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Biomedical subjects

R Doherty

Publications and source records attributed to R Doherty.

32 records · Page 2Linked to original sources
PubMed1986

Genetic homogeneity of cystic fibrosis.

We studied large Amish/Mennonite/Hutterite kindreds that segregate cystic fibrosis (CF) for linkage between CF and the polymorphic DNA markers pJ3.11 and 7C22 located on chromosome 7. These inbred pedigrees consist of more than 300 members including 30 affected individuals. In these families, linkage between the CF locus and the chromosome 21 marker D21S5 and between CF and the marker at the met oncogene locus on chromosome 7 had been previously indicated. We now report linkage between CF and pJ3.11 (Z = 4.92, theta = 0) and between CF and 7C22 (Z = 3.42, theta = 0). Therefore, CF segregates in these large pedigrees in a manner consistent with data from smaller outbred families with respect to the markers on chromosome 7 closest to CF. These data are consistent with locus homogeneity for the defect causing CF in the populations that have been examined to date.

Chromosomes, Human, Pair 21↗
PubMed1986

VSV G protein induces murine cytolytic T lymphocytes.

Mice immunized with vesicular stomatitis virus (VSV), with its glycoprotein (G) in lipid vesicles or with a truncated, soluble form of G called Gs, developed an expanded population of virus specific cytolytic T lymphocyte (CTL) precursors and also led to the production of neutralizing serum antibody. The CTL precursors could be restimulated in vitro with either the virus or its glycoprotein components. Thus the glycoprotein of VSV, either associated with lipids or in soluble form, induced both cellular and humoral immune responses that might be sufficient to result in protective immunity.

Animals↗
PubMed1986

A linkage study of cystic fibrosis in extended multigenerational pedigrees.

The linkage of polymorphic DNA markers on chromosome 7 to cystic fibrosis (CF) was examined in two pedigrees and a number of smaller nuclear families. The pedigrees are multigenerational and together consist of more than 300 members including 30 affected individuals, while the nuclear families each have two generations and either two or three children with CF. Tight linkage was observed between the CF locus and the met oncogene locus theta = 0, zeta = 15.45), pJ3.11 (theta = 0, zeta = 10.07), and 7C22 (theta = 0, zeta = 6.64) in both the pedigrees and nuclear families with no evidence for recombination between CF and any of the DNA markers. Weaker linkage between the CF locus and the locus for the serum enzyme activity marker paraoxonase (PON) was detected, theta = 0.18, zeta = 0.76. The two pedigrees were sufficiently informative to detect significant linkage between CF and each of the three DNA markers previously shown to be tightly linked to the CF locus. These results establish a locus for CF in these pedigrees in the region of chromosome 7 nearest the three DNA markers met, pJ3.11, and 7C22 and are consistent with locus homogeneity for the defect causing CF in these populations and others that have been examined to date.

Chromosomes, Human, Pair 7↗
PubMed1983

The selective utilization of prenatal genetic diagnosis. Experiences of a regional program in upstate New York during the 1970s.

The regional prenatal diagnosis program of the Finger Lakes Health Systems Area in upstate New York has been monitored since its start in 1971. By the end of 1980, more than 1,250 diagnostic procedures had been successfully completed. Based on analyses of regional vital statistics, genetic services data, repeated surveys of obstetricians, and an ongoing survey of recent mothers older than 34 years of age, the authors concluded that: 1) in the study region, most women with an indication for prenatal diagnosis because of age are aware of the possibility of prenatal diagnosis; 2) the majority of obstetricians discuss amniocentesis with their patients; 3) after a period of rapid growth the utilization rate in the study region reached about 40% in 1981; 4) nonuse of prenatal diagnosis is based mostly on a patient's decision rather than system deficiencies; and 5) a community approach to increase utilization will have to focus on how to provide a supportive social climate for these services rather than on increasing awareness among potential patients or more referrals by providers.

Abortion, Induced↗
PubMed1982

Reflections on prenatal diagnosis: the consumers' views.

Twenty-three couples and three women who had amniocentesis for prenatal diagnosis of birth defects were interviewed for their responses to the process. While very positive toward the test and the information it provided, the subjects indicated significant stress while awaiting the results of the test and in facing the possibility that they might have to consider abortion if the test was positive for the defect. There was also potential for future marital conflict because of differing or erroneous interpretations of risk of abnormality in future pregnancies. Implications for genetic counselors and social work are suggested.

