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Biomedical subjects

R M Goodman

Publications and source records attributed to R M Goodman.

At least 127 records · Page 7Linked to original sources

Benign familial haematuria in children from the Jewish communities of Israel: clinical and genetic studies.

Over 7 years, 130 children were referred for prolonged isolated haematuria of unknown cause. In 34 instances, haematuria was also found in one or more family members. In 23 of these families (18% of all referrals for isolated haematuria), investigation and follow-up, for periods of 5 to 10 years, of the index cases and of 56 haematuric relatives showed no evidence of renal disease and no other pathological findings. These subjects were diagnosed as having benign familial haematuria. The gene for benign familial haematuria is apparently transmitted as an autosomal dominant with reduced penetrance and variable expressivity. In Israel, the disorder seems to be more frequent among Jews of non-Ashkenazi descent than among those of European ancestry (Ashkenazim).

Adolescent↗

Primary retinal dysplasia transmitted as X-chromosome-linked recessive disorder.

The familial occurrence of retinal dysplasia in five affected male children suggested X-chromosome-linked recessive inheritance. The clinical features were childhood onset, severe visual impairment, head posture, nystagmus, and strabismus. The ophthalmoscopic findings varied in shape and extension; they ranged from retinal folds to dysplastic tissue covering the posterior pole or gliosis with tumor-like protrusion in the vitreous. The marked variability of the retinal findings was paralleled by the visual acuity, which ranged from some vision to blindness. Electroretinograms coordinated well with ophthalmoscopic observations. Of the five mothers, who are the presumed heterozygous carriers, two showed retinal changes.

Blindness↗

Analysis of terminal structures of RNA from potato virus X.

The 5'-end structure of potato virus X RNA was determined following enzymatic methylation in vitro. A single 3H-methyl group was introduced into the 2'-position of the 5'-penultimate residue and the end structure was determined as m7GpppG(m)pAp(Xp)3G. This part of the RNA apparently is involved in binding to ribosomes since it can be partially protected against RNase digestion by wheat germ 40S ribosomes. PVX RNA was not retained by poly(U)-sepharose, indicating that it does not contain a 3'-terminal poly(A) tract.

Base Sequence↗

Effects of S-carboxymethylcysteine on tracheal mucus velocity.

The effects of S-carboxymethylcysteine on tracheal mucus velocity were assessed in a double blind crossover study between 2 grams S-carboxymethylcysteine and placebo. Subjects included six healthy non-smokers, eight smokers with small airway disease and chronic simple bronchitis, and eight subjects with chronic obstructive bronchitis. Tracheal mucus velocity was measured prior to and two and three hours after each subject had ingested S-carboxymethylcysteine or placebo. No significant change in tracheal mucus velocity occurred after placebo or S-carboxymethylcysteine in any of the groups, indicating that the drug has no acute effect on mucus transport.

Adult↗

Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim.

An effort was made to identify all individuals with Bloom's syndrome living in Israel between September 1971 and September 1972. Each of the eight individuals located were Jewish and could readily be classified Ashkenazic. The frequency of the Bloom's syndrome gene in Ashkenazim was estimated to be .0042 (minimum), implying a heterozygote frequency greater than 1 in 120. A striking distortion of the sex ratio (M/F = 7.0) may have been due to underascertainment of affected females. One of the affected individuals ascertained during the survey subsequently has died from cancer, which is in keeping with the recognized cancer proneness of this condition. Four of the affected have married, but no conception is known to have occurred, which suggests that sub- or infertility is a feature of the syndrome.

Adult↗

Assembly of flexuous plant viruses and their proteins.

Recent experiments on the disassembly and assembly of some flexuous plant viruses and their proteins are described. The properties of reconstituted potato virus X and those of assembled potato virus Y protein are considered as well as the suitability of other flexuous viruses for reconstitution studies.

Plant Viruses↗

Hormone-induced alterations in nonhistone protein. Methylation and phosphorylation in Sciara coprophila.

