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Biomedical subjects

T Beaty

Publications and source records attributed to T Beaty.

13 recordsLinked to original sources
PubMed2004

Increasing social and psychological information conveyed to General Practitioners after bad news consultations by use of separate letters from the Lung Cancer Nurse Specialist.

Multidisciplinary teams (MDT) now review all cases of lung cancer. These teams include a Lung Cancer Nurse Specialist (LCNS). These Nurses help support the patient and should facilitate communication and liaise with other services. The LCNS is present when the diagnosis is given to the patient but also usually spends time afterwards with the patient and their family. We postulated that a separate letter from the LCNS to the General Practitioner (GP) after the consultations would convey extra information to the GP. In 58 new lung cancer patients reviewed in the clinic, the LCNS and Physician independently wrote separate letters after the consultation in which the diagnosis of lung cancer was given. The GPs were asked by questionnaire about the usefulness of the letter from the LCNS. This letter was considered by the GP to provide extra information in: (i) 69% concerning the patients reaction to the diagnosis; (ii) 85% concerning who attended the clinic with the patient; (iii) 85% about what referrals were made to community services; (iv) 86% about who the patient was living with; (v) 81% about who the patients carers were; (vi) 81% information on the patients condition; (vii) 70% concerning the information given to patients about benefits. Ninety-seven percent of the GPs found the LCNS letter useful or very useful and 92% of the GPs thought that the information in the letter would be useful or very useful when they next saw the patient. Separate and independent letters from the LCNS after "bad news" consultation in lung cancer provides added useful information for GPs. Ninety-one percent of the GPs wanted the letters from the LCNS to continue.

Communication↗
PubMed2001

Opportunities for public health genetics trainees: results of an employer/workplace survey.

OBJECTIVE: To conduct the first employer/workplace survey identifying employment opportunities for graduates of programs with training in public health genetics in the USA, and to determine whether employment opportunities will increase in coming years. METHODS: Six public health genetics training competencies were developed. A survey about workplace and employment opportunities was then conducted with mailings to (1) departments in schools of public health and departments of preventive medicine, (2) local and regional public health officials, (3) insurance companies and health management organizations (HMOs), and (4) biotechnology and pharmaceutical companies. RESULTS: A total of 196 surveys were returned among 1,464 that were mailed. Response rates varied from 5.8 to 46.5% among the target groups. The percent of responding organizations currently employing individuals with skills in genetics ranged from 20 to 62%. The percent currently employing individuals with skills in public health ranged from 39 to 96%. Training opportunities such as internships or practicum experiences are reported for one-third of respondents. For all of the competencies, approximately half of survey respondents who rated the competency important or very important already employ individuals with public health genetics skills. Similarly, at least a quarter of survey respondents who rated the competency important or very important plan to hire individuals with that skill in the next 5 years. Overall, approximately 40% of those surveyed are planning to hire individuals with competencies in public health genetics in the next 5 years. CONCLUSION: Employment opportunities already exist and new positions are becoming available in schools of public health and departments of preventive medicine, departments of public health, insurance companies and HMOs for professionals with public health genetics training. Based on our survey findings, skills and training in public health genetics are important in the workplace.

Journal Article↗
PubMed1999

Determination of Duffy genotypes in three populations of African descent using PCR and sequence-specific oligonucleotides.

