High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families

AbstractAs a rare disease with genetic pathogenesis, observational study about familial CHD recurrence risk on CHD patients with laterality defects is lacking. This study aimed to investigate familial recurrence among families of patients with CHD and laterality defects, and compare them with CHD patients without laterality defects. A total of 184 patients with CHD and laterality defects treated in Cardiovascular Center, Children’s Hospital of Fudan University were observed from 2008 to 2019. A detailed family history was documented by trained staff using questionnaires, and information about the subtypes of CHD and laterality defects was also collected. In addition, positive family history information, including all three degrees relatives and all affected family members, was reconfirmed by trained medical staff through face-to-face interviews, telephone interviews, and letter return visits. Of the 184 included patients, 30 had at least one family member (from among three linear generations and distant relatives) with CHD. The familial recurrence rate of CHD in our cohort was 16.3% (30/184), which was higher than the 3.3% (67/2024) of patients with CHD without laterality defects. This result shows that the recurrence rate among the first-, second-, and third-degree relatives was 11.7% (11/94), 1.5% (3/204), and 3.1% (6/91) and that the recurrence rate among siblings (21.4%, 9/42) was higher than that among parents (3.8%, 2/52). The familial recurrence risk of CHD among patients with CHD and laterality defects is high, which is consistent with the previous study that reported a high familial recurrence of heterotaxy of 10%. First-degree relatives have a higher recurrence rate than second- and third-degree relatives, especially siblings. These findings have important significance for prenatal screening, intervention, and genetic counseling in the Chinese population, but may not be generalizable to other populations that may have different rates of familial and sporadic cases.

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The effects of obesity along with other risk factors on type 2 diabetic patients in the northwest of Libya

World Journal of Advanced Research and Reviews ◽

10.30574/wjarr.2020.8.2.0413 ◽

2020 ◽

Vol 8 (2) ◽

pp. 117-123

Author(s):

Khaled Ali ALawaini ◽

Mustafa Ali Abugila

Keyword(s):

Risk Factors ◽

Type 2 Diabetes ◽

Family History ◽

Positive Family History ◽

Diabetic Patients ◽

Type 2 Diabetic Patients ◽

Face To Face ◽

High Fasting Plasma Glucose ◽

Type 2 Diabetic

Type 2 diabetes has several causes, such as family history, age, physical inactivity, and unhealthy food. Obesity is a significant cause of type 2 diabetes (T2D). Microvascular and macrovascular complications are associated with long-term diabetes. However, the main objective in this study is to search for complications and risk factors related to diabetes. Therefore, 472 diabetic patients with type 2 diabetes from northwest Libya participated in this study. Face-to-face interviews conducted using a questionnaire asking each patient information about name, age, sex, duration of disease, family history, and measured body mass index (BMI). A biochemical analysis (FPG, HbA1c, cholesterol, and triglyceride) was also performed on diabetic patients. Our results showed that 60.6% of type 2 diabetic patients had a positive family history. Poor glycemic control identified by high fasting plasma glucose (FPG) 186±9 mg/dl, and glycated hemoglobin was (HbA1C) 8.36%±1.8.

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Cleft Lip

Genetic Consultations in the Newborn ◽

10.1093/med/9780199990993.003.0011 ◽

2019 ◽

pp. 79-84

Author(s):

Robin D. Clark ◽

Cynthia J. Curry

Keyword(s):

Family History ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Positive Family History ◽

Maternal Diabetes ◽

Recurrence Risk ◽

Background Information ◽

Incidence Risk ◽

History Of ◽

Associated Malformations

This chapter reviews background information about the incidence, risk factors, family history, genetics, recurrence risk, and epidemiology of isolated and syndromic cleft lip with or without cleft palate. Microforms of cleft lip are described. The distinctive anatomy of bilateral cleft lip is contrasted with premaxillary agenesis, a wider defect caused by absence of the frontonasal process. The discussion on the differential diagnosis of cleft lip summarizes its common causes, including teratogenic agents (alcohol, maternal diabetes, phenytoin), chromosome anomalies (aneuploidy, recurrent deletion syndromes), and Mendelian clefting disorders that include associated malformations in other organ systems. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with an oral cleft who has a positive family history of cleft lip and palate with paramedian lip pits due to Van der Woude syndrome.

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W01.97 Correlation between positive family history of cardiovascular disease and inflammatory factors for children and adolescents

Atherosclerosis ◽

10.1016/s0021-9150(04)90097-4 ◽

2004 ◽

Vol 5 (1) ◽

pp. 22-23

Author(s):

M WOSIKERENBEK

Keyword(s):

Cardiovascular Disease ◽

Family History ◽

Children And Adolescents ◽

Positive Family History ◽

Inflammatory Factors ◽

History Of

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649: Prostate Cancer Screening in Persons with a Positive Family History

The Journal of Urology ◽

10.1016/s0022-5347(18)37911-4 ◽

2004 ◽

Vol 171 (4S) ◽

pp. 172-173

Author(s):

Kathleen Herkommer ◽

Juergen E. Gschwend ◽

Martina Kron ◽

Richard E. Hautmann ◽

Thomas Paiss

Keyword(s):

Prostate Cancer ◽

Cancer Screening ◽

Family History ◽

Prostate Cancer Screening ◽

Positive Family History

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The association between diabetes and thyroid cancer risk: a hospital-based case-control study in China

BMC Endocrine Disorders ◽

10.1186/s12902-021-00684-y ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Meng Wang ◽

Wei-Wei Gong ◽

Feng Lu ◽

Ru-Ying Hu ◽

Qing-Fang He ◽

...

