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Background Familial exudative vitreoretinopathy (FEVR), a group of rare inherited retinal vascular disorders, is the major cause of vision loss in juveniles. At present, the diagnosis of FEVR remains difficult due to its clinical and genetic heterogeneities. Aims To identify the causative genetic variants in two unrelated FEVR-affected families one Indian family and one Chinese Han family. Materials and Methods Five affected patients from two families were recruited for this study. Whole-exome sequencing was applied to the probands, and Sanger sequencing was performed for validation. Stringent whole-exome sequence data analyses were performed to evaluate all of the identified pathogenic variants. Results Two novel variants in the TSPAN12 gene, were identified a missense variant c.437 T > G (p.Leu146Arg); and a nonsense variant c.477 C > A (p.Cys159*). Both variants cosegregated with the disease in the investigated FEVR-affected families. Additionally, both variants inactivated the ability of TSPAN12 protein to enhance Norrin/β-catenin signaling. TBOPP Conclusion This study expands the mutational spectrum of TSPAN12 for FEVR.Obesity is defined as excess adipose mass that causes serious health problems. Phenethyl isothiocyanate (PEITC) is a major and relatively nontoxic compound of the isothiocyanates. Although many studies have demonstrated that PEITC is a potent substance with physiological activities, such as anticancer activity, the precise mechanism for the effects of PEITC on inflammation and lipid metabolism in adipose tissue is not clear. Our study aimed to clarify the effects of PEITC supplements on the adipose tissue in obesity induced with a high-fat/cholesterol diet, and the underlying mechanisms. We induced obesity by feeding the mice with high fat with 1% cholesterol diet (HFCD) for 13 weeks. Mice were divided into five groups normal diet (CON), HFCD, HFCD with 3 mg/(kg·d) gallic acid (HFCD+G), and HFCD with 30 and 75 mg/(kg·d) PEITC (HFCD+P30 and HFCD+P75, respectively). Using western blotting and quantitative polymerase chain reaction (qPCR) analysis of the adipose tissue, we determined the expression of lipid metabolism-related genes and inflammation-related genes. In the HFCD, the expression level of nuclear factor-κB (NF-κB), lectin-like oxidized low-density lipoprotein receptor 1 (LOX-1), and cyclooxygenase-2 (COX-2), was higher compared with that in the CON. Moreover, in the HFCD, the expression of p-mechanical targets of the rapamycin (mTOR) was increased, whereas that of p-AMP-activated protein kinase (AMPK) was decreased compared with that in the CON. Nevertheless, these decreased expression levels of p-AMPK and increased levels of LOX-1, p-mTOR, peroxisome proliferator-activated receptor gamma (PPARγ), NF-κB, and COX-2, were alleviated by PEITC supplementation. Therefore, we suggest that PEITC might be a potential preventive agent for ameliorating obesity-induced inflammation and adipogenesis by modulating the mTOR/AMPK/PPARγ pathway.Recombinant adenoviruses have broad applications for gene delivery and expression. Furthermore, the adenovirus packaging system facilitates the expression of RNA-guided CRISPR/Cas9 nuclease complexes. In this study, we developed a novel system, named AdBlue, for the construction of recombinant adenoviruses using an enzymatic assembly strategy. This system could significantly reduce the time and labor required to generate adenoviral vectors. When applied to CRISPR/Cas9 design, it simplifies the preparation of recombinant adenoviruses carrying nuclease complexes and can induce high levels of site-specific mutagenesis. Our system has outstanding advantages for adenovirus preparation and could be a useful molecular engineering tool for gene delivery and editing.Ten keys for successful esthetic-zone single immediate implants encapsulate in an evidence-based manner the treatment planning and replacement of single hopeless teeth in the maxillary anterior sextant. These include two treatment-planning, five surgical, and three prosthetic keys, which, collectively, aim to minimize soft- and hard-tissue complications for an optimal esthetic implant restoration. The Straightforward, Advanced, and Complex (SAC) classification is designed to aid clinicians in the treatment planning of dental implant cases. As per this classification, cases are stratified by the degree of surgical and restorative risk and complexity for both the surgical and prosthetic phases of treatment. A technique-sensitive and skill-demanding task, the replacement of multiple adjacent teeth in the esthetic zone poses significant challenges for clinicians and is considered a complex SAC procedure surgically and restoratively. This article presents a case report on the replacement of multiple adjacent teeth in the esthetic zone, demonstrating the use of 10 key principles to achieve an optimal esthetic outcome.On March 15, 2020, routine dental care in New York State paused due to the COVID-19 pandemic. The pause lasted 10 weeks in part to preserve critical supplies of personal protective equipment (PPE). This interruption of access to dental care led to an overall deterioration of oral health, an increase in prescribing and use of antibiotics and analgesic medications, especially opiates, and a rise in visits to hospital emergency centers. New York University's College of Dentistry, an academic ambulatory dental center, normally sees over 1,000 patient visits per day. Most visits are patients who require urgent care or are in the process of treatment to restore debilitating oral health problems. NYU Dentistry responded to the State pause by creating a nascent teledentistry service that began operations on March 17, 2020.The