Epidural fixation.
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Biomedical subjects
Publications and source records attributed to C Judge.
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AIM: to determine patency after successful lysis of occluded bypass grafts. METHODS: data were collected from four centres with a wide experience of thrombolysis. Outcome following successful lysis was determined from prospectively collected data or case notes. Data from 75 patients, 53 men, were analysed. RESULTS: median age at time of lysis was 68 years (range 33-88). Median age of graft was 12 months (range 1-120). Patency at 12 months was 33% (95% conf. interval: 21-44%). There were no differences in patency depending on whether the graft was above or below the inguinal ligament or whether an additional procedure eg. percutaneous or vein patch angioplasty was carried out. However in those 48 cases when lysis was deemed complete, i.e. there was restoration of graft patency and at least one vessel run off patency at 12 months was 39% compared with 17% if lysis was incomplete (p=0.04). CONCLUSIONS: at the present time it is difficult to justify routine thrombolysis of occluded grafts when patency, based on intention to treat, is approximately 20% at one year. Following successful graft lysis the role of anticoagulation and careful graft surveillance require further investigation.
Three families with confirmed and one family with suspected male transmission of the fragile X are presented, with psychological and physical assessment of all available members. The psychological tests used were the Peabody Picture Vocabulary test and Block Design which measured verbal and non-verbal abilities, respectively. Physical status was assessed by recording dysmorphic features and by anthropometric measurements. This study demonstrated that there are appreciable differences in mental and physical status within sibships of daughters of male carriers, as well as recognizable physical alterations and intellectual impairment in the transmitting males. These findings contradict the concept that there are two distinct categories of fragile X carriers: phenotypically normal as opposed to affected. They suggest instead that the defect may be graded and emphasize the importance of intellectual deficits and physical alterations in defining the fragile X phenotype, both in low-penetrant males and female heterozygotes.
Mental retardation has been associated with fra(X) but comprehensive psychological evaluation has rarely been applied to 2 major behavioral questions 1) the extent of individual variation in IQ among fra(X) males and the possibility of some fra(X) males being of normal IQ; and 2) whether there is a depression in general IQ or whether specific abilities are impaired. The problems of developing an effective battery of tests for assessing fra(X) are discussed. These questions were examined in 54 individuals, comprising fra(X) males, their obligate carrier mothers and those sisters shown to have the fra(X). Among noninstitutionalised males nonverbal IQ as measured on a Block Design test ranged from 100 to 0, and vocabulary scores while generally higher, ranged from 79-33. The males scored low on a digit span memory task, while performance on a memory of objects task was adequate. Despite lower overall scores, a similar pattern and variability emerged in institutionalised males. Daughters were extremely variable in performance and the mothers performed much better, supporting the view that women who have children are a selected subset of fra(X) syndrome individuals. The performance of one male is discussed in detail. His vocabulary and nonverbal IQ scores were normal, despite his having other specific cognitive deficits. The pattern of abilities and behavior seen in fra(X) may result in an overestimation of intelligence and underestimation of penetrance when based on clinical impressions rather than formal psychological assessment. The implications of this for molecular and for population genetic approaches to fra(X) are discussed.
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An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q arms of the X chromosome. Twenty retarded males and no retarded females were observed. All available live retarded males and most of their normal mothers were found to have the abnormal X chromosome. The marker chromosome was shown to be the X chromosome in each case by Giemsa banding. In affected male and female carriers the marker chromosome varied in appearance and was not present in all metaphases. The significance of this study in relation to previously reported pedigrees showing non-specific X-linked mental retardation is discussed.
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