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V E Headings

Publications and source records attributed to V E Headings.

At least 19 recordsLinked to original sources

Revisiting foundations of autonomy and beneficence in genetic counseling.

Respect for autonomy of clients and helping clients to achieve the good they desire are now recurring themes in genetic counseling literature. In professional discourses on the clinical encounter involving genetic counseling these ideas are frequently employed in a manner which suggests that a client enters the conversation lacking only some technical information needed to make a decision. However, decision-making autonomy is developed and sustained over a lifetime through dependencies on social partners; including with the genetic professional. In an operational sense autonomy is reflected in the capacity of a client to do informed analytical work, to engage in reality testing of alternative decisions, and to do moral testing of decisions. The counselor's role can extend to assisting the client in developing the skills needed for the tasks of moral deliberation. This work develops a theoretical framework for conceptualizing autonomy of clients and the resulting relationship between counselor and client. This framework is more foundational than current debates about the relative merits of directive versus nondirective counseling, and points toward a relationship between counselor and client which differs from that implied by either of these two traditional relational paradigms.

Beneficence↗

Theoretical aspects of AIDS in children.

It is estimated that world-wide approximately 13 million adults and at least 1 million children already have the HIV virus. Projections call for another twenty or thirty million new infections in the 1990s. Stresses that generally accompany chronic illnesses have been well identified. Also well known are the unique series of concerns that adult AIDS patients and their caretakers experience. Of children who are born to HIV infected mothers, the prevalent mode of transmission of the HIV infection, 30 per cent have been found to be infected and of these approximately 12-15 per cent will develop AIDS. This paper focuses on children at risk in urban environments, where other social problems such as poverty and drug use complicate the picture. It reviews psycho-social issues associated with AIDS, such as, knowledge and "disclosure" of infection status, problems of healthy siblings, "kinship care", problems of professionals engaged with this population, etc. Ethical guidelines as well as recommendations for policy and services are also presented which can protect and assist affected children and their families, and the professionals working with them. For children, there is a unique inter-connectedness, medical, developmental and psychasocial needs at all ages, that has to be taken into account as the illness modifies developmental progress and creates an altered social milieu.

Adolescent↗

An erythrocyte membrane antigen associated with X-linked muscular dystrophy.

Goat antiserum was prepared against erythrocyte membranes obtained from a man who had X-linked muscular dystrophy. When cross-adsorbed with control membranes and tested on double immunodiffusion plates or by binding to intact erythrocytes suspended in thin-layer agar plates, this antiserum discriminated between membranes from phenotypically normal controls and dystrophic men, and between controls and obligate female dystrophy carriers. It also identified two populations among a small sample of women at risk for being dystrophy carriers.

Adolescent↗

Sickle Lepore hemoglobin identified in a black American infant.

An integrated newborn infant screening, follow-up testing, and counseling service for hemoglobinopathies creates opportunity for early medical management of disease processes, assistance to parents in developing coping strategies, and educational counseling about recurrence risks in subsequent pregnancies. These objectives were operative in a case of sickle Lepore hemoglobin identified through a newborn infant screening service. The initial screening test was reported as Hb AS. Follow-up electrophoresis on cellulose acetate was compatible with Hb SS, but in citrate acid agar gel there were major and minor zones of S and A mobility, respectively. This and other hematologic parameters in both the child and his father were compatible with a sickle Lepore phenotype. This was supported by a tryptic peptide map of the purified variant hemoglobin from the father. Without a follow-up testing and counseling service, this case would probably have been missed until manifestation of clinical phenotype.

Anemia, Sickle Cell↗

Sickle cell disease in childhood. Strategies for early diagnosis.

Early diagnosis of hemoglobin diseases means the identification of a molecular phenotype at a stage when there is opportunity to prevent, minimize, or more adequately adapt to an anticipated health burden. Such diagnosis is presently possible in early childhood, in the neonatal stage, and in fetal stage. A benefit of early diagnosis at all of these stages is the provision of additional options to parents for making informed decisions regarding prevention or for coping with the anticipated hemoglobin disease.

Amniocentesis↗

Prevalence of alpha-chain variants at birth.

Hemoglobin electrophoresis of cord blood from 4,499 newborns was performed as part of a sickle cell disease detection program. Although the expected frequency of the genes for hemoglobins S and C were observed, six newborns (five kindreds) were heterozygous for an alpha G Hb. In four kindreds, the alpha chain variant was identified as Hb G-Philadelphia. In each case, heterozygosity for this Hb was manifested at birth by the presence of Hb F/G (alpha 2 G gamma 2), a slow Hb migrating between the positions of Hbs S and C on cellulose acetate. In some newborns, Hb G (alpha 2 G beta 2) was also detectable, so that these cord bloods had four hemoglobin components: F, F/G, A, and G. The prevalence of Hb G-Philadelphia in this population sample is higher than that usually reported for black Americans and may represent a founder effect. Comprehensive screening of cord blood hemoglobins should use electrophoresis on alkaline media as the primary testing procedure because it allows recognition of most variants, such as the D (G) hemoglobins. Reliable identification of Hbs S and C requires citrate agar electrophoresis as a confirmatory test.

Blood Protein Electrophoresis↗

Identification of inherited protein variants in individual erythrocytes.

