by Shibani Kanungo  , Samantha A. Vergano  , Thomas Clark  , Rami Madani  , Melissa Schott  , Kira Couch  , Rubie Villela  and Natalie White

Received: 07 September 2023;  Published: 12 January 2024;  doi: 10.21926/obm.genet.2401210

Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the space of newborn screening (NBS) in the United States. Families continue to advocate for the addition of KD to the Recommended Uniform Screening Panel (RUSP) after being declined for the second time in February 2023. Even with significant progress in KD screening tests, uncertainty about the phenotypic presentations, and effectiveness of hematopoietic stem cell transplant (HSCT) seems to have impeded the addition of this conditi [...]

by Aleeha Muzaffar  , Usman Arif  , Faheem Akram  , Fatima Batool  , Sameera Hassan  and Bushra Rashid

Received: 29 August 2022;  Published: 09 November 2022;  doi: 10.21926/obm.genet.2204171

Climate change poses a substantial threat to global crop yield. Moreover, crop production is likely to reduce in the near future because of increasing average temperatures, widespread extreme climate events, and the loss of agricultural land. Abiotic stresses are the major factors limiting the growth and development of various crops worldwide. They cause the buildup of reactive oxygen species (ROS), which leads to cellular damage in a variety of subcellular compartments in plants. The metabolic rate of ROS is criti [...]

by Steven Hespeler  and Donovan Fuqua

Received: 31 July 2020;  Published: 12 January 2021;  doi: 10.21926/jept.2101003

This investigation presents a data-driven Long-short Term Memory battery model for predicting State of Charge for lithium-ion batteries LiFePO4 for next-generation vehicle operations. Our modified algorithm builds and updates a model using multivariate inputs that include physical properties, voltage, current, and ambient temperature during operations. The primary research goal is to improve prediction performance on future values from multiple training examples using an online learning scheme. Initial results demo [...]

by Carly M. Darden  , Srividya Vasu  , Kenjiro Kumano  , Bashoo Naziruddin  and Michael C. Lawrence

Received: 21 November 2018;  Published: 29 January 2019;  doi: 10.21926/obm.transplant.1901043

Islet transplantation is a minimally invasive cell based replacement therapy to prevent or reverse diabetes or hypoglycemia through natural hormonal responses to regulate blood glucose. However, extending the islet graft functional lifespan remains a challenge that prevents long-term success and widespread use of the procedure. Islets are subject to stress and damage and undergo immunological assault during transplantation procedures. Current treatments to prevent immune reactivity toward the graft come with toxic [...]

by Nuria Arias-Ramos  , Jesús Pacheco-Torres  and Pilar López-Larrubia

Received: 11 November 2018;  Published: 30 January 2019;  doi: 10.21926/obm.neurobiol.1901020

Background: Despite important advances in multimodal therapeutic options, glioblastoma (GBM), the most frequent and aggressive form of all astrocytomas, remains with a median overall survival period of 15 months. A direct correlation between GBM hypoxia and higher aggressiveness, poor prognosis and greater resistance to different treatments has been established. However, because of intratumoral and interindividual heterogeneity, it has not been possible to assess accurately the hypoxia degree from physiopathologica [...]

by Raúl E. Cian  , Antonela G. Garzón  , Micaela Albarracín  and Silvina R. Drago

Received: 14 April 2023;  Published: 19 September 2023;  doi: 10.21926/rpn.2303018

This work aimed to evaluate the chemical composition, bioactive compounds (phenolics and γ-aminobutyric acid, GABA), and antioxidant properties of different barley varieties (Overture, Charles, Sinfonía, Montoya, and Andreia) and their malts to weigh up them as potential ingredients for producing new bio-functional foods. For this, five barleys and five malts obtained from them were studied. Regarding chemical composition, total starch was the main component (≈62%) of barleys followed by total di [...]

by Christine Demanche  , Jacques Guillot  and Magali Chabé

Received: 22 February 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902078

Pneumocystis spp. are a group of fungi that are known for causing opportunistic infections in immunocompromised individuals. It was only at the end of the 20th century that the scientific community challenged the notion of a unique species in the genus Pneumocystis (i.e., Pneumocystis carinii) that drastically changed the understanding of the natural history of pneumocystosis. It is now accepted that the Pneumocystis genus comprises a group of heterogenous fungi having multiple stenoxenic biological entities. These [...]

by Xi Chen  and Jianhua Xuan

Received: 19 October 2019;  Published: 07 April 2020;  doi: 10.21926/obm.genet.2002107

The analysis of gene networks and signalling pathways plays a key role in understanding gene functions, i.e., their effects on the development of a particular disease. Yet, for many heterogeneous diseases, the number of known disease-associated genes is limited. Identifying disease-associated genes is still an open challenge. To understand the functions of genes associated with a disease, we develop a Metropolis-Hastings sampling based SIGnificant NETwork (MSIGNET) identification approach. MSIGNET integrates diseas [...]

by Hamid Ullah  , Sara Iqbal  , Blanca Lizaola Mayo  and Elizabeth Carey

Received: 31 March 2021;  Published: 20 July 2021;  doi: 10.21926/obm.transplant.2103149

Liver transplantation (LT) has grown monumentally in the last 40 years. Sarcopenia has emerged as an independent factor associated with increased mortality in patients with end stage liver disease. In this review we aim to shed light upon recent developments in assessment, clinical implications, management of sarcopenia in patients requiring a liver transplant. We also bring attention to the impact of COVID-19 pandemic on sarcopenia which ranges from the disease pathology to the unprecedented preventive measures ta [...]

by Maathar Al Qasimi  , Dhafer Manna Al Zulayqa  and Mostafa Seifan

Received: 29 July 2020;  Published: 23 October 2020;  doi: 10.21926/rpm.2004022

Additive manufacturing is a recent revolution in the construction field since cementitious materials became printable. This extrusion technique has enabled the construction of very complex geometry with a reduction in costs, time and labour interventions. This study aims to evaluate the possibility of reinforcing 3D printable cementitious composites with the use of nano and micro materials, particularly nano silica, micro silica and microfibrillated cellulose (MFC) which are known for their ability to enhance the f [...]