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PubMed2005

The decision evaluation scales.

There are several instruments to assess how patients evaluate their medical treatment choice. These are used to evaluate decision aids. Our objective is to investigate which psychological factors play a role when patients evaluate their medical treatment choices. A pool of 36 items was constructed, covering concepts such as uncertainty about and satisfaction with the decision, informed choice, effective decision making, responsibility for the decision, perceived riskiness of the choice, and social support regarding the decision. This pool was presented to patients at high risk for breast and ovarian cancer, awaiting a genetic test result, and facing the choice between prophylactic surgery or screening. Additional measures were assessed for validation purposes. Factor and Rasch analyses were used for factor and item selection. Construct validity of emerging scales was assessed by relating them with the additional measures. Three factors summarised the psychological factors concerning decision evaluation: Satisfaction-Uncertainty, Informed Choice, and Decision Control. Reliabilities (Cronbach's alpha) of the three scales were 0.79, 0.85, and 0.75, respectively. Construct validity hypotheses were confirmed. The first two scales were similar to previously developed scales. Of these three scales, the Decision Control scale correlated most strongly with the well-being measures, was associated with partner's agreement and physician's preferences as perceived by patients, and with a negative emotional reaction to the information material. In conclusion, the Decision Control scale is a new scale to evaluate decision aids, and it appears to be rooted in health psychological theories.

Adult↗

PubMed2006

Medullary thyroid cancer.

The goal in managing patients who have MTC is to detect and surgically remove disease at an early stage. Tumor marker-based biochemical screening and DNA-based genetic screening have created the opportunity for effective prophylactic surgery in patients at risk for hereditary MTC. Complete surgical resection is critical for cure because cervical reoperation for persistent or recurrent disease benefits only select patients. With the advent of therapies that target the RET-activated pathways, new hope may be emerging for patients who have locally advanced or metastatic disease.

Calcitonin↗

PubMed2006

Third molar complications requiring hospitalization.

OBJECTIVE: The aim of this study was to describe demographic and clinical patterns of subjects hospitalized with complications associated with third molars (M3). STUDY DESIGN: The investigation was designed as a prospective cohort study composed of subjects admitted to hospital for management of M3-associated complications. The predictor variable was "clinical status of the M3" defined as (A) prophylactic M3 removal, (B) nonelective M3 removal, or (C) M3 present at the time of admission. Outcome variables were infection parameters, treatment costs, length of hospital stay, and days of disability. Postoperative complications (A and B) were compared to complications based on pericoronitis (C). Complications due to prophylactic removal (A) were compared to those arising from pericoronitis or from the removal of symptomatic teeth (B and C). RESULTS: From January 2003 to December 2004, 45 deep space infections, 6 mandibular fractures, 2 lingual nerve injuries, 1 parapharyngeal tooth luxation, and 1 osteomyelitis were noticed. Fifteen complications resulted from prophylactic surgery (A), 25 from nonelective removal (B), and 15 from pericoronitis (C). Direct treatment costs were 147,000 euro (A: 42,000 euro; B: 74,000 euro; C: 31,000 euro). In 10 of the 15 patients of group C, deep space involvement resulted immediately from the first episode of pericoronitis. Neither clinical markers of infection nor economic parameters showed significant differences between the groups. CONCLUSION: Within the catchment area of our institution, the majority of third molar-related hospitalizations resulted from diseased third molars or their removal.

Adolescent↗

PubMed1999

A practical approach to familial and hereditary colorectal cancer.

Recent genetic research has isolated the primary genetic defect underlying many of the hereditary colorectal cancer syndromes. Obtaining a detailed family history is the first step in identifying individuals at increased risk of developing colorectal cancer. Once identified, individuals and their families may benefit from earlier, more intensified surveillance, prophylactic surgery, cancer risk assessment and education, and genetic testing. Clinicians, especially those with many patients with colorectal cancer in their practice, must be able to address the complex issues associated with the familial and hereditary colorectal cancer syndromes. A well-integrated partnership among colorectal surgeons, gastroenterologists, oncologists, and medical geneticists is necessary to address these complex issues and provide comprehensive medical care.

