scholarly journals Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome

2019 ◽  
Vol 14 (8) ◽  
Author(s):  
Andrea Kokorovic ◽  
Aidan Thomas ◽  
Jesus Serrano-Lomelin ◽  
Meghan Ferguson ◽  
Ricardo A. Rendon

Introduction: Guidelines are available to assist providers in identifying patients with renal cell carcinoma (RCC) that may benefit from genetic counselling, however, the evidence for these recommendations lacks support from the literature and controversy remains as to who should be referred. We aimed to delineate risk factors associated with a positive genetic test in a real-life cohort of patients with RCC referred to a regional medical genetics unit for evaluation of a hereditary kidney cancer syndrome. Methods: Patients with a diagnosis of RCC referred to Maritime Medical Genetics Service (Nova Scotia, Canada) from 2006–2017 were reviewed using retrospective data. The primary outcome was identification of clinical features that were associated with a positive test result. Logistic regression models were used for analysis. Results: A total of 135 patients were referred to medical genetics for evaluation; 102 patients were evaluated, 75 underwent testing, and 74 were included in the final analysis. Five patients tested positive: three Birt Hogg Dube, one Cowden syndrome, and one Von Hippel Lindau. Presence of dermatological lesions (specifically fibrofolliculomas) and more than two high-risk features were the only predictors of a positive test result. Conclusions: The presence of dermatological lesions and more than two high-risk features are the only predictors of a positive test result in patients with a suspected hereditary kidney cancer syndrome. These findings are not reflected in current guidelines, and the clinical implementation of our results may improve the identification of high-risk patients for genetic counselling.

2021 ◽  
Vol 12 ◽  
Author(s):  
Sergey G. Shcherbak ◽  
Anna Yu Anisenkova ◽  
Sergei V. Mosenko ◽  
Oleg S. Glotov ◽  
Alexander N. Chernov ◽  
...  

ObjectiveA critical role in coronavirus disease 2019 (COVID-19) pathogenesis is played by immune dysregulation that leads to a generalized uncontrolled multisystem inflammatory response, caused by overproduction of proinflammatory cytokines, known as “a cytokine storm” (CS), strongly associated with a severe course of disease. The aim of this study is to identify prognostic biomarkers for CS development in COVID-19 patients and integrate them into a prognostic score for CS-associated risk applicable to routine clinical practice.Materials and MethodsThe authors performed a review of 458 medical records from COVID-19 patients (241 men and 217 women aged 60.0 ± 10.0) who received treatment in the St. Petersburg State Budgetary Institution of Healthcare City Hospital 40 (City Hospital 40, St. Petersburg), from Apr. 18, 2020 to Nov. 21, 2020. The patients were split in two groups: one group included 100 patients with moderate disease symptoms; the other group included 358 patients with progressive moderately severe, severe, and extremely severe disease. The National Early Warning Score (NEWS) score was used alongside with clinical assessment, chest computed tomographic (CT) scans, electrocardiography (ECG), and lab tests, like ferritin, C-reactive protein (CRP), interleukin (IL)-6, lactate dehydrogenase (LDH), and D-dimer.ResultsThe basic risk factors for cytokine storms in COVID-19 patients are male gender, age over 40 years, positive test result for replicative severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA, absolute lymphocyte count, dynamics in the NEWS score, as well as LDH, D-dimer, ferritin, and IL-6 levels. These clinical and instrumental findings can be also used as laboratory biomarkers for diagnosis and dynamic monitoring of cytokine storms. The suggested prognostic scale (including the NEWS score dynamics; serum IL-6 greater than 23 pg/ml; serum CRP 50 mg/L or greater; absolute lymphocyte count less than 0.72 × 109/L; positive test result for replicative coronavirus (SARS-CoV-2) RNA; age 40 years and over) is a useful tool to identify patients at a high risk for cytokine storm, requiring an early onset of anti-inflammatory therapy.


BMJ ◽  
2021 ◽  
pp. n2060
Author(s):  
Lynda Fenton ◽  
Ciara Gribben ◽  
David Caldwell ◽  
Sam Colville ◽  
Jen Bishop ◽  
...  

Abstract Objective To determine the risk of hospital admission with covid-19 and severe covid-19 among teachers and their household members, overall and compared with healthcare workers and adults of working age in the general population. Design Population based nested case-control study. Setting Scotland, March 2020 to July 2021, during defined periods of school closures and full openings in response to covid-19. Participants All cases of covid-19 in adults aged 21 to 65 (n=132 420) and a random sample of controls matched on age, sex, and general practice (n=1 306 566). Adults were identified as actively teaching in a Scottish school by the General Teaching Council for Scotland, and their household members were identified through the unique property reference number. The comparator groups were adults identified as healthcare workers in Scotland, their household members, and the remaining general population of working age. Main outcome measures The primary outcome was hospital admission with covid-19, defined as having a positive test result for SARS-CoV-2 during hospital admission, being admitted to hospital within 28 days of a positive test result, or receiving a diagnosis of covid-19 on discharge from hospital. Severe covid-19 was defined as being admitted to intensive care or dying within 28 days of a positive test result or assigned covid-19 as a cause of death. Results Most teachers were young (mean age 42), were women (80%), and had no comorbidities (84%). The risk (cumulative incidence) of hospital admission with covid-19 was <1% for all adults of working age in the general population. Over the study period, in conditional logistic regression models adjusted for age, sex, general practice, race/ethnicity, deprivation, number of comorbidities, and number of adults in the household, teachers showed a lower risk of hospital admission with covid-19 (rate ratio 0.77, 95% confidence interval 0.64 to 0.92) and of severe covid-19 (0.56, 0.33 to 0.97) than the general population. In the first period when schools in Scotland reopened, in autumn 2020, the rate ratio for hospital admission in teachers was 1.20 (0.89 to 1.61) and for severe covid-19 was 0.45 (0.13 to 1.55). The corresponding findings for household members of teachers were 0.91 (0.67 to 1.23) and 0.73 (0.37 to 1.44), and for patient facing healthcare workers were 2.08 (1.73 to 2.50) and 2.26 (1.43 to 3.59). Similar risks were seen for teachers in the second period, when schools reopened in summer 2021. These values were higher than those seen in spring/summer 2020, when schools were mostly closed. Conclusion Compared with adults of working age who are otherwise similar, teachers and their household members were not found to be at increased risk of hospital admission with covid-19 and were found to be at lower risk of severe covid-19. These findings should reassure those who are engaged in face-to-face teaching.


BMJ Open ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. e040448
Author(s):  
Jo Waller ◽  
G James Rubin ◽  
Henry W W Potts ◽  
Abigail L Mottershaw ◽  
Theresa M Marteau

ObjectiveTo assess the impact of describing an antibody-positive test result using the terms Immunity and Passport or Certificate, alone or in combination, on perceived risk of becoming infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and protective behaviours.Design2×3 experimental design.SettingOnline.Participants1204 adults from a UK research panel.InterventionParticipants were randomised to receive one of six descriptions of an antibody test and results showing SARS-CoV-2 antibodies, differing in the terms describing the type of test (Immunity vs Antibody) and the test result (Passport vs Certificate vs Test).Main outcome measuresPrimary outcome: proportion of participants perceiving no risk of infection with SARS-CoV-2 given an antibody-positive test result. Other outcomes include: intended changes to frequency of hand washing and physical distancing.ResultsWhen using the term Immunity (vs Antibody), 19.1% of participants (95% CI 16.1% to 22.5%) (vs 9.8% (95% CI 7.5% to 12.4%)) perceived no risk of catching coronavirus given an antibody-positive test result (adjusted OR (AOR): 2.91 (95% CI 1.52 to 5.55)). Using the terms Passport or Certificate—as opposed to Test—had no significant effect (AOR: 1.24 (95% CI 0.62 to 2.48) and AOR: 0.96 (95% CI 0.47 to 1.99) respectively). There was no significant interaction between the effects of the test and result terminology. Across groups, perceiving no risk of infection was associated with an intention to wash hands less frequently (AOR: 2.32 (95% CI 1.25 to 4.28)); there was no significant association with intended avoidance of physical contact (AOR: 1.37 (95% CI 0.93 to 2.03)).ConclusionsUsing the term Immunity (vs Antibody) to describe antibody tests for SARS-CoV-2 increases the proportion of people believing that an antibody-positive result means they have no risk of catching coronavirus in the future, a perception that may be associated with less frequent hand washing.Trial registration numberOpen Science Framework: https://osf.io/tjwz8/files/


2004 ◽  
Vol 124A (4) ◽  
pp. 346-355 ◽  
Author(s):  
Mari�lle S. van Roosmalen ◽  
P.F.M. Stalmeier ◽  
L.C.G. Verhoef ◽  
J.E.H.M. Hoekstra-Weebers ◽  
J.C. Oosterwijk ◽  
...  

2012 ◽  
Vol 31 (5) ◽  
pp. 873-875 ◽  
Author(s):  
G. A. Hooisma ◽  
H. Balink ◽  
P. M. Houtman ◽  
R. H. J. A. Slart ◽  
K. D. F. Lensen

2021 ◽  
Author(s):  
Caroline Cake ◽  
Emma Ogburn ◽  
Heather Pinches ◽  
Garry Coleman ◽  
David Seymour ◽  
...  

ABSTRACTBackgroundThe COVID-19 pandemic has presented unique challenges for rapidly designing, initiating, and delivering therapeutic clinical trials. PRINCIPLE is the UK national platform investigating repurposed therapies for COVID-19 treatment of older people in the community at high risk of complications. Standard methods of patient recruitment were failing to meet the required pace and scale of enrolment.This paper describes the development and appraisal of a near real-time, data-driven, ethical approach for enhancing recruitment in community care by contacting people with a recent COVID-19 positive test result from the central NHS Test and Trace service within 24-48 hours of their test result.MethodsA multi-disciplinary team was formed to solve the technical, ethical, public perception, logistical and information governance issues required to provide a near-real time (within 24-48 hours of receiving a positive test) feed of potential trial participants from test result data to the research team. PRINCIPLE was also given unique access to the Summary Care Record (SCR) to ensure safe prescribing, and to enable the trial team to quickly and safely bring consented patients into the trial. A survey of the public was used to understand public perceptions of the use of test data for this proposed methodology.ResultsPrior to establishing the data service, PRINCIPLE registered on average 87 participants per week. This increased by up to 87 additional people registered per week from the test data, contributing to an increase from 1,013 recruits to PRINCIPLE at the start of October 2020 to 2,802 recruits by 20th December 2020.While procedural caveats were identified by the public consultation, out of 2,639 people contacted by PRINCIPLE following a positive test result, no one raised a concern about being approached.ConclusionsThis paper describes a novel approach to using near-real time NHS operational data to recruit community-based patients within a few days of presentation with acute illness.This approach increased recruitment, and reduced time between positive test and randomisation, allowing more rapid evaluation of treatments and increased safety for participants. End-to-end public and patient involvement in the design of the approach provided evidence to inform information governance decisions.Trial registrationPRINCIPLE is funded by UK Research and Innovation and the Department of Health and Social Care through the National Institute for Health Research.EudraCT number: 2020-001209-22ISRCTN registry: ISRCTN86534580REC number: 20/SC/058IRAS number: 281958


Author(s):  
Iveta Ozere ◽  
Ģirts Skenders ◽  
Iveta Līduma ◽  
Olga Bobrikova ◽  
Zita Lauska ◽  
...  

Using of T-Spot.TB and Mantoux tests in diagnosis of M. tuberculosis infection in BCG vaccinated children aged five and younger Infection with M. tuberculosis (MT) is difficult to diagnose in young BCG (Bacillus Calmette-Guérin) vaccinated children using Mantoux test alone, as a positive test result may be due to infection with MT and previous BCG vaccination. We aimed to test the T-SPOT. TB test for BCG-vaccinated children aged five and younger in two groups — with or without contact with an active tuberculosis (ATB) patient. Prospectively a study group of 121 children (having contact with ATB patient) and a control group of 64 children (without known contact with ATB patient) were examined using Mantoux and T-SPOT. TB tests. The T-SPOT. TB test was positive in 66 (54.5%) study group children and in 2 (3.1%) control group children (P < 0.01). Induration in the Mantoux test ≥ 10 mm was observed in 62 (91.0%) of 68 T-SPOT. TB positive children, and 34 (29.1%) of 117 T-SPOT. TB negative children (P < 0.01). In the group with a negative T-SPOT. TB result boosting of the Mantoux test was observed in 21 (66%) of 32 children who had received repeated Mantoux testing before being included in the study. According to the results, the application of the T-SPOT. TB test is reasonable for primary contact children evaluation and follow-up contact children for whom primary tests did not confirm infection with MT.


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