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Biomedical subjects

F Hecht

Publications and source records attributed to F Hecht.

At least 37 records · Page 2Linked to original sources
PubMed1990

Cancer in ataxia-telangiectasia patients.

A gene locus for ataxia-telangiectasia (A-T) is in chromosome region 11q22 to 11q23 and predisposes to cancer. Ataxia-telangiectasia patients appear to have two separate clinical patterns of malignancy. One pattern involves solid tumors, which have not been stressed and which include malignancies in the oral cavity, breast, stomach, pancreas, ovary, and bladder. Detection of a solid tumor in an A-T patient should serve as a warning. It heralds a markedly elevated risk of another malignancy in that patient. The second pattern of neoplasia in A-T is well recognized and consists of lymphocytic leukemia and non-Hodgkin's lymphoma. These malignancies may relate to immunodeficiency in A-T and to chromosome breakage and rearrangement, which are a feature of A-T. These two patterns of malignancy may be truly separate and reflect different mechanisms of malignancy in A-T, or they may not really be separate but instead reflect a single mechanism of malignancy. The situation in A-T is reminiscent of that in the acquired immunodeficiency syndrome (AIDS), in which Kaposi's sarcoma occurs with mild immunodeficiency and pneumocystis carinii pneumonia occurs with more profound immunodeficiency owing to the human immunodeficiency virus. Next to pulmonary disease, cancer is the leading cause of death in A-T.

Ataxia Telangiectasia↗
PubMed1990

A guide to fragile sites on human chromosomes.

This is a guide to 107 fragile sites, all those considered at the most recent International Workshop on Human Gene Mapping, HGM 9.5, held in 1988. The chromosome band locations of all 107 fragile sites are given, together with their gene symbols, frequency, mode of induction, and status. The majority of these fragile sites are common ones induced to expression by aphidicolin. Fragile sites are nonrandomly distributed within the genome. Chromosome 3 is especially short of known fragile sites. Chromosome 21, the chromosome triplicated in Down syndrome, has no known fragile sites.

Aphidicolin↗
PubMed1990

Chromosome localization of human ARH genes, a ras-related gene family.

The human ARH genes (previously called RHO) share several properties with the ras gene family. Three members of the ARH family, the H6, H9, and H12 genes, have been localized to human chromosomes 2, 5, and 3, respectively. Analysis of DNAs from a rodent-human somatic cell hybrid panel demonstrates linkage of H6 to chromosome region 2p12----2pter and H9 to region 5q33----5qter. In situ chromosome hybridization also showed that the primary site for H9 is in the 5q31----qter region. The H12 gene was some-what difficult to localize using rodent-human hybrids because the probe detects a family of rodent genes as homologous to the human probe as in the human cognate gene. However, chromosome in situ hybridization revealed grains clustered in region 3p14----3p22 with a significant peak in band 3p21. We conclude that H6 is in 2p12----pter, H9 in 5q31----5qter, and H12 in 3p21.

Animals↗
PubMed1990

Bes, Aesop and Morgante: reflections of achondroplasia.

The past perception of achondroplasia is reflected in art, beginning about 2000 B.C. Achondroplasia is thought to have provided a model for the representation of a series of figures including the Egyptian god Bes, the Greek teller of fables Aesop, and the Renaissance giant of fiction Morgante. Since these figures were basically viewed as good, the hypothesis is advanced that achondroplasia was perceived as a positive, not a negative, condition during at least part of the past four millenia.

Achondroplasia↗
PubMed1990

Winglets of the eye: dominant transmission of early adult pterygium of the conjunctiva.

A pterygium, a wing-like thickening, of the bulbar conjunctiva is of environmental interest because it can occur on prolonged exposure to wind and weather. We describe a family with pterygium in two generations without a history of unusual exposure to the elements. There were six females and five males (including a set of male twins) with seven bilateral and four unilateral pterygia. The onset was unique in being in early adulthood, from the late teens through the twenties. This new genetic form can be distinguished by the age of onset from congenital and mid-adult pterygia, which are inherited as autosomal dominant traits. Irrespective of age, the treatment of conjunctival pterygium is surgical excision.

