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R M Fineman

Publications and source records attributed to R M Fineman.

At least 37 records · Page 2Linked to original sources
PubMed1984

Failure to demonstrate a chromosome 2 deletion in adenomatous colorectal polyposis patients.

A group of researchers recently reported a specific chromosome abnormality consisting of a deletion in the long arm (q) of chromosome 2 in patients with adenomatous colorectal polyposis. Using a high resolution chromosome banding technique and a blind study design, the authors karyotyped two patients with Gardner syndrome, two patients with familial polyposis, and four normal controls. No deletion was found in chromosome 2.

Adult↗
PubMed1984

Amplification of sodium- and potassium-activated adenosinetriphosphatase in HeLa cells by ouabain step selection.

A multistep selection for ouabain resistance was used to isolate a clone of HeLa S3 cells that overproduces the plasma membrane sodium, potassium activated adenosinetriphosphatase (Na+,K+-ATPase). Measurements of specific [3H]ouabain-binding to the resistant clone, C+, and parental HeLa cells indicated that C+ cells contain 8-10 X 10(6) ouabain binding sites per cell compared with 8 X 10(5) per HeLa cell. Plasma membranes isolated from C+ cells by a vesiculation procedure and analyzed for ouabain-dependent incorporation of [32P]phosphate into a 100,000-mol-wt peptide demonstrated a ten- to twelvefold increase in Na+,K+-ATPase catalytic subunit. The affinity of the enzyme for ouabain on the C+ cells was reduced and the time for half maximal ouabain binding was increased compared with the values for the parental cells. The population doubling time for cultures of C+ cells grown in dishes was increased and C+ cells were unable to grow in suspension. Growth of C+ cells in ouabain-free medium resulted in revertant cells, C-, with biochemical and growth properties identical with HeLa. Karyotype analysis revealed that the ouabain-resistant phenotype of the C+ cells was associated with the presence of minute chromosomes which are absent in HeLa and C- cells. This suggests that a gene amplification event is responsible for the Na+,K+-ATPase increase in C+ cells.

Cell Membrane↗
PubMed1984

Epidemiology of neural tube defects in Utah, 1940-1979.

The prevalence and distribution of 991 cases of neural tube defects who were born in Utah in 1940-1979 are analyzed. The average prevalence at birth is 1.00 per 1000 births (live and stillbirths), which is similar to other states in the western United States. A decline in prevalence is observed during the past 10 years, although there is not a long-term secular trend for the whole time period. Examination of hospital records shows that 17.9% of neural tube defects were not reported on birth or fetal death certificates. The male/female sex ratio is 0.67. No seasonality is found for spina bifida cases; however, a bimodal distribution, with a substantial deficit in May, is observed for anencephaly. A significant negative correlation is found between neural tube defect prevalence and the percentage of individuals in each Utah county who are members of the Mormon Church. No association is found between levels of fallout exposure in Utah and regional variation in neural tube defects, and time-space clustering analysis demonstrates no significant clusters of neural tube defects in Utah.

Anencephaly↗
PubMed1983

Variable phenotype associated with duplication of different regions of 2p.

Previous reports suggest that duplication of the distal part of 2p causes a distinct syndrome. Of the 20 published cases, all resulted from a parental translocation. We report here clinical and cytogenetic data on three patients with dup(2p) and few, if any, of the physical findings of the syndrome. Our data suggest that dup(2p) is associated with an extremely variable phenotype which may be quite mild in some cases. It is also possible that many of the nonspecific developmental anomalies thought to be part of the syndrome may be caused by the accompanying deletion.

Chromosome Aberrations↗
PubMed1983

Phenotypic heterogeneity in neural tube defects: a clue to causal heterogeneity.

