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Biomedical subjects

R N Schimke

Publications and source records attributed to R N Schimke.

13 recordsLinked to original sources
PubMed1992

Case report: breast cancer in males--a genetic consideration.

For many years, it has been recognized that a portion of female breast cancer is inherited. More recently, the probable contribution of heredity to at least a subset of male breast cancer also has surfaced. This report, which describes affected brothers, a half sister, and the common paternal grandmother, provides further support for the role of genetic factors in male breast cancer. Also noteworthy was the presence of prostate carcinoma in the sibling with bilateral disease and in the unaffected father.

Adult↗
PubMed1979

Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient.

A 26-year-old woman had a neuroblastoma during infancy; an extra-adrenal pheochromocytoma at age 16 years, with hepatic recurrences during the next ten years; and multifocal renal cell carcinoma. Neuroblastoma and pheochromocytoma, despite their common embryologic origin, to our knowledge have not been previously reported as separate tumors in the same patient. Although many attributes of the patient's tumors suggest a hereditary disorder, thorough investigation disclosed no evidence of heritable conditions associated with any of these tumors in the patient or her family members. Long-term observation of persons surviving after treatment of neuroblastoma will be necessary to determine whether this case represents a previously unidentified tumor predisposition or a sporadic occurrence.

Adenocarcinoma↗
PubMed1977

Gonadal dysgenesis with Graves's disease.

Hashimoto's thyroiditis has previously been associated with gonadal dysgenesis. Recent evidence suggests that Graves's disease and Hashimoto's thyroiditis are disorders of cell-mediated immunity and may have a common genetic predisposition. However, patients with both Graves's disease and the Turner syndrome have been reported only rarely. Three such cases are presented and the relation among gonadal dysgenesis, Hashimoto's thyroiditis, and Graves's disease is discussed.

Adolescent↗
PubMed1976

Familial acute myelogenous leukemia with associated C-monosomy in two affected members.

A family is described in which five members, three sibs in one branch and two sib cousins in another, died of acute myelogenous leukemia. C-Monosomy was found in the marrow of two of the sibs. C-deletion aneuploidy has been increasingly reported in conjunction with abnormal myelopoiesis. It is possible that this chromosomal aberration may serve as a useful clinical marker of the emergence of a leukemic state.

Adolescent↗
PubMed1976

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.

Analysis of 9 cases of bilateral bent limbs (campomelia) and dwarfism, as well as a review of the literature, indicate that campomelic syndrome appears to be a well-defined distinct disorder which the authors call long-limbed campomelic syndrome. Other neonates with congenital bent-limbed dwarfism can be classified as having short-limbed campomelic syndrome, and among these at least two distinct forms have been delineated--the craniosynostotic and the normocephalic form. Congenital bent bones also occur in a variety of generalized disorders of ossification that must be distinguished from these well-defined types of campomelic dwarfism.

Abnormalities, Multiple↗
PubMed1976

Genetics in cystic kidney disease.

It has become obvious that consideration of only pathological anatomy gives little insight into the pathogenesis of cystic kidney disease. Better markers are required before an adequate system of classification can be developed. Once nosologic separation has been effected, specific diseases can be studied in more detail and an attempt can be made to elucidate the fundamental molecular abnormality. Genetic factors may be extremely useful in defining discrete disease entities; unfortunately, they have been too frequently disregarded by workers in the field. If progress is to be made in the area of structural abnormalities of the kidney, the common efforts of nephrologists, pathologists, physiologists, and geneticists will be required.

Abnormalities, Multiple↗
PubMed1976

Multiple endocrine adenomatosis syndromes.

MEA I and II are two genetically distinct tumor endocrinopathies, both showing autosomal dominant inheritance. Little overlap exists between these conditions, and that which is present can be explained on the basis of two mutually exclusive factors: (1) the secondary consequences of hormone excess on another endocrine gland or (2) the fact that both tumor syndromes appear to result from genetically faulty differentiation of neuroectoderm. A seemingly disproportionate amount of effort has been expended on study of the MEA syndromes. However, there would seen to be ample justification for this interest: 1) The MEA syndromes, unlike most neoplastic conditions, are hereditary and can be readily detected and more expeditiously treated; 2) hormone radioimmunoassay has greatly facilitated diagnosis in asymptomatic individuals; and (3) probably most importantly, study of these syndromes has provided considerable insight into the embryologic origin of the endocrine system. It is conceivable that knowledge gained from these conditions may stimulate further inquiry into the processes whereby neoplasia occurs in endocrine tissue and thus lead the way to the development of effective therapy for a host of hormone-producing tumors.

Adenoma↗
PubMed1976

Heterogeneity in the campomelic syndromes: long and short bone varieties.

There appears to be definite heterogeneity within the campomelic syndromes. We are broadly classifying these into the classic or long bone campomelic syndromes and 2 distinct short bone varieties designated as the normocephalic short-boned and craniosynostotic short-boned types, respectively (Table 1).

Dwarfism↗
PubMed1975

Carpal tunnel syndrome in pediatric mucopolysaccharidoses. Report of four cases.

Four pediatric patients with mucopolysaccharidoses and an associated carpal tunnel syndrome are presented. Findings in these cases were typical of the adult form of median nerve compression at the wrist, but the patients had minimal symptoms in view of these findings. The importance of careful clinical eximination and early surgical decompression is emphasized.

Carpal Tunnel Syndrome↗