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Biomedical subjects

B K Hecht

Publications and source records attributed to B K Hecht.

At least 19 recordsLinked to original sources

X;6 translocation in a child with congenital acute lymphocytic leukemia.

A case of congenital acute lymphoblastic leukemia (ALL) displayed an X;6 translocation. This is the third reported case of ALL with an X;6 translocation. In addition, two of the three ALL cases occurred during infancy, at ages 2 months and newborn, and both translocations involved the band q15-16 region of chromosome 6. Anomalies of the long arm of chromosome 6, mainly interstitial and terminal deletions, have been reported as a recurrent karyotypic event in a significant number of ALL cases. The molecular basis and propensity of an X;6 rearrangement in this case of congenital ALL is unclear and merits further investigation. The similarities in this case and the other infant ALL case cited suggest that an X;6 rearrangement with a breakpoint in bands q15-16 of chromosome 6 is characteristic of a form of congenital ALL.

Bone Marrow

Creativity in medical genetics and dysmorphology.

One gauge of creativity in medical genetics and dysmorphology is the eponym. Conditions named for people reflect their powers of observation and analysis. We examined the fields and ages of 210 eponymous physicians and scientists whose biographies were published by Peter and Greta Beighton [1986] in The Man Behind the Syndrome. Twenty fields were represented with the dominant fields being, in order, pediatrics, neurology, general and internal medicine, pathology, radiology, and orthopedics. The ages of the eponymous workers averaged 43 years at the time of their relevant publications. Fully a fifth of the contributions were made by persons aged 30 years or less, or 60 years or more, suggesting that eponymous fame may come to workers of talent independent of age.

Adult

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