Methylation and phosphorylation of chromosomal nonhistone protein (NHP) has been demonstrated in the salivary gland cells of diptera [5, 7] and implicated in the control of gene expression [35, 36]. Furthermore, hormones can stimulate methyl and phosphoryl side chain metabolism and thus enhance template activity. Salivary glands from late fourth instar female larvae of Sciara coprophila (cortisone-supplemented and normal diet) were incubated in 3H-uridine (10 muCi/ml), 3H-thymidine (10 muCi/ml), 3H-methyl-methionine (20 muCi/ml), 35S-methionine (10 muCi/ml) and 32P-orthophosphate (1 mc/ml), for varying time periods, to measure RNA synthesis, DNA synthesis, methylation, protein synthesis and phosphorylation, respectively. Following selective extraction of lipid, histone and nucleic acids, glands were prepared for light microscope autoradiography. A more specific labelling pattern, as well as increased grain number on particular bands, interbands and bulbs, was noted on chromosomes from cortisone-fed larvae incubated in 3H-methyl-methionine for 1 min when compared with larvae on the standard diet. Cortisone also increased RNA synthesis and nucleoprotein phosphorylation, but not DNA or protein synthesis. In summary, cortisone enhances the specificity and degree of NHP methylation and phosphorylation at discrete chromosomal loci, i.e. alterations in side chain metabolism which may be responsible for increased RNA synthesis.

Animals↗

Congenital malformations in four siblings of a mother taking anticonvulsant drugs.

Four siblings have various congenital malformations attributable to the teratogenic effect of anticonvulsant drugs. Their mother has 23-year history of continuous medication for seizures. Since the malformations noted in her four offspring are more extensive and severe in each subsequent child, the question arises as to the possible cumulative effect of antiepileptic drugs in producing congenital malformations. The observations in this family strongly support the need to carefully evaluate all offspring of mothers receiving anticonvulsant drugs.

Abnormalities, Drug-Induced↗

Pinwheel inclusions in morphogenesis: a possible alternative to induction by viruses.

Pinwheel inclusions (PWs) were found in cells of callus tissue derived from explants of secondary phloem parenchyma of carrot (Daucus carota) storage root and grown on a basal medium containing zeatin and indoleacetic acid or coconut milk, naphthalene acetic acid, or combinations of these. Preliminary attempts to demonstrate the presence of viruses in the callus tissue failed. The possibility that the tissles were infected by a low titer or unstable conventional virus or by a defective mutant has not been ruled out. However, two lines of evidence suggest that the PWs in these tissues may be a result of culture conditions and not of virus infection. First, no PWs or other cytoplasmic inclusions were found in cells of otherwise similar tissue cultured on basal medium alone, and multifibrillar bundles (MFBs) but not PWs were found when the tissues were cultured on a medium that stimulates differentiation and morphogenesis. Second, culture stimulated to differentiate and containing MFBs only were returned to the supplemented basal medium and subsequently found to contain both PWs and MFBs.

Culture Media↗

The effect of ecdysterone on nonhistone proteins in salivary gland chromosomes of Sciara coprophila.

Synthesis and transport of proteins to the cell nucleus during puff induction was studied in S. coprophila. Changes in grain distribution along chromosomes (L-methionine [35S] incorporation into protein) were correlated with puffs induced by ecdysterone in vitro; A pattern of specific labelling at the sites of incipient puffs was noted within 2 h after the addition of the hormone, i.e. grains on the chromosomes were in clusters, characteristic for this time point and not seen in the controls (where only non-specific labeling was noted 0-4 h). Characteristic chromosomal puffs appeared between 3-4 h after the addition of ecdysterone. It was concluded that during ecdysterone-induced puff formation in salivary gland chromosomes, proteins which had been previously synthesized were selectively transported from the cytoplasm to specific sites on the chromosomes.

Animals↗