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 [...]

by Elena V. Kudryavtseva  , Sergey N. Fedenev  , Ilia V. Kanivets  , Anastasiya N. Troitskaya  and Vladislav V. Kovalev

Received: 30 April 2024;  Published: 05 August 2024;  doi: 10.21926/obm.genet.2403255

Assisted reproductive technologies (ART), including in vitro fertilization (IVF), are modern medical technologies widely used in developed countries. A frequent complication of pregnancy resulting from ART is miscarriage. The leading cause of miscarriage, both sporadic and recurrent, is chromosomal abnormalities (CA) of the embryo. To compare the frequency and structure of chromosomal abnormalities (CA) of the embryo during miscarriages after IVF and natural conception. Retrospective cohort comparative study. The s [...]

by Bolanle Adenike Akinsanola  , Matthew Iyobhebhe  , Tobiloba Christianah Maduakolam-Aniobi  , Tomilola Debby Olaolu  , Damilare Emmanuel Rotimi  and Oluwafemi Adeleke Ojo

Received: 17 February 2024;  Published: 30 July 2024;  doi: 10.21926/obm.genet.2403254

Diabetes Mellitus (DM) is a degenerative disease that modifies the body’s glucose metabolism. Although glucose is a vital energy source for body cells, individuals with diabetes can either not use insulin efficiently or do not create enough of this hormone, which controls blood sugar. This review aimed to explore the multi-target treatment for diabetes. This study investigates explicitly recent reports published in peer-reviewed journals indexed in various databases, including Web of Science, Scopus, PubMed, Google [...]

by Arbnora Batalli-Kepuska  , Lidvana Spahiu  , Emir Behluli  and Gazmend Temaj

Received: 08 February 2024;  Published: 19 July 2024;  doi: 10.21926/obm.genet.2403253

Several therapeutic methods are used to cure acute lymphoblastic leukemia (ALL). Relapsed/refractory B-cell ALL (R/R B-ALL) remains the primary cause of death worldwide due to the limitation of cure. Blinatumomab is a bispecific T-cell engaging antibody used to treat R/R B-ALL. The use of blinatumomab for treating R/R B-ALL has shown to be very efficient, especially as a bridge tool to hematopoietic stem cell transplantation (HSCT). The response to blinatumomab treatment ranged from 69% after two cycles in phase II [...]

by Havva Özgen Eyüpoğlu  , Erol Eyüpoğlu  and Nedime Serakinci

Received: 13 March 2024;  Published: 17 July 2024;  doi: 10.21926/obm.genet.2403252

Pancreatic damage and pancreatic cancer pose significant challenges due to their complex pathogenesis, limited treatment options, and poor prognosis. In recent years, the potential use of human Mesenchymal Stem Cells (hMSCs) has been explored to address these complex pancreatic conditions and develop novel therapeutics. hMSCs, known for their regenerative and immunomodulatory properties, offer a novel therapeutic avenue for repairing damaged tissues and possibly inhibiting cancer progression. This communication dis [...]

by Giuseppe Merra

Received: 03 July 2024;  Published: 10 July 2024;  doi: 10.21926/obm.genet.2403251

by Anna Passaro  , Antonio Zullo  , Mariacarla Di Gioia  , Enza Curcio  and Fabrizio Stasolla

Received: 27 January 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403250

Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily affecting females, characterized by a spectrum of debilitating symptoms that impact neurological, cognitive, and motor functions. Eye-tracking technology (ETT) has emerged as a prominent tool in Augmentative and Alternative Communication (AAC) systems, particularly for neurological patients with motor and verbal impairments. This narrative review aimed to evaluate studies conducted on the use of ETT to improve cognitive abilities in girls with RTT [...]

by Oyovwi Mega Obukohwo  , Peggy Ejiro Ohwin  , Rotu Arientare Rume  , Olowe Gideon Temitope  , Oyelere Abosede Oreoluwa  and Adelowo Joy Motunrayo

Received: 19 February 2024;  Published: 05 July 2024;  doi: 10.21926/obm.genet.2403249

Chromosome abnormalities are a leading cause of pregnancy loss, developmental delays, and birth defects. These abnormalities arise from errors in chromosome structure (breakage) or number (missegregation) during cell division. Understanding the causes of these errors is crucial for developing effective preventive strategies to improve reproductive health. This paper aims to review the known causes of chromosome breakage and mis-segregation, emphasizing their impact on pregnancy and newborn health. It further explor [...]