstrated a complex rearrangement associated with a approximately 0.5 Mb tandem duplication in all the patients. The distal and proximal breakpoints were within an 80 and 130 kb region, respectively. This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed.

Abnormalities, Multiple↗

PubMed2005

Deterministic vs. probabilistic analyses to identify sensitive parameters in dose assessment using RESRAD.

The dose assessments for sites containing residual radioactivity usually involve the use of computer models that employ input parameters describing the physical conditions of the contaminated and surrounding media and the living and consumption patterns of the receptors in analyzing potential doses to the receptors. The precision of the dose results depends on the precision of the input parameter values. The identification of sensitive parameters that have great influence on the dose results would help set priorities in research and information gathering for parameter values so that a more precise dose assessment can be conducted. Two methods of identifying site-specific sensitive parameters, deterministic and probabilistic, were compared by applying them to the RESRAD computer code for analyzing radiation exposure for a residential farmer scenario. The deterministic method has difficulty in evaluating the effect of simultaneous changes in a large number of input parameters on the model output results. The probabilistic method easily identified the most sensitive parameters, but the sensitivity measure of other parameters was obscured. The choice of sensitivity analysis method would depend on the availability of site-specific data. Generally speaking, the deterministic method would identify the same set of sensitive parameters as the probabilistic method when 1) the baseline values used in the deterministic method were selected near the mean or median value of each parameter and 2) the selected range of parameter values used in the deterministic method was wide enough to cover the 5th to 95th percentile values from the distribution of that parameter.

Agriculture↗

PubMed2005

Variations among Institutional Review Board reviews in a multisite health services research study.

OBJECTIVE: To document the Institutional Review Board (IRB) review process and to explore the impact of different patient notification procedures. DATA SOURCES/STUDY SETTING: Review of IRB application and correspondence records prospectively collected during a multisite study of health care quality involving telephone interviews of 3,000 participants across 15 primary care sites. STUDY DESIGN: Records were reviewed to ascertain: (1) the type of IRB review conducted, (2) the number of days from submission to approval of the IRB application, (3) whether the IRB required patient notification and/or consent prior to the release of names, and (4) patient participation rates. DATA COLLECTION/EXTRACTION METHODS: The study coordinating center prepared a common study protocol for IRB submission and assisted sites with submission. The application, correspondence with the IRB, consent script, and patient letters were collected, reviewed, coded, and analyzed. PRINCIPAL FINDINGS: IRBs at the 15 sites and survey center varied in the type of IRB required and the number of days from submission to approval (range of 5-172 days). Four sites required patient notification in advance of the study; 2-11 percent of patients refused in opt-out sites and 37 percent in the single opt-in site. Participation among contacted patients did not appear to be related to patient notification procedures. CONCLUSIONS: Variations in IRB requirements can affect response rates and sample generalizability.

Adult↗