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Biomedical subjects

C Wise

Publications and source records attributed to C Wise.

At least 19 recordsLinked to original sources
PubMed2004

Penile and clitoral stimulation for faecal incontinence: external application of a bipolar electrode for patients with faecal incontinence.

OBJECTIVE: The aim of this study was to assess the effect of a novel pudendal nerve stimulator on clinical and anorectal manometric parameters in patients with faecal incontinence. METHOD: Retrospective cohort analysis of consecutive patients presenting with faecal incontinence who had failed initial conservative treatment and were not suitable for surgical intervention in a university hospital incontinence clinic. Biofeedback using a pudendal nerve stimulator comprising a bipolar electrode applied to the base of the clitoris or penis. Electrical pulse voltage was self-titrated and defined periods of treatment were prescribed. Anorectal manometry and Cleveland incontinence scores were assessed. RESULTS: There was a significant reduction in incontinence symptom score after pudendal nerve stimulator treatment in the 42 patients treated and who had a complete set of data (median age 57 years (range 37-81); 39 female, 3 male). This was accompanied by significant improvements (P < 0.05) in anal sphincter tone, maximal tolerated rectal volume and the sustained rectoanal inhibitory reflex. CONCLUSIONS: An externally applied pudendal nerve stimulator improves symptoms and physiological evidence of faecal incontinence but long-term follow up is not available for these patients.

Adult↗
PubMed2004

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region.

Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish.

Animals↗
PubMed2001

Origins and divergence of the Roma (gypsies).

The identification of a growing number of novel Mendelian disorders and private mutations in the Roma (Gypsies) points to their unique genetic heritage. Linguistic evidence suggests that they are of diverse Indian origins. Their social structure within Europe resembles that of the jatis of India, where the endogamous group, often defined by profession, is the primary unit. Genetic studies have reported dramatic differences in the frequencies of mutations and neutral polymorphisms in different Romani populations. However, these studies have not resolved ambiguities regarding the origins and relatedness of Romani populations. In this study, we examine the genetic structure of 14 well-defined Romani populations. Y-chromosome and mtDNA markers of different mutability were analyzed in a total of 275 individuals. Asian Y-chromosome haplogroup VI-68, defined by a mutation at the M82 locus, was present in all 14 populations and accounted for 44.8% of Romani Y chromosomes. Asian mtDNA-haplogroup M was also identified in all Romani populations and accounted for 26.5% of female lineages in the sample. Limited diversity within these two haplogroups, measured by the variation at eight short-tandem-repeat loci for the Y chromosome, and sequencing of the HVS1 for the mtDNA are consistent with a small group of founders splitting from a single ethnic population in the Indian subcontinent. Principal-components analysis and analysis of molecular variance indicate that genetic structure in extant endogamous Romani populations has been shaped by genetic drift and differential admixture and correlates with the migrational history of the Roma in Europe. By contrast, social organization and professional group divisions appear to be the product of a more recent restitution of the caste system of India.

DNA, Mitochondrial↗
PubMed2001

Ethical considerations in research with bereaved families.

This article describes a research project aimed at delivering an intervention to bereaved family members living in the community. The issues covered are access to subjects, recruitment and retention of subjects, and random assignment to control and experimental groups.

Bereavement↗
PubMed2000

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

EXT1 and EXT2 are two genes responsible for the majority of cases of hereditary multiple exostoses (HME), a dominantly inherited bone disorder. In order to develop an efficient screening strategy for mutations in these genes, we performed two independent blind screens of EXT1 and EXT2 in 34 unrelated patients with HME, using denaturing high-performance liquid chromatography (DHPLC) and fluorescent single-strand conformation polymorphism analysis (F-SSCP). The mutation likely to cause HME was found in 29 (85%) of the 34 probands: in 22 of these (76%), the mutation was in EXT1; seven patients (24%) had EXT2 mutations. Nineteen of these disease mutations have not been previously reported. Of the 42 different amplicon variants identified in total in the cohort, 40 were detected by DHPLC and 39 by F-SSCP. This corresponds to mutation detection efficiencies of 95% and 93% respectively. We have also found that we can confidently distinguish between different sequence variants in the same fragment using F-SSCP but not DHPLC. In light of this, and the similarly high sensitivities of the two techniques, we propose to continue screening with F-SSCP.