The expression of the Duffy Antigen/Receptor for Chemokines (DARC) on red blood cells (RBC) has been commonly determined using hemagglutination tests. Because the vast majority of African individuals are Duffy-negative, screening for DARC expression on RBC is a valuable tool to assess Caucasian admixture in populations of African descent. Furthermore, blood group antigens have been frequently tested as potential risk factors for complex diseases. We established a dot-blotting protocol using sequence-specific oligonucleotides (SSOs) for the DARC-46T ("Duffy-positive") and -46C ("Duffy-negative") alleles. With this method, but not with serological methods, Duffy-positive individuals can be further characterized as homozygous or heterozygous for the dominant Duffy-positive allele, allowing more precise estimation of allele frequencies and admixture in heterogeneous populations. In unrelated African American (n = 235), Afro-Caribbean (n = 90) and Colombian (n = 93) subjects, the frequency of the -46T allele was 21.7%, 12.2% and 74.7%, respectively. The percentage of Duffy-positive individuals (homozygous or heterozygous for the -46T allele) in each population was in accordance with published frequencies. As expected, the -46C allele was not detected in 20 Caucasian subjects. This sensitive and specific method allows for the rapid and inexpensive screening of large samples for Duffy genotypes using small quantities of genomic DNA.

Alleles↗
PubMed1999

Impaired physiological responses to chronic hypoxia in mice partially deficient for hypoxia-inducible factor 1alpha.

Chronic hypoxia induces polycythemia, pulmonary hypertension, right ventricular hypertrophy, and weight loss. Hypoxia-inducible factor 1 (HIF-1) activates transcription of genes encoding proteins that mediate adaptive responses to hypoxia, including erythropoietin, vascular endothelial growth factor, and glycolytic enzymes. Expression of the HIF-1alpha subunit increases exponentially as O2 concentration is decreased. Hif1a-/- mouse embryos with complete deficiency of HIF-1alpha due to homozygosity for a null allele at the Hif1a locus die at midgestation, with multiple cardiovascular malformations and mesenchymal cell death. Hif1a+/- heterozygotes develop normally and are indistinguishable from Hif1a+/+ wild-type littermates when maintained under normoxic conditions. In this study, the physiological responses of Hif1a+/- and Hif1a+/+ mice exposed to 10% O2 for one to six weeks were analyzed. Hif1a+/- mice demonstrated significantly delayed development of polycythemia, right ventricular hypertrophy, pulmonary hypertension, and pulmonary vascular remodeling and significantly greater weight loss compared with wild-type littermates. These results indicate that partial HIF-1alpha deficiency has significant effects on multiple systemic responses to chronic hypoxia.

Animals↗
PubMed1994

Etiopathogenesis of craniofacial anomalies.

This article reviews the current information available on the etiopathogenesis of craniofacial anomalies with a particular emphasis on craniosynostosis. The incidence of various types of craniosynostosis is presented, along with an overview of the causes of malformations and deformations. The basic development of cranial sutures and fusion is explored as a background for the exploration of advances in genetic and molecular biology. This information lays the foundation for our understanding of craniofacial deformities and their response to surgical treatment described in the the other articles of this issue.

Congenital Abnormalities↗
PubMed1993

Neuroanatomy of Rett syndrome: a volumetric imaging study.

Rett syndrome is a pediatric neurological disorder of unknown etiology defined by the presence of severe neurodevelopment decline, acquired microcephaly, dementia, abnormalities of movement, autistic behavior, and seizures in young female children. In this study, the neuroanatomy of 11 females with Rett syndrome and 15 age- and gender-matched control subjects was investigated in vivo with quantitative neuroimaging techniques. Compared to control subjects, the patients with Rett syndrome were found to have significantly reduced cerebral volume; evidence of greater loss of gray matter in comparison to white matter; regional variation in cortical gray matter, with the frontal regions showing the largest decrease; and reduced volume of the caudate nucleus and midbrain, even when taking into account general reduction in the size of the brain. In addition, there was no evidence of an ongoing degenerative process in this sample of girls with Rett syndrome. The consistency of these data with results from neuropathological investigations points to the need for continued quantitative neuroimaging studies of children with this condition. In particular, research employing serial longitudinal scans of very young children manifesting early signs of the clinical syndrome holds promise for helping to elucidate the neuropathological pathways leading to the debilitating clinical manifestations of Rett syndrome.

Adolescent↗
PubMed1991

Further insights into the pathophysiology of hyperapobetalipoproteinemia: role of basic proteins I, II, III.

