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R K Abramson

Publications and source records attributed to R K Abramson.

30 records · Page 2Linked to original sources
PubMed1991

Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.

One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X-linked inheritance, and attitudes toward prenatal, presymptomatic, and carrier testing. Of the respondents, 68% indicated that they would use prenatal testing. Of these, 57.1% would terminate a pregnancy of a male fetus hemizygous for the ALD gene and 13.5% would reportedly choose to terminate a heterozygote female fetus. Presymptomatic testing would be used by 88.7% of respondents to test at-risk sons and carrier testing would reportedly be used by 95.4% of respondents to test their at-risk daughters. Respondents correctly answered an average of 61% of the questions testing understanding of X-linked inheritance. This indicates a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X-linked inheritance.

Adrenoleukodystrophy↗
PubMed1990

Distribution of major dementias by race and sex in South Carolina.

Preliminary data from the newly implemented Registry for dementing illnesses was used to examine the distribution of four types of dementia in black and white residents of South Carolina. The data for 1464 subjects were abstracted by field research nurses in state mental health facilities. Overall, 649 patients (44.3%) were black and 765 (52.3%) were white. Women comprised 53.8% of all cases of dementia in this study. The overall distribution included 66% Alzheimer's disease (AD), 12% multi-infarct dementia (MID), 10% alcoholic dementia (ALC), nine percent other-medical and three percent other-unspecified. Though the proportion of blacks does not exceed one-third of the total population of S.C., blacks comprised 44.3% of all cases of dementia. AD accounted for 79% of all cases of dementia in women, but only 51% of such cases in demented men, who showed an apparent preoponderance of MID and alcoholic dementia. The frequency distribution of MID was equal in blacks and whites. Educational level had no discernible effects. Though not directly comparable, these preliminary findings are similar to those of the Copiah County Study, including a higher frequency of AD with advancing age.

Aged↗
PubMed1989

Elevated blood serotonin in autistic probands and their first-degree relatives.

Whole blood serotonin levels and platelet counts were studied in 14 families, representing 57 family members and 15 probands who met DSM III criteria for infantile autism. High serotonin appeared to segregate in families. When two parents had high serotonin, the serotonin level in their offspring was twice the parental level. When one parent had high serotonin, the serotonin level in the offspring approximated the level of serotonin in either the high serotonin parent or the low serotonin parent. For the case where both parents had low serotonin, in one family the children had low serotonin and in a second family, high serotonin levels were present in the autistic proband, and a sibling with severe mental retardation. Mean serotonin levels were higher for both male and female, autistics and family members, in the four black families than in the 10 Caucasian families.

Adolescent↗
PubMed1987

Solid-phase extraction and high-performance liquid chromatographic method for chlorpromazine and thirteen metabolites.

A rapid and reliable procedure, based on a C8 bonded phase extraction and reversed-phase isocratic high-performance liquid chromatographic separation with internal standard quantitation, has been developed for the determination of the antipsychotic drug chlorpromazine and thirteen common metabolites. The method allows quantitation of these analytes at the ng/ml concentration range in human plasma. An evaluation of recovery, detection limits, and reproducibility is presented along with application of the method to patient samples.

Biotransformation↗
PubMed1986

Development of a rapid extraction and high-performance liquid chromatographic separation for amitriptyline and six biological metabolites.

The development of a rapid high-performance liquid chromatographic method for the determination of amitriptyline, amitriptyline-N-oxide, 10-hydroxyamitriptyline, 10-hydroxynortriptyline (E and Z isomers), nortriptyline and desmethylnortriptyline in plasma and liver tissue is described. A liquid--liquid extraction with hexane--butanol and back-extraction into phosphoric acid provides efficient extraction of amitriptyline-N-oxide along with amitriptyline and the other metabolites. A Supelcosil C8 reversed-phase column with 5-micron packing and a methanol--sodium phosphate buffer--amine modifier mobile phase was used. The combination of mobile phase pH and amine modifier concentration for the best separation within a reasonable analysis time for all seven solutes plus an internal standard was determined using a factorial design coupled with a multi-factor window diagram technique. Ultraviolet detection at 214 nm provided limits of detection of approximately 1 ng/ml.

