scholarly journals Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

2021 ◽  
Author(s):  
Ivy van Dijke ◽  
Phillis Lakeman ◽  
Naoual Sabiri ◽  
Hanna Rusticus ◽  
Cecile P. E. Ottenheim ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Center ◽  
Informed Choice ◽  
Carrier Screening ◽  
University Hospital ◽  
Structured Interviews ◽  
Expanded Carrier Screening ◽  
Post Test ◽  
Future Child ◽  
Clinically Significant

AbstractPreconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p < 0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.

Excessive Toxicity of Once Daily Intravenous Busulfan, Melphalan, and Thiotepa Followed by Autologous Stem Cell Transplantation On Patients with Non-Hodgkin's Lymphoma.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4361-4361
Author(s):  
Jong-Ho Won ◽  
Sang-Cheol Lee ◽  
Seok Jin Kim ◽  
Dae Ho Lee ◽  
Won Seog Kim ◽  
...  
Keyword(s):  
High Risk ◽  
Conflicts Of Interest ◽  
Medical Center ◽  
Conditioning Regimen ◽  
University Hospital ◽  
Aggressive Lymphoma ◽  
Comparable Efficacy ◽  
Klebsiella Pneumonia ◽  
Once Daily ◽  
Grade 3

Abstract Abstract 4361 The busulfan, melphalan, and thiotepa (BuMelTT) regimen has shown high activity in the treatment of patient with breast cancer, ovarian cancer, aggressive lymphoma, and relapsed Hodgkin's disease. Given the limited toxicity observed with intravenous busulfan and the known activity of BuMelTT regimen in NHL, we developed a protocol utilizing once-daily intravenous busulfan/melphalan/thiotepa (ivB-MT) regimen as a conditioning for HDT in the patients with high risk or relapsed NHL. Between March and December 2008, 13 patients with relapsed or primary refractory NHL but sensitive to salvage chemotherapy or chemo-sensitive high risk NHL underwent HDT with ivB-MT regimen followed by autologous SCT at the Soonchunhyang University Hospital, Asan Medical Center of Ulsan University, and Samsung Medical Center of Sungkyunkwan University, Seoul, Korea. The conditioning regimen consisted of busulfan 130mg/m2/day i.v. on day -8, -7, and -6, melphalan 50mg/m2/day i.v. on day -5 and -4, and thiotepa 250mg/m2/day i.v. on day -3 and -2. One patient did not recovered neutrophil and platelets and the disease relapsed on day 30 and another patient died on day 74 due to sepsis without recovery of platelets. The remaining patients achieved an ANC > 500/mm3 at a median of 10 days (range 9-30) and an unsupported platelet count of > 20,000/mm3 at a median 20 days (range 11-35) after infusion of peripheral blood stem cells(PBSC). Grade 3-4 regimen related toxicities (RRT) occurred in eight of 13 (61.5%) patients, mainly including mucositis, GI, and hepatic toxicity. Six patients (46%) developed hepatic VOD including one severe type and three patients documented infections (klebsiella pneumonia, streptococcal pneumonia, and sepsis due to MRSA and CMV bacteremia), one died of sepsis on post-transplant day 74. In all, one patient was not evaluable for response because of septic death. Four (80%) out of five patients with PR state before HDT achieved CR after HDT and one out of seven patients with CR state progressed during HDT, resulted 10 out of 12 patients achieved or maintained CR after HDT. During the follow up period (median 312 days, range 74-467), four patients were relapsed after CR and EFS were 60, 102, 104, and 203 days, respectively. In the current study, grade 3 to 4 mucositis and liver toxicity occurred in 65% and VOD developed in 46%. It is assumed that such toxicities may be relevant to regimen with triple alkylating drugs. Despite of comparable efficacy, ivB-MT regimen was too toxic to apply to the patients with NHL undergoing HDT and autologous SCT. Disclosures: No relevant conflicts of interest to declare.

