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PubMedDate not supplied

Multiple endocrine neoplasia type 2a (MEN2a): a call for psycho-social research.

This paper summarizes what is known about the diagnosis, treatment, and follow-care of people with the inherited disorder multiple endocrine neoplasia type 2a (MEN2a). Several databases were searched throughout the year 2000, including MEDLINE, CINAHL, CancerLit, PsychINFO, and Dissertation Abstracts International. MEN2a is a complex disease involving cancer care and control by surgery, health maintenance, and life-long observation of gene mutation carriers. Genetic testing is the standard of care, prophylactic surgery is recommended during directive counseling, and life-long surveillance is encouraged for people with MEN2a. A substantial body of scientific literature describes morbidity and mortality outcomes of disease treatment, and the monitoring of multiple organ systems. Research is scant concerning the psychological consequences and social impact of the MEN2a diagnosis, treatment, and follow-up. Nearly all that is known from a psycho-social perspective comes from data in The Netherlands. Little is known of the psychological responses to and social consequences of genetic predisposition testing, prophylactic and curative surgery, and life-long surveillance. Psycho-social research is essential to provide comprehensive care for patients and family members with this disorder and it is necessary to guide the development of risk management strategies for patients with this inherited cancer syndrome. Since MEN2a has been labeled a prototype for medical genetics, information on MEN2a patient experiences may be relevant to the care of individuals with other inherited cancer syndromes.

Adaptation, Psychological↗

PubMed1995

Isolated atherosclerotic aneurysms of the iliac arteries.

Atherosclerotic aneurysms limited to the iliac arteries are rare and entail a high risk of rupture. To evaluate the efficacy of prophylactic surgery, we retrospectively studied 15 patients (13 men and two women; mean age 69 years) treated for isolated iliac aneurysms in the Department of Cardiovascular Surgery at the University Hospital of Liège over a period of 18 years. They had a total of 25 aneurysms (20 common iliac and five internal iliac). Six patients were treated electively and nine on an emergency basis for rupture. Five of the emergency patients (33%) died in the early postoperative period (< 30 days); in each case the aneurysm had ruptured and an emergency operation was performed (55.5% mortality in the ruptured iliac aneurysm group). On the other hand, all patients treated electively survived. Our study is comparable to other recent series in the literature, which also reported a high incidence of rupture and death in emergency operations. Prophylactic elective surgery is recommended for iliac aneurysms.

Aged↗

PubMed2006

Is prophylactic cholecystectomy useful in obese patients undergoing gastric bypass?

BACKGROUND: Obesity constitutes a clear risk factor for cholelithiasis, especially if it is associated with a rapid weight loss, as is the case of patients following bariatric surgery. Prophylactic cholecystectomy is indicated in biliopancreatic diversions due to the high incidence of postoperative cholelithiasis. However, there is no agreement on gastric bypass. This study was conducted to establish the incidence of cholecystopathy demonstrated by histology and to assess the indication for prophylactic cholecystectomy in a systematic way on patients undergoing gastric bypass. METHODS: The evaluation is based on 100 consecutive morbidly obese patients undergoing open gastric bypass surgery with concomitant prophylactic cholecystectomy. Variables studied were: age, gender, body mass index, preoperative ultrasound and the anatomopathologic analysis of the gallbladder that was removed. RESULTS: Of the 100 patients who took part in the trial, 11 had had a previous cholecystectomy. Among the 89 patients remaining, preoperative ultrasound diagnosis of cholelithiasis was 16.8%, and the actual postoperative incidence was 24.7%. Other histologic alterations were: cholesterolosis 46.1%, chronic unspecified cholecystitis 22.5%, and granulomatous cholecystitis 1.1%. The total incidence of cholecystopathy was 93.3%. The morbi-mortality related to cholecystectomy was 0%. CONCLUSIONS: Based on these results and given the absence of morbidity, we believe that prophylactic cholecystectomy is suitable during open gastric bypass.

Adult↗

PubMed2006

Family Systems genetic Illness Model--breast cancer.