We report here retrospective data on 991 liveborn and stillborn infants with neural tube defects (NTDs) born to Utah residents from January 1, 1940 to December 31, 1979. Data were obtained from multiple sources including approximately 1.25 million vital statistics records and several hundred physician and hospital charts. Causal heterogeneity among NTD patients is presumed because 6% of our cases have other congenital anomalies not part of the NTD field defect. A significant association of NTDs with oral clefts is noted. Sex ratios and empiric recurrence risks for isolated NTDs and NTDs associated with other major malformations are also calculated.

Abnormalities, Multiple↗
PubMed1983

Epidemiology and genetics of neural tube defects: an application of the Utah Genealogical Data Base.

The distribution and prevalence of births with neural tube defects in Utah from 1940 to 1979 are analyzed with regard to prevalence rates, secondary sex ratios, seasonality, yearly rates, and time-space clustering. The overall prevalence rate of 1.00 per thousand live births is comparable to that of other populations in the western United States. Analysis of sex ratios indicates a substantially higher proportion of females than males. No significant secular trends or time-space clustering are observed. No seasonality is seen for spina bifida; however, the anencephaly cases are delivered more frequently in the early spring and fall months. Following linkage of the neural tube defect cases to the Utah Genealogical Data Base, application of the genealogical index method shows substantial familial clustering of the disease. The average inbreeding coefficient of the neural tube defect cases is not elevated over that of matched controls. The empirical recurrence risk for the disease is calculated to be 3%, and the heritability estimate is 70%. Likelihood analysis of pedigrees containing spina bifida occulta and spina bifida cystica indicates that they may segregate as an autosomal dominant trait with a penetrance of 75%.

Anencephaly↗
PubMed1983

Sister chromatid exchange: variation by age, sex, smoking, and breast cancer status.

Variation in sister chromatid exchange (SCE) frequency in lymphocytes of 125 persons was compared using a multivariate general linear model. The study was performed to determine whether SCE frequency differs with respect to age, sex, smoking, and breast cancer status. Study subjects were divided into: members of two branches of families having an excess of cancer (primarily breast) including a brother and sister in one family who developed nonbreast malignancies within 1 yr of the study; women in both families successfully treated for breast cancer (all at least 5 yr posttreatment); and women from the general population with confirmed breast cancer. Controls consisted of spouses who married into the high-risk kindreds, hospital personnel, and others (primarily tradesmen without history of occupational exposure). Results show that: (1) Women with active breast cancer have a significantly higher mean SCE frequency than control women or women greater than 5 yr posttreatment for breast cancer; (2) Cigarette smokers show a significantly higher number of SCEs than was observed in nonsmokers; (3) The increase in SCE level in smokers is dose-related to exposure as measured by cumulative pack-years; (4) SCE values in both high-risk families are not significantly different from controls; (5) Neither the age nor sex of the individual affects SCE frequency; and (6) The observed distribution of exchanges agrees with that expected based on the proportion of the genome represented by each chromosome group.

Adult↗
PubMed1983

Correlation of human lymphocyte SCE frequency with smoking history.

Sister-chromatid exchange (SCE) frequency in lymphocytes of 24 active cigarette smokers was compared to that of 24 age and sex matched controls and 7 persons who had stopped smoking an average of 15.6 years. The results indicated that cigarette smoking was associated with a significant elevation (p less than 0.001) in the frequency of SCEs observed in otherwise healthy cigarette smokers. Furthermore, the increase in SCE level was shown to be dose-related to years of exposure when smoking history was measured in cumulative pack-years. The mean SCE frequency of the ex-smokers was not significantly different from nonsmoking controls.

Adult↗
PubMed1982

Spinal dysraphia as an autosomal dominant defect in four families.

