Search PubMed⌕ Search

Biomedical subjects

V E Anderson

Publications and source records attributed to V E Anderson.

At least 109 records · Page 6Linked to original sources
PubMed1984

Primary tumorous aldosteronism due to a black adrenal adenoma: a light and electron microscopic study.

A case of primary tumorous aldosteronism due to a black adrenal adenoma in a 37-year-old man is reported. Light microscopy showed the tumour to consist predominantly of compact cells containing intracytoplasmic lipofuscin, accompanied by zona fasciculata and intermediate type cells. Electron microscopy identified compact and interface (inner zona fasciculata) type cells, and also demonstrated spironolactone bodies in a compact cell. The morphological appearance of the tumour and adjacent adrenal gland, combined with the clinical and biochemical findings, supports both its secretory function and its classification as a rare variant of the more common non-pigmented aldosteronoma.

Adenoma↗
PubMed1984

Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies.

We studied a large kindred with autosomal dominant spinocerebellar ataxia (SCA) to assess reproductive performance, the impact of genetic counseling, and linkage relationships of the SCA locus. Reproduction was not lower in those with SCA than in unaffected sibs or first cousins. Genetic counseling reduced reproduction during the risk period for development of SCA. Given autosomal dominant transmission of a single gene, we found strong evidence that the locus for SCA in this kindred is linked to the HLA loci.

Adolescent↗
PubMed1983

Fluorescent properties of pyrene bound at specific acylation sites of chicken liver fatty acid synthase.

The covalent modification of chicken liver fatty acid synthase by 4-(1-pyrenyl)butyryl-CoA (PBA-CoA), a fluorescent analogue of acetyl- and malonyl-CoA, has been studied. The binding isotherms and the kinetics of inactivation suggest 2 mol of PBA-CoA/mol of enzyme is specifically incorporated into the enzyme. Two classes of binding sites have been identified by determining the fluorescence lifetimes of enzyme-bound pyrene, by the quenching of enzyme-bound pyrene fluorescence with iodide, and by neutral hydroxaminolysis of both the native and denatured PBA-CoA-modified enzymes. Hydroxaminolysis of the denatured enzyme indicates that 4-(1-pyrenyl)butyric acid is esterified to both hydroxyl and thiol groups. The portion esterified to the hydroxyl is readily removed from the native enzyme by treatment with neutral hydroxylamine, indicating that the oxygen ester is unstable to hydroxylamine in the native enzyme. Iodide and acrylamide quenching of the enzyme-bound pyrene fluorescence shows that solvent access to both classes of pyrene binding sites is restricted. Iodide preferentially quenches one class of sites in the native enzyme, but these sites are not differentiated in the monomeric or denatured enzyme. The steady-state anisotropy, 0.083, indicates the enzyme-bound pyrene has considerable rotational freedom. The dynamic anisotropy can be characterized solely by a viscosity-dependent rotational correlation time of 610 ns, which is ascribed to the rotational motion of the dimeric enzyme.

Acyl Coenzyme A↗
PubMed1982

Seizure recurrence after a first unprovoked seizure.

We studied 244 patients (of all ages) who presented with a first unprovoked seizure and were followed for a median of 22 months in order to ascertain the risk of subsequent seizures. The cumulative risks of recurrence were 16 per cent at 12 months, 21 per cent at 24 months, and 27 per cent at 36 months after the initial seizure. The risk of recurrence in patients with a history of prior neurologic insult was 34 per cent; all recurrences in this group were observed within the first 20 months. Only 17 per cent of patients without such a history (classified as idiopathic) had a recurrence by 20 months; recurrence in this group was 26 per cent by 36 months. Patients with no recurrence for 36 months did not have a recurrence after that time. Among idiopathic cases the risk of recurrence was increased in patients with generalized spike-wave electroencephalograms (50 per cent at 18 months) and in those who had a sibling with seizures (35 per cent at four months). Age at first seizure, sex, seizure type, onset with status epilepticus, or abnormality on neurologic examination did not affect the risk of recurrence.

Adult↗
PubMed1982

The risks of seizure disorders among relatives of patients with childhood onset epilepsy.

