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Table of Content

Open Access Technical Note

Improving the HealthCare of People with Dementia beyond the Diagnosis: The “Carlo Poma Dementia Care Pathway” Study Protocol

Received: 31 October 2018;  Published: 27 February 2019;  doi: 10.21926/obm.geriatr.1901036

Abstract

The WHO global action plan on the public health response to dementia 2017-2025 stressed the need to have a comprehensive approach with deep interconnections and cross-cutting elements through several action areas. As the elderly population grows worldwide, the number of patients with dementia increases rapidly because age is an important risk factor for developing late-onset dementia. Currently, dementia syndrome represents a true emergency. Once a diagnosis of dementia was made, informal caregivers, patients and t [...]

1794 14398

Open Access Hypothesis

Sporadic Alzheimer Disease and That Developing in Down’s Syndrome: The Immune System Attacking Self Rather Than Suppressing Infectious Disease Invaders, Toll Like Receptors Triggering Excessive Cytosolic Calcium, Excess Calcineurin Activation, Overexpression of Regulator of Calcineurin1, Runaway Beta-Amyloid Production, Synaptic Loss, Destructive Inflammation and Dementia

Received: 29 August 2018;  Published: 26 February 2019;  doi: 10.21926/obm.geriatr.1901035

Abstract

Alzheimer Disease may result from excessive stimulation of the innate immune system from development of underlying opportunistic infections and impaired age related self-recognition as non-self, due to immunodeficiency and immunosenescence, resulting in excessive inflammation and runaway Beta-amyloid production (a component of the innate immune system) causing cytosolic calcium overload. Excessive cytosolic calcium may cause over activation of calcineurin and inactivation of cis-trans prolyl isomerase (Pin1), with [...]

1703 10031

Open Access Review

Cell Senescence, Telomerase, and Senolytic Therapy

Received: 31 December 2018;  Published: 15 February 2019;  doi: 10.21926/obm.geriatr.1901034

Abstract

The consensus that cell senescence plays a role in age-related disease has prompted a number of potential clinical interventions, including attempts to reset cell senescence and attempts to remove senescent cells from aging tissues. The latter approach, senolytic therapy, has attracted considerable attention, but both theoretical considerations and published data suggest that the clinical benefits will be transient and that senolytic therapies will likely accelerate long-term degenerative disease. We review the ove [...]

2714 38560

Open Access Research Article

Effect of Six-Months Supplementation with Cholecalciferol on Glycemic and Blood Pressure Control in Elderly Type 2 Diabetic Patients with Vitamin D Deficiency: A Pilot Study

Received: 31 October 2018;  Published: 14 February 2019;  doi: 10.21926/obm.geriatr.1901033

Abstract

Background: It is well known that hypovitaminosis D has been associated with various cardio-metabolic disorders, though the pathogenetic link, if any, still remains unclear. Our aim was to evaluate in elderly uncontrolled non-insulin-treated type 2 diabetic patients with hypovitaminosis D, whether six-months vitamin D supplementation was able to improve glycemic control, lipid profile and blood pressure levels. Methods: In an open-label pilot study, thirty type 2 diabetic patients (age 71.5 ± 3.2 years, BMI [...]

1957 11284

Open Access Research Article

Key Dimensions of Therapeutic Lies in Dementia Care: A New Taxonomy

Received: 12 December 2018;  Published: 11 February 2019;  doi: 10.21926/obm.geriatr.1901032

Abstract

Background: Research suggests that the use of lies and deception is prevalent within dementia care settings, despite ongoing debates raised about the ethics of this approach. There has been increasing exploration of when and why deceptive practices should be used, but the lack of clarity as to what constitutes a lie has caused difficulty in ensuring that lies are used ethically. The aim of this study was to widen our understanding of the key dimensions that underpin the use of lies, and further to use this informat [...]

2366 18295

Open Access Editorial

Telomere Editorial - Perspectives on Telomeres and Aging

Received: 29 January 2019;  Published: 30 January 2019;  doi: 10.21926/obm.geriatr.1901031

Abstract

Telomere Editorial-Perspectives on Telomeres and Aging

2125 12721

Open Access Research Article

An Examination of How the ‘Household Model' of Care Can Contribute to Positive Ageing for Residents in the ‘Fourth Age’

Received: 15 November 2018;  Published: 24 January 2019;  doi: 10.21926/obm.geriatr.1901030

Abstract

Background: Promoting a good quality of life for the oldest members of society has become a top priority as evidenced in UK policy. The ‘household’ model is a departure from traditional approaches to care provision since it offers person-centred support - combing health and social care - to older people in specially-designed, small, homelike environments. Having gained increasing popularity in care homes across developed countries, the impact of this model of service delivery on residents’ quality of life and its c [...]

2523 15961

Open Access Research Article

Aging and the Art of Happiness: Time Effects of A Positive Psychology Program with Older Adults

Received: 31 October 2018;  Published: 10 January 2019;  doi: 10.21926/obm.geriatr.1901029

Abstract

Background: Research has shown that positive psychology interventions can enhance subjective well-being and reduce depression. However, the efficacy of these programs with older adult populations has been minimally studied. The present study studied the short and long term impact of an intervention enhancing happiness and overall mental well-being in older adults. Methods: The Art of Happiness is an 8-week program conducted at 2 senior centers in the state of Delaware. Each 90-minute class examined a different topi [...]

2440 17830

Open Access Research Article

Acceptance of Information and Communication Technologies for Healthy and Active Aging: Results from Three Field Studies

Received: 31 October 2018;  Published: 04 January 2019;  doi: 10.21926/obm.geriatr.1901028

Abstract

Background: Information and Communication Technologies (ICTs) have the potential to promote healthy aging and increase the quality of life of older adults. However, several barriers like access, performance, psychological, and privacy issues still exist against fully deploying ICT solutions for older adults. To determine useful methods to overcome such barriers, this work investigated the possible factors that prevent elders from directly accepting ICT services based on three field studies. Methods: The Unified The [...]

1949 11008

Open Access Review

What Activities Count as Active Aging? The Challenge of Classifying Diversity

Received: 07 November 2018;  Published: 26 December 2018;  doi: 10.21926/obm.geriatr.1804027

Abstract

Active aging is a concept used to describe and promote lifestyles that contribute to a healthy aging process. However, these lifestyles vary widely, and the concept of active aging encompasses many activities. This paper considers two axes to classify the range of activities that can contribute to active aging: the resources needed to carry out such activities (low and high-resource needs) and the main orientation of the activities (self-oriented vs. activity with others). To illustrate this classification, three t [...]

2216 13271

Open Access Concept Paper

Understanding the Functional Roles of Multi-Modal Processing and Gc Activation In Older People's Performance in Caregiving Training

Received: 05 October 2018;  Published: 25 December 2018;  doi: 10.21926/obm.geriatr.1804026

Abstract

The current article addresses the working memory constraints experienced by older people in caregiving training. Two different approaches aiming to free the older people’s working memory space were discussed. They include multi-modal visual processing and Gc activation. The emphasis was on the theoretical underpinnings of both approaches with empirical evidence from the research and literature to demonstrate their effectiveness in older people’s caregiving training. Further discussion was made with respect to the t [...]

1929 12273

Open Access Research Article

Wisdom and Curiosity Among Older Learners: Elucidating Themes of Well-Being from Beautiful Questions in Older Adulthood

Received: 30 October 2018;  Published: 24 December 2018;  doi: 10.21926/obm.geriatr.1804025

Abstract

Background: Wisdom and curiosity require greater attention in the lifelong learning literature pertaining to older adulthood. Lifelong learning can assist older adults in amalgamating wisdom and pursuing their curiosities, but how wisdom is amalgamated and how curiosity is pursued in older adulthood needs more exploration. Methods: This qualitative study investigates subthemes of wisdom amalgamation and curiosity pursuits elucidated from interviews of older adults who participated in a university-based lifelong lea [...]

2475 21787

Open Access Original Research

Simplifying Caregiver Resources in Eldercare: Identifying the Support Needs of Caregiving Employees

Received: 26 October 2018;  Published: 13 December 2018;  doi: 10.21926/obm.geriatr.1804024

Abstract

Background: The majority of long-term care provided to older adults and persons with disabilities is provided by unpaid family caregivers and friends. Employers have a stake in long-term care services as well since 60% of caregivers are employed outside the home, 49% have gone in late, left early, or taken time off during the day to deal with caregiving issues, and 15% have taken a prolonged leave of absence. Additionally, 87% of employed caregivers make telephone calls for caregiving from work. Presenteeism, the s [...]