Chromatography, High Pressure Liquid↗
PubMed1999

Increased expression of hepatic DNA methyltransferase in smokers.

The DNA methyltransferase enzyme (DNA MTase) catalyzes DNA methylation at cytosines in CpG dinucleotides. 5-Methylcytosine modification of DNA is important in gene regulation, DNA replication, chromatin organization and disease. Increased levels of DNA MTase have been associated with the initiation and promotion of cancer. This study was conducted to assess whether cigarette smoking and other factors, such as age and gender, influence DNA MTase expression in nontumorous tissue. DNA MTase was significantly (p<0.05) higher in samples from cigarette smokers; the mean level of DNA MTase mRNA was almost 2-fold higher in these samples than in those from nonsmokers. Levels of DNA MTase mRNA were higher in samples from females than in those from males, but the difference was not statistically significant. Age was not associated with DNA MTase levels. Increased levels of DNA MTase in individuals who smoke may indicate a greater susceptibility to the risk of cancer since increased levels of this enzyme are found in cancer cell lines and human tumors. The results of this study suggest that further investigations of increased expression of this enzyme as a predisposing factor for cancer susceptibility are needed.

Adolescent↗
PubMed1998

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.

X-linked lymphoproliferative syndrome (XLP) is an inherited immunodeficiency characterized by increased susceptibility to Epstein-Barr virus (EBV). In affected males, primary EBV infection leads to the uncontrolled proliferation of virus-containing B cells and reactive cytotoxic T cells, often culminating in the development of high-grade lymphoma. The XLP gene has been mapped to chromosome band Xq25 through linkage analysis and the discovery of patients harboring large constitutional genomic deletions. We describe here the presence of small deletions and intragenic mutations that specifically disrupt a gene named DSHP in 6 of 10 unrelated patients with XLP. This gene encodes a predicted protein of 128 amino acids composing a single SH2 domain with extensive homology to the SH2 domain of SHIP, an inositol polyphosphate 5-phosphatase that functions as a negative regulator of lymphocyte activation. DSHP is expressed in transformed T cell lines and is induced following in vitro activation of peripheral blood T lymphocytes. Expression of DSHP is restricted in vivo to lymphoid tissues, and RNA in situ hybridization demonstrates DSHP expression in activated T and B cell regions of reactive lymph nodes and in both T and B cell neoplasms. These observations confirm the identity of DSHP as the gene responsible for XLP, and suggest a role in the regulation of lymphocyte activation and proliferation. Induction of DSHP may sustain the immune response by interfering with SHIP-mediated inhibition of lymphocyte activation, while its inactivation in XLP patients results in a selective immunodeficiency to EBV.

Amino Acid Sequence↗
PubMed1998

Communication of sexual risk behavior among late adolescents.

A grounded theory approach was used to describe how males and females in late adolescence communicate with their sexual partners about sexual risk behaviors. Interviews were audiotaped with 18 women and 15 men from a university in the southeastern United States. Verbatim transcripts were analyzed using constant comparative analysis. Building trust was identified as the core variable for both men and women. For women, prerequisites for building trust were being involved in caring relationships and indirectly gathering information about potential sexual partners. For men, prerequisites were being involved in caring relationships and using their instincts. Women usually initiated safe-sex talk, but men were willing to discuss it, once the conversation was initiated. Findings can serve as a guide for developing nursing strategies that promote more effective communication about sexual risk behavior in this age group.

Adolescent↗
PubMed1997

Splenic abscess caused by Clostridium difficile.

