Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Review
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Abstract
Unique Female Patient with de novo 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature Reviewby
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract 6q22.31q27 duplication and Xq28 deletion lead to two specific different rare chromosomal disorders. Partial trisomy 6q22.31q27 is a recognizable syndrome with a distinctive phenotype, and the most common finding in girls with Xqter deletions has been premature ovarian failure (POF) and secondary amenorrhea. To our knowledge, neither abnormality in one [...] |
Current and Future Applications of Machine Perfusion and Other Dynamic Preservation Strategies in Liver TransplantationAbstract Machine perfusion (MP) techniques, which simulate physiological conditions to allow for the assessment and preservation of organ viability, are currently applied in various solid organ transplantation fields. Owing to the growing demand for liver transplants and the scarcity of available donor livers, MP offers a practical solution for recovering high [...] |
Nanomedicine: Pioneering a New Frontier in Neuro-OphthalmologyAbstract Nanotechnology is one of the most promising fields of study, and it represents a pioneering leap in science and technology by the precise control over materials at the atomic and molecular level. This transformation affects numerous aspects of modern human life, including medicine, healthcare, electronics, computing, and energy storage. Nanotechnolog [...] |
The Origin of Social Skills: Manipulating Shared Intentionality in Bioengineering Systems for Empathy Trainingby
![]() ![]() Abstract This pilot study (N = 28) aims to develop universal computer-aided empathy training. The experiment tests a research design of manipulating behavior in subjects toward non-affective cues in a bioengineering system. The study implements the Mother-Fetus Neurocognitive Model to involve subjects in subliminal cognitive collaboration with confederates, [...] |
Exploring Older Adults' Perceptions of Stair Hazards and an m-health Fall Prevention App: A Focus Group StudyAbstract Older adults are disproportionately susceptible to hospitalizations and fatalities due to stair-related falls. While many intrinsic risk factors, such as mobility and vision, may increase the likelihood of falls on stairs, features of the stairs that increase the risk of falls are understudied. This study aimed to capture older adults’ perspectives [...] |
Grid-Connected Photovoltaic System for Generating Energy to Dairy Farm ActivitiesAbstract Minas Gerais is the leading milk-producing state in Brazil, and many dairy activities are supplied with electricity by the cable aerial network of the electrical energy state company. Given that the Brazilian energy matrix relies primarily on hydroelectric power, studies on the potential of other renewable energy sources in the context of dairy farms [...] |
Obtaining of WC–Co- and WC–TiC–Co-Based Ultradispersive Alloys Modified with B4C–TiB2 QuasieuteticAbstract Tungsten carbide WC-based materials characterized by high hardness and wear resistance have long been widely used in manufacturing cutting and mining tools. They are alloyed or modified with different ceramic phases to improve operational characteristics further. There are obtained the hard tungsten carbide–cobalt WC–Co and tungsten carbide–titani [...] |
The Potential of Chickpea (Cicer arietinum L.) for Anti-Osteoporotic Agent in Post-Menopausal Women: A Systematic Review of In Vivo StudyAbstract 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 [...] |
The Impact of Intergenerational Support on the Elderly’s Life Satisfaction in China: A Comparison of Males and Females1Abstract This paper examines whether different types of intergenerational support have different effects on life satisfaction among the elderly, and whether a gender difference exists in the effect of intergenerational support on the elderly’s life satisfaction. Data from the China Longitudinal Aging Social Survey (CLASS) were used for this study. The stud [...] |
Advanced Catalysis for Green Fuel Production from Biomass and WastesAbstract EditorialAdvanced Catalysis for Green Fuel Production from Biomass and WastesLucília S. Ribeiro 1, 2, ** Correspondence: Lucília S. Ribeiro; E-Mail: lucilia@fe.up.ptSpecial Issue: Advanced Catalysis for Green Fuel Production from Biomass and WastesCatalysis Research2024, volume 4, issue 3doi:10.21926/cr.2403012Received: August 19, 2024Accepted: [...] |
Influence of Thermal Environment Conditions on Mechanical Properties of MEX Printed 17-4 PH Stainless Steelby
