Deletion of the long arms of chromosome 18 (46,XX,18q-) associated with absence of IgA and hypothyroidism in an adult.
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Biomedical subjects
Publications and source records attributed to C R Paterson.
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To study the problem of new bone formation in myelosclerosis bone biopsies have been performed in cases of polycythaemia vera, which may be regarded as a pre-myelosclerotic condition, and in primary myelosclerosis; morphological studies of bone and reticulin were made and osteoid and bone matrix was quantitatively assessed. Relevant metabolic studies were also carried out, but were predominantly normal. No new bone formation was detected in polycythaemia vera and some bone was osteoporotic; no significant increase in osteoid was found. With the use of polarized light it was found that new bone formation in myelosclerosis resulted from the ossification of wavy argyrophilic fibres in marrow: the presence of a dense network of these wavy fibres was a pre-requisite of new bone formation and ossification of the non-refractile branched reticulin fibres was not observed.
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1. This paper reports studies on the metabolism of bone from normal chicks and from chicks with vitamin D-deficiency rickets. Both in vitro and in vivo there was an increased incorporation of [(14)C]proline into collagen hydroxyproline by rachitic bone. The proportion of the collagen that was soluble in cold salt solutions was greater with the rachitic bone. These results show that in rickets there is an increased synthesis of bone collagen, but they do not provide any evidence of a defect in the maturation of collagen. 2. Rachitic bone incubated aerobically in vitro consumed more glucose and released more lactate than normal bone. Bone from rachitic chicks treated with vitamin D 48hr. previously had rates of glycolysis that were nearly normal. Though we were unable to show any direct action of vitamin D in vitro, we consider that vitamin D probably has a direct action on bone, possibly related to matrix biosynthesis.
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We studied the radiographs of 194 fractures sustained by 39 children less than 5 years of age with osteogenesis imperfecta (OI) and compared them with radiographs of 84 fractures sustained by 69 normal children of the same age. A great variety of fracture patterns was observed in undoubted OI. Spiral and transverse fractures were the most common. Metaphyseal fractures accounted for 15% of the fractures. The results of this study do not support the view that a particular fracture pattern renders the diagnosis of OI unlikely.