Lynch-like syndrome in endometrial cancer: Features of a growing population.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 5585-5585
Author(s):  
Sushmita Gordhandas ◽  
Ryan Kahn ◽  
Brandon Paul Maddy ◽  
Becky Baltich Nelson ◽  
Gulce Askin ◽  
...  

5585 Background: Current guidelines recommend screening all endometrial cancers (EC) and colorectal cancers (CRC) for defects in DNA mismatch repair (MMR). Tumor screening combined with germline genetic testing can categorize patients into three groups: intact-MMR, Lynch syndrome (LS), and Lynch-like syndrome (LLS). Our objective was to describe features of the growing population of patients with LLS in EC and compare to existing CRC literature. Methods: A systematic search of databases between 1990-2018 identified studies of EC patients with tumor testing (MMR immunohistochemistry or microsatellite instability) and germline assessment for LS. Data on clinicopathologic features was abstracted when available. Associations between LS, LLS, and intact-MMR were analyzed using descriptive statistics. Results: The comprehensive search produced 3,427 publications; 29 met inclusion criteria. Abstracted data and features of each group are presented in the table. Conclusions: In EC, LLS closely resembles LS with younger age at diagnosis, more advanced stage and higher grade as compared to patients with intact-MMR. LLS in EC is similar to intact-MMR in regard to histology, and family history of LS-associated cancer. The CRC literature is limited, but reports LS and LLS have similar stage, grade and histology. In CRC, LS and LLS are diagnosed at a younger age, and are more likely to have family history of LS-associated cancers than intact-MMR. Features of EC with intact-MMR, LLS, and LS. [Table: see text]

2020 ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj

Abstract Background. Premature coronary artery disease belongs to the most pressing global issues in a modern cardiology. Family history appears to be one of the most important and significant risk factors in young patients with myocardial infarction (MI). The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients <50 years with myocardial infarction (MI) compared to patients ≥ 50 years with MI and to young healthy people.Methods. The studied group (MI<50) consisted of 240 patients aged 26-49 years with MI. The control groups consisted of 240 patients (MI≥50) with MI aged 50-92 years and 240 healthy people aged 30-49 years.Results. There were statistically significant differences between the MI<50 and MI≥50 and young healthy groups regarding family history of premature MI/ischaemic stroke and percent of patients with of ≥2 relatives affected including parents, children, siblings, siblings of parents and grandparents (10.8%, 2.9%, 3.7%, respectively; p<0.0001). There was a statistically significant negative correlation between the age of the first episode of MI and the number of relatives with a history of premature MI/stroke (r=0.249, p<0.05) within all MI patients. Statistically significant differences between MI<50 and MI≥50 groups as well as young healthy control group were revealed regarding prevalence of smoking, body mass index (BMI), LDL, HDL, triglycerides (TG) and glucose levels.Conclusions. Younger age of patients with myocardial infarction correlates with a higher number of relatives with a history of premature MI/ischemic stroke. Thus, the family history of premature atherosclerosis involving not only the first-, but also the second-degree relatives, seems to be valuable and could be considered in an individual CVD risk evaluation in young people.


2020 ◽  
Vol 59 (8) ◽  
pp. 773-777
Author(s):  
John T. Gaffney ◽  
John Spellman

A hip click on examination of the newborn hip is believed to be the result of a ligament or myofascial structure and thought to be benign. Some studies suggest a link between hip clicks and developmental dysplasia of the hip. The purpose of our study is to estimate the prevalence of ultrasound hip abnormalities in newborns with a hip click and an otherwise normal physical examination. Results. Ninety patients meeting inclusion criteria of a hip click with an otherwise normal physical examination underwent diagnostic ultrasound with a 17.8% prevalence of hip abnormalities found (95% confidence interval ±7.9% [range of 9.9% to 25.7%]). Our study had 64 (71%) females and 26 (29%) males. The prevalence of hip pathology for females was 18.8% (12 of 64 patients) and for males was 15.4% (4 of 26 patients). Thirty-three patients were found to have bilateral hip clicks on presentation, with 21.2% (7 of 33) of those patients found to have hip pathology on ultrasound (3 of the 7 had pathology of both hips). Six patients had a family history of hip dysplasia and 1 of these patients (16.7%) had pathology on ultrasound. The average age to hip sonography was 6.6 weeks. Conclusions. In all, 17.8% of newborns with a hip click were found to have hip abnormalities on ultrasound. The prevalence of hip pathology, on ultrasound, suggests that additional larger, prospective studies are needed to clarify the association between a hip click and abnormal ultrasound found at 6 weeks of age or greater.


BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Rui Wu ◽  
Cheng Yang ◽  
Lin Ji ◽  
Zhi-Ning Fan ◽  
Yu-Wen Tao ◽  
...  

