Multigene Panel Testing in a Large Cohort of Adults With Epilepsy

Background and ObjectivesAlthough genetic testing among children with epilepsy has demonstrated clinical utility and become a part of routine testing, studies in adults are limited. This study reports the diagnostic yield of genetic testing in adults with epilepsy.MethodsUnrelated individuals aged 18 years and older who underwent diagnostic genetic testing for epilepsy using a comprehensive, next-generation sequencing-based, targeted gene panel (range 89–189 genes) were included in this cross-sectional study. Clinical information, provided at the discretion of the ordering clinician, was reviewed and analyzed. Diagnostic yield was calculated for all individuals including by age at seizure onset and comorbidities based on clinician-reported information. The proportion of individuals with clinically actionable genetic findings, including instances when a specific treatment would be indicated or contraindicated due to a diagnostic finding, was calculated.ResultsAmong 2,008 individuals, a diagnostic finding was returned for 218 adults (10.9%), with clinically actionable findings in 55.5% of diagnoses. The highest diagnostic yield was in adults with seizure onset during infancy (29.6%, 0–1 year), followed by in early childhood (13.6%, 2–4 years), late childhood (7.0%, 5–10 years), adolescence (2.4%, 11–17 years), and adulthood (3.7%, ≥18 years). Comorbid intellectual disability (ID) or developmental delay resulted in a high diagnostic yield (16.0%), most notably for females (19.6% in females vs 12.3% in males). Among individuals with pharmacoresistant epilepsy, 13.5% had a diagnostic finding, and of these, 57.4% were clinically actionable genetic findings.DiscussionThese data reinforce the utility of genetic testing for adults with epilepsy, particularly for those with childhood-onset seizures, ID, and pharmacoresistance. This is an important consideration due to longer survival and the complexity of the transition from pediatric to adult care. In addition, more than half of diagnostic findings in this study were considered clinically actionable, suggesting that genetic testing could have a direct impact on clinical management and outcomes.

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Patient Use of Dietary Supplements, Home Monitoring, or Genetic Testing for Nonneovascular Age-Related Macular Degeneration

Journal of VitreoRetinal Diseases ◽

10.1177/2474126421989228 ◽

2021 ◽

pp. 247412642198922

Author(s):

Brittany C. Tsou ◽

T.Y. Alvin Liu ◽

Jun Kong ◽

Susan B. Bressler ◽

J. Fernando Arevalo ◽

...

Keyword(s):

Genetic Testing ◽

Macular Degeneration ◽

Dietary Supplements ◽

Home Monitoring ◽

Cross Sectional Study ◽

Age Related Macular Degeneration ◽

Cross Sectional ◽

Supplement Use ◽

Age Related ◽

Disease Study

Purpose: This work evaluated the use and type of dietary supplements and home monitoring for nonneovascular age-related macular degeneration (AMD), as well as the prevalence of genetic testing among patients with AMD. Methods: A cross-sectional study was conducted of 129 participants older than 50 years who completed self-administered questionnaires regarding usage and type of dietary supplements and home monitoring, as well as the participants’ use of genetic testing for AMD. Results: Of 91 participants with AMD, 83 (91.2%) took vitamins, including 55 (60.4%) who used an Age-Related Eye Disease Study (AREDS) or AREDS2 formulation. Of 38 without AMD, 31 (81.6%) took vitamins (difference from participants with AMD = 9.6% [95% CI, 0%-23.2%]), including 2 on an AREDS formulation. Among 82 participants with AMD who were AREDS candidates (intermediate or advanced AMD in 1 or both eyes), 51 (62.2%; 95% CI, 51.7%-72.7%) took an AREDS or AREDS2 formulation, and 31 (37.8%) did not (5 were unsure). Additionally, 50 (61.0%; 95% CI, 50.4%-71.6%) AREDS candidates did some type of home monitoring. Only 1 (1.2%; 95% CI, 0%-3.6%) underwent genetic testing for AMD. Among 9 with AMD who were not AREDS candidates, 4 (44.4%) used an AREDS formulation, 4 (44.4%) did not, and 1 (11.1%) was unsure; only 1 (11.1%) of these 9 performed home monitoring. Conclusions: Despite similar results from past surveys and AREDS2 data supporting supplement use in 2013 and home monitoring in 2014, these findings suggest about one-third of AREDS candidates do not do so, providing further support for improving education regarding appropriate supplement and home monitoring usage. Genetic testing for AMD also appears infrequent.

