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Open Access

ISSN 2577-5790

© 2024 by the authors; CC BY 4.0 licence

OBM Genetics , Volume 8 , Issue 1 (2024)

Pages: 235

Published: April 2024

(This book is a printed edition that was published in OBM Genetics)

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Cover Story:  Our study evaluates how chromosomal abnormalities affect assisted reproduction techniques (ART) challenges among infertile couples, impacting their chances of conception. Chromosomal abnormalities, a leading cause of pregnancy failure and miscarriages, were investigated in a four-year retrospective study involving 100 patients with a history of infertility and unsuccessful IVF treatment. Among these cases, nine (9%) displayed aberrant chromosomal patterns, including balanced translocations (5%), sex chromosome deletions (3%), and one case of a small supernumerary marker chromosome (sSMC) (1%). The results of the present study highlight the importance of integrating comprehensive cytogenetic analysis as a routine diagnostic tool for individuals dealing with infertility, particularly before assisted reproduction techniques, to avert recurrent implantation failure and to enhance their chances of success. View this paper.

Volume 8,Issue 1

Open Access Short Report

X Ray-Induced Insulinoma Cell Line Rin-5F Has a Novel Mutation Site, C.A1459G (P.T487A), in Death Domain Associated Protein (DAXX) Gene

Received: 05 January 2024;  Published: 19 March 2024;  doi: 10.21926/obm.genet.2401223

Abstract

A popular toxicological and pharmacological research cell line is the insulin-secreting pancreatic cell line Rin-5F. The cell line originates from insulinomas induced by X-ray exposure. The author of this report looked at the mutation status of the DAXX gene in the Rin-5F cell line clone. The complete DNA and RNA were extracted from the cultivated cells as well. Double-stranded cDNA was then synthesized using the RNA template. Sequencing was done usi [...]

Open Access Original Research

Preimplantation Genetic Testing: Personal Views Regarding the Invasiveness of Trophectoderm Biopsy and Risks on Embryos Development “An Operators Survey”

Received: 02 January 2024;  Published: 07 March 2024;  doi: 10.21926/obm.genet.2401222

Abstract

This study aims to assess the Trophectoderm (TE) biopsy practice in Jordan in terms of the following effectiveness parameters: timing of zona breaching, risk of inner cell mass herniation if zona breaching was done on day 3, timing of TE sampling, method of biopsy (pulling or flicking), number of laser pulses, assessment of embryo survival after biopsy, and degeneration rate. An online cross-sectional survey was conducted in November 2022. The collected data presented the perception [...]

Open Access Review

A Review on Male Infertility and Herbal Medicine: Complementary and Alternative Therapies in Animal Models

Received: 27 September 2023;  Published: 06 March 2024;  doi: 10.21926/obm.genet.2401221

Abstract

Various factors contributing to male infertility include genetic determinants, hormonal/neurological imbalance, erectile/libido disorders, genital tract injuries, and toxic/ischemic testicular injuries. Herbs increase sperm count and quality parameters, as well as sexual performance in infertile men, through various mechanisms. For this purpose, efforts were made to investigate effective plants in treating infertility, focusing on those studied in animal research. In this review, we explored the [...]

Open Access Case Report

Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing RAI1

Received: 30 December 2023;  Published: 05 March 2024;  doi: 10.21926/obm.genet.2401220

Abstract

Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containing the RAI1 (retinoic acid induced 1) gene. Cytogenetic testing, including chromosomal microarray, karyotype, and FISH analysis, identi [...]

Open Access Review

Challenges and Opportunities of Gene Therapy in Cancer

Received: 07 October 2023;  Published: 04 March 2024;  doi: 10.21926/obm.genet.2401219

Abstract

Gene therapy involves either the direct introduction of genetic material (DNA or RNA) into the host cell (or organ), known as in vivo gene therapy, the re-introduction of the modified target cells taken out of the host, or ex vivo gene therapy. Cancer is mainly caused by the non-functioning of genes required for normal cell proliferation, and it has emerged as the leading cause of death globally due to the absence of efficient and safe therapies as well [...]

Open Access Case Report

The Jacobs Syndrome: Clinical Case

Received: 15 October 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401218

Abstract

This work describes a clinical case of a violation of sex formation in a newborn child with Y-chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and associated anomalies in sex development are being considered. The work presents clinical and laboratory data for Y-chromosome dysomy. It is noted that the challenge in diagnosing disorders of sex development is associated with the polymorphic clinical manifestations of this syndrome. It is noted that the pre [...]

