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Biomedical subjects

D Perry

Publications and source records attributed to D Perry.

At least 19 recordsLinked to original sources

Eosinophilic cystitis: successful long-term treatment with montelukast sodium.

We report a rare case of eosinophilic cystitis in a 6-year-old boy who presented with irritative voiding symptoms, peripheral eosinophilia, and a bladder mass initially visualized on ultrasonography. Cystoscopy and transurethral biopsy confirmed the diagnosis. Complete resolution of his symptoms occurred within 1 week of corticosteroid use and the x-ray findings improved within 6 weeks. At 6 months of follow-up, the patient continued to require a leukotriene receptor antagonist (montelukast sodium) despite several attempts to discontinue its use. We propose that eosinophilic cystitis in children who present with peripheral eosinophilia will often require long-term treatment.

Acetates↗

Detection of known haemophilia B mutations and carrier testing by microarray.

The molecular basis of haemophilia B is heterogeneous and many mutations of the Factor IX (FIX) gene have been characterised. Using the allele-specific arrayed primer extension (AS-APEX) technology, we have designed a FIX array to simultaneously analyse 69 mutations found in British, Thai and Chinese patients. This technology overcomes the problem of multiple reverse dot-blot analysis and has a 100% accuracy in the detection of both affected subjects and carriers in families with known mutations. In seven unknown mutations from Thailand, the array could detect the specific mutation in five and in the remainders the normal primer at specific spots failed to extend due to a mutation a few nucleotides upstream, thus allowing their identification. Hence this FIX array can detect 53% of the 2891 mutation entries in the FIX database. Each of the microarray slide can be used for three different test samples and would be useful for carrier testing for common mutations and prenatal diagnosis. It is simpler and more cost effective than genome sequencing and would be particularly useful in laboratories with limited technical capabilities.

Base Sequence↗

Effect of sodium valproate on esophageal motility in healthy subjects and patients with gastroesophageal reflux.

BACKGROUND: There is experimental evidence to show that upper gastrointestinal tract motility is influenced by a GABAergic mechanism. Sodium valproate acts as a GABA agonist, and has been proven to affect the human internal anal sphincter. The aim of this study was to evaluate any possible effect of sodium valproate on esophageal motility in healthy subjects and patients with gastroesophageal reflux disease (GERD). METHODS: Ten healthy volunteers (4 M, 6 F; age range: 20-61 years) and 12 patients (4 M, 8 F; age range: 25-70 years) with GERD were included in the study. Standard esophageal manometry and ambulatory 24-h esophageal pH monitoring were performed before and 5 days after oral administration of sodium valproate (400 mg four times per day). Main measurements included a) lower esophageal sphincter (LES) resting pressure and amplitude and duration of peristalsis at 5, 10 and 15 cm proximal to LES, and b) percentage of time with esophageal pH <4 and number of reflux episodes. RESULTS: Sodium valproate (i) significantly increased LES resting pressure in both groups (P<0.05), without affecting either the LES postdeglutition relaxation or any of the parameters of the esophageal peristaltic activity, (ii) significantly reduced the number of reflux episodes at the postprandial period in both healthy subjects (P=0.02) and reflux patients without hiatal hernia (P=0.04) and (iii) the time percentage with esophageal pH <4 at the postprandial period in reflux patients (P=0.01). CONCLUSIONS: Sodium valproate increases normal and reduced tonic activity of the human LES and reduces the number of reflux episodes in health and GERD. This action could be attributed to a central GABAergic mechanism.

Adult↗

Use of bioinformatics and PCR in the search for ABC transporter homology among various bacteria.

Bioinformatics databases and search tools are utilised to produce polymerase chain reaction (PCR) primers for the amplification of an ABC transporter gene from the clinically important anaerobe Finegoldia magna. On sequencing, a 450 base pair amplicon showed homology with the amino acid transporter of Enterococcus faecalis. Little sequence data is available for F. magna and the newly isolated DNA could be a useful tool in the identification of this organism in clinical specimens.

