scholarly journals A Fatal Case of Cor Pulmonale with Undetected Chronic Hypoventilation in an Infant with a Known Congenital Myopathy

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
John M. Holst ◽  
Mary J. Willis
Keyword(s):  
Family History ◽  
Ventricular Hypertrophy ◽  
Fatal Case ◽  
Cor Pulmonale ◽  
Congenital Myopathy ◽  
Cardiac Monitoring ◽  
History Of Disease ◽  
Exact Etiology ◽  
History Of ◽  
Fatal Complications

The authors of this paper wish to present a case of fatal cor pulmonale with right ventricular hypertrophy complicated by a congenital myopathy. It is our intention to demonstrate the importance of vigilant clinical assessment of children with a congenital myopathy, regardless of the exact etiology of their disease, or family history of disease severity. This case highlights the risk for fatal complications if hypoventilation and respiratory insufficiency go unrecognized in myopathic children. Consequently, we recommend respiratory and cardiac monitoring surveillance as well as appropriate referral to specialists in the management of such children.

scholarly journals Analysis of pulmonary features and treatment approaches in the COPA syndrome

2018 ◽  
Vol 4 (2) ◽  
pp. 00017-2018 ◽  
Author(s):  
Jessica L. Tsui ◽  
Oscar A. Estrada ◽  
Zimu Deng ◽  
Kristin M. Wang ◽  
Christopher S. Law ◽  
...  
Keyword(s):  
Family History ◽  
Lung Disease ◽  
Alveolar Haemorrhage ◽  
Diffuse Alveolar Haemorrhage ◽  
Diffuse Parenchymal Lung Disease ◽  
History Of Disease ◽  
History Of ◽  
Parenchymal Lung Disease ◽  
Copa Syndrome ◽  
Parenchymal Lung

The COPA syndrome is a monogenic, autoimmune lung and joint disorder first identified in 2015. This study sought to define the main pulmonary features of the COPA syndrome in an international cohort of patients, analyse patient responses to treatment and highlight when genetic testing should be considered.We established a cohort of subjects (N=14) with COPA syndrome seen at multiple centres including the University of California, San Francisco, CA, USA. All subjects had one of the previously established mutations in the COPA gene, and had clinically apparent lung disease and arthritis. We analysed cohort characteristics using descriptive statistics.All subjects manifested symptoms before the age of 12 years, had a family history of disease, and developed diffuse parenchymal lung disease and arthritis. 50% had diffuse alveolar haemorrhage. The most common pulmonary findings included cysts on chest computed tomography and evidence of follicular bronchiolitis on lung biopsy. All subjects were positive for anti-neutrophil cytoplasmic antibody, anti-nuclear antibody or both and 71% of subjects had rheumatoid factor positivity. All subjects received immunosuppressive therapy.COPA syndrome is an autoimmune disorder defined by diffuse parenchymal lung disease and arthritis. We analysed an international cohort of subjects with genetically confirmed COPA syndrome and found that common pulmonary features included cysts, follicular bronchiolitis and diffuse alveolar haemorrhage. Common extrapulmonary features included early age of onset, family history of disease, autoantibody positivity and arthritis. Longitudinal data demonstrated improvement on chest radiology but an overall decline in pulmonary function despite chronic treatment.

scholarly journals Family History–Wide Association Study to Identify Clinical and Environmental Risk Factors for Common Chronic Diseases

2019 ◽  
Vol 188 (8) ◽  
pp. 1563-1568
Author(s):  
Danielle Rasooly ◽  
John P A Ioannidis ◽  
Muin J Khoury ◽  
Chirag J Patel
Keyword(s):  
Family History ◽  
Association Study ◽  
Chronic Diseases ◽  
Quantitative Traits ◽  
Disease Risk ◽  
Family History Of Diabetes ◽  
Health And Nutrition ◽  
Increased Risk ◽  
History Of Disease ◽  
History Of

Abstract Family history is a strong risk factor for many common chronic diseases and summarizes shared environmental and genetic risk, but how this increased risk is mediated is unknown. We developed a “family history–wide association study” (FamWAS) to systematically and comprehensively test clinical and environmental quantitative traits (CEQTs) for their association with family history of disease. We implemented our method on 457 CEQTs for association with family history of diabetes, asthma, and coronary heart disease (CHD) in 42,940 adults spanning 8 waves of the 1999–2014 US National Health and Nutrition Examination Survey. We conducted pooled analyses of the 8 survey waves and analyzed trait associations using survey-weighted logistic regression. We identified 172 (37.6% of total), 32 (7.0%), and 78 (17.1%) CEQTs associated with family history of diabetes, asthma, and CHD, respectively, in subcohorts of individuals without the respective disease. Twenty associated CEQTs were shared across family history of diabetes, asthma, and CHD, far more than expected by chance. FamWAS can examine traits not previously studied in association with family history and uncover trait overlap, highlighting a putative shared mechanism by which family history influences disease risk.

