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Biomedical subjects

P Finn

Publications and source records attributed to P Finn.

At least 19 recordsLinked to original sources
PubMed1991

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).

We performed genetic analysis for carrier detection for several at-risk females in a four-generation Duchenne muscular dystrophy (DMD) pedigree using deletion analysis. We demonstrated that dosage analysis is a suitable alternative method to determine the carrier status of female relatives of DMD patients shown to have a deletion within the DMD gene. Subsequently, we diagnosed an affected male fetus for an at-risk female shown to be a DMD carrier by deletion analysis. The usefulness of deletion and linkage analysis are compared. In this family, linkage analysis was complicated by the unavailability of key family members, two recombination events and by previously undisclosed nonpaternity. We found that dosage analysis was more efficient than linkage for carrier evaluation in this family.

Adult↗
PubMed1990

A frame-shift mutation in the cystic fibrosis gene.

Cystic fibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians. The disease causes defective regulation of chloride-ion transport in exocrine cells. Although in all CF families the disease is linked to a locus on chromosome 7q31, there is clinical heterogeneity in the severity of the disease and the age at which it is diagnosed. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. A three-nucleotide deletion (delta F508) causing the loss of a phenylalanine residue in the tenth exon of the CFTR gene has been found on 70% of CF chromosomes. We have now characterized a CF family in which neither parent of the affected individual carries the common mutation, and identified a two-nucleotide insertion in the CF allele of the mother. The mutation introduces a termination codon in exon 13 of the CFTR gene at residue 821, and is predicted to result in the production of a severely truncated nonfunctional protein.

Alleles↗
PubMed1990

Joubert syndrome: a clinico-radiological study.

A characteristic malformation of the cerebellum, including dysgenesis of the vermis and enlargement of the fourth ventricle was observed on computed tomography (CT) in 16 children on review of our consecutive material. Seven of these children underwent magnetic resonance imaging (MRI) which showed hypoplasia of the brainstem in addition to cerebellar vermian dysgenesis. One child had, in addition, dysgenesis of the corpus callosum. All these children were developmentally delayed, and many had neonatal breathing abnormalities, congenital retinal dystrophy and supranuclear ocular motor abnormalities. Joubert's syndrome should be suspected in children in whom dysgenesis of the cerebellar vermis and hypoplasia of the brainstem is shown on CT or MRI.

Brain Stem↗
PubMed1990

Inherited predisposition to alcoholism: characteristics of sons of male alcoholics.

Sons of male alcoholics (SOMAs) are at markedly heightened genetic risk for the development of alcohol abuse. Study of SOMAs could therefore conceivably increase the efficiency of research aimed at uncovering those heritable factors that predispose to alcoholism. SOMAs manifest observable behavioral, cognitive, and psychophysiological abnormalities while sober and react idiosyncratically to alcohol intoxication. They are most commonly described as conduct disordered and hyperactive, appear heir to a variety of deficits in verbal and abstract cognition, and perform more poorly in the academic environment. SOMAs are characterized by abnormal patterns of cued psychophysiological response, and appear more sensitive to the putatively reinforcing aspects of alcohol intoxication. Various methodological weaknesses permeate the relevant literature. Some straightforward improvements are suggested.

Adolescent↗
PubMed1989

Biochemical aspects of tryptophan depletion in primates.

We studied the degree of plasma tryptophan depletion produced by giving normal human males different amounts of a tryptophan-free (T-) amino acid mixture. From the results of this and other studies we concluded that the maximum degree of tryptophan depletion can be produced by a 31.5 g mixture of seven essential amino acids. Administration of a T- amino acid mixture to vervet monkeys lowered tryptophan and 5-hydroxyindoleacetic acid in the cerebrospinal fluid. Levels of tyrosine and the catecholamine metabolites were unchanged. These data support the idea that the effects of T- mixture on mental function in humans which have been reported previously are due to a decrease in 5-hydroxytryptamine.

Adolescent↗
PubMed1989

Autonomic hyperreactivity and risk for alcoholism.

