by Natalia V. Kovaleva  and Philip D. Cotter

Received: 02 May 2022;  Published: 05 September 2022;  doi: 10.21926/obm.genet.2203162

Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspec [...]

by Ken-ichi Takayama

Received: 26 May 2018;  Published: 02 November 2018;  doi: 10.21926/obm.genet.1804047

Prostate cancer is the most common cancer among men in the world. Androgen receptor (AR), acting as a nuclear receptor, facilitates ligand-dependent transcriptional activation in the nucleus. Androgen deprivation therapy (ADT) is used for the treatment of advanced prostate cancer because androgen and AR signaling drive prostate tumor growth and anti-apoptotic function. Resistance to ADT in most tumors develops quickly; thus, AR continues to be active in relapsed tumors called castration-resistant prostate cancer (C [...]

by Khaled Hassan  , Ian Sims  , Murray Reid  , Alex Smith  and Mohammed Al-Kuwari

Received: 18 April 2021;  Published: 26 September 2021;  doi: 10.21926/rpm.2103038

Wadi gravel is a local aggregate in Qatar that could contribute to enhanced sustainability by replacing expensive imported gabbro. The material needs to be processed before use to reduce sulfate content to acceptable levels. The paper presents the performance assessment of three full-scale buildings, variously made with 50% and 100% Wadi gravel and conventional gabbro concretes. Site monitoring up to four years in service demonstrated the strength development with age and resistance to the aggressive exposure condi [...]

by Michele Bisceglia  , Stefano Pizzolitto  , Tullio Parracino  , Giovanna De Maglio  , Elena Minenna  , Serena D’Agostini  and Carlos A. Galliani

Received: 07 October 2018;  Published: 14 November 2018;  doi: 10.21926/obm.neurobiol.1804016

Thyroid transcription factor 1 (TTF-1) is a nuclear polypeptide and a tissue-restricted member of the homeobox protein family that, when attached to DNA, plays a crucial role in regulating the expression of select genes during early embryonic development of the thyroid, lung, and brain. As often happens, the initial enthusiasm for the diagnostic value of TTF-1 as a selective immunohistochemical marker of lung and thyroid tumors began to dwindle, due to its detection in tumors arising from other organs. TTF-1-expres [...]

by Mary P Galea  , Natasha van Zyl  and Aurora Messina

Received: 02 October 2020;  Published: 29 December 2020;  doi: 10.21926/obm.neurobiol.2004075

Spinal cord injury (SCI) leads to an immediate loss of sensory and motor function below the level of injury mostly affecting people in the prime of life. In addition to the primary injury there is accumulating neurophysiological and histological evidence of dysfunction in the peripheral nerves, not related to direct damage from the primary injury, which exacerbates muscle wasting, and contributes to further functional loss and poor recovery. Among the potential contributing factors are systemic inflammation, and mo [...]

by Enrico Facco

Received: 04 February 2020;  Published: 08 July 2020;  doi: 10.21926/obm.icm.2003032

The topic of resilience is of paramount importance. Although the term resilience was coined in the fields of physics and engineering, its use has spread to the fields of social sciences, biology, psychology, and psychiatry, as well as to the industry. Moreover, the term is now endowed with a wide range of meanings. The topic of resilience plays a central role in all critical life events. It is of paramount importance in medicine as well as in psychology and psychotherapy, where it is involved in both psychiatric di [...]

by Maggie MacKinnon  , Maibritt Pedersen Zari  and Daniel K. Brown

Received: 13 August 2021;  Published: 09 November 2021;  doi: 10.21926/aeer.2104029

The practice of reconciliation ecology in urban environments relies heavily on urban green space as the primary source of vegetated habitat in cities. However, most cities lack the quantity, connectivity, and accessibility of green space needed to provide essential ecosystem services for the health, well-being, and resilience of human and non-human species. In reaction to urban densification and the increasing frequency and severity of climate change impacts, this study argues that architecture could strategically [...]

by Fabien Leurent

Received: 10 March 2022;  Published: 18 July 2022;  doi: 10.21926/jept.2203025

The carbon footprint of motorized transport modes per unit length traveled encompasses the unit share of the vehicle lifetime emissions, that of the transport infrastructure, and those of the motor energy, considered both from “well to tank” and from “tank to wheel”. In the active modes of transport, i.e., walking and cycling, the counterpart of motor energy is human energy, which is associated with two kinds of carbon flows: the carbon footprint of food intake, – which we call the Food to Body component – and the [...]

by Mitsuko Hirosawa  , Koji Hayakawa  , Kunio Shiota  and Satoshi Tanaka

Received: 05 July 2018;  Published: 17 September 2018;  doi: 10.21926/obm.genet.1803036

Histone modifications play an important role in the control of DNA-based processes by altering the structure and function of chromatin. O-linked N-acetylglucosamine (O-GlcNAc) modification is a form of post-translational modification of proteins that affects the serine (Ser)/threonine (Thr) residues. This process is controlled by a single pair of enzymes, i.e. O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA). Recent evidence indicates the existence of O-GlcNAc modification of histones, with 16 histone O-GlcNAc site [...]

by Igor Val Danilov  and Sandra Mihailova

Received: 02 October 2021;  Published: 29 December 2021;  doi: 10.21926/obm.neurobiol.2104113

The present interdisciplinary study discusses the physical foundations of the neurobiological processes occurring during social interaction. The review of the literature establishes the difference between Intentionality and Intention, thereby proposing the theoretical basis of Shared Intentionality in humans. According to the present study, Shared Intentionality in humans (Goal-directed coherence of biological systems), which is the ability among social organisms to instantly select just one stimulus for the entire [...]