1971 12337

Open Access Original Research

25-hydroxyvitamin D Levels are Associated with Cognitive Dysfunction in Type 2 Diabetes and the Metabolic Syndrome: A Preliminary Examination

Received: 01 August 2018;  Published: 05 December 2018;  doi: 10.21926/obm.geriatr.1804023

Abstract

Background: Type 2 diabetes (T2DM) and metabolic syndrome are linked to pathological changes in the brain and increased likelihood of cognitive impairment. 25-hydroxyvitamin D insufficiency is commonly found in this population and is associated with cognitive dysfunction in other patient groups. This preliminary study sought to examine whether 25-hydroxyvitamin D levels are is associated with cognitive deficits in this population. Methods: Twenty individuals with T2DM and metabolic syndrome (n = 20, aged 45 to 72) [...]

1901 12499

Open Access Review

A Call to Arms for the Aged Care Sector: A Spotlight on Systematic Abuse and Neglect of Older Disabled Persons

Received: 17 July 2018;  Published: 28 November 2018;  doi: 10.21926/obm.geriatr.1804022

Abstract

With rapidly aging populations worldwide there will be an increasing need to focus attention on the expected increase in disability with advancing age. Drawing upon established literature this paper aims to highlight the contribution of anthropology including selected research findings and contemporary understandings surrounding ageism, abuse and exploitation of older disabled persons. Health care providers within the context of the aged care sector are challenged to unburden themselves with negative images and pra [...]

2242 15297

Open Access Opinion

Do Social Isolation and Loneliness Kill People with Alzheimer's Disease?

Received: 04 October 2018;  Published: 26 November 2018;  doi: 10.21926/obm.geriatr.1804021

Abstract

Patients with AD have shortened life expectancy than the general older population is well established. Loneliness may be another risk factor to consider if we wish to understand and improve the premature mortality of AD.

1821 11395

Open Access Review

A is for Autophagy and Alzheimer's

Received: 01 August 2018;  Published: 25 November 2018;  doi: 10.21926/obm.geriatr.1804020

Abstract

Improved understanding of the underlying cellular dysfunction and resultant neuropathology of sporadic Alzheimer’s disease (AD) is needed to stem the anticipated public health crisis due to this increasingly common neurodegenerative disease. The four main risk factors for sporadic AD are age, female gender, genetic carriage of the APOE4 allele and type two diabetes mellitus (T2DM). Each of these four risk factors is associated with impaired and/or dysfunctional autophagy suggesting that perturbation of autophagy is [...]

1814 10730

Open Access Editorial

Behavioral Symptoms of Dementia

Received: 04 November 2018;  Published: 08 November 2018;  doi: 10.21926/obm.geriatr.1804019

Abstract

Behavioral symptoms of dementia

2118 13928

Open Access Original Research

Missing Voices and Aging in Prison: Religiosity’s Influence on Positive Aging through Forgiveness

Received: 24 August 2018;  Published: 06 November 2018;  doi: 10.21926/obm.geriatr.1804018

Abstract

Background: This study investigated the influence of positive psychological predictors, religiosity and forgiveness, on subjective and objective successful aging outcomes among incarcerated males. Methods: Male prison inmates (N=261), aged 45 to 82 and incarcerated in eight state-managed correctional facilities, were sampled from the prison census database (Oklahoma Department of Corrections or DOC). Exclusion criteria, per the Oklahoma DOC, were those housed in medical or psychiatric units, currently in solitary c [...]

1810 12118

Open Access Communication

Cognitive Reserve: Cognitive Abilities that Shield Against Dementia Symptomatology

Received: 19 June 2018;  Published: 31 October 2018;  doi: 10.21926/obm.geriatr.1804017

Abstract

Background: Cognitive reserve describes the capacity for cognitively normal functioning despite brain damage. Previous research on cognitive reserve outlined how characteristics of the brain promote good cognitive functioning, although it is not yet clear what cognitive processes help individuals to maintain good cognitive functioning in the face of brain damage. Methods: Narrative review of relevant articles identified in literature searches for cognitive and/or psychometric characteristics of cognitive reserve. R [...]

1975 12805

Open Access Review

Association between Oral Frailty and Geriatric Conditions

Received: 06 September 2018;  Published: 26 October 2018;  doi: 10.21926/obm.geriatr.1804016

Abstract

In Japan, the amount of aged hospitalized patients has been steadily increasing. Elderly people are susceptible to poor health, and the rise of elderly patients increases medical care expenses, which can cause economic strain. Therefore, it is clinically and socially important to reduce the occurrence of geriatric diseases, such as aspiration pneumonia and cognitive impairment. The daily care by family members is considered to be effective for the prevention of geriatric diseases, however, early detection of the di [...]

2691 14291

Open Access Original Research

Positive Aging a Two-Way Street: Healthy Lifestyle and Attitudes of Others

Received: 07 August 2018;  Published: 18 October 2018;  doi: 10.21926/obm.geriatr.1804015

Abstract

Background: Previous research has indicated the attitudes that others have toward older adults play an important role in their well-being. The current study contributes to the literature because it evaluates attitudes toward older adults. Methods: The participants included Caucasian and Indigenous people residing in Northern Ontario. All participants were asked to complete a demographics questionnaire and the Kogan’s Attitudes Toward Old People Scale (KAOP). Results: Results indicated that Indigenous participants h [...]

1763 10094

Open Access Original Research

New Holistic Enrichment Program Utilizing Maslow’s Hierarchy of Needs Designed for Institutionalized Residential Care Facilities

Received: 19 January 2018;  Published: 10 October 2018;  doi: 10.21926/obm.geriatr.1804014

Abstract

Background: The growing aging population requires care support resources which engage older adults in many different aspects of human functioning and experiences [1]. The purpose of this applied research project was to develop, and pilot test a holistic enrichment program manual used with Institutionalized Residential Care Facilities (IRCF) that encompasses motor skill, social, cognitive and self- enrichment outcomes, and to pilot test the enrichment program manual to be both cost-effective and a time savings to IR [...]

2665 18020

Open Access Original Research

Dementia: Aloneness, Social and Relational Engagement, and Psychological Growth in Families

Received: 23 June 2018;  Published: 08 October 2018;  doi: 10.21926/obm.geriatr.1804013

Abstract

Background: Minimal research investigates negative and positive perspectives of wellbeing in families, when a member with dementia is limited in their speech, or speech is absent. Methods: Seeking to explore this phenomenon further, semi-structured interviews sought negative and positive subjective interpretations from 27 family carers (mild to profound dementia). Interviews explored the participants' experience of changing relational and social engagement when a family member lives with dementia. Data were analyse [...]

2311 12696

Open Access Review

Online Dating Profiles and Problems in Older Adults: A Review

Received: 28 April 2018;  Published: 25 September 2018;  doi: 10.21926/obm.geriatr.1803012

Abstract

This narrative review is based on literature searches of PubMed and PsycINFO using the terms online dating in older adults. The papers that met inclusion criteria include content analyses of online dating profiles and interviews with online dating individuals. The issues that emerged from this literature included online versus off-line advantages and disadvantages, online profile characteristics that differ by age and gender and online use problems. Online versus off-line dating older adults have reputedly experien [...]

2558 30041

Open Access Review

Neuroimaging in Dementia

Received: 15 May 2018;  Published: 03 September 2018;  doi: 10.21926/obm.geriatr.1803011

Abstract

Amyloid positron emission tomography (PET), fluorodeoxyglucose (FDG) PET, and magnetic resonance imaging (MRI) are three modalities in the imaging of Alzheimer’s disease (AD). This article reviews the experience and data obtained from AD research using these techniques to understand the natural history of AD and to enhance therapeutic trials. It is now realised that their use can improve early detection of AD, and has opened a new corridor which may lead toward successful treatment.

