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Megan E Branda,1,2 Marleen Kunneman,1,3 Alejandra I Meza-Contreras,1,4 Nilay D Shah,5 Erik P Hess,6 Annie LeBlanc,7 Jane A Linderbaum,4 Danika M Nelson,4 Margaret R Mc Donah,8 Carrie Sanvick,9 Holly K Van Houten,10 Megan Coylewright,11 Sara R Dick,12 Henry H Ting,5 Victor M Montori1 1Knowledge and Evaluation Research Unit, Department of Medicine, Mayo Clinic, Rochester, MN, USA; 2Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA; 3Medical Decision Making, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, Netherlands; 4Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA; 5Delta Air Lines, Atlanta, GA, USA; 6Department of Emergency Medicine, Vanderbilt University Medical Center, Nashville, TN, USA; 7Faculty of Medicine, Laval University, Quebec City, Quebec, Canada; 8Mayo Clinic Health System, Mayo Clinic, Rochester, MN, USA; 9Department of Nursing, Mayo Clinic, Rochester, MN, USA; 10Robert D and Patricia E Kern Center for the Science of Healthcare Delivery, Mayo Clinic, Rochester, MN, USA; 11Section of Cardiovascular Medicine, Erlanger Heart and Lung Institute, Chattanooga, TN, USA; 12Education Project Management Office, Mayo Clinic, Rochester, MN, USACorrespondence: Victor M Montori, 200 First Street SW, Rochester, MN, 55905, USA, Tel +1 507-284-2511, Email Montori.victor@mayo.eduObjective: Adherence to guideline-recommended medications after acute myocardial infarction (AMI) is suboptimal. Patient fidelity to treatment regimens may be related to their knowledge of the risk of death following AMI, the pros and cons of medications, and to their involvement in treatment decisions. Shared decision-making may improve both patients’ knowledge and involvement in treatment decisions.Methods: In a pilot trial, patients hospitalized with AMI were randomized to the use of the AMI Choice conversation tool or to usual care. AMI Choice includes a pictogram of the patient’s estimated risk of mortality at 6 months with and without guideline-recommended medications, ie, aspirin, statins, beta-blockers, and angiotensin-converting enzyme inhibitors. Primary outcomes were patient knowledge and conflict with the decision made assessed via post-encounter surveys. Secondary outcomes were patient involvement in the decision-making process (observer-based OPTION12 scale) and 6-month medication adherence.Results: Patient knowledge of the expected survival benefit from taking medications was significantly higher (62% vs 16%, p< 0.0001) in the AMI Choice group (n = 53) compared to the usual care group (n = 53). Both groups reported similarly low levels of conflict with the decision to start the medications (13 (SD 24.2) vs 16 (SD 22) out of 100; p=0.16). The extent to which clinicians in the AMI Choice group involved their patients in the decision-making process was high (OPTION12 score 53 out of 100, SD 12). Medication adherence at 6-months was relatively high in both groups and not different between groups.Conclusion: The AMI Choice conversation tool improved patients’ knowledge of their estimated risk of short-term mortality after an AMI and the pros and cons of treatments to reduce this risk. The effect on patient fidelity to recommended medications of using this SDM tool and of SDM in general should be tested in larger trials enrolling patients at high risk for nonadherence.Trial Registration Number: NCT00888537.Keywords: shared decision making, acute myocardial infarction, adherence, randomized trial

Nidhi D Shah,1 Parth S Shah,2 Yash Y Panchal,3 Kalpesh H Katudia,3 Nikunj B Khatri,3 Hari Shankar P Ray,3 Upti R Bhatiya,3 Sandip C Shah,3 Bhavini S Shah,1 Mandava V Rao4 1Department of Pediatrics, Nassau University Medical Center, New York City, NY, USA; 2Department of Medicine, Lahey Hospital and Medical Center, Boston, MA, USA; 3Supratech Micropath Laboratory and Research Institute, Ahmedabad, Gujarat, India; 4School of Sciences, Gujarat University, Ahmedabad, Gujarat, India Background: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown.Purpose: In this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types. Materials and methods: The purified extracted DNA of each referral patient was subjected to Sanger gene sequencing using Codon Code Analyzer and Mutation