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Biomedical subjects

S Ball

Publications and source records attributed to S Ball.

135 records · Page 8Linked to original sources
PubMedDate not supplied

Molecular analysis of human muscular dystrophies.

The ability to map disease loci using restriction fragment length polymorphisms (RFLPs) identified by DNA probes has revolutionized molecular genetics. Duchenne and Becker muscular dystrophies have been shown to be localized within the same very small region of Xp21 on the human X chromosome. The mutation itself should soon be identified at the DNA level, which will permit a detailed analysis of the molecular defect at the biochemical level. Rapid progress has also been made in the study of myotonic dystrophy on chromosome 19. DNA markers closely linked to the mutant locus have been identified, making antenatal diagnosis possible in informative families. Autosomal recessive muscular dystrophies are more difficult to study, but the means to localize even these mutations is being developed. The next decade should prove to be an exciting one for those involved in the molecular analysis and clinical management of human muscular dystrophies.

Chromosome Mapping↗
PubMedDate not supplied

What, why, and how of consultation-liaison psychiatry. An analysis of the consultation process in the 1990s at five urban teaching hospitals.

There is controversy about the role and function of a consultation-liaison (C-L) psychiatrist, as reflected in the ongoing debate about what to call ourselves. To clarify the essential elements of our function, the authors analyzed the process and content of the entire consultation experience from the time of initial consultation to the time of discharge in 50 patients across 5 urban teaching hospitals. The common components of the C-L process, in this pilot study, were identified to be facilitative, consensus-seeking, and interpretative. Implications of these findings for the C-L psychiatrist's role in the general hospital are discussed.

Hospitals, Teaching↗
PubMedDate not supplied

Multiple marker screening for Down syndrome--whom should we screen?

BACKGROUND: The multiple marker test highlights the complexities of an expanding number of genetic tests that family physicians can offer to their patients. Many concerns surround the use of the multiple marker test, including a poor understanding of the test by physicians and patients, limited sensitivity, increased anxiety among women, and the risks of amniocentesis in patients who have false-positive results. METHODS: An online search of the medical literature was used to select English-language articles addressing the burden of suffering from Down syndrome, and efficacy, cost-effectiveness, and psychological effects of screening. RESULTS AND CONCLUSIONS: Down syndrome occurs in 0.99 per 1000 births, and the risk increases with age. Between 10% and 20% of infants die in the first year, predominantly from heart defects. Special education, the move away from institutionalization, and more employment opportunities have improved the outlook for these persons. The multiple marker test has an overall detection rate for Down syndrome of 56% with a 7% false-positive rate. A laboratory cutoff ratio of 1:190 is the most efficient for optimizing the detection rate and minimizing the false-positive rate. Limited screening to women older than 30 years appears most cost-effective, reducing losses of normal fetuses secondary to amniocentesis and the number of pregnant patients requiring pretest counseling. The family physician needs to inform the patient of the nature, purpose, and risks of screening including the psychological effects. Pretest counseling should be nondirective.

Adolescent↗
PubMedDate not supplied

Evaluating and treating anxiety disorders in medical settings.

Anxiety disorders and medical illness present to the primary care physician as a common comorbidity. This article aims to review the literature on the prevalence of anxiety disorders in patients presenting to primary care physicians; to address the key issues in assessing the comorbid condition; and to discuss psychological and pharmacological treatment options for patients with a comorbid anxiety disorder and medical illness. Anxiety disorders are highly prevalent within the primary care population, and these disorders significantly impact the patient's course and outcome. Fortunately, primary care physicians have a variety of effective cognitive, behavioral and pharmacological interventions available for managing these patients with comorbid anxiety and medical illnesses.

Anti-Anxiety Agents↗