Mrs. R and others like her are having prophylactic surgery to prevent breast cancer based primarily on their family history, personal history, and environmental risks. Although the clinical application of genetics medical research is in its infancy, its relevance to breast cancer already is making significant I advances toward more accurate prognosis and treatment options for women and their families. Illness and death from breast cancer continue to limit human existence, whereas new information and medical treatments increase the complexity of healthcare decisions and family life. Rolland and Williams' (2005) FSGI Model helps nurses and advanced practice nurses understand how illnesses such as breast cancer likely will affect patients' lives and families, well before any biologic markers are detectable. Considering the complexity of medical information that currently is available and the risks involved in genetic testing for breast cancer, the best recommendation at this time for people with a family history of breast cancer is to see a genetics counselor. Nurses can help individuals and families prepare for counselors by giving them a list of helpful questions and recommending that they bring a trusted family member or confidant to the meeting. For women who decide to have prophylactic breast surgery, nurses play a significant role in helping them prepare for the emotional and physiologic ramifications. The FSGI Model anticipates the time when families will have an overall genetic risk profile, which can guide them in their prevention efforts and truly give them informed consent.

Adaptation, Psychological↗

PubMed2002

Effect of prevention strategies on survival and quality-adjusted survival of women with BRCA1/2 mutations: an updated decision analysis.

PURPOSE: This study updates findings regarding the effects of prophylactic surgery, chemoprevention, and surveillance on the survival and quality-adjusted survival of women who test positive for BRCA1/2 mutations. MATERIALS AND METHODS: Markov modeling of outcomes was performed in a simulated cohort of 30-year-old women who tested positive for BRCA1/2 mutations. The model incorporated breast and ovarian cancer incidence rates from the literature and mortality rates from the Surveillance, Epidemiology, and End Results Program. Quality adjustment of survival estimates were obtained from a survey of women aged 33 to 50 years. Sensitivity analyses were performed of varied assumptions regarding timing and effects of preventive measures on cancer incidence and adverse effects. RESULTS: A 30-year-old woman could prolong her survival beyond that associated with surveillance alone by use of preventive measures: 1.8 years with tamoxifen, 2.6 years with prophylactic oophorectomy, 4.6 years with both tamoxifen and prophylactic oophorectomy, 3.5 years with prophylactic mastectomy, and 4.9 years with both surgeries. She could prolong her quality-adjusted survival by 2.8 years with tamoxifen, 4.4 years with prophylactic oophorectomy, 6.3 years with tamoxifen and oophorectomy, and 2.6 years with mastectomy, or with both surgeries. The benefits of all of these strategies would decrease if they were initiated at later ages. CONCLUSION: Women who test positive for BRCA1/2 mutations may derive greater survival and quality adjusted survival benefits than previously reported from chemoprevention, prophylactic surgery, or a combination. Observational studies and clinical trials are needed to verify the results of this analysis of the long-term benefits of preventive strategies among BRCA1/2-positive women.

Adult↗

PubMed2026

Brazilian Society of Surgical Oncology Analysis in Cost-Effectiveness of Population-Based BRCA Testing for Ovarian Cancer in the Public Health System.

Although ovarian cancer is the most lethal among gynecological cancers, access to massive BRCA testing is still limited. Its cost-effectiveness is still a topic of discussion in several countries. In Brazil, olaparib was recently incorporated into the public health system, access to BRCA testing is still limited. In this article, we aim to review the cost-effectiveness of offering BRCA testing to the at-risk population. A working group composed of 14 specialists in surgical oncology and cancer genetics was established to discuss the cost-effectiveness of population-based BRCA testing for ovarian cancer. The project was divided into five main areas, each with subtopics assigned among the 14 participants. They were: the existing clinical testing guidelines, the current healthcare infrastructure in the Brazilian public health system, cost-effectiveness analysis, challenges in implementing prophylactic surgeries, and family counseling and risk communication. A comprehensive literature review was conducted, followed by a series of meetings among the article's contributors to reach consensus on unresolved issues. These discussions aimed to build recommendations based on the best available scientific evidence. Using as a basis the current structure already existing within the Brazilian public health service (SUS [Sistema Único de Saude]), and based on the testing of the at-risk population chosen by our experts, we estimated savings. The net savings for a population of 100 000 women would range from BRL 7030.30 (US$1255.41) to BRL 1853.92 (US$331.05). And these costs could have an even greater impact when public service PARP inhibitors are incorporated. The working group of the Brazilian Society of Surgical Oncology understands that large-scale BRCA testing is cost-effective, especially when risk-reducing surgery is implemented. Other measures are important, such as training teams of non-specialists to recognize the population at risk, in addition to creating an entire line of care for patients with ovarian cancer in the SUS.

