Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families
Abstract
2793 16394
Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Familiesby
Abstract
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 [...] 2793 16394 |
Phytoremediation: A Sustainable Approach to Combat Soil Salinityby
Abstract
Soil salinization is a significantconstraint affecting the productivity of agricultural land worldwide. This led to the abandoning of the production of farmcrops on colossalland. Soil salinity inversely affects seed germination and plant growth and influences the plant’s biological activities like photosynthesis, respiration, plant metabolism, enzymatic activities, hormone regulation, etc. Therefore, efforts are being made to bring the saline soil under cultivation by improving itthrough a proper drainage sys [...] 2111 16377 |
Tongue Acupuncture as an Alternative Method for Treating Rosacea–A Case ReportAbstract
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 [...] 2101 16352 |
Current Progress in Cancer Immunotherapies Using Small Molecules Targeting PD-L1 StabilityAbstract
PD-L1 is an immune checkpoint protein that is frequently overexpressed by the cells in the tumor microenvironment. PD-L1 binds to PD-1 present on the activated antitumor T-cells, which allows for tumor immune escape. The ability of the PD-1/PD-L1 axis to suppress antitumor immunity enables its application as a potential target for small-molecule-based immunotherapies. Targeting the PD-L1-mediated tumor immune evasion represents a promising approach for immune checkpoint blockade therapies. However, the existing mon [...] 2208 16341 |
Enhancement of Fischer-Tropsch Synthesis by Periodical Draining of the Wax-Filled Pores of a Cobalt Catalyst by HydrogenolysisAbstract
Fischer-Tropsch reactors operated in a steady state suffer from a low pore effectiveness factor and a high methane selectivity caused by internal mass transfer limitations due to the accumulation of long-chain hydrocarbons inside the catalyst pores. Therefore, an alternating process switching between Fischer-Tropsch synthesis (FTS) and drainage of the pores by hydrogenolysis is proposed. The periodical cracking of the accumulated waxes within the (partially) filled pores, realized by a switch from syngas (H2, CO) t [...] 2390 16330 |
Viral Infections in Allogeneic Hematopoietic Stem Cell Transplant Recipients: Literature ReviewAbstract
Hematopoietic stem cell transplant (HSCT) recipients are at an increased risk of bacterial, viral, fungal and parasitic infections. Past exposures to infections, the degree of immunosuppression, prolonged neutropenia and presence of graft versus host disease (GVHD) are some of the factors which make HSCT recipients more susceptible to infections. Viral infections have emerged as a major challenge causing high morbidity and mortality in stem cell transplant recipients. Myeloablative conditioning regimens and GVHD pr [...] 2330 16304 |
Agrobacterium-Mediated Genome Modification for Improvement of Oil Palm Planting Materialsby
Abstract
Oil palm is the most productive vegetable oil crop compared to other oil-bearing crops because it produces the highest oil yield per hectare. Palm oil is very versatile since it is used for producing food and beverages, personal care and cosmetics, cleaning products, biofuel, and bioenergy. To cater to the increasing demand in the global palm oil market, much research has been done to improve the oil's yield and modify its quality in addition to the oil palm height through breeding. Due to its long breeding cyc [...] 2135 16297 |
Case Reports of Patients Using Homeopathy in Which Complete Healing Was Observed: A Literature ReviewAbstract
To systematically review the literature for cases using homeopathy in which complete healing was observed. Scielo, Pubmed, CINAHL, and Embase databases were systematically screened for case reports and series of patients successfully cured by homeopathy between 1966 and August 2022. Language limitation was not used. Forty-nine articles, comprising 191 patients, were depicted. Most of them had dermatological conditions (12 papers, 71 patients), followed by infectious (7 papers, 31 patients), neuropsychiatric (10 pub [...] 1524 16282 |
A Review on the Application of the MPC Technology in Wind Power Control of Wind FarmsAbstract
Due to the uncertainty and volatility of wind speed, its natural output power also exhibits strong volatility. In order to avoid the negative effects of the excessive fluctuation of the output power of wind turbines in the wind farm and the power grid, it is very important to accurately predict and reasonably plan and control the output power of the wind farm. Model predictive control (MPC) is a type of advanced control method that can deal with a multi-input multi-output nonlinear system. Compared to the tradition [...] 2448 16270 |
Technological Resources for Early Intervention in Cases of Dyscalculia: A Deductive-Inductive CategorizationAbstract
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 [...] 2081 16267 |
From Light to Sound: Photoacoustic and Ultrasound Imaging in Fundamental Research of Alzheimer’s DiseaseAbstract
Alzheimer’s disease (AD) causes severe cognitive dysfunction and has long been studied for the underlining physiological and pathological mechanisms. Several biomedical imaging modalities have been applied, including MRI, PET, and high-resolution optical microscopy, for research purposes. However, there is still a strong need for imaging tools that can provide high spatiotemporal resolutions with relatively deep penetration to enhance our understanding of AD pathology and monitor treatment progress in fundamental r [...] 2682 16265 |
Tau-Targeted Immunotherapy for Alzheimer's Disease: Insight into Clinical TrialsAbstract
The use of immunotherapy as a therapeutic approach to Alzheimer's Disease (AD) is gaining rapid interest, with the primary goal of targeting abnormalities that impact neuronal viability through specific antibodies. Currently, clinical strategies focus intensively on targeting the two main pathologies associated with AD, beta-amyloid (Ab) and tau. This review examines ongoing research in the realm of tau immunotherapy, including clinical trials that demonstrate promising potential for halting AD progression. Several [...] 1420 16263 |
