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Terrell posted an update 9 months, 1 week ago
Metronomic therapy is a good option for locally advanced oral cancers in COVID-19 pandemic time.•In the present situation there is a need for a therapy that ensure patients remain operable while awaiting surgery.•Metronomic therapy is easily deliverable, minimally toxic, home based and cost effective.Objectives Squamous cell carcinoma (SCC) of the tongue is one of the most common oral cancers, tongue dorsum being a site of low incidence of primary SCC. We report a rare case of SCC of the tongue dorsum in a 69-year-old man having a history of multiple cancers, including esophageal cancer, gastric cancer, and renal cell carcinoma. We discuss the findings in relation to past reports. Materials and methods TP53 was PCR amplified using the genomic DNA extracted from peripheral blood mononuclear cells and formalin-fixed, paraffin-embedded tissue sections from the tumor site of the patient, and was sequenced. Results Physical examination revealed an elastic hard mass on the tongue dorsum, with a size of 22 × 15 mm. read more There were no palpable enlarged lymph nodes in the cervical and submandibular region. An incisional biopsy was performed. The diagnosis was well-differentiated SCC of tongue, T2N0M0, Stage II, and was treated through surgery. Surgical specimen of the deep ulcer area showed increased expression of p16 protein with no expression of p53 protein. He had a heterozygous gene polymorphism (c.215C > G p.Pro72Arg) and a germline mutation (c.838A > T p.Arg280*) of the TP53. However, there has been no recurrence or metastasis of the tongue carcinoma through the follow-up for 3 years. Conclusion Germline TP53 mutation and codon 72 polymorphism are risk factors for uncontrolled cell proliferation, possibly leading to the patient’s clinical phenotype. Therefore, strict follow-up is required when treating those who are at a higher risk of cancer due to a TP53 mutation.Purpose The purpose of this concept analysis is to develop a clear definition of adolescent autonomous motivation for physical activity (PA) based on all existing theoretical and operational definitions of autonomous motivation noted in the literature. For providers, understanding this is essential to elucidate why some adolescents choose to participate in a health-promoting behavior like PA. Researchers need to identify if they are evaluating autonomous motivation or a different type. Methods Rodgers’ Evolutionary Method of concept analysis was used. PubMed, CINAHL, ERIC, PsychInfo, and Sport Discus were searched. Results No concept analysis of adolescent autonomous motivation for PA was found. Autonomous motivation may include intrinsic motivation and two forms of extrinsic motivation, integrated and identified behavioral regulations. Defining attributes include being 1) dynamic and 2) on a continuum. Adolescent autonomous motivation for PA is a personal desire to attain PA because the behavior is fun and enjoyable, or it is an important part of how the adolescent self-identifies. The adolescent views the self as being healthy so maintains a healthy lifestyle; or views the self as athletic so needs to attain adequate MVPA. Conclusion Findings are that an autonomy-supportive environment and positive perceptions of PA are needed in order to have the outcome of increased PA. The information may be helpful for promoting consistency of measurement across disciplines. Future research with adolescents is warranted to examine underlying differences between males and females, by age, weight status, and developmental stage. Practice implications An in-depth understanding is needed for providers who are interested in developing interventions to assist adolescents in regularly attaining adequate PA.Whole-genome sequencing is accelerating identification of noncoding variants that disrupt gene expression, although reports of such regulatory variants implicated in disease remain rare. A notable subset of described variants affect transcription factor (TF) genes and other master regulators in cis through dosage effects. From the literature, we compiled 46 regulatory variants linked to 40 TF genes implicated in rare diseases. We discuss the genomic geography of these variants and the evidence presented for their potential pathogenicity. To help advance research on candidate disease variants into the literature, we introduce an evidence framework specific to regulatory variants, which are under-represented in current variant classification guidelines. The clinical research interpretation of patient genomes may be advanced by considering regulatory variants, particularly those that deregulate TF genes.The authors report the clinical and genetic investigation of a family with hypertrophic cardiomyopathy (HCM). The individuals described are three affected first-degree relatives (father, daughter and son), one affected niece and unaffected nephew and niece. Those affected all share a very similar phenotype consisting of asymmetric HCM, with hypertrophy particularly affecting the septum and the anterior wall, and similar electrocardiographic features, including a short PR interval. Case 1 (proband) presented with obstructive HCM and had undergone myectomy and mitral valve replacement. Case 2 (oldest offspring of Case 1) had non-obstructive HCM with exertional angina and NYHA II heart failure (HF) symptoms; she developed non-sustained ventricular tachycardia during follow-up and received a single-chamber ICD for primary prevention of sudden cardiac death. Case 3 (son of case 1) presented with asymptomatic non-obstructive HCM and developed NYHA II HF symptoms during follow-up. Case 4 had non-obstructive HCM, mainly with NYHA II HF symptoms. Testing of the proband for sarcomeric mutations and phenocopies was initially negative. After eight years of clinical follow-up, the suspicion of an undiscovered pathogenic gene mutation shared among the members of this family led us to enroll the proband in a whole-genome sequencing research project, which revealed a heterozygous pathogenic intronic MYBPC3 variant (c.1227-13G>A [rs397515893]), cosegregating with the phenotype.Background The coronavirus disease 2019 (COVID-19) pandemic has raised several issues regarding the management of surgical patients. The aim of the current study was to clarify the management of oncologic and surgical patients during the pandemic. Methods Relevant publications reporting on the epidemiology of the pandemic, the diagnosis of the severe acute respiratory syndrome coronavirus 2 infection, and the clinical management of cancer and surgical patients, as well as studies concerning health care workers’ safety, were included. The last date of research for this study was April 4, 2020. Results We analyzed 28 papers. Real-time polymerase chain reaction was considered the gold standard for the diagnosis of COVID-19, and computed tomography scans were considered useful for cases of diagnostic uncertainty. Cancer patients and surgical patients were confirmed to be particularly at risk of infection and negative outcome. To guarantee adequate care to these patients, while minimizing the risk for infection, the early postponing of elective surgery, the creation of COVID-free facilities and the identification of COVID- dedicated operating theaters and teams have been proposed.