Humans↗

PubMed1985

Complications with antibiotics used prophylactically in joint replacement surgery: a case report of cephradine-induced pseudomembranous colitis.

A woman underwent joint replacement surgery with prophylactic antibiotic cover, and subsequently died as a result of pseudomembranous colitis. We have noted a high incidence of antibiotic diarrhoea with cephradine, and suggest that if administration of prophylactic antibiotics is restricted to 3 days or less, the incidence of diarrhoea would diminish, and the therapeutic value of the antibiotics would be maintained.

Aged↗

PubMed2003

Congenital scoliosis.

Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord, kidney.) are frequently observed. A perfect understanding of the natural history of the deformity and the treatment principles will allow best management of these complex spine deformities. New imaging techniques like three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) are important tools for analyzing the underlying deformity and understanding the evolution of the complex deformities. The mainstay of treatment is either observation or, in case of curve progression (>10 degrees /year), surgery. Different surgeries are described with two main principles: (1) prophylactic surgeries like hemiepiphysiodesis or in situ fusions that will prevent worsening or allow progressive correction over time, and (2) corrective surgeries, with spinal fusion with or without spinal resection. Exceptional procedures (e.g. spinal column resection or halo distraction) can be attempted in cases of very severe deformity. Congenital curves must be carefully observed to choose the least invasive procedure at the right time and to minimize spinal cord risks.

Child↗

PubMed2002

E-cadherin mutations and hereditary gastric cancer: prevention by resection?

BACKGROUND: A small percentage of gastric cancers (1-3%) arise as a result of clearly identified inherited gastric cancer predisposition syndromes. Recently, linkage analysis has implicated E-cadherin (CDH1) mutations in a subset of dominantly inherited gastric cancers termed hereditary diffuse gastric cancer (HDGC). Heterozygotes with the CDH1 mutation have a 70-80% chance of developing gastric cancer and once patients have invasive, symptomatic disease there is a high associated morbidity and mortality. As a result prophylactic gastrectomy has been advocated for affected family members identified by genetic screening. There are many issues to be considered in order to determine whether prophylactic gastrectomy is the optimal management strategy for these patients. METHODS: A MEDLINE literature search was performed and combined with our own experience in order to identify relevant background information on hereditary gastric cancer. In particular we extracted information about prophylactic gastrectomy in HDGC patients. RESULTS: Once the decision has been undertaken to perform genetic testing, the therapeutic options are either endoscopic screening with the aim of identifying an early, curable lesion or prophylactic surgery. Two groups have published their data on prophylactically resected stomachs in asymptomatic patients from affected families. In these series all of the post-gastrectomy specimens had microscopic evidence of diffuse gastric cancer confined within the mucosal layer. These early cancers had not been identified by endoscopic surveillance. Technical issues surrounding the age at which to operate, the best operation to reduce the risk of post-operative complications and the risk of other cancers developing in other organs in these patients are still controversial. Long-term follow-up studies in specialist centres are required to resolve these issues. CONCLUSIONS: From the limited experience so far the estimated risk reduction of gastric cancer by gastrectomy is significant.

Cadherins↗

PubMed2001

Inherited genetic susceptibility to breast cancer.

Inherited genetic susceptibility to breast cancer can be due both to genes which confer a high degree of risk and to polygenes which have a smaller effect on disease risk. An estimated 5-10% of breast cancer is considered to be due to mutations in genes conferring high risk which results in hereditary patterns of disease. Two major breast cancer susceptibility genes, BRCA1 and BRCA2, which were identified using linkage analysis in large extended breast and/or ovarian cancer pedigrees, are estimated to account for the majority of large families with breast/ovarian cancer predisposition and about two-thirds of large breast cancer families. The associated lifetime risk for breast cancer in mutation carriers ranges from 40% to 90%, depending on the extent of family history and the population. Other genetic factors, such as HRAS or CAG repeats of AR, as well as reproductive and hormonal factors may therefore modify cancer risk. Women at particularly high risk of developing breast cancer represent a group in whom expensive and rigorous screening programmes are cost-effective and who may benefit from trials of chemoprevention. There are only preliminary data on the efficacy of increased surveillance and on risk reduction due to prophylactic surgery. However, for chemoprevention to be equivalent to prophylactic mastectomy, it will be necessary to strive for an equivalent reduction. The efficacy of chemoprevention in this high-risk population is unknown. Existing and new agents for chemoprevention need to be carefully assessed in properly designed clinical trials among such women. In the process, other factors modifying the penetrance in mutation carriers need to be taken into account in order to evaluate the true effect of the chemopreventive agents. Polygenes confer much lower levels of risk and may be relevant for risk assessment when the effects of multiple loci, possibly in conjunction with environmental factors, are understood and quantified. At present, it seems unlikely that the genetic information at single polygenes will be clinically relevant for risk assessment and management.