Amitriptyline↗
PubMed1981

Huntington's disease in black kindreds in South Carolina.

Since the first report in 1890 of hereditary chorea in a black family, there have been few epidemiologic references to Huntington's disease (HD) in blacks and, to our knowledge, no estimates of the prevalence of HD in blacks in the Unites States. On Jan 1, 1980, the estimated minimum prevalence of HD in blacks in South Carolina was 0.97 per 100,000 persons, about one fifth the prevalence for white patients with HD in South Carolina. However, detailed studies of eight newly reported cases of HD from four black kindreds indicate that the mean age of onset (41.75 +/- 4.33 years) and clinical course resemble those of white patients with HD in South Carolina. We comment on possible roots of this prevalence difference between whites and blacks with HD.

Adult↗
PubMed1977

Sulfonamide-induced hemolytic anemia and hemoglobin Hasharon.

A patient with Hb Hasharon had severe hemolytic anemia after several days of daily ingestion of 2 gm of sulfisoxazole. After recovery, her erythrocytes were incubated with the drug, leading to preferential oxidation and precipitation of the abnormal hemoglobin. Since carboxyhemoglobin and cyanmethemoglobin Hasharon were as stable in the heat stability test as identically liganded Hb A, we conclude that the substitution of the hydrophilic aspartate residue by histidine on the surface of the molecule at alpha47 has led by a still unknown mechanism to an interaction of hemoglobin with the drug that labilized the heme-globin bond. Since Hb Hasharon has been found in several unrelated families, the risk of drug-induced hemolytic anemia in such carriers deserves emphasis.

Anemia, Hemolytic↗
PubMed1976

Hemoglobin Wayne: a frameshift mutation detected in human hemoglobin alpha chains.

Hemoglobin Wayne is an alpha chain variant which manifests itself as two minor hemoglobin (Hb) components that migrate more rapidly than Hb A on electrophoresis at pH 8.6. It has been found in a child with Fanconi's anemia and in three generations of the child's family. Each of the minor components yields an alpha chain in which the carboxyl-terminal tripeptide sequence, Lys-Tyr-Arg, has been replaced by the octapeptide sequence Asx-Thr-Val-Lys-Leu-Glu-Pro-Arg. In alpha Wayne I, the slower of the pair, Asx is asparagine, whereas in alpha Wayne II it is aspartic acid. Comparison of the alpha Wayne sequences with the amino-acid sequences of alpha A and alpha Constant Spring leads to the conclusion that Hb Wayne I is the result of a -1 frameshift mutation in the alpha chain and that Hb Wayne II is formed secondarily by spontaneous deamidation of the new asparagine residue. A frameshift is consistent with a single mRNA base sequence for the last eight codons involved and supports the view of Clegg, Weatherall, and Milner [Nature (1971) 234, 337-341] that Hb Constant Spring is the result of a terminator mutation leading to translation of 31 codons not normally translated.

Amino Acid Sequence↗
PubMed1975

Effects of cigarette smoking on aryl hydrocarbon hydroxylase activity in lungs and tissues of inbred mice.

Inbred strains of mice have been classified as aromatic hydrocarbon responsive or nonresponsive depending upon whether the parenteral administration of these substances increases hepatic aryl hydrocarbon hydroxylase (AHH) activity. Aromatic hydrocarbon responsiveness is controlled by genes at a small number of loci. Using 3-methylcholanthrene as inducing agent, strains A/J, C3H/HeJ, and C57BL/6J have been classified as responsive, whereas strains AKR/J, DBA/2J, and SWR/J are nonresponsive. Inhalation of cigarette smoke by both hepatic responsive and nonresponsive mice induces AHH activity in lung, but not in liver, stomach, small intestine, or kidney. The responsive strains have significantly higher levels of basal and induced AHH in the lung than do the hepatic nonresponsive strains. However, because of the especially low basal activity of AHH in lungs of hepatic nonresponsive strains, the ratio of AHH activity in animals treated with cigarette smoke to that in untreated animals is higher in nonresponsive than in responsive strains. AHH activity in lungs is fully induced within 6 to 12 hr after smoke inhalation and remains at the same level whether animals are treated 1 day or daily for 4 week;. AHH in lung returns to basal levels within 5 days after cessation of smoking.

Animals↗