scholarly journals Esophagogastric premalignant conditions. A literature review

2020 ◽  
Vol 2 (3) ◽  
Author(s):  
Marina Troian ◽  
Carlo Nagliati ◽  
Alessandro Balani
Keyword(s):  
Risk Factors ◽  
Genetic Factors ◽  
Precancerous Lesions ◽  
P53 Protein ◽  
Premalignant Lesions ◽  
Cellular Atypia ◽  
Increased Risk ◽  
Chronic Irritation ◽  
Malignant Lesions ◽  
Premalignant Conditions

Esophagogastric cancers are serious malignancies with high mortality and low overall survival for advanced tumors. Detection of premalignant lesions and early treatment of malignant lesions are of paramount importance. Precancerous esophagogastric conditions develop from interaction between environmental and genetic factors. Chronic irritation and inflammation may result in metaplasia, increased mutations, cellular atypia, and altered function (dysplasia). Helicobacter pylori (HP) infection is one of the most important risk factors for gastric carcinogenesis, but other environmental factors (e.g. alcohol, tobacco, nitrites, infection) and autoimmune disorders play a role as well. Esophageal adenocarcinoma (EAC) usually arises in the distal esophagus and is linked to obesity, gastroesophageal reflux disease (GERD) and Barrett’s esophagus (BE). Squamous cell carcinoma (ESCC) typically occurs in the presence of risk factors causing chronic inflammation (e.g. tobacco, alcohol abuse, achalasia, tylosis). Highquality endoscopic imaging is of primary importance in the diagnosis and assessment of premalignant and early malignant esophagogastric lesions. Biological markers such as aberrant p53 protein expression may be associated with increased risk of malignant transformation of precancerous lesions; however, none of those biomarkers has been validated for either diagnosis or risk stratification yet.

Sex Differences in the Transmission of Migraine

Cephalalgia ◽  
2007 ◽  
Vol 27 (8) ◽  
pp. 935-942 ◽  
Author(s):  
NCP Low ◽  
L Cui ◽  
KR Merikangas
Keyword(s):  
Risk Factors ◽  
Sex Differences ◽  
Genetic Factors ◽  
Family Study ◽  
Family Studies ◽  
Increased Risk ◽  
Using Data ◽  
Differential Risk

Consistent evidence demonstrates that migraine is far more common in women than in men, but the explanations for this preponderance have not been systematically evaluated. We examined whether the female preponderance is attributable to genetic factors using data from a controlled family study which included 260 probands and their 1232 first-degree adult relatives. We found that although the risk of migraine was three times greater among the relatives of probands with migraine compared with controls, there was no differential risk of migraine among the relatives of male vs. female probands with migraine. Taking these data together with other family studies, we conclude that the increased risk of migraine in females is likely to result from increased exposure to non-familial endogenous or exogenous risk factors for migraine that lower the threshold for expression of migraine in women.

scholarly journals 9p21 and the Genetic Revolution for Coronary Artery Disease

2012 ◽  
Vol 58 (1) ◽  
pp. 104-112 ◽  
Author(s):  
Robert Roberts ◽  
Alexandre F R Stewart
Keyword(s):  
Risk Factors ◽  
Coronary Artery Disease ◽  
Risk Factor ◽  
Genetic Testing ◽  
Coronary Artery ◽  
Genetic Variants ◽  
Genetic Factors ◽  
Genomic Study ◽  
Increased Risk ◽  
Artery Disease