Biomarkers, Tumor↗

PubMedDate not supplied

Prophylaxis of infection following colorectal surgery.

Due to the high incidence of infective complications following colorectal surgery, prophylactic application of systemic antibiotics is required. In a prospective, randomised study of 34 patients who underwent elective colorectal surgery, it was found that a single 1 g dose of cefotaxime was as effective as three doses in controlling post-operative infections. Both groups received 500 mg metronidazole i.v. every 12 h for 72 h, with the first dose administered immediately prior to surgery. The results indicate that prophylactic cefotaxime and metronidazole are effective in reducing the incidence of septic complications following colorectal surgery; nevertheless, a study with a larger number of patients is needed to reach a definitive conclusion.

Adolescent↗

PubMed1995

[Scar carcinoma as a late complication after burns].

Carcinomas, mainly of the squamous cell type, may occur in burn scars from 3 months to 75 years after the burn injury, and they have a poor prognosis. Therefore, unstable scars, chronic ulcers and tumors must be subjected to histological examination as soon as possible. If a malignant tumor is present, the therapy of choice is wide local excision, though in the event of progressive tumor development an ablative procedure may be necessary. Early radical surgery is important. Unstable scars should be investigated to allow prophylactic surgery to be performed if appropriate [4]. Early mobilization of the (mostly elderly) patients is important. Three case reports of patients with burn scar carcinoma are presented.

Aged↗

PubMed1985

Squamous cell carcinoma of the extremities.

Between January 1976 and January 1983, 37 cases of squamous cell carcinoma of the extremities have been treated at the King Faisal Specialist Hospital and Research Centre by the authors. Each case has arisen in an area of preexisting scar or sinus. Twenty-nine cases were treated by definitive amputation, with 2 local recurrences and 12 nodal metastases. Seven cases had local excision, with three local recurrences and two nodal metastases. Recurrence rate was highest in Grade II and Grade III lesions, and 11 of 15 cases with Grade II disease had metastases to the regional lymph nodes an average of 5 months after surgery. With Grade I disease patients, 4 of 15 had nodal metastases an average of 5 months after surgery. Prophylactic regional nodal irradiation or node dissection was performed in seven cases. None of these cases have shown nodal metastases at an average of 24 months following definitive surgery and radiation. Routine prophylactic regional node irradiation is recommended in all cases of peripheral squamous cell carcinoma.

Adolescent↗

PubMed1990

[Need for surgery in asymptomatic carotid stenosis].

1. Asymptomatic carotid stenosis up to 80% do not require prophylactic surgery, but should be followed non-infasively. 2. Stenoses of 80-99% are associated with a significant incidence of stroke which is estimated to be 4-10%/year. 3. Occlusion is considered to be an unfavorable end point, since the risk of stroke remains higher than those with patent arteries. 4. The role of carotid endarterectomy is related to the stroke morbidity and mortality of the procedure. To show significant benefits of surgical therapy during the first two years, it is necessary to have a stroke/death rate of less than 3%.

Carotid Stenosis↗

PubMed2004

Collaboration of breast cancer clinic and genetic counseling division for BRCA1 and BRCA2 mutation family in Japan.

