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.

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.

Skin Color Match in Head and Neck Reconstructive Surgery

xlomafota13 shared this article with you from Inoreader Skin Color Match in Head and Neck Reconstructive Surgery Via The Laryngoscope Objectives/Hypothesis To quantify the degree of color match achieved during microvascular facial reconstruction, and to describe a novel technique for improving reconstructive skin color match. We hypothesize that split-thickness skin grafts (STSG) placed atop de-epithelialized free tissue produces better facial skin color match than free tissue with intact epithelium. Study Design Cross sectional photographic study of reconstructed facial skin color match. Methods Sixty-eight adults, who underwent head and neck reconstructive surgery, were divided into six categories based on cutaneous reconstructive technique: cervicofacial flap, radial forearm free flap (RFFF), fibula free flap, anterolateral thigh free flap (ALT), STSG over adiopofascial flap (STAFF), and STSG over myogenous flap (STMF). Averaged color samplings of the reconstructed defect and adjacent normal skin were taken from digital photographs. The color difference was calculated using the delta-E calculation. Blinded expert observers also rated the degree of color match. Nonparametric cohort contrast and correlation statistical analyses were performed. Results The mean delta-E's and 10-point Likert ratings for the ALT, fibula, RFFF, STAFF, STMF, and cervicofacial flaps were 11.6, 10.0, 7.7, 6.3, 8.8, and 4.7, and 5.1, 6.4, 2.4, 3.2, 2.7, and 1.1, respectively. Likert scale inter-rater correlation was strong, with coefficient = 0.80. Conclusions On average, STSG over de-epithelialized myogenous and adipofascial free tissue transfers produced a better color match than the skin paddles of donor sites, with the exception of the radial forearm donor site. Delta-E values obtained from photos correlated well with expert ratings of color match. This reliable technique for quantifying color match may be used in future studies. Level of Evidence 3 Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

UK Guidelines for Lipomodelling of the Breast on behalf of Plastic, Reconstructive and Aesthetic Surgery and Association of Breast Surgery Expert Advisory Group

xlomafota13 shared this article with you from Inoreader UK Guidelines for Lipomodelling of the Breast on behalf of Plastic, Reconstructive and Aesthetic Surgery and Association of Breast Surgery Expert Advisory Group Via Journal of plastic, reconstructive & aesthetic surgery : JPRAS J Plast Reconstr Aesthet Surg. 2021 Oct 19:S1748-6815(21)00473-3. doi: 10.1016/j.bjps.2021.09.033. Online ahead of print. ABSTRACT Lipomodelling has become increasingly popular for reconstructive, aesthetic and therapeutic indications. The guidelines summarise available evidence for indications, training, technique, audit and outcomes in lipomodelling and also highlight areas for further research. PMID:34895855 | DOI:10.1016/j.bjps.2021.09.033 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Chromophobe renal cell carcinoma-like thyroid carcinoma: possible misdiagnosis as metastatic renal cell carcinoma

xlomafota13 shared this article with you from Inoreader Chromophobe renal cell carcinoma-like thyroid carcinoma: possible misdiagnosis as metastatic renal cell carcinoma Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 Nov 15;14(11):1095-1101. eCollection 2021. ABSTRACT To date, multiple thyroid cancer variants have been reported. Herein, we report a rare case of chromophobe renal cell carcinoma-like thyroid carcinoma (CRETHCA) in a 60-year-old woman, for which the morphologic findings resembled those of chromophobe renal cell carcinoma (ChRCC). ChRCC of the kidney is characterized by large polygonal tumor cells with distinct cell borders, perinuclear clearing, multiple binucleate cells, and strongly positive immunostaining for paired box gene 8 (PAX8) and carbonic anhydrase IX (CA IX). In our case, the thyroid gland tumor was incidentally detected by routine medical screening without sufficient medical information; it showed similar histology and immunohistochemical features to ChRCC and was initially misdiagnosed as metastatic ChRCC. Additional tests, including kidney computed tomography and positron emission tomography, revealed no abnormalities in the patient's kidney; therefore, we diagnosed the tumor as CRETHCA. Focal weak staining for thyroid transcription factor 1 (TTF-1) was the only supporting evidence that it was a primary thyroid neoplasm. To the best of our knowledge, this is the second report of CRETHCA in literature. This novel variant is very difficult to distinguish from metastatic ChRCC and can be a diagnostic challenge for pathologists. Further studies of similar cases should be done to define this new entity. PMID:34900078 | PMC:PMC8661068 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Sinonasal blue nevus: a case report and review

xlomafota13 shared this article with you from Inoreader Sinonasal blue nevus: a case report and review Via ear nose throat Ear Nose Throat J. 2021 Dec 10:1455613211064014. doi: 10.1177/01455613211064014. Online ahead of print. ABSTRACT Blue nevus is a type of uncommon benign pigmented lesion in the skin or the mucosa of human body which is featured by pigmented dendritic melanocytes and spindled melanocytic cells. Sinonasal blue nevus is extremely rare. We reported a sinonasal blue nevus case with the background of pituitary adenoma, type 2 diabetes mellitus, and hypertension (including endoscop ic and histological pictures). Further, the existing literature about blue nevus is reviewed. This paper puts a spotlight on the potential correlation between blue nevus with the endocrine system disorder and provides support for further experimental research. PMID:34892997 | DOI:10.1177/01455613211064014 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.