Background And Objective: Circulating tumor DNA (ctDNA) can be used for sensitive detection of minimal residual disease (MRD). However, the probability of detecting ctDNA in settings of low tumor burden is limited by the number of mutations analyzed and the plasma volume available. We used a whole-genome sequencing (WGS) approach for ctDNA detection in patients with urothelial carcinoma.
View Article and Find Full Text PDFCancer of unknown primary (CUP) tumors are biologically very heterogeneous, which complicates stratification of patients for treatment. Consequently, these patients face limited treatment options and a poor prognosis. With this study, we aim to expand on the current knowledge of CUP biology by analyzing two cohorts: a well-characterized cohort of 44 CUP patients, and 213 metastatic patients with known primary.
View Article and Find Full Text PDFTreatment resistance remains a major issue in aggressive prostate cancer (PC), and novel genomic biomarkers may guide better treatment selection. Circulating tumor DNA (ctDNA) can provide minimally invasive information about tumor genomes, but the genomic landscape of aggressive PC based on whole-genome sequencing (WGS) of ctDNA remains incompletely characterized. Thus, we here performed WGS of tumor tissue (n = 31) or plasma ctDNA (n = 10) from a total of 41 aggressive PC patients, including 11 hormone-naïve, 15 hormone-sensitive, and 15 castration-resistant patients.
View Article and Find Full Text PDFIntroduction: For research to effectively guide clinical decision making, appropriate interpretation of data is paramount. The P -value is a useful tool for guiding the interpretation of data. However, despite its utility, the P -value is not without limitations.
View Article and Find Full Text PDFCase: A 19-year-old man underwent arthroscopic posterior glenoid reconstruction with a distal tibia allograft (DTA) after failing 2 posterior, soft-tissue instability surgeries. Although he experienced near-complete resolution of symptoms and return to sport, graft resorption was noted 7 months postoperatively. The patient underwent revision surgery for screw removal.
View Article and Find Full Text PDFIntroduction: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations thereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for the malignant transformation of gonadoblastoma in the dysgenetic gonad.
View Article and Find Full Text PDFJ Shoulder Elb Arthroplast
November 2023
Background: There is limited data evaluating post-operative component position and fixation in reverse shoulder arthroplasty (RSA). Therefore, the purpose of this study was to evaluate baseplate position and fixation using routine pre-operative CT and post-operative radiographs.
Methods: A retrospective analysis of a series consecutive patient who underwent primary RSA was performed.
Background: Field cancerization is characterized by areas of normal tissue affected by mutated clones. Bladder field cancerization may explain the development and recurrence of bladder cancer and may be associated with treatment outcomes.
Objective: To investigate the predictive and prognostic roles of field cancerization in patients with high-risk non-muscle-invasive bladder cancer (NMIBC) treated with bacillus Calmette-Guérin (BCG).
Until recently, intronic lariats were regarded as short-lasting splicing byproducts with no apparent function; however, increasing evidence of stable derivatives suggests regulatory roles. Yet little is known about their characteristics, functions, distribution, and expression in healthy and tumor tissue. Here, we profiled and characterized circular stable intronic sequence RNAs (sisRNAs) using total RNA-Seq data from bladder cancer (BC; = 457, UROMOL cohort), healthy tissue ( = 46), and fractionated cell lines ( = 5).
View Article and Find Full Text PDFPurpose: The purposes of this study were to determine the incidence and key characteristics of meniscus injuries in professional baseball players, assess current treatment strategies, determine the return to play rates at any level (RTP) and at the same level (RSL), and identify prognostic factors that predict injury severity.
Methods: After approval from the Major League Baseball (MLB) Research Committee and our institutional review board, the MLB Health and Injury Tracking System was used to identify meniscus injuries occurring across MLB and Minor League Baseball (MiLB) from 2011 to 2017. Analyzed injuries occurred during normal baseball activity in a player who was active on an MLB or MiLB roster and resulted in at least 1 day missed.
Background: Current bulk transcriptomic classification systems for bladder cancer do not consider the level of intratumor subtype heterogeneity.
Objective: To investigate the extent and possible clinical impact of intratumor subtype heterogeneity across early and more advanced stages of bladder cancer.
Design Setting And Participants: We performed single-nucleus RNA sequencing (RNA-seq) of 48 bladder tumors and additional spatial transcriptomics for four of these tumors.
The data presented here were collected independently for 6 real buildings by researchers of different institutions and gathered in the context of the IEA EBC Annex 81 Data-driven Smart Buildings, as a joint effort to compile a diverse range of datasets suitable for advanced control applications of indoor climate and energy use in buildings. The data were acquired by energy meters, both consumption and PV generation, and sensors of technical installation and indoor climate variables, such as temperature, flow rate, relative humidity, CO level, illuminance. Weather variables were either acquired by local sensors or obtained from a close by meteorological station.
View Article and Find Full Text PDFUnlabelled: The cGAS-STING pathway serves a critical role in anticancer therapy. Particularly, response to immunotherapy is likely driven by both active cGAS-STING signaling that attracts immune cells, and by the presence of cancer neoantigens that presents as targets for cytotoxic T cells. Chromosomal instability (CIN) is a hallmark of cancer, but also leads to an accumulation of cytosolic DNA that in turn results in increased cGAS-STING signaling.
