Open Access Research Article

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

by Negar Noorbakhsh  , Mina Zamani  , Alireza Sedaghat  , Jawaher Zeighami  , Farangis Foroughi  , 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

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 missen [...]

73 547

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

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

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 popul [...]

90 721

Open Access Original Research

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1

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

Abstract

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 [...]

112 914

Open Access Original Research

Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience

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

Abstract

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-eig [...]

139 1417

Open Access Technical Note

Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosis

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

Abstract

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 lab [...]

160 1522

Open Access Interview

An Interview with Dr. Yuri Shavrukov

by OBM Genetics Editorial Office

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

Abstract

An Interview with Dr. Yuri Shavrukov

95 1173

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2022

by OBM Genetics Editorial Office

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

Abstract

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 c [...]

115 1091

Open Access Interview

An Interview with Dr. Masahiro Sato

by OBM Genetics Editorial Office

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

Abstract

An Interview with Dr. Masahiro Sato

146 1389

Open Access Review

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

by Fausto Garmendia-Lorena

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

Abstract

This study aimed to reveal the evolution and characteristics of the COVID-19 pandemic in high-altitude areas of Perú.

167 1517

Open Access Original Research

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

by Dr Anju Khairwa

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

Abstract

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 c [...]

188 1566