Abstract Background People are at a high risk of gastric cancer if their first-degree relatives suffered from atrophic gastritis (AG), intestinal metaplasia (IM), intraepithelial neoplasia (IEN), dysplasia (DYS), or gastric cancer (GC). This study was performed to analyse the association between FDR-GC and GC precursors. Methods A cross-sectional study was performed to screen the prevalence of GC precursors from November 2016 to September 2019. A total of 1329 participants with FDR-GC, 193 participants with a family history of non-gastric cancer in FDRs (FDR-nGC), and 860 participants without a family history of cancer in FDRs (FDR-nC) were recruited in this study. The logistic regression model was used in this study. Results The prevalence of normal, Non-AG, AG/IM, IEN/DYS, and GC was 31.91, 44.21, 13.81, 8.73, and 1.34%, respectively. The prevalence of IEN/DYS was higher in people with FDR-GC and FDR-nGC (FDR-GC: odds ratio (OR) = 1.655; 95%CI, 1.153–2.376; FDR-nGC: OR = 1.984; 95%CI, 1.122–3.506) than those with FDR-nC. The younger the age at which FDRs were diagnosed with GC, the more likely the participants were to develop AG/IM (Ptrend = 0.019). The risk of precursors to GC was higher in participants whose FDR-GC was the mother than in those whose FDR-GC was the father or sibling (OR, non-AG: 1.312 vs. 1.007, 1.274; AG/IM: 1.430 vs. 1.296, 1.378; IEN/DYS: 1.988 vs. 1.573, 1.542). There was no statistically significant difference in non-AG (OR = 1.700; 95%CI, 0.940–3.074), AG/IM (OR = 1.291; 95%CI, 0.579–2.877), and IEN/DYS (OR = 1.265; 95%CI, 0.517–3.096) between participants with one or more FDR-GC. Conclusion People with FDR-GC and FDR-nGC are at a high risk of IEN/DYS. When an FDR was diagnosed at a younger age, the risk of AG/IM was higher. The risk of GC precursors was higher in people whose FDR-GC was the mother.


2007 ◽  
Vol 2 (2) ◽  
pp. 289-325 ◽  
Author(s):  
L. Lu ◽  
A. S. Macdonald ◽  
H. R. Waters ◽  
F. Yu

ABSTRACTHereditary nonpolyposis colorectal cancer (HNPCC) is characterised by the familial aggregation of cancer of the colon and rectum (CRC). It may be caused by any of five mutations in DNA mismatch repair (MMR) genes or by non-genetic factors, such as life style. However, it accounts for only about 2% of CRC, which is a very common cancer. Previous actuarial models, of diseases with only genetic causes, assumed that a family history of the disease shows mutations to be present, but this is not true of HNPCC. This is a significant limitation, since the best information available to an underwriter (especially if the use of genetic test results is banned) is likely to be knowledge of a family history of CRC. We present a Markov model of CRC and HNPCC, which includes the presence of a family history of CRC as a state, and estimate its intensities allowing for MMR genotype. Using this we find the MMR mutation probabilities for an insurance applicant with a family history of CRC. Our model greatly simplifies the intensive computational burden of finding such probabilities by integrating over complex models of hidden family structure. We estimate the costs of critical illness insurance given the applicant's genotype or the presence of a family history. We then consider what the cost of adverse selection might be, if insurers are unable to use genetic tests or family history information. We also consider the effect of using alternative definitions of a family history in underwriting.


Cephalalgia ◽  
2006 ◽  
Vol 26 (10) ◽  
pp. 1220-1224 ◽  
Author(s):  
JP Vieira ◽  
AB Salgueiro ◽  
M Alfaro

Short-lasting headaches have been studied infrequently in children and it is not known if the main categories of primary headaches of this type in adults are applicable to children. We report our experience with a group of 20 children with a brief headache. Two patients had a secondary headache. One patient had a headache with some clinical characteristics of paroxysmal hemicrania. The remaining 17 had a very brief headache. They were in many aspects comparable to others from previous studies on idiopathic stabbing headache in children: no associated symptoms, no other associated headache, frequent family history of migraine. They differed, however, in the younger age of the patients and the more frequent extratrigeminal location of the pain. Extratrigeminal ice-pick pain may be a variant of idiopathic stabbing headache, more prevalent in young children.


2021 ◽  
Vol 38 (1) ◽  
Author(s):  
Asim Saleem ◽  
Mubashar Zeeshan ◽  
Faryal Hazoor ◽  
Ghulam Mustafa

