Identification of heterogeneity and prognostic key genes associated with uveal melanoma using single-cell RNA-sequencing technology

xlomafota13 shared this article with you from Inoreader Identification of heterogeneity and prognostic key genes associated with uveal melanoma using single-cell RNA-sequencing technology Via Melanoma Research - Published Ahead-of-Print Uveal melanoma (UM) is the most common intraocular malignancy in adults. The prognosis is poor once metastasis has developed. The treatment of metastatic UM remains challenging nowadays due to lacking a deep understanding of the biological characteristics of this disease. Here, we revealed the cell subpopulations w ith distinct functional status and the existence of cells with high invasive potential within heterogeneous primary and metastatic UM. The single-cell sequencing data were retrieved from GSE139829 and GSE138433, through which we identified a new cell cluster related to metastatic UM as a unique type of immune cell. The cell–cell communication was conducted by 'Cellchat' to understand the cell crosstalk between these immune cells and their surrounding cells. The crucial signals contributing most to outgoing or incoming signaling of this cell group were identified to reveal the crucial pathway genes. Furthermore, we judged the prognostic value of these candidates on the basis of the data downloaded from The Cancer Genome Atlas. The results demonstrated that the increased IL10, SELPLG, EPHB and ITGB2 signaling pathways could be promising predicting factors for the patient prognosis in UM. Conclusively, we discover the potential key signals of UM for occurrence and metastasis, and also provide a theoretical basis for judging whether there is a high risk of metastasis or recurrence. * Songlin Sun and Rui Shi contributed equally to the writing of this article. Received 25 May 2021 Accepted 24 August 2021 Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website, www.melanomaresearch.com. Correspondence to Fengyuan Sun, PhD, MD, Tianjin Medical University Eye Hospital, Xiqing District, No.251 Fukang Road, Tianjin 300384, Tianjin, China, Tel: +086 022 86428810; e-mail: tianjiny2020@163.com Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Thyroid Cancer Incidence Trends

xlomafota13 shared this article with you from Inoreader Thyroid Cancer Incidence Trends Among Filipinos in the United States Via The Laryngoscope Objective To analyze thyroid cancer incidence trends among Filipinos relative to non-Filipino Asians and non-Hispanic Whites in the US. Study Design Population-based analysis of cancer incidence data. Methods Population-based analysis of cancer incidence data from Surveillance, Epidemiology, and End Results 9 detailed Asian/Pacific Islander subgroup incidence and population datasets. Adult patients aged 20 and older with thyroid cancer diagnosed in 2004 to 2014 were included. Annual percent change (APC) of the incidence rates were calculated using joinpoint regression analysis. Results The incidence rates were 19.57 (95% CI 19.03–20.12) per 100,000 for Filipinos, 10.45 (95% CI 10.22–10.68) per 100,000 for non-Filipino Asians, and 13.94 (95% CI 13.85–14.02) per 100,000 for non-Hispanic Whites. The highest increase was seen among non-Hispanic Whites (average APC 5.04, 95% CI 4.61–5.46). Incidence rates of tumors ≤ 2 cm remained stable among Filipinos but increased in non-Filipino Asians (average APC 5.38, 95% CI 2.51–8.34) and non-Hispanic Whites (average APC 5.81 95% CI 4.52–7.11). Conclusion Filipinos have high incidence of thyroid cancer compared with other racial/ethnic groups. However, non-Hispanic Whites have the highest increase in incidence rates, resulting in a significant narrowing of the gap in incidence rates between Filipinos and non-Hispanic Whites. This is most likely due to enhanced detection of small tumors in non-Hispanic Whites. Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Association between olfactory dysfunction and COVID-19 severity: A prospective study in a highly complex hospital in Peru

