Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).
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Biomedical subjects
Publications and source records attributed to C M Hall.
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Three cases of lethal short-rib polydactyly syndrome of the Majewski type are presented. All three cases were the products of first-cousin marriages. Two of the cases were siblings; three more of their siblings also showed signs of this abnormality but their cases were incompletely documented. The three reported cases are compared with five fully documented cases that have been presented by other authors.
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A child with Werner's mesomelic dysplasia is presented. She has five fingers on each hand with absent thumbs and seven toes on each foot. There is posterior dislocation at the knees and mild tibial dysplasia. The child also has a ventricular septal defect (VSD) and Hirschsprung's disease. This is the first case reported of Werner's mesomelic dysplasia associated with systemic malformations.
A case of juvenile hyaline fibromatosis in a ten-year-old Asian girl is presented. This autosomal recessively inherited condition has not previously been described in the radiological literature. This patient demonstrates well the characteristic radiological appearance. The literature of juvenile hyaline fibromatosis and of the other generalized fibromatoses is reviewed and the interrelationship is discussed.
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Five infants with intrathoracic transdiaphragmatic duplication cysts are presented. Diagnosis was possible from the combination of several features on plain chest radiographs: (a) right-sided cystic areas lying posteriorly in the chest, (b) lower cervical or upper dorsal spinal dysraphism, and (c) unusual gas collection beneath the right hemidiaphragm. Barium studies, positive-contrast myelography, and computed tomography were helpful in preoperative assessment.
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A series of dialkyl N,N'-(m-phenylene)dioxamates was synthesized by treatment of the requisite m-phenylenediamines with an alkyloxalyl chloride in the presence of triethylamine. Hydrolysis with sodium hydroxide solution gave the corresponding N,N'-(m-phenylene)dioxamic acids. Several N,N'-(p-phenylene)dioxamic acids were synthesized also in the same manner starting with the requisite p-phenylenediamines. These compounds were tested in the rat passive cutaneous anaphylaxis (PCA) assay. When tested iv, activity was found in the N,N'-(m-phenylene) dioxamic acids up to 2500 times that shown by disodium cromoglycate [50% inhibition at 0.001 mg/kg for N,N'-(2-chloro-5-cyano-m-phenylene)dioxamic acid (compound 61)]. Oral activity was seen in this series of compounds with duration of activity up to 120 min. Oral activity was detected in diethyl N,N'-(2-chloro-5-cyano-m-phenylene)dioxamate (compound 38) at levels of drug as low as 0.1 mg/kg.
Ab initio Hartree-Fock SCF calculations with the molecular fragment technique have been performed on several drugs which exhibit activity in the rat passive cutaneous anaphylaxis (PCA) assay. Representative molecules of the following types were included in the series: oxanilic acids, 1,4-dihydro-4-oxoquinaldic acids, and 4-oxo-4H-1-benzopyran-2-carboxylic acids. A quantitative relationship has been established between the observed biological activity and an electronic index obtained from the calculations. The correlation is rationalized in terms of charge-transfer stabilization of the drug-receptor complex.
A series of compounds containing two or more 4-oxo-1,4-dihydropyridine-2-carboxylic acid units fused to a central aromatic nucleus was synthesized and tested in the rat passive cutaneous anaphylaxis (PCA) assay for potential antiallergy activity. Most of the compounds of this series showed significant activity in the PCA assay. Three of these compounds. 11d, 13f, and 21, were more than 250 times as active as the standard drug, cromolyn sodium. The synthesis and biological activity are discussed.
Clinical and radiographic features of seven cases of cranio-carpo-tarsal dysplasia are presented. Radiographs show bilateral dislocation of the hips, bilateral vertical talus deformity hand deformities, and characteristic skull changes.
This manuscript if one of a series of investigations into modifying the pharmacologic properties of the antitumor, antiviral, and immunosuppressive nucleoside ara-cytidine (cytarabine, Cytosar). The present paper summarizes our studies on depot ester derivatives of the nucleoside. We are able to predict with reasonable accuracy the biological activity as measured by increased life span in the L1210 leukemic mouse from a combination of two predictor variables: (1) the solubility of the ester in water and (2) its rate of hydrolysis by the mixed esterase system of animal plasma. We have tried unsuccessfully to correlate enzymatic hydrolysis rates with an alkaline hydrolysis model. Calculated Hansch partition (p) values had a correlation of r equal to 0.86 with water solubility. These p values had no additional predictive value. Based on our results, two esters were selected for clinical trial in cancer and rheumatoid arthritis.
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