Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
4.1
2.4
Journals
Medicina
Special Issues
Advances in Medical Genetics, Genomics and Precision Medicine: From a...
share announcement

Advances in Medical Genetics, Genomics and Precision Medicine: From a Molecular Perspective to Clinical Practice

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: closed (31 January 2025) | Viewed by 9931

Special Issue Editors

Prof. Dr. Darko Katalinić

E-Mail Website
Guest Editor
1. Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
2. Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
Interests: internal medicine; molecular medicine; medical genetics; medical genomics; hematology; medical oncology; molecular biology; endocrinology; endocrine oncology; precision medicine
Dr. Ivana Škrlec

E-Mail Website
Guest Editor
Faculty of Dental Medicine and Health, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia
Interests: mental health; cardiogenetics; genetic epidemiology; circadian rhythm; molecular biology research

Special Issue Information

Dear Colleagues,

The breathtaking developments in molecular diagnostics over the past decades and their translation to clinical practice have enabled insight into the pathophysiology of diseases that could only be recognized at the supracellular level until now. The introduction of molecular techniques for the detection of genetic and chromosomal disorders has opened up a range of possibilities for precise diagnostics. This progress also enables the development of completely new therapies with influence at the subcellular level, such as targeted therapy, immunotherapy, cell therapy and gene therapy. Nevertheless, its implementation is not without barriers, including difficulties in the assessment and interpretation of genomic data, deficient training of professionals in this field and unequal access to units with scientific expertise, as well as infrastructures necessary for the incorporation of genomic technologies.

The main aim of this Special Issue of Medicina will be to deliver new insight from the fields of molecular and cellular medicine that describe the impact of medical genetics- and genomics-disruptive innovations on the healthcare system in order to provide better diagnosis and treatment.

I invite colleagues around the world to report their experience and knowledge in medical genetics and genomics with basic, translational and clinical research, original studies, comparative studies, reviews, systematic reviews and meta-analyses. Only rare clinical entities and case reports that are novel are welcome.

Prof. Dr. Darko Katalinić
Dr. Ivana Škrlec
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • molecular medicine
  • medical genetics
  • genomics
  • precision medicine
  • clinical practice

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (5 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

21 pages, 1680 KiB  
Article
Pituitary Adenoma: SSTR2 rs2236750, SSTR5 rs34037914, and AIP rs267606574 Genetic Variants, Serum Levels, and Ki-67 Labeling Index Associations
by Greta Gedvilaite-Vaicechauskiene, Loresa Kriauciuniene, Arimantas Tamasauskas, Vita Rovite, Ilona Mandrika, Sheng-Nan Wu, Chin-Wei Huang, Lina Poskiene and Rasa Liutkeviciene
Medicina 2024, 60(8), 1252; https://doi.org/10.3390/medicina60081252 - 1 Aug 2024
Cited by 1 | Viewed by 1672
Abstract
Background and Objectives: This study explores the complex pathogenesis of pituitary adenomas (PAs), prevalent intracranial tumors in the pituitary gland. Despite their generally benign nature, PAs exhibit a diverse clinical spectrum involving hormone hypersecretion and varying invasiveness, hinting at multifaceted molecular mechanisms and [...] Read more.
Background and Objectives: This study explores the complex pathogenesis of pituitary adenomas (PAs), prevalent intracranial tumors in the pituitary gland. Despite their generally benign nature, PAs exhibit a diverse clinical spectrum involving hormone hypersecretion and varying invasiveness, hinting at multifaceted molecular mechanisms and abnormalities in tumorigenesis and gene regulation. Materials and Methods: The investigation focuses on the Ki-67 labeling index, SSTR2 rs2236750, SSTR5 rs34037914, and AIP rs267606574 polymorphisms, alongside serum levels of SSTR2, SSTR5, and AIP, to discern their association with PAs. The Ki-67 labeling index was assessed using immunohistochemical analysis with the monoclonal antibody clone SP6, representing the percentage of tumor cells showing positive staining. Genotyping was performed via real-time polymerase chain reaction, and serum levels were analyzed using ELISA. The study included 128 PA patients and 272 reference group subjects. Results: The results derived from binary logistic regression analysis revealed an intriguing correlation between the SSTR2 rs2236750 AG genotype and approximately a 1.6-fold increased likelihood of PA occurrence. When analyzing SSTR5 rs34037914, statistically significant differences were found between Micro-PA and the reference group (p = 0.022). Additionally, the SSTR5 rs34037914 TT genotype, compared with CC + CT, under the most robust genetic model (selected based on the lowest AIC value), was associated with a 12-fold increased odds of Micro-PA occurrence. However, it is noteworthy that after applying Bonferroni correction, these findings did not retain statistical significance. Conclusions: Consequently, while this study hinted at a potential link between SSTR2 rs2236750 and pituitary adenoma development, as well as a potential link between SSTR5 rs34037914 and Micro-PA development, it underscored the need for further analysis involving a larger cohort to robustly validate these findings. Full article
(This article belongs to the Special Issue Advances in Medical Genetics, Genomics and Precision Medicine: From a Molecular Perspective to Clinical Practice)
►▼ Show Figures