scholarly journals MBCL-48. OUTCOMES OF TREATMENT BASED ON THE ST. JUDE MEDULLOBLASTOMA-96 REGIMEN FOR JAPANESE CHILDREN WITH MEDULLOBLASTOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii398-iii398
Author(s):  
Junya Fujimura ◽  
Tomonari Suzuki ◽  
Yuko Watanabe ◽  
Hidetaka Niizuma ◽  
Ryuta Saito ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Center ◽  
Therapeutic Option ◽  
Tumor Resection ◽  
University Hospital ◽  
High Dose ◽  
High Risk Patients ◽  
Pediatric Medulloblastoma ◽  
Risk Patients ◽  
Standard Risk

Abstract Medulloblastoma is a type of malignant embryonal tumor in childhood that is considered to require multiagent chemotherapy followed by radical resection and craniospinal irradiation (CSI). However, the outcomes of chemotherapy for this tumor in Japan are unclear. Here, we performed a multicenter retrospective study to determine the prognosis of pediatric medulloblastoma patients in Japan treated with the St. Jude medulloblastoma-96 (SJMB96) regimen. Thirty patients with newly diagnosed medulloblastoma received treatment with the SJMB96 regimen at Juntendo University Hospital in Tokyo (n=10), Saitama Medical University International Medical Center in Saitama (n=10), and Tohoku University Hospital in Miyagi (n=10) from 2011 to 2018. All patients underwent tumor resection and CSI, with radiation doses of 23.4Gy for standard-risk patients (n=11) and 39.6Gy for high-risk patients (n=19). Six weeks after radiation therapy, patients received four cycles of high-dose chemotherapy with autologous peripheral blood stem cell transplantation according to the SJMB96 regimen. We found that 5-year overall survival was 80.8% among standard-risk patients and 74.2% among high-risk patients. No treatment-related deaths occurred. Eight patients who experienced recurrence died within 80 months of diagnosis. As these treatment outcomes are comparable to those previously reported outside of Japan, our findings indicate that this regimen is a therapeutic option for medulloblastoma patients in Japan.

scholarly journals Non-invasive technologies in assisting high-risk parturient women: nurse-midwives’ perceptionss

Rev Rene ◽  
2021 ◽  
Vol 22 ◽  
pp. e61385
Author(s):  
Lana Priscila Meneses Ares ◽  
Juliana Amaral Prata ◽  
Jane Marcia Progianti ◽  
Adriana Lenho de Figueiredo Pereira ◽  
Ricardo José Oliveira Mouta ◽  
...  
Keyword(s):  
High Risk ◽  
Collaborative Work ◽  
Maternity Hospital ◽  
University Hospital ◽  
Limiting Factors ◽  
Structured Interviews ◽  
Hospital Data ◽  
Non Invasive ◽  
Female Autonomy ◽  
Nurse Midwives

Objective: to know nurse-midwives’ perceptions about factors related with the use of non-invasive care technologies in the care of high-risk parturient women. Methods: qualitative study, with 10 nurse-midwives from the obstetric center of a high-risk maternity hospital in a university hospital. Data were collected by semi-structured interviews and subjected to content analysis. Results: prenatal care with a focus on female autonomy, the availability of specific materials and the sector’s infrastructure are facilitating factors. Work overload, the devaluation of nurse-midwives’ knowledge by some medical professionals and the lack of institutional support for teamwork are limiting factors. Conclusion: the factors referred to show the need to boost collaborative work in assisting high obstetric risk, encourage the use of non-invasive care technologies and improve nurses’ working conditions.

scholarly journals Understanding low chemoprevention uptake by women at high risk of breast cancer: findings from a qualitative inductive study of women’s risk-reduction experiences

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tasleem J. Padamsee ◽  
Megan Hils ◽  
Anna Muraveva
Keyword(s):  
Breast Cancer ◽  
African American ◽  
High Risk ◽  
Risk Reduction ◽  
White Women ◽  
Future Research ◽  
Structured Interviews ◽  
Critical Gap ◽  
High Risk Women ◽  
Parent Project