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The trends of complementary alternative medicine use among cancer patients

BMC Complementary Medicine and Therapies ◽

10.1186/s12906-021-03338-7 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Abdul Rahman Jazieh ◽

Khadega A. Abuelgasim ◽

Husam I. Ardah ◽

Mohammad Alkaiyat ◽

Omar B. Da’ar

Keyword(s):

Alternative Medicine ◽

Cancer Patients ◽

Clinical Information ◽

Cross Sectional Study ◽

Complementary Alternative Medicine ◽

Cultural Changes ◽

Cross Sectional ◽

Patients With Cancer ◽

Cam Use ◽

The Individual

Abstract Background The use of complementary and alternative medicine (CAM) is common among cancer patients and it may reflect the individual and societal beliefs on cancer therapy. Our study aimed to evaluate the trends of CAM use among patients with cancer between 2006 and 2018. Methods We included 2 Cohorts of patients with cancer who were recruited for Cohort 1 between 2006 and 2008 and for Cohort 2 between 2016 and 2018. The study is a cross-sectional study obtaining demographic and clinical information and inquiring about the types of CAM used, the reasons to use them and the perceived benefits. We compared the changes in the patterns of CAM use and other variables between the two cohorts. Results A total of 1416 patients were included in the study, with 464 patients in Cohort 1 and 952 patients in Cohort 2. Patients in Cohort 2 used less CAM (78.9%) than Cohort 1 (96.8%). Cohort 1 was more likely to use CAM to treat cancer compared to Cohort 2 (84.4% vs. 73%, respectively, p < 0.0001,); while Cohort 2 used CAM for symptom management such as pain control and improving appetite among others. Disclosure of CAM use did not change significantly over time and remains low (31.6% in Cohort 1 and 35.7% for Cohort 2). However, physicians were more likely to express an opposing opinion against CAM use in Cohort 2 compared to Cohort 1 (48.7% vs. 19.1%, p < 0.001, respectively). Conclusion There is a significant change in CAM use among cancer patients over the decade, which reflects major societal and cultural changes in this population. Further studies and interventions are needed to improve the disclosure to physicians and to improve other aspects of care to these patients.

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Effect modification of cardiorespiratory fitness, obesity, and physical activity in adults

International Journal of Sports Medicine ◽

10.1055/a-1562-6014 ◽

2021 ◽

Author(s):

Maria do Socorro Simoes ◽

Fernando Wehrmeister ◽

Marcello Romiti ◽

Antonio de Toledo Gagliardi ◽

Rodolfo Arantes ◽

...

Keyword(s):

Physical Activity ◽

Body Mass Index ◽

Body Mass ◽

Cardiorespiratory Fitness ◽

Vigorous Physical Activity ◽

Clinical Information ◽

Cross Sectional Study ◽

Effect Modification ◽

Cross Sectional ◽

Arterial Blood

We investigated if cardiorespiratory fitness modifies the association between obesity and the level of physical activity. In this cross-sectional study, we analyzed data from 746 adults, free of diagnosed cardiorespiratory or locomotor diseases. We analyzed sociodemographic and clinical information, cardiovascular risk factors, cardiorespiratory fitness, anthropometry, and level of physical activity (time spent in moderate-to-vigorous physical activity). Those that spent more time in moderate-to-vigorous physical activity were younger, male, with lower body mass index, without self-reported arterial blood hypertension, diabetes and dyslipidemia, non-smokers, and presented with better cardiorespiratory fitness. The linear regression coefficients showed that cardiorespiratory fitness changes according to the level of physical activity and body mass index (obesity in low cardiorespiratory fitness: β 6.0, p = 0.213, 95%CI -3.5 to 15.6; in intermediate cardiorespiratory fitness: β 6.3, p = 0.114, 95%CI -1.5 to 14.2; in high cardiorespiratory fitness: β -6.3, p = 0.304, 95%CI -18.4 to 5.8). This effect modification trend was present after adjusting the model by covariates. Cardiorespiratory fitness potentially modifies the association between body mass index and the level of physical activity. It should be routinely assessed to identify persons with overweight/ obesity with low/ intermediate cardiorespiratory fitness to prescribe individualized training.

