scholarly journals OMICs Role in Hereditarian Prostate Cancer

Proceedings ◽  
2020 ◽  
Vol 76 (1) ◽  
pp. 5
Author(s):  
Sergio Cuenca-Lopez ◽  
Patricia Maria Porras-Quesada ◽  
Fernando Vazquez-Alonso ◽  
Victor Sanchez-Conde ◽  
Maria del Pilar Gomez-Matas ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Degree Relative ◽  
High Incidence ◽  
The World ◽  
Risk Patients ◽  
History Of ◽  
Low Incidence ◽  
New Biomarkers ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Prostate cancer (PC) is one of the most prevalent tumours in the world, however, the hereditary (Hereditary PC; HPC) form is a rare pathology, that does not exceed 6%. Despite its very low incidence, a family history of PC in a first-degree relative multiplies the risk of suffering from PC by approximately two-fold. Therefore, the search for genetic variables associated with the detection, monitoring and treatment of the condition is paramount. In this study, we conduct deep screening of exomes by next-generation sequencing (NGS) analysis in search of new biomarkers. We performed this analysis in a family with a high incidence of PC. Our data reveal that variants in some genes, such as HIBCH and DPP4, are present in all HPC patients. Moreover, high-risk patients have unique additional variants, such as FANK1, TUBA3FP and ALDH3B2. These results provide a new set of promising biomarkers in HCP.

Family history of prostate cancer in patients with localized prostate cancer: an independent predictor of treatment outcome.

1997 ◽  
Vol 15 (4) ◽  
pp. 1478-1480 ◽  
Author(s):  
P A Kupelian ◽  
V A Kupelian ◽  
J S Witte ◽  
R Macklis ◽  
E A Klein
Keyword(s):  
Prostate Cancer ◽  
Treatment Outcome ◽  
Family History ◽  
Treatment Modality ◽  
Proportional Hazards ◽  
Positive Family History ◽  
Specific Antigen ◽  
Tumor Stage ◽  
Degree Relative ◽  
History Of

PURPOSE To determine if familial prostate cancer patients have a less favorable prognosis than patients with sporadic prostate cancer after treatment for localized disease with either radiotherapy (RT) or radical prostatectomy (RP). PATIENTS AND METHODS One thousand thirty-eight patients treated with either RT (n = 583) or RP (n = 455) were included in this analysis. These patients were noted as having a positive family history if they confirmed the diagnosis of prostate cancer in a first-degree relative. The outcome of interest was biochemical relapse-free survival (bRFS). We used proportional hazards to analyze the effect of the presence of family history and other potential confounding variables (ie, age, treatment modality, stage, biopsy Gleason sum [GS], and initial prostate-specific antigen [iPSA] levels) on treatment outcome. RESULTS Eleven percent of all patients had a positive family history. The 5-year bRFS rates for patients with negative and positive family histories were 52% and 29%, respectively (P < .001). The potential confounders with bRFS rates were iPSA levels, biopsy GS, and clinical tumor stage; treatment modality and age did not appear to be associated with outcome. After adjusting for potential confounders, family history of prostate cancer remained strongly associated with biochemical failure. CONCLUSION This is the first study to demonstrate that the presence of a family history of prostate cancer correlates with treatment outcome in a large unselected series of patients. Our findings suggest that familial prostate cancer may have a more aggressive course than nonfamilial prostate cancer, and that clinical and/or pathologic parameters may not adequately predict this course.

scholarly journals Incidence Of Diarrheal Infections In Ukraine: Epidemiological Peculiarities

2019 ◽  
Author(s):  
Nina Malysh ◽  
Oksana Chemych ◽  
Roman Rodyna ◽  
Inna Chorna ◽  
Svitlana Doan
Keyword(s):  
Drinking Water ◽  
Food Item ◽  
Analytical Study ◽  
Incidence Rates ◽  
Epidemiological Surveillance ◽  
Statistical Research ◽  
Factors Influencing ◽  
High Incidence ◽  
The World ◽  
Low Incidence