Abstract Background Chemoprevention is one of several methods that have been developed to help high-risk women reduce their risk of breast cancer. Reasons for the low uptake of chemoprevention are poorly understood. This paper seeks a deeper understanding of this phenomenon by drawing on women’s own narratives about their awareness of chemoprevention and their risk-related experiences. Methods This research is based on a parent project that included fifty in-depth, semi-structured interviews with a purposive sample of African American and White women at elevated risk of breast cancer. This specific study draws on the forty-seven interviews conducted with women at high or severe risk of breast cancer, all of whom are eligible to use chemoprevention for breast cancer risk-reduction. Interviews were analyzed using grounded theory methods. Results Forty-five percent of participants, and only 21% of African American participants, were aware of chemoprevention options. Women who had seen specialists were more likely to be aware, particularly if they had ongoing specialist access. Aware and unaware women relied on different types of sources for prevention-related information. Those whose main source of information was a healthcare provider were more likely to know about chemoprevention. Aware women used more nuanced information gathering strategies and worried more about cancer. Women simultaneously considered all risk-reduction options they knew about. Those who knew about chemoprevention but were reluctant to use it felt this way for multiple reasons, having to do with potential side effects, perceived extreme-ness of the intervention, similarity to chemotherapy, unknown information about chemoprevention, and reluctance to take medications in general. Conclusions Lack of chemoprevention awareness is a critical gap in women’s ability to make health-protective choices. Future research in this field must consider complexities in both women’s perspectives on chemoprevention and the reasons they are reluctant to use it.

scholarly journals Patient Clothing as a Healing Environment: A Qualitative Interview Study

2021 ◽  
Vol 18 (10) ◽  
pp. 5357
Author(s):  
Seon-Ju Kam ◽  
Young-Sun Yoo
Keyword(s):  
Emotional Response ◽  
Positive Emotions ◽  
Design Method ◽  
Medical Center ◽  
Emotional Responses ◽  
University Hospital ◽  
Hospital Environment ◽  
University Hospitals ◽  
Pattern Design ◽  
Qualitative Interview Study

Patients’ emotional responses to the hospital environment can be considered as important as medical technology and equipment. Therefore, this study investigated their experiences to determine whether the pattern using hospital identity (HI) elements, a widely used design method for patient clothing in university hospitals, can affect their emotional response and contribute to healing. It aimed to identify whether controlling the motif characteristics, arrangement, and spacing in this pattern design, and the direction between motifs, could be a method to design patient clothing for healing. To investigate patients’ emotional response and suggestions for patient clothing design, an interview-based qualitative approach was used. In-depth interviews were conducted with 12 patients discharged from Kyung Hee University Hospital Medical Center (KHUMC), Seoul. The interview questions consisted of two parts. One part featured questions about participants’ emotional responses to the medical environment and their latest patient clothing experience, and the other featured questions about their emotional response to, and suggestions for, the healing expression of pattern design using HI. The results confirmed that the motif characteristics, arrangement, and spacing, and the direction between motifs, influenced patients’ positive emotions and contributed to the healing effect. Therefore, when the HI elements of a medical institution are applied in the design of patient clothing with the characteristics of a healing design, patients perceive this as providing stability and comfort. The design of patient clothing becomes a medium that not only builds the brand image of medical institutions, but also enhances the quality of medical services centered on patient healing.

scholarly journals Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 370
Author(s):  
Joohyun Hong ◽  
Jiyun Lee ◽  
Minsuk Kwon ◽  
Ji-Yeon Kim ◽  
Jong-Won Kim ◽  
...  
Keyword(s):  
Genetic Testing ◽  
High Risk ◽  
Salt Lake ◽  
Medical Center ◽  
Brca Mutation ◽  
Genetic Diagnosis ◽  
Metastatic Breast ◽  
Breast Cancer Patients ◽  
Brca 1 ◽  
Local Laboratory

Genetic diagnosis for human epidermal growth factor receptor 2-negative metastatic breast cancer patients with the germline BRCA (gBRCA) mutation has been emphasized since the development of polyadenosine diphosphate-ribose polymerase inhibitors. Myriad Genetics, Inc.’s (Salt Lake City, UT, USA) companion diagnostics service is almost exclusively used for genetic testing. The aim of this study was to compare the results of germline BRCA mutation tests returned by a local laboratory and those performed by Myriad. Between April 2014 and February 2018, 31 patients with gBRCA 1/2 mutation test results from both Samsung Medical Center (Seoul, Korea) and Myriad were enrolled. “Discordant: Opposite classification” was observed for only one among 27 (3.7%). This discrepancy was due to the detection of a deleterious large genomic rearrangement of BRCA 1 by Myriad. Samsung Medical Center performed multiple ligation-dependent probe amplifications (MLPA) to detect large genomic rearrangements only in high-risk patients. This one case was not suspected as high risk and MLPA was not performed. The concordant rate was 74.1% for all 27 patients. “Discordant: Laboratory’s uncertain classification” was found in 22.2% of the sample (six patients). All discrepancies were generated during interpretation of BRCA 2 gene sequencing. Further studies and standardization of genetic testing for BRCA 1/2 genes are required.

