Effects of the inhibition of DNA synthesis on hypertrophying skeletal muscle.
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Biomedical subjects
Publications and source records attributed to S Kaufman.
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A 63 year-old patient with pancytopenia aplastic bone marrow of several years duration and incomplete response to anabolic steroids is reported. The bone marrow biopsy reveals within lymphoid areas, a refringent pigment proved by microanalysis to be a gold salt.
Ten clinical observations concerning six families with familial myeloproliferative disorders are reported. Family no. 1 : two brothers, RES with myelosclerosis and ROS with chronic myeloid leukemia. Family no. 2 : PG atypical myeloproliferative syndrome and his brother polycythemia vera. Family no. 3 : DF myelosclerosis and her son (DR) polycythemia vera. Family no. 4 : DM, polycythemia vera, the mother and a sister with splenomegaly. The brother died with myelofibrosis. Family no. 5 : GA and ML, cousins with polycythemia vera. Family no. 6 : MB and ZG, a brother and sister with polycythemia vera. No consanguinity and no toxic, infections or malignant etiology were found in these families. The literature reviewed emphasises the rarity of the familial incidence of myeloproliferative disorders.
Twenty-one patients with squamous cell carcinoma of oral cavity and/or cervical lymph node and four patients with soft tissue sarcomas were given intralesional (2-4 mg/m2) and intralymph node (2-4 mg/m2) C. parvum injections followed by 5 intravenous (2-4 mg/m2) C. parvum treatments and conventional therapies. Seven patients with Stage III ovarian carcinomas were given intraperitoneal (2-4 mg/m2) C. parvum injections followed by conventional therapies. The local and systemic effects of the C. parvum treatments were described and the anti-tumor effects were evaluated in this series of patients.
A severe deficiency of dihydropteridine reductase (DHPR) in liver, brain, and cultured skin fibroblasts was demonstrated in a child with hyperphenylalaninemia and an atypical form of phenylketonuria. DHPR is required for regeneration of the cofactor, tetrahydrobiopterin. The cofactor is essential in hydroxylation of aromatic amino acid precursors in the biosynthesis of neurotransmitters, serotonin, dopamine, and norepinephrine. In gray tissue at brain biopsy, dopamine was low at 3 ng per gram of tissue, serotonin was barely detected, and norepinephrine appeared high at 1600 ng per gram. In cerebrospinal fluid, homovanillic acid (HVA) was low normal at 33 ng/ml, 5-hydroxyindoleacetic acid (5-HIAA) was low at 4.2 ng/ml, and after a high dose of oral probenecid there was impaired accumulation of HVA to 128 ng/ml and 5-HIAA to 22.4 ng/ml. When the patient was 22 months of age, treatment with hydroxylated aromatic amino acid precursors was initiated, and after three months HVA and 5-HIAA levels were increased in CSF. The apparent restoration of biogenic amines in brain appears to have delayed the rate of neurological deterioration. DHPR activity in cultured skin fibroblasts of children with persistent hyperphenylalaninemia should permit early diagnosis and early treatment of this disorder.
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The TNM concept is beset by frequent revisions, ambiguities, and incomplete coverage of tumor sites. A study comparing clinicians' classifications with computer-derived TNM classifications yielded discrepancies ranging from 44 per cent in T designations to 25 per cent in N designations, of which 35 per cent and 20 per cent, respectively, are ascribable to clinician error. To remedy these problems, it is proposed that clinicians record basic clinical data on standard forms covering the most relevant information. These forms can substitute for existing office and hospital records, thus avoiding added paperwork. TNM classification and staging may be subsequently generated from the recorded data. This two stage process affords the flexibility of applying common TNM systems for comparison of diverse clinical series while preserving the original basic data for alternative uses. Proposed data forms cover tumor characteristics, involved sites, palpable nodes, vocal cord mobility, nerve dysfunction, distant metastasis, and pretreatment diagnosis.
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Instruction in self-examination for early signs of orofacial cancer was given to over 450 persons attending a large county fair in western New York State. Participants received one-on-one instruction from dentists or specially trained dental hygienists according to a protocol designed to detect abnormalities of the oral cavity, cervical lymph nodes, and major salivary glands, as well as facial skin cancers. This method of personal instruction was judged feasible for large-scale application.
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A patient with combined deficiency of erythrocyte glucose phosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) is presented. The propositus has persistent unconjugated hyperbilirubinemia. One of his two brothers exhibits the same rare enzymatic defect, but without any clinical symptoms. The electrophoretic pattern of GPI showed GPI type 1. There seems to be a correlation between the unconjugated hyperbilirubinemia and the combined enzymopathy in our patient.
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