The role of family history of disease and personal morbidity in eating behavior

1992 ◽  
Vol 7 (1) ◽  
pp. 3-14 ◽  
Author(s):  
Reinhard Fuchs ◽  
Richard M. Levinson ◽  
Gregory W. Heath ◽  
Frances C. Wheeler
Keyword(s):  
Family History ◽  
Eating Behavior ◽  
History Of Disease ◽  
History Of

scholarly journals Combining case-control status and family history of disease increases association power

2019 ◽  
Author(s):  
Margaux L.A. Hujoel ◽  
Steven Gazal ◽  
Po-Ru Loh ◽  
Nick Patterson ◽  
Alkes L. Price
Keyword(s):  
Family History ◽  
Linear Regression ◽  
Threshold Model ◽  
Association Studies ◽  
Case Control ◽  
Posterior Mean ◽  
Genome Wide ◽  
History Of Disease ◽  
History Of ◽  
Control Association

AbstractFamily history of disease can provide valuable information about an individual’s genetic liability for disease in case-control association studies, but it is currently unclear how to best combine case-control status and family history of disease. We developed a new association method based on posterior mean genetic liabilities under a liability threshold model, conditional on both case-control status and family history (LT-FH); association statistics are computed via linear regression of genotypes and posterior mean genetic liabilities, equivalent to a score test. We applied LT-FH to 12 diseases from the UK Biobank (average N=350K). We compared LT-FH to genome-wide association without using family history (GWAS) and a previous proxy-based method for incorporating family history (GWAX). LT-FH was +63% (s.e. 6%) more powerful than GWAS and +36% (s.e. 4%) more powerful than the trait-specific maximum of GWAS and GWAX, based on the number of independent genome-wide significant loci detected across all diseases (e.g. 690 independent loci for LT-FH vs. 423 for GWAS); the second best method was GWAX for lower-prevalence diseases and GWAS for higher-prevalence diseases, consistent with simulations. We also confirmed that LT-FH was well-calibrated (assessed via stratified LD score regression attenuation ratio), consistent with simulations. When using BOLT-LMM (instead of linear regression) to compute association statistics for all three methods (increasing the power of each method), LT-FH was +67% (s.e. 6%) more powerful than GWAS and +39% (s.e. 4%) more powerful than the trait-specific maximum of GWAS and GWAX. In summary, LT-FH greatly increases association power in case-control association studies when family history of disease is available.

scholarly journals POLA KONSUMSI PANGAN, AKTIVITAS FISIK, RIWAYAT PENYAKIT, RIWAYAT DEMENSIA KELUARGA, DAN KEJADIAN DEMENSIA PADA LANSIA DI PANTI WERDHA TRESNA BOGOR

2014 ◽  
Vol 8 (2) ◽  
pp. 129
Author(s):  
Chairunnisa Utami Pratiwi ◽  
Sri Anna Marliyati ◽  
Melly Latifah
Keyword(s):  
Physical Activity ◽  
Family History ◽  
Vitamin B1 ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
History Of Disease ◽  
History Of ◽  
Education Adequacy ◽  
Disease Family ◽  
Incidence Of Dementia

<p>The objective of this study were to analyze the patterns of food consumption, physical activity, history of disease, family history of dementia, and incidence of dementia in elderly in Werdha Tresna, nursing home, Bogor. Research design was cross sectional study with 42 elderly as subjects. The results showed that there were significant correlation between the level of education, adequacy of level vitamin A, vitamin B1, vitamin B2, vitamin B6, vitamin C, history of diabetes and physical activity with incidence of dementia in elderly (p&lt;0.05). There were no significant correlation between age, adequacy of level folic acid, history of hypertension, and family history of dementia with incidence of dementia in elderly (p&gt;0.05).<br /><br /></p>

scholarly journals Incorporating family history of disease improves polygenic risk scores in diverse populations

2021 ◽  
Author(s):  
Margaux L.A. Hujoel ◽  
Po-Ru Loh ◽  
Benjamin M. Neale ◽  
Alkes L. Price
Keyword(s):  
Family History ◽  
Threshold Model ◽  
South Asians ◽  
Target Population ◽  
Risk Scores ◽  
Diverse Populations ◽  
Polygenic Risk ◽  
History Of Disease ◽  
History Of ◽  
Large Improvement

AbstractPolygenic risk scores derived from genotype data (PRS) and family history of disease (FH) both provide valuable information for predicting disease risk, enhancing prospects for clinical utility. PRS perform poorly when applied to diverse populations, but FH does not suffer this limitation. Here, we explore methods for combining both types of information (PRS-FH). We analyzed 10 complex diseases from the UK Biobank for which family history (parental and sibling history) was available for most target samples. PRS were trained using all British individuals (N=409K), and target samples consisted of unrelated non-British Europeans (N=42K), South Asians (N=7K), or Africans (N=7K). We evaluated PRS, FH, and PRS-FH using liability-scale R2, focusing on three well-powered diseases (type 2 diabetes, hypertension, depression) with R2 > 0.05 for PRS and/or FH in each target population. Averaging across these three diseases, PRS attained average prediction R2 of 5.8%, 4.0%, and 0.53% in non-British Europeans, South Asians, and Africans, confirming poor cross-population transferability. In contrast, PRS-FH attained average prediction R2 of 13%, 12%, and 10%, respectively, representing a large improvement in Europeans and an extremely large improvement in Africans; for each disease and each target population, the improvement was highly statistically significant. PRS-FH methods based on a logistic model and a liability threshold model performed similarly when covariates were not included in predictions (consistent with simulations), but the logistic model outperformed the liability threshold model when covariates were included. In conclusion, including family history greatly improves the accuracy of polygenic risk scores, particularly in diverse populations.

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