SARS-CoV-2 pandemic created societal upheaval well beyond what anyone, but the oldest of Americans, has seen in their lifetime. As the pandemic begins to subside, it is leaving behind a legacy of permanently changed practices, including enhanced environmental controls in clinical settings, reconsideration of modes of personal protective equipment outsourcing, changes and/or reinterpretation of dental practice acts, and entirely new approaches to testing and vaccine design, among many others. This article focuses on one change that the authors hope will prevail greater trust in the dental profession as a valuable public resource during healthcare crises. The article cites the initial low perception of dentistry as an important component of a health surge response by public health authorities, then describes how a group of eight institutions came together to form the "Testing for Tomorrow Collaborative" to help each other and the dental profession identify modes of testing and practice conduct that make dentistry safer to practice. The importance of the public's trust in the profession is underscored, and pathways to improving that trust are proffered.As COVID-19, which is caused by the coronavirus SARS-CoV-2, initially spread worldwide, limited information was available about the nature and modes of transmission of the virus. Scientific guidance on how to prevent transmission and the infectivity of SARS-CoV-2, particularly in dental settings, was lacking. Consequently, the dental community became highly anxious about the possible risk of transmission in dental settings. Because of the uncertainties regarding safety measures needed to practice safely, clinical operations at many dental schools were reduced to emergency services only. Some clinics reopened for expanded services later in the spring or summer of 2020 after COVID-19 safety protocols were adopted. This article reviews the evidence that was used to develop COVID-19 safety protocols at two dental schools University of California San Francisco and Temple University. The policies were aimed at ensuring safety for all dental personnel and patients receiving dental care at the schools. At these two academic dental institutions there have been no reports of SARS-CoV-2 transmission due to exposure while dental care was being provided or received. This is a testament to the COVID-19 safety protocols put in place for the provision of dental care with minimized risk of SARS-CoV-2 infection.In March 2020, the World Health Organization declared COVID-19 as the first coronavirus-initiated pandemic. COVID-19's fast-paced global spread with a broad range of clinical manifestations compelled health regulatory organizations, public health professionals, and researchers to update their information about the disease and provide individual- and community-based guidelines, solutions, and regulations to break the disease cycle, mitigate person-to-person transmission, and reduce cross-contamination in healthcare settings. In this review, the authors provide known facts and updated information about SARS-CoV-2 virology and its new variants, transmission routes, reported clinical symptoms, epidemiology, and infection control and prevention guidelines with a focus on a hierarchy of controls in dental settings.The coronavirus disease (COVID-19) pandemic has impacted the world in unprecedented ways. It is clear that this pandemic, unlike any public health challenge in recent memory, has the potential to fundamentally alter the delivery of many healthcare services, including dentistry. As evidence-based information on COVID-19 continues to emerge, this article serves as a means to disseminate current opinions, management strategies, and the impact of COVID-19 on dentistry.The advent of the COVID-19 pandemic in the final months of 2019 prompted an extraordinary response on the part of the scientific community, with fundamental research on the biology of the virus and the human immune response, and development of testing, therapeutics, and vaccines occurring on an unprecedentedly short timescale. Within a year after the worldwide outbreak of the disease, more than 40 vaccine candidates had emerged, with 21 candidates in phase 3 trials or already being used on an emergency basis. Many of these vaccines have involved innovative platforms. In this concise review, the authors will summarize the characteristics and performance of the leading vaccines and discuss considerations of virus mutations and asymptomatic spread that may affect the ability of the worldwide community to use these vaccines as a means to defeat the pandemic and restore pre-COVID-19 normality.The COVID-19 pandemic has created a new and demanding work environment for health professionals. This article will focus on the biological issues related to infection and disease, tests developed based on these biological principles, the ways in which these tests are evaluated, and how they can be used to protect both patients, dental professionals, and office affiliates. The article will describe types of COVID-19 testing that may be performed in dental offices, the issue of testing and anxiety, regulations regarding testing that are relevant to dentists, rules for delivery and reimbursement, and strategies for proceeding as a health professional in the current challenging environment. The authors conclude that the devastating effects of the pandemic on public health has facilitated a new role for dentists as public health professionals, with the opportunity for the dental profession to actively expand its participation in improving the health of the public moving forward. Testing will continue as a means of relieving anxiety for the public.
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