scholarly journals Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up

2016 ◽  
Vol 34 (24) ◽  
pp. 2914-2924 ◽  
Author(s):  
Anita Y. Kinney ◽  
Laurie E. Steffen ◽  
Barbara H. Brumbach ◽  
Wendy Kohlmann ◽  
Ruofei Du ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Decision Making ◽  
Genetic Counseling ◽  
Upper Bound ◽  
Clinical Care ◽  
Personal Control ◽  
Telephone Counseling ◽  
Increased Risk

Purpose The ongoing integration of cancer genomic testing into routine clinical care has led to increased demand for cancer genetic services. To meet this demand, there is an urgent need to enhance the accessibility and reach of such services, while ensuring comparable care delivery outcomes. This randomized trial compared 1-year outcomes for telephone genetic counseling with in-person counseling among women at risk of hereditary breast and/or ovarian cancer living in geographically diverse areas. Patients and Methods Using population-based sampling, women at increased risk of hereditary breast and/or ovarian cancer were randomly assigned to in-person (n = 495) or telephone genetic counseling (n = 493). One-sided 97.5% CIs were used to estimate the noninferiority effects of telephone counseling on 1-year psychosocial, decision-making, and quality-of-life outcomes. Differences in test-uptake proportions for determining equivalency of a 10% prespecified margin were evaluated by 95% CIs. Results At the 1-year follow-up, telephone counseling was noninferior to in-person counseling for all psychosocial and informed decision-making outcomes: anxiety (difference [d], 0.08; upper bound 97.5% CI, 0.45), cancer-specific distress (d, 0.66; upper bound 97.5% CI, 2.28), perceived personal control (d, −0.01; lower bound 97.5% CI, −0.06), and decisional conflict (d, −0.12; upper bound 97.5% CI, 2.03). Test uptake was lower for telephone counseling (27.9%) than in-person counseling (37.3%), with the difference of 9.4% (95% CI, 2.2% to 16.8%). Uptake was appreciably higher for rural compared with urban dwellers in both counseling arms. Conclusion Although telephone counseling led to lower testing uptake, our findings suggest that telephone counseling can be effectively used to increase reach and access without long-term adverse psychosocial consequences. Further work is needed to determine long-term adherence to risk management guidelines and effective strategies to boost utilization of primary and secondary preventive strategies.

scholarly journals Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Mary K. Interrante ◽  
Hannah Segal ◽  
Beth N. Peshkin ◽  
Heiddis B. Valdimarsdottir ◽  
Rachel Nusbaum ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Lower Bound ◽  
Upper Bound ◽  
Telephone Counseling ◽  
Noninferiority Trial ◽  
Patient Reported ◽  
Risk Reducing

Abstract Background Telephone delivery of genetic counseling is an alternative to in-person genetic counseling because it may extend the reach of genetic counseling. Previous reports have established the noninferiority of telephone counseling on short-term psychosocial and decision-making outcomes. Here we examine the long-term impact of telephone counseling (TC) vs in-person counseling (usual care [UC]). Methods We recruited high-risk women for a noninferiority trial comparing TC with UC. Of 1057 potentially eligible women, 669 were randomly assigned to TC (n = 335) or UC (n = 334), and 512 completed the 12-month follow-up. Primary outcomes were patient-reported satisfaction with genetic testing decision, distress, and quality of life. Secondary outcomes were uptake of cancer risk management strategies. Results TC was noninferior to UC on all primary outcomes. Satisfaction with decision (d = 0.13, lower bound of 97.5% confidence interval [CI] = –0.34) did not cross its one-point noninferiority limit, cancer-specific distress (d = –2.10, upper bound of 97.5% CI = –0.07) did not cross its four-point noninferiority limit, and genetic testing distress (d = –0.27, upper bound of 97.5% CI = 1.46), physical function (d = 0.44, lower bound of 97.5% CI = –0.91) and mental function (d = –0.04, lower bound of 97.5% CI = –1.44) did not cross their 2.5-point noninferiority limit. Bivariate analyses showed no differences in risk-reducing mastectomy or oophorectomy across groups; however, when combined, TC had significantly more risk-reducing surgeries than UC (17.8% vs 10.5%; χ2= 4.43, P = .04). Conclusions Findings support telephone delivery of genetic counseling to extend the accessibility of this service without long-term adverse outcomes.

