Cement Pulmonary Embolism Due to Percutaneous Vertebroplasty.

BACKGROUND: Bone cement is an uncommon cause of foreign-body pulmonary embolism. CASE PRESENTATION: A 65-year-old woman with wheeze presented with multiple linear opacities with bone density on chest x-ray. She reported percutaneous vertebroplasty 4 months prior. Non-- contrast chest computerized tomography showed peripheral cement emboli in the pulmonary arteries. The patient received conservative treatment. CONCLUSION: Clinicians should be aware of this potential complication following vertebroplasty. It is necessary to perform a chest x-ray after the procedure.

Prevalence of obstructive sleep apnea in female patients with fibromyalgia.

OBJECTIVES: To determine the prevalence of obstructive sleep apnea in female patients with fibromyalgia (FM)presenting to physical therapy outpatient clinics. METHODS: The 36-item short form health survey (SF-36) questionnaire, Berlin test, and epworth sleepiness scale were administered, along with a polysomnography to 38 female patients. This cross-sectional study comprised diagnosed with FM according to the diagnostic criteria of the American College of Rheumatology, between March 2017 and August 2019, at the Faculty of Medicine Hospital, Çanakkale Onsekiz Mart University, Çanakkale, Turkey. RESULTS: Of the participants, 65.9% were found to have obstructive sleep apnea (OSA). Patients with OSA were older and had a higher disease activity score for FM. A strong positive correlation was identified between the apnea-hypopnea index (AHI) and the FA disease activity score. A negative correlation was found between AHI and the subscales of SF-36. CONCLUSION: A clinical assessment of female patients with FM requires a multidisciplinary approach, and patients with excessive daytime sleepiness in particular are recommended to undergo polysomnography. The authors believe that the early detection and treatment of accompanying OSA will contribute not only to the quality of life, but also to the survival of patients with FM.

Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

BACKGROUND: Considering the typical rapid progression and high mortality of pancreatic cancer (PC), early detection may lead to an improved outcome. To date, there is no safe, sensitive, and cost-effective screening strategy to detect PC. Currently, screening is focused on individuals at the highest risk of developing PC based on family history. A high-risk individual is defined as having two or more first-degree relatives with PC, or one first- or second-degree relative with PC with a confirmed mutation in a gene associated with PC. The BRCA2 gene is one of the most common genes linked to pancreatic-only cancer families; however, other hereditary cancer syndromes have also been associated with an increased risk for PC. METHODS: We conducted a retrospective review of pedigrees of families with a pancreatic adenocarcinoma cancer diagnosis held in the statewide Ruth Ann Minner High Risk Family Cancer Registry at the Helen F. Graham Cancer Center and Research Institute, Christiana Care Health System, Newark, DE, USA, from 2002 to 2013. The registry was queried based on how many first-, second-, or third-degree relatives of the proband were affected with PC, genetic testing status, and (if applicable) the results. These data were then categorized into families that meet familial PC (FPC) criteria, defined as two first-degree relatives with PC (FPC families), families that did not meet the FPC definition but had one first-degree relative affected with PC (first-degree families), and probands with PC (probands). Each family was counted only once in the analysis, even if multiple family members were tested. RESULTS: Our analysis revealed that 175 of 597 families fitting any of the above criteria completed genetic testing. Of this cohort, 52 had pathogenic alterations with nine different genes implicated. Overall, 164 of the 175 families that fitted into any of the three categories previously identified had BRCA1 or BRCA2 testing, either by DNA sequencing or next-generation sequencing via a panel test that included BRCA1/2. BRCA1 pathogenic alterations were noted in 17/164 (10.4 %) and BRCA2 pathogenic alterations were noted in 23/164 (14.0 %). FPC families (n = 46) 42/46 of the FPC families underwent BRCA1/2 testing, and 11/42 (26 % [95 % CI 12.89-39.49]) had pathogenic alterations. Specifically, 4/42 = BRCA1 (9.5 %) and 7/42 = BRCA2 (16.7 %). Additionally, 16/46 of the FPC families underwent exclusively Lynch syndrome (LS) testing, and pathogenic mutations in a mismatch repair protein were identified in 2/16. Specifically, 1/16 = MLH1 (6.3 %) and 1/16 = MSH2 (3.6 %). Overall, a genetic mutation within any gene associated with an increased PC risk was found in 28 % of FPC families. First-degree families (n = 106) 99/106 of the families with one first-degree relative underwent BRCA1/2 testing, and 21/99 (21.2 % [95 % CI 13.16-29.27]) had pathogenic alterations. Specifically, 11/99 = BRCA1 (11.1 %) and 10/99 = BRCA2 (10.1 %). 32/99 first-degree families underwent exclusively LS testing, and pathogenic mutations were identified in 4/32. Specifically, 3/32 = MLH1 (9 %) and 1/32 = MSH6 (3 %). 25/99 of the families pursued panel testing, and pathogenic alterations in any gene were identified in 3/25. Specifically, the mutations were found in 1/25 = ATM (4 %), 1/25 = CHEK2 (4 %), and 1/25 = RAD51D (4 %). Affected probands (n = 23) Lastly, all 23 probands affected with PC pursued genetic testing. Of these, 11/23 were found to have pathogenic alterations. All 23 underwent BRCA1/2 testing, and pathogenic alterations were identified in 8/23 (35 % [95 % CI 15.32-54.25]), specifically 2/23 = BRCA1 (9 %), and 6/23 = BRCA2 (26 %). 10/23 patients underwent panel testing and pathogenic alterations were found in 3/10 (30 %) patients, of whom 1/10 = MSH6 (10 %), 1/10 = ATM (10 %), and 1/10 = TP53 (10 %). CONCLUSIONS: This study demonstrates that a statewide high-risk family cancer registry is an important instrument in studying the risk of PC in families. Our analysis revealed 14 mutations associated with FPC, among which hereditary breast and ovarian cancer and LS were most prevalent. BRCA1 was found to have the same association with PC as BRCA2, which appears unique to our population. We plan to use our knowledge of these mutations in developing a PC screening program.