Abstract BACKGROUND It has long been recognized that 50% of the susceptibility for coronary artery disease (CAD) is due to predisposing genetic factors. Comprehensive prevention is likely to require knowledge of these genetic factors. CONTENT Using a genomewide association study (GWAS), the Ottawa Heart Genomic Study and the deCODE group simultaneously identified the first genetic risk variant, at chromosome 9p21. The 9p21 variant became the first risk factor to be identified since 1964. 9p21 occurs in 75% of the population except for African Americans and is associated with a 25% increased risk for CAD with 1 copy and a 50% increased risk with 2 copies. Perhaps the most remarkable finding is that 9p21 is independent of all known risk factors, indicating there are factors contributing to the pathogenesis of CAD that are yet unknown. 9p21 in individuals with premature CAD is associated with a 2-fold increase in risk, similar to that of smoking and cholesterol. Routine genetic testing will probably remain controversial until a specific treatment is developed. Over a period of 5 years, however, GWASs have identified 30 genetic variants for CAD risk, of which only 6 act through the known risk factors. SUMMARY The 9p21 variant has now been established as an independent risk factor for CAD and, along with the additional 29 risk genetic variants recently identified, is likely to provide the thrust for genetic testing and personalized medicine in the near future.

scholarly journals Prediction of primary venous thromboembolism based on clinical and genetic factors within the U.K. Biobank

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
David A. Kolin ◽  
Scott Kulm ◽  
Olivier Elemento
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
Risk Score ◽  
Genetic Risk ◽  
Genetic Factors ◽  
External Validation ◽  
Predictive Score ◽  
Polygenic Risk Score ◽  
Genetic Components ◽  
Increased Risk

AbstractBoth clinical and genetic factors drive the risk of venous thromboembolism. However, whether clinically recorded risk factors and genetic variants can be combined into a clinically applicable predictive score remains unknown. Using Cox proportional-hazard models, we analyzed the association of risk factors with the likelihood of venous thromboembolism in U.K. Biobank, a large prospective cohort. We then created a polygenic risk score of 36 single nucleotide polymorphisms and a clinical score determined by age, sex, body mass index, previous cancer diagnosis, smoking status, and fracture in the last 5 years. Participants were at significantly increased risk of venous thromboembolism if they were at high clinical risk (subhazard ratio, 4.37 [95% CI, 3.85–4.97]) or high genetic risk (subhazard ratio, 3.02 [95% CI, 2.63–3.47]) relative to participants at low clinical or genetic risk, respectively. The combined model, consisting of clinical and genetic components, was significantly better than either the clinical or the genetic model alone (P < 0.001). Participants at high risk in the combined score had nearly an eightfold increased risk of venous thromboembolism relative to participants at low risk (subhazard ratio, 7.51 [95% CI, 6.28–8.98]). This risk score can be used to guide decisions regarding venous thromboembolism prophylaxis, although external validation is needed.

scholarly journals Expression OF p16INK4a Gene in Premalignant and Malignant Lesions of Oral Cavity

2021 ◽  
pp. 53-62
Author(s):  
R. Vijay David Raj ◽  
S. Marylilly
Keyword(s):  
Risk Factors ◽  
Squamous Cell Carcinoma ◽  
Oral Cavity ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Malignant Lesion ◽  
Malignant Neoplasm ◽  
Premalignant Lesions ◽  
Group I ◽  
Malignant Lesions

Squamous cell carcinoma is the summits malignant neoplasm of the oral cavity. Tobacco and alcohol is identified as risk factors, but squamous cell carcinoma can occur in patients with no known risk factors. Oral cancer is the sixth most common malignancy and is one of the major causes of cancer morbidity and mortality worldwide. Cancer is caused due to a series of alteration in genetic and epigenetic factors that occur in multiple steps and is influenced by the genetic predisposition of the individual and by exogenous environmental factors. These factors result in a series of molecular alteration, including inactivation of tumor suppressor genes expression of p16 has been proposed as a marker for malignant transformation. The p16 staining was correlated between the control and study groups and p 16 was shown to be increasing expressed in premalignant and less expressed in malignant category and was found to be statistically significant by Fischer’s exact test. This study concluded that p16 was increasingly expressed in premalignant lesions and less expressed in malignant lesion. In the present study 9 of the control cases were p16 negative and one case showed sporadic staining. The study group I showed 1 case of sporadic staining, 6 cases of focal staining and 8 cases of diffuse staining. The study II showed 14 cases of sporadic staining, 6 cases of focal staining and 5 cases of diffuse staining. Hence variations cannot be accurately assessed, but it plays a crucial role in assessing pre-malignant lesions progressing to malignancy. To confirm this, a larger sample study is required. As advances in research have leads to greater understanding of potentially malignant lesions in the oral cavity.