Surveyor and next-generation sequencing (NGS) methods with Ion torrent software, after appropriate care. Results: The data revealed that 35 cases were positive for BRCA1 or BRCA2 (35/79: 44.3%). BRCA2 mutations were higher (52.4%) than BRCA1 mutations (47.6%). Five novel mutations detected in this study were p.pro163 frameshift, p.asn997 frameshift, p.ser148 frameshift and two splice site single-nucleotide polymorphisms (SNPs). Additionally, four nonsense and one in-frame deletion were identified, which all seemed to be pathogenic. Polymorphic SNPs contributed the highest percentage of mutations (72/82: 87.8%) and contributed to pathogenic, likely pathogenic, likely benign, benign and variant of unknown significance (VUS). Young age groups (20–60 years) had a high frequency of germline mutations (62/82;75.6%) in the Indian population. Conclusion: This study suggested that polymorphic SNPs contributed a high percentage of mutations along with five novel types. Younger age groups are prone to having BC with a higher mutational rate. Furthermore, the SNPs detected in exons 10, 11 and 16 of BRCA1 and BRCA2 were higher than those in other exons 2, 3 and 9 polymorphic sites in two germline genes. These may be contributory for BC although missense types are known to be susceptible for cancer depending on the type of amino acid replaced in the protein and associated with pathologic events. Accordingly, appropriate counseling and treatment may be suggested. Keywords: breast cancer, BRCA1 and BRCA2 gene mutations, polymorphic SNPs, novel types, age, NGS, Sanger gene sequencer

Parth S Shah,1 Nidhi D Shah,2 Hari Shankar P Ray,3 Nikunj B Khatri,3 Ketan K Vaghasia,3 Rutvik J Raval,4 Sandip C Shah,3 Mandava V Rao5 1Department of Medicine, Lahey Hospital and Medical Center, Boston, MA, 2Department of Pediatrics, Nassau University Medical Centre, New York, NY, USA; 3Supratech Micropath Laboratory and Research Institute, 4Department of Zoology, 5School of Sciences, Gujarat University, Ahmedabad, Gujarat, India Background: β-Thalassemia is the most prevalent genetic disorder in India. Its traits and coinheritance vary from mild to severe conditions, resulting in thalassemia minor, intermediate, and major, depending upon many factors.Purpose: The objective of this study was to identify the incidence of β-thalassemia traits, their coinheritance, and mutations, as well as to support the patients already diagnosed with β-thalassemia in East-Western Indian population for better management.Patients and methods: Seventy-five referral cases for β-thalassemia were analyzed for various β-thalassemia traits, heterozygosity, and homozygosity conditions. Blood phenotypic parameters using cell counter and capillary electrophoresis were investigated. Analyses of eight common mutations of thalassemia in India were carried out using polymerase chain reaction-amplification refractory mutation system, end point polymerase chain reaction, and DNA sequencing methods.Results: Of these (75) referral cases from East-Western Indian region, 68 were positive for β-thalassemia (90.67%). The majority of case types were of β-thalassemia minor (49, 65.33%), followed by HbE traits (6, 8.0%) and β-thalassemia major, including heterozygous and homozygous (5, 6.66%; 4, 5.33%) types and then HbE homozygous (2, 2.66%), as well as one each of the HbE/β-thalassemia and HbD/β-thalassemia (1, 1.34%) combination. Mutation analysis also revealed that the highest frequency of mutation was c.92+5G>C (41, 60.29%) followed by deletion 619bp (9, 13.23%) and c.79G>A (8, 11.76%) in our study group. Five cases (nos. 24, 27, 33, 58, and 71) exhibited coinheritance between β0/β+ (2), β0/β D (1), and c.124_127delTTCT/β+ or β0 (2) affecting the Rajasthani and Gujarati populations in our study of the Western region of India.Conclusion: We strongly recommend these Western populations for genetic screening before adopting reproductive technologies and interracial marital relations. Keywords: β-thalassemia traits, coinheritance, hematogram, capillary electrophoresis, PCR-ARMS, DNA sequencing, mutation analysis, East-Western India