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Care coordination in two of Bogota’s public healthcare networks: A cross-sectional study among doctors

International Journal of Care Coordination ◽

10.1177/2053434519892469 ◽

2019 ◽

Vol 22 (3-4) ◽

pp. 127-139 ◽

Cited By ~ 1

Author(s):

Andrés Daniel Gallego-Ardila ◽

Ángela María Pinzón-Rondón ◽

Amparo Susana Mogollón-Pérez ◽

Carol Ximena Cardozo ◽

Ingrid Vargas ◽

...

Keyword(s):

Job Satisfaction ◽

Care Coordination ◽

Clinical Management ◽

Waiting Times ◽

Clinical Information ◽

Cross Sectional Study ◽

Public Healthcare ◽

Sectional Study ◽

Cross Sectional ◽

High Level

Introduction Care coordination is a priority concern for healthcare systems. In Colombia, there is a lack of information on the topic. This study analysed how doctors of two Bogotá’s public healthcare networks perceived coordination between healthcare levels and what factors are associated with their perception. Methods A cross-sectional study using the COORDENA-CO questionnaire to a sample of 363 doctors (network-1 = 181; network-2 = 182) in 2015. The questionnaire asks about types and dimensions of care coordination: information and clinical management, with items in a Likert scale, as well as conditions regarding health system, organisational and doctors’ conditions. Descriptive statistics and logistic regression analysis were performed. Results The doctors’ perception of a high level of coordination did not exceed 25.4%. On coordination of information, limited transfer of clinical information was found. Concerning clinical management, there were limited care coherence, deficits in patient follow-up and lengthy waiting times for specialised care. A high perception of coordination were associated with being female, being over 50 years old, being a specialist, having less than one year’s working experience, working less than 20 h per week at the centre, forming part of network-1, having time available for performing coordination tasks, having job satisfaction and not identifying limitations imposed by healthcare insurers. Discussion There was limited perception of coordination, in its different dimensions and types with some differences between networks. The results support the importance of guaranteeing job satisfaction, ensuring sufficient time to coordination-related activities and intervening in the restrictions imposed by healthcare insurers to improve care coordination.

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To what extent are GCS and AVPU equivalent to each other when assessing the level of consciousness of children with head injury? A cross-sectional study of UK hospital admissions.

BMJ Open ◽

10.1136/bmjopen-2018-023216 ◽

2018 ◽

Vol 8 (11) ◽

pp. e023216 ◽

Cited By ~ 5

Author(s):

Amy GL Nuttall ◽

Katie M Paton ◽

Alison M Kemp

Keyword(s):

Head Injury ◽

Hospital Admissions ◽

Diagnostic Yield ◽

Cross Sectional Study ◽

Initial Assessment ◽

Clear Correlation ◽

Sectional Study ◽

Cross Sectional ◽

Significant Difference ◽

Level Of Consciousness

ObjectiveTo evaluate utility and equivalence of Glasgow Coma Scale (GCS) and the Alert, Voice, Pain, Unresponsive (AVPU) scale in children with head injury.DesignCross sectional study.SettingUK hospital admissions: September 2009–February 2010.Patients<15 years with head injury.InterventionsGCS and/or AVPU at injury scene and in emergency departments (ED).Main outcomeMeasures used, the equivalence of AVPU to GCS, GCS at the scene predicting GCS in ED, CT results by age, hospital type.ResultsLevel of consciousness was recorded in 91% (5168/5700) in ED (43%: GCS/30.5%: GCS+AVPU/17.3%: AVPU) and 66.1% (1190/1801) prehospital (33%: GCS/26%GCS+AVPU/7%: AVPU). Failure to record level of consciousness and the use of AVPU were greatest for infants. Correlation between AVPU and median GCS in 1147 children <5 years: A=15, V=14, P=8, U=3, for 1163 children ≥5 years: A=15, V=13, P=11, U=3. There was no significant difference in the proportion of infants who had a CT whether AVPU=V/P/U or GCS<15. However diagnostic yield of intracranial injury or depressed fracture was significantly greater for V/P/U than GCS<15 :7/7: 100% (95% CI 64.6% to 100%) versus 5/17: 29.4% (95% CI 13.3% to 53.1%). For children >1 year significantly more had a CT scan when GCS<14 was recorded than ‘V/P/U only’ and the diagnostic yield was greater. Prehospital GCS and GCS in the ED were the same for 77.4% (705/911).ConclusionThere was a clear correlation between Alert and GCS=15 and between Unresponsive and GCS=3 but a wider range of GCS scores for responsive to Pain or Voice that varied with age. AVPU was valuable at initial assessment of infants and did not adversely affect the proportion of infants who had head CT or the diagnostic yield.