![]() ![]() Abstract This study investigates the influence of thermal environmental conditions during printing and their effects on the mechanical properties of material extrusion (MEX) 3D-printed 17-4 PH stainless steel. Various ambient temperatures and cooling behaviors were used during the printing process of the tensile specimens. Following DIN EN ISO 50125 and DIN [...] |
Developing an Independent International Research Team: Research Ensemble for Advancement in Cross-Cultural Healthcare (REACH)by
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() Abstract This short report presents an international research group, Research Ensemble for Advancement in Cross-cultural Healthcare (REACH). REACH is an independent research group, and no one is paid to do research for REACH. All members participate because they are intrinsically motivated to pursue cross-cultural healthcare. REACH consists of 28 healthcare [...] |
Case Studies in the Ethics of Assisted Reproduction, by Louise P. King & Isabelle C. Band, Switzerland: Springer Cham, 152 Pages, Ebook, 978-3-031-41215-8Abstract "Case Studies in the Ethics of Assisted Reproduction" explores the moral and ethical implications of assisted reproductive technologies (ART), such as in vitro fertilization (IVF), surrogacy, and genetic screening. These findings outline ethical dilemmas, including the importance of informed consent, and highlight a multidisciplinary approach involving [...] |
Keeping Your Head: Remembering to Think in Mindfulness Practiceby
![]() Abstract It is an axiomatic in secular mindfulness that to become present is to direct attention away from thinking to physical sensation. While this can be a useful strategy to manage depressive rumination, as an automatic default position, it risks demonising our fundamental human capacity to purposefully think about the causes of suffering and how to reduce [...] |
A Child Carrying a Large Deletion in the 10p.15.3-p12.31 RegionAbstract Partial deletion of 10p is a rare disorder. Common features of this disorder include intellectual disability, developmental delay, dysmorphic features, hypoparathyroidism, deafness, and renal anomalies, but the phenotypes can vary between patients. We report an infant girl presented with global developmental delay, distinctive facial features with cleft [...] |
Enhancing Students’ Brain Development through Technology Use and Digital CharacteristicsAbstract In the present era of digitalization, technology plays a prominent role in relaxation and brain development (BD), specifically for university students. The present study explores the impact of technology use and digital characteristics (DC) in developing students' BD. We applied the quantitative methods; the study collected 328 samples from Egypt's [...] |
Recognizing the Role of ChatGPT in Decision-Making and Recognition of Mental Health Disorders among EntrepreneursAbstract Nowadays, mental health disorders have become a significant concern for everyone. There are diverse reasons emanating from the workplace, business, and everyday environment. Therefore, there is a current need to use technology to detect and review their symptoms and causes. Accordingly, in this study, the researcher attempted to recognize ChatGPT [...] |
Phenylketonuria—Past, Present, and Future Directionsby
![]() ![]() Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism with an incidence that varies throughout the world. PKU is caused by loss of function variants in the phenylalanine hydroxylase gene. This loss of function leads to the accumulation of an amino acid, phenylalanine (Phe), that can reach toxic levels in the blood. PKU is managed [...] |
Diet and Prevention of Cardiovascular DiseaseAbstract Promoting a healthy diet is an effective strategy for preventing cardiovascular disease (CVD). The characteristics of a healthy diet are known. However, an unhealthy diet has become a significant contributor to the global burden of diseases, mainly due to its effect on CVD, diabetes, and cancer. A healthy diet is not accessible and affordable to most [...] |
Using Technologies to Promote Adaptive Responding and Reduce Challenging Behaviors in Children with Autism Spectrum Disorder: A Selective Reviewby
![]() ![]() ![]() ![]() ![]() ![]() Abstract The management and treatment of challenging behaviors in children diagnosed with Autism Spectrum Disorder (ASD) is a priority for caregivers, educators, and healthcare professionals. This selective review examined how different technologies were used to help manage challenging behaviors in children with autism, describing each technology's strengths [...] |
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Guest Editor: Luciano Ombres
Deadline: July 15, 2020 (Open)
Guest Editor: Ali Abdul-Aziz
Deadline: September 15, 2020 (Open)
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