2331 16206

Open Access Review

A Review of Oral Health in Older Adults: Key to Improving Nutrition and Quality of Life

Received: 26 April 2018;  Published: 27 August 2018;  doi: 10.21926/obm.geriatr.1803010

Abstract

With increased life expectancy coupled with falling birth rate, issues concerning population ageing have vital outcomes and effects for all aspects of human life particularly as it relates to older people’s health and health care. Among these issues are oral health diseases which present as major public health concerns and constitute significant burden to all regions of the world. FDI World Dental Federation in 2018, states that 90% of the entire world’s population will be afflicted by oral health problems in their [...]

2648 23229

Open Access Original Research

The Effect of the Human Plasma Molecule GHK-Cu on Stem Cell Actions and Expression of Relevant Genes

Received: 08 June 2018;  Published: 14 August 2018;  doi: 10.21926/obm.geriatr.1803009

Abstract

Background: Stem cell technology is a promising research area with a potential to create effective therapies for many degenerative diseases. However, to apply stem cell technology, we need to be able to identify and understand mechanisms that distinguish healthy regeneration processes from processes, which may result in chronic inflammation, scarring, fibrosis or cancer. GHK-Cu (glycine-L-histidine-lysine) is a small copper-binding peptide, which has a remarkable and well-documented ability to improve wound healing [...]

4093 121285

Open Access Original Research

Implementation of a Geriatric Patient-Centered Medical Home: the Geriatric Patient – Aligned Care Team (GeriPACT)

Received: 21 May 2018;  Published: 13 August 2018;  doi: 10.21926/obm.geriatr.1803008

Abstract

Background: A Veterans Health Administration (VHA) patient centered medical home, the Geriatric Patient- Aligned Care Team (GeriPACT). Methods: Plan-Do-Study-Act (PDSA) cycles regarding strategy, resource development, patient and caregiver experience of care, and clinical care process improvement. Stakeholder engagement for half-time operation with initial grant support for personnel who also had collateral duties. Tracking of operations data. Results: The clinic population grew from 200 to 627 over a 7-year period [...]

2338 13791

Open Access Original Research

Simultaneous Localization and Mapping (SLAM) for Route Reversal Learning

Received: 25 May 2018;  Published: 09 August 2018;  doi: 10.21926/obm.geriatr.1803007

Abstract

Background: In this paper, we describe the design of a virtual environment (VE) using Simultaneous Localization and Mapping (SLAM) to scan and replicate a real environment (RE) in a virtual domain. Compared to using a CAD software, SLAM allows for the replication of an RE quite easily and quickly. Methods: To test the user’s performance in a SLAM-based VE, we developed an immersive virtual reality setup using a specialized wheelchair (VRNChair) and a head mounted display (Oculus Rift DK2), and employed a knowledge [...]

1801 12159

Open Access Short Report

Positive Life Experiences Following a Dementia Diagnosis

Received: 15 June 2018;  Published: 26 July 2018;  doi: 10.21926/obm.geriatr.1803006

Abstract

Background: Given the stigma and fear associated with Alzheimer’s disease (AD), combined with the progressive nature of the disease, the diagnosis of AD or mild cognitive impairment (MCI) is often very difficult; yet, there may still be ways to experience some positive outcomes following diagnosis. We aim to assess the psychological impact of a diagnosis of MCI or early dementia on positive well-being. Methods: Individuals with a diagnosis of MCI or AD were mailed surveys with the Silver-Lining Questionnaire. Resul [...]

2130 13005

Open Access Case Report

The Positive Effect of Long-Term Repetitive Transcranial Magnetic Stimulation Therapy for Mild Cognitive Impairment: Three Case Studies

Received: 12 March 2018;  Published: 11 June 2018;  doi: 10.21926/obm.geriatr.1802005

Abstract

Background: Mild Cognitive Impairment [MCI] is a transition stage between normal aging and dementia. It seems to be useful to treat MCI before the onset of early dementia, though no pharmacological treatment is recommended [1]. These case studies aimed to assess the efficacy of long-term repetitive Transcranial Magnetic Stimulation [rTMS] treatment on cognition, and clinical changes, in elderly MCI patients. Methods: Three patients with MCI were treated by rTMS with different parameters of stimulation, targeting th [...]

2016 13358

Open Access Editorial

What is Geriatrics?

Received: 20 March 2018;  Published: 28 March 2018;  doi: 10.21926/obm.geriatr.1801004

Abstract

All of us are intuitively aware, and many of us explicitly aware as well, of the meaning of geriatrics as a specialty. After all, most of us practice geriatrics or we have been intimately involved with this area and we are know the reality of geriatrics. Or do we? Geriatrics is an oddly ill-defined specialty when you look at it more carefully. Some of us practice medicine, some of us practice in the social sciences, and many of us simply do our jobs day-to-day and try to get by. What we share, however, is the heart [...]

1721 9569

Open Access Editorial

Gene Therapy Comes of Age

Received: 12 December 2017;  Published: 24 December 2017;  doi: 10.21926/obm.geriatr.1704003

1785 9443

Open Access Review

The Feasibility and Necessity of a Revolution in Geriatric Medicine

Received: 19 February 2017;  Published: 13 April 2017;  doi: 10.21926/obm.geriatr.1702002

Abstract

Currently, geriatric medicine consists mainly of palliative treatment of the disorders that characterize senile decay. This is perfectly compatible with the prevailing view that aging is the inevitable result of multiple degenerative processes that cannot be treated effectively as they are, in themselves, inevitable and irreversible. This interpretation of aging clashes with a mass of data and arguments that, conversely, indicate that aging is a specific physiological function, favoured by supra-individual natural [...]

1561 12388

Open Access Editorial

OBM Geriatrics—An International Open Access Journal for 21st Century Geriatrics Medicine

Received: 11 December 2016;  Published: 06 January 2017;  doi: 10.21926/obm.geriatr.1701001

Abstract

Geriatrics, and much of clinical medicine, is on the verge of a profound transformational shift. Until now, there has been a sharp conceptual divide between diseases which can be readily and effectively treated, and diseases which we have thought to be beyond clinical intervention. In the first disease category, are many of the most common infections that respond to antibiotics and immunizations. We have made dramatic changes in the demographics and the mortality of many such treatable diseases. At the other extrem [...]

1724 17064

Open Access Original Research

Mutagenic Variations in Four Successive Generations of Cotton Varieties from Gamma Ray Treated Seeds

Received: 25 March 2026;  Published: 10 July 2026;  doi: 10.21926/obm.genet.2603347

Abstract

Seeds of cotton varieties Ganja-160, Ganja-182, and Ganja-183 were γ-irradiated with the isotope Co-60 at doses of 5, 10, 50, 100, 200, 300, and 400 Gy (at a dose rate of 0.342 rad/sec). Irradiated seeds, along with non-irradiated seeds (controls), were sown at the experimental base of the Center for Agricultural Sciences under open-field conditions in four replicates. The aim was to obtain mutant cotton lines with high quality and improved technological parameters, as well as resistance to various diseases and ext [...]

40 168

Open Access Original Research

A Machine Learning-Based Diagnostic Model for Prostate Cancer Using Circulating MicroRNA Expression Profiles

Received: 10 March 2026;  Published: 01 July 2026;  doi: 10.21926/obm.genet.2603346

Abstract

Prostate cancer (PCa) is one of the most common malignancies among men worldwide, and early detection is critical for improving clinical outcomes. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis due to their stability in blood and association with tumor-related molecular alterations. In this study, machine learning (ML) methods were applied to large-scale circulating miRNA expression data to develop a diagnostic model for PCa detection. Serum miRNA expression pr [...]

128 421

Open Access Research Article

Skin Cancer and Its Classification in the Aged: A Study of Melanoma and Squamous Cell Carcinoma Using OCT and AI

Received: 21 February 2026;  Published: 07 June 2026;  doi: 10.21926/obm.genet.2602345

Abstract

Skin cancer is a major disease that affects older subjects in the US. There are 56 million Americans 65 years and older in the US and the median age for melanoma diagnosis in the United States is 66 years. Each year 6 M patients are treated for skin cancer including basal cell carcinoma, squamous cell carcinoma, and melanoma. Both melanoma and squamous cell carcinoma can metastasize with melanoma being more likely to metastasize compared to squamous cell carcinoma and lead to death. The need to screen older subject [...]