1. Studies which illustrate autonomic hyperreactivity in sons of alcoholics are reviewed and discussed. This response is elicited by a wide range of stimuli which vary from the stressful to the incidental. It also occurs independently of coping strategy. This hyperreactivity, which is particularly characteristic of multigenerational sons of alcoholics is significantly dampened by alcohol. This pattern of results supports a negative reinforcement model of alcohol abuse in these individuals.

Alcoholism↗
PubMed1989

The selection of "fluent" samples in research on stuttering: conceptual and methodological considerations.

The characteristics of stutterers' fluency has been the object of much research in recent years, but it is not always clear what the term "fluency" refers to in this research. This paper reviews the concept of fluency and considers the ways in which it has been employed in research on stuttering. The methods that have been used to identify fluent intervals in stutterers' speech are reviewed along with their reliability and validity. It is concluded that there is an urgent need to clarify the reference for fluency in such studies, and to develop procedures for measuring and quantifying fluency. Additional avenues for research are also discussed.

Humans↗
PubMed1989

Stutterers' self-ratings of speech naturalness: assessing effects and reliability.

Using single-subject experiments with 3 adult stutterers, this study evaluated the effects of instructions to stutterers to rate and modify how natural their speech sounds on experimenters' ratings of speech naturalness, stuttering frequency, and speaking rate. The study also included an investigation of the reliability of stutterers' and listeners' naturalness ratings. The stutterers were partway through a therapy program using prolonged speech or rate control. Results showed the stutterers could modify their speech so that their naturalness ratings increased or decreased. These changes were independent of stuttering or speaking rate. Experimenter ratings of speech naturalness were unchanged in conditions where stutterers judged their speech to sound more natural, but paralleled the stutterers' ratings when they judged their speech to sound more unnatural. An attempt to see if stutterers differed in their ratings of how natural their speech sounded or felt showed differences for one stutterer. Reratings of randomized session recordings by experimenters and independent judges showed that their ratings were highly reliable. When the same randomized session recordings were rerated by the stutterers (1 and 3 months after the experiment), their judgments of changes in their speech naturalness, which were not found in the experimenters' ratings, remained consistent and reliable.

Behavior Therapy↗
PubMed1985

Decriminalization of public drunkenness: response of the health care system.

Thirty-four U.S. jurisdictions have fully implemented the major provisions of the Uniform Alcoholism and Intoxication Treatment Act, calling for the decriminalization of public drunkenness. Available evidence strongly suggests that the Uniform Act has only imperfectly achieved two of its principal goals: the redirection of responsibility for the public inebriate from the criminal justice system to the health care system, and the rehabilitation of public inebriates through participation in a continuum of health care services. Explanations for these failures may lie in both the concept of detoxication and in the effectiveness with which the concept has been implemented. However, additional research is needed to provide adequate data for fully assessing the impact of the act and explaining its apparent failure.

Aftercare↗
PubMed1979

Teenage drunkenness: warning signal, transient boisterousness, or symptom of social change?

It is important for anyone working with youngsters, including counselors, physicians, psychiatrists, social workers, school administrators, and parents to familiarize themselves with the prevalence and characteristics of youthful drunkenness. Several attitudes toward this widespread adolescent behaviour are now current--and often in conflict--in our society, including viewing teenage intoxication as a symptom of problem drinking, a warning signal of future alcoholism, a reflection of cultural norms and social changes, and an expression of youthful boisterousness. Tentative conclusions are reached regarding the validity and usefulness of each of these different perspectives of youthful drinking behavior.

Adolescent↗
PubMed1978

Integrating occupational health and safety into the health education classroom.

Given the startling number of job-related illnesses and injuries which occur every year, occupational health and safety, a hitherto neglected topic, deserves significant attention in the school health education curriculum. Youngsters need to be exposed to this field before they become indifferent or callous toward diseases and accidents in the workplace and while the opportunity still exists to weight health and safety considerations in selecting a career. In addition, when students take up regular employment, they cannot rely on industry, government, or organized labor to protect them fully from occupational illnesses and accidents; they must possess the skills and attitudes necessary to safeguard themselves. Occupational health and safety education in the schools can focus on general awareness, skill development, and job-specific information. The field can be easily and appropriately integrated with a number of current health education topics. Examples of integration are provided for eleven typical areas of a school health education curriculum.

Abnormalities, Drug-Induced↗