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1.
Katharine R. Owen Mollie Donohoe Sian Ellard Andrew T. Hattersley 《Diabetic medicine》2003,20(10):823-827
Background Familial partial lipodystrophy (FPLD) is a monogenic form of diabetes characterised by a dominantly inherited disorder of adipose tissue associated with the loss of subcutaneous fat from the limbs and trunk, with excess fat deposited around the face and neck. The lipodystrophy causes severe insulin resistance, resulting in acanthosis nigricans, diabetes, dyslipidaemia, and increased risk of cardiovascular disease. Preliminary results from animals and man suggest that increasing subcutaneous fat by treatment with thiazolidinediones should improve insulin resistance and the associated features of this syndrome. Case report We report a 24-year-old patient with FPLD caused by a mutation in the LMNA gene (R482W) treated with 12 months of rosiglitazone. Subcutaneous fat increased following rosiglitazone treatment as demonstrated by a 29% generalised increase in skin-fold thickness. Leptin levels increased from 5.8 to 11.2 ng/ml. Compared with treatment on Metformin, there was an increase in insulin sensitivity (HOMA S% 17.2–31.6) but no change in glycaemic control. The lipid profile worsened during the follow-up period. Conclusion This initial case suggests that, for modification of cardiovascular risk factors, there are no clear advantages in treating patients with FPLD with rosiglitazone despite increases in subcutaneous adipose tissue. Larger series will be needed to identify moderate beneficial effects and treatment may be more effective in patients with generalised forms of lipodystrophy. 相似文献
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S. F. Leavey J. J. Walshe D. O’Neill N. Atkins J. Donohoe D. Hickey M. Carmody 《Irish journal of medical science》1997,166(4):245-248
The importance of certain positive crossmatches (CM+) in kidney transplantation remains controversial. Fifty consecutive kidney transplants were performed across a CM+ between Jan. 1990 – April 1994. In 19 cases there was an isolated B-cell CM+ (Group I), in 24 an historic T-cell IgM CM+ (Group II) and in 7 an historic T-cell IgG CM+ (Group III). Comparing groups I:II:III: early acute rejection affected 32%, 42%, 57% of grafts; mean serum creatinine at 3 months was 166, 150, 229 umol/l (p<0.05); 1 yr graft survival was 95 per cent, 96 per cent, 71 per cent (p=0.09). In group III both graft losses were in the setting of an additional current B-cell CM+. Conclusions: Transplantation performed in either the presence of an isolated B-cell CM+ or in the presence of an historic T-cell IgM CM+ was associated with acceptable outcomes at 1 yr. An historic T-cell IgG CM+ was confirmed as a contraindication to transplantation in most circumstances, especially when coupled with a current B-cell CM+. 相似文献
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Y. O’Meara A. Green M. Carmody G. Doyle J. Donohoe 《Irish journal of medical science》1989,158(12):300-303
Twenty five patients with renal vasculitis presenting over an eight year period were reviewed. Ten had microscopic polyarteritis,
6 classic polyarteritis, 5 overlap syndrome, 2 Churg-Strauss syndrome and 2 Wegener’s granulomatosis. Clinical features included
hypertension, pulmonary involvement, neurological involvement and arthralgia. Serum creatinine was over 500 umol/1 in 13 patients,
10 of whom required dialysis. Visceral angiography was positive in 80% of those studied, Focal and segmental necrotising glomerulonephritis
was the commonest renal lesion. Treatment consisted of corticosteroids and cytotoxic agents in most cases. Plasmapheresis
was used for rapidly progressive renal failure, severe pulmonary haemorrhage or cerebral vasculitis. Improvement or stabilisation
of renal function was seen in 68% of patients treated. There were 4 early deaths and one late death. The diagnosis, histology,
treatment and outcome of renal vasculitis is discussed. The importance of early diagnosis and treatment is emphasised in this
potentially reversible cause of acute renal failure. 相似文献
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