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Open Access

ISSN 2577-5790

© 2023 by the authors; CC BY 4.0 licence

OBM Genetics , Volume 7 , Issue 2 (2023)

Pages: 65

Published: September 2023

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

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Cover Story: SARSCov2 can cause hypoxia, due to lung damage and inflammation, while high altitude decreases available oxygen. High-altitude dwellers have developed physiological adjustments to compensate for a low-oxygen environment. Evaluating how COVID-19 hypoxia relates to high altitude hypoxia will teach us more about acute-on-chronic human adaptation to this pathological state.View this paper.

Volume 7,Issue 2

Open Access Research Article

Relationship between Hearing Loss Risk Factors and Hearing Screening Results in Newborns: A Retrospective Cross-Sectional Study

Received: 02 January 2023;  Published: 29 June 2023;  doi: 10.21926/obm.genet.2302184

Abstract

Congenital hearing loss can have a long-term impact on children’s speech and communication abilities. Early detection and intervention of hearing loss are important in newborns. It is well known that there are several risk factors for hearing loss; however, the relationship between these risk factors and hearing screening tests remains uncertain in Iran. Therefore, this study aimed to explore the relationship between hearing loss risk factors and Automated Auditory Brainstem Response (AABR) and [...]

Open Access Review

Mycobacterium Tubercular Mediated Inflammation and Lung Carcinogenesis: Connecting Links

Received: 03 September 2022;  Published: 21 June 2023;  doi: 10.21926/obm.genet.2302183

Abstract

Lung cancer is a leading cause of death among all the cancer worldwide and it has the highest occurrence and mortality rates. Mycobacterium tuberculosis (MTB) induced tuberculosis has been known as one of the risk factors for lung carcinogenesis. The exact mechanism of MTB is understood to date. Several research and epidemiological studies about the link between tuberculosis and lung cancer exist. It has been proposed that tuberculosis causes chronic inf [...]

Open Access Review

Spinal Muscular Atrophy: An Overview

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182

Abstract

Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and su [...]

Open Access Research Article

Molecular and in Silico Analysis of MEFV Variants in Familial Mediterranean Fever Patients in Southwest Iran

Received: 11 October 2022;  Published: 12 May 2023;  doi: 10.21926/obm.genet.2302181

Abstract

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in MEFV. These mutations can affect the dysregulation of inflammatory processes in the human body and lead to fever and pain in the chest and abdomen. Many known missense mutations in MEFV are linked to FMF disease. Mutations in MEFV in most cases are located on the short arm of chromosome 16 and can impair the function of t [...]

Open Access Research Article

Relationship between the Severity of Chest CT Scan Lesions, Arterial Oxygenation and Inflammatory Markers in High – Altitude Patients with Covid-19

Received: 01 December 2022;  Published: 19 April 2023;  doi: 10.21926/obm.genet.2302180

Abstract

This study aims to determine the relationship between the severity of lung tomographic compromise with arterial oxygenation and inflammatory markers in patients with COVID-19, and to evaluate the relationship between the CTSS tomographic severity score and the mortality risk in a high-altitude population. A retrospective, longitudinal study reviewed medical records between January and July of 2021 at the Daniel Alcides Carrión Regional Teaching Clinical Surgical Hospital in Huancayo. Categorical [...]
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