267 724

Open Access Original Research

Clinical Manifestation of Osteogenesis Imperfecta in Indonesian Patients: A Multi-Centre Study

Received: 22 January 2026;  Published: 02 June 2026;  doi: 10.21926/obm.genet.2602344

Abstract

Osteogenesis Imperfecta (OI) is a rare genetic disorder caused by mutations in genes that encode collagen, with varying clinical presentations. While some studies in Indonesia have reported OI’s clinical features and treatments, there is a lack of comprehensive national data, with limited awareness and access to specialized care for affected individuals. This collaborative study, involving multiple centres across Indonesia, aims to address data fragmentation by analyzing patient characteristics, clinical manifestat [...]

268 942

Open Access Original Research

Prenatal Diagnosis of Severe Factor VII Deficiency in the Setting of Maternal Breast Cancer

Received: 23 January 2026;  Published: 26 May 2026;  doi: 10.21926/obm.genet.2602343

Abstract

Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder (RBD), presenting with various clinical manifestations. Given the heightened risk of life-threatening bleeding and fatal hemorrhagic complications, prompt detection of the disorder is critical, especially in cases with low FVII levels and a history of familial severe clinical presentations. In such cases, prenatal diagnosis (PND) emerges as a life-saving option. In this study, we reported two PNDs in a family with a positive family hi [...]

286 788

Open Access Original Research

Genetic Variants in Panamanian Patients with Hereditary Cardiomyopathies

Received: 26 January 2026;  Published: 20 May 2026;  doi: 10.21926/obm.genet.2602342

Abstract

Hereditary Cardiomyopathies (HCs) are defined as genetically determined cardiovascular diseases (CVDs) that frequently exhibit a familial inheritance pattern. These conditions include cardiomyopathies (CMs), arrhythmias (ARs), and other inherited cardiovascular syndromes. In Panama, the national incidence of Hereditary Cardiomyopathies remains unknown. The objective was to identify genetic variants in Panamanian patients diagnosed with HCs or cardiac arrhythmias and subsequently to identify carrier families to prov [...]

402 942

Open Access Case Report

Clinical and Molecular Cytogenetic Characterization of a De Novo 3q26.33-q28 Duplication: Case Report and Literature Review

Received: 06 February 2026;  Published: 19 May 2026;  doi: 10.21926/obm.genet.2602341

Abstract

Isolated duplications of the long arm of chromosome 3 (3q) are rare chromosomal abnormalities. To date, approximately 32 pure cases have been documented. Most reported 3q duplications arise from unbalanced translocations or inversion-loops mechanisms and are associated with additional chromosomal imbalances, making pure duplications particularly valuable for genotype-phenotype correlations. We report a 17-year-old female with a de novo pure tandem duplication of 3q26.33-q28 (~10.945 Mb). The clinical course was mar [...]

1374 2595

Open Access Review

A Multi-Omics Panorama of Acute Myeloid Leukemia: From Molecular Hallmarks to Clinical Translation

Received: 14 March 2026;  Published: 18 May 2026;  doi: 10.21926/obm.genet.2602340

Abstract

Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with genetic and clinical characteristics. Recent advances in multi-omic technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, immunomics, microbiome profiling, and both spatial and single-cell analyses, have greatly enhanced our understanding of AML pathobiology. Substantial multi-omic studies show that recurrent driver mutations not only impart traditional genomic lesions but also participate in chromatin re [...]

501 2043

Open Access Review

Latest Approaches in Cancer Therapy and Remaining Gaps

Received: 12 December 2025;  Published: 13 May 2026;  doi: 10.21926/obm.genet.2602339

Abstract

Cancer remains one of the major global challenges due to its complex and heterogeneous molecular nature across individuals. Recent advances in technology have enhanced the understanding of cancer’s molecular mechanisms, paving the way for the development of effective therapeutics. These include small-molecule inhibitors and monoclonal antibodies, used to interfere with the oncogenic signaling pathways. Immunotherapy has also emerged as a promising area in cancer therapy, with approaches such as immune checkpoint in [...]

382 969

Open Access Original Research

Clinical Variabilities of PTPN11 Pathogenic Variant in Indonesian Noonan Syndrome Patients

Received: 08 January 2026;  Published: 06 May 2026;  doi: 10.21926/obm.genet.2602338

Abstract

Noonan syndrome (NS) is an autosomal dominant disorder with a wide spectrum of symptoms and clinical phenotypes, including short stature, congenital heart defects (CHD), and distinctive facial features. A pathogenic variant in the PTPN11 gene is the major cause of NS. This is a preliminary study in Indonesia involving 29 patients with clinical features of NS. Detailed clinical and echocardiography data were collected. Genomic DNA was extracted from a peripheral blood sample. Exome sequencing or PCR followed by Sang [...]

446 2005

Open Access Review

Climate Change-Induced Stress and Neural Plasticity: Genetic and Epigenetic Mechanisms of Adaptation

Received: 09 January 2026;  Published: 15 April 2026;  doi: 10.21926/obm.genet.2602337

Abstract

Changes in the environment driven by climate change are becoming significant stressors that impact brain function, but the connections between these changes and neural plasticity remain unclear. This review aims to offer a comprehensive synthesis of the impact of climate-related stressors on neural plasticity via genetic and epigenetic mechanisms. A structured literature search (2000-2025) was conducted using PubMed, Scopus, and Web of Science, integrating evidence from in vitro, animal, and human studies. Findings [...]

574 2717

Open Access Case Report

A Novel Missense Variant in the CDH23 Gene is Segregated in an Iranian Family with Hearing Loss

Received: 25 November 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602336

Abstract

Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygote variant in the CDH23 gene (c.817T>C, p [...]

371 1178

Open Access Case Report

A Case of Prenatal Diagnosis of Apert Syndrome in the Second Trimester of Pregnancy

Received: 12 September 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602335

Abstract

Craniosynostosis is a disorder characterized by premature closure of cranial sutures, resulting in restricted skull growth perpendicular to the affected suture and compensatory growth in other directions. Over 180 syndromes have been classified under craniosynostosis, of which eight are associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene: isolated coronal synostosis, Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Beare–Stevens syndrome, Jackson–Weiss syndrome, Crouzon syndrome wi [...]

362 1165

Open Access Original Research

Complete Chloroplast Genome of Rauvolfia tetraphylla (Gentianales: Apocynaceae) and Phylogenetic Analysis

Received: 15 January 2026;  Published: 07 April 2026;  doi: 10.21926/obm.genet.2602334

Abstract

Rauvolfia tetraphylla L. (1753) is an important medicinal species of Apocynaceae, widely used for its rich indole alkaloids and related bioactive compounds. We report the first complete chloroplast genome of R. tetraphylla. The genome exhibits a typical circular quadripartite structure of 155,667 bp, with an overall GC content of 37.8%. The genome comprises a large single-copy (LSC) region of 86,332 bp, a small single-copy (SSC) region of 17,853 bp, and a pair of inverted repeat (IR) regions of 25,741 bp each. A to [...]

504 1584

Open Access Original Research

Comprehensive Cytogenetic and ISSR Analysis in the Context of Conservation of the Local Breed of Brown Carpathian Cattle Breed

Received: 01 December 2025;  Published: 01 April 2026;  doi: 10.21926/obm.genet.2602333

Abstract

The article reveals the variability of the genome of cattle of the local small-numbered domestic Brown Carpathian breed using cytogenetic and molecular genetic polylocus markers, and justifies the need to integrate local breeds into the modern system of agricultural production in accordance with FAO requirements. The work aimed to study the genetic uniqueness of cows of the brown Carpathian breed using cytogenetic and molecular genetic markers. The karyotype of the animals corresponded to the species norm and was 2 [...]

377 1226

Open Access Review

Challenges and Ethical Issues Related to Non-Invasive Prenatal Testing (NIPT)

Received: 21 January 2026;  Published: 26 March 2026;  doi: 10.21926/obm.genet.2601332

Abstract

Non-invasive prenatal testing (NIPT) is now standard in prenatal care in many countries, even though it was introduced only about 15 years ago. Due to its rapid adoption into decades-old prenatal care plans, gynecologists, obstetricians, and the general public still struggle to understand the possibilities, benefits, and limitations of NIPT. The biggest challenge facing NIPT is that comprehensive training for healthcare professionals and independent, unbiased information for pregnant women and their families about [...]