scholarly journals Respiratory follow-up of patients with COVID-19 pneumonia

Thorax ◽  
2020 ◽  
Vol 75 (11) ◽  
pp. 1009-1016 ◽  
Author(s):  
Peter M George ◽  
Shaney L Barratt ◽  
Robin Condliffe ◽  
Sujal R Desai ◽  
Anand Devaraj ◽  
...  
Keyword(s):  
Clinical Care ◽  
Pulmonary Vascular Disease ◽  
Guidance Document ◽  
Respiratory Complications ◽  
Thoracic Imaging ◽  
Hospitalised Patients ◽  
Increased Risk ◽  
General Wards

The COVID-19 pandemic has led to an unprecedented surge in hospitalised patients with viral pneumonia. The most severely affected patients are older men, individuals of black and Asian minority ethnicity and those with comorbidities. COVID-19 is also associated with an increased risk of hypercoagulability and venous thromboembolism. The overwhelming majority of patients admitted to hospital have respiratory failure and while most are managed on general wards, a sizeable proportion require intensive care support. The long-term complications of COVID-19 pneumonia are starting to emerge but data from previous coronavirus outbreaks such as severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS) suggest that some patients will experience long-term respiratory complications of the infection. With the pattern of thoracic imaging abnormalities and growing clinical experience, it is envisaged that interstitial lung disease and pulmonary vascular disease are likely to be the most important respiratory complications. There is a need for a unified pathway for the respiratory follow-up of patients with COVID-19 balancing the delivery of high-quality clinical care with stretched National Health Service (NHS) resources. In this guidance document, we provide a suggested structure for the respiratory follow-up of patients with clinicoradiological confirmation of COVID-19 pneumonia. We define two separate algorithms integrating disease severity, likelihood of long-term respiratory complications and functional capacity on discharge. To mitigate NHS pressures, virtual solutions have been embedded within the pathway as has safety netting of patients whose clinical trajectory deviates from the pathway. For all patients, we suggest a holistic package of care to address breathlessness, anxiety, oxygen requirement, palliative care and rehabilitation.

scholarly journals Long-term morbidity and health after early menopause due to oophorectomy in women at increased risk of ovarian cancer: rationale and design of the HARMOny study. (Preprint)

2020 ◽  
Author(s):  
Lara Terra ◽  
Maartje J Hooning ◽  
Bernadette A M Heemskerk-Gerritsen ◽  
Marc van Beurden ◽  
Jeanine E Roeters van Lennep ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Ovarian Cancer ◽  
Cognitive Functioning ◽  
Health Effects ◽  
Familial Risk ◽  
Ovarian Cancer Risk ◽  
Increased Risk ◽  
Cardiovascular Assessment

BACKGROUND BRCA1/2 mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) at 35-45 years of age. RRSO substantially decreases ovarian cancer risk, but at the cost of immediate menopause. Knowledge about potential adverse effects of premenopausal RRSO, such as increased risk of cardiovascular disease, osteoporosis, cognitive dysfunction and reduced health-related quality of life (HRQOL), is limited. OBJECTIVE The aim of this study is to assess long-term health effects of premenopausal RRSO in women with high familial risk of breast and/or ovarian cancer on cardiovascular disease, bone health, cognitive functioning, urological complaints, sexual functioning and HRQOL. METHODS We will conduct a multicenter, cross-sectional study with prospective follow-up, nested in a nationwide cohort of women at familial risk of breast and/or ovarian cancer. Five-hundred women who underwent RRSO before 45 years of age, with ≥10 years of follow-up after RRSO, will be compared with 250 women (frequency-matched on current age) who had no RRSO, or who were older than 55 years when they underwent an RRSO. Participants will complete an online questionnaire on lifestyle, medical history, cardiovascular risk factors, osteoporosis, cognitive function, urological complaints and HRQOL. A full cardiovascular assessment and assessment of bone mineral density will be performed. Blood samples will be obtained for marker analysis. Cognitive functioning will be assessed objectively with an online neuropsychological test battery. RESULTS n.a. CONCLUSIONS Knowledge from this study will contribute importantly to counselling women with a high familial risk of breast/ovarian cancer about the long-term health effects of premenopausal RRSO. Results can also be used to offer health recommendations after RRSO. CLINICALTRIAL ClinicalTrials.gov: NCT03835793

scholarly journals The importance of maternal pregnancy vitamin D for offspring bone health: learnings from the MAVIDOS trial