xlomafota13 shared this article with you from Inoreader Association between olfactory dysfunction and COVID-19 severity: A prospective study in a highly complex hospital in Peru Via ear nose throat Ear Nose Throat J. 2021 Dec 15:1455613211066691. doi: 10.1177/01455613211066691. Online ahead of print. ABSTRACT INTRODUCTION: Olfactory dysfunction has been included among the early symptoms of coronavirus disease (COVID-19). Evidence suggests that a relationship exists between the duration of olfaction disorders and the probability of developing severe COVID-19. Given the scope of the COVID-19 pandemic, this study aimed to determine the frequency of smell alteration and it s association with the severity of COVID-19 in a referral hospital in Peru, which is one of the most affected countries in the Latin American region. MATERIALS AND METHODS: This study was an observational, prospective cohort study that included patients with COVID-19 who were treated at the Hospital Nacional Edgardo Rebagliati Martins from August to November 2020. To assess the association, the chi-square test of independence or Fisher's exact test was performed. The outcome variable was COVID-19 severity, and the exposure variable was olfactory dysfunction. The first data collection was in the emergency department and the follow-up was via telephone. RESULTS: A total of 179 patients were included. The mean age was 61.6 ± 15.5 years, and 129 patients (72.1%) were male. Olfactory dysfunction was observed in 43 patients (24%). An inverse association was found between age and olfactory dysfunction (P = .002). No significant association was found between COVID-19 sev erity level and olfactory alteration (P = .056). However, a direct association was found between COVID-19 severity and age (P = .003), cough (P < .001), and respiratory distress (P = .003). CONCLUSION: This study did not find any association between the severity of COVID-19 and olfactory dysfunction. It showed a low incidence rate of smell alteration compared with studies from other regions. Moreover, smell alteration was associated with younger age. PMID:34908507 | DOI:10.1177/01455613211066691 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Concomitant Variants in NF1, LZTR1, and GNAZ Genes Probably Contribute to the Aggressiveness of Plexiform Neurofibroma and Warrant Treatment with MEK Inhibitor

xlomafota13 shared this article with you from Inoreader Concomitant Variants in NF1, LZTR1, and GNAZ Genes Probably Contribute to the Aggressiveness of Plexiform Neurofibroma and Warrant Treatment with MEK Inhibitor Via Experimental Dermatology Abstract Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggesting contributions of other modifiers in addition to somatic loss of NF1. Here, we investigated a life-threatening plexiform neurofibroma in a 9-month-old female infant with NF1. Germline mutations in two Rasopathy-associated genes were identified using whole exome sequencing - a de-novo pathogenic variant in the NF1 gene, and a known pathogenic variant in the LZTR1 gene. Somatic analysis of the plexiform neurofibroma revealed NF1 loss of heterozygosity and a variant in GNAZ, a gene encoding a G Protein Coupled Receptor. Cells expressing mutant GNAZ exhibited increased ERK 1,2 activation compared to those expressing wild type GNAZ. Taken together, we suggest the variants in NF1, LZRT1, and GNAZ act synergistically in our patient, leading to MAPK pathway activation and contributing to the severity of the patient's plexiform neurofibromatosis. After treatment with the MEK inhibitor, trametinib, a prominent clinical improvement was observed in this patient. This case study contributes to the knowledge of germline and somatic non-NF1 variants affecting the NF1 clinical phenotype and supports use of personalized, targeted therapy. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

E‐cigarette use and tobacco harm reduction: A pilot survey study evaluating perspectives of head and neck surgeons

xlomafota13 shared this article with you from Inoreader E‐cigarette use and tobacco harm reduction: A pilot survey study evaluating perspectives of head and neck surgeons Via Head & Neck Abstract Background Electronic cigarettes (EC) are popular devices that aerosolize a nicotine and have been controversially considered tool for smoking cessation and tobacco harm reduction (THR). The purpose of this pilot study was to identify head and neck cancer (HNC) surgeons' attitudes/perspectives of EC and smoking cessation counseling. Methods Cross-sectional survey administered to American Head and Neck Society (AHNS) members. Results Response rate was 136 members (15.1%) with the majority 102 (75.00%) having unfavorable attitude toward EC for smoking cessation. Fifty-eight respondents (42.7%) were familiar with THR. Those familiar with THR 37 (63.79%) routinely inquire about EC use. Compared between THR familiarity, 22 (37.93%) believed the benefits of EC for smoking cessation outweighed the potential risks. Conclusions HNC specialists have an unfavorable attitude toward EC. Those familiar with THR were more likely to inquire about EC use. They were also less likely to have a definitive opinion on the benefits of quitting combustible cigarettes. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Autologous fat transfer rescues expanded skin from expansion failure: A retrospective cohort study in Asians

