scholarly journals A Randomized Trial to Maximize Identification and Genetic Counseling Referral of Women at Risk for Hereditary Breast and Ovarian Cancer

2021 ◽  
pp. 1-8
Author(s):  
Cecelia Bellcross ◽  
Cecelia Bellcross ◽  
April Hermstad ◽  
Christine Tallo ◽  
Chelsea Leonard ◽  
...  

Purpose: The Breast Cancer Genetics Referral Screening Tool (B-RST™) has been endorsed as one of several validated screening tools to identify women appropriate for cancer genetics referral. We conducted a randomized trial to determine the most effective means of follow-up for women who screened positive on B-RST™ 3.0. Methods: Women undergoing screening mammography at one of four Emory clinics were approached to complete the B-RST™. Participants who screened positive were randomized to one of three follow-up groups: self-referral (Group 1), electronic health record (EHR) clinician messaging (Group 2), or direct contact (Group 3). We compared genetic counseling appointment scheduling and completion rates by group. Results: Of 2,422 participants, 658 (27.2%) screened positive. Genetic counseling appointments were scheduled by 9.2%, 20.1% and 9.7% of Group 1, 2 and 3 participants respectively (p=0.001). Challenges to scheduling included lack of physician response to EHR messages and unsuccessful direct contact. Among those scheduled (n=78) 70.5% completed the appointment, with no difference between the three groups. Conclusion: B-RST™ can be used effectively in mammography settings to identify high-risk women for cancer genetics referral. Follow-up via EHR appears an acceptable and efficient approach, but additional strategies are needed to facilitate completion of the genetic counseling process.

Author(s):  
Roberto Farina ◽  
Anna Simonelli ◽  
Giovanni Franceschetti ◽  
Luigi Minenna ◽  
Gian Pietro Schincaglia ◽  
...  

Abstract Objectives The present study was performed to comparatively evaluate the peri-implant bone stability and conditions of marginal tissues at 3 years following transcrestal and lateral sinus floor elevation (tSFE and lSFE, respectively). Materials and methods Patients included in a parallel-arm randomized trial comparatively evaluating tSFE and lSFE were recalled at 3 years post-surgery. Twenty-one and 24 patients in tSFE and lSFE groups, respectively, participated in the follow-up visit. Peri-implant bone support was evaluated as the proportion of the entire implant surface in direct contact with the radiopaque area (totCON%) on 3-year periapical radiographs. The conditions of the marginal peri-implant tissues at 3-year visit were classified as peri-implant health, peri-implant mucositis, or peri-implantitis. Results At 3 years, both groups showed an implant survival rate of 100%. Median totCON% was stable at 3 years, being 100% in both groups (p = 0.124). Peri-implant health and mucositis were diagnosed in 10 (47.6%) and 11 (52.4%) patients, respectively, in the tSFE group, and in 8 (33.3%) and 16 (66.7%) subjects, respectively, in the lSFE group (p = 0.502). Conclusions At 3 years following surgery, implants placed concomitantly with tSFE and lSFE fully maintain peri-implant bone support. Peri-implant mucositis was the most prevalent condition, with a similar prevalence between groups. Clinical relevance. Based on 3-year data on peri-implant bone support and prevalence of peri-implant diseases, the study suggests that tSFE and lSFE represent two equally valid options for the rehabilitation of the posterior maxilla. ClinicalTrials.gov ID: NCT02415946.


2013 ◽  
Vol 31 (24) ◽  
pp. 3012-3018 ◽  
Author(s):  
Victoria M. Raymond ◽  
Jessica N. Everett ◽  
Larissa V. Furtado ◽  
Shanna L. Gustafson ◽  
Chelsy R. Jungbluth ◽  
...  

Purpose Adrenocortical carcinoma (ACC) is an endocrine malignancy with a poor prognosis. The association of adult-onset ACC with inherited cancer predisposition syndromes is poorly understood. Our study sought to define the prevalence of Lynch syndrome (LS) among patients with ACC. Patients and Methods One hundred fourteen patients with ACC were evaluated in a specialized endocrine oncology clinic and were prospectively offered genetic counseling and clinical genetics risk assessment (group 1). In addition, families with known mismatch repair (MMR) gene mutations that were recorded in the University of Michigan Cancer Genetics Registry were retrospectively reviewed for the presence of ACC (group 2). ACC tumors from patients with LS were tested for microsatellite instability and immunohistochemistry (IHC) to evaluate for MMR deficiency. Results Ninety-four (82.5%) of 114 patients with ACC underwent genetic counseling (group 1). Three individuals (3.2%) had family histories suggestive of LS. All three families were found to have MMR gene mutations. Retrospective review of an additional 135 MMR gene–positive probands identified two with ACC (group 2). Four ACC tumors were available (group 1, 3; group 2, 1). All four tumors were microsatellite stable; three had IHC staining patterns consistent with germline mutation status. Conclusion The prevalence of LS among patients with ACC is 3.2%, which is comparable to the prevalence of LS in colorectal and endometrial cancer. Patients with ACC and a personal or family history of LS tumors should be strongly considered for genetic risk assessment. IHC screening of all ACC tumors may be an effective strategy for identifying patients with LS.