ATP-Binding Cassette Transporters↗

High rate of complications associated with peripherally inserted central venous catheters in patients with solid tumours.

BACKGROUND: Peripherally inserted central catheters (PICC) have been used extensively as a cost-effective and safe form of medium-term intravascular access. There are only limited data about complications of PICC lines in oncology patients despite theoretical concerns about the higher risks of complications in these patients as a result of cancer itself and cancer therapy. AIMS: To document the frequency and type of PICC complications in patients with solid tumours. METHODS: All patients with solid tumours who were treated at Flinders Medical Centre, Adelaide, South Australia, Australia between January 2000 and March 2001 were included in a retrospective review of PICC complications. RESULTS: Twenty-seven PICC lines were inserted in 17 patients; 40.7% (11/27) of PICC lines developed complications requiring early removal of the PICC. Complications encountered were sepsis (systemic and cellulitis), thrombosis, blockage and leakage. Septic complications were found at a rate of 8/1000 PICC days or 25.7% (7/27) of PICC inserted. The median dwell time was 20 days. The mean time for a complication to occur was 27.5 days. CONCLUSIONS: The present study demonstrates a high rate of complications, which is higher than the complication rates reported in studies of non-oncology patients. PICC lines should be used with caution in patients with solid tumours. Prospective studies of the factors influencing the incidence of complications might be warranted.

Antineoplastic Agents↗

HIV infection seroprevalence and risk factor study among pregnant women attending the Antenatal Clinic at the University Hospital of the West Indies, Kingston, Jamaica.

The objectives of this study were to determine the seroprevalence and risk factors for Human Immunodeficiency Virus (HIV) infection among the antenatal clinic population at the University Hospital of the West Indies (UHWI). Pregnant mothers (4186) attending antenatal clinic at the UHWI were screened for HIV infection between September, 1998, and October, 2000. Tests were performed with the use of Abbott enzyme immunoassay (EIA) kits for the detection of antibodies to HIV 1 and 2. Demographic characteristics and risk factor assessments were performed using a questionnaire for all positive cases and four randomly selected negative controls matched by age to each positive case. Twenty-one women were found to be HIV positive. Nineteen of these women were not previously aware that they were HIV-positive. The seroprevalence of HIV infection among antenatal mothers was 0.5%. The mean age of cases was 29.3 +/- 4.6 years. There was no significant difference between cases and controls with regards to parity, socio-economic status and educational achievement. Women residing in urban Kingston and St Andrew (Odds ratio (OR) 5, 95% confidence interval (CI) 1.4, 18), as well as those with a higher number of lifetime sexual partners (OR 1.42, 95% CI 1.13, 1.79) and those with previous sexually transmitted diseases (OR 3.4, 95% CI 1.1, 10.6) were at greater risk for HIV infection. In contrast, women who commenced coitus at a later age were at less risk of becoming infected (OR 0.79, 95% CI 0.6, 0.97). This study demonstrates a low seroprevalence of HIV in the UHWI antenatal population compared to the reported seroprevalence of 2%-8% in pregnant women in Latin America and the Caribbean. The results from this study emphasize the continuing need for voluntary HIV testing and HIV/AIDS educational campaign for this vulnerable group.

Adult↗

Plasma homocysteine, methylene tetrahydrofolate reductase C677T and factor II G20210A polymorphisms, factor VIII, and VWF in central retinal vein occlusion.

