scholarly journals Antenatal hydronephrosis: Key sign for the diagnostic of a familial genetic disease

2021 ◽  
Vol 95 (3) ◽  
pp. 204-206
Author(s):  
María Teresa Alarcón-Alacio ◽  
María Teresa Penela-Vélez de Guevara ◽  
María del Mar Ballesteros-García ◽  
María José Rivero-Martín
Keyword(s):  
Genetic Disease ◽  
Antenatal Hydronephrosis

THE ROLE OF PHOSPHATIDYLINOSITOL-3-KINASE IN CARCINOGENESIS

2017 ◽  
Vol 63 (4) ◽  
pp. 545-556
Author(s):  
Natalya Oskina ◽  
Aleksandr Shcherbakov ◽  
Maksim Filipenko ◽  
Nikolay Kushlinskiy ◽  
L. Ovchinnikova
Keyword(s):  
Genetic Disease ◽  
Intracellular Signaling ◽  
Somatic Mutations ◽  
Pi3k Pathway ◽  
Genetic Alterations ◽  
Phosphatidylinositol 3 Kinase ◽  
Intracellular Signaling Pathway ◽  
Metabolic Activities ◽  
Carcinogenic Process

Currently it is established that cancer is a genetic disease and that somatic mutations are the initiators of the carcinogenic process. The PI3K/AKT/mTOR pathway is an important intracellular signaling pathway regulating the cell growth and metabolic activities. Aberrant activation of the PI3K pathway is commonly observed in many different cancers. In this review we analyze the genetic alterations of PI3K pathway in a variety of human malignancies and discuss their possible implications for diagnosis and therapy.

Epigenetics in Cystic Fibrosis: Epigenetic Targeting of a Genetic Disease

2015 ◽  
Vol 16 (9) ◽  
pp. 976-987 ◽  
Author(s):  
Nualpun Sirinupong ◽  
Zhe Yang
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Disease

Pathogenic Genes Selection Model of Genetic Disease based on Network Motifs Slicing Feedback

2019 ◽  
Vol 16 (5) ◽  
pp. 392-401
Author(s):  
Shengli Zhang ◽  
Zekun Tong ◽  
Haoyu Yin ◽  
Yifan Feng
Keyword(s):  
Genetic Disease ◽  
Drug Targets ◽  
Selection Model ◽  
Network Motifs ◽  
Gene Set ◽  
Pathway Network ◽  
Gene Pathway ◽  
Pathogenic Genes ◽  
Pathogenic Gene ◽  
Selection Of

Background: Finding the pathogenic gene is very important for understanding the pathogenesis of the disease, locating effective drug targets and improving the clinical level of medical treatment. However, the existing methods for finding the pathogenic genes still have limitations, for instance the computational complexity is high, and the combination of multiple genes and pathways has not been considered to search for highly related pathogenic genes and so on. Methods: We propose a pathogenic genes selection model of genetic disease based on Network Motifs Slicing Feedback (NMSF). We find a point set which makes the conductivity of the motif minimum then use it to substitute for the original gene pathway network. Based on the NMSF, we propose a new pathogenic genes selection model to expand pathogenic gene set. Results: According to the gene set we have obtained, selection of key genes will be more accurate and convincing. Finally, we use our model to screen the pathogenic genes and key pathways of liver cancer and lung cancer, and compare the results with the existing methods. Conclusion: The main contribution is to provide a method called NMSF which simplifies the gene pathway network to make the selection of pathogenic gene simple and feasible. The fact shows our result has a wide coverage and high accuracy and our model has good expeditiousness and robustness.