Four families were selected randomly on the basis of the occurrence of spina-bifida cystica and/or spina bifida occulta in one or more family members. Sixty-three relatives were studied clinically and roentgenologically; their roentgenograms were evaluated blindly. Twenty-eight were clinically and roentgenologically normal; 35 were diagnosed as having spina bifida occulta (SBO), spina bifida cystica (SBC), vertebral anomalies, and/or external defects usually interpreted as evidence for SBO. Excluding one proband we found the frequency of SBO to be 19/51 (37%) and the frequency of all types of spinal/vertebral defects (excluding five probands) to be 30/58 (52%). The distribution of these defects in the four families was analyzed using likelihood methods corrected for random ascertainment. The log likelihood values for sporadic, recessive, and dominant models were -26.69, -20.95, and -18.90, respectively, indicating a higher likelihood of autosomal dominant inheritance than sporadic occurrence or recessive inheritance. The penetrance probability in this dominant model, estimated by maximum likelihood, is 0.749 +/- 0.100. Further examination of these data suggest that SBO and SBC represent different expressions of the same dominant gene in these kindreds.

Female↗
PubMed1982

Branchial arch malformations in infants of diabetic mothers: two case reports and a review.

We describe two infants of diabetic mothers (IDMs) with branchial arch, vertebral, cardiovascular, and central nervous system malformations. Our observations support the hypothesis of Grix et al [1982] that branchial arch abnormalities may occur with increased frequency in children of diabetic mothers. Two other IDMs (a literature case with hemifacial microsomia and caudal regression, and a child we evaluated with ear abnormalities and the femoral hypoplasia-unusual facies syndrome) reinforce this suggested association. The latter two patients also demonstrate concurrence of branchial arch abnormalities with caudal regression and/or femoral hypoplasia, field defects known to be strongly associated with maternal diabetes mellitus. Genetic counseling for maternal diabetes mellitus probably should include information regarding all of these developmental abnormalities.

Abnormalities, Multiple↗
PubMed1982

The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes.

The Robin sequence is a pathogenetically and etiologically heterogeneous conditions that can be an isolated defect or one feature of many different syndromes. The association of this pattern of malformation with neuromuscular conditions has been alluded to in the literature but not well documented. We report a family with a distinct neuromuscular condition that includes the Robin sequence and discuss the human syndromes and animal models in which the Robin sequence occurs.

Adult↗
PubMed1981

Monoblastic transformation in chronic myelogenous leukemia: presentation with massive hepatic involvement.

Monoblastic transformation developed in a 26-year-old white man with chronic myelogenous leukemia and was manifested by acute, fulminant hepatic failure due to massive blastic infiltration of the liver. The hepatic failure responded dramatically to radiation therapy. The monocytic origin of the blasts was confirmed by means of light and electron microscopic examination and cytochemical studies. Cytogenetic studies of the leukemic blasts revealed a Philadelphia-chromosome-positive karyotype and a clonal evolution of chromosome changes resulting in multiple karyotypes.

Adult↗
PubMed1981

Deletions of different segments of the long arm of chromosome 4.

We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a horter terminal deletion, ie, 4q33 leads to qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal-deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1 leads to q25, 4q21.3 leads to q26, and 4q27 leads to q31.3. The phenotypic expression noted in these patients is variable in differs from the 4q terminal-deletion syndrome.

Abnormalities, Multiple↗
PubMed1980

Holoprosencephaly in a Down syndrome child.

Gross malformation of the central nervous system (CNS) is rare in Down syndrome (DS). To our knowledge we report for the first time the association of trisomy 21 and holoprosencephaly. Because of the low probability of chance concurrence due to unrelated causes, a causal relationship between these two conditions in the patient must be presumed. The anatomic similarity of the holoprosencephalic defect in this infant to that seen in others with autosomal dominant, recessive, sporadic, or syndromal forms of holoprosencephaly, supports the hypothesis that: a) this CNS defect is a causally nonspecific developmental field complex (DFC); b) the increased incidence of such DFC's in the DS represents the result of a nonspecific decrease of developmental homeostasis [Waddington, 1975] due to autosomal aneuploidy.

Abnormalities, Multiple↗
PubMed1980

Congenital macular colobomas and short-limb skeletal dysplasia.

We report a previously undescribed association of severe short-limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia. Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.

Bone and Bones↗