Abstract Background : Diarrheal infections remain relevant for many countries of the world. The processes of globalization, fundamental changes in nutrition and water consumption contributed to the fact that the significance of individual infection sources, etiological structure of diarrheal infections changed. Purpose of the study: on the background of the analytical study of the incidence of diarrheal infections in Ukraine under the current conditions, to determine the factors influencing epidemic situation. Methods: The reports of the Ministry of Health of Ukraine, Main Administrations of Statistics in Kharkiv, Odesa, Zaporizhia oblasts for 2011-2018 are used in the paper. Epidemiological and statistical research methods are applied. Results: The epidemic situation with diarrheal infections in Ukraine is characterized by a low incidence of typhoid fever (from 0.012 to 0.14 per 100 thousand people), shigellosis (from 1.97-6.13 per 100 thousand people), stable incidence rates without the downward trend, salmonellosis (from 17.35 till 24.1 per 100 thousand people), high incidence of diahrreal infections of specified etiology (from 115.5 to141.9 per 100 thousand people) and diahrreal infections of unspecified etiology (from 69.76 to 107.02 per 100 thousand people). The most complicated epidemic situation is observed in economically most developed regions of the country. Most diarrheal infectionsoutbreaks are connected with catering establishments 36.5 % and with children educational establishments 26.1 %. In the region with the highest shigellosis and salmonellosis incidence direct strong correlation relationships are established between the incidence and population, density, natural population movement. The oblasts with the highest diahrreal infections of specified etiology, rotaviral enteritis, diahrreal infections of unspecified etiology incidence are at least provided with water resources and have problems with provision of high-quality drinking water. There is a need to improve the system of epidemiological surveillance over diarrheal infections by extension of the indicators of microbiological study of drinking water quality in the regions of Ukraine, where high diahrreal infections of specified etiology, rotaviral enteritis, diahrreal infections of unspecified etiology incidence is registered; by increasing frequency of food item inspections in the oblasts, where mediana shigellosis and salmonellosis incidence exceeds the average one in Ukraine. Keywords: diarrheal infections, shigellosis, salmonellosis, rotaviral enteritis.

scholarly journals Differential Gene Expression in Patients With Prostate Cancer and in Patients With Parkinson Disease: an Example of Inverse Comorbidity

2021 ◽  
Author(s):  
Pietro Pepe ◽  
Simona Vetrano ◽  
Rossella Cannarella ◽  
Aldo E Calogero ◽  
Giovanna Marchese ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Causes Of Death ◽  
Genetic Factors ◽  
Target Genes ◽  
Lewy Bodies ◽  
Control Group ◽  
Healthy Donors ◽  
Differential Gene ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Prostate cancer (PCa) is one of the leading causes of death in Western countries. Environmental and genetic factors play a pivotal role in PCa etiology. Timely identification of the genetic causes is useful for an early diagnosis. Parkinson’s disease (PD) is the most frequent neurodegenerative movement disorder; it is associated with the presence of Lewy bodies (LBs) and genetic factors are involved in its pathogenesis. Several studies have indicated that the expression of target genes in patients with PD is inversely related to cancer development; this phenomenon has been named “inverse comorbidity”. The present study was undertaken to evaluate whether a genetic dysregulation occurs in opposite directions in patients with PD or PCa. In the present study, next-generation sequencing (NGS) transcriptome analysis was used to assess whether a genetic dysregulation in opposite directions occurs in patients with PD or PCa. The genes SLC30A1, ADO, SRGAP2C, and TBC1D12 resulted up-regulated in patients with PD compared to healthy donors as controls and down-regulated in patients with PCa compared with the same control group. These results support the hypothesis of the presence of inverse comorbidity between PD and PCa.

scholarly journals A Review of the Application of Next Generation Sequencing (NGS) in Wild Terrestrial Vertebrate Research

2019 ◽  
pp. 1-9 ◽  
Author(s):  
Ramitha Arumugam ◽  
Joey Ee Uli ◽  
Geetha Annavi
Keyword(s):  
Life Science ◽  
Review Paper ◽  
High Reliability ◽  
Next Generation ◽  
Detailed Understanding ◽  
Terrestrial Vertebrate ◽  
Look Back ◽  
History Of ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

In era of sequencing revolution, scientists seek for knowledge about the ever-expanding field of technology, Next Generation Sequence (NGS) to be applied in their research due to its high reliability and rate of discovery. What is NGS? To obtain a detailed understanding about NGS, it is required to look back the history of sequencing and how the NGS stepped into life science. This review paper gives an overview of NGS projects in wild terrestrial vertebrate including applications such as whole genome sequencing and metagenomics.