2021 ◽  
Vol 13 ◽  
pp. 1759720X2110069
Author(s):  
Rebecca J. Moon ◽  
Elizabeth M. Curtis ◽  
Stephen J. Woolford ◽  
Shanze Ashai ◽  
Cyrus Cooper ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bone Development ◽  
Controlled Trial ◽  
Clinical Care ◽  
Later Life ◽  
Vitamin D Supplementation ◽  
Public Health Policies ◽  
Positive Effects

Optimisation of skeletal mineralisation in childhood is important to reduce childhood fracture and the long-term risk of osteoporosis and fracture in later life. One approach to achieving this is antenatal vitamin D supplementation. The Maternal Vitamin D Osteoporosis Study is a randomised placebo-controlled trial, the aim of which was to assess the effect of antenatal vitamin D supplementation (1000 IU/day cholecalciferol) on offspring bone mass at birth. The study has since extended the follow up into childhood and diversified to assess demographic, lifestyle and genetic factors that determine the biochemical response to antenatal vitamin D supplementation, and to understand the mechanisms underpinning the effects of vitamin D supplementation on offspring bone development, including epigenetics. The demonstration of positive effects of maternal pregnancy vitamin D supplementation on offspring bone development and the delineation of underlying biological mechanisms inform clinical care and future public-health policies.

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

scholarly journals Impact of atrial fibrillation pattern on outcomes after left atrial appendage closure: lessons from the prospective LAARGE registry

2021 ◽  
Author(s):  
Shinwan Kany ◽  
Johannes Brachmann ◽  
Thorsten Lewalter ◽  
Ibrahim Akin ◽  
Horst Sievert ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Left Atrial Appendage ◽  
Systemic Embolism ◽  
Long Term Outcomes ◽  
Increased Risk ◽  
History Of ◽  
One Year ◽  
The One

Abstract Background Non-paroxysmal (NPAF) forms of atrial fibrillation (AF) have been reported to be associated with an increased risk for systemic embolism or death. Methods Comparison of procedural details and long-term outcomes in patients (pts) with paroxysmal AF (PAF) against controls with NPAF in the prospective, multicentre observational registry of patients undergoing LAAC (LAARGE). Results A total of 638 pts (PAF 274 pts, NPAF 364 pts) were enrolled. In both groups, a history of PVI was rare (4.0% vs 1.6%, p = 0.066). The total CHA2DS2-VASc score was lower in the PAF group (4.4 ± 1.5 vs 4.6 ± 1.5, p = 0.033), while HAS-BLED score (3.8 ± 1.1 vs 3.9 ± 1.1, p = 0.40) was comparable. The rate of successful implantation was equally high (97.4% vs 97.8%, p = 0.77). In the three-month echo follow-up, LA thrombi (2.1% vs 7.3%, p = 0.12) and peridevice leak > 5 mm (0.0% vs 7.1%, p = 0.53) were numerically higher in the NPAF group. Overall, in-hospital complications occurred in 15.0% of the PAF cohort and 10.7% of the NPAF cohort (p = 0.12). In the one-year follow-up, unadjusted mortality (8.4% vs 14.0%, p = 0.039) and combined outcome of death, stroke and systemic embolism (8.8% vs 15.1%, p = 0.022) were significantly higher in the NPAF cohort. After adjusting for CHA2DS2-VASc and previous bleeding, NPAF was associated with increased death/stroke/systemic embolism (HR 1.67, 95% CI 1.02–2.72, p = 0.041). Conclusion Atrial fibrillation type did not impair periprocedural safety or in-hospital MACE patients undergoing LAAC. However, after one year, NPAF was associated with higher mortality. Graphic abstract

scholarly journals Cumulative incidence and risk factors for radiation induced leukoencephalopathy in high grade glioma long term survivors