AIMS: To determine whether plasma homocysteine, methylene tetrahydrofolate reductase (MTHFR) C677T and factor II G20210A polymorphisms, factor VIII, and vWF are risk factors for central retinal vein occlusion (CRVO). METHOD: Prospective comparison of 63 consecutive patients with central retinal vein occlusion and 63 age matched controls. Plasma homocysteine and vWF were estimated by ELISA, the MTFHR and factor II G20210A polymorphisms determined by polymerase chain reaction with restriction enzyme product digestion and factor VIII by one stage automated clotting assay. RESULTS: Plasma homocysteine (patients: median 12.4 micromol/l, controls: median 11.6 micromol OR = 1.05, p=0.20), factor VIII (patients: median = 115 U/dl, controls: median = 113 U/dl), and vWF (patients: median = 115 U/dl, controls: median = 108 U/dl) were not statistically higher in patients than in controls. Five CRVO patients and seven controls were homozygous for the MTHFR C677T mutation. One control was heterozygous for the factor II G20210A mutation. CONCLUSION: This study has not identified new risk factors for CRVO.

Blood Coagulation↗

Dentists' attitudes and behaviors regarding domestic violence. The need for an effective response.

BACKGROUND: The authors examined the attitudes and behaviors of a national sample of dentists regarding domestic violence and the barriers dentists face in intervening to help victims. METHODS: The authors surveyed a national random sample of 321 dentists by mail from November 1997 to March 1998 about their attitudes and clinical practice behaviors related to domestic violence. Survey items were developed based on the domestic violence and health care literature. The authors used the Total Design Method to maximize the response rate and analyzed data to determine differences between dentists who had received domestic violence education and those who had not. RESULTS: Eighty-seven percent of responding dentists never screened for domestic violence; 18 percent never screened even when patients had visible signs of trauma on their heads or necks. Overall, respondents intervened only minimally to help patients whom they had identified as victims. Respondents reported that the major barriers to screening were the presence of a partner or children (77 percent), lack of training (68 percent), concern about offending patients (66 percent) and their own embarrassment about bringing up the topic of abuse (51 percent). Respondents who had received domestic violence education were significantly more likely to screen for domestic violence and to intervene. CONCLUSIONS: Dentists face many barriers to identifying and helping patients who are abuse victims, yet these data suggest that education about domestic violence could help them overcome some of these barriers. CLINICAL IMPLICATIONS: We suggest that dentists follow the AVDR model when approaching abused patients in their practice: Ask about abuse, provide Validating messages, Document presenting signs and Refer victims to domestic violence specialists.

Adult↗

Progressive arterial thrombosis in a patient with non-Hodgkin's lymphoma, a lupus anticoagulant, factor V Leiden mutation and paraprotein, following chemotherapy.

We report a case of non-Hodgkin's lymphoma (NHL), with a preceding history of sarcoidosis, in a patient with a lupus anticoagulant (LA), a low-level paraprotein and heterozygosity for the factor V Leiden mutation. Following cytotoxic chemotherapy the patient developed a progressive arterial thrombosis necessitating a left below-knee amputation.

Antineoplastic Combined Chemotherapy Protocols↗

Noonan's syndrome and seminoma of undescended testicle.

A 26-year-old white man with Noonan's syndrome and a history of lifetime lymphedema had had bilateral orchiopexy for undescended testicles at the age of 12. He noticed increased swelling of the right testicle confirmed by ultrasonography as a solid mass. Computed tomography of the abdomen and pelvis showed multiple enlarged mesenteric and retroperitoneal lymph nodes. At right inguinal orchiectomy, pathologic findings were consistent with seminoma of the right testicle. Postoperatively, he was treated with four cycles of cisplatin and etoposide. A case of nonseminoma in Noonan's syndrome has been reported previously, but this is first case report of seminoma in a patient with Noonan's syndrome.

Adult↗

Patients' voices: the powerful sound in the stem cell debate.

Millions of patients may benefit from the applications of stem cell research, although there is disagreement about whether public funds should be used to develop the science. Patients have been key to winning political support. Acting as advocates, they have contended that public investment will speed the research and bring accountability to biomedical technology. A political dispute about the new research, which holds the potential for cures to devastating diseases and to foster healthy aging, shows the need to respect public sensibilities and to court public approval, as well as the importance of involving patients in debates where the methods of biomedical discoveries and ethical beliefs collide.

