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Biomedical subjects

J C Beck

Publications and source records attributed to J C Beck.

At least 37 records · Page 2Linked to original sources

The Geriatric Pain Measure: validity, reliability and factor analysis.

BACKGROUND: Pain is a multidimensional experience that should be evaluated beyond an estimate of intensity. A multidimensional pain measure has not been developed for older persons undergoing comprehensive geriatric assessment. OBJECTIVE: To develop and evaluate validity and reliability of a multidimensional pain assessment instrument for older persons. RESEARCH DESIGN: A series of steps in instrument development and evaluation. SUBJECTS: A total of 176 subjects (mean age 84 +/- 6.0 years) in ambulatory geriatric clinics; 64% were women, and 73% had a history of chronic pain. MEASUREMENTS: Measurements included the Geriatric Pain Measure (GPM), the McGill Pain Questionnaire, Yesavage GDS, Katz ADLs, Lawton IADLs, Tinetti Gait and Balance, Folstein MMSE, and other demographic and clinical characteristics from interview and chart review. RESULTS: The GPM demonstrated a standardized alpha = 0.9445, homogeneity ratio =0.457, and average inter-item correlation =0.415. A subgroup of 50 subjects demonstrated concurrent validity of the GPM in comparison with the McGill Pain Questionnaire (Pearson's r correlation 0.6269 (P < .0000). Test-retest reliability was demonstrated in another subgroup of 50 subjects who repeated the GPM within 48 to 72 hours (Pearson's r = 0.9018; P < .0000). Factor analysis revealed five clusters of components: Pain Intensity, Disengagement, Pain with Ambulation, Pain with Strenuous Activities, and Pain with Other Activities. CONCLUSIONS: The GPM is a 24-item questionnaire that is easy to administer and has significant validity and reliability in older persons with multiple medical problems. The GPM may be a useful addition to the multidimensional geriatric assessment process.

Activities of Daily Living↗

Workplace violence and psychiatric practice.

The authors provide an overview of what is known about workplace violence and discuss how to deal with issues of workplace violence that arise in clinical practice. They review myths and facts about workplace violence, including research on prevention. Legal issues relating to the psychiatrist as employer and the Americans with Disability Act are presented. General principles of violence assessment are reviewed and the authors then discuss the psychiatrist as consultant to the workplace and as clinician treating a victim or perpetrator of workplace violence. Three cases illustrate the general principles provided.

Adult↗

An autosomal genomic screen for autism. Collaborative linkage study of autism.

Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:609-615, 1999.

Adolescent↗

Pediatric myofibromatosis of the head and neck.

OBJECTIVES: To examine the clinical and pathological features of pediatric myofibroma of the head and neck and to discuss the challenges in diagnosis and treatment. DESIGN: A retrospective search of pathology department and clinical records to identify patients with myofibroma and a retrospective review of English-language medical publications. SETTING: Academic medical center. PATIENTS: Thirteen pediatric patients (aged from birth to 8 years old) diagnosed as having myofibroma of the head and neck. RESULTS: Nine of 13 patients were cured with conservative surgical excision. Four patients (31%) had recurrence, requiring multiple surgical procedures. One third showed spontaneous regression clinically or by histological examination. The clinical course did not parallel the histological appearance, as high cellularity and mitotic figures were commonplace among the specimens. A misdiagnosis of malignancy was not unusual in this series, as 3 patients had an initial diagnosis of fibrosarcoma, which on review was revised to myofibroma. CONCLUSIONS: Myofibromatosis is a distinct disorder among the great number of fibrous proliferations occurring in infants and children, with a particular predilection for the head and neck region. These lesions should be clearly distinguished from conventional adult-type fibromatoses (desmoid tumors), which are more aggressive. Most patients have solitary lesions that respond well to conservative surgical excision, whereas a few of these lesions behave more aggressively, requiring several surgical procedures for the management of recurrent or persistent tumor. Many of these lesions show spontaneous regression, suggesting that lesions not affecting vital functions, resulting in growth anomalies, or demonstrating rapid aggressive growth may be managed conservatively.

Biomarkers, Tumor↗

Risk factors for functional status decline in community-living elderly people: a systematic literature review.

