by Steven D. Ross  , Sydney Rudowski  and Shibani Kanungo

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

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 supportive care. Futur [...]

by Negar Noorbakhsh  , Mina Zamani  , Alireza Sedaghat  , Jawaher Zeighami  , Farangis Foroughi Behbahani  , Sahere Parvas  , Alihossein Saberi  , Mohammad Hamid  , Roya Ghanavati  , Gholamreza Shariati  and Hamid Galehdari

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

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 the pyrin protein. In this research, we aimed to examine the entire exons of MEFV fo [...]

by Walter Calderón-Gerstein  , Gabriela Torres-Samaniego  , Kevin Pazos-Sovero  , Mirella Calderón-Anyosa  , Merly Quisurco-Cárdenas  and Viviana Dorregaray-Lizárraga6

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

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 variables were anal [...]

by Kosuke Shigematsu  , Yukiko Mikami  , Mamiko Shinsaka  , Masanobu Kinoshita  and Yasushi Takai

Received: 29 June 2022;  Published: 28 March 2023;  doi: 10.21926/obm.genet.2301179

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children with CDM. This retrospective study examined 14 women with DM1 and their 14 children diagnosed with CDM. There were 11 CDM and 3 non-CDM patients. The correlation betwee [...]

by Elisavet Kouvidi  , Haralambia Tsarouha  , Christina Katsidi  , Sophia Zachaki  , Nikolaos Nitsos  , Sofia Samourgianidi  , Amelia Pantou  , Lazaros Leandros  , Emmanouel Kanavakis  and Ariadni Mavrou

Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178

Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with oligospermia -98 mild, 57 moderate, 13 severe- and 293 with normospermia) undergoing In Vitro Fertilization (IVF) between 2016-2022 were enrolled in the study. Thirty-eight fertile men were [...]

by Bhanuka Maheshwara Sisira Kumara Pahala Ralalage  , Nirmani Kaluarachchi  , Malshani Randunu  , Munshifa Jainulabdeen  , Rohini Nanthakumar  , Sameera Vishwakula  and B. Prasanna Galhena

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177

Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for prenatal diagnosis of aneuploidies by FISH. Since most of these assays are laboratory-developed tests, it is essential to validate them prior to their use in diagnosis. However, validation procedure [...]

by OBM Genetics Editorial Office

Received: 09 January 2023;  Published: 10 January 2023;  doi: 10.21926/obm.genet.2301176

An Interview with Dr. Yuri Shavrukov

by OBM Genetics Editorial Office

Received: 05 January 2023;  Published: 05 January 2023;  doi: 10.21926/obm.genet.2301175

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. 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 receive a voucher entitling them to a discount on their next LIDSEN publication and can download a certificate of recognition direct [...]

by OBM Genetics Editorial Office

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

An Interview with Dr. Masahiro Sato

by Fausto Garmendia-Lorena

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 National Epidemiology Center, Prevention and Disease Control, and the Panamerican Health Organization (PAHO) was conducted to analyze the occurrence of the COVID-19 pandemic in Perú from the beginning of the pandemic until March 7, [...]