The risk of seizure disorders in relatives of patients with childhood-onset epilepsy was evaluated by a cohort study of the other descendants of parents of probands with epilepsy. The probands comprised 196 cases of idiopathic epilepsy and 60 individuals with isolated idiopathic seizures diagnosed among residents of Rochester, Minnesota, from 1935 to 1974. The risk of epilepsy through age 20 among the siblings and children of probands was 4.1%, three times the rate in the general Rochester population. The risk of any type of seizure (including isolated seizures, febrile convulsions, or seizures due to an acute cerebral insult) through age 20 was 11% in siblings and 13.1% in children of probands. The risks of seizure disorders among the nieces and nephews of probands were not greater than the general population rates.

Adolescent↗
PubMed1982

Empirical risk for insulin-dependent diabetes (IDD) in sibs. Further definition of genetic heterogeneity.

We have studied the effect of age at diagnosis in the proband and parental status [normal versus non-insulin-dependent diabetes (NIDD)] on the cumulative risk to age 40 (CR40) for insulin-dependent diabetes (IDD) in sibs of IDD probands in 493 families. We found a significantly increased cumulative risk to age 40 fro IDD in sibs of probands with disease diagnosed before age 10 (8.5 +/- 2.0%) as compared with that in sibs of probands with disease diagnosed after age 10 (4.6 +/- 0.8%) (X2 = 7.6, P = 0.006). Within the family subset with probands of earlier IDD onset (before age 10) we also found an increased CR40 for IDD in the sibs of the probands in families with an NIDD parent (with NIDD parent: CR40 = 7..5 +/- 2.0%, X2 = 12.8, P less than 0.0005). These data are compatible with the theory of heterogeneity (genetic and/or environmental) of IDD and a possible relationship between IDD and NIDD.

Adolescent↗
PubMed1982

Immune responses in vitro. XII. Two independently segregating loci control Mis product(s).

Distribution analyses of Misa in (BALB/c x DBA/2)F2 animals indicate that two independently segregating loci control the expression of Misa products. The results were dependent upon the use of x-irradiated cells a the antigen in MLR. The use of non-x-irradiated antigen in the MLR led to results that were uninterpretable because both DBA/2 and (BALB/c x DBA/2)F1 cells responded to x-irradiated BALB/c cells. Even though DBA/2 cells did not respond to (BALB/c x DBA/2)F1 cells, their reactivity to BALB/c cells indicates that the Misb of BALB/c is not null.

Alleles↗
PubMed1981

Dementia of the Alzheimer type. Clinical genetics, natural history, and associated conditions.

Relatives of 125 probands, who had dementia of the Alzheimer type as proved by autopsy, were subjects of a genetic investigation. The relatives exhibited an excess of dementing illness consistent with genetic transmission. Risk to relatives decreased sharply as severity of the proband's illness decreased. Also, when compared with a control group and the general population, the relatives had excesses of Down's syndrome, lymphoma, and immune diatheses. These associated conditions also were more likely to be present when the proband had severe illness. Mortality at all ages was increased among the relatives.

Adult↗
PubMed1980

The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).

Information was collected on 301 cases of the Wiskott-Aldrich syndrome in the United States and Canada Examination of available medical records, death certificates and published case reports on these patients showed that they came from a wide geographic area and many diverse ethnic and racial groups. No significant difference was found in the incidence of cases born between 1947 and 1976; the overall rate was 4.0 per million live male births in the United States. Median survival has increased with time from eight months for patients born before 1935 to 6.5 years for those born after 1964. Seventy-six of the 301 patients (25%) were still alive at last follow-up and ranged in age from 1 to 36 years with a median of 10 years. Causes of death were primarily limited to infections or bleeding, but malignancy represented a significant problem. Twelve percent of the group (36 of 301) developed malignancy, the predominant types being lymphorecticular tumors (23 of 36) and leukemia (7 of 36). The overall relative risk for malignancy was found to be greater than 100 times that of the general population and was found to increase with increasing age.

Adolescent↗
PubMed1980

Linkage analysis between the major histocompatibility system and insulin-dependent diabetes in families with patients in two consecutive generations.

