Isolated Cecal Diverticulitis in a Non-Asian Patient With Strong Family History of Colon Adenocarcinoma

2020 ◽  
pp. 000313482097371
Author(s):  
Reynold Henry ◽  
Benjamin Tam ◽  
Nicholas Serniak ◽  
Glenn Ault
Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 430
Author(s):  
Steven R. Bentley ◽  
Ilaria Guella ◽  
Holly E. Sherman ◽  
Hannah M. Neuendorf ◽  
Alex M. Sykes ◽  
...  

Parkinson’s disease (PD) is typically sporadic; however, multi-incident families provide a powerful platform to discover novel genetic forms of disease. Their identification supports deciphering molecular processes leading to disease and may inform of new therapeutic targets. The LRRK2 p.G2019S mutation causes PD in 42.5–68% of carriers by the age of 80 years. We hypothesise similarly intermediately penetrant mutations may present in multi-incident families with a generally strong family history of disease. We have analysed six multiplex families for missense variants using whole exome sequencing to find 32 rare heterozygous mutations shared amongst affected members. Included in these mutations was the KCNJ15 p.R28C variant, identified in five affected members of the same family, two elderly unaffected members of the same family, and two unrelated PD cases. Additionally, the SIPA1L1 p.R236Q variant was identified in three related affected members and an unrelated familial case. While the evidence presented here is not sufficient to assign causality to these rare variants, it does provide novel candidates for hypothesis testing in other modestly sized families with a strong family history. Future analysis will include characterisation of functional consequences and assessment of carriers in other familial cases.


BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Olivia Moran ◽  
Andrea Eisen ◽  
Rochelle Demsky ◽  
Kristina Blackmore ◽  
Julia A. Knight ◽  
...  

Abstract Background Mammographic density is one of the strongest risk factors for breast cancer. In the general population, mammographic density can be modified by various exposures; whether this is true for women a strong family history is not known. Thus, we evaluated the association between reproductive, hormonal, and lifestyle risk factors and mammographic density among women with a strong family history of breast cancer but no BRCA1 or BRCA2 mutation. Methods We included 97 premenopausal and 59 postmenopausal women (age range: 27-68 years). Risk factor data was extracted from the research questionnaire closest in time to the mammogram performed nearest to enrollment. The Cumulus software was used to measure percent density, dense area, and non-dense area for each mammogram. Multivariate generalized linear models were used to evaluate the relationships between breast cancer risk factors and measures of mammographic density, adjusting for relevant covariates. Results Among premenopausal women, those who had two live births had a mean percent density of 28.8% vs. 41.6% among women who had one live birth (P=0.04). Women with a high body weight had a lower mean percent density compared to women with a low body weight among premenopausal (17.6% vs. 33.2%; P=0.0006) and postmenopausal women (8.7% vs. 14.7%; P=0.04). Among premenopausal women, those who smoked for 14 years or longer had a lower mean dense area compared to women who smoked for a shorter duration (25.3cm2 vs. 53.1cm2; P=0.002). Among postmenopausal women, former smokers had a higher mean percent density (19.5% vs. 10.8%; P=0.003) and dense area (26.9% vs. 16.4%; P=0.01) compared to never smokers. After applying the Bonferroni correction, the association between body weight and percent density among premenopausal women remained statistically significant. Conclusions In this cohort of women with a strong family history of breast cancer, body weight was associated with mammographic density. These findings suggest that mammographic density may explain the underlying relationship between some of these risk factors and breast cancer risk, and lend support for the inclusion of mammographic density into risk prediction models.


2004 ◽  
Vol 15 (6) ◽  
pp. 497-502 ◽  
Author(s):  
Daniel M Robinson ◽  
Christian Schwahn ◽  
Dietrich Alte ◽  
Ulrich John ◽  
Stephan B Felix ◽  
...  

1993 ◽  
Vol 80 (2) ◽  
pp. 249-251 ◽  
Author(s):  
P. S. Rooney ◽  
M. H. E. Robinson ◽  
P. A. Clarke ◽  
J. D. Hardcastle ◽  
N. C. Armitage

1985 ◽  
Vol 108 (4) ◽  
pp. 491-497 ◽  
Author(s):  
P. M. Bell ◽  
D. G. Sinnamon ◽  
P. P. A. Smyth ◽  
H. A. Drexhage ◽  
M. Haire ◽  
...  

Abstract. A 37 year old male with a strong family history of autoimmune disease presented with typical symptoms of hyperthyroidism. He had exophthalmos but no goitre. Hyperthyroidism was confirmed by failure of 131I neck uptake to suppress after 7 days treatment with triiodothyronine. Six years previously a diagnosis of primary hypothyroidism has been made. At diagnosis of hyperthyroidism, thyroglobulin antibodies, thyroidal microsomal antibodies and thyroid stimulating immunoglobulins were detected. The absence of thyroid growth stimulating immunoglobulins and presence of immunoglobulins blockink TSH-induced growth may account for the absence of goitre throughout. HLA -B8, -B, -DR3 and -DR4 genotypes, low C4 complement cocentrations and islet cell autoantibodies were detected at the time of diagnosis and 1 year later diabetes mellitus developed.


2008 ◽  
Vol 32 (6) ◽  
pp. 943-948 ◽  
Author(s):  
A Viardot ◽  
L K Heilbronn ◽  
H Herzog ◽  
S Gregersen ◽  
L V Campbell

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