914 3542

Open Access Original Research

Assessment of Genetic Diversity and Polymorphism in Corylus avellana L. Pollen by Inter-Primer Binding Site Marker Analysis

Received: 26 December 2025;  Published: 23 March 2026;  doi: 10.21926/obm.genet.2601331

Abstract

Genetically conditioned variation in pollen has been demonstrated to have a substantial influence on reproductive mechanisms and population dynamics. The present study evaluated the genetic variability of 28 pollen samples of Corylus avellana L. using iPBS (Inter Primer Binding Sites Polymorphism) markers 1882 and 2152. The collection of biological material was undertaken at various locations across five European countries, with the objective of capturing a broad spectrum of environmental conditions. The genetic re [...]

426 1347

Open Access Original Research

Evaluation of Ten Bread Wheat (Triticum aestivum) Cultivars and Five of Their Hybrids under Salinity Stress at Germination and Seedling Stage

Received: 23 November 2025;  Published: 20 March 2026;  doi: 10.21926/obm.genet.2601330

Abstract

Salinity poses a danger to food security; hence, it is necessary to create crop types that can withstand salt to meet the growing demand for food. The goal of the current study was to examine the morphological and biochemical responses of wheat (Triticum aestivum L.) genotypes under salt stress. Salt tolerance in ten wheat cultivars and five selected F1 hybrids was assessed at the germination and seedling stage. Genotypes were assessed for seven traits under control (0 mM NaCl) and salinity stress (150, 200, and 25 [...]

401 1467

Open Access Review

Insights from Stem Cell and CRISPR-Based Therapies for Diabetes Mellitus: A Systematic Review

Received: 27 November 2025;  Published: 17 March 2026;  doi: 10.21926/obm.genet.2601329

Abstract

Diabetes mellitus (DM) is a metabolic disorder resulting from aberrations in insulin secretion or action. Diabetes mellitus still presents as a global health challenge. Conventional diabetes treatment may result in unwanted side effects and/or poor compliance. More personalized and curative approaches to the treatment of DM are required. The review explores recent developments in the fields of genetic and molecular underpinnings of DM, focusing on the revolutionary potential of cell- and Clustered Regularly Intersp [...]

1122 5273

Open Access Original Research

Determining the Role of KRAS in Patients with Different Demographic Profiles Diagnosed with Diabetes Mellitus: A Case-Control Study

Received: 06 December 2025;  Published: 15 March 2026;  doi: 10.21926/obm.genet.2601328

Abstract

Diabetes mellitus (DM) is widely spread among populations. About 3 of 10 people show the symptoms of this disease. Many factors may cause this illness in both types (type 1 and type 2 DM), mainly attributed to insufficient insulin production in type 1 DM or developing insulin resistance in type 2 DM. Genes that control specific biochemical pathways involving glucose metabolism can interfere with the manifestation of this disease when they undergo genetic changes like KRAS. Investigating the role of KRAS in DM. Abou [...]

403 1260

Open Access Review

Unraveling the Role of Non-Coding Genetic Variants in Male Infertility: Insights from the Chinese Population

Received: 03 December 2025;  Published: 09 March 2026;  doi: 10.21926/obm.genet.2601327

Abstract

Male infertility is a growing concern worldwide, with almost half of infertility cases being male, and the trend is rising in China as a result of multifaceted genetics-environment interaction. Important breakthroughs have been made in identifying mutations in annotated protein-coding genes associated with male infertility. However, a significant part of the human genome, namely non-coding DNA, has not yet been explored. Recent breakthroughs in the realm of high-throughput genomic technologies have unveiled the ind [...]

507 1877

Open Access Original Research

Analysis of Leukocyte Telomere Length in Brazilian People Living with HIV with and Without Cancer

Received: 31 May 2025;  Published: 04 February 2026;  doi: 10.21926/obm.genet.2601326

Abstract

Advances in antiretroviral therapy (ART) have normalized the life expectancy of people living with HIV (PLWH) but have been linked to a premature presentation of age-related comorbidities, including cancer. Telomere length (TL) is a marker of cellular aging and was investigated in blood leukocytes from 78 PLWH on ART, compared with 163 HIV-uninfected controls. The PLWH group was stratified into three subgroups: HIV-only (n = 57), HIV with AIDS-defining cancer (ADC, n = 9), and HIV with NADC (n = 12). Quantitative p [...]

779 1937

Open Access Review

Stem Cell-Derived Exosomes: Non-Coding RNA Cargos for Reprogramming the Tumor Immune Microenvironment

Received: 10 October 2025;  Published: 14 January 2026;  doi: 10.21926/obm.genet.2601325

Abstract

Stem cell-derived exosomes (SDEs) have emerged as revolutionary mediators in cancer immunotherapy, offering unprecedented potential to reprogram the immunosuppressive tumor immune microenvironment (TIME). These nano-sized extracellular vesicles, laden with non-coding RNAs (ncRNAs), serve as natural biocompatible carriers, capable of orchestrating immune cell dynamics, stromal remodeling, and tumor cell fate. Unlike their tumor-derived counterparts, which often propagate oncogenic signals, SDEs uniquely harbor immun [...]

978 3503

Open Access Original Research

Genetic Differentiation of Populations of Three Megalopolises by DNA Markers of the Y-Chromosome in Connection with the Problem of Developing Genetic Databases

Received: 04 June 2025;  Published: 12 January 2026;  doi: 10.21926/obm.genet.2601324

Abstract

The purpose of the study was to consider the distribution of Y-chromosome DNA markers in samples from the populations of the three largest megalopolises (Moscow, Saint Petersburg, and Novosibirsk) in the Russian Federation, in the context of developing genetic databases. The study aimed to compare the frequency profiles of 18 Y-chromosome STRs (Short tandem repeats) and the level of genetic differentiation. Based on FST estimates for the distribution of these 18 Y-chromosome STRs, the senior generations of Moscow a [...]

959 3901

Open Access Review

Genetic and Clinical Features of Tuberous Sclerosis Patients from the Republic of Bashkortostan

Received: 29 September 2025;  Published: 08 January 2026;  doi: 10.21926/obm.genet.2601323

Abstract

Tuberous sclerosis (TS) is one of the most common hereditary tumor syndromes, occurring with an average incidence of 1 in 9,000 newborns worldwide. The disease manifests itself through the development of tumors of the brain, kidneys, heart, lungs, and skin, along with characteristic depigmented spots. Tuberous sclerosis is caused by germline variants in the TSC1 (encoding hamartin) and TSC2 (encoding tuberin) genes. The hamartin-tuberin protein complex, together with the TBC1D7 molecule, inhibits the serine/threoni [...]

735 2211

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2025

Received: 04 January 2026;  Published: 04 January 2026;  doi: 10.21926/obm.genet.2601322

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2025. 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, reviewers can sign up to the Web of Sci [...]

557 1404

Open Access Short Review

The Application of Next-Generation Sequencing in Leukemia

Received: 02 May 2025;  Published: 25 December 2025;  doi: 10.21926/obm.genet.2504321

Abstract

Leukemia is a heterogeneous group of hematologic malignancies characterized by the dysfunctional proliferation of white blood cells in the bone marrow. Genetic alterations are important risk factors for the development and progression of leukemia, and their detection is crucial. Although many genetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR), have provided valuable information, they all have the limitation of incomplete genomic coverage. The ev [...]

909 3577

Open Access Case Report

Diagnostic Challenges of Rothmund-Thomson Syndrome in Infancy: A Case Report from a Resource-Limited Setting

Received: 26 October 2025;  Published: 11 December 2025;  doi: 10.21926/obm.genet.2504320

Abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by early-onset poikiloderma and multisystem abnormalities. Diagnosis is often confirmed through genetic testing, but in many resource-limited settings, molecular studies are unavailable, necessitating reliance on clinical and histopathological evaluation. We report a 1-year-old boy referred for assessment of progressive pigmented skin lesions. The patient was referred by a pediatrician with febrile neutropenia, bicytopenia suspicio [...]

825 2415

Open Access Original Research

Differential Expression of MiR-21 and MiR-19 in Biliary Atresia: Diagnostic Potential and Therapeutic Implications

Received: 24 May 2025;  Published: 26 November 2025;  doi: 10.21926/obm.genet.2504319

Abstract

Biliary atresia (BA), a severe pediatric liver disease of unknown etiology, causes neonatal jaundice, progressive cholestasis, and life-threatening liver fibrosis. Emerging evidence suggests microRNAs (miRNAs) – small non-coding RNAs that regulate gene expression by binding target mRNAs may play a role in BA pathogenesis. Circulating miRNAs have shown diagnostic potential for various diseases, prompting our investigation of miR-21 and miR-19 as potential biomarkers in BA. We conducted a case-control study comparing [...]

896 2716

Open Access Original Research

Evaluation of Full Blood Count–Derived Inflammatory Indices (SII, SIRI, PIV, NLR) in Behçet’s Disease Patients and Healthy Controls

Received: 01 October 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504318

Abstract

This study investigated three novel complete blood count–derived inflammatory biomarkers Systemic Immune-Inflammation Index (SII), Systemic Inflammation Response Index (SIRI), and Pan-Immune-Inflammation Value (PIV) and their relationship with clinical features of Behçet’s Disease (BD). Established markers, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), were also analyzed. Seventy HLA-B51–positive BD patients and 114 HLA-B51–negative healt [...]

820 3707

Open Access Review

Episomal Vectors: Principle, Utility, and Application

Received: 31 August 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504317

Abstract

An episomal vector is a plasmid- or virus-based vector that is present extrachromosomally in cells after transfection. Although it disappears during cell proliferation, it can exist in non-dividing cells, such as neuronal and muscular cells, and continues to express a gene of interest (GOI). Such episomal vectors are usually based on sequences from DNA viruses such as bovine papillomavirus 1 and Epstein-Barr virus. When cells are transfected with an episomal vector harboring a drug-resistance gene and subsequently [...]

2500 14653

Open Access Review

Physio-Chemical and Molecular Characterization of Salinity Stress in Wheat: Mitigation Approaches and Future Perspectives

Received: 09 July 2025;  Published: 10 November 2025;  doi: 10.21926/obm.genet.2504316

Abstract

Wheat constitutes the backbone of global food supplies, and its production is directly linked to the food and nutritional security of the mounting population. Wheat is vulnerable to abiotic stresses like heat, salinity, and drought. These abiotic stresses tend to reduce the food security of the increasing population by reducing wheat production and nutritional quality. Among abiotic stresses, salinity stress (SS) has emerged as the most prevailing stress in modern high-input wheat farming systems, as it severely ha [...]

1452 6056

Open Access Original Research

The Effect of Adding Mealworm, Probiotics, and Mealworm Plus Probiotics on IL-8 Gene Expression in Liver and Spleen Tissues of Broiler Chickens

Received: 30 July 2025;  Published: 30 October 2025;  doi: 10.21926/obm.genet.2504315

Abstract

Interleukin-8 (IL-8), a pro-inflammatory cytokine, plays a critical role in immune modulation in poultry and has potential applications in veterinary and human medicine. This study investigated the effects of dietary supplementation with mealworm (Tenebrio molitor), probiotics, or their combination on IL-8 gene expression in the livers and spleens of broiler chickens. A total of 160 one-day-old broiler chickens (Ross 308 strain) were assigned to four treatments (basal diet, basal diet + 0.2 g/kg probiotic, basal di [...]

940 3635

Open Access Review

Etiopathogenesis of Ebstein’s Anomaly Revisited

Received: 28 June 2025;  Published: 30 October 2025;  doi: 10.21926/obm.genet.2504314

Abstract

Ebstein's anomaly (EA) is a rare form of congenital heart disease (CHD), characterized by abnormal cardiac anatomy involving a defective tricuspid valve (TV), resulting in tricuspid regurgitation (TR) and cyanosis. EA is represented in different case scenarios with varying degrees of complexity across various age groups. It usually affects 0.2-0.7 out of 10,000 live births and accounts for 0.3%-0.6% of all CHD cases. While its occurrence is mainly sporadic, evidence from multiple studies suggests that EA can be ass [...]

5874 16459

Open Access Research Article

Potential Synergistic Interaction Between Curcumin and Sorafenib Enhances Cytotoxicity in NCI-H5222 Lung Cancer Cells

Received: 25 August 2025;  Published: 15 October 2025;  doi: 10.21926/obm.genet.2504313

Abstract

Non-small cell lung cancer (NSCLC), accounting for approximately 85% of lung cancer cases, remains a leading cause of cancer-related mortality. Genetic alteration such as EGFR mutations, tobacco exposure, and resistance to apoptosis, slows its progression and limits therapeutic success. Although targeted therapies and immunotherapy have improved outcomes for select patients, resistance remains a major challenge, highlighting the need for more effective treatments. This study investigated the potential synergistic i [...]

1012 4277

Open Access Original Research

Network Topology Similarities Across Cancer Types: Identifying Central Protein Hubs for Drug Discovery

Received: 18 June 2025;  Published: 13 October 2025;  doi: 10.21926/obm.genet.2504312

Abstract

A molecular-level understanding of cancer is essential for the development of effective therapies. Constructing protein-protein interaction (PPI) networks offers a valuable approach to identifying dysregulated driver genes and potential therapeutic targets. In this study, we modeled cancer PPI networks as metric spaces and applied mathematical and computational algorithms to analyze their structural and functional properties. Our findings reveal that these networks share a conserved architecture across different ca [...]

939 3648

Open Access Case Report

Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder

Received: 05 June 2025;  Published: 15 September 2025;  doi: 10.21926/obm.genet.2503311

Abstract

Netherton syndrome is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, leading to LEKTI protein dysfunction, impaired skin barrier function, and immune dysregulation. It manifests as a triad of ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), and atopic diathesis, often mimicking other inflammatory dermatoses. We report a 9-month-old Javanese Indonesian male infant presenting with extensive erythematous, scaly skin lesions and severe pruritus. Laboratory tests revealed [...]

890 3808

Open Access Original Research

Association of Dopamine D2 Receptor (DRD2) C939T and a Lack of Association of Tumor Necrosis Factor-β (TNF-β) +A252G Polymorphisms with Susceptibility to Migraine in A Northern Iranian Population

Received: 09 June 2025;  Published: 11 September 2025;  doi: 10.21926/obm.genet.2503310

Abstract

Genetic factors including TNF-β and DRD2 have been considered as essential components in the etiology of migraine. Several studies have investigated the association between TNF-β +A252G or DRD2 C939T polymorphisms and migraine risk, with debatable results. We aimed to examine whether TNF-β +A252G and DRD2 C939T polymorphisms confer genetic susceptibility to migraine in a Northern Iranian case-control sample. In total, 151 migraineurs (105 with MO 46 with MA) and 144 healthy control subjects were included in this st [...]

1527 4856

Open Access Case Report

The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegia

Received: 30 November 2024;  Published: 04 September 2025;  doi: 10.21926/obm.genet.2503309

Abstract

Biallelic pathogenic variants in C1QBP are an infrequent, yet increasingly recognised, cause of progressive external ophthalmoplegia (PEO). Although most published cases include cardiomyopathy, isolated late‑onset PEO without cardiac disease remains exceptional. To characterise, for the first time, a Moldavian‑Ukrainian pedigree in which homozygous c.612C>G (p.Phe204Leu) in C1QBP causes autosomal‑recessive PEO in the absence of cardiomyopathy, thereby expanding the phenotypic spectrum of C1QBP‑related disease. W [...]

805 3926

Open Access Review

Plant-Derived Nanoparticles in Cancer Therapy: A Comprehensive Review of Recent Advances and Future Prospects

Received: 04 July 2025;  Published: 18 August 2025;  doi: 10.21926/obm.genet.2503308

Abstract

Cancer continues to be one of the leading causes of global death, and conventional therapies have limited efficacy because of their toxicity, drug resistance, and off-target effects. Plant-derived nanoparticles (PDNPs) have emerged as suitable alternatives as they have biocompatibility, biodegradability, and multifunctional therapy. In this review, we discussed the recent advancements in PDNPs for cancer therapy, including the green synthesis of PDNPs using phytochemical (flavonoids, terpenoids) reducing and cappin [...]

1819 9357

Open Access Review

Trends in Breast Cancer Epigenetics Research from 1993 to 2023: A Bibliometric Analysis

Received: 12 January 2025;  Published: 15 August 2025;  doi: 10.21926/obm.genet.2503307

Abstract

Breast cancer is a significant health problem. Epigenetic alterations that influence gene expression were implicated in breast cancer pathogenesis. Bibliometric analysis can be done to evaluate the existing literature and identify gaps and emerging trends. This bibliometric analysis aims to provide an overview of the current landscape of global breast cancer epigenetics research, identify existing networks of countries and authors’ keywords, and assess the association of a country’s socioeconomic indica [...]

