Metastatic malignant cylindroma arising on a background of digenic inheritance of BRCA2 and CYLD pathogenic variants targeted with PARP inhibition.

Background: CYLD cutaneous syndrome (CCS) is caused by germline heterozygous pathogenic variants in CYLD and results in progressive formation of cylindromas, spiradenomas, or trichoepitheliomas. Malignant cylindroma is a rare skin adnexal tumour occurring in CCS that can metastasize with lethal outcomes and has limited genomic characterization. BRCA2 loss in CCS is not described and may modulate the cutaneous cancer risk of CCS.

What Is the Prevalence and Fate of Myxoid Soft-Tissue Tumors With an Indeterminate Diagnosis Prior to Resection?

Introduction: Differentiating benign and malignant myxoid soft-tissue tumors preoperatively can be challenging due to shared clinical, imaging, and histologic features. Biopsy specimens are frequently described as "low-grade myxoid neoplasms" without benign or malignant classification (ie, indeterminate). Our purpose is to evaluate the prevalence and prognosis of myxoid tumors with an indeterminate diagnosis before resection.

Distinguishing benign and malignant myxoid soft tissue tumors: Performance of radiomics vs. radiologists.

Introduction: Benign and malignant myxoid soft tissue tumors have shared clinical, imaging, and histologic features that can make diagnosis challenging. The purpose of this study is comparison of the diagnostic performance of a radiomic based machine learning (ML) model to musculoskeletal radiologists.

Methods: Manual segmentation of 90 myxoid soft tissue tumors (45 myxomas and 45 myxofibrosarcomas) was performed on axial T1, and T2FS or STIR magnetic resonance imaging sequences.

Investigating Metabolic Phenotypes for Sarcoidosis Diagnosis and Exploring Immunometabolic Profiles to Unravel Disease Mechanisms.

Sarcoidosis is a granulomatous disease affecting multiple organ systems and poses a diagnostic challenge due to its diverse clinical manifestations and absence of specific diagnostic tests. Currently, blood biomarkers such as ACE, sIL-2R, CD163, CCL18, serum amyloid A, and CRP are employed to aid in the diagnosis and monitoring of sarcoidosis. Metabolomics holds promise for identifying highly sensitive and specific biomarkers.

The use of rehabilitation beds following hip fracture leads to an increased length of stay.

The aim of this paper is to identify if there is a difference in length of stay following hip fractures when using rehabilitation beds. Prospective data was collected on all hip fracture admissions in patients over 50 years from May 2016 to February 2018 from ISD NHS Scotland to identify length of stay. It was found that patients discharged home via rehabilitation wards were less likely to have returned to their own home by 30 days post admission and were also significantly more likely to stay in hospital for 40 days or more when compared to patients discharged directly home.