BACKGROUND: BRCA1 and BRCA2 mutations cause high breast cancer incidence rates as high as 80% Although prophylactic therapy is still controversial, several prophylactic therapies have been proposed and tried for BRCA1 and BRCA2 mutation carriers. Prophylactic surgery, chemo-prevention and precise screening have been proposed as prophylactic therapy. All BRCA1 and BRCA2 mutation carriers need knowledge about their disease and the countermeasures that are used to protect against onset of disease. Counseling plays an important role in this regard for people with genetic diseases. Therefore, collaboration between breast cancer clinics and genetic counseling services is the most important issue in clinical practice. Our group consists of three national universities and a general hospital. In this article we describe our trial to construct a clinical system against hereditary breast cancer as an interim report for the Japanese Ministry of Health, Labour and Welfare. PATIENTS AND METHODS: Twenty familial breast cancer patients were registered in this study. The whole sequence of BRCA1 and BRCA2 were analyzed. If pathological mutations were detected, their first degree families were introduced to the counseling division at each institute when candidates visited counseling divisions. RESULTS AND DISCUSSION: Four cases of a deleterious mutation in BRCA1 or BRCA2 were detected among 20 cases. Their first degree relatives are now under consideration for visiting counseling divisions. The clinical system described in this study should play a role to protect BRCA1 or BRCA2 mutation carriers in Japan.

Breast Neoplasms↗

PubMedDate not supplied

Is prophylactic diabetic foot surgery dangerous?

Any treatment rendered to the deformed, insensate foot should be undertaken with the prime intentions of reducing the potential for future limb-threatening events and allowing the patient to continue as an ambulatory, productive member of society. The purpose of this article is to compare morbidity and outcomes of elective foot surgery among diabetics and nondiabetics with isolated toe deformities. We compared the prevalence of infection, wound complication, and recurrence of ulcers in 31 diabetics and 33 nondiabetics. All of these patients received a single proximal interphalangeal joint arthroplasty with a mean follow-up of 3 years (range 12 to 61 months). The diabetic group was divided into two subgroups: 1) insensate with deformity, but no history of ulceration, and 2) insensate with deformity and a previous history of ulceration. Diabetics with a history of ulceration were more likely to experience a postoperative infection (14.3%) than neuropathic diabetic patients with no history of ulceration (0%) and nondiabetic subjects (0%) (p = 0.04, Cl = 3.1 to 8.6). There was not a significant difference in prevalence of dehiscence among diabetic and nondiabetic groups (16.1% versus 9.1%, respectively, Cl = 0.4 to 8.8). The long-term outcomes after prophylactic surgery at a site of previous ulceration were uniformly good, with 96.3% of patients remaining ulcer-free a mean of 3 years postoperatively.

Aged↗

PubMedDate not supplied

Surgical gastro-intestinal complications in 277 renal transplantations.

In 277 consecutive renal transplantations, 49 of 254 patients (19%) developed a gastrointestinal complication causing a mortality rate of 29% (14/49 patients). Oesophageal, gastro-duodenal, pancreatic and ileocolonic complications are reviewed and discussed. Acute gastro-duodenal ulcerations proved to be the most common problem (45--22/49 patients). The loss of allograft in this group of 22 patients was 42% (9/22 patients). To overcome their high mortality (27%--6/22 patients) efforts were made to prevent these complications. After introduction of prophylactic surgery, mortality dropped from 4 to 2%, after systematic long-term prophylactic use of cimetidine, mortality even dropped to 0%. In this last series of 52 patients only one bleeding ulcer was seen immediately after allograft nephrectomy. Ileocolonic complications in renal transplant patients, difficult to diagnose and treat, are associated with a high morbidity and lethality. In 6 patients with colonic complications, 4 could be saved by early and aggressive surgery (67% survival rate). Two recipients developed a de novo gastrointestinal malignancy. Early, accurate, diagnosis and surgical therapy of gastro-intestinal complications after renal transplantation are directly related to the graft and/or patient survival rate. Every effort is therefore necessary to prevent these complications.

Gastrointestinal Diseases↗

PubMed2002

[Treatment of primary retinal detachment. Minimal extraocular or intraocular?].

The developments in treatment modalities for a primary retinal detachment over the last 70 years have been reviewed. There was a change from a surgery limited to the area of the break to a form of prophylactic surgery including the extent of the detachment. In between Rosengren had limited the treatment to the break with an intraocular gas bubble. A change was brought about by Custodis in 1953 who limited surgery to the break and omitted drainage. This procedure had serious postoperative complications which were eliminated by Lincoff by developing the cryosurgical detachment operation which was subsequently refined to extraocular minimal surgery. The ultimate realization of a minimal extraocular approach was the operation with a temporary balloon. Two additional intraocular procedures evolved, pneumatic retinopexy and primary vitrectomy, following one or the other pattern of treatment. With all four methods reattachment can result in 94-99% of the cases but differences can be seen in the morbidity and rate of reoperations.

Catheterization↗