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 Maria Kontodiou  , Vassilis Paspaliaris  , Themistoklis Dagklis  , Elisavet Siomou  , Ahmed Hamid Al-Rikabi  , Kalliopi Tsita  , Theano Stavroulaki  , Andreas Pampanos  , Apostolos Zavlanos  , Georgios Papaioannou  , Ioannis Papoulidis  , Loretta Thomaidis  and Emmanouil Manolakos

Received: 30 May 2018;  Published: 16 September 2018;  doi: 10.21926/obm.genet.1803035

Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and time-consuming. Recently, the application of molecular karyotyping has resulted in improving the characterization of sSMC. Methods: Molecular karyotyping was used for the identification of a sSMC in this study. Results: In [...]

by Michelle Lynne LaBonte

Received: 29 July 2021;  Published: 29 September 2021;  doi: 10.21926/obm.genet.2103139

This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this public health approach also comes with challenges. For example, physicians began to document infants with indeterminate diagnoses - those with a positive screen who did not clearly fit into the cystic fibrosis or “normal” categorie [...]

by Robert Capizzi  and Heather Mary Kempton

Received: 15 September 2022;  Published: 06 November 2023;  doi: 10.21926/obm.icm.2304050

Relationships between nature connection, mindfulness and wellbeing have been observed through nature based therapeutic interventions, where mindfulness and nature appear to reciprocally influence each other in relation to wellbeing and is potentially consistent with attention restoration theory. However, previous studies have relied on examining nature based interventions rather than the role of nature connection in everyday lives. This investigation explored the relationship between nature connection, mindfulness, [...]

by Claire Thompson  , Daniela Calafiore  , Julijana Chochovski  , Steven Trawley  and Kathryn von Treuer

Received: 29 October 2018;  Published: 26 April 2019;  doi: 10.21926/obm.geriatr.1902050

Background: The increasing numbers and proportion of the ageing population make it essential to develop and evaluate programs to meet the needs of older adults to empower them to age actively, healthily and successfully. Consequently, positive ageing programs have been developed and the need to evaluate their outcomes is essential. This study used mixed methods to evaluate cognitive and behavioural changes and to monitor psychological health and active ageing in participants of a longstanding positive ageing psycho [...]

by Irina L. Puppo  , Ziravard N. Tonyan  , Alisa N. Panina  , Ksenia V. Shunkina  , Alsu F. Saifitdinova  , Yulia A. Loginova  , Anna A. Kinunen  , Julia R. Pastuhova  , Olga A. Leonteva  , Olga G. Chiryaeva  , Olga V. Malysheva  , Elena M. Fedorova  , Tatyana V. Vavilova  and Natalia K. Bichevaya

Received: 28 March 2022;  Published: 22 June 2022;  doi: 10.21926/obm.genet.2202157

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has been used for preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) in carriers of RTs. The data obtained by performing FISH for PGT-SR can be [...]

by Hideki Kanamaru  , Fumihiro Kawakita  , Reona Asada  and Hidenori Suzuki

Received: 07 May 2019;  Published: 29 July 2019;  doi: 10.21926/obm.neurobiol.1903035

Aneurysmal subarachnoid hemorrhage (aSAH) causes serious brain injury, and its mechanisms have not been completely unraveled so far. The causative factors for the brain injury initiated by an aneurysm rupture, which is referred to as the early brain injury (EBI), include elevated intracranial pressure, cerebral hypoperfusion, and blood contents that are directly exposed to the brain surface. At Day 4–14 post aSAH, delayed cerebral ischemia (DCI) often develops, which may worsen the neurological outcomes critically. [...]

by Soo Liang Ooi  and Sokcheon Pak

Received: 29 May 2019;  Published: 31 May 2019;  doi: 10.21926/obm.icm.1902033

The Landscape of Current Meditation Research: An Overview to the Special Issue on “Health Benefits of Meditation”

by Joep Geraedts

Received: 02 May 2020;  Published: 23 June 2020;  doi: 10.21926/obm.genet.2002111

This article reviews the genetic testing of infertility disorders. Genetic abnormalities can lead to disturbances of sexual development and hamper reproduction by influencing gamete production and maturation, fertilization, and embryonic development. Until now, the vast majority of detectable genetic abnormalities causing infertility were chromosomal abnormalities in both males and females. However, the number of monogenetic disorders, which play a role in disturbing fertility, such as single gene defects or comple [...]

by Ashwini M. Namasivayam-MacDonald  , Luis F. Riquelme  and Sonja M. Molfenter

Received: 02 June 2020;  Published: 29 July 2020;  doi: 10.21926/obm.geriatr.2003129

The Cobb angle is traditionally used for quantifying the degree of spinal curvature through evaluation of the full spinal cord. When conducting measurements on videofluoroscopy swallowing studies (VFSS), the Cobb angle can measure degree of cervical vertebrae curvature, which may have implications for swallowing. Given that this measure may have utility in dysphagia research, the reliability of this measure taken from C2-C4 and establishing the presence of changes with age were the focus of the current, proof-of-pr [...]