Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo.

Several observational studies have demonstrated a consistent pattern of decreased melanoma risk among patients with vitiligo. More recently, this finding has been supported by a suggested genetic relationship between the two entities, with certain variants significantly associated with an increased risk of melanoma, basal cell carcinoma, and squamous cell carcinoma but a decreased risk of vitiligo. We compared 48 associated variants from a recently published GWAS and identified three variants-located in the , , and loci- that correlated with an increased risk for melanoma, basal cell carcinoma, and squamous cell carcinoma and a decreased risk for vitiligo.

Antimalarials are not Effective as Pre-Exposure Prophylaxis for COVID-19: A Retrospective Matched Control Study.

The early phase of the COVID-19 pandemic prompted a repurposing of antiviral and immunomodulatory drugs as investigational therapeutics, including hydroxychloroquine and chloroquine. While antimalarials have been well-refuted as a treatment for COVID-19, data on these drugs' role in preventing SARS-CoV-2 infection as pre-exposure prophylaxis is more limited. We investigated the efficacy of antimalarial drugs as pre-exposure SARS-CoV-2 prophylaxis in a US tertiary-care center.

Unsupervised Phenotype-Based Clustering of Clinicopathologic Features in Cutaneous Melanoma.

Pathogenic phenotypes in cutaneous melanoma have been vastly cataloged, although these classifications lack concordance and are confined to either morphological or molecular contexts. In this study, we perform unsupervised k-medoids clustering as a machine learning technique of 2,978 primary cutaneous melanomas at Mass General Brigham and apply this information to elucidate computer-defined subsets within the clinicopathologic domain. We identified five optimally separated clusters of melanoma that occupied two distinct clinicopathologic subspaces: a lower-grade partition associated with common or dysplastic nevi (i.

Risk of COVID-19 in Patients with Cancer Receiving Immune Checkpoint Inhibitors.

Objective: The aim of this study was to determine the rate of coronavirus disease-19 (COVID-19) among patients with cancer treated with immune checkpoint inhibitors (ICIs).

Materials And Methods: This was a retrospective study of 1,545 patients with cancer treated with ICIs between July 1, 2019, and February 29, 2020, and 20,418 age-, sex-, and cancer category-matched controls in a large referral hospital system. Confirmed COVID-19 case and mortality data were obtained with Massachusetts Department of Public Health from March 1 through June 19, 2020.

Air Duster Inhalant Abuse Causing Non-ST Elevation Myocardial Infarction.

Inhalant abuse, also known as huffing, is common among teenagers and adolescents in the United States and worldwide. Inhaled aerosols are dangerous due to both the presence of volatile hydrocarbons causing direct organ damage and the risk of the compressed air causing physical trauma (e.g.

A Case of Nivolumab-Induced Cutaneous Toxicity with Multiple Morphologies.

Cutaneous reactions are among the most prevalent immune-related adverse events in patients treated with immunotherapy. Given that immunotherapies often act through blocking inhibitory signals on T cells, these treatments also have the potential to generate a host of immune toxicities. We report the case of a 73-year-old woman with a history of non-small cell lung cancer treated with nivolumab 10 months prior to presentation who developed painful nodules, bullae, and a scaly rash on her extremities.

Selective uveal melanoma inhibition with calcium channel blockade.

Uveal malignant melanoma (UMM), the most common primary adult intraocular tumor with a marked metastatic potential, is genetically unique and has unfortunately had few treatment breakthroughs. In this study, we subjected a UMM cell line to high‑throughput library screening with 1,018 FDA‑approved compounds to identify potential UMM‑selective cytotoxic agents. Amlodipine, a dihydropyridine calcium channel blocker (CCB), ranked no.

Burden of unique and low prevalence somatic mutations correlates with cancer survival.

Tumor mutational burden correlates with improved survival and immunotherapy response in some malignancies, and with tumor aggressiveness in others. To study the link between mutational burden and survival, we analyzed survival effects of tumor exonic missense mutation burden (TEMMB) across 6947 specimens spanning 31 cancers which have undergone whole exome sequencing as part of TCGA. We adjusted TEMMB for age, sex, stage, and recruitment center, and computed Cox-proportional models of TEMMB survival effects.

Growth suppression by dual BRAF(V600E) and NRAS(Q61) oncogene expression is mediated by SPRY4 in melanoma.