Incidence of Mitral Valve Prolapse in Adolescent Scoliosis and Thoracic Hypokyphosis

PEDIATRICS ◽  
1982 ◽  
Vol 70 (3) ◽  
pp. 451-454
Author(s):  
Stephen S. Hirschfeld ◽  
Charles Rudner ◽  
Clyde L. Nash ◽  
Eliezer Nussbaum ◽  
Eleanor M. Brower
Keyword(s):  
Family History ◽  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Soft Tissue Defect ◽  
Skeletal Abnormality ◽  
Degree Relative ◽  
Familial History ◽  
High Incidence ◽  
History Of ◽  
Echocardiographic Evidence

Seventy-four patients with adolescent scoliosis underwent cardiac examination and M-mode echocardiography to detect the presence of mitral valve prolapse (MVP). Twenty-one (28%) had echocardiographic evidence of MVP, whereas 18 had auscultatory findings of a nonejection click or late systolic murmur. A subset of 41 patients had a family history of scoliosis and 37% had MVP. The incidence of MVP increased to 41% when a first degree relative, such as a sibling, parent, or offspring, had scoliosis. Thirty-six patients with scoliosis had additional thoracic hypokyphosis (straight back) and 13 (36%) had MVP. The incidence of MVP was 48% when the scoliosis and hypokyphosis were hereditary and increased to 53% when a familial history of skeletal abnormality was present. This study indicates a high incidence of MVP in patients with scoliosis and hypokyphosis, especially when the skeletal abnormality is familial. It suggests that the cardiac and skeletal systems may be affected by a generalized soft-tissue defect.

scholarly journals THE SPECTRUM OF GENETIC DEFECTS IN CHRONIC LYMPHOCYTIC LEUKEMIA

2012 ◽  
Vol 4 (1) ◽  
pp. e2012076 ◽  
Author(s):  
Davide Rossi ◽  
Marco Fangazio ◽  
Gianluca Gaidano
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Lymphocytic Leukemia ◽  
Leukemic Cells ◽  
Western World ◽  
Tp53 Mutations ◽  
High Risk Disease ◽  
Risk Patients ◽  
New Biomarkers ◽  
Molecular Bases ◽  
Generation Sequencing

Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world and shows a remarkable heterogeneity in the clinical course. Understand the genetic basis of CLL may help in clarifying the molecular bases of this clinical heterogeneity. Recurrent chromosomal aberrations at 13q14, 12q, 11q22-q23 and 17p13, and TP53 mutations are the first genetic lesions identified as drivers of the disease. While some of these lesions are associated with poor outcome (17p13 deletion, TP53 mutations and, to a lesser extent, 11q22-q23 deletion) others are linked to a favorable course (13q14 deletion as sole aberration). Recently, next generation sequencing has revealed additional recurrent alterations in CLL targeting the NOTCH1, SF3B1, and BIRC3 genes. NOTCH1, SF3B1, and BIRC3 lesions provide: i) new insights on the mechanisms of leukemogenesis, tumor progression and chemoresistance in this leukemia; ii) new biomarkers for the identification of poor risk patients, having individually shown correlations with survival in CLL; and iii) new therapeutic targets, especially in the setting of high risk disease. This review will summarize the most important genetic aberrations in CLL and how our improved knowledge of the genome of leukemic cells may translate into improved patients' management.

Somatic tumor profiling of DNA mismatch repair (MMR) deficient endometrial cancers (EC).