Figure 1

13 pages, 2058 KiB  
Article
Evaluation of Antimicrobial Resistance in Clinical Isolates of Enterococcus spp. Obtained from Hospital Patients in Latvia
by Linda Labecka, Juris Ķibilds, Aivars Cīrulis, Evelīna Diāna Čeirāne, Indra Zeltiņa, Aigars Reinis, Barba Vilima, Dace Rudzīte, Renārs Erts, Inga Mauliņa, Dace Bandere and Angelika Krūmiņa
Medicina 2024, 60(6), 850; https://doi.org/10.3390/medicina60060850 - 23 May 2024
Cited by 1 | Viewed by 2071
Abstract
Background and Objective: Enterococci are typically found in a healthy human gastrointestinal tract but can cause severe infections in immunocompromised patients. Such infections are treated with antibiotics. This study addresses the rising concern of antimicrobial resistance (AMR) in Enterococci, focusing on the [...] Read more.
Background and Objective: Enterococci are typically found in a healthy human gastrointestinal tract but can cause severe infections in immunocompromised patients. Such infections are treated with antibiotics. This study addresses the rising concern of antimicrobial resistance (AMR) in Enterococci, focusing on the prevalence of vancomycin-resistant enterococcus (VRE) strains. Materials and Methods: The pilot study involved 140 Enterococci isolates collected between 2021 and 2022 from two multidisciplinary hospitals (with and without local therapeutic drug monitoring protocol of vancomycin) in Latvia. Microbiological assays and whole genome sequencing were used. AMR gene prevalence with resistance profiles were determined and the genetic relationship and outbreak evaluation were made by applying core genome multi-locus sequence typing (cgMLST). Results: The acquired genes and mutations were responsible for resistance against 10 antimicrobial classes, including 25.0% of isolates expressing resistance to vancomycin, predominantly of the vanB type. Genetic diversity among E. faecalis and E. faecium isolates was observed and seven potential outbreak clusters were identified, three of them containing sequence types ST6, ST78 and ST80. The prevalence of vancomycin resistance was highest in the hospital without a therapeutic drug-monitoring protocol and in E. faecium. Notably, a case of linezolid resistance due to a mutation was documented. Conclusions: The study illustrates the concerning prevalence of multidrug-resistant Enterococci in Latvian hospitals, showcasing the rather widespread occurrence of vancomycin-resistant strains. This highlights the urgency of implementing efficient infection control mechanisms and the need for continuous VRE surveillance in Latvia to define the scope and pattern of the problem, influencing clinical decision making and planning further preventative measures. Full article
(This article belongs to the Special Issue Advances in Medical Genetics, Genomics and Precision Medicine: From a Molecular Perspective to Clinical Practice)
►▼ Show Figures

