Table of Contents

Open Access

ISSN 2577-5790

OBM Genetics , Volume 6 , Issue 4 (2022)

Pages: 141

Published: March 2023

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

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Cover Story:Non-mosaic double aneuploidy in newborns is rare, and Murry et al. describe two (48,XXY,+18 and 48,XXY,+21). Possible mechanisms include a) two meiotic nondisjunction events in one (ovum) gamete or b) one meiotic nondisjunction event in both gametes (ovum and sperm), resulting in 48 chromosomes. Two meiotic nondisjunction events are extraordinary. View this paper.

Volume 6,Issue 4

Open Access Interview

An Interview with Dr. Masahiro Sato

Received: 13 December 2022;  Published: 14 December 2022;  doi: 10.21926/obm.genet.2204174


An Interview with Dr. Masahiro Sato

Open Access Review

The Actual Situation of Covid-19 Infection at High Altitudes in Perú

Received: 03 August 2022;  Published: 12 December 2022;  doi: 10.21926/obm.genet.2204173


This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú. An observational, descriptive, retrospective and longitudinal study based on information from the Peruvian Ministry of Health, COVID-19 Situational Room, warning from the [...]

Open Access Original Research

Cytohistopathological Correlation of 884 Cervical Pap Smears as Bethesda System 2014: A Hospital-Based Study

Received: 14 September 2022;  Published: 22 November 2022;  doi: 10.21926/obm.genet.2204172


Cervical carcinoma is most common in Indian women of which Rural women are predominantly affected. The most common etiological factor is human papillomavirus (HPV ). The present study aims to assess the diagnostic accuracy, sensitivity, specificity, and different patterns of cervical Pap smears by comparing histological findings. The index study is a retrospective cross-sectional analytical study. The data was collected at the pathology department from May 2017 to December 2019 according to hosp [...]

Open Access Review

Abiotic Stress: Interplay Between ROS Production and Antioxidant Machinery, Signaling, and ROS Homeostasis

Received: 29 August 2022;  Published: 09 November 2022;  doi: 10.21926/obm.genet.2204171


Climate change poses a substantial threat to global crop yield. Moreover, crop production is likely to reduce in the near future because of increasing average temperatures, widespread extreme climate events, and the loss of agricultural land. Abiotic stresses are the major factors limiting the growth and development of various crops worldwide. They cause the buildup of reactive oxygen species (ROS), which leads to cellular damage in a variety of subcellular compartments in plants. The metabolic [...]

Open Access Review

Novel Insights into Epigenetic Control of Autophagy in Cancer

Received: 28 June 2022;  Published: 08 November 2022;  doi: 10.21926/obm.genet.2204170


The autophagy mechanism recycles the damaged and long-standing macromolecular substrates and thus maintains cellular homeostatic and proteostatic conditions. Autophagy can be an unavoidable target in cancer therapy because its deregulation leads to cancer formation and progression. Cancer can be controlled by regulating autophagy at different genetic, epigenetic, and post-translational levels. Epigenetics refers to the heritable phenotypic changes that affect gene activity without changing the s [...]

Open Access Original Research

Comparison of Sputum and Oropharyngeal Microbiome Compositions in Patients with Non-Small Cell Lung Cancer

Received: 01 August 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204169


Recent findings indicate that the microbiota is involved in the development of lung cancer by inducing inflammatory responses and generating genome damage. This study aimed to compare sputum microbiomes from the mouth and oropharynx in non-small cell lung carcinoma (NSCLC) patients. A second goal was to search for bacterial taxonomic units that behave differently in the microbiome of NSCLC patients and healthy subjects. In the study, the taxonomic composition of the sputum and oropharyngeal micr [...]

Open Access Case Report

Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literature

Received: 30 June 2022;  Published: 07 November 2022;  doi: 10.21926/obm.genet.2204168


Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas monosomy of X is the only such type of aberration that may be compatible with life. It is hypothesized that two successive malsegregation events must occur i [...]

Open Access Research Article

“Not Private at All:” Comparative Perspectives on Privacy of Genomic Data, Family History Data, Health-Related Data, and Other Personal Data

Received: 09 August 2022;  Published: 31 October 2022;  doi: 10.21926/obm.genet.2204167


People choose how and if to generate and disclose not just personal genomic data, but also multiple other types of personal health and non-health related data. To contextualize choices about genetic testing and genetic data disclosure, we explored perspectives of genomic data privacy and disclosure compared to other types of data. We conducted a qualitative focus group study with adult members of an integrated U.S. health system, using administrative data to stratify our sample by age and by rac [...]