Adult↗
PubMed1990

[Therapeutic diagram in advanced cancers of the esophagus].

Only palliative treatment may be contemplated when advanced oesophageal cancers present with dysphagia. Operability depends on respiratory, hepatic and nutritional status. Resectability may be assessed on the information provided by bronchoscopy, thoracic CT scan and surgical exploration. Advanced resectable oesophageal cancers require oesophagectomy without thoracotomy and radiotherapy. We performed 93 oesophagectomies in 106 advanced oesophageal cancers with a mortality rate of less than 2%. Non resectable advanced oesophageal cancers require bypass procedures. We performed 13 in the 106 cases. Inoperable advanced oesophageal cancers require radiotherapy in the absence of a fistula, laser therapy or an endoprosthesis for dysphagia.

Colon↗
PubMed1989

Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome.

The cause of this syndrome remains unknown. Epidemiologic studies should be done by experts. The first two cases above gave a "muddy" history for possible teratogens--a "recall bias"--one of a vaginal foam spermicide, one of exposure over several days to a heavy residue of aviation diesel fuel exhaust. We do not think these are pertinent but they do point to the problem of getting a meaningful history. In addressing this problem (in a letter of 5/27/82) R.J. Berry, M.D., medical epidemiologist, Centers for Disease Control, Atlanta, Georgia, wrote "... a designed study providing standardized interview forms with controls could be designed if cases continue to appear." Since this seems to be the case, perhaps this approach should be embraced. A teratogen(s) appears to be a good bet since the condition was recognized suddenly with the first Montana case in February, 1978. Even though no record has been found in the files of the Armed Forces Institute of Pathology, Children's Hospital Automated Medical Programs (CHAMP), Montreal or Wisconsin and one or two other places, it might be worthwhile to look back at all cases of imperforate anus which have come to autopsy for possible associated CNS lesions. We may be deluding ourselves in considering the condition as "new." Chromosomes were usually studied in lymphocytes, once on the tumor and once or twice on marrow. It might be well to do more than one tissue in all new cases. Once again there appears to be no "obligatory" finding for any one syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Endocrine Glands↗
PubMed1989

Not all chromosome imbalance resulting from the 11q;22q translocation is due to 3:1 segregation in first meiosis.

The constitutional translocation between chromosomes 11 and 22 [t(11;22)(q23.3;q11.2)] is one of the best known rearrangements in the human genome. Hitherto only one type of unbalanced karyotype, namely 47,XX or XY, +der(22) t(11;22)(q23.3;q11.2) was found among offspring of the translocation carriers. This result is the product of a 3:1 segregation at meiosis. We report an alternative unbalanced karyotype. The proband's karyotype is 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22)(q23.3;q11.2)pat. This finding cannot be due to nondisjunction in first meiosis of the translocation carrier.

Chromosome Banding↗
PubMed1989

A 1.5-megabase restriction map surrounding MYC does not include the translocation breakpoint in familial renal cell carcinoma.

A constitutional translocation t(3;8)(p14.2;q24.1) segregates concordantly with a familial form of renal cell carcinoma (RCC). This translocation moves the MYC oncogene, located at 8q24.1, onto the short arm of chromosome 3. Chromosome rearrangements that break in or near MYC can result in altered expression of this gene and are thought to be a primary change leading to the transformed phenotype in certain neoplastic diseases, particularly Burkitt lymphoma. Possible rearrangements of this gene in familial RCC have so far not been detected using standard Southern blot analysis. We used pulsed field gel (PFG) analysis to construct a restriction map that covers a 1500-kb region surrounding MYC, including over 1000 kb to the 5' and 550 kb to the 3' side of this gene. The 5' end of MYC contains a cluster of cleavage sites for rare-cutting restriction endonucleases, indicating the presence of an HTF island. PFG analysis of DNA containing the t(3;8) rearrangement shows that the breakpoint is not located in the mapped region, making it unlikely that MYC is involved in this form of renal cell carcinoma. The map should facilitate study of other chromosome 8 rearrangements thought to break near MYC.

Carcinoma, Renal Cell↗