E-cadherin mutation-based genetic counseling and hereditary diffuse gastric carcinoma

The E-cadherin mutation has been identified in a subset of families with multiple cases of diffuse gastric carcinoma. However, the true penetrance of this mutation and its association with other carcinomas in such families remains elusive. We aim to show the importance of DNA-based genetic counseling in hereditary diffuse gastric carcinoma. The proband was self-referred after three of his siblings died of diffuse gastric carcinoma. Medical and pathology records confirmed diagnoses. The family was educated about diffuse gastric carcinoma. Analysis for the 70G-->T mutation was performed by sequencing genomic DNA from lymphocyte pellets. DNA results and genetic counseling were provided individually to those tested. Twenty-four family members were tested for the E-cadherin mutation. Nine were found to be positive and 15 were negative. Three who tested positive and were affected are now deceased. None of the 19 patients counseled wanted results sent to their physicians once they recognized the potential for insurance discrimination. None had undergone endoscopic ultrasound. Three who were positive for the E-cadherin mutation expressed strong interest in prophylactic gastrectomy. The E-cadherin mutation strongly predicts susceptibility to diffuse gastric carcinoma. Emotional stress in at-risk patients, the limited knowledge of the mutation's penetrance, and limitations of available screening mandate patient-centered genetic counseling.     

Chorionic villus sampling before multifetal pregnancy reduction

OBJECTIVE: This study was undertaken to determine the technical feasibility and accuracy of chorionic villus sampling before multifetal pregnancy reduction and to determine whether sampling increases the pregnancy loss rate after the reduction procedure. STUDY DESIGN: Between January 22, 1986, and January 20, 2000, a total of 1183 patients underwent first-trimester multifetal pregnancy reduction at Mount Sinai Medical Center. Chorionic villus sampling was attempted in 86 patients before the reduction procedure. Information on the technical success and accuracy of chorionic villus sampling, as well as pregnancy outcome, was collected on all patients. Pregnancy loss rates before 24 weeks' gestation in patients undergoing chorionic villus sampling before multifetal pregnancy reduction were compared with rates in patients not undergoing sampling. RESULTS: Chorionic villus sampling was successfully completed in 85 (98.8%) of 86 patients in whom sampling was attempted. Of 166 fetuses, 165 (99.4%) were successfully sampled. Of 165 fetuses, 3 (1.8%) had karyotypic abnormalities. Sampling errors were probably made in 2 (1.2%) of 165 fetuses. Of the 73 patients who have been delivered or are beyond 24 weeks' gestation, only 1 patient (1.4%) had a pregnancy loss after the multifetal pregnancy reduction. CONCLUSIONS: Chorionic villus sampling before multifetal pregnancy reduction is technically feasible and accurate, with an acceptably low sampling error rate. Chorionic villus sampling before multifetal pregnancy reduction appears to be safe and does not increase the risk of loss after the reduction procedure.     

Corticosteroids in idiopathic pulmonary fibrosis

Corticosteroids were the mainstay of therapy for idiopathic pulmonary fibrosis (IPF) for more than four decades, but their efficacy is unproven and toxicities are substantial. The course of IPF is characterized by progressive respiratory insufficiency, leading to death within 3 to 8 years from the onset of symptoms. Although a subset (10-20%) of patients survives more than 10 years, there is no evidence that any form of therapy alters the natural history of the disease. Nonetheless, given the poor prognosis, a trial of corticosteroids is often given. Because of the rarity of IPF, randomized, placebo-controlled therapeutic trials have not been done. Further, no studies have compared differing dosages or duration of corticosteroid in matched patients. Interpretation of therapy efficacy is obscured by several factors including heterogeneous patient populations, inclusion of patients with histologic entities other than usual interstitial pneumonia, lack of objective, validated endpoints, different criteria for "response." We review published data regarding corticosteroid therapy for IPF and present a rationale for stratifying therapy based on host, demographic, and clinical factors that influence prognosis as well as risk for corticosteroid complications.     

Antimicrobial effect of a novel ozone- generating device on micro-organisms associated with primary root carious lesions in vitro