The underlying forces that shape mutational patterns within any type of cancer have been poorly characterized. One of the best preserved exclusionary relationships is that between BRAF(V600E) and NRAS(Q61) in melanomas. To explore possible mechanisms which could explain this phenomenon, we overexpressed NRAS(Q61) in a set of BRAF(V600E) melanoma lines and vice versa.

Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas.

Importance: Shared gene variants in benign-malignant process pairs, such as BRAF mutations common to benign nevi and melanoma, are associated with differing phenotypic manifestations. Study of gene mechanisms underlying cherry angioma may uncover previously unknown disease relationships.

Objective: To identify somatic mutations present in cherry angioma specimens by using targeted next-generation sequencing.

Genetic Predisposition to Infectious Disease.

In contemporary medical practice, approaches to infectious disease management have been primarily rooted in a pathogen-centered model. However, host genetics also contribute significantly to infectious disease burden. The fast expansion of bioinformatics techniques and the popularization of the genome-wide association study (GWAS) in recent decades have allowed for rapid and affordable high-throughput genomic analyses.

Optimization of Anterior Incision Placement for Distal Biceps Repair.

Introduction Damage to the posterior interosseous nerve (PIN) is a known complication when using a cortical button during distal biceps tendon repair. Prior studies show that the trajectory of the drill through the biceps tuberosity can affect the distance from the PIN. We develop a mathematical model to predict the location of the tuberosity based on a palpable bony landmark and patient demographic factors.

Pleomorphic Dermal Sarcoma of the Scalp.

Pleomorphic dermal sarcoma (PDS) is a rare mesenchymal tissue tumor. Distinguishing PDS from similar conditions, such as atypical fibroxanthoma (AFX), its less aggressive tumor counterpart, is difficult, as they are clinically and histologically similar. We present a case of a 77-year-old man presenting with a large nodular scalp lesion of three weeks duration.

Clinical spectrum of cutaneous melanoma morphology.

Background: Melanoma can mimic other cutaneous lesions, but the full spectrum and prevalence of these morphologic variants remain largely unknown.

Objective: To classify nonacral cutaneous melanomas into distinct morphologic clusters and characterize clusters' clinicopathologic features.

Methods: All pathologic melanoma diagnoses (occurring during 2011-2016) were reviewed for routine prebiopsy digital photographs (n = 400).

Tuberculous Orchitis Following Intravesical Bacille Calmette-Guérin (BCG) Therapy.

Intravesical therapy with Bacillus Calmette-Guérin (BCG) is a common and effective therapy for bladder carcinoma in situ. The risks associated with intravesical BCG therapy are significant and rare. Accurate diagnosis and prompt initiation of management significantly reduce the morbidity associated with these risks.

Mechanical and Biochemical Effects of Progesterone on Engineered Cervical Tissue.

Preterm birth is a leading cause of morbidity and mortality in newborns. Babies born prematurely are at increased risk of lifelong health problems, including neurodevelopmental abnormalities. Cervical shortening precedes preterm birth in many women.

Cutaneous Presentation of Mesothelioma With a Sarcomatoid Transformation.

Malignant pleural mesothelioma is a rare neoplasm of mesodermal origin. Cutaneous involvement of malignant pleural mesothelioma is a very rare entity, with only 11 cases reported in the literature. Here, we describe the case of a 75-year-old man with stage IV epithelioid pleural mesothelioma, presenting with a cutaneous eruption 5 months after initial diagnosis, which revealed sarcomatoid features on skin biopsy.

Focal therapy of neuroblastoma using silk films to deliver kinase and chemotherapeutic agents in vivo.

Current methods for treatment of high-risk neuroblastoma patients include surgical intervention, in addition to systemic chemotherapy. However, only limited therapeutic tools are available to pediatric surgeons involved in neuroblastoma care, so the development of intraoperative treatment modalities is highly desirable. This study presents a silk film library generated for focal therapy of neuroblastoma; these films were loaded with either the chemotherapeutic agent doxorubicin or the targeted drug crizotinib.

Biocompatibility of a sonicated silk gel for cervical injection during pregnancy: in vivo and in vitro study.

Objective: To evaluate the biocompatibility of silk gel for cervical injection.

Study Design: Silk gel was injected into the cervix of pregnant rats on day 13 (n = 11) and harvested at day 17. Histology of silk gel was compared with suture controls.