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Robert Terziev ◽  
Dimitri Psimaras ◽  
Yannick Marie ◽  
Loic Feuvret ◽  
Giulia Berzero ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cumulative Incidence ◽  
High Grade Glioma ◽  
High Grade ◽  
Nucleotide Polymorphisms ◽  
Increased Risk ◽  
Radiation Induced ◽  
Long Term Survivors

AbstractThe incidence and risk factors associated with radiation-induced leukoencephalopathy (RIL) in long-term survivors of high-grade glioma (HGG) are still poorly investigated. We performed a retrospective research in our institutional database for patients with supratentorial HGG treated with focal radiotherapy, having a progression-free overall survival > 30 months and available germline DNA. We reviewed MRI scans for signs of leukoencephalopathy on T2/FLAIR sequences, and medical records for information on cerebrovascular risk factors and neurological symptoms. We investigated a panel of candidate single nucleotide polymorphisms (SNPs) to assess genetic risk. Eighty-one HGG patients (18 grade IV and 63 grade III, 50M/31F) were included in the study. The median age at the time of radiotherapy was 48 years old (range 18–69). The median follow-up after the completion of radiotherapy was 79 months. A total of 44 patients (44/81, 54.3%) developed RIL during follow-up. Twenty-nine of the 44 patients developed consistent symptoms such as subcortical dementia (n = 28), gait disturbances (n = 12), and urinary incontinence (n = 9). The cumulative incidence of RIL was 21% at 12 months, 42% at 36 months, and 48% at 60 months. Age > 60 years, smoking, and the germline SNP rs2120825 (PPARg locus) were associated with an increased risk of RIL. Our study identified potential risk factors for the development of RIL (age, smoking, and the germline SNP rs2120825) and established the rationale for testing PPARg agonists in the prevention and management of late-delayed radiation-induced neurotoxicity.

scholarly journals Prognostic role of neoplastic markers in Takotsubo syndrome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Francesco Santoro ◽  
Tecla Zimotti ◽  
Adriana Mallardi ◽  
Alessandra Leopizzi ◽  
Enrica Vitale ◽  
...  
Keyword(s):  
Serum Levels ◽  
Takotsubo Syndrome ◽  
Ca 15.3 ◽  
Risk Of Death ◽  
Increased Risk ◽  
Ca 19.9 ◽  
Long Term Follow Up

AbstractTakotsubo syndrome (TTS) is an acute heart failure syndrome with significant rates of in and out-of-hospital mayor cardiac adverse events (MACE). To evaluate the possible role of neoplastic biomarkers [CA-15.3, CA-19.9 and Carcinoembryonic Antigen (CEA)] as prognostic marker at short- and long-term follow-up in subjects with TTS. Ninety consecutive subjects with TTS were enrolled and followed for a median of 3 years. Circulating levels of CA-15.3, CA-19.9 and CEA were evaluated at admission, after 72 h and at discharge. Incidence of MACE during hospitalization and follow-up were recorded. Forty-three (46%) patients experienced MACE during hospitalization. These patients had increased admission levels of CEA (4.3 ± 6.2 vs. 2.2 ± 1.5 ng/mL, p = 0.03). CEA levels were higher in subjects with in-hospital MACE. At long term follow-up, CEA and CA-19.9 levels were associated with increased risk of death (log rank p < 0.01, HR = 5.3, 95% CI 1.9–14.8, HR = 7.8 95% CI 2.4–25.1, respectively, p < 0.01). At multivariable analysis levels higher than median of CEA, CA-19.9 or both were independent predictors of death at long term (Log-Rank p < 0.01). Having both CEA and CA-19.9 levels above median (> 2 ng/mL, > 8 UI/mL respectively) was associated with an increased risk of mortality of 11.8 (95% CI 2.6–52.5, p = 0.001) at follow up. Increased CEA and CA-19.9 serum levels are associated with higher risk of death at long-term follow up in patients with TTS. CEA serum levels are correlated with in-hospital MACE.

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