Oncolytic Coxsackievirus and the Mechanisms of its Effects on Cancer: A Narrative Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Ali Ahmadi ◽  
Hadi Esmaeili Gouvarchin Ghaleh ◽  
Ruhollah Dorostkar ◽  
Mahdieh Farzanehpour ◽  
Masoumeh Bolandian
Keyword(s):  
Genetic Disease ◽  
Control Cell ◽  
Gene Mutations ◽  
Therapeutic Agents ◽  
Cell Penetrating Peptides ◽  
Triggered Release ◽  
New Techniques ◽  
Viral Therapy ◽  
Cell Penetrating ◽  
Cancer Cell Targeting

Abstract:: Cancer is a genetic disease triggered by gene mutations, which control cell growth and their functionality inherited from previous generations. The targeted therapy of some tumors was not especially successful. A host of new techniques can be used to treat aptamer-mediated targeting, cancer immunotherapy, cancer stem cell (CSC) therapy, cell-penetrating peptides (CPPs), hormone therapy, intracellular cancer cell targeting, nanoparticles, and viral therapy. These include chemical-analog conjugation, gene delivery, ligand-receptor-based targeting, prodrug therapies, and triggered release strategies. Virotherapy is a biotechnological technique for turning viruses into therapeutic agents by the reprogramming of viruses to cure diseases. In several tumors, including melanoma, multiple myeloma, bladder cancer, and breast cancer, the oncolytic capacity of oncolytic Coxsackievirus has been studied. The present study aims to assess oncolytic Coxsackievirus and its mechanisms of effect on cancer cells.

DNA markers in genetic disease

1990 ◽  
Vol 152 (6) ◽  
pp. 281-282
Author(s):  
Ronald J. Trent
Keyword(s):  
Dna Markers ◽  
Genetic Disease

scholarly journals Postnatal management of children with antenatal hydronephrosis

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Mohammed S. ElSheemy
Keyword(s):  
Renal Function ◽  
Urinary Tract Obstruction ◽  
Cost Effective ◽  
Voiding Cystourethrography ◽  
Main Body ◽  
Antenatal Hydronephrosis ◽  
Postnatal Management ◽  
Effective Manner ◽  
Lower Urinary Tract Obstruction

Abstract Background Postnatal management of infants with antenatal hydronephrosis (ANH) is still one of the most controversial issues. The majority of infants with ANH are asymptomatic with only few children who develop renal insufficiency. Thus, the biggest challenge for pediatric urologists is to distinguish children who will require further investigations and possible intervention prior to the development of symptoms, complications or renal damage in a cost effective manner without exposing them to the hazards of unnecessary investigations. Main body In this review article, literature on ANH were reviewed to present the current suggestions, recommendations, guidelines and their rational for postnatal management of ANH. It is agreed that a large portion of infants with ANH will improve; thus, the protocol of management is based mainly on observation and follow-up by ultrasound to detect either resolution, stabilization or worsening of hydronephrosis. The first 2 years of life are critical for this follow-up as the final picture is mostly reached during that period. Advanced imaging using voiding cystourethrography or renal scintigraphy are required for children at risk. Then, surgical intervention is selected only for a subgroup of these infants who showed worsening of hydronephrosis or renal function. Conclusions The protocol of management is based mainly on observation and follow-up by US to detect either resolution, stabilization or worsening of hydronephrosis. Postnatal evaluation should be performed for any neonate with a history ANH at any stage during pregnancy even if it was resolved during third trimester. Exclusion of UTI should be performed by urinalysis for all cases followed by urine culture if indicated. Serum creatinine should be performed especially in patients with bilateral ANH. US is the initial standard diagnostic imaging technique. Other imaging modalities like VCUG and nuclear renal scans may be required according to the results of the US evaluation. The most important items in decision making are the presence of bilateral or unilateral hydronephrosis, presence or absence of hydroureter, presence of lower urinary tract obstruction and degree of hydronephrosis on the initial postnatal US. Then an intervention is selected only for a subgroup of these patients who showed deterioration in renal function or degree of hydronephrosis or were complicated by UTIs. All these recommendations are based on the available literature. However, management of ANH is still a controversial issue due to lack of high evidence-based recommendations. Randomised controlled studies are still needed to provide a high level evidence for different aspects of management.

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