To lay the groundwork for devising, improving and implementing strategies to prevent or delay the onset of disability in the elderly, we conducted a systematic literature review of longitudinal studies published between 1985 and 1997 that reported statistical associations between individual base-line risk factors and subsequent functional status in community-living older persons. Functional status decline was defined as disability or physical function limitation. We used MEDLINE, PSYCINFO, SOCA, EMBASE, bibliographies and expert consultation to select the articles, 78 of which met the selection criteria. Risk factors were categorized into 14 domains and coded by two independent abstractors. Based on the methodological quality of the statistical analyses between risk factors and functional outcomes (e.g. control for base-line functional status, control for confounding, attrition rate), the strength of evidence was derived for each risk factor. The association of functional decline with medical findings was also analyzed. The highest strength of evidence for an increased risk in functional status decline was found for (alphabetical order) cognitive impairment, depression, disease burden (comorbidity), increased and decreased body mass index, lower extremity functional limitation, low frequency of social contacts, low level of physical activity, no alcohol use compared to moderate use, poor self-perceived health, smoking and vision impairment. The review revealed that some risk factors (e.g. nutrition, physical environment) have been neglected in past research. This review will help investigators set priorities for future research of the Disablement Process, plan health and social services for elderly persons and develop more cost-effective programs for preventing disability among them.

Activities of Daily Living↗

Regional mapping panels for human chromosomes 1, 2, and 7.

The NIGMS Human Genetic Cell Repository has assembled regional mapping panels for human chromosomes 1, 2, and 7 from human rodent somatic cell hybrids submitted to the collection by researchers from 14 different laboratories. All hybrids were characterized initially by the submitters and verified by the Repository. Each hybrid carries a stable defined human segment as a derivative or deletion chromosome. These panels define 8-10 intervals for each chromosome. The panel for chromosome 2 is a new resource. The panels for chromosomes 1 and 7 complement previously published panels. The Repository distributes these regional mapping panels as cell cultures or as DNA. Information about these panels as well as for panels for chromosomes 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 15, 16, 17, 18, 21, 22, 22, and X may be viewed in the NIGMS Repository electronic catalog (http://locus.umdnj.edu/nigms).

Animals↗

A new paradigm for alcohol use in older persons.

BACKGROUND: Current paradigms for conceptualizing alcohol-related problems typically focus on persons who are abusing or dependent on alcohol. These paradigms may not apply to older drinkers whose alcohol use, regardless of consumption-level, can cause problems because of age-related changes in physiology and interactions with increased morbidity, medication use, and functional limitations. OBJECTIVE: We convened an expert panel# to develop clinical indications of harmful, hazardous, and nonhazardous drinking in persons 65 years of age and older. RESEARCH DESIGN AND SUBJECTS: Nine panelists with expertise in psychiatry, geriatrics, internal medicine, and alcohol research were provided with epidemiological data and a published explicit literature review of alcohol use in the elderly. The RAND/UCLA two-round panel method was used to develop the indications. After the second round, the authors wrote a draft statement that was circulated to the panelists whose comments were incorporated into a final document. RESULTS: Panelists agreed on 215 scenarios in which older peoples' use of alcohol either alone or in the presence of chronic medical conditions, medication use, symptoms, smoking, and functional limitations are hazardous or harmful. Panelists' ratings of risk did not differ significantly between persons aged 65 to 74 years and those aged 75 years and older. CONCLUSION: Alcohol use may be hazardous or harmful for older persons, particularly in conjunction with physical or emotional illnesses, medication use, functional limitations, smoking, and driving after drinking. When asking about alcohol use in older persons, clinicians need to be aware of these factors to assist in identifying and managing potential or actual alcohol-related problems.

Aged↗

Effectiveness of preventive in-home geriatric assessment in well functioning, community-dwelling older people: secondary analysis of a randomized trial.

