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Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I
No full textThe low-density lipoprotein receptor-related protein 5 gene (LRP5), which encodes a coreceptor within the canonical Wnt signaling pathway, plays a crucial role in bone mass regulation and has been associated with several bone disorders. Autosomal dominant osteopetrosis type I (ADO type I, OMIM 607634) is a rare disease caused by heterozygous, gain-of-function mutations in LRP5. Here we describe a 44-year-old female who presented with thickened calvarium, elevated bone density, torus palatinus, mandibular exostoses, enlarged mandible, and disabling headaches and bone pain. Exome sequencing revealed a previously reported heterozygous missense variant in the LRP5 gene (p.A242T). Post-diagnosis cranial vault volume measurement by computed tomography 3D reconstruction demonstrated decreasing intracranial volume over time. Off-label use of leuprolide acetate was associated with apparent stabilization of skull mineralization. This report documents a severe example of ADO type I and provides anecdotal evidence of the utility of therapy in need of formal evaluation
Meeting Abstracts of the first meeting of the American Society for Intercellular Communication 2021
No full textAdaptive multi-criteria group decision-making model based on consistency and consensus with intuitionistic reciprocal preference relations: a case study in energy storage technology selection
No full textAim: This study aims to present a multi-criteria group decision-making model with intuitionistic reciprocal preference relations that incorporates a new feedback mechanims adapting its operation to the decision-makers' consistency.Methods: A new adaptive feedback mechanism is developed within a multi-criteria group decision-making model. Assuming different kinds of decision-makers classified according to their consistency, this feedback mechanism customizes the recommendations given by adopting three strategies to identify the problematic assessments that the decision-makers should change if they want to collaborate to increase the consensus.Results: The performance of the proposed model is shown in a case study for the selection of an energy storage technology. It shows that the decision-makers providing assessments with low consistency must modify more assessments, allowing the most consistent decision-makers to be the leaders of the negotiation and persuade the others to adjust their assessments to improve the agreement achieved.Conclusion: In this study, a novel multi-criteria group decision-making model is developed. It includes an adaptive feedback mechanism adjusting the advice provided by considering the decision-makers' consistency. It allows that the assessments of the most consistent decision-makers never be strongly modified during the decision process
White paper: definitions of artificial intelligence and autonomous actions in clinical surgery
No full textThis white paper documents the consensus opinion of the expert members of the Editorial Board of Artificial Intelligence Surgery regarding the definitions of artificial intelligence and autonomy in regards to surgery and how the digital evolution of surgery is interrelated with the various forms of robotic-assisted surgery. It was derived from a series of video conference discussions, and the survey and results were subsequently revised and approved by all authors
Olfactory and gustatory dysfunctions in patients with COVID-19 in Wuhan, China
No full textThe coronavirus disease 2019 (COVID-19) is spreading all over the world. The main symptoms of COVID-19 include fever, cough, fatigue, and myalgia. However, there are few reports on olfactory and gustatory dysfunctions in patients with COVID-19. Our objective was to investigate the incidence of olfactory and gustatory dysfunctions in patients with COVID-19 infection in Wuhan, China. In this retrospective study, we collected 81 confirmed cases of COVID-19 from the Renmin Hospital of Wuhan University from February 2020 to March 2020, and analyzed the demographic characteristics, clinical manifestations (including olfactory and gustatory dysfunctions), laboratory findings, and comorbidities. In total, 81 confirmed COVID-19 patients were enrolled in this study (38 males and 43 females). The study showed that the most prevalent symptoms included cough, myalgia, and loss of appetite. On admission, 25 (30.9%) of all patients reported either olfactory dysfunction (OD) or gustatory dysfunction (GD), and 7 (8.6%) reported both OD and GD. Overall, 13.6% and 25.9% of all patients reported OD and GD, respectively. OD and GD were not associated with disease severity. Pearson correlation analysis identified some factors that are correlated with OD and GD, including headache or dizziness (r = 0.342, P = 0.002), dark urine (r = 0.256, P = 0.021), IgM titer (r = 0.305, P = 0.01), and diabetes (r = 0.275, P = 0.013). Multivariate adjusted logistic analysis showed that patients with headache or dizziness (OR = 7.382, 95%CI: 1.028-53.022) and diabetics (OR = 6.871, 95%CI: 1.096-43.086) were at higher risk of developing OD. In addition, patients with high IgM titers (OR = 1.006, 95%CI: 1.000-1.006) and diabetes (OR = 4.335, 95%CI: 1.098-17.287) were at high risk of developing GD. In 81.8% of the cases with OD and 28.6% of the cases with GD, the symptoms lasted for at least one month after discharge. In addition, 3.6% of inpatients without OD developed OD after discharge. These findings suggest that OD and GD are common in COVID-19. These symptoms appear early during the course of the disease and may last for one month. The incidence of OD and GD is related to neurological manifestations, diabetics, and IgM titers
Telemedicine for hypertension management: where we stand, where we are headed
No full textHypertension is the leading cause of cardiovascular disease worldwide. Telemedicine may support doctors and health care professionals to raise awareness, increase detection, and improve the management of hypertension, by enhancing the connection with their patients. Given the growing popularity of telemedicine, the objective of the present review paper is to present the typical applications of telemedicine in hypertension management and available recommendations for use and summarize the evidence of their clinical efficacy before and during COVID-19 and the future trends and perspectives. Blood pressure telemonitoring (BPT), which enables remote transmission of BP and additional information on a patient’s health status from different settings to a healthcare facility, is the most common application of telemedicine for hypertension management. BPT is an integral component of a complex and multifaceted intervention, which includes video consultation, education on lifestyle and risk factors, antihypertensive medication review and management, and multidisciplinary team care. Several randomized controlled studies documented larger BP reduction and enhanced BP control with telemedicine compared to usual care. Telemedicine also helps optimize antihypertensive medications, improve treatment adherence, reduce office visits and resort to laboratory tests, and improve quality of life. At the time of COVID-19, telemedicine has helped to maintain adequate BP control in hypertensive patients under home confinement. Consequently, telemedicine is generally recommended to ensure continuity of care for hypertensive patients with uncontrolled BP, older patients, those at high risk of developing cardiovascular diseases, those with multiple comorbidities, medically underserved people, or patients isolated due to pandemics or national emergencies. Telemedicine applications relying on smart wearables, cuffless BP monitors, multiparametric devices, ambient sensors, and tools integrated with machine learning algorithms are particularly promising for telemedicine’s future development and diffusion since they may provide continuous surveillance of patients and remarkable support decision tools for doctors
Audiological findings in an Indian child with Johanson-Blizzard syndrome: a case report
No full textJohanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder characterized by multi-system involvement and facial dysmorphic features. Sensorineural hearing loss is one of the most common manifestations of this pathology. Detailed audiological evaluation in confirmed cases of JBS is essential for the appropriate management of hearing loss. We present the audiological features of a six-year-old Indian girl with Johanson-Blizzard syndrome along with the less emphasized association of café-au-lait spots with JBS
An overview of aqueous zinc-ion batteries based on conversion-type cathodes
No full textThe scarcity of lithium resources and the unsafety of organic electrolytes limit the further application of lithium-ion batteries (LIBs) in electric vehicles and grid-scale energy storage. Aqueous zinc-ion batteries (AZIBs) are potential complements for LIBs for large-scale grid energy storage because of their abundant resources, environmental friendliness, intrinsic safety and low cost. However, current AZIBs are mainly based on intercalation-type cathodes and their energy densities are not competitive with LIBs. Fortunately, conversion-type cathodes, with higher specific capacity and lower price, endow AZIBs with excellent potential for practical applications. In this review, the mechanism of energy storage and the progress in developing AZIBs based on conversion-type cathodes are summarized. Perspectives on critical scientific issues and the potential developmental directions of AZIBs are also proposed
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