Splenic abscess is a previously unreported complication of Clostridium difficile colitis. A case of Clostridium difficile splenic abscess is reported that developed after the patient had been in intensive care for five weeks. A response was seen to radiologically guided drainage and antibiotic therapy with formal laparotomy, and surgical drainage not being required.

Abscess↗
PubMed1996

Initial experience with partial liquid ventilation in adult patients with the acute respiratory distress syndrome.

OBJECTIVE: To evaluate the safety and efficacy of partial liquid ventilation (PLV). DESIGN: Before-after trial. SETTING: The surgical intensive care unit at the University of Michigan, Ann Arbor, from April to December 1994. PATIENTS: A consecutive sample of 10 patients aged 19 to 55 years with the acute respiratory distress syndrome who were receiving extracorporeal life support. INTERVENTION: Perflubron was administered into the trachea until the dependent zone of the lung was filled. Gas ventilation of the perflubron-filled lung was then performed (PLV). Volatilized perflubron replacement was repeated daily for from 1 to 7 days with a median cumulative dose of 38 mL/kg (range, 15 to 62 mL/kg). MAIN OUTCOME MEASURES: Physiologic shunt and static pulmonary compliance. RESULTS: Physiologic shunt decreased from a median of 0.72 (range, 0.37 to 1.0) to 0.46 (range, 0.21 to 0.96) over the 72 hours following initiation of PLV (P = .01 by repeated measures analysis of variance). Static pulmonary compliance corrected for patient weight increased from a median of 0.16 mL/cm H2O per kilogram (range, 0.01 to 0.48 mL/cm H2O per kilogram) to 0.27 mL/cm H2O per kilogram (range, 0.05 to 1.11 mL/cm H2O per kilogram) over the same time period (P = .04 by repeated measures analysis of variance). Overall survival was five (50%) of 10 patients. Complications that were potentially associated with PLV included pneumothorax development in one patient and mucus plug formation in one patient. CONCLUSIONS: Perflubron may be safely administered into the lungs of patients with severe respiratory failure receiving extracorporeal life support and may be associated with improvement in gas exchange and pulmonary compliance.

Adult↗
PubMed1995

Successful transformation of yeast mitochondria with RPM1: an approach for in vivo studies of mitochondrial RNase P RNA structure, function and biosynthesis.

Mitochondrial RNase P RNA (Rpm1r) is coded by the RPM1 gene of mitochondrial DNA in many yeasts. As an initial step to developing a genetic approach to the structure and biogenesis of yeast mitochondrial RNase P, biolistic transformation has been used to introduce wild type and altered RPM1 genes into strains containing no mitochondrial DNA. The introduced wild type gene does support RNase P activity demonstrating that pre-existing RNase P activity is not necessary for the biosynthesis of the enzyme. Mutations introduced into RPM1 in vitro result in reduced accumulation of mature tRNA and in an alteration of the processing of Rpm1r in vivo.

Base Sequence↗
PubMed1994

Intravenous iloprost infusion in patients with Raynaud phenomenon secondary to systemic sclerosis. A multicenter, placebo-controlled, double-blind study.