View Article and Find Full Text PDFThis paper provides a laboratory workflow for single-nucleus RNA-sequencing (snRNA-seq) including a protocol for gentle nuclei isolation from fresh frozen tumor biopsies, making it possible to analyze biobanked material. To develop this protocol, we used non-frozen and frozen human bladder tumors and cell lines. We tested different lysis buffers (IgePal and Nuclei EZ) and incubation times in combination with different approaches for tissue and cell dissection: sectioning, semi-automated dissociation, manual dissociation with pestles, and semi-automated dissociation combined with manual dissociation with pestles.
View Article and Find Full Text PDFPurpose: To investigate the use of plasma and urine DNA mutation analysis for predicting neoadjuvant chemotherapy (NAC) response and oncological outcome in patients with muscle-invasive bladder cancer.
Experimental Design: Whole-exome sequencing of tumor and germline DNA was performed for 92 patients treated with NAC followed by radical cystectomy (RC). A custom NGS-panel capturing approximately 50 mutations per patient was designed and used to track mutated tumor DNA in plasma and urine.
Objectives: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus.
View Article and Find Full Text PDFPurpose: To characterize the shoulder injuries experienced by baseball batters and position players (nonpitchers); to quantify the outcomes of these injuries with respect to time out of play, recurrence, and surgery rates; and to identify any injury patterns that are associated with worse outcomes.
Methods: Between 2011 and 2017, all Major League Baseball (MLB) and Minor League Baseball (MiLB) players who sustained shoulder injuries were identified using the MLB Health and Injury Tracking System (HITS). Injuries were included if they were sustained during baseball activity, resulted in at least 1 day missed (DM), and occurred in position players (nonpitchers).
Background: There exists anecdotal evidence that influential faculty members actively dissuade orthopedic surgery residents from pursuing a fellowship in shoulder and elbow due to a perceived lack of availability of jobs following graduation. The aims of the present study are to evaluate whether this perception is true by characterizing the early career opportunities and practice characteristics of recent graduates of shoulder and elbow fellowship programs through a survey of graduates of the past 5 years.
Methods: An anonymous 39-question survey was designed and approved by the leadership of the American Shoulder and Elbow Surgeons (ASES).
Hypothesis: The purpose of this retrospective study is to investigate the clinical and radiographic outcomes associated with the use of a standard metal plate as an endosteal implant in combination with a lateral locking plate to treat 4 patients with displaced proximal humerus fractures.
Methods: A retrospective case series study design was utilized, and the medical records of 4 patients with displaced, 3-part proximal humerus fractures treated using this technique between January 2019 and July 2021 were reviewed for this study. The mean age was 52 years (range, 44-57 years).
Int J Cancer
May 2022
The recurrence rate of colorectal liver metastases (CRLM) patients treated with curative intent is above 50%. Standard of care surveillance includes intensive computed tomographic (CT) imaging as well as carcinoembryonic antigen (CEA) measurements. Nonetheless, relapse detection often happens too late to resume curative treatment.
View Article and Find Full Text PDFCurr Rev Musculoskelet Med
August 2021
Purpose Of Review: A successful reverse total shoulder arthroplasty requires careful preoperative planning and perioperative management. Preoperative comorbidity risks, perioperative pain management, and postoperative rehabilitation are all critical components of this arthroplasty. The current review examines available literature to guide the perioperative care of the reverse total shoulder arthroplasty patient.
View Article and Find Full Text PDFJBJS Essent Surg Tech
February 2021
Background: The lesser tuberosity osteotomy (LTO) is a commonly employed technique for mobilizing the subscapularis tendon during anatomic total shoulder arthroplasty that is performed through a deltopectoral approach. During this procedure, the lesser tuberosity is osteotomized from the proximal aspect of the humerus while maintaining the strong tendon-to-bone attachment of the subscapularis tendon insertion. After the shoulder arthroplasty is performed, the lesser tuberosity osseous fragment is then resecured to the proximal aspect of the humerus with heavy nonabsorbable suture, which allows for direct bone-to-bone compression and healing of the fragment to the proximal aspect of the humerus.
View Article and Find Full Text PDF»: Longitudinal clinical and radiographic success of total shoulder arthroplasty (TSA) is critically dependent on optimal glenoid component position.
»: Historically, preoperative templating utilized radiographs with commercially produced overlay implant templates and a basic understanding of glenoid morphology.
»: The advent of 3-dimensional imaging and templating has achieved more accurate and precise pathologic glenoid interrogation and glenoid implant positioning than historical 2-dimensional imaging.
Overtreatment with cisplatin-based chemotherapy is a major issue in the management of muscle-invasive bladder cancer (MIBC), and currently none of the reported biomarkers for predicting response have been implemented in the clinic. Here we perform a comprehensive multi-omics analysis (genomics, transcriptomics, epigenomics and proteomics) of 300 MIBC patients treated with chemotherapy (neoadjuvant or first-line) to identify molecular changes associated with treatment response. DNA-based associations with response converge on genomic instability driven by a high number of chromosomal alterations, indels, signature 5 mutations and/or BRCA2 mutations.
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