Predictive testing for BRCA1 and 2 mutations: a male contribution.

BACKGROUND: Management strategies for women carrying BRCA1 and 2 mutations are becoming clearer and predictive testing for a known family mutation is commonly undertaken. Implications for men are not as clear and they participate less frequently. PATIENTS AND METHODS: Twenty-six men from 10 extended families underwent predictive testing. Their motivation, reaction and outcome were studied. Subjects had appropriate pre- and post-test counselling. Informed consent was obtained before predictive testing for known deleterious mutations. DNA analysis followed standard procedures. RESULTS: Eighteen tested positive and eight negative. Four had adverse psychological reactions and three reneged on their commitments to impart results. The spouse of another man had an adverse psychological reaction to the disclosure of his positive result. Two, already suffering from prostate cancer, were phenocopies and paternal lineage transmission was unexpectedly determined in another. Risk was removed from 33 offspring and confirmed for 56. CONCLUSIONS: Complex themes associated with genetic testing are confirmed and the spectrum extended. Men appear to understand the importance of participating in this process. Methods of avoiding adverse reactions merit further study along with other aspects of the process.     

Knowledge and attitudes about otitis media risk: implications for prevention

OBJECTIVES: To investigate maternal knowledge and attitudes about otitis media (OM) risk, to estimate the prevalence of risk factors in the first year of life, and to identify barriers to the reduction of risk factors (eg, formula feeding, day care attendance, and exposure to passive smoke). METHODS: Questionnaires mailed to a systematic sample of 504 Minnesota women >/=18 years old identified through 1994 birth certificates. RESULTS: Eighty percent returned a completed survey. According to maternal report, 29% of infants (age 8 to 13 months) had recurrent OM (>/=3 episodes) and 2% had tympanostomy tubes. Forty-six percent attended day care, 29% had >/=1 smoking parent, and 49% breastfed for 相似文献   

The effect of regular antenatal perineal massage on postnatal pain and anal sphincter injury: a prospective observational study.

OBJECTIVE: Antenatal perineal massage has been shown to reduce the incidence of perineal tears in primiparous women. The aim of this study was to determine whether perineal massage impacts on primary prevention of symptomatic disruption of the fecal continence mechanism. METHODS: An observational study recruited two cohorts of women. The first, massage group (MG) chose to perform daily perineal massage from 34 weeks gestation, and the second, control group (CG) was asked to avoid massage. Perineal injury and postnatal pain were documented and all women were invited to attend at three months postpartum for continence assessment, anal manometry, and endoanal ultrasound. RESULTS: Of 179 women recruited, 100 were in the MG while 79 women were controls. Mode of delivery was not influenced by perineal massage. Although the impact did not reach statistical significance, women aged over 30 years in the MG were more likely to be delivered with an intact perineum than controls. Postnatal perineal pain was much reduced in the MG compared with the CG (p = 0.029). Of the women recruited, 136 (75.9%) returned for a postnatal continence assessment. Manometry pressures, continence scores, and endoanal ultrasound findings were similar in both groups. CONCLUSION: Antenatal perineal massage was found to significantly affect postnatal perineal pain scores although it did not impact on the incidence of intact perineum at delivery, postnatal continence scores, anal manometry pressures, or endoanal ultrasound findings.     

Alkylxanthines as research tools

(1) The methylxanthine caffeine has many pharmacological effects, most of which can be linked to blockade of adenosine receptors, inhibition of phosphodiesterases, and augmentation of calcium-dependent release of calcium from intracellular stores. (2) A variety of xanthines have been developed as potent and/or selective antagonists for adenosine receptors. (3) Several xanthines have been developed that are more potent and more selective inhibitors of cyclic nucleotide phosphodiesterase than caffeine or theophylline. (4) Caffeine remains the xanthine of choice for activation of intracellular calcium-sensitive calcium release channels although millimolar concentrations are required, which can have effects on other aspects of calcium regulation.     

Pre and postnatal diagnosis of fetus‐in‐fetu

Differentiation of abdominal masses detected on prenatal ultrasound is difficult and requires careful characterization of the mass and precise localization. Differentiation is required in order to distinguish benign from potentially malignant conditions. We describe a case of fetus‐in‐fetu with pre and postnatal imaging.     

En bloc transurethral resection of bladder tumors: A review of current techniques

IntroductionGrowing interest surrounds the concept of en bloc transurethral resection of bladder tumors (ERBT). Theoretical advantages include improved adherence to oncological principles and potential yield of superior pathological specimens. Multiple ERBT methods exist. This review summarizes the current evidence regarding application of differing techniques and technologies to ERBT.MethodsA systematic review of MEDLINE/EMBASE/Scopus databases was performed, using terms “en bloc,” “ERBT,” “bladder,” and “urinary bladder neoplasm.” Template-based data extraction included technique of ERBT, feasibility, tumor size, activation of obturator nerve reflex, operative complications, detrusor muscle sampling rate, and recurrence data.ResultsMultiple approaches to ERBT have evolved, using a variety of energy sources. The feasibility of electrocautery, laser, combined waterjet/electrocautery, and polypectomy snare techniques have been confirmed in achieving ERBT. ERBT appears safe, with a low complication rate. The use of laser energy sources reduces the risk of activating the obturator nerve reflex during lateral wall resections. Otherwise, no energy source is unequivocally superior in achieving ERBT. The rate of detrusor muscle sampling is high with use of ERBT and appears superior to that achieved with conventional TURBT (cTURBT) in multiple comparative studies. A limited number of largely non-randomized trials assess bladder tumor recurrence; current evidence suggests this is similar between ERBT and cTURBT groups.ConclusionsERBT using a variety of technologies is feasible and safe, with a high detrusor muscle sampling rate. Further research is required to determine whether rates of residual disease or recurrence can be reduced with ERBT vs. cTURBT.     

Flow cytometry in hairy cell leukemia before and during interferon alfa-2b therapy

Mononuclear cells from 15 patients with hairy cell leukemia were studied before and during therapy with interferon alfa-2b (IFN) by regular peripheral blood differential counts and flow cytometry, using a panel of monoclonal antibodies (Moab). Seven leukemic phase patients (Group 1) had a mean leukocyte count of 48,870/microliter at entry with a mean absolute hairy cell (HC) count of 40,100/microliter. After 3 months on IFN, both parameters decreased significantly (WBC 3,500/microliter; HC count 130/microliter). In eight patients with a cytopenic form of the disease (Group 2) the mean leukocyte count rose from 2950/microliter to 3890/microliter while the mean absolute HC count decreased from 300/microliter to 120/microliter. The morphologic shifts correlated well with changes in the Moab reaction pattern. In Group 1 the activity of all Moab decreased significantly. In Group 2, only cells expressing Leu 3a and Leu 11a (a marker of natural killer cells) showed a significant shift, the latter increasing from 170/microliter to 360/microliter. This increase in natural killer cell antigen expression was not obvious based on routine morphologic observations alone. We show that flow cytometry may be a useful adjunct in monitoring the response of HCL to therapy. Changes in populations of cells that may be difficult to discriminate on morphologic grounds alone may be observed.