OBJECTIVE: To evaluate the efficacy and safety of iloprost, a prostacyclin analog, administered intravenously in patients with Raynaud phenomenon secondary to systemic sclerosis. DESIGN: Multicenter, randomized, parallel placebo-controlled, double-blind study. SETTING: University medical centers. PATIENTS: 131 patients with systemic sclerosis (101 women, 30 men) ages 20 to 79 years. INTERVENTION: Patients were randomly assigned to receive one of two parallel treatments of five daily sequential, 6-hour intravenous infusions of iloprost (0.5 to 2.0 ng/kg per min) or to receive a similar volume of placebo. MEASUREMENTS: Frequency of Raynaud attacks, Raynaud severity score, physician's overall rating of treatment effect, and digital cutaneous lesion healing. RESULTS: Of the 131 patients enrolled, 126 completed the 5-day infusion and 114 (87%) completed at least 6 weeks of follow-up. Sixty-four patients were randomly assigned to receive iloprost and 67 patients, to receive placebo. The mean weekly number of Raynaud attacks decreased 39.1% with iloprost and 22.2% with placebo (P = 0.005). In addition, the mean percentage of improvement in a global Raynaud severity score during the entire 9-week follow-up was greater in patients given iloprost (34.8%) than in those receiving placebo (19.7%) (P = 0.011). The physician's overall rating of treatment effect showed greater improvement with iloprost than with placebo at week 6 (52.4% compared with 27.4%; P = 0.008) and week 9 (60.9% compared with 26.9%; P < 0.001). At week 3, 14.6% more patients receiving iloprost had 50% or more lesions heal compared with those given placebo (95% CI, 0.9% to 30%). During the infusion, 59 (92%) of the patients receiving iloprost had one or more side effects compared with 38 (57%) of the patients receiving placebo. CONCLUSION: Iloprost is effective for the short-term palliation of severe Raynaud phenomenon in patients with systemic sclerosis.

Adult↗
PubMed1994

Increased resistance of hygroscopic condenser humidifiers when using a closed circuit suction system.

OBJECTIVES: To examine a hygroscopic condenser after clinical use and to describe the interaction of a hygroscopic condenser and a closed circuit suction system used simultaneously. DESIGN: Prospective evaluation of hygroscopic condensers used clinically, and laboratory investigation of a hygroscopic condenser used with a closed circuit suction system. SETTING: Tertiary referral centers. MEASUREMENTS AND MAIN RESULTS: The hygroscopic condenser used during mechanical ventilation was removed and peak inflation pressure was measured by delivering a standard tidal volume and inspiratory flow across the isolated hygroscopic condenser while recording the peak inflation pressure. In the laboratory, four 10-mL aliquots of saline were instilled via closed circuit suction system into a test lung with fresh hygroscopic condensers (n = 15) inline. At baseline and after each instillation, the hygroscopic condenser was weighed and the peak inflation pressure was measured while in five condensers, peak expiratory flow rate was also measured. In these five devices, hygroscopic condenser resistance was measured with 100 L/min of constant gas flow while measuring the pressure drop across the hygroscopic condenser. In 11 hygroscopic condensers used for 27.5 +/- 11.9 hrs with no closed circuit suction system, the peak inflation pressure was 3.74 +/- 0.58 cm H2O. In the laboratory, instillation of saline via closed circuit suction system was associated with an increase in hygroscopic condenser weight. Peak inflation pressure increased in a quadratic fashion with the increase in hygroscopic condenser weight, while peak expiratory flow rate decreased in a linear fashion. After four saline instillations, hygroscopic condenser resistance increased from 5.66 +/- 0.31 to 13.9 +/- 2.42 cm H2O/L/sec. CONCLUSIONS: Clinical use of a hygroscopic condenser alone is not associated with a significant increase in peak inflation pressure. We caution the use of a hygroscopic condenser and a closed circuit suction system simultaneously, as an increase in hygroscopic condenser resistance may develop and may be poorly tolerated in patients with marginal ventilatory reserve.

Aged↗
PubMed1993

First trimester bleeding and pregnancy outcome in gravidas with normal and low folate levels.

The purpose of this study was to examine whether women with first trimester uterine bleeding and low serum folate have a higher incidence of spontaneous abortions and adverse perinatal outcome compared with women whose folate levels are normal. Serum folate and vitamin B12 levels were obtained on 225 women who presented with first trimester vaginal bleeding; pregnancy outcomes of those whose folate or vitamin B12 levels were low were compared with those with normal levels using the chi-square test. Of the 151 women included, 52 had low folate levels (less than 4.0 ng/ml). Their spontaneous abortion rate and perinatal outcomes were similar to those whose folate levels were normal. We concluded that in pregnancies complicated by first trimester vaginal bleeding, low folate levels do not appear to be associated with an increased risk of pregnancy loss and adverse outcome.

Abortion, Spontaneous↗