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K E Toomey

Publications and source records attributed to K E Toomey.

At least 37 records · Page 2Linked to original sources
PubMed1993

Epidemiological considerations of sexually transmitted diseases in underserved populations.

Although unexplained declines in the number of bacterial sexually transmitted diseases (STDs) are currently being documented on a national level, increasing rates among minority populations and among adolescents in general, present challenges for STD prevention and control. By contrast, little evidence has been presented to suggest declines in rates of incident viral STDs in any population. Unique approaches to prevention and control based on the epidemiological heterogenicity of STDs are discussed.

Black or African American↗
PubMed1992

HIV prevention and the two faces of partner notification.

In the cases of medical patients with sexually transmitted diseases (particularly those with the human immunodeficiency virus), two distinct approaches exist to notifying sexual and/or needle-sharing partners of possible risk. Each approach has its own history (including unique practical problems of implementation) and provokes its own ethical dilemmas. The first approach--the moral "duty to warn"--arose out of clinical situations in which a physician knew the identity of a person deemed to be at risk. The second approach--that of contact tracing--emerged from sexually transmitted disease control programs in which the clinician typically did not know the identity of those who might have been exposed. Confusion between the two approaches has led many to mistake processes that are fundamentally voluntary as mandatory and those that respect confidentiality as invasive of privacy. In the context of the AIDS epidemic and the vicissitudes of the two approaches, we describe the complex problems of partner notification and underscore the ethical and political contexts within which policy decisions have been made.

Confidentiality↗
PubMed1990

Sexually transmitted diseases. Overview of the situation.

A discussion of the recent changes in the transmission of sexually transmitted diseases is followed with one about the factors that have caused those changes. Brief descriptions of the most common bacterial and viral sexually transmitted diseases are included. Finally, prevention and control strategies are explained, including health promotion, clinical care, detection, treatment, counseling, and partner notification.

Adolescent↗
PubMed1987

Unrecognized high prevalence of Chlamydia trachomatis cervical infection in an isolated Alaskan Eskimo population.

Chlamydia trachomatis genital infections often go unrecognized where specific culture diagnosis is not easily accessible. We studied the prevalence and clinical correlates of C trachomatis in a geographically isolated Alaskan Eskimo population with a high rate of gonorrhea but for whom specific chlamydial diagnosis had never been available. Using a direct immunofluorescent stain of endocervical secretions, we screened 493 women (52% of all women of reproductive age) when they presented to regional health facilities during the year-long study period. Chlamydia trachomatis was identified in 23% (114/493), including 39% (31/80) of teenagers, 30% (34/115) of prenatal patients, 47% (7/15) of pregnant teens, and 40% (8/19) of women with pelvic inflammatory disease. Genital symptoms, clinical signs, and the presence of concomitant gonorrhea were ineffective means of identifying chlamydial infection. This study demonstrates the successful use, and public health importance, of nonculture direct testing to document the unrecognized high prevalence of C trachomatis infection where culture diagnosis is not available.

Adolescent↗
PubMed1983

Turcot's syndrome. Evidence for autosomal dominant inheritance.

A case of Turcot's syndrome (colonic polyposis plus a malignant central nervous system tumor) occurring in a kindred with autosomal dominant colonic polyposis is presented. It is proposed that Turcot's syndrome patients can be classified into Type I where only siblings are affected and Type II where two or more generations have colonic polyposis. A third nonfamilial group cannot be classified into Type I or II based on available information. Evidence is presented suggesting Turcot's syndrome is best considered an additional phenotype of familial polyposis and is most likely inherited in an autosomal dominant manner.

Cerebellar Neoplasms↗
PubMed1982

Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis II (I-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was provided by the establishment of pure, stable clones of both wild type and I-cell fibroblasts from each of two biopsies obtained several months apart. Additionally, it was shown that the I-cell fibroblasts lacked UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminylphosphotransferase while the morphologically normal cells contained levels of this enzyme just below or at the lower end of the normal range.

Cells, Cultured↗
PubMed1979

Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

Somatic cell hybrids were derived from the fusion of (1) Chinese hamster cells deficient in hypoxanthine guanine phosphoribosyltransferase (HPRT) and human cells carrying an X/9 translocation and (2) Chinese hamster cells deficient in thymidine kinase (TK) and human cells carrying a 17/9 translocation. Several independent primary hybrid clones from these two series of cell hybrids were analyzed cytogenitically for human chromosome content and electrophoretically for the expression of human markers known to be on human chromosome 9. The results allow the assignment of the loci for the enzymes galactose-1-phosphate uridyltransferase (GALT), soluble aconitase (ACONs), and adenylate kinase-3 (AK3) to the short arm of chromosome 9 (p11 to pter) and the locus for the enzyme adenylate kinase-1 (AK1) to the distal end of the long arm of human chromosome 9 (hand q34). Earlier family studies have shown that the locus for AK1 is closely linked to the ABO blood group locus and to the locus of the nail-patella (Np) syndrome. Thus the regional localization of AK1 locus permits the localization of the AK1-Np-ABO linkage group.

Aconitate Hydratase↗
PubMed1978

Segregation of an insertional chromosome rearrangement in 3 generations.

The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.

Adult↗
PubMedDate not supplied

Psychiatric disability associated with the fragile X chromosome.

Fragile X (or Martin-Bell) syndrome, a common, genetic, mental retardation disorder is increasingly being recognized as a major cause of cognitive disability and psychiatric illness in boys. Here, we present a study in which relatives in 4 generations of a large family with the fra(X) chromosome were given comprehensive psychiatric evaluations in order to further describe the psychopathology associated with this condition. Three of 4 males with the fra(X) chromosome were found to have autistic behavior. An adult fra(X) male had a chronic schizoaffective disorder and mental retardation. In female relatives, a relationship was found between the fra(X) carrier status and psychopathology including schizoaffective and major affective disorders.

Adolescent↗