Figure 1

12 pages, 326 KiB  
Article
HLA-DR and HLA-DQ Polymorphism Correlation with Sexually Transmitted Infection Caused by Chlamydia trachomatis
by Martina-Luciana Pintea-Trifu, Mihaela Laura Vică, Silvia-Ștefana Bâlici, Daniel-Corneliu Leucuța, Horia George Coman, Bogdan Nemeș, Dragoș-Mihail Trifu, Costel-Vasile Siserman and Horea-Vladi Matei
Medicina 2024, 60(5), 808; https://doi.org/10.3390/medicina60050808 - 14 May 2024
Viewed by 1989
Abstract
Background and Objectives: Chlamydia trachomatis (C. trachomatis) represents one of the most prevalent bacterial sexually transmitted diseases. This study aims to explore the relationship between HLA alleles/genotypes/haplotypes and C. trachomatis infection to better understand high-risk individuals and potential complications. Materials and Methods [...] Read more.
Background and Objectives: Chlamydia trachomatis (C. trachomatis) represents one of the most prevalent bacterial sexually transmitted diseases. This study aims to explore the relationship between HLA alleles/genotypes/haplotypes and C. trachomatis infection to better understand high-risk individuals and potential complications. Materials and Methods: This prospective study recruited participants from Transylvania, Romania. Patients with positive NAAT tests for C. trachomatis from cervical/urethral secretion or urine were compared with controls regarding HLA-DR and -DQ alleles. DNA extraction for HLA typing was performed using venous blood samples. Results: Our analysis revealed that the presence of the DRB1*13 allele significantly heightened the likelihood of C. trachomatis infection (p = 0.017). Additionally, we observed that individuals carrying the DRB1*01/DRB1*13 and DQB1*03/DQB1*06 genotype had increased odds of C. trachomatis infection. Upon adjustment, the association between the DRB1*01/DRB1*13 genotype and C. trachomatis remained statistically significant. Conclusions: Our findings underscore the importance of specific HLA alleles and genotypes in influencing susceptibility to C. trachomatis infection. These results highlight the intricate relationship between host genetics and disease susceptibility, offering valuable insights for targeted prevention efforts and personalized healthcare strategies. Full article
(This article belongs to the Special Issue Advances in Medical Genetics, Genomics and Precision Medicine: From a Molecular Perspective to Clinical Practice)
13 pages, 1994 KiB  
Article
Olmutinib Reverses Thioacetamide-Induced Cell Cycle Gene Alterations in Mice Liver and Kidney Tissues, While Wheat Germ Treatment Exhibits Limited Efficacy at Gene Level
by Seema Zargar, Tanveer A. Wani, Salman Alamery and Fatimah Yaseen
Medicina 2024, 60(4), 639; https://doi.org/10.3390/medicina60040639 - 16 Apr 2024
Cited by 1 | Viewed by 1644
Abstract
Background and Objectives: TAA is potent hepatic/renal toxicant. Conversely, WGO is a potent dietary supplement with impressive antioxidant properties. Olmutinib is an apoptotic chemotherapy drug that does not harm the liver or kidney. This study investigated the impact of olmutinib and wheat [...] Read more.
Background and Objectives: TAA is potent hepatic/renal toxicant. Conversely, WGO is a potent dietary supplement with impressive antioxidant properties. Olmutinib is an apoptotic chemotherapy drug that does not harm the liver or kidney. This study investigated the impact of olmutinib and wheat germ oil (WGO) on Thioacetamide (TAA)-induced gene alterations in mice liver and kidney tissues. Materials and Methods: Adult male C57BL/6 mice were exposed to 0.3% TAA in drinking water for 14 days, followed by the oral administration of olmutinib (30 mg/kg) and WGO (1400 mg/kg) for 5 consecutive days. Treatment groups included the following: groups I (control), II (TAA-exposed), III (TAA + olmutinib), IV (TAA + WGO), and V (TAA + olmutinib + WGO). Results: The findings revealed that TAA exposure increased MKi67 and CDKN3 gene expression in liver and kidney tissues. Olmutinib treatment effectively reversed these TAA-induced effects, significantly restoring MKi67 and CDKN3 gene expression. WGO also reversed MKi67 effects in the liver but exhibited limited efficacy in reversing CDKN3 gene alterations induced by TAA exposures in both the liver and kidney. TAA exposure showed the tissue-specific expression of TP53, with decreased expression in the liver and increased expression in the kidney. Olmutinib effectively reversed these tissue-specific alterations in TP53 expression. While WGO treatment alone could not reverse the gene alterations induced by TAA exposure, the co-administration of olmutinib and WGO exhibited a remarkable potentiation of therapeutic effects in both the liver and kidney. The gene interaction analysis revealed 77.4% of physical interactions and co-localization between MKi67, CDKN3, and TP53 expressions. Protein–protein interaction networks also demonstrated physical interactions between MKi67, TP53, and CDKN3, forming complexes or signaling cascades. Conclusions: It was predicted that the increased expression of the MKi67 gene by TAA leads to the increase in TP53, which negatively regulates the cell cycle via increased CDKN3 expression in kidneys and the restoration of TP53 levels in the liver. These findings contribute to our understanding of the effects of olmutinib and WGO on TAA-induced gene expression changes and highlight their contrasting effects based on cell cycle alterations. Full article
(This article belongs to the Special Issue Advances in Medical Genetics, Genomics and Precision Medicine: From a Molecular Perspective to Clinical Practice)
►▼ Show Figures