Certified Genetic Counselors: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Cancer Syndromes.

The role of the cancer genetic counselor in the management of patients with cancer is discussed in this article. This includes explaining what a genetic counselor is trained to do and how they are credentialed and licensed. In addition, the article explains who to refer for cancer genetic counseling. Once referred, the article describes what actually happens in a pretest and posttest cancer genetic counseling session. Use of a cancer genetic registry and how it can help in practice is discussed. Finally, several mechanisms for identifying a cancer genetic counselor at one's institution or nearby are outlined.

A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.

Variants of unknown significance (VUS) complicate the assignment of risk to new DNA sequence variants found in at-risk populations. This study focused on the poorly studied linker region of the cancer-associated BRCA2 protein encoded by exons twelve through fourteen of BRCA2. To develop a new method to characterize VUS in this region of BRCA2, we first chose to study 4 reported VUS occurring on evolutionarily conserved residues within the linker region. To determine if these VUS represent neutral changes or if they impact the function of the BRCA2 protein, we stably transfected expression plasmids encoding wild-type or each mutant peptide into T47D breast cancer cells, which are wild-type for BRCA2. Four mutant peptide expressing cell lines and a wild-type linker region expressing cell line next were studied by challenging transfected cell lines with the DNA crosslinking compound cisplatin (10µM) for 5days. Expression of the wild-type linker region and certain mutant linker peptides (N2452D and I2285V) decreased apoptosis (as demonstrated by cell death detection assay) in transfected cell lines, indicating that the linker region peptide directly or indirectly affects the DNA damage repair pathway. By determining the cell survival and assaying the apoptotic index of treated cell lines, one could potentially use this screen to determine that a particular VUS has a functional impact on BRCA2 function, and hence is of functional significance. We conclude that this method is useful for screening the effect of linker region VUS on BRCA2 function, and to identify mutations for further testing. We also conclude that mutations in the linker region may have heretofore unappreciated roles in BRCA2 function.

Using adult learning theory concepts to address barriers to cancer genetic risk assessment in the African American community.

Utilization of cancer genetic risk assessment can be profoundly influenced by an individuals' knowledge of risk assessment, attitudes regarding illness and healthcare, and affective reactions derived from social norms. Race and ethnicity play a powerful role in the development of an individual's attitudes and should be considered when attempting to understand a person's openness to cancer genetic risk assessment (Lannin et al., 1998). Until recently, however, cancer screening and prevention programs have been primarily based on data from studies conducted with the Caucasian population, yielding data that are not fully applicable to the African American community. In the last several years, research findings regarding African American's knowledge, attitudes, and feelings about genetic counseling and testing have grown (Matthews et al., 2000; Singer et al., 2004; Thompson et al., 2003). However, to the authors' knowledge, these data have yet to be presented in a manner that both summarizes the barriers that African Americans have reported regarding cancer genetic risk assessment, while at the same time suggesting methods individual genetic counselors can utilize during community presentations to help address these barriers. This article will first summarize previous empirical findings regarding African Americans' knowledge, attitudes, and feelings about cancer genetic risk assessment. The article will then apply adult learning theory to those findings to provide genetic counselors with practical, theory based techniques to apply toward community based educational programs with African American groups.

Cancer risk assessment and genetics at the Helen F. Graham Cancer Center: model for personalized medicine and early intervention.

This article discusses cancer risk assessment, screening options, referral guidelines, and the experience of the Familial Risk Assessment Program at the Helen F. Graham Cancer Center. Two clinical situations are described that illustrate the impact of genetics in the multidisciplinary approach to managing cancer. Identifying risk level in patients will impact mortality in those at high risk, as well as psychosocial well-being in those at low risk.

African Americans' knowledge of cancer genetic counseling: an examination of information delivery.

Two groups totaling 44 African Americans from two community churches were examined to determine the impact of two presentations on the uptake of genetic counseling educational material. Both presentations were developed with adult learning theory principles and offered information about cancer genetic risk assessment. The second presentation was enhanced to include a description, with pictures, of a culturally relevant fictitious family's course through risk assessment. Hypotheses were: a) knowledge would increase for each group and b) culturally relevant pictures and a family description would increase satisfaction with the presentation. A pre- and post-assessment was conducted with pre-assessment including demographic information and a knowledge questionnaire. Post-assessment included the knowledge questionnaire and a presentation satisfaction questionnaire. Independent t tests were used to analyze the gain scores between pre- and post-knowledge questionnaires and the satisfaction scores between groups. These results are discussed in terms of decreasing disparities in African Americans' participation in risk assessment through community outreach educational programs.