Open Access Research Article

Exploring Education for Children with 22q11.2 Deletion Syndrome: A Qualitative Study of Mothers Perspectives

Received: 26 September 2023;  Published: 28 February 2024;  doi: 10.21926/obm.genet.2401217

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a complex and widely variable genetic syndrome involving multisystem physical health problems, significant cognitive and psychosocial challenges, all of which may impact upon learning and academic achievement. In the current study, we explored mothers’ perceptions of their child’s learning within early and primary educational contexts. We conducted 3 online focus groups and 1 online semi-structured interview with a total of 9 mothers of children diagnosed [...]

Open Access Original Research

Molecular Study on Y Chromosome Microdeletion in Male Infertility: A Cross-Sectional Design in Indonesian Men

Received: 09 October 2023;  Published: 27 February 2024;  doi: 10.21926/obm.genet.2401216

Abstract

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 [...]

Open Access Review

MiRNAs as Promising Therapeutic Targets for Breast Cancer

Received: 27 November 2023;  Published: 26 February 2024;  doi: 10.21926/obm.genet.2401215

Abstract

Breast cancer (BC) is the most common cause of cancer-related death and is the malignancy most frequently diagnosed in females worldwide. BC incidence is predicted to continue increasing worldwide. Without interventions, annual new cases will reach over 3 million by 2030. Genetic abnormalities account for almost 70% of all BC cases worldwide. Biological pathways implicated include non-coding RNAs (ncRNAs). MiRNAs are small non-coding RNA molecules that play a role in post-transcriptional regulat [...]

Open Access Research Article

B5N10 Nanocarrier Functionalized with Al, C, Si Atoms: A Drug Delivery Method for Infectious Disease Remedy

Received: 27 November 2023;  Published: 21 February 2024;  doi: 10.21926/obm.genet.2401214

Abstract

As proof has recommended a close connection between COVID-19 and neurodegenerative disorders, this article aims to investigate the chloroquine (CLQ) drug as the SARS-CoV-2’s primary protease, which can prevent in vitro viral duplication of all diverse experiments to present. CLQ is an anti-viral drug enlarged by Pfizer, which can operate as an orally effective 3C-like protease inhibitor. In this study, CLQ has been assessed for its effectiveness against coronavirus by trapping it within a boron [...]

Open Access Original Research

Artocarpus Communis Seed Regulates P53, IRS, HsD17β2, FTO, and CYP11a Genes in Polycystic Ovarian Syndrome Rats

Received: 20 November 2023;  Published: 20 February 2024;  doi: 10.21926/obm.genet.2401213

Abstract

Polycystic ovarian syndrome (PCOS) is a prevalent endocrine illness that affects 5-10% of reproductive women globally. It is a multifaceted hormonal disorder characterized by the involvement of numerous molecular mechanisms that contribute to its development. This study investigates the effect of Artocarpus communis seed on the hormonal imbalance and P53, IRS, HsD17β2, FTO, and CYP11a genes expression in the ovaries of letrozole-induced polycystic ov [...]

Open Access Review

Exploring the Regenerative Potential of Stem Cells for Treating Eye Diseases: A Review of the New Findings

Received: 27 September 2023;  Published: 31 January 2024;  doi: 10.21926/obm.genet.2401212

Abstract

The escalating prevalence of vision loss due to eye diseases has instigated a quest for innovative therapies, given that conventional approaches often fall short in repairing and regenerating damaged eye tissues, particularly the retina. Stem cell-based interventions have emerged as a promising avenue, with numerous studies in animal models and human trials exploring their potential to enhance visual acuity. Beyond addressing conditions like age-related macular degeneration (AMD) and diabetic re [...]

Open Access Original Research

Investigating Cytogenetic Profiles in Couples Experiencing Recurrent Implantation Failure Post in vitro Fertilization

Received: 22 November 2023;  Published: 17 January 2024;  doi: 10.21926/obm.genet.2401211

Abstract

This study evaluates how chromosomal factors affect assisted reproduction techniques (ART) challenges among infertile couples, impacting their chances of conception. Chromosomal abnormalities, a leading cause of pregnancy failure and miscarriages, were investigated in a four-year retrospective study involving 100 patients with a history of infertility and unsuccessful IVF treatment. Among these cases, nine (9%) displayed aberrant chromosomal patterns, including balanced translocations (5%), sex [...]

Open Access Review

Krabbe Disease–To Add or Not to Newborn Screening?

Received: 07 September 2023;  Published: 12 January 2024;  doi: 10.21926/obm.genet.2401210

Abstract

Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the space of newborn screening (NBS) in the United States. Families continue to advocate for the addition of KD to the Recommended Uniform Screening Panel (RUSP) after being declined for the second time in February 2023. Even with significant progress in KD screening tests, uncertainty about the phenotypic presentations, and effectiveness of hematopoietic

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2023

Received: 04 January 2024;  Published: 05 January 2024;  doi: 10.21926/obm.genet.2401209

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2023. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally [...]
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