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e17121-e17121
Author(s):  
Karen Anne Cadoo ◽  
Deborah DeLair ◽  
Diana Mandelker ◽  
Magan Trottier ◽  
Carolyn Stewart ◽  
...  
Keyword(s):  
Protein Expression ◽  
Promoter Hypermethylation ◽  
Protein Loss ◽  
Loss Assessment ◽  
Degree Relative ◽  
Dna Mismatch ◽  
History Of ◽  
Generation Sequencing ◽  
Tumor Profiling ◽  
Rule Out

e17121 Background: Approximately 20% of EC have loss of MMR ( MSH2, MSH6, MLH1, PMS2) protein expression by immunohistochemistry (IHC). The majority have somatic MLH1/PMS2 loss, driven by MLH1 promoter hypermethylation. For the remaining patients (pts), germline testing for Lynch Syndrome (LS) is recommended. However, half do not have a corresponding germline mut. This is considered “Lynch-like syndrome” (LLS) & clinical management is challenging. We sought to determine if tumor profiling could identify somatic mut potentially underpinning loss of protein expression. Methods: Per institutional standard, all EC, regardless of age or family history undergo reflex LS screening with IHC for MMR protein expression. Pts consented to IRB approved protocols. Tumor-normal sequencing was performed via custom next-generation sequencing panel (MSK-IMPACT). Electronic medical records were reviewed. Results: 16 pt have completed tumor sequencing, median age 53 (35-83), 6 (38%) < 50 yrs at diagnosis. 2 had personal history of additional cancer (DCIS, ovary), none had first degree relative with colon or EC. A mix of EC histologies was represented: 10 endometrioid (all grades), 2 clear cell, 4 mixed. There were no serous cancers. There were median 58 mut (9-546), 14 (88%) had hyper or ultra mutated EC. 5 EC were driven by somatic POLE mut (3 known hotspot, 1 likely pathogenic), all ultra-mutated phenotype, resulting in multiple somatic MSH6 muts with isolated IHC MSH6 loss. 4 EC had MSH2/MSH6 IHC loss with corresponding double somatic mut in MSH2. 5 had one somatic mut corresponding to the MMR protein loss, assessment of LOH in these cases is pending. Two cases are unexplained: 40 yo with IHC MLH1 loss, 47mut; 69 yo, IHC MSH6 loss, 12 mut. In this cohort of LLS, somatic muts were frequently observed in ARID1A (13,81%), PTEN (10,63%) & PIK3CA(9,56%), in keeping with non serous histologies. Conclusions: In line with our prior report that pt with LLS had benign personal & family cancer histories compared with LS pts, we have identified that in 56% of LLS EC either POLE mut or double somatic MMR mut likely underpins the MMR IHC loss. As such, in these LLS EC cases, somatic tumor profiling may help to rule out LS. Further testing is ongoing to increase cohort size.

scholarly journals Pros and Cons of Focal Therapy for Localised Prostate Cancer

2011 ◽  
Vol 2011 ◽  
pp. 1-8 ◽  
Author(s):  
Luigi Mearini ◽  
Massimo Porena
Keyword(s):  
Prostate Cancer ◽  
Prostate Cancer Screening ◽  
Focal Therapy ◽  
Screening Programs ◽  
High Incidence ◽  
Related Quality ◽  
Health Related ◽  
History Of ◽  
Pros And Cons

In prostate cancer, an interesting and intriguing option to overcome the risks of whole-gland treatment is focal therapy, with the aim of eradicating known cancer foci and reducing collateral damages to the structures essential for maintaining normal urinary and sexual function. Ablation of all known lesions would favorably alter the natural history of the cancer without impacting health-related quality of life and allows for safe retreatment with repeated focal therapy or whole-gland approaches if necessary. Our objective is to reassess the possibilities and criticisms of such procedure: the rationale for focal therapy and the enthusiasm come from the success of conservative approaches in treating other malignancies and in the high incidence of overtreatment introduced by prostate cancer screening programs. One of the challenges in applying such an approach to the treatment of prostate cancer is the multifocal nature of the disease and current difficulties in accurate tumor mapmaking.

