Spectroscopic image criteria for the selection of patients with ovarian cancer for further molecular genetic studies

Author(s):  
Sergey B. Yermolenko ◽  
Alexander Peresunko ◽  
Mykhailo Gavrylyak
2021 ◽  
Author(s):  
Mukur Dipi Ray ◽  
Suryanarayana S.V. Deo ◽  
Lalit Kumar ◽  
Manish Kumar Gaur

In cases of ovarian carcinoma, primary cytoreductive surgery (CRS) is the standard treatment up to stage IIIB, but patient selection for neoadjuvant chemotherapy (NACT) in selected cases is controversial. A total of 200 patients with advanced ovarian cancer were analyzed retrospectively, according to specific selection criteria. Primary CRS was performed in 95 patients (47.5%) and interval CRS after 3–6 cycles of NACT was performed in 105 patients (52.5%). After median follow-up of 35 months, 5-year overall survival was 53.7% in the upfront CRS group and 42.2% in the NACT group. Primary CRS is the standard in advanced stages of ovarian carcinoma, but in certain subset of patients, NACT is preferred. Identifying that group is challenging but feasible. Proper selection of patients is key to successful outcomes.


2017 ◽  
Vol 7 (4) ◽  
pp. 53-62 ◽  
Author(s):  
A. A. Rumyantsev ◽  
A. S. Tjulandina ◽  
I. A. Pokataev ◽  
D. Z. Kupchan ◽  
S. A. Tjulandin

2019 ◽  
Vol 22 (4) ◽  
pp. 384-391 ◽  
Author(s):  
Irina V. Kononenko ◽  
Anastasiya A. Glibka ◽  
Natalya A. Zubkova ◽  
Alexander Y. Mayorov ◽  
Anatoly N. Tyulpakov ◽  
...  

Approximately 90% of all cases of diabetes mellitus in adults involve type 2 diabetes, while the prevalence of maturity-onset diabetes of the young (MODY) remains undetermined leading to inappropriate treatment regimens. One of the most common monogenic forms of diabetes is a disease caused by a mutation in the glucokinase gene, MODY2. Knowledge of the clinical features of the disease allows the selection of patients with a high risk of mutation in the glucokinase gene and verification of diagnosis for molecular genetic research. This paper reflects the clinical features of MODY2 and the difficulties of diagnosis in adults. Furthermore, it presents a clinical case of a patient with MODY2 demonstrating all the features of this type of diabetes. A family member with a mutation in the gene allows to predict the nature of carbohydrate metabolism disorders in first degree relatives. A targeted study of only one part of the glucokinase gene in molecular genetic research is sufficient to confirm the diagnosis in relatives.


Author(s):  
Javier de la Torre Fernández de Vega ◽  
Jose Luis Sánchez-Iglesias ◽  
Assumpt Perez-Benavente ◽  
Antonio Gil-Moreno ◽  
Rasheda Begum Dina ◽  
...  

Epithelial ovarian cancer presents different histological subtypes, mainly serous, mucinous, endometriod, clear cell, mixed and undifferentiated cell. Molecular genetic studies have led to a new paradigm based on a dualistic model of ovarian carcinogenesis. There is a causal association between endometriosis and specific types of ovarian carcinomas, but the magnitude of the risk is low and endometriosis is not considered a premalignant lesion. Among the endometriosis-associated ovarian tumors adenocarcinoma is the most common (Endometrioid and clear cell) (70%), sarcoma is the second most common malignancy (12%) and rare cell types 6%. The gynecologist should pay special attention to identify patients with endometriosis who may be at an increased risk for ovarian cancer.


1970 ◽  
Vol 21 ◽  
pp. 33-36
Author(s):  
V. A. Lemesh ◽  
M. V. Bogdanova ◽  
E. L. Andronyk ◽  
I. A. Golub

Aim. The aim of this study was to develop of genomic biotechnology for the assessment and selection of the linssed breeding material by a complex of genes controlling the ratio of fatty acids in seeds oil to the creation of a new linseed variety. Methods. Breeding studies were combined with molecular-genetic studies. Results. We developed the genomic biotechnology to detect the mutant alleles of linseed fad3A and fad3B genes responsible for reduced α-linolenic acid levels in linseed oil. Using this biotechnology, it was possible to classify plants as homozygous mutant, homozygous wild type, or heterozygous at fad3A and fad3B loci, that can be used to breed new linseed varieties of food or industrial quality. Conclusions. By results of 3-year molecular-genetic and breeding studies the variety "Dar" was created with using the developed genomic biotechnology of an assessment and selection of linseed breeding material by a complex of the genes controlling the ratio of fatty acids in seeds oil.Keywords: linseed (Linum usitatissimum L.), α-linolenic acid, fatty acid desaturase, fad3 genes.


Author(s):  
Meridith L. Eastman ◽  
Ashlee A. Moore ◽  
Roxann Roberson-Nay

This chapter provides an overview of behavioral and molecular genetics of pediatric irritability. Literature searches using PubMed and PsycInfo databases yielded 37 relevant animal and human studies on irritability. Studies of rodent and primate models initially suggested a genetic etiology for the trait and influenced selection of candidate genes for study in human studies. Behavioral genetic studies of irritability suggest that pediatric irritability is likely influenced by additive genetic and nonshared unique environmental factors, with little to no influence of dominant genetic or shared family environmental factors. Molecular genetic studies have been largely limited to candidate genes with a few emerging genome-wide association studies (GWAS). Results from the candidate gene literature on irritability are inconclusive, and GWAS in clinical populations has yielded limited findings. Future genetic studies of irritability would benefit from the use of appropriate phenotypic measures, adequate sample sizes, and multimethod and longitudinal approaches.


2001 ◽  
Vol 178 (S40) ◽  
pp. s18-s24 ◽  
Author(s):  
Ming T. Tsuang ◽  
William S. Stone ◽  
Stephen V. Faraone

BackgroundData from family, twin and adoption studies show overwhelming evidence of a substantial genetic component in schizophrenia and although molecular genetic studies have been more difficult to replicate, recent improvements in technology have resulted in the implication of genes at several chromosomal loci. Nevertheless, it remains clear that environmental factors both add to and interact with genetic factors to produce the disorder.AimsTo incorporate genetic and environmental risk factors into a neurodevelopmental model in order to conceptualise the liability to schizophrenia.MethodA representative selection of the literature related to this issue is reviewed, together with a reformulation of Meehl's term ‘schizotaxia’ to describe the liability to the disorder.ResultsThe literature supports a multi-factorial view of the liability to schizophrenia, which includes both genetic and environmental components.ConclusionsSchizotaxia provides a useful way to conceptualise both the liability for schizophrenia, and also the development of treatment strategies aimed at the eventual prevention of the illness.


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