by Sydney Rudowski  , Cornelius F. Boerkoel  , Miao He  and Shibani Kanungo

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195

After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...]

by Andrew Williams  and Murray Thomson

Received: 25 September 2022;  Published: 13 December 2022;  doi: 10.21926/jept.2204041

This paper sets out a quantified scenario for the UK to reach net zero carbon emissions. Wind and solar are the main energy sources and their intermittency is accommodated through hydrogen electrolysis, biogas from anaerobic digesters, and their combination into biomethane. Hydrogen and biomethane stocks are tracked. A daily energy balance model is presented, using the most recent recorded weather data-2017 to 2021. Long periods of low wind in 2021 indicated the necessary energy storage capacities, which were adjus [...]

by Kara B. Dassel  , Eli Iacob  , Rebecca L. Utz  , Katherine P. Supiano  and Hollie Furhmann

Received: 01 September 2022;  Published: 06 January 2023;  doi: 10.21926/obm.icm.2301004

Due to the insidious progression of Alzheimer's disease and related dementias (ADRD), surrogate decision-makers typically make medical and long-term-care decisions for a care recipient, most often a family care partner. Unfortunately, many care recipient/care partner dyads have failed to engage in advance care planning or have lost the opportunity to do so due to the cognitive decline of the care recipient. To address this need, our team created a validated dementia-focused advance care planning tool known as t [...]

by Yuri Shavrukov

Received: 03 March 2020;  Published: 04 March 2020;  doi: 10.21926/obm.genet.2001104

by Steven D. Ross  , Sydney Rudowski  and Shibani Kanungo

Received: 10 April 2023;  Published: 14 June 2023;  doi: 10.21926/obm.genet.2302182

Spinal muscular atrophy, a leading cause of infant death, is a neurodegenerative disease classified categorically based on age of onset and achieved motor function. The standard method of diagnosis is through molecular genetic testing, ideally through the newborn screen to facilitate early diagnosis and treatment. There are 4 types of spinal muscular atrophy, each with varying degrees of symptoms based on the number of survival motor neurons. Current treatment options include gene therapy and supportive care. Futur [...]

by Gidon Eshel

Received: 03 August 2020;  Published: 25 December 2020;  doi: 10.21926/aeer.2004005

Environmentally motivated voluntary diet modifications are the focus of much research and public discourse. Yet the nuanced multi-faceted, multi-dimensional nature of agriculture-earth interactions, and limited public environmental knowledge likely combine to undermine the efficacy of environmentally motivated dietary shifts, squandering limited good will. To counter this, here I devise two related indices for crudely estimating importance of various environmental impacts of alternative dietary choices. Based on th [...]

by Unni Santhosh  and Jalees Ahmad

Received: 06 September 2023;  Published: 01 December 2023;  doi: 10.21926/rpm.2304035

The results of stress analysis of a ceramic matrix composite (CMC) vane using a physics-based model developed for two-dimensional woven CMCs are presented. The model considers the inherent defects and micromechanical damage in woven CMCs along with time-dependent deformation of the constituents. Predictions include damage state under general load conditions and the global deformation response of the vane. Strain-gage data from burst tests are compared to strain predictions obtained using the model. Results from tim [...]

by Masahiro Sato  , Yuki Kiyokawa  , Emi Inada  , Eri Akasaka  , Satoshi Watanabe  and Issei Saitoh

Received: 15 March 2021;  Published: 04 November 2021;  doi: 10.21926/obm.transplant.2104155

Although the aging process expands the adipose tissue habitation in mice and due to its close association with the female reproductive system, it can be easily exposed surgically under anesthesia when reproductive organs (including ovary, oviduct, and part of the uterus) are pulled and exposed onto the dorsal skin. This study aimed to consider the suitability of adipose tissue as a target for manipulation, particularly for the grafting of cells or small-sized tissue sections due to its ease of handling. Subsequentl [...]

by Jane Anastassopoulou  , Ioannis Mamarelis  and Theophile Theophanides

Received: 07 March 2021;  Published: 12 October 2021;  doi: 10.21926/obm.geriatr.2104180

In the present study, Fourier-transform infrared (FTIR) spectroscopy and Scanning Electron Microscopy (SEM) were used to investigate the formation and development of carotid artery atherosclerosis. The FTIR spectra showed that with the progression of atheromatic plaque formation, the collagen changed its native structure from ɑ-helix to random coil, amyloid, and cross-links. The infrared spectra and SEM analysis of carotid arteries showed that higher than 65% of the atheromatic plaque in patients with stenosis cons [...]

by Catarina F. Martins  , Jorge Soares  and Maria Paula Mota

Received: 20 March 2024;  Published: 01 August 2024;  doi: 10.21926/obm.neurobiol.2403235

Alzheimer's disease is a neurodegenerative condition that impacts an individual's physical, cognitive, and social well-being, ultimately resulting in a decline in independence and functionality. This case report explores how a program combining multimodal physical exercise and psychomotor rehabilitation can improve outcomes in interventions for Alzheimer's disease patients. This approach can enhance treatment effectiveness and provide researchers and practitioners with additional therapeutic options. The participan [...]