Long-segment femoropopliteal stenoses: is angioplasty a boon or a bust?

Analysis of 193 femoropopliteal angioplasties demonstrated patency rates in the stenotic group of 75.5% at 6 months and 54.4% at 54 months. The patency rates for the occlusive group were 93.7% at 6 months and 72.9% at 54 months; these rates were significantly better than those in patients with stenoses. A group of 14 patients with long-segment (greater than 7 cm) stenosis had the highest risk of early failure, with a 6-month patency of 23.1%. After removal of the long-segment stenosis group from the results, there were no significant differences between the long-term patencies for stenotic and occlusive lesions. If angioplasty of long stenoses is attempted, a high initial success rate but early failure should be anticipated.     

重型颅脑损伤后高血糖82例

1　临床资料　 1996 - 0 8/ 1999- 0 8我科共收治重型颅脑损伤患者 82 (男 5 8,女 2 4)例 ,年龄 7～ 81(平均 32 .4)岁 .本组患者伤前均无糖尿病史 .GCS评分均 <8分 .其中 6～ 8分的 42例 ;3～ 5分的 2 8例 ;3分以下的 12例 .发病至入院时间均在2 4h以内 .应用美国产“One Touch”血糖仪每日在床旁测空腹血糖 1次[1 ] ,连续测 7d.对于空腹血糖 >10 mmol· L者 ,给予低糖饮食 ,不用激素 ,少量应用甘露醇 ,适当应用胰岛素及乳酸林格液等治疗 .在 82例中 ,首次测血糖值 >10 mmol· L[2 ] 的 49例 ,最高值为 19.4mmol· L ;经上述治疗 ,结果…     

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome

We have previously shown that patients with the Hunter syndrome frequently have suffered from a recombination event between the IDS gene and its putative pseudogene, IDS-2, resulting in an inversion of the intervening DNA. The inversion, which might be the consequence of an intrachromosomal mispairing, is caused by homologous recombination between sequences located in intron 7 of the IDS gene and sequences located distal of exon 3 in IDS-2. In order to gain insight into the mechanisms causing the inversion, we have isolated both inversion junctions in six unrelated patients. DNA sequence analysis of the junctions showed that all recombinations have taken place within a 1 kb region where the sequence identity is >98%. An interesting finding was the identification of regions with alternating IDS gene and IDS-2 sequences present at one inversion junction, suggesting that the recombination event has been initiated by a double-strand break in intron 7 of the IDS gene. The results from this study suggest that homologous recombination in man could be explained by mechanisms similar to those described for Saccharomyces cerevisiae. The results also have practical implications for diagnosis of patients with the Hunter syndrome.      

Anterior knee pain: the use of computerized tomography to assess the results of tibial tubercle transfer

Anterior knee pain is a common clinical problem. Patient assessment is difficult. Recently, it has been suggested that the so-called ‘skyline’ views of the patellofemoral joint have no role to play in screening for maltracking and some would suggest that computerized tomography (CT) offers a more accurate method of investigation. The aim of this study was to evaluate the performance of CT in the assessment of three populations: patients suffering form anterior knee pain, patients treated for this condition by tibial tubercle transfer and a control group. The patellofemoral joint was assessed by measuring the trochlear angle, the congruence angle and the patella tilt from the CT images. In summary, the preoperative group had significantly different values of each parameter when compared with other groups but the group that had undergone surgical correction did not demonstrate a significant alteration toward the values of the control group. This study suggests that CT was not useful as either a diagnostic tool or as a indicator of successful surgical outcome.     

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency

While the presence of a lipoyl-containing protein (protein X) separate from lipoyl transacetylase in the pyruvate dehydrogenase complex (PDC) has been known for some time, until recently only the cDNA for the yeast enzyme has been cloned. We have cloned, sequenced and characterized the cDNA encoding the human protein X and localized the protein X gene to chromosome 11p13. We also report here a new case of protein X deficiency identified immunologically, with decreased activity of PDC and without mutations in the E1alpha subunit or E1beta subunit. We report that the cDNA and gene of this patient for protein X has a homozygous 4 bp deletion, specifically in the putative mitochondrial targeting signal sequence which results in a premature stop codon. This is the first documented case of a molecular defect in pyruvate dehydrogenase protein X.