Bioethics↗

Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: an intergroup rhabdomyosarcoma study.

A comparative genomic hybridization (CGH) approach provides identification of genomic gains and losses in a tumor specimen in a single experiment. Only 11 embryonal rhabdomyosarcomas (E-RMS) have previously been subjected to CGH. The underlying genetic events in this histologic subtype are not well defined. In this investigation, 12 E-RMS specimens from 10 patients entered into Intergroup Rhabdomyosarcoma Study (IRS) I-IV and two local patients were analyzed by CGH and fluorescence in situ hybridization (FISH). Gains of chromosomes or chromosomal regions 2 (50%), 7 (42%), 8 (67%), 11 (42%), 12 (58%), 13q21 (33%), and 20 (33%) and losses of 1p35-36.3 (42%), 6 (33%), 9q22 (33%), 14q21-32 (25%), and 17 (25%) were most prominent. Chromosomal regions 1p35-36.3 and 9q22 represent novel regions of loss. Importantly, loss of 9q22 corresponds to the locus of a putative tumor suppressor gene (PTCH), which has been shown to play a role in rhabdomyosarcoma in a mouse model of Gorlin syndrome. Loss of 1p36 corresponds to the locus for PAX7, a paired box containing gene characteristically altered in alveolar rhabdomyosarcoma. Moreover, loss of 1p36 is prominent in another common pediatric soft tissue tumor, neuroblastoma. Gains of 2, 7, 8, 12, and 13 and loss of 14 were seen in the sole prior E-RMS CGH series; thus, these data provide important confirmatory results. In contrast to this previous study, however loss, not gain, of chromosome 17 was observed in the current study. Chromosome 17 loss correlates well with previous descriptions of frequent allelic loss of 17p (TP53) in E-RMS. In summary, CGH and FISH analyses of 12 E-RMS specimens revealed novel genomic imbalances that may be useful in directing further molecular studies for the determination of E-RMS critically involved genes.

Adolescent↗

Presurgical mapping with magnetic source imaging: comparisons with intraoperative findings.

We compare noninvasive preoperative mapping with magnetic source imaging to intraoperative cortical stimulation mapping. These techniques were directly compared in 17 patients who underwent preoperative and postoperative somatosensory mapping of a total of 22 comparable anatomic sites (digits, face). Our findings are presented in the context of previous studies that used magnetic source imaging and functional magnetic resonance imaging as noninvasive surrogates of intraoperative mapping for the identification of sensorimotor and language-specific brain functional centers in patients with brain tumors. We found that magnetic source imaging results were reasonably concordant with intraoperative mapping findings in over 90% of cases, and that concordance could be defined as "good" in 77% of cases. Magnetic source imaging therefore provides a viable, if coarse, identification of somatosensory areas and, consequently, can guide and reduce the time taken for intraoperative mapping procedures.

Brain Mapping↗

The role of outbreaks in developing food safety policy: population based surveillance of salmonella outbreaks in Wales 1986-98.

In developing public policy on food safety, systematic identification and thorough investigation of all general outbreaks is necessary in order to avoid bias towards highly publicised outbreaks. In Wales, from 1986 to 1998, 87 general foodborne outbreaks of salmonellosis were identified. Most outbreaks occurred at functions or were associated with small catering outlets such as bakeries and sandwich bars. In 50 outbreaks, a vehicle of infection was confirmed microbiologically and/or epidemiologically. The most common food vehicles were those containing shell eggs. Salmonella enteritidis outbreaks were significantly more likely than outbreaks of other serotypes to be associated with vehicles containing shell eggs, suggesting that eggs were also the source of infection in many outbreaks. The routine use of analytical epidemiological studies to identify vehicles in outbreaks is recommended.

Disease Outbreaks↗