by Renée J. Zwanenburg  , Trijnie Dijkhuizen  , Martijn J. de Groot  , Sheela Nampoothiri  , Marjolein H. Willemsen  , Eelco Dulfer  , Madhavan V. Thampi  , Nicole de Leeuw  and Conny M.A. van Ravenswaaij-Arts

Received: 13 July 2018;  Published: 21 November 2018;  doi: 10.21926/obm.genet.1804050

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 1 in 20,000 newborns. Although it usually occurs de novo with a low recurrence risk, an increased recurrence risk is observed in some families. In this paper, we provide an overview of the underlying causes of increased recurrence risk in families with PMS and present a workflow aimed at identifying an increased recurrence risk. Methods: First, we report clinical [...]

by Karine Sénécal  , Brigid Unim  and Bartha Maria Knoppers

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027

The benefits of neonatal screening programs are undeniable: children’s lives are saved, and disease burden and morbidity alleviated. Without a doubt, « classical » neonatal screening programs are in the best interests of newborns. Indeed, those screening programs are recognized among the ten most important public health achievements. However, newborn screening programs raise ethical, legal and social challenges. For example, which criteria should govern whether or not to include a disease in the list of screened co [...]

by Bo-Cai Gao  and Rong-Rong Li

Received: 26 April 2021;  Published: 05 July 2021;  doi: 10.21926/aeer.2103017

Passive high spatial resolution hyperspectral and multispectral imaging systems in the solar spectral region from aircraft and satellite platforms are being increasingly used for remote sensing of coastal waters and inland lakes. However, the remotely sensed data are often contaminated by the specular reflection of solar radiation at the air/water interface. Thus, the effects of sunglint need to be corrected. The purpose of sunglint correction is to remove the undesired specular reflected portion of radiance that d [...]

by Estefanía Espina  , José M. Marbán  and Ana I. Maroto

Received: 29 May 2023;  Published: 23 October 2023;  doi: 10.21926/obm.neurobiol.2304191

Dyscalculia is a math learning disability that significantly interferes with students' academic performance and math-related aspects of their daily lives. Early diagnosis and the design of intervention programs adapted to the needs of each case are essential. In this sense, multiple technological resources are created to address both issues. Still, it is difficult to identify which characteristics they share and which are more relevant regarding didactic suitability. Given this situation, this research proposes cat [...]

by Pierpaolo Di Cocco  , Alberto Fratti  , Kerim B. Kaylan  , Ivo G. Tzvetanov  and Enrico Benedetti

Received: 22 August 2020;  Published: 28 September 2020;  doi: 10.21926/obm.transplant.2003119

This article reviews the current treatment strategies of antibody-mediated rejection in kidney transplantation, which is increasingly recognized as the leading immunological cause of graft failure. The pathophysiologic complexity of this condition poses significant challenges for its treatment; however, progress toward advancing our understanding of its pathogenesis and diagnosis will allow for identification of new therapeutic targets. Emphasis is also given to prevention, which is mainly based on careful assessme [...]

by Paulo Henrique Fernandes de Oliveira  and Reginaldo de Carvalho Silva Filho

Received: 29 December 2019;  Published: 15 April 2020;  doi: 10.21926/obm.icm.2002021

Rosacea is a chronic inflammatory disease of the skin characterized by facial papules, pustules, erythema, and telangiectasia. Emotional factors such as stress and anxiety may induce and aggravate the symptoms of rosacea. It is hypothesized that tongue acupuncture, a technique that has been used successfully in the treatment of various neurological and psychiatric diseases, could be beneficial in relieving rosacea symptoms. This study evaluated the immediate effect of tongue acupuncture at specific anatomical point [...]

by Marcel Allbritton  and Carrie Heeter

Received: 30 July 2018;  Published: 09 October 2018;  doi: 10.21926/obm.icm.1804025

We propose a framework for understanding meditation that can support greater scientific rigor in reporting meditation research, and selecting meditation health interventions. There is no consistent and thorough framework for describing meditation research interventions. This impedes rigor of meditation research design and interpretation of findings. This also limits meaningful comparisons across research studies. The audience for this article includes researchers, meditation experts, healthcare professionals, and t [...]

by Alexander Peller  , Lara Suarez  , Ashleigh Trapuzzano  , Matt S. Stock  and Nicole Dawson

Received: 16 November 2021;  Published: 15 February 2022;  doi: 10.21926/obm.geriatr.2201188

Gait speed has been correlated to quality of life and has been called the sixth vital sign. The purpose of this study was to understand the factors that comprise fast and comfortable gait speed. 90 older adults provided demographic, cognitive, and functional performance data. Hierarchical linear regression models revealed predictors for comfortable gait speed to be lower-extremity strength ( B = 1.13, β = 0.233, P< .05), comorbid health ( B = −2.95, β = −0.22, P < 0.05), and gender( B = [...]

by Temitope Akinjogbin  , Jacob Parnell  and Maria C. Duggan

Received: 05 May 2020;  Published: 13 July 2020;  doi: 10.21926/obm.geriatr.2003128

Delirium is an acute change in mental status with key features of inattention and disorganized thinking. It is particularly common in older adults, with multiple and varied causes. Delirium increases the risk of morbidity, mortality, institutionalization, and healthcare costs; however, it is often missed because it is difficult to recognize without the use of a validated screening tool. The Age-Friendly Health Systems (AFHS) initiative highlights the need for implementation of a delirium monitoring program in hospi [...]

by Foad Haeri  , Deepak Tapriyal  , Christopher Matranga  , Dustin Crandall  and Angela Goodman

Received: 05 September 2021;  Published: 05 November 2021;  doi: 10.21926/jept.2104046

Contact angles were measured for CO2-brine interactions on 20 different rocks that represent the properties of various CO2 storage depositional environments to characterize the wettability during geologic carbon storage. Three different CO2 phases (gaseous, liquid, and supercritical) were considered to investigate the effect of pressure and temperature. Bubbles were studied in two groups of larger and smaller than 500 μm, the latter being more relevant to pore scale. Variation was observed among contact angle measu [...]