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Biomedical subjects

J Livingstone

Publications and source records attributed to J Livingstone.

13 recordsLinked to original sources

Combined surgery and chemoradiation as a treatment for the Buschke-Löwenstein tumour.

BACKGROUND: The Buschke-Löwenstein tumour (BLT) or giant condyloma acuminata is a rare disease which affects the anogenital region. Although histologically benign, it behaves in a malignant fashion, infiltrating the surrounding tissues. The morbidity and mortality from this tumour is high, as is the risk of recurrence following treatment. It lies on the continuum between the benign condylomata acuminata and squamous cell carcinoma. The human papillomavirus is implicated in its aetiology. Treatment is controversial, with topical chemotherapy, radiotherapy, immunotherapy and radical surgery all having been employed. Chemoradiation remains the mainstay of treatment for anal cancers but has not been routinely employed in the management of the BLT without squamous cell carcinoma transformation. METHODS: Two cases of extensive perineal BLT treated with chemoradiation and subsequent surgical excision are presented. RESULTS: The first patient had a good symptomatic response to the chemoradiation but unfortunately died of recurrent disease following surgery. The second patient had a macroscopically complete response to chemoradiation and remains well following abdominoperineal excision. CONCLUSION: Pre-operative chemoradiation has proved to be useful in management for histologically proven benign BLT

Abdominal Neoplasms↗

Fractures of the tuberosity of the calcaneus.

We describe 24 fractures of the tuberosity of the calcaneus in 22 patients. Three were similar to the type of avulsion fracture which has been well-defined but the remainder represent a group which has been unrecognised previously. Using CT and operative findings we have defined the different patterns of fracture of the calcaneal tuberosity. Ten fractures extended into the subtalar joint, but did not fit the pattern of the common intra-articular fracture as described classically. We have defined a new pattern which consists of a fracture of the medial calcaneal process with a further fracture which separates the upper part of the tuberosity in the semicoronal plane. Non-operative treatment of displaced fractures resulted in a mis-shapen heel and a poor functional outcome. Open reduction and internal fixation with either a plate or compression screw did not give satisfactory fixation. We prefer to use an oblique lateral tension-band wire. This technique gave excellent fixation and we recommend it for the treatment of displaced fractures of the tuberosity of the calcaneus.

Adolescent↗

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, and abnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha=.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutières syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.

Abnormalities, Multiple↗

Eosinophilic cholecystitis as a possible late manifestation of the eosinophilia-myalgia syndrome.

We describe a case of acute acalculous cholecystitis occurring in a 43-year-old woman with a history of the eosinophilia-myalgia syndrome, associated with the ingestion of 1-tryptophan. The patient underwent a laparoscopic cholecystectomy and subsequent histological examination of the gallbladder revealed an infiltrate predominantly of eosinophils, suggesting a possible relationship to the underlying condition. This may represent a late complication of the eosinophilia-myalgia syndrome--such an association has not previously been reported in the literature. The gastrointestinal and hepatic complications of this syndrome are discussed.

Adult↗

Multiple cysteine proteinases of the pathogenic protozoon Tritrichomonas foetus: identification of seven diverse and differentially expressed genes.

The cattle protozoan parasite Tritrichomonas foetus has multiple forms of cysteine proteinases. To investigate their diversity, PCR and reverse transcriptase PCR were used to isolate genomic DNA and cDNA fragments, respectively, encoding different cysteine proteinases. Seven genes have been identified, TFCP3-6 from amplification of genomic DNA and TFCP7-9 from amplification of cDNA. Comparison of the predicted amino acid sequences indicates that the T. foetus enzymes are cathepsin-L-like rather than cathepsin-B-like in structure. However, there is considerable diversity among the proteinases. TFCP7 and TFCP8 are most similar to one another (78% identity), while TFCP3 and TFCP9 are the least closely related (30% identity). All but one of the genes are single-copy, the exception being TFCP3, which was present in multiple copies in one of the three isolates examined. Single transcripts were detected for each of the seven genes. TFCP8 was expressed at the highest levels, while transcripts for TFCP4 were only just detectable. In T. foetus F2, the strain from which the genomic DNA and mRNA were isolated, transcripts of the five other genes were present at intermediate levels. When two other isolates were compared with F2, differences in the expression of individual genes were apparent, with either one or two of them not expressed. In spite of these differences the major cysteine proteinases detected in the three isolates using substrate-SDS-PAGE appeared identical. The data show that the multiplicity of cysteine proteinases in T. foetus is due, in part at least, to the presence of multiple genes and that some of the genes encode cysteine proteinases which are not among the high-activity enzymes detected previously.

Amino Acid Sequence↗

Antenatal screening for cystic fibrosis: a trial of the couple model.