OBJECTIVES: To determine whether preventive in-home comprehensive geriatric assessment (CGA) prevents functional decline in community-dwelling older persons with different baseline functional status: (1) without any basic activities of daily living (BADL) dependency at baseline; and (2) without any instrumental ADL (IADL) and basic ADL dependency at baseline. DESIGN: Subgroup analyses of a 3-year randomized controlled trial. SETTING: The city of Santa Monica, California. PARTICIPANTS: Participants came from the original population (n = 414) of community-living older persons aged 75 years and older who participated in a trial testing the effectiveness of annual preventive in-home CGA. For the first subgroup analysis, we excluded subjects (n = 27) who were dependent in one or more BADL before randomization (final sample size, n = 387); for the second subgroup analysis, we excluded 93 additional subjects who were dependent in one or more IADL before randomization (final sample size, n = 294). INTERVENTION: Annual preventive in-home CGA, with quarterly home visits by gerontologic nurse practitioners, for 3 years. MEASUREMENTS: Functional status data were collected through yearly in-home interviews by independent observers. Subjects were classified as (1) independent in both BADL and IADL, (2) dependent in IADL but independent in BADL, or (3) dependent in both IADL and BADL. RESULTS: In both subgroup analyses, there was no difference in survival between intervention and control subjects. In the subgroup with no BADL impairment at baseline, intervention subjects spent significantly fewer days dependent in both BADL and IADL during each year of the study (5 days vs 14 days, P = .022; 13 vs 33, P = .016; and 19 vs 44, P = .014 for years 1, 2, and 3, respectively) and over all 3 years combined (36 days vs 92 days, P = .016) in bivariate analyses. In multivariate analyses, the intervention reduced time spent in complete (BADL and IADL) dependency (P = .028). In the subgroup of subjects without any IADL or BADL impairment at baseline, no significant differences were apparent in the number of days spent in complete independence and days spent in complete dependency. Intervention group subjects spent more days in partial dependency during Year 1 (24 days vs 9 days, P = .021), but the difference was not significant during Year 2 (47 vs 29, P = .088), Year 3 (49 vs 41, P = .370), and over all 3 years combined (120 vs 79, P = .123) as well as in multivariate analysis (P = .062). CONCLUSION: These findings support the hypothesis that in-home preventive visits delay the onset of disability in people without initial BADL impairment. Further studies in larger samples are needed to determine optimal intervention strategies and effectiveness among well functioning older people.

Activities of Daily Living↗

Population genomics in Sardinia: a novel approach to hunt for genomic combinations underlying complex traits and diseases.

The availability of highly polymorphic markers permits testing whether complex traits and diseases result from genomic interactions between nonallelic normal variants at separate loci. Such variants may be identified by deviations from the expected distributions of alleles at a high number of polymorphic loci, when individuals with the phenotype of interest are compared to normal controls of the same breeding unit, provided that both groups share the same remote ancestry and had no ancestors in common for the last three to four generations. The circumstances needed for such studies are ideally met on the island of Sardinia. The recurrent finding of the same type of association in separate breeding units between the phenotype of interest and a given genotype should allow a distinction between true genetic identity by descent and randomly occurring identities, as these will be obviously different in separate breeding units. The availability of several breeding units located in sharply different ecological environments will permit assessment of the role of nature/nurture factors in the degree of manifestation of each newly discovered genotype/phenotype association. A pilot study to evaluate the proposed strategy has been carried out in the Sardinian village of Carloforte, a community of about 8,000 individuals who have remained genetically homogeneous. Fifty-five control samples have been genotyped with six tetranucleotide microsatellites and with a subset of the 400 markers contained in the ABI PRISM linkage mapping panel, version 2. The allele frequencies for these microsatellite markers have been determined for these 55 individuals and compared to those from a random sampling of subsets of these 55 persons. For the six tetranucleotide microsatellites, a subset of as few as 20 people displayed the same allele frequency distributions as observed with the original 55 unrelated individuals. In conclusion, when samples are chosen from the same breeding unit, the number of individuals sufficient to draw the genomic profile of an isolated population can be relatively small. Likewise, the number of probands with the phenotype of interest can be even smaller when they are ascertained with the same genealogical criteria as the normal controls. By comparing the genomic profile of the probands to a fraction of the control samples within each of several separate breeding units of common remote ancestry, the search for genotype/phenotype association for mono- and multifactorial traits and diseases should be simplified and yield unequivocal results.