scholarly journals Using COVID-19 Pandemic as an Opportunities for Technology Usage Inspiration and Innovation for African Countries

2021 ◽  
Vol 10 (1) ◽  
pp. 357-365
Keyword(s):  
New Technologies ◽  
Full Potential ◽  
African Countries ◽  
Health Crisis ◽  
Work From Home ◽  
The World ◽  
Risk Patients ◽  
History Of ◽  
To Come ◽  
Work Education

In developing nations, and on the African continent in particular, the uptake and impact of technological and other developments is often slower than in other parts of the world. While pockets of development exist on the continent as a source of work, education and access much of Africa remains trapped in a cycle of poverty.In this worldwide health crisis, the medical industry is looking for new technologies to monitor and controls the spread of COVID19 (Coronavirus) pandemic. AI is one of such technology which can easily track the spread of this virus, identifies the high-risk patients, and is useful in controlling this infection in real-time. Educators have created online classrooms in a matter of days. Information resources to educate the public and track the spread of the virus using big data sprang up seemingly overnight. Finally, those of us fortunate enough to have jobs that allow us to work from home are learning the full potential of the communication technologies that the 21stcentury has bestowed upon us. None of these tasks have been easy, but individuals and organizations have demonstrated the motivation and mind shifts needed to research, innovate, and act quickly.AI embodies the field of knowledge that seeks to create machines (computers) thatcan emulate human cognitive functions such as learning, reasoning, understanding, vision, perception, recognition, and problem solving to a reasonable level. Computers that have AI capabilities are currently being used in severalreal-worlddomains to solve problems. AI has already played a significant role in each stage of fighting the COVID-19 pandemic. Some areas where we saw immediate applications include the processing of large amounts of data to find patterns that could lead to the discovery of potential treatment drugs; as well astreating infected people.The novel aspect of this pandemic involves several unknowns and is likely to have a lingering impact for years to come. However, despite the current climate, I am somewhat comforted that the history of past pandemics and crises suggests an eventual recovery plan for the world. After all, necessity is the mother of all invention. New creations arise out of disruption.

scholarly journals A genome epidemiological study of mycobacterium tuberculosis in subpopulations with high and low incidence rate in Guangxi, South China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dingwen Lin ◽  
Junning Wang ◽  
Zhezhe Cui ◽  
Jing Ou ◽  
Liwen Huang ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Incidence Rate ◽  
South China ◽  
Demographic History ◽  
Lineage Differentiation ◽  
A Genome ◽  
High Incidence ◽  
History Of ◽  
Lineage 2 ◽  
Low Incidence

Abstract Background Tuberculosis (TB) is caused by a bacterium called Mycobacterium tuberculosis (Mtb). China is the third in top 8 high TB burden countries and Guangxi is one of the high incidence areas in South China. Determine bacterial factors that affected TB incidence rate is a step toward Ending the TB epidemic. Results Genomes of M. tuberculosis cultures from a relatively high and low incidence region in Guangxi have been sequenced. 347 of 358(96.9%) were identified as M. tuberculosis. All the strains belong to Lineage 2 and Lineage 4, except for one in Lineage 1. We found that the genetic structure of the M. tuberculosis population in each county varies enormously. Low incidence rate regions have a lower prevalence of Beijing genotypes than other regions. Four isolates which harbored mutT4-48 also had mutT2-58 mutations. It is suggested that strains from the ancestors of modern Beijing lineage is circulating in Guangxi. Strains of modern Beijing lineage (OR=2.04) were more likely to acquire drug resistances than Lineage 4. Most of the lineage differentiation SNPs are related to cell wall biosynthetic pathways. Conclusions These results provided a higher resolution to better understand the history of transmission of M. tuberculosis from/to South China. And the incidence rate of tuberculosis might be affected by bacterial population structure shaped by demographic history. Our findings also support the hypothesis that Modern Beijing lineage originated in South China.

Sign in / Sign up

Export Citation Format

Share Document