Adenomatous Polyposis Coli↗

PubMed2001

Aortic root replacement in patients with Marfan's syndrome: the Southampton experience.

BACKGROUND: The purpose of this study was to evaluate the early and late clinical outcome after aortic root replacement (ARR) in patients with Marfan's syndrome. METHODS: A total of 65 consecutive patients with Marfan's syndrome (mean age 41.7 +/- 10.7 years, range 15 to 76 years) undergoing ARR between 1972 and 1998 in Southampton were studied. Of the patients, 45 had a chronic aneurysm of the ascending aorta and 20 had a type A dissection (16 acute and 4 chronic). The operations were elective in 38 and nonelective in 27 cases (emergency in 22 and urgent in 5). Mean size of the ascending aorta was 6.3 +/- 1.4 cm (3.8 to 12 cm). A Bentall procedure was performed in 62 and a homograft root replacement in 3 patients. Mean follow-up was 8 +/- 4.1 years (0 to 22.9 years). RESULTS: Operative mortality was 6.1% (4 deaths) (for the elective vs nonelective procedures it was 2.6% vs 11%, p = 0.2). The 10-year freedom from thromboembolism, hemorrhage, and endocarditis was 88%, 89.8%, and 98.4% (0.9%, 0.9%, and 0.2% per patient-year) and from late aortic events it was 86.3% (1.3% per patient-year). Aortic root replacement for dissection was an independent predictor of occurrence of late aortic events (p = 0.01). Five patients had a reoperation with one early death. The 10-year freedom from reoperation was 89.2% (1.1% per patient year) (for elective and nonelective procedures, 90.8% vs 84.6%, p = 0.6). The 10-year survival, including operative mortality, was 72.7% (for elective and nonelective procedures, 78% vs 66.5%, p = 0.6). Late aortic events was an independent adverse predictor of survival (p = 0.02). CONCLUSIONS: In patients with Marfan's syndrome, elective ARR, usually for chronic aneurysm, is associated with a low mortality, low rate of aortic complications, and good late survival. Nonelective ARR, mostly for dissection, has a greater operative risk and a significantly higher incidence of late catastrophic aortic events. Early prophylactic surgery in these patients is therefore recommended. Long-term clinical and radiologic follow-up to prevent or to treat late aortic events is highly desirable.

Adolescent↗

PubMed1980

Congenital coronary artery fistulae: six new cases with a collective review.

Primary congenital coronary artery fistula is diagnosed in two of every thousand patients investigated by angiocardiography. Males and females are equally affected and most frequently present under the age of 10 years. Fistulae originate from right and left coronary arteries in almost equal proportion but over 90% drain to the right side of the heart. Over half the patients present without symptoms but with a continuous murmur; as age increases so does the incidence of complications. Cardiac failure is the commonest complication. Three-quarters of patients presenting over the age of 40 have symptoms of cardiac failure. The clinical picture closely resembles that of patient ductus arteriosus but in a proportion of cases the physical signs and chest radiograph may suggest the diagnosis. A hitherto undescribed association of cardiac failure and a fistula from the left coronary artery to the left ventricle is reported. High-quality angiocardiography, preferably with selective coronary arteriography, is essential. Surgical correction carries a low mortality (2.2%) and is curative. The incidence of complications increases with age and prophylactic surgery is advocated before symptoms develop.

Adolescent↗

PubMed1989

Natural history of duodenal lesions in Japanese patients with familial adenomatosis coli (Gardner's syndrome).

The natural history of duodenal lesions was studied in 20 patients with familial adenomatosis coli/Gardner's syndrome. These patients were followed for an average of 7.1 yr (range 1 yr, 7 mo to 12 yr, 2 mo) and repeatedly examined by hypotonic duodenography, duodenofiberscopy, and biopsy. Tubular adenomas of the duodenum (less than 8 mm in diameter) were present in 18 (90%). During the follow-up period, there was a slight increase or decrease in the number of duodenal adenomas in 4 patients but no distinct change in 13. In the remaining patient (aged 49 yr), a polypoid lesion (17 mm in diameter) of the duodenal bulb, which had been overlooked at the initial examination, became an advanced cancer (50 x 30 mm in size) during 22 mo. Tubular adenomatous tissue of the duodenal papilla was detected in 11 patients (55%). Follow-up study of the lesions revealed no change in endoscopic and histologic findings in all but 1 patient, in whom there was a slight enlargement of the duodenal papilla, as seen at endoscopy. These findings suggest to us that in patients with this disease, duodenal adenomas do not require prophylactic surgery. However, careful repeated follow-up examinations with endoscopic biopsy should be performed, with endoscopic removal of larger polyps when possible.

Adenoma↗

PubMed2000

Surgical management of hereditary pancreatic cancer.

Pancreatic cancer continues to be a leading cause of cancer death in the United States. Seven genetic syndromes are now known to be associated with an increased incidence of pancreatic cancer. Other familial forms of pancreatic cancer exist although the genetic basis for this predisposition remains elusive. The similarities in the genetic and clinical manifestations of the sporadic and familial forms of pancreatic cancer suggest that pretreatment staging and management of patients with established pancreatic cancer should be similar. For carcinomas of the pancreatic head, pancreaticoduodenectomy should be performed according to current surgical practice, whereas the use of total pancreatectomy should be limited to cases in which margins are found to be positive or if the anatomy precludes a safe pancreaticojejunostomy. Total pancreatectomy may be considered in high-risk kindreds who strongly desire prophylactic surgery and in those with premalignant lesions. Identification of the precise genetic basis for inherited pancreatic cancer will someday make it possible to examine scientifically the effectiveness of specific management strategies.

Adenocarcinoma↗

PubMed2003

Management of the high-risk patient.

Comprehensive breast cancer risk management is a practical tool that can now be regarded as a necessary clinical component of women's health. Risk assessment is the starting point for counseling women about risk, and it facilitates rational decision-making about prophylactic surgery, initiation of screening at an early age, and initiating preventive interventions. The availability of risk assessment models permit rapid risk calculation during routine clinical encounters, and risk profiles can be easily updated at subsequent clinical visits. Clinicians can now incorporate risk assessment and management into their routine screening and health maintenance appointments. Additional prospective clinical trials should be conducted to define the optimal use of existing management strategies, develop refined risk assessment instruments that incorporate additional risk-factor information, and evaluate populations for whom validated risk-assessment approaches do not yet exist.

Adult↗

PubMed1999

Genetic testing for breast cancer predisposition.

The recent identification of the BRCA1 and BRCA2 genes has improved our understanding of the association between breast and ovarian cancers in certain families. Carriers of predisposing germline mutations must decide on different options for management, including close follow-up or prophylactic surgery. Further studies are needed to elucidate the optimal management of these patients and to identify the factors that modify their risk for developing breast cancer. Finally, we must work to prevent any form of discrimination against those who, following genetic testing, are found to be at increased risk for breast cancer.

BRCA2 Protein↗

PubMed2003

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Familial adenomatous polyposis (FAP) and attenuated FAP are autosomal dominant disorders characterised by multiple colorectal adenomas and cancers. Both are caused by inherited mutations in the APC gene, and management includes genetic testing, colonoscopic surveillance, and prophylactic surgery for the relatives of index cases. Among 614 families recorded in six regional registers of polyposis in the UK, we identified 111 with neither dominant transmission nor evidence of APC mutation. Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene. Since our data show that MYH polyposis can be transmitted as an autosomal recessive trait, a change in genetic counselling, testing, and surveillance is needed.