PREVALENCE OF SPINK 1 AND CASR GENE MUTATIONS IN ACUTE AND RECURRENT ACUTE PANCREATITIS : A STUDY FROM CENTRAL INDIA

2021 ◽  
pp. 62-65
Author(s):  
Mohd Talha Noor ◽  
Rahul Sudan ◽  
Vipin Goyal ◽  
Susmit Kosta ◽  
Ravindra Kumar ◽  
...  
Keyword(s):  
Risk Factors ◽  
Acute Pancreatitis ◽  
Gene Mutation ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Recurrent Acute Pancreatitis ◽  
Casr Gene ◽  
Increased Risk ◽  
Spink 1

Background: Genetic factors may play an important role in the pathogenesis of acute pancreatitis. It has been observed in various studies that the presence of risk factors alone like alcohol abuse or gall bladder stones does not lead to attacks of pancreatitis in all the patients. This leads to assumption that genetic factors may decrease the threshold for the development of pancreatitis in presence of one or more risk factors. We observed that there is a paucity of data regarding the role of genetics in acute pancreatitis (AP) and recurrent acute pancreatitis (RAP) in our part of the world and we aimed at studying the prevalence of genetic mutations in such patients. Methods: Our study intended to nd the prevalence of SPINK1 N34S (Serine protease inhibitor kazal type 1) and CaSR (Calcium sensing receptor) gene mutations in patients of AP and RAP. A total of 50 patients and 25 age and gender matched controls entered our study. Blood samples were obtained from all the cases and controls for routine investigations and genetic analysis. SPINK 1 N34S and CaSR gene mutation studies were done in all the patients and controls. Results: Alcohol (64%) followed by gallbladder stone disease (20%) was the most common aetiology of pancreatitis. SPINK 1 N34S mutation was present in 21 patients and 2 controls whereas CaSR gene mutation was present in 13 patients and 2 controls. Patients with SPINK 1 N34S and CaSR gene mutations were younger than the patients without these mutations. Prevalence of both SPINK1 N34S and CaSR gene mutations was higher in patients of RAP than AP. These mutations were not associated with aetiology or severity of pancreatitis. Conclusion: The prevalence SPINK 1 N34S and CaSR gene mutations was higher in patients of AP and RAP. Identication of these mutations in patients of AP can help in the identication of patients who are at increased risk of recurrent attacks of AP

scholarly journals Premalignant and Malignant Skin Lesions in Two Recipients of Vascularized Composite Tissue Allografts (Face, Hands)

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Jean Kanitakis ◽  
Palmina Petruzzo ◽  
Aram Gazarian ◽  
Sylvie Testelin ◽  
Bernard Devauchelle ◽  
...  
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Immunosuppressive Treatment ◽  
Premalignant Lesions ◽  
Solid Organ ◽  
Composite Tissue ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Increased Risk ◽  
Malignant Lesions

Recipients of solid organ transplants (RSOT) have a highly increased risk for developing cutaneous premalignant and malignant lesions, favored by the lifelong immunosuppression. Vascularized composite tissue allografts (VCA) have been introduced recently, and relevant data are sparse. Two patients with skin cancers (one with basal cell carcinoma and one with squamous cell carcinomas) have been so far reported in this patient group. Since 2000 we have been following 9 recipients of VCA (3 face, 6 bilateral hands) for the development of rejection and complications of the immunosuppressive treatment. Among the 9 patients, one face-grafted recipient was diagnosed with nodular-pigmented basal cell carcinoma of her own facial skin 6 years after graft, and one patient with double hand allografts developed disseminated superficial actinic porokeratosis, a potentially premalignant dermatosis, on her skin of the arm and legs. Similar to RSOT, recipients of VCA are prone to develop cutaneous premalignant and malignant lesions. Prevention should be applied through sun-protective measures, regular skin examination, and early treatment of premalignant lesions.

scholarly journals Premalignant and malignant lesions in endometrial polyps in patients undergoing hysteroscopic polypectomy

2014 ◽  
Vol 12 (1) ◽  
pp. 16-21 ◽  
Author(s):  
Marco Antonio Lenci ◽  
Vanessa Alessandra Lui do Nascimento ◽  
Ana Beatriz Grandini ◽  
Walid Makin Fahmy ◽  
Daniella de Batista Depes ◽  
...  
Keyword(s):  
Postmenopausal Women ◽  
Histopathological Examination ◽  
Transvaginal Ultrasound ◽  
Abnormal Uterine Bleeding ◽  
Uterine Bleeding ◽  
Premalignant Lesions ◽  
Endometrial Polyps ◽  
Menstrual Status ◽  
Cellular Atypia ◽  
Malignant Lesions

Objective : To evaluate the incidence of premalignant lesions and cancer in endometrial polyps, in patients undergoing hysteroscopic polypectomy. Methods : The results of 1,020 pathological examinations of patients submitted to hysteroscopic polypectomy were analyzed, as well as their diagnostic and surgical hysteroscopy findings. As to their menstrual status, 295 (28.9%) patients were in menacme. Of the total, 193 (65.4%) presented abnormal uterine bleeding, and 102 (34.6%) were asymptomatic with altered endometrial echo on transvaginal ultrasound. Out of 725 (71.1%) postmenopausal patients, 171 (23.6%) were symptomatic (abnormal uterine bleeding), and 554 (76.4%) were asymptomatic with endometrial echo >5.0mm. Results : Twenty-one (2.0%) patients presented premalignant lesions in the polyps, 13 had simple glandular hyperplasia, of which 5 had no atypia, and eight presented atypia. Eight polyps presented focal area of complex hyperplasia: 4 with atypia and 4 without lesions. Cancer was diagnosed in 5 (0.5%) polyps. Of the 21 polyps that harbored premalignant lesions, 12 were interpreted as benign in diagnostic and surgical hysteroscopy. Of the polyps with cancer, 4 were also histeroscopically interpreted as normal. Conclusion : Symptomatic polyps in menacme and in all postmenopausal women should be resected and submitted to histopathological examination, since they may have a benign aspect, even when harboring areas of cellular atypia or cancer.

scholarly journals Prediction of Venous Thromboembolism Based on Clinical and Genetic Factors

2020 ◽  
Author(s):  
David A. Kolin ◽  
Scott Kulm ◽  
Olivier Elemento
Keyword(s):  
Risk Factors ◽  
Venous Thromboembolism ◽  
High Risk ◽  
Genetic Risk ◽  
Genetic Factors ◽  
Hazard Ratio ◽  
Low Risk ◽  
Clinical Risk Factors ◽  
Clinical Risk ◽  
Increased Risk

BACKGROUNDBoth clinical and genetic factors drive the risk of venous thromboembolism. However, whether clinically recorded risk factors and genetic variants can be combined into a clinically applicable predictive score remains unknown.METHODSUsing Cox proportional-hazard models, we analyzed the association of risk factors with the likelihood of venous thromboembolism in U.K. Biobank, a large prospective cohort. We created a novel ten point clinical score using seven established clinical risk factors for venous thromboembolism. We also generated a polygenic risk score of 21 single nucleotide polymorphisms to quantify genetic risk. The genetic score was categorized into high risk (top two deciles of scores), intermediate risk (deciles three to eight), and low risk (lowest two deciles). The discrete clinical score led to the following approximate decile categorizations: high risk (5 to 10 points), intermediate risk (3 to 4 points), and low risk (0 to 2 points).RESULTSAmongst the 502,536 participants in the U.K. Biobank, there were 4,843 events of venous thromboembolism. Analyses of established clinical risk factors and the most commonly used medications revealed that participants were at decreased risk of venous thromboembolism if they had ever used oral contraceptive pills (hazard ratio, 0.88; 95% confidence interval [CI], 0.79 to 0.99) or if they currently used bendroflumethiazide (hazard ratio, 0.84; 95% CI, 0.74 to 0.95), cod liver oil capsules (hazard ratio, 0.87; 95% CI, 0.77 to 0.99), or atenolol (hazard ratio, 0.79; 95% CI, 0.68 to 0.91). Participants were at significantly increased risk of venous thromboembolism if they were at high clinical risk (hazard ratio, 5.98; 95% CI, 5.43 to 6.59) or high genetic risk (hazard ratio, 2.28; 95% CI, 2.07 to 2.51) relative to participants at low clinical or genetic risk, respectively. Combining clinical risk factors with genetic risk factors produced a model that better predicted risk of venous thromboembolism than either model alone (P<0.001). Participants at high clinical and genetic risk in the combined score had over an eightfold increased risk of venous thromboembolism relative to participants at low risk (hazard ratio, 8.27; 95% CI 7.59 to 9.00).CONCLUSIONSBy assessing venous thromboembolic events in over 500,000 participants, we identified several known and novel associations between risk factors and venous thromboembolism. Participants in the high risk group of a combined score, consisting of clinical and genetic factors, were over eight times more likely to experience venous thromboembolism than participants in the low risk group.

Self-harm

2020 ◽  
pp. 1289-1295
Author(s):  
Nav Kapur ◽  
Sarah Steeg ◽  
Adam Moreton
Keyword(s):  
Risk Factors ◽  
Young People ◽  
Health Services ◽  
Predictive Value ◽  
Suicidal Behaviour ◽  
Genetic Factors ◽  
Lifetime Prevalence ◽  
Self Injury ◽  
Increased Risk ◽  
Self Harm

Self-harm—mainly self-poisoning and self-injury—is an important cause of presentation to health services internationally. The annual incidence worldwide is likely to be in the region of 4 per 1000 adults, with a lifetime prevalence of between 3% and 5% in Western countries. Self-harm is more common in young people and more common in girls than boys. Self-harm has a complex aetiology, with sociodemographic, clinical, environmental, and genetic factors all contributing. It is associated with a greatly increased risk of suicide and death by other causes—1 in 50 people die by suicide in the year after hospital presentation for self-harm. Models of suicidal behaviour may help us to understand how different risk factors link together, but risk scales are unlikely to be useful in practice because of their limited predictive value.

scholarly journals Blastomycosis in Missouri: epidemiology and risk factors for endemic disease

2003 ◽  
Vol 131 (2) ◽  
pp. 907-914 ◽  
Author(s):  
M. V. CANO ◽  
G. F. PONCE-DE-LEON ◽  
S. TIPPEN ◽  
M. D. LINDSLEY ◽  
M. WARWICK ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Factors ◽  
Case Control Study ◽  
Case Control ◽  
Prior History ◽  
Black Race ◽  
Increased Risk ◽  
History Of ◽  
Independent Risk Factors ◽  
Control Study

Between 1992 and 1999, 93 cases of blastomycosis, including 25 laboratory confirmed cases, were identified in Missouri (annual incidence, 0·2/100000 population). Mississippi County in southeastern Missouri had the highest incidence (12/100000) with a much higher rate among blacks than whites in this county (43·2/100000). The mortality rate, 44% was also higher among blacks. To determine risk factors for endemic blastomycosis, a case-control study was conducted among southeastern Missouri residents. Independent risk factors for blastomycosis were black race and a prior history of pneumonia. No environmental exposures or socioeconomic factors were significantly associated with increased risk. The increased risk among blacks may possibly be related to genetic factors, but further studies are needed to clarify this. However, heightened awareness of the disease and a better understanding of the risk factors are important and may lead to earlier diagnosis and start of treatment, possibly improving outcome.

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