ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00873.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00874.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00875.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00876.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00877.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00878.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

AbstractBackground: The clinical associations of anti‐lamin autoantibodies were first described in 1973. Since then a number of individual case reports and two small series have been published. These have suggested an association with connective tissue disorders and autoimmune liver disease.Aims: To identify the clinical and laboratory associations of anti‐lamin autoantibodies in an Australian population.Methods: Retrospective review of routine antinuclear antibody testing between 1990–1994 for characteristic linear staining of nuclear envelope on indirect immunofluorescence on HEp‐2 cells with clinical status defined by retrospective review of case records.Results: Twenty‐eight patients were identified and the clinical status of 27 patients defined. Eleven patients had associated IgG anti‐cardiolipin antibodies; anti‐phospholipid syndrome was present in nine. Seven further patients had liver disease; five had autoimmune liver disease, with associated autoantibodies. The remaining nine patients had a diverse group of diseases. There was no correlation between the titre of the autoantibody and clinical status. An association with anti‐cardiolipin antibodies was found although the cause remains obscure.Conclusion: Anti‐lamin autoantibodies, as identified by indirect immunofluorescence, are associated with a diverse group of diseases but particularly with anti‐phospholipid syndrome and liver disease. Testing for anti‐phospholipid antibodies and more specific markers of systemic lupus erythematosus and autoimmune disease, for example anti‐dsDNA antibodies, anti‐smooth muscle antibodies and anti‐mitochondrial antibodies should be pursued when anti‐lamin autoantibodies are detected. (Aus

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00879.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

AbstractBackground:Polymorphic ventricular tachycardia is an uncommon complication of sotalol use.Aims:The aims of this study were: (1) to report five cases of sotalol proarrhythmia and (2) to audit the use of sotalol in a teaching hospital population.Methods:Five patients with sotalol proarrhythmia (defined as new ventricular arrhythmias associated with sotalol administration) were identified over an 18 month period. Sotalol use for patients admitted to the John Hunter Hospital was audited over a six month period with 85 patients (55 males) identified from die pharmacy database. Medical records were reviewed and the details of treatment including sotalol dose and indication determined. Creatinine clearance was estimated by the Cockcroft and Gault regression equation.Results:The audit indicated that sotalol was prescribed predominantly for management of atrial arrhythmias (80%). Paroxysmal atrial fibrillation was the most common indication (71%). Although female patients were older (72±13vs62+15 years, p<0.001) and had a lower creatinine clearance (55±24vs82±32 mg/minute, p<0.001) than male patients, they were prescribed similar doses of sotalol (206±112vs193±93 mg/day). The ratio of sotalol dose to creatinine clearance was higher in female patients (4.0±2.6vs2.16±1.5, P<0.01). The five patients with proarrhythmia (torsades de pointes in four patients and polymorphic ventricular tachycardia in one patient) were all female. Daily sotalol dose (odds ratio for each 160 mg tablet 4.9 [95% confidence interval 1.5–16] and female gender (p<0.01) were significant risk factors for proarrhythmia'.Conclusion:Sotalol dose was not appropriately adjusted for creatinine clearance which is age and gender dependent. Female patients have an increased risk of proarrhydimia and should receive lower doses of

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00880.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

AbstractBackground:Living in small, isolated groups may promote health for Aborigines if traditional lifestyles are followed, but overall health risks in such communities are inadequately documented.Aim:To document health status of a remote Aboriginal community with reference to nutrition, cardiovascular risks, renal disease and infections and to identify areas where health might be improved.Methods:All residents of a small community in the Great Sandy Desert underwent medical examinations, anthropometry and measurement of blood pressure. Investigations included cholesterol, triglycerides, glucose, insulin, creatinine, lipoprotein (a), apolipoprotein E phenotype, angiotensin‐converting enzyme genotype, urinalysis, stool microscopy (children), liver function tests and full blood examination.Results:Children (n=26) were undernourished while 14% of adults (n=51) were underweight, 22% overweight and 40% of women and 13% of men were obese with central obesity in 90% of women and 48% of men. Fifteen per cent of the group were hypertensive. Insulin levels were increased in 55% of subjects, total cholesterol in 21% and triglycerides in 56%, while HDL was decreased in 78%. Angiotensin‐converting enzyme and apolipoprotein E typing and lipoprotein (a) did not suggest increased cardiovascular risk. Proteinuria was present in 39% of subjects, haematuria in 49% and definite or possible urinary tract infections in 30%. Faecal parasites were prevalent and a history of infections, including sexually transmitted diseases, was common.Conclusions:Increased cardiovascular risk, nutritional disorders, renal disease and infections are major problems in this community which had relocated several years previously from a mission environment closer to western influences, including alco

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00881.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

AbstractBackground:A deficiency of cystathionine β‐synthase (CBS) activity is the most frequent cause of homocystinuria, an autosomal recessive disease with multiple clinical manifestations. Mutations in the CBS gene have been reported in several patients with homocystinuria.Aims:To establish the molecular basis of CBS deficiency in a female patient with pyri‐doxine non‐responsive homocystinuria, and to apply the findings to genetic screening of her family members.Methods:The entire coding region of the CBS cDNA was amplified by PCR and used for direct sequence analysis. Mutant alleles were confirmed by direct sequence analysis of PCR‐amplified genomic DNA, and by a combination of single strand conformation polymorphism and temperature gradient gel electrophoresis analysis.Results:The proband was homozygous for a G919A base transition which predicts the substitution of serine for glycine at codon 307 in the CBS protein (G307S). The parents (both of Irish background) were heterozygotes for the G307S allele, while an asymptomatic sibling had normal CBS sequence. Plasma homocysteine, assessed after an oral methionine load, indicated the mother clearly had moderate hyperhomocysteinaemia, whereas the father had normal concentrations of homocysteine. This is the first report of a normal methionine load test in a proven heterozygote for a CBS mutation which causes severe homocystinuria in the homozygote. Other factor(s) may have contributed to hyperhomocysteinaemia in the mother. The G307S allele has been reported in other patients and appears to be a common allele among families of Celti

ISSN:0004-8291    

DOI:10.1111/j.1445-5994.1996.tb00882.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY