Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.

BACKGROUND: Rapid genetic counseling and testing (RGCT) in newly diagnosed high-risk breast cancer (BC) patients may influence surgical treatment decisions. To successfully integrate RGCT in practice, knowledge of professionals', and patients' attitudes toward RGCT is essential. METHODS: Between 2008 and 2010, we performed a randomized clinical trial evaluating the impact of RGCT. Attitudes toward and experience with RGCT were assessed in 265 patients (at diagnosis, 6- and 12-month follow-up) and 29 medical professionals (before and after the recruitment period). RESULTS: At 6-month follow-up, more patients who had been offered RGCT felt they had been actively involved in treatment decision-making than patients who had been offered usual care (67% vs 48%, P = 0.06). Patients who received DNA-test results before primary surgery reported more often that RGCT influenced treatment decisions than those who received results afterwards (P < 0.01). Eighty-seven percent felt that genetic counseling and testing (GCT) should preferably take place between diagnosis and surgery. Most professionals (72%) agreed that RGCT should be routinely offered to eligible patients. Most patients (74%) and professionals (85%) considered surgeons the most appropriate source for referral. CONCLUSIONS: RGCT is viewed as helpful for newly diagnosed high-risk BC patients in choosing their primary surgery and should be offered routinely by surgeons.

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial.

PURPOSE: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT. METHODS: Newly diagnosed breast cancer patients at risk for carrying a BRCA1/2 mutation were randomized to an intervention group (offer of RGCT) or a usual care control group (ratio 2:1). Psychosocial impact and quality of life were assessed with the Impact of Events Scale, Hospital Anxiety and Depression Scale, Cancer Worry Scale, and the EORTC QLQ-C30 and QLQ-BR23. Assessments took place at study entry and at 6- and 12-month follow-up visits. RESULTS: Between 2008 and 2010, 265 patients were recruited into the study. Completeness of follow-up data was more than 90%. Of the 178 women in the intervention group, 177 had genetic counseling, of whom 71 (40%) had rapid DNA testing and 59 (33%) received test results before surgery. Intention-to-treat and per-protocol analyses showed no statistically significant differences between groups over time in any of the psychosocial outcomes. CONCLUSIONS: In this study, RGCT in newly diagnosed breast cancer patients did not have any measurable adverse psychosocial effects.

Systematic review of sentinel lymph node mapping procedure in colorectal cancer.

BACKGROUND: The clinical impact of sentinel lymph node (SN) biopsy in colorectal cancer is still controversial. The aim of our study was to determine the accuracy of this procedure from published data and to identify factors that contribute to the conflicting reports. METHODS: A systematic search of the Medline, Embase, and Cochrane databases up to July 2011 revealed 98 potentially eligible studies, of which 57 were analyzed including 3,934 patients (3,944 specimens). RESULTS: The pooled SN identification rate was 90.7% (95% CI 88.2-93.3), with a significant higher identification rate in studies including more than 100 patients or studies using the ex vivo SN technique. The pooled sensitivity of the SN procedure was 69.6% (95% CI 64.7-74.6). Including the immunohistochemical findings increased the pooled sensitivity of SN procedure to 80.2% (95% CI 4.7-10.7). Subgroups with significantly higher sensitivity could be identified: ≥4 SNs versus <4 SNs (85.2 vs. 66.3%, p = 0.003), colon versus rectal cancer (77.6 vs. 65.7%, p = 0.04), early T1 or T2 versus advanced T3 or T4 carcinomas (93.4 vs. 58.8%, p = 0.01). Serial sectioning and immunohistochemistry resulted in a mean upstaging of 18.9% (range 0-50%). True upstaging defined as micrometastases (pN1mi+) rather than isolated tumor cells (pN0itc+) was 7.7%. CONCLUSIONS: The SN procedure in colorectal cancer has an overall sensitivity of 70%, with increased sensitivity and refined staging in early-stage colon cancer. Because the ex vivo SN mapping is an easy technique it should be considered in addition to conventional resection in colon cancer.

[CT strategy for patients with suspected acute appendicitis; comparison of conditional and immediate CT]. / CT-strategie bij vermoeden van acute appendicitis; vergelijking van conditionele en directe CT.

OBJECTIVE: To compare the diagnostic accuracy of conditional CT strategy, i.e. CT if ultrasound findings are negative or inconclusive, with immediate CT strategy for patients with suspected appendicitis. DESIGN: Subanalysis of a prospective multicenter diagnostic accuracy study. METHOD: Only data of patients with signs of appendicitis based on medical history, physical examination, and laboratory tests were analyzed. All patients underwent both ultrasound and CT. Images of each were read by different observers who were blinded to the results of the other imaging modality. The observer then selected the most likely diagnosis. These diagnoses were compared with the reference standard, i.e. final diagnoses as assigned by an expert panel based on all available data and at least 6 months of follow-up. RESULTS: A total of 422 patients with suspected appendicitis were included. In 251 patients the final diagnosis was acute appendicitis (59%). In 199 patients (47%), ultrasound findings were inconclusive or negative. Use of conditional CT strategy resulted in correctly identified number of correctly identified patients with appendicitis, i.e. 96% (95% CI 93-98), versus 95% identified by immediate CT (95% CI 91-97). However, conditional CT strategy resulted in more false positive diagnoses compared with immediate CT (39 versus 22), had an accompanying lower specificity of 77% (95% CI 70-83) versus 87% (95% CI 81-91), and a lower positive predictive value of 86% (95% CI 81-90) versus 92% (95% CI 87-95). CONCLUSION: Use of a conditional CT strategy results in exactly the same number of patients with correctly identified acute appendicitis while halving the number of CTs needed. However, conditional strategy results in more false positive diagnoses.

A simple clinical decision rule to rule out appendicitis in patients with nondiagnostic ultrasound results.

OBJECTIVES: The objective was to identify a set of clinical features that can rule out appendicitis in patients with suspected acute appendicitis and nondiagnostic ultrasound (US) results, allowing safe discharge and next-day reevaluation without initial computed tomography (CT) or magnetic resonance imaging (MRI). METHODS: Data on clinical and US evaluation, including a number of prespecified variables potentially associated with acute appendicitis, were prospectively collected in two diagnostic accuracy studies of imaging. These studies included patients with suspected appendicitis seen in the emergency department (ED). For development and validation of the clinical decision rule (CDR), only patients with inconclusive or negative US results were included. There were 199 (of 422) patients in the development cohorts and 120 (of 211) patients in the validation cohort. Logistic regression analysis was used for data from patients with inconclusive or negative US results, and profiles were created of all possible combinations of predictors retained in the multivariable model. A final diagnosis was assigned by an expert panel based on perioperative data, histopathology, and clinical follow-up of at least 3 months. RESULTS: The CDR selected patients after negative or inconclusive US for discharge and next-day reevaluation without initial CT or MRI if fewer than two of the following predictors were present: male sex, migration of pain to the right lower quadrant, vomiting, and white blood cell (WBC) count higher than 12.0 × 10(9) /L. Applying the CDR in the development set selected 126 of 199 (63%) patients with negative or inconclusive US results for discharge without further imaging. This rule reduced the probability of appendicitis from 26% (51 of 199) in the total group of patients with negative or inconclusive US results to 12% (15 of 126) in the group that would be discharged based on the rule (p = 0.001). In the validation set (n = 120), the decision rule selected 72 (60%) patients for discharge and next-day reevaluation and reduced the probability of appendicitis from 20% (24 of 120) in the total group to 6% (4 of 72) in the patients selected on the rule (p = 0.001). The negative predictive value of the decision rule in the validation set was 94% (95% confidence interval [CI] = 87% to 98%). In comparison, the negative predictive value of CT in the same group was 99% (95% CI = 93% to 100%, p = 0.14), and that of MRI was 99% (95% CI = 94% to 100%, p = 0.12). Alternative decision rules based on combinations of the present decision rule with C-reactive protein (CRP) results did not improve selection. CONCLUSIONS: This newly developed CDR significantly reduces the probability of appendicitis in a large subgroup of patients with negative or inconclusive US results. These patients can be safely discharged for outpatient reevaluation without further initial imaging if proper follow-up is available. This could assist in lowering the number of ED imaging investigations in patients with suspected appendicitis.

Single and combined diagnostic value of clinical features and laboratory tests in acute appendicitis.

OBJECTIVES: The objective was to evaluate the diagnostic accuracy of clinical features and laboratory test results in detecting acute appendicitis. METHODS: Clinical features and laboratory test results were prospectively recorded in a consecutive series of 1,101 patients presenting with abdominal pain at the emergency department (ED) in six hospitals. Likelihood ratios (LRs) and the areas under the receiver operating characteristic curve (AUC) were calculated for the individual features. Variants of clinical presentation, based on different combinations of clinical features, were investigated and the accuracies of combinations of clinical features were evaluated. RESULTS: The discriminative power (AUC) of the individual features in patients with suspected appendicitis ranged from 0.50 to 0.65. For five of the 23 predictor sets, the accuracy for appendicitis was more than 85%. This accuracy was only found in male patients. The relative frequency of these predictor sets ranged from 2% to 13% of patients with suspected appendicitis. A combination of the clinical features migration of pain to the right lower quadrant (RLQ), and direct tenderness in the RLQ, was present in only 28% (120/422) of clinically suspected patients, of whom no more than 85 patients had appendicitis (71%). A "classical" presentation (combination of migration of pain to the RLQ, tenderness in the RLQ, and rigidity) occurred in only 6% (25/422) of patients with suspected appendicitis and yielded an accuracy of 100% in males but only 46% in females. CONCLUSIONS: The discriminative power (AUC) of individual clinical features and laboratory test results for appendicitis was weak in patients with suspected appendicitis. Combinations of clinical features and laboratory tests with high diagnostic accuracy are relatively infrequent in patients with suspected appendicitis.

Imaging strategies for detection of urgent conditions in patients with acute abdominal pain: diagnostic accuracy study.

OBJECTIVE: To identify an optimal imaging strategy for the accurate detection of urgent conditions in patients with acute abdominal pain. DESIGN: Fully paired multicentre diagnostic accuracy study with prospective data collection. SETTING: Emergency departments of two university hospitals and four large teaching hospitals in the Netherlands. PARTICIPANTS: 1021 patients with non-traumatic abdominal pain of >2 hours' and <5 days' duration. Exclusion criteria were discharge from the emergency department with no imaging considered warranted by the treating physician, pregnancy, and haemorrhagic shock. INTERVENTION: All patients had plain radiographs (upright chest and supine abdominal), ultrasonography, and computed tomography (CT) after clinical and laboratory examination. A panel of experienced physicians assigned a final diagnosis after six months and classified the condition as urgent or non-urgent. MAIN OUTCOME MEASURES: Sensitivity and specificity for urgent conditions, percentage of missed cases and false positives, and exposure to radiation for single imaging strategies, conditional imaging strategies (CT after initial ultrasonography), and strategies driven by body mass index and age or by location of pain. RESULTS: 661 (65%) patients had a final diagnosis classified as urgent. The initial clinical diagnosis resulted in many false positive urgent diagnoses, which were significantly reduced after ultrasonography or CT. CT detected more urgent diagnoses than did ultrasonography: sensitivity was 89% (95% confidence interval 87% to 92%) for CT and 70% (67% to 74%) for ultrasonography (P<0.001). A conditional strategy with CT only after negative or inconclusive ultrasonography yielded the highest sensitivity, missing only 6% of urgent cases. With this strategy, only 49% (46% to 52%) of patients would have CT. Alternative strategies guided by body mass index, age, or location of the pain would all result in a loss of sensitivity. CONCLUSION: Although CT is the most sensitive imaging investigation for detecting urgent conditions in patients with abdominal pain, using ultrasonography first and CT only in those with negative or inconclusive ultrasonography results in the best sensitivity and lowers exposure to radiation.

Septic thrombosis of the inferior vena cava treated with percutaneous mechanical thrombectomy.

The present report describes a patient with septic thrombosis of the inferior vena cava (IVC) related to a subhepatic abscess adjacent to the IVC. Despite prolonged antimicrobial therapy and systemic anticoagulation, sepsis and septic embolism persisted while the size of the thrombus increased. Percutaneous mechanical thrombectomy was performed, resulting in removal of the infected thrombus and complete clinical recovery.

Overgrowth and correction of rotational deformity in 12 femoral shaft fractures in 3-6-year-old children treated with an external fixator.

We treated 11 young children (3-6 years old) who had uncomplicated femoral shaft fractures primarily with an external fixator. 9 children were available for follow-up and were evaluated for the amount of overgrowth and rotational deformity. All underwent a clinical examination and an MRI after mean 21 (13-25) months. The mean overgrowth was 0.4 (-0.3-1.1) cm and the anteversion angle showed a mean increase of 12 degrees, as compared to the contralateral femur. In 5 children with an anteversion angle difference of 10 degrees or more, a second MRI was done 4 years after the trauma. The mean anteversion angle difference of the femora in these 5 children had diminished from 15 degrees on the first MRI to 7.4 degrees on the second. 3 of the 5 children had a full correction of their rotational deformity. Growth did not correct the rotational deformity in the oldest child in this group.