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MO529PREVALENCE AND DETERMINANT FACTORS OF DEPRESSION AND ANXIETY IN PEOPLE WITH CHRONIC KIDNEY DISEASE : A MOROCCAN CROSS-SECTIONAL STUDY

Nephrology Dialysis Transplantation ◽

10.1093/ndt/gfab087.0049 ◽

2021 ◽

Vol 36 (Supplement_1) ◽

Author(s):

Amina Chrifi Alaoui ◽

Mohammed Omari ◽

Noura Qarmiche ◽

Omar Kouiri ◽

Basmat Amal Chouhani ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Depression Scale ◽

Clinical Information ◽

Cross Sectional Study ◽

University Hospital ◽

Depression And Anxiety ◽

Cross Sectional ◽

Determinant Factors ◽

Before And After

Abstract Background and Aims The Chronic kidney disease (CKD), like many chronic illnesses, is invariably associated with various psychiatric conditions and poorer quality of life. This study aims to assess the prevalence of depression and anxiety among CKD patient and their determinant factors. Method this is a cross sectional single center study in a Moroccan university hospital. Patients aged ≥ 18 years old and followed for more than one year were included. The data was collected using a questionnaire for sociodemographic and clinical information and the Hospital anxiety and depression scale (HADS) to assess depression and anxiety prevalence. After the description of the population’s characteristics, the statistical analysis aimed to assess the association between depression and anxiety disorders and the estimated glomerular filtration rate before and after adjustment on several confounding factors. Results 88 patients were included (63.6% of them were women, the mean age was 61.8±14.0 years), 21 were on stage 3, 46 were on stage 4, and 21 were on stage 5 of the CKD. The median of depression sub-score was 5.00[2.00; 10.0], the median of anxiety sub-score was 6.00[4.00; 9.00], and the median of the global score was 11.0[7.00; 20.0], 22.0% of included patients had depression and 22.0% had anxiety. Both depression and anxiety scores were associated to eGFR before and after adjustment (p= 0.001, p<0.001and p=0.04, p=0.03 respectively). Conclusion This study showed that depression and anxiety are strongly related to the CKD progression, which should motivate both doctors and nurses to improve their psychological care toward CKD patients.

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Use of flexible bronchoscopy for rapid diagnosis of suspected tubercular cases in rural India

The Journal of Infection in Developing Countries ◽

10.3855/jidc.608 ◽

2009 ◽

Vol 3 (11) ◽

pp. 860-864 ◽

Cited By ~ 3

Author(s):

Sameer Singhal ◽

Abhay M. Gaidhane ◽

Nazli Khatib ◽

Tripti Hrivastava ◽

Sanjay Diwan ◽

...

Keyword(s):

Diagnostic Yield ◽

Correct Diagnosis ◽

Positive Culture ◽

Cross Sectional Study ◽

Flexible Bronchoscopy ◽

Special Importance ◽

Cross Sectional ◽

Tuberculosis Patients ◽

Negative Sputum ◽

Tuberculosis Therapy

Background: Reaching a correct diagnosis is a challenge for physicians treating any of the 30% to 50% of pulmonary tuberculosis patients who have negative sputum cultures or who present with no sputum. Flexible bronchoscopy acquires special importance for these cases for whom empirical anti-tuberculosis therapy is the only option left. In our study we aimed to assess the diagnostic yield of flexible bronchoscopy in patients, suspected to have tuberculosis, whose sputum smears were negative. Methodology: In our hospital-based cross-sectional study, 42 patients were enrolled by consecutive sampling. Flexible bronchoscopy and selective bronchial washings were done in all patients. Results: Bronchoscopy lavage smears were positive for M. tuberculosis in 10 (23.8%) patients. Fifteen (35.7%) patients had positive culture. Conclusion: Flexible bronchoscopy has an important role in the diagnosis of patients suspected to have tuberculosis, whose sputum smears are negative or who can not produce sputum.