The aims of this present study were (1) to assess the antimicrobial effect of ozone from a novel ozone-generating device (Heolozone, USA) [0.052% (v/v) in air delivered at a rate of 13.33 ml.s(-1)] on primary root carious lesions (PRCLs) and (2) to evaluate the efficacy of ozone specifically on Streptococcus mutans and Streptococcus sobrinus. In study 1, 40 soft PRCLs from freshly extracted teeth were randomly divided into two groups to test the antimicrobial effect on PRCLs from exposure to ozonated water for either 10 or 20 s. Half of a lesion was removed using a sterile excavator. Subsequently, the remaining lesion was exposed to the ozonised water for a period of either 10 or 20 s (corresponding to 0. 069 or 0.138 ml of ozone, respectively). Using paired Student t tests, a significant (p<0.001) reduction (mean +/- SE) was observed in the ozone-treated groups with either a 10-second (log(10) 3.57+/-0.37) or 20-second (log(10) 3.77+/-0.42) ozone application compared with the control groups (log(10) 5.91+/-0.15 and log(10) 6.18+/-0.21, respectively). In study 2, 40 sterile saliva-coated glass beads were randomly divided into two groups for each micro-organism. One glass bead was put into each bijou bottle with 3 ml of Todd-Hewitt broth. S. mutans and S. sobrinus were inoculated anaerobically overnight. Each glass bead was then washed with 2 ml of phosphate-buffered saline. Immediately, 10 s of ozone gas was applied to each glass bead in the test groups. There was a significant (p<0.0001) reduction (mean +/- SE) in ozone-treated samples for S. mutans (log(10) 1.01+/-0.27) and S. sobrinus (log(10) 1.09+/-0.36) compared with the control samples (log(10) 3.93+/-0.07 and log(10) 4.61+/-0.13, respectively). This treatment regime is an effective, quick, conservative and simple method to kill micro-organisms in PRCLs. Ozone gas application for a period of 10 s was also capable of reducing the numbers of S. mutans and S. sobrinus on saliva-coated glass beads in vitro.     

Perceived treatment helpfulness and cost in chronic pain rehabilitation

OBJECTIVE: This article examines the perceived helpfulness of treatment components in comprehensive interdisciplinary pain management programs as they relate to cost. DESIGN: Patient satisfaction results assessed by the Treatment Helpfulness Questionnaire (THQ) and treatment costs were compared for 309 subjects at three comprehensive interdisciplinary chronic pain management centers. All subjects completed the THQ immediately after treatment, and follow-up data were gathered 3 to 6 months after the end of treatment at two of the three centers. RESULTS: Ratings of treatment helpfulness were not found to be related to either demographic or medical variables. Mean THQ ratings for many treatment modalities did differ significantly between centers, but subjects at all centers generally gave higher THQ ratings to psychological and educational therapies than to physical therapy and medical modalities both at posttreatment and at follow-up evaluations. More costly treatments generally did not receive higher ratings than less costly ones. THQ ratings tended to decline modestly from posttreatment to follow-up evaluations. CONCLUSIONS: For the selected population of patients undergoing comprehensive interdisciplinary pain management, educational and psychological approaches received high ratings of helpfulness at a relatively low cost. Further research is needed to address whether comparative patient satisfaction data can be used at pain centers to produce improved outcomes at reduced costs.     

Regular attenders to the accident and emergency department

OBJECTIVES: To examine the profile of regular attenders to an accident and emergency (A&E) department, and to estimate the percentage of the overall departmental workload attributed to this group of patients, together with the resultant cost to the department of these attendances. METHODS: A retrospective study of regular attenders to the A&E department at Hull Royal Infirmary was conducted between 1 January 1998 and 30 June 1998. The information gathered included age, sex, marital status, accommodation, investigations performed, concurrent alcohol use, presenting complaints and disposal. RESULTS: The A&E department at Hull Royal Infirmary sees approximately 87 000 new patients per year. Forty regular attenders presented 475 times in six months accounting for 1.1% of the departmental workload. The most common presenting complaints were overdose (27.4%), minor injuries (19%), alcohol intoxication (14%) and seizures (10.5%). Eighty per cent of patients were single and 7.5% were of no fixed abode. A total of 191 admissions resulted and the cost to the department for investigations performed was between ?2709.59 and ?3739.85. The cost of inhospital admissions was in excess of ?34000. CONCLUSION: Improved management of these patients together with a reduction in their alcohol intake may lead to a significant reduction in both workload for accident departments and hospitals and in the number of regular attenders.     

Caring for colleagues

Shortly before his death in 1995, Kenneth B. Schwartz, a cancer patient at Massachusetts General Hospital (MGH), founded the Kenneth B. Schwartz Center. The Schwartz Center is a non-profit organization dedicated to supporting and advancing compassionate health care delivery, which provides hope to the patient, support to caregivers, and sustenance to the healing process. The center sponsors the Schwartz Center Rounds, a monthly multidisciplinary forum where caregivers reflect on important psychosocial issues faced by patients, their families, and their caregivers, and gain insight and support from fellow staff members. Caring for colleagues who develop cancer is a privilege woven with an extra dimension-caregiver-patient issues. As well as stretching the usual need for a supportive relationship, when one of the health care team develops cancer it particularly provokes concerns about our own mortality. The case is presented of a well-known physician who developed a second cancer and has been cared for at the MGH Cancer Center Staff discuss her care as it has been effected by her status as a colleague. They perceived unique barriers to optimal care such as assumptions about the patient's level of medical knowledge, and technical, informational, emotional, and hierarchical issues that may obstruct the development of a trusting relationship between caregivers and the physician/patient. Emotional stress may prevent the sharing of an accurate prognosis. In the case under consideration, the patient had a frank and open attitude to her cancer yet her caregivers were concerned about continual breeches of patient confidentiality. Despite the many potential problems inherent when the caregiver becomes the patient, this case discussion was a poignant reminder of the unique challenges of every experience with cancer and the weighty privilege of being involved with patient care.