924 5693

Open Access Original Research

Morpho-Biochemical Characterization and Genetic Analyses of the Traits of Mungbean Genotypes Confined with Yield Attributing Traits and Salinity Stress Tolerance

Received: 31 May 2025;  Published: 07 August 2025;  doi: 10.21926/obm.genet.2503306

Abstract

Low phenotypic and genotypic variability for yield-attributing traits and susceptibility to salinity stress are constraints of mungbean productivity. The objectives of the study are to phenotype a set of exotic mungbean genotypes for yield-attributing traits and salinity tolerance, as well as to conduct genetic analysis of these traits for efficient selection. Three consecutive experiments were conducted to fulfill these objectives. In the first experiment, 26 mungbean genotypes were evaluated for yield traits unde [...]

1456 7112

Open Access Original Research

Effects of Plastoquinone Derivative 10-(6'-Plastoquinonyl) Decyltriphenylphosphonium on Rice Seeds Grown under Complete Flooding Conditions

Received: 20 February 2025;  Published: 22 July 2025;  doi: 10.21926/obm.genet.2503305

Abstract

The present work aimed to study the effects of 10-(6'-plastoquinonyl) decyltriphenylphosphonium (SkQ1) on rice (Oryza sativa) plants germinating under flooding conditions. The influence of different concentrations of SkQ1 (mitochondria-targeted antioxidant) on resistance to complete flooding was assessed on rice seedlings of the Kuboyar variety. The total level of reactive oxygen species (ROS), H2O2-induced chemiluminescence, and gene expression of antioxidant enzymes (OsSODA (superoxide dismutase A), OsSODB (s [...]

889 4005

Open Access Review

Leveraging DNA Databases to Reconnect Families Separated by Conflicts and Humanitarian Crises

Received: 14 May 2025;  Published: 15 July 2025;  doi: 10.21926/obm.genet.2503304

Abstract

Ongoing global conflicts and humanitarian crises have led to unprecedented displacement, including millions of separated children, many of whom, especially infants, cannot be traced using traditional methods. This paper advocates for the establishment of a voluntary, privacy-protected global DNA database, managed by an extra-governmental entity, to facilitate family reunification. It presents a comprehensive socio-technical framework that synthesizes a novel operational model with the requisite legal and ethical sa [...]

1195 5818

Open Access Original Research

Impact of Normalization Methods on Metagenomic Characterization of Amaranthus Cruenthus var. Pribina-Associated Microbiomes Under Cadmium Stress

Received: 17 January 2025;  Published: 15 July 2025;  doi: 10.21926/obm.genet.2503303

Abstract

The study of endophytic and rhizosphere microbiota offers considerable potential for applications in agriculture, biotechnology, and bioremediation, given the phytoremediation capacity of Amaranthus cruentus var. Pribina performed a detailed analysis of the root and rhizosphere microbial communities under cadmium (Cd) stress. Although metagenomics provides powerful tools for microbial community profiling, the reproducibility and interpretability of the results are strongly influenced by the data processing strategi [...]

1350 4534

Open Access Original Research

Evaluation of Polylocus Spectra of DNA Fragments of the Genus Eguus Using ISSR-PCR Markers

Received: 16 April 2025;  Published: 07 July 2025;  doi: 10.21926/obm.genet.2503302

Abstract

Characterization of the non-coding part of the transcriptome is a supplement to the annotation of the genome of living organisms. According to ISSR-fingerprinting data, information is obtained about ancient gene pools, modern gene pools, genetic variability and conservation of breeds and species of farm animals. The aim of the study is to study the molecular genetic component and phylogenetic relationships in the aboriginal Hutsul horse breed and fossil remains of ancient horses using ISSR-PCR markers. The polymorp [...]

870 3828

Open Access Original Research

Serum Shock Enhances Endogenous Melatonin Production and Mitochondrial Gene Regulation in U87-MG Glioblastoma Cells

Received: 14 March 2025;  Published: 07 July 2025;  doi: 10.21926/obm.genet.2503301

Abstract

Glioblastoma (GBM) is the most aggressive primary brain tumor, with a poor prognosis despite advancements in understanding its biology. Melatonin, a key regulator of metabolism and cellular homeostasis, is known for its neuroprotective and anti-cancer properties. While traditionally linked to pineal gland secretion, emerging evidence suggests that glioblastoma cells can produce melatonin within their mitochondria. This study investigates whether serum shock can influence endogenous melatonin production and mitochon [...]

1117 4930

Open Access Original Research

Gut Microbial Similarity Analysis in Mono and Dizygotic Twins Discordant for Down Syndrome

Received: 05 October 2024;  Published: 03 July 2025;  doi: 10.21926/obm.genet.2503300

Abstract

To investigate the potential impact of the additional chromosome 21 on the gut microbiome in patients with Down syndrome (DS), two monozygotic (MZ) and two dizygotic (DZ) twin pairs discordant for DS were studied. Whole-genome shotgun sequencing was conducted to analyze the taxonomic and functional profiles of the gut microbial community in the twins and assess whether the gut microbiome composition influences the development of psychological pathologies. Sequencing generated a total of 2,338,132 reads, combined ac [...]

911 5190

Open Access Original Research

The Identification and Classification of Novel Genetic Variants in the MCPH1 Gene Suggest Association with Non-Syndromic Hearing Impairment

Received: 16 January 2025;  Published: 26 June 2025;  doi: 10.21926/obm.genet.2502299

Abstract

Human mouse orthologous hearing impairment genes were investigated in African patients for causal variants. A homozygous mutation in exon 13 of the microcephalin1 (MCPH1) gene, which encodes the BRCA1-carboxyl terminal 2 domain (BRCT2), was reported in non-syndromic hearing impairment (NSHI). The present study aims to investigate further the emerging roles of MCPH1 in the genetics of NSHI in African patients in the new and larger cohorts. This study screened multiplex families and isolated cases, including 90 patie [...]

1009 4496

Open Access Original Research

A New Database on Constitutional Human Ring Chromosomes

Received: 20 April 2025;  Published: 26 June 2025;  doi: 10.21926/obm.genet.2502298

Abstract

Human ring chromosomes (RCs) constitute one of the rarest described inborn chromosomal rearrangements. At first, they seem to be just another subgroup of structural chromosomal aberrations like translocations, inversions, or insertions. However, RCs are more complex, as they almost always occur in conjunction with a mosaic karyotype constitution, resulting in mosaic monosomy of the affected chromosome. Most likely due to the latter effect, a genotype-phenotype correlation is still not available. To proceed with sol [...]

901 5410

Open Access Case Report

Papillon-Lefèvre Syndrome and Vitamin D Deficiency: An Intriguing Clinical Observation

Received: 06 April 2025;  Published: 24 June 2025;  doi: 10.21926/obm.genet.2502297

Abstract

We report the case of a 3-year-old girl from a consanguineous marriage, initially diagnosed with vitamin D deficiency–associated periodontitis following early tooth mobility. Despite supplementation, her condition worsened with the onset of palmoplantar hyperkeratosis. Further investigations revealed the diagnosis of Papillon-Lefèvre Syndrome (PLS), a rare genetic disorder causing severe periodontitis and palmoplantar keratosis. The patient was managed with vitamin D supplementation, dental extractions, and a remov [...]