Aged↗

Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

Approximately 10% of newborns with congenital hypothyroidism are unable to convert iodide into organic iodine. This iodide organification defect has a prevalence of 1 in 40,000 newborns and may be caused by defects in the thyroid peroxidase enzyme (TPO), the hydrogen peroxide-generating system, the TPO substrate thyroglobulin, or inhibitors of TPO. We identified a high incidence of severe hypothyroidism due to a complete iodide organification defect in the youngest generation of five nuclear families belonging to an inbred Amish kindred. Genealogical records permitted us to trace their origin to an ancestral couple 7-8 generations back and to identify an autosomal recessive pattern of inheritance. Initial studies of homozygosity by descent using two polymorphic markers within the TPO gene showed no linkage to the phenotype. In fact, 4 of 15 affected siblings from 2 of the nuclear families were heterozygous, resulting in homozygosity values of 73% and 53% in affected and unaffected family members, respectively. A genome-wide homozygosity screen using DNA pools from affected and unaffected family members localized the defect to a locus close to the TPO gene. Linkage analysis using 4 additional polymorphic markers within the TPO gene reduced the number of homozygous unaffected siblings to zero without altering the percent homozygosity initially found in the affected. Sequencing of the TPO gene revealed 2 missense mutations, E799K and R648Q. TPO 779K was found in both alleles of the 11 affected homozygotes, both mutations were present in each of the 3 affected compound heterozygotes, and there were no TPO mutations in 1 subject with hypothyroidism of different etiology. These results demonstrate the power of the DNA pooling strategy in the localization of a defective gene and the pitfalls of linkage analysis when 2 relatively rare mutations coexist in an inbred population.

Child, Preschool↗

Relationship between donor age and the replicative lifespan of human cells in culture: a reevaluation.

Normal human diploid fibroblasts have a finite replicative lifespan in vitro, which has been postulated to be a cellular manifestation of aging in vivo. Several studies have shown an inverse relationship between donor age and fibroblast culture replicative lifespan; however, in all cases, the correlation was weak, and, with few exceptions, the health status of the donors was unknown. We have determined the replicative lifespans of 124 skin fibroblast cell lines established from donors of different ages as part of the Baltimore Longitudinal Study of Aging. All of the donors were medically examined and were declared "healthy," according to Baltimore Longitudinal Study of Aging protocols, at the time the biopsies were taken. Both long- and short-lived cell lines were observed in all age groups, but no significant correlation between the proliferative potential of the cell lines and donor age was found. A comparison of multiple cell lines established from the same donors at different ages also failed to reveal any significant trends between proliferative potential and donor age. The rate of [3H]thymidine incorporation and the initial rates of growth during the first few subcultivations were examined in a subset of cell lines and were found to be significantly greater in fetal lines than in postnatal lines. Cell lines established from adults did not vary significantly either in initial growth rate or in [3H]thymidine incorporation. These results clearly indicate that, if health status and biopsy conditions are controlled, the replicative lifespan of fibroblasts in culture does not correlate with donor age.

Adolescent↗

Legal and ethical duties of the clinician treating a patient who is liable to be impulsively violent.

This paper reviews published tort cases that arose after a patient impulsively hurt or killed someone. Plaintiffs alleged breach of the duty to protect (Tarasoff) or negligent release from hospital. There are sixteen cases involving a variety of facts and diagnoses. As a matter of law courts typically hold that impulsive violence is not foreseeable. One jury found a defendant negligent but that verdict was ultimately overturned. Statutes on duty to protect do not imply a duty to act on the fact patterns of impulsive violence in this sample. The author concludes that the ethical duty to do careful clinical work is essentially identical to the legal duty to use due care in these cases. The law imposes no additional burden on the clinician in these cases.

Disruptive, Impulse Control, and Conduct Disorders↗

The HPV 6 E6/E7 transforming genes are expressed in inverted papilloma.

A role for human papilloma virus (HPV) infection in the pathogenesis of head and neck neoplasms has gained support in recent years. Expression of two early-region HPV genes, E6 and E7, is widely accepted as essential for viral-induced carcinomas of the genital tract. These oncoproteins interact with the products of the cellular tumor suppressor genes, p53 and retinoblastoma, and inactivate them. Examining E6/E7 transforming gene expression is an important step toward elucidating the pathogenesis of HPV in head and neck neoplasms. We introduce nasal inverted papilloma (IP) as a novel system for evaluating viral genomic expression and transforming gene regulation of tumorigenesis by virtue of its association to HPV infection and potential for malignant progression. We describe here a reverse transcriptase-polymerase chain reaction approach for the detection of HPV E6/E7-specific transcripts in RNA extracted from IR. A primer pair flanking previously mapped HPV 6 E6/E7 splice donor/acceptor sites was used to direct amplification of cDNA. Reverse transcriptase-polymerase chain reaction experiments generated products representing the 1.2 Kb E1E4 splice transcript and a smaller unclassified fragment in IP from two patients. These results provide evidence for HPV 6 E6/E7 expression in IP with the potential to encode transforming proteins.

DNA, Viral↗