Inherited electrophoretic variations of hemoglobin, carbonic anhydrase, and glucose-6-phosphate dehydrogenase in individual erythrocytes were separated by electrophoresis in ultrathin agar gels. By staining the electropherograms with specific fluorescein-conjugated antibodies against hemoglobins, relative proportions of two hemoglobins within individual erythrocytes can be estimated. The findings suggested that the intracellular proportions of HbA and HbS in heterozygotes are heterogeneous within a given population of cells. By this method cells containing hemoglobin F (F cells) as well as a minor variant of hemoglobin F were identified. This tool potentially offers an approach to monitoring distribution of inherited variants in individual erythrocytes for a large number of proteins.

Animals↗

Etiology of homosexuality.

The range of expression of homosexuality and its association with certain cultural, environmental, and genetic factors are most consistent with the concept of a multifactorial trait. Additionally, genetic heterogeneity in this phenotype (alternative mutants corresponding to a single phenotype) is highly probable. In certain nonhuman and presumably in human species the normal sexual development of the hypothalamus is guided by an appropriate exposure to androgen at a critical early stage, and this in turn presumably contributes to sociopsychologic sex development. Particularly instructive in this regard have been the monogenic experiments of nature in man--XY females with insensitivity to androgens, congenital adrenal hyperplasia, and male pseudohermaphrodites (5-alpha-reductase deficiency). Additionally, in the human, sociopsychologic sex also appears to be molded by sex assigned at birth and sex of rearing. Several of the intersexuality syndromes and psychoses are accompanied by increased homosexuality, but a majority of homosexuals are not in these categories. A limited number of family studies, including twins, tentatively suggests a heritable risk, at least in some families.

Animals↗

Homozygous alpha1 antitrypsin deficiency with unusual associations: a case report.

The rare association of protease inhibitor deficiency (Pi(zz) genotype) in a black American with chronic, obstructive pulmonary disease due to asthmatic bronchitis, rather than basal pan lobular emphysema, is presented. The late onset of symptoms, despite environmental exposures, is also unusual in this homozygote, as is his ethnic background.

Black or African American↗

Protease inhibitor profile of black Americans with and without chronic cardiopulmonary disease.

An epidemiologic study of protease inhibitor (alpha(1)-antitrypsin) was undertaken among 599 ambulatory and hospitalized black American patients with chronic cardiopulmonary disease referred for pulmonary function testing, and 115 ethnically matched, healthy control subjects. Clinical evaluation consisted of respiratory questionnaire completion, physical examination, chest radiograph, and spirography. Protease inhibitor evaluation consisted of measurement of serum trypsin inhibitory capacity in all subjects corrected by comparison with control sera, while 200 of these subjects were phenotyped for alpha(1)-antitrypsin electrophoretic variants.Results showed mean serum trypsin inhibitory capacity for all subjects was 1.56, SD ± 0.47 mg/ml, while corrected values were 111.2, SD ± 30.5 percent of control. Acute phase reactivity was present for patients with heart disease, pulmonary malignancy, p<0.01 for both, and pulmonary fibrosis, p<0.05, when compared with controls. Prevalence of protease inhibitor variants in 29 controls was two heterozygotes for the Z variant (seven percent), and one homozygote for the S variant. Among 94 patients with chronic obstructive pulmonary disease, prevalence was 1.1 percent each for ZZ and SZ phenotypes, and 2.1 percent for MZ. Suprprisingly, the sole ZZ patient had asthmatic bronchitis rather than emphysema.Computed allele frequencies for Pi M and Z were comparable to those for a random sample of black Americans in St. Louis, but differed from a sample of black infants in Brooklyn, NY.These results indicate that protease inhibitor deficiency variants are not as uncommon among black Americans as the literature suggests. Furthermore, the heterozygous state is not necessarily a risk factor in development of chronic obstructive pulmonary disease. Protease inhibitor deficiency states therefore appear to play less important a role in etiology of chronic cardiopulmonary disease in black Americans than among their Caucasian counterparts.Preliminary work was published in abstract form.(1)

Adolescent↗

Identification of hemoglobins in single erythrocytes by electrophoresis.

We present here a method for electrophoretic identification of hemoglobin variants in many individual erythrocytes simultaneously, which is made possible by instruments developed in our laboratory. The system spaces and aligns the erythrocytes along a common origin and prevents 'doubling' of cells. Unambiguous separation of different hemoglobins (Hbs) occurred from single erythrocytes, such as Hbs A, C, F. Staged micrographs showed that hemoglobins of differing mobility from a single cell arise from a single point source of hemoglobin. In principle this capability is applicable to other proteins and could facilitate investigation at a cellular level into a variety of questions pertaining to gene action.

Electrophoresis↗

Prevention of inherited multifactorial diseases.

Among the inherited multifactorial diseases are included a number of the common chronic diseases of adults. Assignment of risks within high-risk families, based on both genetic and environmental factors, offers opportunity for prevention of a portion of the present chronic disease burden. The most realistic option for prevention must be assessed for each disease, since this varies from no options to a relatively simple decision to avoid a specific environmental risk factor. Attention to specific options for prevention is an aid to identifying areas of high priority research, such as (1) factors which influence compliance with preventive management, (2) the quality of the physician-patient relationship, (3) environmental monitoring and technics for assessing genetic susceptibility to environmental risks, and (4) education of physicians in the art of chronic disease prevention.

Breast Neoplasms↗