Hyperapobetalipoproteinemia (hyperapoB), a familial lipoprotein disorder characterized by an increase in small, dense, low-density lipoprotein (LDL) particles, is strongly associated with coronary artery disease. There are two metabolic defects in hyperapoB: an increased synthesis of a very-low-density lipoprotein in liver, resulting in an overproduction of LDL, and a delayed clearance of post-prandial triglyceride and free fatty acids. To date, defects in the apolipoprotein B gene do not appear to explain the hyperapoB phenotype. Defect(s) in the uptake or intracellular metabolism of free fatty acids have been found in cells from hyperapoB patients. Three basic proteins (BPs)--BP I (Mr 14,000, pI 9.10), BP II (Mr 27,500, pI 8.48), and BP III (Mr 55,000, pI 8.73)--were isolated from normal human serum. Compared with normal fibroblasts, cultured hyperapoB fibroblasts incubated with BP I, which appears to be the same protein as acylation-stimulating protein (ASP), showed 50% less stimulation of triglyceride acylation and cholesterol esterification, whereas BP II markedly stimulated cholesteryl ester formation, and BP III caused no difference in response vs normal fibroblasts. However, in cultured normal human monocyte macrophages, BP III, but not BP I or BP II, stimulated cholesteryl esterification two- to threefold. BP I, BP II, and BP III may provide new insights into normal metabolism of lipids, lipoproteins, and free fatty acids and the pathophysiology of hyperapoB.

Animals↗
PubMed1988

Pediatric hyperlipoproteinemia: the phenotypic expression of hyperapobetalipoproteinemia in young probands and their parents.

These data on families of pediatric probands with the hyperapoB phenotype confirm and extend our previous findings of familial aggregation of hyperapoB and document further the expression of hyperapoB in the pediatric age group (Sniderman et al, 1985). In agreement with a more recent report (Beaty et al, 1986) the data suggest, but do not prove, the presence of a Mendelian dominant trait for hyperapoB. The observation that most of the parents affected with hyperapoB were normolipidemic clearly suggests a difference between the expression of hyperapoB in these families and FCH. Further studies on the basic biochemical and genetic defect(s) underlying these common disorders associated with CHD will be necessary to provide a better understanding of the pathogenesis of these important lipoprotein disorders. A significant proportion of children referred to a Lipid Clinic for suspected hyperlipidemia or because of a family history of premature CHD may have hyperapoB. We suggest that measurement of plasma LDL B be added to the standard measurements of lipids and lipoproteins made in Lipid Clinics and that further studies be performed on the utility of using the ratio of LDL C/B as a useful clinical tool to differentiate between those patients with hyperapoB and those with more conventional type II hyperlipoproteinemia.

Adolescent↗
PubMedDate not supplied

Positional candidate gene approach and functional genomics strategy in atopy gene discovery.

As part of our effort in searching for genetic factors contributing to the susceptibility to atopy and asthma, we have focused on a 'positional candidate' approach in identifying CC chemokine gene polymorphisms and their functional correlates. To date, a single-nucleotide polymorphism was found in the RANTES proximal promoter region, and a high degree of sequence variation was identified in the 3'-untranslated region -of the eotaxin gene. Also, we are pursuing a series of functional genomics' studies designed to identify differentially expressed genes in a panel of allergen-specific human Th2 cells and in antigen-induced hyperreactive murine airways. This is performed using a combination of protocols including suppression-subtractive hybridization and cDNA array hybridizations with 18,363 nonredundant sequences. A data base is being generated from a list of subtracted cDNA sequences and array-positive clones to categorize differentially expressed genes. Sequences are being placed in biologically relevant categories on the basis of function (i.e., receptor, signal transduction pathways, transcription, and translation). With the increasing amount of sequence information compiled by the Human Genome Project, it will be particularly challenging to integrate functional gene-mapping efforts to define and compare aberrant genotypes/phenotypes in atopic diseases.

Chemokine CCL5↗