We have histocompatibility (HLA) genotyped 28 families with insulin-dependent diabetics in two or more consecutive generations, usually parent and child. This strategy of ascertainment was used to maximize the likelihood of obtaining a homogeneous type of disease within a family, and an autosomal dominant mode of inheritance. 76 diabetics and 169 nondiabetics were studied in these families. The frequencies of the antigens Dw3 and Dw4, and the genotype Dw3/Dw4 among the diabetics are 59, 68, and 30%, respectively, as compared with 15, 12, and 2% in normal controls, and 43, 41, and 10% in the nondiabetic relatives of the diabetics. Dw2 is present in only one diabetic (4%), as compared with 18% in normal controls and 17% in nondiabetic relatives.HLA haplotype concordance was analyzed for sib pairs in relation to the haplotype shared by the affected parent/child pair, and for the diabetic sib pairs within each sibship. The results failed to reveal deviations in the expected HLA haplotype assortment. Assuming an autosomal dominant mode and several penetrance levels, linkage analysis between the HLA and diabetes was performed. The total lod score is 0.37 for a recombination fraction of 0.29 at 50% penetrance. Although the linkage and concordance analysis results are inconclusive, they seem to be different from those reported by us for families with normal parents and two or more diabetic sibs. Because ascertainment biases may have influenced these results in an unquantifiable manner, it is not certain whether the two types of families are genetically different. However, the marked difference in the lod scores for the 50% penetrant autosomal recessive model between the two types of families is compatible with a genetic dissimilarity between them. The high frequency of the Dw3 and Dw4 antigens, the Dw3/Dw4 genotype, and the decreased frequency of Dw2, however, indicate the existence of two or more important diabetic genetic factors associated with the D region of the HLA in these families.

Diabetes Mellitus, Type 1↗
PubMed1980

Hereditary esophageal dysfunction in the Miniature Schnauzer dog.

Miniature Schnauzers maintained in a colony for 9 years were used to study the inheritance of esophageal dysfunction (canine achalasia, megaesophagus). All dogs were evaluated radiographically, using a barium swallow contrast technique which clearly distinguished normal and affected pups. At 4 to 6 months of age, all affected dogs had recovered clinically except one, and radiographic evidence of dysfunction was markedly diminished. None of the affected dogs required a special feeding regimen. Analysis of breeding pairs revealed a ratio of 9 affected/11 normal dogs when an affected male was mated with a normal female, and a 13/3 ratio was observed when two affected dogs were mated. These ratios were compatible with a simple autosomal dominant or a 60% penetrance autosomal-recessive mode of inheritance. Outbreeding to an affected Miniature Schnauzer/Poodle crossbred dog resulted in only two of 30 affected pups, indicating a polygenic mode of inheritance in outbred populations.

Animals↗
PubMed1978

Analysis of linkage between the major histocompatibility system and juvenile, insulin-dependent diabetes in multiplex families. Reanalysis of data.

Linkage analysis between the major histocompatibility system (HLA) and juvenile, insulin-dependent diabetes, assuming an autosomal recessive mode and 50% penetrance was performed on 21 juvenile, insulin-dependent diabetic multiplex families (two or more diabetics per sibship) with phenotypically normal parents. The total lod score was the highest (3.98) at a recombination fraction of 13%. For a penetrance of 100%, the highest total lod score was 2.92 at a recombination fraction of 18%. These results are compatible with the existence of linkage between an autosomal recessive diabetic gene with 50% penetrance and the HLA in some of the families studied. Our ascertainment strategy would be expected to increase the likelihood of selecting for genetically homogenous diabetes and against sporadic forms of the disease. Thus, our findings may apply only to a small proportion of all cases of juvenile, insulin-dependent diabetes.

Diabetes Mellitus, Type 1↗
PubMed1977

The distribution of ancestral secondary cases in Parkinson's disease.

Recent evidence suggests a genetic mode of transmission of Parkinson's disease. A multifactorial mechanism is likely, but autosomal dominance with reduced penetrance has not been excluded. The distribution of ancestral second-degree relatives with Parkinson's disease was evaluated in 12 families. Affected relatives were bilaterally distributed more often than would be expected for autosomal dominance. The distribution of ancestral secondary cases suggests a multifactorial etiology for most cases of Parkinson's disease. The possibility of dominant gene inheritance in some families is not entirely ruled out.

Female↗
PubMed1976

Seizure disorders in offspring of parents with a history of seizures - a maternal-paternal difference?

If the patterns of seizure disorders in parents and offspring could be assessed accurately, some insight might be gained into the relative role of genetic and environmental factors in the development of convulsive disorders. In this study 908 children born in a Rochester, Minnesota hospital from 1922 through 1972 whose mother or father had a verified and classified diagnosis of seizure have been followed from birth for evidence of any convulsive episode or seizure disorder. The observed numbers of various types of convulsions in the offspring are compared to the expected the number based on local age-specific incidence rates. The outstanding finding was that a higher than expected number of children whose mothers had epilepsy also suffered from seizures (epilepsy or febrile convulsions), whereas no such increase was detected among the children of affected fathers.

Age Factors↗