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Vision-related Quality of Life in Patients With Glaucoma: the Role of Illness Perceptions

10.21203/rs.3.rs-934290/v1 ◽

2021 ◽

Author(s):

Qiqi Zhang ◽

Wenzhe Zhou ◽

Di Song ◽

Yanqian Xie ◽

Hao Lin ◽

...

Keyword(s):

Quality Of Life ◽

Illness Perceptions ◽

Linear Regression Analysis ◽

Illness Perception ◽

Clinical Information ◽

Cross Sectional Study ◽

Cross Sectional ◽

Illness Perception Questionnaire ◽

Related Quality

Abstract Purpose: To explore the predictive effect of illness perceptions on vision-related quality of life (VRQoL) in Chinese glaucoma patients.Methods: In this cross-sectional study, 97 patients with glaucoma completed the Brief Illness Perception Questionnaire (BIPQ), the Glaucoma Quality of Life-15 (GQL-15), and a questionnaire with sociodemographic and clinical information. Correlation analysis and hierarchical linear regression analysis were performed.Results: The BIPQ total score was positively correlated with the scores of the total GQL-15 and its four dimensions. Chronic comorbidities, type of glaucoma, best-corrected visual acuity (BCVA), mean defect (MD) of visual field in the better eye, and identity in the BIPQ were the critical predictors of VRQoL. Illness perceptions independently accounted for 7.8% of the variance in the VRQoL of glaucoma patients.Conclusions: Patients with stronger illness perceptions who perceive themselves as having more glaucoma symptoms are likely to experience worse VRQoL. Illness perceptions in glaucoma patients deserve clinical attention, and further studies are needed to examine whether cognitive interventions targeting illness perceptions can improve VRQoL.

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Relationship of fatigue with depressive symptoms and level of physical activity in women with breast cancer diagnosis

Brazilian Journal of Kinanthropometry and Human Performance ◽

10.1590/1980-0037.2020v22e59189 ◽

2020 ◽

Vol 22 ◽

Author(s):

Luciana Beatriz Bosi Mendonça de Moura Matoso ◽

Leonessa Boing ◽

Thainá Korpalski ◽

Mirella Dias ◽

Jéssica Moratelli ◽

...

Keyword(s):

Breast Cancer ◽

Physical Activity ◽

Depressive Symptoms ◽

Clinical Information ◽

Breast Cancer Diagnosis ◽

Cross Sectional Study ◽

Short Version ◽

Cross Sectional ◽

Oncology Research ◽

Severe Fatigue

Abstract Breast cancer is the most frequent in women, resulting in fatigue and depressive symptoms as consequence of treatment, but physical activity can help in this process. The aim of this study was to investigate the relationship between fatigue, depressive symptoms and practice of physical activity of women with breast cancer during treatment or after cancer treatment. This is a cross-sectional study with 179 women (56.89 ± 9.4 years) from the Oncology Research Center - CEPON, using questionnaire on general and clinical information, fatigue (Piper Fatigue Scale) depressive symptoms (Beck Depression Inventory) and physical activity (IPAQ - short version). Women with moderate to severe fatigue underwent physiotherapy (p = 0.001) and women with no fatigue had minimum depressive symptoms (p ?0.001). Level of physical activity was not associated with fatigue, with most women being insufficiently active and women with mild fatigue had longer walking time than those without fatigue (p = 0.049). Women with depressive symptoms were almost three times more likely of having mild to severe fatigue and those who underwent physiotherapy were twice as likely of having mild to severe fatigue. Women with fatigue had greater presence of depressive symptoms. Professionals working in the field of oncology should recommend the practice of physical activity in order to minimize the side effects of treatment and observe depressive symptoms and fatigue in these women.

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Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran

International Journal of Reproductive BioMedicine ◽

10.18502/ijrm.v17i8.4819 ◽

2019 ◽

Cited By ~ 1

Author(s):

Mohammad Bagher Hashemi-Soteh ◽

Ali Vali Nejad ◽

Golamreza Ataei ◽

Dariush Ghasemi ◽

Rita Siamy

Keyword(s):

Genetic Counseling ◽

Genetic Testing ◽

Genetic Diseases ◽

Cross Sectional Study ◽

Or Education ◽

Genetic Tests ◽

Northern Iran ◽

Cross Sectional ◽

Hereditary Disorders ◽

Knowledge And Attitude

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.

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