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 [...]

by Leila Naseri  , Mohsen Akbaribazm  and Mozafar Khazaei

Received: 06 February 2024;  Published: 04 July 2024;  doi: 10.21926/obm.genet.2403248

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy causing non-ovulation infertility in women. Women with PCOS have higher levels of luteinizing hormone (LH), testosterone, cholesterol and triglycerides but, in contrast, lower levels of follicular stimulating hormone (FSH) and sex hormone-binding globulin (SHBG) compared with healthy counterparts. Because of the limitations of human studies, animal models of PCOS have been developed to identify appropriate therapeutics and to explore their mechanism [...]

by Luis A. Méndez-Rosado  , Alicia Vaglio  , Roberto Lardoeyt-Ferrer  , Albertino Candimba-Sebastiao  , Judith Pupo-Balboa  , Ivan Y. Iourov  and Alejandro Esperon

Received: 19 March 2024;  Published: 24 June 2024;  doi: 10.21926/obm.genet.2402247

Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficul [...]