Crisis ◽  
2010 ◽  
Vol 31 (2) ◽  
pp. 109-112 ◽  
Author(s):  
Hui Chen ◽  
Brian L. Mishara ◽  
Xiao Xian Liu

Background: In China, where follow-up with hospitalized attempters is generally lacking, there is a great need for inexpensive and effective means of maintaining contact and decreasing recidivism. Aims: Our objective was to test whether mobile telephone message contacts after discharge would be feasible and acceptable to suicide attempters in China. Methods: Fifteen participants were recruited from suicide attempters seen in the Emergency Department in Wuhan, China, to participate in a pilot study to receive mobile telephone messages after discharge. All participants have access to a mobile telephone, and there is no charge for the user to receive text messages. Results: Most participants (12) considered the text message contacts an acceptable and useful form of help and would like to continue to receive them for a longer period of time. Conclusions: This suggests that, as a low-cost and quick method of intervention in areas where more intensive follow-up is not practical or available, telephone messages contacts are accessible, feasible, and acceptable to suicide attempters. We hope that this will inspire future research on regular and long-term message interventions to prevent recidivism in suicide attempters.


2010 ◽  
Vol 113 (Special_Supplement) ◽  
pp. 9-20 ◽  
Author(s):  
Hung-Chuan Pan ◽  
Ming-Hsi Sun ◽  
Jason Sheehan ◽  
Meei-Ling Sheu ◽  
Clayton Chi-Chang Chen ◽  
...  

Object In the modern era, stereotactic radiosurgery is an important part of the multidisciplinary and multimodality approach used to treat dural carotid-cavernous fistulas (DCCFs). Based on the ease of performance of techniques to fuse cerebral angiography studies with MR images or CT scans during the radiosurgical procedure, the Gamma Knife and XKnife are 2 of the most popular radiosurgical instruments for patients with DCCF. In this study, the authors compared the efficacy, neurological results, and complications associated with these 2 radiosurgical devices when used for DCCF. Methods Records for 41 patients with DCCF (15 treated using the XKnife and 26 with Gamma Knife surgery [GKS]) were retrieved from a radiosurgical database encompassing the period of September 2000 to August 2008. Among these patients, at least 2 consecutive MR imaging or MR angiography studies obtained after radiosurgery were available for determining radiological outcome of the fistula. All patients received regular follow-up to evaluate the neurological and ophthalmological function at an interval of 1–3 months. The symptomatology, obliteration rate, radiation dose, instrument accuracy, and adverse effects were determined for each group and compared between 2 groups. The data were analyzed using the Student t-test. Results The mean age of the patients was 63 ± 2.6 years, and the mean follow-up period was 63.1 ± 4.4 months (mean ± SD). Thirty-seven patients (90%) achieved an obliteration of the DCCF (93% in the XKnife cohort and 88% for the GKS cohort). In 34 of 40 patients (85%) with chemosis and proptosis of the eyes, these symptoms were resolved after treatment (4 had residual fistula and 2 had arterializations of sclera). All 5 patients with high intraocular pressure demonstrated clinical improvement. Ten (71%) of 14 patients with cranial nerve palsy demonstrated improvement following radiosurgery. Significant discrepancies of treatment modalities existed between the XKnife and GKS groups, such as radiation volume, conformity index, number of isocenters, instrument accuracy, peripheral isodose line, and maximum dosage. The XKnife delivered significantly higher radiation dosage to the lens, optic nerve, optic chiasm, bilateral temporal lobe, and brainstem. Few adverse events occurred, but included 1 patient with optic neuritis (GKS group), 1 intracranial hemorrhage (XKnife group), 1 brainstem edema (XKnife), and 3 temporal lobe radiation edemas (XKnife). Conclusions Radiosurgery affords a substantial chance of radiological and clinical improvement in patients with DCCFs. The Gamma Knife and XKnife demonstrated similar efficacy in the obliteration of DCCFs. However, a slightly higher incidence of complications occurred in the XKnife group.


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