819 5325

Open Access Original Research

Reciprocal Translocations in Prenatal Diagnosis: Latin America Data

by Luis A. Méndez-Rosado  , Luis A. Sotillo-Bent  , José Sotillo-Lindo  , Anduriña Barrios-Martínez  , Dulce Hechavarria-Estenoz  , Margarita Mayeta  , Jose Hernández-Gil  , Hector Pimentel-Benitez  , Maria Elena de la Torre  , Hibo Moreno  , Pedro Díaz-Véliz  , Alicia Vaglio  , Roberto Quadrelli  , Diana Sánchez-Peñarate  , Mabel Cerrillo-Hinojosa  , Pedro Carbonell-de la Torre  , Judith Pupo-Balboa  , Michel Soriano-Torres  , Marilyn del Sol  , Arlay Castelvi  , Enny Morales  , Damarys García  , Rocío Serrano-Hidalgo  , Catalina Obando  , Liz Pardo  , Laritza del Toro  , Miladys Martinez  , Conrado Uria-Gómez  , Maria G Arteaga Ontiveros  , Mayte Castro  , Odalys Rabelo  , Sahily Miñoso  , Deysi Licourt  , Irenia Blanco  , Roberto Lardoeyt-Ferrer  , Nereida Gonzalez  and Olga Quiñones-Masa
Received: 24 November 2024;  Published: 10 June 2025;  doi: 10.21926/obm.genet.2502296

Abstract

Generally, in reciprocal translocations there are no gains or losses of genetic material. From the clinical point of view, its primary importance lies in the fact that it can generate errors due to incorrect chromosome segregation during meiosis in carriers. On the other hand, other mutations are less frequent in the genome, specifically in the DNA breakpoints implied in these translocations. In Latin America there are no large-scale reports about this topic. To contribute to the study of reciprocal translocations [...]

1555 8046

Open Access Original Research

In Silico Evaluation of Anti-SARS-CoV-2 Bioactive Compounds from Jatropha curcas

Received: 12 March 2025;  Published: 25 May 2025;  doi: 10.21926/obm.genet.2502295

Abstract

Jatropha curcas L., a medicinal shrub renowned for its diverse phytochemicals, has been traditionally used to treat various ailments, including ulcers, neoplasms, and dermatological conditions. Despite its pharmacological promise, its potential against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) remains unexplored. This study investigates the antiviral efficacy of J. curcas phytochemicals targeting the SARS-CoV-2 main protease (Mpro), a critical enzyme for viral replication, using advanced computat [...]

1291 6493

Open Access Case Report

Unraveling and Expanding the Genotypic Spectrum of Kabuki Syndrome with Identification of de Novo Protein-Truncating Mutations in the KMT2D Gene: Insights into the Role of Premature Stop Codons in the Etiology of the Disorder

Received: 16 January 2025;  Published: 21 May 2025;  doi: 10.21926/obm.genet.2502294

Abstract

Kabuki Syndrome (KS) is a rare, multisystem congenital disorder with five foremost clinical manifestations encompassing dysmorphic facial characteristics, postnatal growth constraint, craniofacial/skeletal anomalies, mild to moderate intellectual disability, and dermatoglyphic abnormalities. We analyzed two unrelated Iranian patients suspected of having KS using whole-exome sequencing. An in silico analysis was performed to evaluate the potential effects of the discovered variants on the structure and function of t [...]

1235 7161

Open Access Review

The Roles of IL-6, IL-8, and TNF-α in Pediatric Immune Defense and Infection Severity

Received: 12 December 2024;  Published: 23 April 2025;  doi: 10.21926/obm.genet.2502293

Abstract

Cytokines are pivotal regulators of immune responses. They are critical in mediating inflammation, recruiting immune cells, and driving pathogen clearance. Among these, interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-alpha (TNF-α) stand out as key players in pediatric immunity, as they exhibit unique expression patterns that reflect the dynamic nature of the developing immune system. This review explores the dual roles of these cytokines in orchestrating immune defense and their potential as d [...]

1577 15472

Open Access Review

Agrobacterium-Mediated Genome Modification for Improvement of Oil Palm Planting Materials

Received: 18 December 2024;  Published: 15 April 2025;  doi: 10.21926/obm.genet.2502292

Abstract

Oil palm is the most productive vegetable oil crop compared to other oil-bearing crops because it produces the highest oil yield per hectare. Palm oil is very versatile since it is used for producing food and beverages, personal care and cosmetics, cleaning products, biofuel, and bioenergy. To cater to the increasing demand in the global palm oil market, much research has been done to improve the oil's yield and modify its quality in addition to the oil palm height through breeding. Due to its long breeding cyc [...]

2418 17546

Open Access Case Report

Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Review

Received: 22 November 2024;  Published: 14 April 2025;  doi: 10.21926/obm.genet.2502291

Abstract

Knobloch Syndrome (KS) is a rare genetic disorder characterized by ocular abnormalities and central nervous system (CNS) defects, which are attributed to collagenopathy. The primary gene implicated in KS is COL18A1, which encodes the alpha chain of type XVIII collagen. This type of collagen functions as a proteoglycan, predominantly located in the basement membrane of human tissues. This study examined an Iranian female presenting with symptoms of horizontal nystagmus, strabismus, and suspected vision loss, with a [...]

1196 6693

Open Access Case Report

Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case Report

Received: 19 March 2024;  Published: 03 April 2025;  doi: 10.21926/obm.genet.2502290

Abstract

X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe, through an 8-year follow-up case report, the clinical approach adopted in managing dental features in both primary and permanent dentition in a child diagnosed with XLHR. The oral manifestations were mainly premature e [...]

894 4300

Open Access Review

Diagnosis of Infectious Diseases by CRISPR/Cas System

Received: 18 November 2024;  Published: 01 April 2025;  doi: 10.21926/obm.genet.2502289

Abstract

Since the initial discovery of the CRISPR system in bacteria as an adaptive immune system, a deeper understanding of CRISPR structure and function has made it possible to perform gene editing, gene therapy, and revolutionize the diagnostic field. One of the exciting applications of the CRISPR-Cas system is used as a tool for the rapid diagnosis of infectious diseases and their treatment and the prevention of infection spread among people. The CRISPR-based diagnostic system could be the next-generation standard beca [...]

1828 22049

Open Access Original Research

Investigating Interest in Cancer Predisposition Testing and Expanded Carrier Screening in Routine Gynecologic Care among Pregnancy Capable Individuals

Received: 28 May 2024;  Published: 25 March 2025;  doi: 10.21926/obm.genet.2501288

Abstract

The goal of this qualitative study was to explore pregnancy capable individuals’ perceptions of having cancer predisposition testing (CPT) and/or expanded carrier screening (ECS) during routine gynecologic care and how these perceptions differ across individuals. A thematic analysis was conducted based on qualitative data from 26 semi-structured interviews with women between 20 and 35 years of age at a single academic health center in the Mountain West of United States. The analysis indicated that participants’ int [...]

1360 5140

Open Access Original Research

Potential CRISPR-Cas9-based Antiviral Activity Against Hepatitis C Virus in Liver Cancer

Received: 04 July 2024;  Published: 28 February 2025;  doi: 10.21926/obm.genet.2501287

Abstract

Hepatitis C virus (HCV) is a primary global health concern, and though therapeutic options have improved, no very effective vaccine is available despite decades of research. The health and vitality of the organism are related to the result of homeostatic regulation of the internal environment. In contrast, it follows that disruption of homeostatic mechanisms leads to disease, particularly in liver cancer. Since HCV can rapidly mutate to evade the immune response, an effective HCV vaccine must rely on the identifica [...]

1382 6071

Open Access Research Article

Inheritance Studies of Root-Knot Nematode (Meloidogyne Species) Resistance in Tomato (Solanum Lycopersicum L.)

Received: 22 August 2024;  Published: 28 February 2025;  doi: 10.21926/obm.genet.2501286

Abstract

Plant-parasitic nematodes threaten tomato cultivation in Ghana, particularly the root-knot nematodes, causing substantial economic yield losses. However, these yield losses can be prevented through resistant varieties. This study aims to determine the type of gene action, heritability, heterosis and inbreeding depression for root-knot nematode resistance in tomato. A cross between CSIR/CRI-P005 (P1), an adapted variety with good yield but susceptible to root-knot nematode and VFNT (P2), which is resistant to root-k [...]

984 5581

Open Access Case Report

When Should We Raise Clinical Suspicion of DiGeorge Syndrome: Two Case Reports from a Tertiary Hospital in Indonesia

Received: 30 December 2024;  Published: 14 February 2025;  doi: 10.21926/obm.genet.2501285

Abstract

DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two cases of DiGeorge syndrome, each demonstrating a different combination of clinical phenotypes. Two girls (2 years-3 months old and 2 years-2 months old) were diagnosed with 22q11.2DS following chromosomal microarray anal [...]

1212 9443

Open Access Case Report

Interstitial 1p36 Deletion Syndrome Encompassing CAMTA1 Gene: A Case Report

Received: 29 November 2024;  Published: 05 February 2025;  doi: 10.21926/obm.genet.2501284

Abstract

Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 intragenic deletion, including intellectu [...]

1618 7948

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