Figure 1

Review

Jump to: Research

18 pages, 2227 KiB  
Review
TRAIL as a Warrior in Nano-Sized Trojan Horse: Anticancer and Anti-Metastatic Effects of Nano-Formulations of TRAIL in Cell Culture and Animal Model Studies
by Ammad Ahmad Farooqi, Assiya Turgambayeva, Gulnara Kamalbekova, Roza Suleimenova, Natalya Latypova, Sholpan Ospanova, Dinara Ospanova, Zhanat Abdikadyr and Sabit Zhussupov
Medicina 2024, 60(12), 1977; https://doi.org/10.3390/medicina60121977 - 1 Dec 2024
Cited by 1 | Viewed by 1227
Abstract
Cancer is a therapeutically challenging and genomically complicated disease. Pioneering studies have uncovered multifaceted aspects of cancer, ranging from intra- and inter-tumor heterogeneity, drug resistance, and genetic/epigenetic mutations. Loss of apoptosis is another critical aspect that makes cancer cells resistant to death. A [...] Read more.
Cancer is a therapeutically challenging and genomically complicated disease. Pioneering studies have uncovered multifaceted aspects of cancer, ranging from intra- and inter-tumor heterogeneity, drug resistance, and genetic/epigenetic mutations. Loss of apoptosis is another critical aspect that makes cancer cells resistant to death. A substantial fraction of mechanistic information gleaned from cutting-edge studies has enabled researchers to develop near-to-complete resolution of the apoptotic pathway. Within the exciting frontiers of apoptosis, TRAIL (tumor necrosis factor-related apoptosis-inducing ligand) has garnered phenomenal appreciation by interdisciplinary researchers principally because of its unique capability to target cancer cells. TRAIL-based monotherapies and combinatorial therapies have reached phase II and phase III clinical trials. Rapidly upgrading the list of clinical trials substantiates the clinically valuable role of TRAIL-based therapeutics in cancer therapy. However, there is a growing concern about the poor bioavailability and rapid clearance of TRAIL-based therapeutics. Excitingly, the charismatic field of nanotechnology offers solutions for different problems, and we have witnessed remarkable breakthroughs in the efficacy of TRAIL-based therapeutics using nanotechnological approaches. In this review, we have attempted to provide a summary about different nanotechnologically assisted delivery methods for TRAIL-based therapeutics in cell culture studies and animal model studies for the inhibition/prevention of cancer. Full article
(This article belongs to the Special Issue Advances in Medical Genetics, Genomics and Precision Medicine: From a Molecular Perspective to Clinical Practice)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-5
Back to TopTop