Adult↗
PubMed1978

Crystal and molecular structure of quinidine.

The structure of the free base quinidine was determined by single crystal X-ray diffraction. Quinidine crystallizes from absolute ethanol as the ethanolate, with the molecular formula C20H24N2O2.C2H6O and molar mass 370.491 units. It crystallizes in the orthorhombic space group P212121 with unit cell dimensions a = 1321.1(3), b = 989.3(2), and c = 1651.5(3) pm. The measured density was 1.15 g/cm3; the density calculated for Z = 4 was 1.164 g/cm3. The diffraction data were collected by using MoKalpha radiation. A final R value of 0.055 was obtained. Evidence for intermolecular hydrogen bonding was found. The crystal analysis is in agreement with the structure proposed by other methods. The absolute configuration is based on the published structure of 10-bromo-10,11-dihydroepiquinidine.

Chemical Phenomena↗
PubMed1976

Isolation of Murray Valley encephalitis virus from the brains of three patients with encephalitis.

Murray Valley encephalitis virus was isolated from the brains of three patients who died from encephalitis during the 1974 epidemic. Isolation of the virus from autopsy material was successful when death occurred within two weeks of the onset of illness; however, no isolations were made from specimens collected before death or from autopsy material obtained from patients who died more than two weeks after the onset of symptoms. The virus was recovered most frequently in embryonated eggs, but two strains were isolated in cell culture.

Adolescent↗
PubMed1976

'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.

A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.

Child↗
PubMedDate not supplied

Change the scope of practice of paramedics? An EMS/public health policy perspective.

OBJECTIVE: To analyze the potential for expanding the scope of practice of paramedics from public health, health planning, and health policy perspectives, utilizing data covering more than 42,000 emergency patients. METHODS: The authors conducted a retrospective study of 42,918 patients seen in two Baltimore emergency departments over a six-month period, 5,259 of whom were transported by emergency ambulance. The authors constructed epidemiologic profiles of in-hospital and prehospital patients, and merged ambulance data with discharge diagnoses. RESULTS: The 42,918 patients had a total of 2,118 different discharge diagnoses. The ten most frequent diagnoses of ambulance-transported patients were convulsions, injuries, asthma, congestive heart failure, chest pain, syncope and collapse, otitis media, abdominal pain, cardiac arrest, and respiratory abnormality. The ten most frequent diagnoses for all ED patients were otitis media, asthma, finger and nonspecific injuries, upper respiratory infections, chest pain, bronchitis, pharyngitis, gastroenteritis, nonspecific viral infections, and urinary tract infections. Infections accounted for 31.6% of the top 50% of diagnoses by volume, followed by injuries (24%) and cardiovascular cases (16.5%). However, 26.9% of ED patients received an assessment and diagnosis of general symptoms (no procedure). CONCLUSIONS: The high number of diagnoses and the frequency of infections as a primary complaint in this patient sample reconfirm the primacy of the physician in prioritizing patients and assigning treatment pathways. The authors suggest a methodology that may allow properly trained medics to alter some of their role as physician extenders, but suggest that system planners must first ensure that any changes not reduce the public health benefits that each EMS system already provides.

Adolescent↗
PubMedDate not supplied

A medically wise approach to expanding the role of paramedics as physician extenders.

The authors examined a portion of the complex issue of the scope of practice of paramedics in light of the epidemiologic profile of emergency patients seen at two Baltimore hospitals. They suggest that the same approach could and should be used to help decide on the scope of work of prehospital personnel in any jurisdiction. The findings lead the authors to urge caution toward any potential changes to the work done by medics, because of the enormous breadth of presenting patient conditions. The authors suggest that the epidemiologic profile witnessed in Baltimore would require increased direct physician input on patient destination decisions for all medics who would be working under an expanded scope of functions, and the paper suggests a mechanism for accomplishing this goal. Finally, while there may be compelling economic reasons to change what medics do in the field, this article cautions health care managers to design changes, based on solid evidence, that will have a positive public health impact, and then work to evaluate the character of the impact after changes are implemented.

Algorithms↗