by Sarah Long  , Roanna Lobo  , Peter O'Leary  and Jan E. Dickinson

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’ [...]

by Antonella Ciaramella

Received: 01 January 2020;  Published: 17 March 2020;  doi: 10.21926/obm.icm.2001014

Over the last 30 years, several neuroimaging and neurophysiological experiments have lent support to the neuropsychology of consciousness, and several definitions have followed to describe it. The phenomenological perspective of consciousness facilitates the description of the individual’s awareness experience of internal states (e.g., perception, sensations, emotion, volition, or memories), thus helping us to better understand the relationship between the brain and mind. Although significant research has been aime [...]

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 Sri Desfita  , Denai Wahyuni  , Yusmarini Yusmarini  , Usman Pato  and Grazyna Budryn

Received: 09 April 2024;  Published: 23 August 2024;  doi: 10.21926/rpn.2403012

This systematic review aimed to analyze the in vivo study of the anti-osteoporotic activity of chickpeas. A comprehensive search for English language papers published between January 2013 and December 2023 using the keywords chickpea or Cicer arietinum, anti-osteoporotic activity or anti-osteoporotic effect, chickpeas and anti-osteoporotic activity, Cicer arietinum and antiosteoporotic activity and their synonyms yielded 3566 results from PubMed, ScienceDirect, SpringerLink and Google Scholar. Articles were screene [...]

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 C. Shah Kabir

Received: 28 March 2023;  Published: 12 June 2023;  doi: 10.21926/jept.2302019

Investigations on two-phase gas/liquid flow in pipes have been under study for nearly six decades. These studies have significantly assisted in managing fluid flow in the wellbore and surface networks, leading to the separation of phases and transmission of oil and gas into the market. This study summarizes some of the main lessons learned in flow through wellbores. Besides understanding some of the fundamental principles, we focused on the practical items of interest: Conventional production scenarios for oil and [...]

by Plamen Mihaylov  , Burcin Ekser  , Daiki Soma  , Andrew Lutz  , Jonathan Fridell  and Chandrashekhar A. Kubal

Received: 04 January 2021;  Published: 11 March 2021;  doi: 10.21926/obm.transplant.2101138

One of the most feared complications in liver transplantation is hepatic arterial thrombosis (HAT). The incidence of HAT in liver transplantation varies from 1.2% and 8%. One of the risk factors for this complication is anatomical complexity of hepatic arterial system. The focus of this short communication is to show our approach in dealing with aberrant left hepatic artery in settings of liver transplantation. This is a single center experience. Between January 2016 and June 2019, we procured and transplanted 357 [...]

by Maxwell Blazon  , Brianna LaCarubba  , Alexandra Bunda  , Natalie Czepiel  , Shayna Mallat  , Laura Londrigan  and Arturo Andrade

Received: 13 September 2020;  Published: 12 January 2021;  doi: 10.21926/obm.neurobiol.2101083

N-type (Cav2.2) calcium channels are key for action potential-evoked transmitter release in the peripheral and central nervous system. Previous studies have highlighted the functional relevance of N-type calcium channels at both the peripheral and central level. In the periphery, N-type calcium channels regulate nociceptive and sympathetic responses. At the central level, N-type calcium channels have been linked to aggression, hyperlocomotion, and anxiety. Among the areas of the brain that are involved in anxiety a [...]

by Max F. Platzer  and Nesrin Sarigul-Klijn

Received: 28 January 2020;  Published: 29 April 2020;  doi: 10.21926/jept.2002005

The current status of a project is described which aims to demonstrate the technical and economic feasibility of converting the vast wind energy available over the globe’s oceans and lakes into storable energy. To this end, autonomous high-performance sailing ships are equipped with hydrokinetic turbines whose output is stored either in electric batteries or is fed into electrolysers to produce hydrogen which then is compressed and stored in tanks. In the present paper, the previous analytical studies which showed [...]

by Ji-Jie Pang  and Samuel M. Wu

Received: 24 November 2020;  Published: 21 May 2021;  doi: 10.21926/obm.neurobiol.2102098

We studied how GC death in glaucoma related to the intraocular pressure (IOP), eyeball volume (VS) and elasticity (volumetric KS and tensile ES), and eyeball volume-pressure relation. Glaucomatous GC loss was studied in DBA/2J (D2) mice with wild-type mice as controls. GCs were retrogradely identified and observed with a confocal microscope. The elasticity calculation was also done on published data from patients treated by a gas bubble injection in the vitreous cavity. The GC population in D2 mice (1.5- to 14-mont [...]