xlomafota13 shared this article with you from Inoreader Autologous fat transfer rescues expanded skin from expansion failure: A retrospective cohort study in Asians Via Journal of plastic, reconstructive & aesthetic surgery : JPRAS J Plast Reconstr Aesthet Surg. 2021 Nov 18:S1748-6815(21)00599-4. doi: 10.1016/j.bjps.2021.11.055. Online ahead of print. ABSTRACT BACKGROUND: Soft tissue expansion is a common technique for the regeneration of extra skin to repair skin defects. However, some warning signs like skin thinning and telangiectasia are often found during the expansion process, which indicates the skin flaps cannot be further expanded. These signs may result in the suspension of expansion or ultimately jeopardize the final outcome. Fat grafting is used to treat these potential complications and enable the continuation of the expansion procedure in some cases. In this study, we aimed to investigate the efficiency and safety of fat grafting in this process. METHODS: The study was conducted on patients from January 2012 to December 2017 with warning signs of expansion treated with fat grafting (treatment group) or pause expansion (control group). Follow-u p data, such as expansion status, dermal thickness, telangiectasia, skin texture using volume assessment, B-mode ultrasound, and semiquantitative scoring, were collected. RESULTS: A total of 67 expanded skin regions with warning signs were enrolled. The expansion fold increased 2.14-fold at 12 weeks after treatment compared with 0.74-fold in control (P=0.02). The semiquantitative score was significant improved at 4 weeks (9.03 ± 0.73 vs. 7.45 ± 0.55; p=0.033). Meanwhile, the skin thickness in the experimental group did not show decreasing trend even in the continued expansion process. CONCLUSIONS: Autologous fat grafting represents an effective and safe method to rescue expanded skin from limited skin regeneration. This technique also represents a valuable tool to increase the chances for further expansion. PMID:34903491 | DOI:10.1016/j.bjps.2021.11.055 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Hearing Loss and Its Burden of Disease in a Large German Cohort—Hearing Loss in Germany

xlomafota13 shared this article with you from Inoreader Hearing Loss and Its Burden of Disease in a Large German Cohort—Hearing Loss in Germany Via The Laryngoscope Objectives/Hypothesis Hearing loss is the most common sensory impairment worldwide. It restricts patients in many aspects of their daily lives and can lead to social exclusion. Understanding this burden is a mandatory requirement for the care of those affected. Therefore, the aim of this study was to estimate the burden of hearing loss in a large German cohort. Study Design Cohort study. Methods The Gutenberg Health Study is designed as a single-center, prospective, and observational cohort study and representative for the city of Mainz, Germany, with its district. Participants were interviewed concerning common otologic symptoms and tested by pure-tone audiometry. The primary outcome was hearing impairment stratified by age and sex. The prevalence of tinnitus was estimated for a subcohort to calculate disability-adjusted life years (DALYs). All results were weighted by the European Standard Population (ESP) 2013. Results A total of 5,024 participants (mean age: 61.2 years, 2,591 men and 2,433 women) were included in the study. Hearing impairment showed the following prevalence: 28.2% (95% confidence interval [CI], 26.9%–29.4%) mild impairment, 10.1% (95% CI, 9.3%–11.0%) moderate impairment, 2.3% (95% CI, 1.9%–2.7%) moderately severe impairment, 0.2% (95% CI, 0.1%–0.4%) severe impairment, 0% (95% CI, 0.0%–0.1%) profound impairment, and 0.1% (95% CI, 0.0%–0.2%) complete impairment. Weighted for the ESP 2013 (all ages), hearing impairment across all levels (with/without tinnitus) causes a total of 2,118.97 DALYs per 100,000. Conclusion With 40.9% affected, the hearing loss represents a relevant burden of the German population. Understanding this will provide the basis for future guidelines on how to care for these patients. Level of Evidence 2 Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.