Keyword(s):

Thyroid Cancer ◽

Family History ◽

Case Control Study ◽

Positive Family History ◽

Case Control ◽

Diabetes Duration ◽

Family History Of Diabetes ◽

Thyroid Cancer Risk ◽

History Of ◽

Control Study

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.

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Family history assessment significantly enhances delivery of precision medicine in the genomics era

Genome Medicine ◽

10.1186/s13073-020-00819-1 ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Yasmin Bylstra ◽

Weng Khong Lim ◽

Sylvia Kam ◽

Koei Wan Tham ◽

R. Ryanne Wu ◽

...

Keyword(s):

Family History ◽

Cancer Risk ◽

Clinical Care ◽

Genomic Analysis ◽

Population Level ◽

Cancer Genes ◽

Family History Information ◽

Screening Programs ◽

Family History Assessment ◽

Risk Of Cancer

Abstract Background Family history has traditionally been an essential part of clinical care to assess health risks. However, declining sequencing costs have precipitated a shift towards genomics-first approaches in population screening programs rendering the value of family history unknown. We evaluated the utility of incorporating family history information for genomic sequencing selection. Methods To ascertain the relationship between family histories on such population-level initiatives, we analysed whole genome sequences of 1750 research participants with no known pre-existing conditions, of which half received comprehensive family history assessment of up to four generations, focusing on 95 cancer genes. Results Amongst the 1750 participants, 866 (49.5%) had high-quality standardised family history available. Within this group, 73 (8.4%) participants had an increased family history risk of cancer (increased FH risk cohort) and 1 in 7 participants (n = 10/73) carried a clinically actionable variant inferring a sixfold increase compared with 1 in 47 participants (n = 17/793) assessed at average family history cancer risk (average FH risk cohort) (p = 0.00001) and a sevenfold increase compared to 1 in 52 participants (n = 17/884) where family history was not available (FH not available cohort) (p = 0.00001). The enrichment was further pronounced (up to 18-fold) when assessing only the 25 cancer genes in the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes. Furthermore, 63 (7.3%) participants had an increased family history cancer risk in the absence of an apparent clinically actionable variant. Conclusions These findings demonstrate that the collection and analysis of comprehensive family history and genomic data are complementary and in combination can prioritise individuals for genomic analysis. Thus, family history remains a critical component of health risk assessment, providing important actionable data when implementing genomics screening programs. Trial registration ClinicalTrials.gov NCT02791152. Retrospectively registered on May 31, 2016.

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Markers of disease severity and positive family history are associated to significant risk perception in rheumatoid arthritis, while compliance with therapy is not: a cross-sectional study in 415 Mexican outpatients

Arthritis Research & Therapy ◽

10.1186/s13075-021-02440-y ◽

2021 ◽

Vol 23 (1) ◽

Author(s):

Irazú Contreras-Yáñez ◽

Pilar Lavielle ◽

Patricia Clark ◽

Virginia Pascual-Ramos

Keyword(s):

Rheumatoid Arthritis ◽

Regression Analysis ◽

Risk Perception ◽

Family History ◽

Disease Activity ◽

Short Form ◽

Demographic Data ◽

Multiple Logistic Regression Analysis ◽

Positive Family History ◽

Significant Risk

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.

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Differential expression of micro RNA-29 family in non-diabetic adults of diabetic and non-diabetic parents

BMC Research Notes ◽

10.1186/s13104-021-05703-8 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Uzair Abbas ◽

Bushra Imdad ◽

Sikander Adil Mughal ◽

Israr Ahmed Baloch ◽

Afshan Mehboob Khan ◽

...

Keyword(s):

Type 2 Diabetes ◽

Family History ◽

Positive Family History ◽

Cross Sectional Study ◽

Vital Role ◽

Micro Rna ◽

Cross Sectional ◽

Family History Of Diabetes ◽

History Of

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).

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A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

The Canadian Journal of Psychiatry ◽

10.1177/070674379804300405 ◽

1998 ◽

Vol 43 (4) ◽

pp. 375-380 ◽

Cited By ~ 17

Author(s):

Mary Jane Esplen ◽

Brenda Toner ◽

Jonathan Hunter ◽

Gordon Glendon ◽

Kate Butler ◽

...

Keyword(s):

Breast Cancer ◽

At Risk ◽

Family History ◽

Group Therapy ◽

Perceived Risk ◽

Positive Family History ◽

Risk Information ◽

Degree Relative ◽

Therapy Approach ◽

History Of

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.

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