Adenomatous Polyposis Coli↗

PubMed1997

An update of HNPCC (Lynch syndrome).

Genetic epidemiology studies of colorectal cancer (CRC) can identify persons who are at inordinately high risk and who thereby might benefit from targeted early detection and primary prevention programs, inclusive of prophylactic surgery in selected cases. The discipline of molecular genetics has identified germline mutations that include APC in familial adenomatous polyposis (FAP) and mutator genes, namely MSH2, MLH1, PMS1, and PMS2 in hereditary nonpolyposis colorectal cancer (HNPCC). These discoveries have significantly enhanced our ability to identify individuals whose cancer destiny can literally be determined at birth. This review updates HNPCC's differential diagnosis, heterogeneity, tumor spectrum, newly found evidence of accelerated colonic adenoma to CRC, survival advantage, and currently available surveillance and management programs. Emphasis has been on how knowledge of the genetics and natural history of HNPCC can be used effectively to promote early diagnosis or prevention of cancer.

Adenomatous Polyposis Coli↗

PubMed1999

An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer.

The identification of BRCA1 and BRCA2 mutations has enabled physicians to identify persons at high risk for carcinoma of the breast and ovary in hereditary breast-ovarian cancer (HBOC) families. Many physicians have limited knowledge about the effective translation of these new discoveries into clinical practice settings. This problem is further confounded by the limited number of genetic counselors who have experience with cancer genetics. Genetic counseling about DNA test results was provided to 420 patients from 37 HBC/HBOC families. Descriptive data were collected and recorded about their responses to questions posed immediately before and after test results were disclosed. Findings disclosed a significant tendency of patients to overestimate rather than underestimate their risk (P < .001) prior to receiving results. The chief reason for declining to receive results was fear of insurance discrimination. The primary reason that patients sought test results was for their children. Most women reported that, if testing identified them as mutation carriers, they would consider lifetime surveillance and prophylactic surgery. Responses to DNA test results were varied and often unpredictable. Counseling by an appropriately educated and skilled professional is essential to assist people in making decisions regarding testing and health management.

Adult↗

PubMed2003

Simple radiographic parameter predicts fracturing in metastatic femoral bone lesions: results from a randomised trial.

BACKGROUND AND PURPOSE: In the randomised Dutch Bone Metastasis Study on the palliative effect of a single fraction (SF) of 8 Gy versus six fractions of 4 Gy on painful bone metastases, 14 fractures occurred in 102 patients with femoral metastases. Purpose of the present study was to identify lesional risk factors for fracturing and to evaluate the influence of the treatment schedule. MATERIAL AND METHODS: Pretreatment radiographs of femoral metastases were collected. Three observers separately measured the lesions and scored radiographic characteristics. RESULTS: Ten fractures occurred after median 7 weeks in 44 SF patients (23%) and four after median 20 weeks in 58 multiple fraction patients (7%) (UV, P=0.02). In 110 femoral metastases, an axial cortical involvement >30 mm significantly predicted fracturing (MV, P=0.02). Twelve out of 14 fractured lesions and 40 out of 96 non-fractured metastases had an axial cortical involvement >30 mm (negative predictive value, 97%). When correcting for the axial cortical involvement, the treatment schedule was not predictive anymore (MV, P=0.07). CONCLUSIONS: Fracturing of the femur mostly depended on the amount of axial cortical involvement of the metastasis. We recommend to treat femoral metastases with an axial cortical involvement < or =30 mm with an SF of 8 Gy for relief of pain. If the axial cortical involvement is >30 mm, prophylactic surgery should be performed to minimize the risk of pathological fracturing or, if the patient's condition is limited, irradiation to a higher total dose.

Female↗

PubMed1998

Risk factors and prophylactic tenosynovectomy for extensor tendon ruptures in the rheumatoid hand.