scholarly journals Preoperative Group Consultation Prior to Surgery for Colorectal Cancer—an Explorative Study of a New Patient Education Method

2021 ◽  
Author(s):  
Sofie Walming ◽  
Eva Angenete ◽  
David Bock ◽  
Mattias Block ◽  
Hanna de la Croix ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Patient Education ◽  
Response Rate ◽  
University Hospital ◽  
Sense Of Control ◽  
Structured Interviews ◽  
Group Setting ◽  
Disease Treatment ◽  
Explorative Study ◽  
Group Consultation

Abstract Patients with colorectal cancer may lack information about the disease and treatment. In 2017, a group consultation before start of surgery was introduced at a university hospital in western Sweden to inform about the disease, treatment, and ongoing scientific studies. The primary aim of this study was to explore the experience of the patients attending the group consultation. Based on semi-structured interviews with patients with colorectal cancer, a questionnaire was constructed and administered to patients, both those attending and those not attending the group consultation. In total, 124 patients were included and the response rate was 86%. A majority of patients attending the group consultation would recommend it to someone else with the same illness. Of the patients attending the group consultation, 81% (30/37) patients agreed, fully or partially, that attending the group consultation had increased their sense of control and 89% (33/37) that the information they received at the group consultation increased their feeling of participation in the treatment. Preoperative group consultation is a feasible modality for informing and discussing the upcoming treatment for colorectal cancer with the patients, and the patients who attended the group setting appreciated it. Attending the group consultation increased the patients’ feeling of active participation in their treatment and their sense of control, which could possibly both improve their experience of their illness and facilitate recovery. ClinicalTrials.gov identifier NCT03888313

scholarly journals Multidisciplinary Unit Improves Pregnancy Outcomes in Women with Rheumatic Diseases and Hereditary Thrombophilias: An Observational Study

2021 ◽  
Vol 10 (7) ◽  
pp. 1487
Author(s):  
Isabel Añón-Oñate ◽  
Rafael Cáliz-Cáliz ◽  
Carmen Rosa-Garrido ◽  
María José Pérez-Galán ◽  
Susana Quirosa-Flores ◽  
...  
Keyword(s):  
High Risk ◽  
Observational Study ◽  
Medical Care ◽  
Pregnant Women ◽  
Rheumatic Diseases ◽  
Absolute Risk ◽  
University Hospital ◽  
Obstetric Outcomes ◽  
Number Needed To Treat ◽  
Foetal Death

Rheumatic diseases (RD) and hereditary thrombophilias (HT) can be associated with high-risk pregnancies. This study describes obstetric outcomes after receiving medical care at a multidisciplinary consultation (MC) and compares adverse neonatal outcomes (ANOs) before and after medical care at an MC. This study is a retrospective observational study among pregnant women with RD and HT treated at an MC of a university hospital (southern Spain) from 2012 to 2018. Absolute risk reduction (ARR) and number needed to treat (NNT) were calculated. A total of 198 pregnancies were registered in 143 women (112 with RD, 31 with HT), with 191 (96.5%) pregnancies without ANOs and seven (3.5%) pregnancies with some ANOs (five miscarriages and two foetal deaths). Results previous to the MC showed 60.8% of women had more than one miscarriage, with 4.2% experiencing foetal death. MC reduced the ANO rate by AAR = 60.1% (95%CI: 51.6−68.7%). The NNT to avoid one miscarriage was 1.74 (95%CI: 1.5–2.1) and to avoid one foetal death NNT = 35.75 (95CI%: 15.2–90.9). A total of 84.8% of newborns and 93.2% of women did not experience any complication. As a conclusion, the follow-up of RD or HT pregnant women in the MC drastically reduced the risk of ANOs in this population with a previous high risk.

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