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At least 469 records · Page 26Linked to original sources
PubMed2003

Urodynamic testing predicts long-term urological complications following simultaneous pancreas-kidney transplantation.

INTRODUCTION: Combined pancreas-kidney transplantation is the treatment of choice for patients with type I diabetes mellitus associated with chronic renal failure. The introduction of the bladder drainage technique constituted a marked improvement of the surgical technique with a reduction of life-threatening complications. However, drainage of pancreatic secretions via the urinary bladder causes urological complications leading, in some cases, to cystoenteric conversion. We retrospectively analysed whether pre-operative urodynamic findings may predict the subsequent development of urological complications and influence the choice of exocrine secretion drainage. PATIENTS AND METHODS: From 1987 to 1997, 39 bladder-drained simultaneous pancreas-kidney transplantations were performed in 16 men and 23 women with a mean age of 38.5 yr. All patients underwent a complete urological assessment prior to surgery, including medical history, physical examination, urethrocystography and urodynamic assessment. RESULTS: Twenty-eight patients are alive with a mean follow-up of 62 +/- 8 months. In 60% of cases, both kidney and pancreas remain functional. Seven patients experienced recurrent lower urinary tract infections. Six patients suffered from chemical urethritis (four men and two women) and six suffered from recurrent haematuria (blood transfusions were required in two patients). One patient had incrusted stones at the site of duodenal staples. Urological complications were mostly observed in the 22 patients (79%) with abnormal urodynamic characteristics (Relative risk: 5.1). Intravenous Somatostatin failed to definitively cure these complications in most cases. Seven patients (17%) (five with urethritis, two with haematuria) required cystoenteric conversion. Two patients developed post-operative ileal fistula, one cutaneous and one into the bladder. All urinary symptoms resolved in these seven patients. CONCLUSION: The frequency of specific urinary complications is high (28%) in bladder-drained simultaneous pancreas-kidney transplantation patients. These complications are statistically more frequent in the case of an abnormal pre-transplant urodynamic assessment.

Adult↗
PubMed2004

BRCA1/2 predictive testing: a study of uptake in two centres.

Differences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband had been informed of the availability of testing, only 45 and 34% of eligible individuals from Manchester and London, respectively, had come forward for counselling. Final uptake rates using a non-proactive approach were 53 and 29% for women and 11-12% for men, but the figure among those attending clinic was 73 and 62%, respectively. Unlike previous studies, we did not find that uptake had stabilised after a year with 25% of those being tested more than 2 years after the family was informed, and several delaying a considerable time between genetics appointments. We believe that the particularly low uptake even of counselling in men may need to be addressed by improving family communication or providing information sheets for family members to disseminate.

Female↗
PubMed1997

Modified Method for the Detection of the CAG Repeat Expansion in Huntington's Disease and Application to a Predictive Testing Protocol.

Background: The identification of the CAG trinucleotide repeat expansion as the cause of Huntington's disease (HD) has dramatically altered the ease and uptake of testing. The direct test for the mutation allows testing of many more consultands, particularly those individuals whose family structure is not suitable for linkage analysis. Therefore, protocols that can rapidly handle a number of samples and give accurate reliable results are essential. Methods and Results: The HD1/HD2 set of primers, which amplify the variable CAG and polymorphic CCG repeats, and the HD1/HD3 set of primers, which amplify only the variable CAG repeat, were used. Comparison of internally labeled with end-labeled polymerase chain reaction product was made. "Lysates" made from blood were investigated as suitable material for the HD polymerase chain reaction. Conclusions: The conditions used for detection of the CAG repeat in the huntingtin gene by end labeling of one of the primers that amplifies only the CAG repeat were improved, and an efficient protocol that reduces sample preparation and storage by using lysates from blood rather than extracted purified genomic DNA was developed.

Journal Article↗
PubMed1988

Predictive testing for Huntington's disease with use of a linked DNA marker.

The probability of carrying the gene for Huntington's disease can in many cases be estimated in the children of affected persons by identifying a specific DNA marker that is genetically linked to the gene. We studied 47 persons at 50 percent risk of inheriting Huntington's disease who requested a presymptomatic or prenatal genetic-linkage test between September 1986 and January 1988. The participants were given pre-test counseling and psychological and neurologic evaluations. Nineteen persons later voluntarily withdrew from the protocol, including one who would have been excluded anyway, and one person was from a family that was too small to allow testing. Three D4S10 restriction-fragment-length polymorphisms produced by the HindIII, EcoRI, and Bg/I enzymes were used for all tests, and the probability that a subject was a Huntington's disease carrier was calculated. The accuracy of the test was compromised by a 4 percent recombination frequency between D4S10 and the Huntington's disease gene. Fifteen presymptomatic tests and one prenatal test were completed. Four yielded positive results, seven yielded negative results, and five were uninformative; seven persons are awaiting test results. All participants with positive tests experienced intermittent depression, but none required hospitalization, and no suicide threats were reported. Five participants received a diagnosis of Huntington's disease on the basis of the neurologic assessment. We conclude that some persons in the early stages of Huntington's disease may seek presymptomatic testing rather than neurologic evaluations.

Adult↗
PubMed1975

Predictive tests for malignant hyperpyrexia.

Four carriers of the abnormal trait for malignant hyperpyrexia have been studied to determine the value of the various methods of carrier detection. Tests included enzyme estimations, histochemistry, electronmicroscopy, biochemistry and in vitro exposure of muscle strips to halothane. By combining these procedures it is possible to detect all the asymptomatic carriers of this disease.

Adenosine Triphosphatases↗
PubMed1994

A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.

The polymorphic CAG repeat that is expanded on Huntington disease (HD) chromosomes is flanked by a CCG repeat. Here we show that this CCG tract, previously assumed to be invariant at seven CCG repeats, is also polymorphic. We have identified five CCG alleles from 205 normal chromosomes, with 137 (67%) having alleles of seven repeats, five (2%) with nine repeats, 61 (30%) with 10 repeats, one (0.5%) with 11 repeats and one (0.5%) with 12 repeats. In contrast, analysis of 113 HD chromosomes revealed that the majority (105 chromosomes, 93%) contained seven CCG repeats, while the remaining eight chromosomes (7%) had allele sizes of 10 CCG repeats. Despite evidence that both CAG and CCG are polymorphic on normal chromosomes, we have found that it is only the CAG length that has a significant impact on age of onset. The discovery of larger sized CCG alleles, however, has significant implications for the assessment of CAG repeat length, particularly for persons with estimated CAG size of 36-42 repeats, since an overestimation of CAG length in this range could result in erroneous information being imparted to patients.

Adult↗