Paul Y Takahashi,1 Lindsey R Haas,2 Stephanie M Quigg,1 Ivana T Croghan,1 James M Naessens,2 Nilay D Shah,2 Gregory J Hanson11Division of Primary Care Internal Medicine, Department of Medicine, 2Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USAPurpose: Patients leaving the hospital are at increased risk of functional decline and hospital readmission. The Employee and Community Health service at Mayo Clinic in Rochester developed a care transition program (CTP) to provide home-based care services for medically complex patients. The study objective was to determine the relationship between CTP use, 30-day hospital readmission, and Emergency Room (ER) visits for adults over 60 years with high Elder Risk Assessment scores.Patients and methods: This was a pilot prospective cohort study that included 20 patients that used the CTP and 20 patients discharged from the hospital without using the CTP. The medically complex study patients were drawn from the department of Employee and Community Health population between October 14, 2011 and September 27, 2012. The primary outcomes were 30-day hospital readmission or ER visit after discharge from the hospital. The secondary outcomes were within-group changes in grip strength, gait speed, and quality of life (QOL). Patients underwent two study visits, one at baseline and one at 30 days postbaseline. The primary analysis included time-to-event from baseline to rehospitalization or ER visit. Paired t-tests were used for secondary outcomes, with continuous scores.Results: Of the 40 patients enrolled, 36 completed all study visits. The 30-day hospital readmission rates for usual care patients were 10.5% compared with no readmissions for CTP patients. There were 31.6% ER visits in the UC group and 11.8% in the CTP group (P = 0.37). The secondary analysis showed some improvement in physical QOL scores (pre: 32.7; post: 39.4) for the CTP participants (P < 0.01) and no differences in gait speed or grip strength.Conclusion: Based on this pilot study of care transition, we found nonsignificant lower hospital and ER utilization rates and improved physical QOL scores for patients in the CTP group. However, the data leads us to recommend future studies with larger sample sizes (N = 250).Keywords: case management, cohort study, frailty, geriatrics

Paul Y Takahashi,1 Gregory J Hanson,1,2 Bjorg Thorsteinsdottir,1 Holly K Van Houten,3 Nilay D Shah,3 James M Naessens,3 Jennifer L Pecina41Division of Primary Care Internal Medicine, 2Kogod Center of Aging, 3Division of Health Science Research, 4Department of Family Medicine, Mayo Clinic, Rochester, MN, USABackground: Using telemedicine for older adults with multiple comorbid conditions is a potential area for growth in health care. Given this older, ailing population, providers should discuss end-of-life care with patients.Objective: To determine the relationship between telemonitoring and hospice enrollment compared to usual care among older adults with chronic health problems.Methods: This was a secondary evaluation of a randomized controlled trial. The trial was performed at an academic medical center. Patients who were over the age of 60 and had a high risk of hospitalization and emergency department visits were recruited to the study. The primary outcome was hospice enrollment, and the secondary outcome was the mean number of days in hospice. The data were analyzed using Chi-squared tests and time-to-event analysis.Results: The average age of the cohort was 80.3 years. Nine patients (9.6%) in the telemonitoring group were enrolled in hospice care, whereas four patients (4.0%) in the usual care group were enrolled (P = 0.12). The mean number of days in hospice was 57.9 (SD ± 99.2) for the telemonitoring group, and 119.3 (SD ± 123.8) for the usual care group (P = 0.36). There was no significant difference regarding time to hospice referral.Conclusion: In this pilot analysis, there were no differences noted between groups in the number of patients that entered into hospice or the amount of time they stayed in hospice care. This was a small trial, and the power to detect a difference was 36%. It was encouraging that twice the number of patients enrolled in hospice care in the telemonitoring group compared to usual care despite the insignificant finding. Further research may determine the effect of telemonitoring upon hospice referral.Keywords: hospice, elderly, telemonitoring, palliative care