The cases histories of 51 rheumatoid arthritis patients (58 hands) were examined retrospectively with respect to the incidence of tendon rupture. Factors that were associated with tendon rupture such as X-ray changes in the wrist joint and clinical findings of the hand preceding the tendon rupture were statistically analysed. In a separate study, prophylactic tenosynovectomy and wrist synovectomy were performed on 42 joints in 35 patients who had two or more risk factors. This group of patients was then analysed for subsequent tendon rupture and recurrent synovitis. The risk factors for the extensor tendon rupture in the dorsal wrist joint were found to be: dorsal dislocation of the distal ulna; a scallop sign on X-ray; and tenosynovitis persisting for at least 6 months. Prophylactic surgery effectively prevented rupture of the tendons in patients who had two or more risk factors for extensor tendon rupture.

Adult↗

PubMed2002

Hereditary cancer: family history, diagnosis, molecular genetics, ecogenetics, and management strategies.

The translation of knowledge about hereditary breast cancer and its improved control, as well as prevention through prophylactic surgery, has been significantly accelerated through the veritable explosive discoveries in molecular genetics inclusive of BRCA1 and BRCA2 germline mutations. Needed however, among the physician community, medical geneticists, and genetic counselors, is a raised level of knowledge about hereditary breast cancer syndromes. Particular attention needs to be given to their extant genotypic and phenotypic heterogeneity, their natural history, and foremost, the requirement of a sufficiently detailed family history, with knowledge as to how to interpret its significance so that hereditary cancer syndrome can be diagnosed, should it, in fact, exist in the particular family. Collectively, surveillance and management programs can then be developed for the patient and his or her high-risk relatives. We believe very firmly that this knowledge needs to be extended to the individual patient(s), first- and second-degree relatives so that they can benefit from this knowledge.

Adenomatous Polyposis Coli↗

PubMed2001

Screening women at high risk of breast cancer on the basis of evidence.

Geneticists are able to identify the risk of breast cancer. Strategies on offer include prevention, early diagnosis by screening, and prophylactic surgery. This paper analyses the evidence for offering screening. The radiation dose of mammography has been measured, but the risk is not fully known. Mammography screening of women of 40-50 years in the normal population has known effect. Little evidence is available for women under 40 years or for women with genetic susceptibility to breast cancer. Dense parenchymal pattern is associated with high grade cancers, and is both a risk factor and a reason for impaired screening sensitivity. Whether this applies to younger women or women at high risk is speculative. The pathological features of the cancers in gene carriers show differences from those occurring in normal women. This work should be correlated with imaging features. There is no literature to support the use of newer imaging methods in these women. Ultrasound and MRI avoid radiation and may be useful in dense breasts. SestaMIBI and PET scanning are not yet mature enough for screening, and may never have such a role. Any newer modality must be subjected to a formal randomised trial before being offered to screen women at high risk.

Adult↗

PubMed1997

The genetics and natural history of hereditary colon cancer.

OBJECTIVES: To provide an overview of the genetics, natural history, surveillance and management of hereditary colorectal cancer with emphasis on hereditary nonpolyposis colorectal cancer (HNPCC). DATA SOURCES: Published research and review articles, clinical summaries, and personal experience. CONCLUSION: Hereditary factors may account for approximately 10% of colorectal cancer cases. Genes responsible for some of these disorders have been identified and cloned, making it possible to test family members for gene carrier status. Identification of individuals at highest risk for cancer could lead to more effective prevention and early detection. However, there are potential medical, psychological, and insurance problems inherent in predisposition testing that must be addressed. IMPLICATIONS FOR NURSING PRACTICE: Nurses can play a key role in identifying patients who may be at high risk for colorectal cancer by recognizing a significant cancer family history. A well-informed nurse can assist in counseling the patient so that he/she can be knowledgeable about all aspects of genetic testing. When a cancer genetic diagnostic has been established, nurses can be emotionally supportive and reinforce the importance for continued surveillance or prophylactic surgery.

Colorectal Neoplasms, Hereditary Nonpolyposis↗