Zero-Emission Geothermal Power Generation: Experimental Study on Carbonate Mineralization through CO2-Andesitic Pyroclastic Rock Interaction at Oku-Aizu Geothermal PlantAbstract
In order to achieve advancement in zero-emission geothermal power generation for fixing the CO2 in the geothermal fluids to the carbonate minerals after binary power generation and reinjection of the fluid into the reservoir, batch-type experiments and geochemical simulations of CO2-andesitic pyroclastic rock interaction (tuff from Oku-Aizu geothermal area) were performed at 150 °C with and without CO2 gas for 15 days. Despite the low Ca content (0.9% wt.%) in the rock, the Ca2+ concentrations in the solutions [...] 4676 16252 |
Meditation as an Intervention for Health: A Framework for Understanding Meditation Researchby
Abstract
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 [...] 3024 16246 |
Construction & Demolition Waste and Circular Economy: The Case Study of a Brazilian CityAbstract
Construction and demolition waste (CDW) is a significant waste stream in Brazil. It represents 38.2% of the total CDW and MSW streams. The recycling of CDW in Brazil is estimated to be at least 7.2% by weight (collected CDW) or about 15% by volume (produced CDW). Therefore, only a tiny part of CDW is returned to construction activities. On the other hand, 48.9% of the total amount of the top fifty extracted minerals in the country is sand and gravel, which is used in the national construction industry. Considering [...] 2044 16212 |
Informatics and Artificial Intelligence Approaches that Promote Use of Integrative Health Therapies in Nursing Practice: A Scoping ReviewAbstract
Integrative health (IH) therapies are increasingly used to manage health conditions, but barriers hindering nurses from offering IH therapies persist. Informatics and artificial intelligence (AI) approaches have potential to promote nurses’ professional use of IH therapies. The purposes of this review are to (1) describe the state of the science of informatics and AI approaches promoting nurses’ use of IH therapies and (2) identify gaps in literature for future investigations. This systematic scoping review followe [...] 3307 16204 |
Vanadium: Biological, Environmental, and Engineering AspectsAbstract
Vanadium is an element that is widely distributed in Earth’s crust as well as in sea-water and ground-water reservoirs. Therefore, it exerts a great influence on the issues related to life and environment. Vanadium is utilized by several marine organisms. For example, there are vanadate-dependent haloperoxidases in algae and several bacteria, e.g., Azotobacter, use it for nitrogen fixation and bacterial reduction involves the conversion of vanadate to oxidovanadium (IV). The similarity between vanadate and phosphat [...] 1797 16195 |
Peripheral Nerve Dysfunction after Spinal Cord InjuryAbstract
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 [...] 2398 16177 |
The Effects of Aquatic Exercise on Cognitive Function: Systematic ReviewAbstract
The objective of this brief systematic review was to examine the effects of aquatic exercise on cognitive function. Studies were identified using electronic databases, including PubMed, PsychInfo, Sports Discus and Google Scholar. In total, 13 articles met the inclusionary criteria. Among the 13 studies, all 13 demonstrated beneficial cognitive effects from exercise. This included chronic aquatic exercise-induced improvements in global cognition, executive function, attention, learning and memory, cognitively-relat [...] 3473 16127 |
Epigenetic Regulation by Androgen Receptor in Prostate CancerAbstract
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 [...] 2161 16126 |
Assessment of AAR and Sulfate Attack on Wadi Gravel Concrete after 4 Years in ServiceAbstract
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 [...] 1761 16042 |
Neuronal Coherence Agent for Shared Intentionality: A Hypothesis of Neurobiological Processes Occurring during Social Interactionby
Abstract
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 [...] 1894 16039 |
Chair Fitness Program for Improved Strength and Physical Function for Older Adults: A Pilot Comparative Effectiveness Studyby
Abstract
Within the US, people are experiencing longer life expectancy, yet these extended lifespans have not necessarily translated into years living in good health. Musculoskeletal degenerative diseases are particularly prevalent amongst older adults. Research shows that regular resistance exercise carries preventive health benefits to combat these conditions. This study evaluated the impact of an innovative hand-held device (OYO) on the physical function of older adults compared to a traditional chair fitness program (CF [...] 1652 16036 |
Endemic Mycoses and Cryptococcus in Solid Organ Transplant RecipientsAbstract
The endemic mycoses are an important cause of morbidity and mortality in transplant recipients. These fungal infections are notable for their dimorphic life cycle, specific geographic distributions, and typical infection via environmental exposure. Their nonspecific presentation can make diagnosis challenging. Because of their geographic associations, assessment of both donor and recipient history is critical in making an accurate and timely diagnosis. Coccidioides spp. are endemic to the southwestern United S [...] 1909 16016 |
Diagnosis and Therapy of Atrial Fibrillation in Geriatric Patientsby
Abstract
Atrial fibrillation is very common in most old patients who need an adapted therapy due to their comorbidities. Before initiating an antiarrhythmic therapy, possible adverse effects, especially iatrogenic proarrhythmia, and extracardiac side-effects, must be considered. In geriatric patients with atrial fibrillation, heart rate control is the most frequent therapy. Oral anticoagulation plays a vital role in the therapy, but anticoagulation in old patients, who had a bleeding or stroke event, is challenging. Availab [...] 1757 15995 |
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