The diagnostic utility of exome‐based carrier screening in families with a positive family history

Author(s):  
Udhaya Hardik Kotecha ◽  
Mehul Mistri ◽  
Pranavchand Rayabarapu ◽  
Parth Shah ◽  
Nidhi Shah
2004 ◽  
Vol 171 (4S) ◽  
pp. 172-173
Author(s):  
Kathleen Herkommer ◽  
Juergen E. Gschwend ◽  
Martina Kron ◽  
Richard E. Hautmann ◽  
Thomas Paiss

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.


2021 ◽  
Vol 23 (1) ◽  
Author(s):  
Irazú Contreras-Yáñez ◽  
Pilar Lavielle ◽  
Patricia Clark ◽  
Virginia Pascual-Ramos

Abstract Background Assessing risk perception (RP) helps explain how rheumatoid arthritis (RA) patients integrate their ideas concerning the disease and how this understanding affects their self-care management. Compliance with treatment impacts disease-related outcomes and could be associated with RP to variable degrees and at different levels. The primary objective was to determine a potential association between RP and compliance with therapy in RA outpatients and to identify additional factors. The secondary objective was to identify factors associated with judgment bias such as unrealistic RP. Patients and methods Between January 2018 and June 2019, 450 consecutive outpatients who received RA-related treatment were invited to a face-to-face interview to obtain socio-demographic data, RA-related information, comorbidities, and the following outcomes: adherence, persistence, and concordance with medications assessed with a questionnaire locally designed; RP with the RP questionnaire (RPQ); disease activity with the Routine Assessment of Patient Index Data-3 (RAPID-3); disability with the Health Assessment Questionnaire Disability Index (HAQ-DI); quality of life with Medical Outcomes Study Short Form-36 (SF-36) instrument; pain and overall disease with the respective visual analogue scale (VAS); and health literacy assessed with 3 questions. Significant RP was defined according to a cut-off based on the 75th percentile value of the sample in which the RPQ was validated. Unrealistic RP was defined based on the coincidence of the presence/absence of significant RP and less/more than 7 unfavorable medical criteria. Multiple logistic regression analysis was used. Patients provided written informed consent and the study received Internal Review Board approval. Results There were 415 patients included, primarily middle-aged women with long-standing disease and moderate disease activity. Almost half of the patients were receiving corticosteroids and 15.9% intensive RA-related treatment. There were 44.1% of the patients concordant with treatment and 22.6% had significant RP. The patients’ treatment behavior was not retained in the regression analysis; meanwhile, rheumatoid nodes, surgical joint replacement, family history of RA, and higher RAPID-3 score were associated with significant RP. There were 56 patients with unrealistic RP; significant RP and more unfavorable medical criteria were associated with unrealistic RP. Conclusions Compliance with therapy was not associated with significant RP in RA outpatients.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.


2016 ◽  
Vol 10 (9) ◽  
pp. 1024-1032 ◽  
Author(s):  
Sung Wook Hwang ◽  
Min Seob Kwak ◽  
Wan Soo Kim ◽  
Jeong-Mi Lee ◽  
Sang Hyoung Park ◽  
...  

1997 ◽  
Vol 12 (3) ◽  
pp. 149-151 ◽  
Author(s):  
D Sarantidis ◽  
A Thomas ◽  
K Iphantis ◽  
N Katsaros ◽  
J Tripodianakis ◽  
...  

SummaryIn this study we investigated 1) the changes in anxiety, depression and denial from admission to discharge in patients admitted to the intensive care unit following an acute myocardial infarction and 2) the effect of smoking habits, time lapsed from the appearance of symptoms to seeking help behavior, presence of a person that motivated the patient to seek help, previous myocardial infarction (MI) and family history of MI, on these changes. The results indicated that 1) the levels of both anxiety and depression increased from admission to discharge, while denial decreased; 2) positive family history of MI was associated with lower difference of denial between admission and discharge.


1984 ◽  
Vol 66 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Ottar Gudmundsson ◽  
Hans Herlitz ◽  
Olof Jonsson ◽  
Thomas Hedner ◽  
Ove Andersson ◽  
...  

1. During 4 weeks 37 normotensive 50-year-old men identified by screening in a random population sample were given 12 g of NaCl daily, in addition to their usual dietary sodium intake. Blood pressure, heart rate, weight, urinary excretion of sodium, potassium and catecholamines, plasma aldosterone and noradrenaline and intra-erythrocyte sodium content were determined on normal and increased salt intake. The subjects were divided into those with a positive family history of hypertension (n = 11) and those without such a history (n = 26). 2. Systolic blood pressure and weight increased significantly irrespective of a positive family history of hypertension. 3. On normal salt intake intra-erythrocyte sodium content was significantly higher in those with a positive family history of hypertension. During high salt intake intra-erythrocyte sodium content decreased significantly in that group and the difference between the hereditary subgroups was no longer significant. 4. In the whole group urinary excretion of noradrenaline, adrenaline and dopamine increased whereas plasma aldosterone decreased during the increased salt intake. 5. Thus, in contrast to some earlier studies performed in young subjects, our results indicate that moderately increased sodium intake acts as a pressor agent in normotensive middle-aged men whether there was a positive family history of hypertension or not. We confirm that men with positive family history of hypertension have an increased intra-erythrocyte sodium content, and that an increase in salt intake seems to increase overall sympathetic activity.


2015 ◽  
Vol 28 (2) ◽  
pp. 211-219 ◽  
Author(s):  
Mei Zhao ◽  
Xiaozhen Lv ◽  
Maimaitirexiati Tuerxun ◽  
Jincai He ◽  
Benyan Luo ◽  
...  

ABSTRACTBackground:The prevalence and factors associated with delays in help seeking for people with dementia in China are unknown.Methods:Within 1,010 consecutively registered participants in the Clinical Pathway for Alzheimer's Disease in China (CPAD) study (NCT01779310), 576 persons with dementia (PWDs) and their informants reported the estimated time from symptom onset to first medical visit seeking diagnosis. Univariate analysis of general linear model was used to examine the potential factors associated with the delayed diagnosis seeking.Results:The median duration from the first noticeable symptom to the first visit seeking diagnosis or treatment was 1.77 years. Individuals with a positive family history of dementia had longer duration (p= 0.05). Compared with other types of dementia, people with vascular dementia (VaD) were referred for diagnosis earliest, and the sequence for such delays was: VaD < Alzheimer's disease (AD) < frontotemporal dementia (FTD) (p< 0.001). Subtypes of dementia (p< 0.001), family history (p= 0.01), and education level (p= 0.03) were associated with the increased delay in help seeking.Conclusions:In China, seeking diagnosis for PWDs is delayed for approximately 2 years, even in well-established memory clinics. Clinical features, family history, and less education may impede help seeking in dementia care.


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