Objectives: To determine the extent of ulcerative colitis and associated factors in patients who underwent sigmoidoscopy at Liver Center, Jail Road, Lahore, Pakistan. Methods: In this retrospective cohort study, patients who underwent sigmoidoscopy from July 2013 to July 2020 at Liver Clinic, Jail Road, Lahore, were categorized into two cohorts: who had ulcerative colitis confirmed on histology and who had no ulcerative colitis. Extent and severity of the disease as well as coexisting pathologies were also noted. SPSS version 25 was used. Independent sample T-test was applied to compare quantitative variables like age and weight, and chi-square test to compare qualitative variables with two cohorts. The p-value less than 0.05 was opted as significant. Odd ratio with 95% confidence interval (CI) were also computed for each association. Results: About 11.55% patients (165 out of 1428) had ulcerative colitis, whose mean age and mean weight were 38.27 ± 14.15 years and 74.08 ± 13.20 Kg respectively. Among ulcerative colitis patients, 18.2% had proctitis, 22.4% had proctosigmoiditis, 27.7% had left-sided colitis, and 31.5% had extensive colitis. May endoscopic severity score was found 0,1,2, and 3 in 12.1%, 23.6%, 31.5%, and 32.7% patients respectively. Ulcerative colitis cohort had significant association with younger age (p<0.01), female gender (p<0.01), non or former smoking (p=0.02) and presentation with bloody diarrhea (p<0.01), and no association with body weight (p=0.311), presence of diabetes mellitus (p=0.311) and family history of IBD (P=0.368). Conclusion: Endoscopic extent and severity of ulcerative colitis is high in our studied population. Ulcerative colitis is more prevalent in younger age and female gender patients who presented with bloody diarrhea, while the presence of active smoking has negative association with finding the ulcerative colitis. However, presence of family history of IBD, diabetes mellitus and body weight of the patient has no statistical correlation with finding ulcerative colitis during sigmoidoscopic examination in our patients. doi: https://doi.org/10.12669/pjms.38.1.4648 How to cite this:Saleem A, Zeeshan M, Hazoor F, Mustafa G. Sigmoidoscopic extent of ulcerative colitis and associated factors in Pakistani population. Pak J Med Sci. 2022;38(1):---------. doi: https://doi.org/10.12669/pjms.38.1.4648 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


2019 ◽  
Vol 18 (2) ◽  
pp. 252-259
Author(s):  
Raihan Hassan ◽  
Maryam Mohd Zulkifli ◽  
Imran Ahmad ◽  
Siti Suhaila MohdYusoff

Introduction: Concomitant obesity and chronic medical illness is a significant health problem in Malaysia and worldwide. The comorbid psychological impact in obese patients is associated with a social stigma and low self-esteem. The aim of this study was to determine the prevalence and the factors associated with depression, anxiety and stress in obese patients with chronic medical illnesses attending an outpatient clinic. Methods: This was a cross-sectional study among obese patients with chronic medical illnesses presenting at the Universiti Sains Malaysia Hospital outpatient clinic. A total of 274 patients were involved. The 21-item Depression, Anxiety and Stress Scale questionnaire was used, and the results were evaluated using single and multiple logistic regression analyses. Results: The prevalences of depression, anxiety and stress among the obese patients with chronic medical illnesses were 13.9%, 23.4% and 10.9%, respectively. Younger age [p=0.003, adjusted odds ratio (AOR),1.0; 95%confidence interval (CI),0.91–0.98], unemployed employment(p=0.013, AOR,3.7;95% CI,1.32–10.09) and smoking (p=0.022, AOR,3.2; 95% CI,1.18–8.55) were associated with depression. No formal education (p=0.011, AOR,5.7; 95%CI,1.49–21.89), high body mass index (p=0.029, AOR,1.1;95% CI,1.01–1.13) and family history of psychiatric illness (p=0.018, AOR,5.1; 95% CI,1.33–19.56) were associated with anxiety. Stress was strongly associated with females (p=0.004, AOR,5.0; 95% CI,1.70–15.13) and smoking(p=0.002, AOR,6.5; 95% CI,2.03–20.7). Conclusion: Interestingly, younger age group was associated with depression. Current smokers, no education, family history of psychiatric illness and female sex were significantly associated with anxiety and stress. This notifies new emerging knowledge on factors associated with obese patients that would empower the development of effective preventive strategies for it. Bangladesh Journal of Medical Science Vol.18(2) 2019 p.252-259


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj

Abstract Background Premature coronary artery disease is one of the most pressing global issues in modern cardiology. The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients aged < 50 years with myocardial infarction (MI) compared to that in patients aged ≥50 years with MI and to that in young people without MI (no-MI < 50). Methods The studied group (MI < 50) consisted of 240 patients aged 26–49 years with MI. The control groups consisted of 240 patients (MI ≥ 50) with MI aged 50–92 years and 240 healthy people aged 30–49 years without a history of MI (no-MI < 50). Results There were statistically significant differences between the MI < 50 and MI ≥ 50 and no-MI < 50 groups regarding the family history of premature MI/ischaemic stroke and the percentage of patients with ≥2 relatives affected (10.8, 2.9, and 3.7%, respectively; p < 0.0001). There was a statistically significant difference in the patient age at the first MI occurrence among patients without a family history of premature CVD, those with 1 affected relative, and those with ≥2 affected first-degree relatives (56.6, 48.6 and 41.8 years, respectively) as well as those with affected first- and second-degree relatives (56.5, 50.7 and 47.0 years, respectively). Conclusions A younger age of patients with myocardial infarction is associated with a higher number of relatives with a history of premature MI/ischaemic stroke. Thus, the family history of premature atherosclerosis involving not only first- but also second-degree relatives seems to be a valuable factor in CVD risk evaluation in young people. Graphical Abstract


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