OBJECTIVE: To assess the delivery and acceptability of antenatal couple screening for cystic fibrosis. Carrier status was notified only when both members of a partnership had cystic fibrosis alleles and therefore a one in four risk of having an affected child. DESIGN: Mouthwash samples were tested when both partners participated. Results were returned only to positive couples. SETTING: Two large maternity hospitals in Edinburgh. SUBJECTS: Screening was offered to all couples who booked at one of the two hospitals. MAIN OUTCOME MEASURES: (a) The take up of screening, carriers and carrier couples identified, take up of prenatal diagnosis, and numbers of affected fetuses detected; (b) questionnaire measures of patient satisfaction and stress. RESULTS: Screening was offered to 8536 couples. 714 (8.4%) were regarded as ineligible, usually because of late booking or absence of a partner. 1900 (24.3%) of the remainder declined screening. Among the 5922 screened couples, four tested positive--that is, both partners were cystic fibrosis heterozygotes. All four elected to have prenatal diagnosis. There were three terminations of pregnancy because of an affected fetus, one couple having two successive pregnancies with affected fetuses. The participation rate was 76% for eligible couples (5922/7822) and 69% for all couples (5922/8536). Only 89 screened couples (1.5%) requested information on individual carrier status. No anxiety was detected among a cohort of the screened population, and 99% of questioned participants expressed satisfaction with the concept of couple screening. CONCLUSIONS: Antenatal couple screening is a satisfactory and acceptable way of screening for cystic fibrosis and has been adopted as routine in the two trial hospitals.

Anxiety↗

A preliminary trial of couple screening for cystic fibrosis: designing an appropriate information leaflet.

An information leaflet, inviting participation in an antenatal screening trial for cystic fibrosis, was sent to 388 couples together with the pregnant woman's first clinic appointment. The leaflet pointed out that couples would be treated as a unit and that further action would be taken only if both partners were found to carry mutant alleles. Participants and non-participants were also asked to fill in a questionnaire eliciting their views on the leaflet. Three hundred and twelve (80%) questionnaires were returned and 253 (65%) couples elected to be screened. More than 90% of respondents found the leaflet easy to understand, although about 10% wanted more information on cystic fibrosis. The main reason for entering the trial was to avoid the birth of an affected child, and the main reason for non-entry was opposition to termination of pregnancy. There was little anxiety about the prospect of being screened. However, more than a third of couples mis-identified their risk of both carrying a CF gene, despite the figure of 1 in 600 being explicitly stated in the leaflet.

Comprehension↗

An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.

Pre-eclampsia is a common complication of the second half of pregnancy that is associated with substantial fetal and maternal morbidity. Although the genetic basis of the disorder is unclear, epidemiological studies suggest that it occurs predominantly in the first pregnancies of women who are homozygous for a relatively common susceptibility gene. Using this epidemiological model, we have begun to construct an exclusion map by using both candidate genes and random DNA markers on a panel of two-generation families in which pre-eclampsia was rigorously defined. No evidence was found for linkage to the HLA region or to several genes implicated in the pathogenesis of hypertension.

Chromosomes, Human, Pair 1↗

Association between susceptibility to pre-eclampsia within families and HLA DR4.

56 women who had had proteinuric pre-eclampsia and who had parous sisters were studied. In first pregnancy, proteinuric pre-eclampsia was more common in the sisters than in the maternity hospital population (8/71 [11%] vs 41/1978 [2%]); the relative risk was 6.0. The frequency of HLA DR4 was higher in sisters with pregnancy-induced hypertension than in sisters with normotensive pregnancies (8/18 [44%] vs 10/54 [19%]) and more of them shared HLA DR4 with their spouses (4/14 [29%] vs 0/29). Genetic susceptibility to pre-eclampsia is associated with HLA DR4; it may be conferred by fetomaternal sharing of a single recessive HLA-linked gene.

Adult↗

New graft for low friction tunneling in vascular access surgery.

PURPOSE: Prosthetic accesses of the upper extremity have been in use for more than 25 years. Many different conduits have been employed; investigators have continually searched for a graft with superior properties. METHODS: We describe a prospective randomized study comparing the new Slider Graft (Atrium) with the Hybrid PTFE Graft (Atrium); the latter has been used for a number of years. The Slider Graft is also made of PTFE. For this study, both grafts were 6 mm in diameter and 40 cm in length. The Slider Graft has a low friction polyethylene sheath over its entire length. This sheath expedites the passage of the graft through the tunnel. At one end, the graft and the polyethylene sheath are attached to a metal tip. This tip has male threads, which may be inserted firmly into a Kelly Wyck, Atrium, or any standard non-sheath tunneling system. This alleviates graft separation, turning, and slipping during tunneling. The primary objective of this trial was to determine the safety and efficacy of the Slider Graft as compared to the Hybrid Graft in vascular access surgery. The secondary objective was to evaluate how tunneling effects graft performance. We randomized 60 subjects for this study with two equal arms. During surgery we measured various parameters including ease of tunneling, tunnel bleeding, anastomotic bleeding, graft sweating, and immediate patency. To assess arm edema we measured circumference 7.5 cm and 20 cm above the wrist, prior to surgery and in follow-up visits at 1 week, 1 month, and 3 months. Primary patency was also assessed at these visits and at 6, 9, and 12 months. RESULTS: Our results show tunneling with the Slider Graft is easier to accomplish (p = 0.0001) with reduced tunnel bleeding (p = 0.0047) and anastomotic bleeding (p = 0.042). Further, the Slider Graft virtually eliminated the complication of graft sweating and seroma development (p = 0.0005). This may be due to reduced stretching and graft wetting during insertion. At 180 days the Slider Graft demonstrated improved primary patency, which was statistically significant (p = 0.047). At 360 and 720 days the Slider Graft continued to demonstrate a trend toward improved primary patency (p = 0.160). CONCLUSIONS: This study suggests the Slider Graft has significant advantages when compared to the Hybrid Graft and highlights the importance of tunneling in creating prosthetic accesses.

Journal Article↗