by Meshari A. Alzahrani  , Mohammad A. Alghafees  , Lama H. Aldosari  , Abdulaziz K. Almaymuni  , Abdulltaif M. Altalhah  , Mohammed M. Abualgasem  and Basel O. Hakami

Received: 19 April 2024;  Published: 30 September 2024;  doi: 10.21926/obm.genet.2403265

The total lack of spermatozoa in the ejaculate is known as Azoospermia. It is the most severe and significant contributor to male infertility. Therefore, the purpose of this study is to assess the status of Azoospermia and its etiologic factors that contribute to male infertility in Saudi Arabia. This study included all published studies written in English that were published in Saudi Arabia. Online searches via PubMed and Google Scholar were conducted from their inception to 15 January 2023. A total of 624 studies [...]

by Zeki Kara  and Ahmet Beyatlı

Received: 03 June 2024;  Published: 27 September 2024;  doi: 10.21926/obm.genet.2403264

Continuous improvement of vine rootstocks and grape varieties is necessary for the sustainability of viticulture. In this context, grapevine breeding and especially the development of polyploid grapevine genotypes offer opportunities. This study investigated the effectiveness of sodium azide (SA, five dozes and two treatment duration) and ethyl methane sulfonate (EMS, four dozes and two treatment duration) in inducing polyploidy. In Ekşi Kara and Gök Üzüm grape cultivars and 41B and Fercal grapevine rootstocks, dif [...]

by Lucia Urbanová  , Silvia Farkasova  , Ivana Speváková  , Matúš Kyseľ  , Veronika Šimora  , Miroslava Kacaniova  and Jana Žiarovská

Received: 21 May 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403263

Medicinal plants have been a part of human life from a very early age. In the field of plant genetics, they are still widely investigated for their genomic variability. This study used two DNA marker techniques to obtain polymorphic profiles in selected species from Lamiaceae. Both are based on the variability of plant genes that code for allergens - BBAP (Bet v 1-Based Amplicon Polymorphism) and PBAP (Profilin-Based Amplicon Polymorphism). Variability of Bet v 1 homologues within individual genomes showed similari [...]

by Arianne Llamos-Paneque  , Isabel Echevarria-Frutos.  , Amaury León-Siosa  , Tanja Herrmann  and Thomas Liehr

Received: 08 July 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403262

To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he had a clinical and muscle biopsy diagnosis of muscular dystrophy, possibly type Becker. His physical examination showed severe weakness of the pelvic and shoulder girdle, with a waddling gait, grade II scoliosis associated with tall height, [...]

by Edoardo Masiello  , Sebastiano Caruso  , Salvatore Lavalle  , Roberta Foti  , Caterina Gagliano  , Ignazio La Mantia  , Salvatore Giuseppe Cocuzza  , Luigi La Via  , Federica Maria Parisi  , Christian Calvo-Henriquez  , Miguel Mayo-Yanez  , Jerome R. Lechien  , Claudia Di Napoli  and Antonino Maniaci

Received: 25 June 2024;  Published: 19 September 2024;  doi: 10.21926/obm.genet.2403261

Behçet's syndrome is a systemic inflammatory disorder of unknown origin, presenting with diverse symptoms such as recurrent oral and genital ulcers, skin lesions, and uveitis, and can impact multiple organ systems. Diagnosis relies primarily on clinical evaluation due to the lack of specific diagnostic tests. Management requires a multidisciplinary approach to control inflammation and alleviate symptoms, utilizing treatments like corticosteroids, immunosuppressive agents, and biological therapies. The higher preval [...]

by Ezgi Cabuk Sahin  , Yildiz Aydin  and Ahu Altinkut Uncuoglu

Received: 17 May 2024;  Published: 02 September 2024;  doi: 10.21926/obm.genet.2403260

Molecular markers play a crucial role in accelerating crop production for sustainable agriculture by identifying resistant traits and enhancing genetic diversity. In this review, we examine the impact of the molecular markers on advancing our understanding of stress tolerance mechanisms in plants, addressing the pressing imperative to bolster global food production to meet the escalating demands of the growing population. Additionally, the application of molecular markers to evaluate the genetic accuracy of plants [...]

by Lamiae Afif  , Zhour El Amrani  , Aziza Sbiti  , Ilham Ratbi  , Imane Cherkaoui Jaouad  , Youssef El Kadiri  , Thomas Liehr  , Abdelaziz Sefiani  and Abdelhafid Natiq

Received: 02 April 2024;  Published: 30 August 2024;  doi: 10.21926/obm.genet.2403259

6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one patient has yet been reported. A 10-year-old girl with de novo 6q22.31q27 duplication and Xq28 deletion was diagnosed by chromosomal microarray and confirmed by fluor [...]

by Donny Japly Pugesehan  , Vernando Yanry Lameky  and Agustinus Mathinus Luther Batlajery

Received: 12 June 2024;  Published: 21 August 2024;  doi: 10.21926/obm.genet.2403258

"Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of informed consent, and highlight a multidisciplinary approach involving law, bioethics, reproductive endocrinology, and reproductive biology. Using case studies, the findings address ethical challenges in ART practice, such as the transf [...]

by Nani Maharani  , Agustini Utari  , Nydia Rena Benita Sihombing  and Tri Indah Winarni

Received: 01 June 2024;  Published: 20 August 2024;  doi: 10.21926/obm.genet.2403257

Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft lip, congenital exotropia, laryngomalacia, atrial septal defect, and sensorineural hearing loss. 46, XX, del (10p→ter) was observed on the G-banded analysis. A chro [...]

by Nicole A. Bailey  and Laura Mackay

Received: 12 May 2024;  Published: 16 August 2024;  doi: 10.21926/obm.genet.2403256

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. PKU is caused by loss of function variants in the phenylalanine hydroxylase gene. This loss of function leads to the accumulation of an amino acid, phenylalanine (Phe), that can reach toxic levels in the blood. PKU is managed with a medical diet and sometimes with medication. If diagnosed early and with strict dietary control, neurocognitive deficits can be prevented. There is an important [...]