Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.

Pathogenic variants in FLNA cause a diversity of X-linked developmental disorders associated with either preserved or diminished levels of filamin A protein and are conceptualized dichotomously as relating to underlying gain- or loss-of-function pathogenic mechanisms. Hemizygosity for germline deletions or truncating variants in FLNA is generally considered to result in embryonic lethality. Structurally, filamin A is composed of an N-terminal actin-binding region, followed by 24 immunoglobulin-like repeat units.

High grade urothelial carcinoma in kidney transplant patients with a history of BK viremia - Just a coincidence?

Introduction: Kidney transplant recipients (KTR) have a three-to-four-fold increased risk of developing urothelial carcinoma (UC) compared to the general population. BK polyoma virus (BKV) infection is known to affect approximately 15% of KTR. In vitro models support a potential pathogenic role for BKV in the development of UC.

Diagnostic evaluation of upper tract urothelial carcinoma: can we safely omit diagnostic ureteroscopy?

Objective: To identify clinicopathological or radiological factors that may predict a diagnosis of upper urinary tract urothelial cell carcinoma (UTUC) to inform which patients can proceed directly to radical nephroureterectomy (RNU) without the delay for diagnostic ureteroscopy (URS).

Patients And Methods: All consecutive patients investigated for suspected UTUC in a high-volume UK centre between 2011 and 2017 were identified through retrospective analysis of surgical logbooks and a prospectively maintained pathology database. Details on clinical presentation, radiological findings, and URS/RNU histopathology results were evaluated.

Interprofessional education and practice guide: profiling readiness for practice-based IPE.

Practice-based interprofessional education (IPE) is both a valuable and complex model of practice education. To support educators design, deliver, and implement high-quality practice-based IPE, this guideline was developed in conjunction with a placement profile. Underpinned by educational theory, this guideline and placement profile identifies key factors to consider before, during, and after practice-based IPE.

Are physiotherapy student-led services a suitable model of clinical education? - perceptions & experiences of physiotherapists, students & patients, a qualitative meta-synthesis.

Introduction: Physiotherapy student-led services (SLS) are becoming increasingly prevalent in clinical education (CE) practice within physiotherapy curricula. This innovative model differs from traditional styles adopted by many, as its primary focus is on increased student responsibility and replicating the reality of practice. However, limited literature is currently available on its suitability as a CE model and on the perceptions of such a model.

Expanding the clinicopathological spectrum of succinate dehydrogenase-deficient renal cell carcinoma with a focus on variant morphologies: a study of 62 new tumors in 59 patients.

Most succinate dehydrogenase (SDH)-deficient renal cell carcinomas (RCCs) demonstrate stereotypical morphology characterized by bland eosinophilic cells with frequent intracytoplasmic inclusions. However, variant morphologic features have been increasingly recognized. We therefore sought to investigate the incidence and characteristics of SDH-deficient RCC with variant morphologies.

Leibovich score is the optimal clinico-pathological system associated with recurrence of non-metastatic clear cell renal cell carcinoma.

Purpose: To determine the optimal post-operative risk stratification system associated with survival following surgery for clear cell renal cell carcinoma (ccRCC): tumour grade, tumour stage, Leibovich 2003, Leibovich 2018, Kattan, Stage, size, grade and necrosis (SSIGN) or UCLA Integrated Staging System (UISS) scores.

Methods: 542 patients with non-metastatic ccRCC who underwent nephrectomy 2008-2018 were reviewed. Primary outcome was recurrence-free survival (RFS), with secondary outcomes cancer-specific survival (CSS) and overall survival (OS).

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collagen VI, appears to be involved in stabilizing extracellular matrix structures, and demonstrates high expression levels in tibial nerve. Vwa1-deficient mice manifest with abnormal peripheral nerve structure/function; however, VWA1 variants have not previously been associated with human disease.

Histological Characterization of Feline Bladder Urothelial Carcinoma.

Urothelial (transitional cell) carcinoma (UC) is the most common type of bladder cancer in humans, dogs and cats, although the incidence in cats is comparatively low. This retrospective study details the histopathological features of UC of the urinary bladder in 38 samples from 35 cats. Of the 38 samples, eight had a papillary architecture and in nine the tumour cells formed tubular or acinar structures.

Computerized Image Analysis of Tumor Cell Nuclear Morphology Can Improve Patient Selection for Clinical Trials in Localized Clear Cell Renal Cell Carcinoma.

Background: Clinicopathological scores are used to predict the likelihood of recurrence-free survival for patients with clear cell renal cell carcinoma (ccRCC) after surgery. These are fallible, particularly in the middle range. This inevitably means that a significant proportion of ccRCC patients who will not develop recurrent disease enroll into clinical trials.

Combining two grading systems: the clinical validity and inter-observer variability of the 1973 and 2004 WHO bladder cancer classification systems assessed in a UK cohort with 15 years of prospective follow-up.

Purpose: Paucity of reliable long-term data on the prognostic implications of the 2004 WHO bladder cancer classification system necessitates utilisation of both this and the 1973 grading systems. This study evaluated, in noninvasive (pTa) bladder tumours, the prognostic value of the 2004 system independently and in combination with the 1973 system while establishing concordance between tertiary centre uropathologists.

Methods: We used a cohort of non-muscle invasive bladder cancer (NMIBC) patients diagnosed between 1991 and 93 where tumour features were gathered prospectively with detailed cystoscopic follow-up data recorded over 15 years.

Susana Godinho: Placing cell biology at the center of cancer research.

Godinho investigates the role centrosomes play in cancer cell biology.

Yan Song: How time flies.

Song investigates the mechanisms that control stem cell fate in development and disease.

Michael Lazarou: Building a body of research.

Lazarou investigates the relationship between mitochondria and autophagy.

Kazuhiro Maeshima: Excitement under the microscope.

Maeshima investigates the higher order structures and dynamics of chromatin.

Brajendra Tripathi: Keeping an eye out for translational research.

Tripathi investigates how the tumor suppressor DLC1 is regulated by oncogenic kinases.

Efraín E. Rivera-Serrano: Personal training for scientists.

Rivera-Serrano investigates the host cell genes that support viral infection.

Greg Alushin: The shape of things to come.

Alushin investigates the structural biology of biomechanical processes in the cytoskeleton.

Kota Saito: Getting out and about.

Saito studies the mechanisms that control secretion of collagen from the ER.

Gabriel Muhire Gihana: A candle loses nothing by lighting other candles.

Gihana investigates how cells coordinate their shape and polarity with chromosome segregation.

Lillian Fritz-Laylin: Keeping up to speed with evolutionary cell biology.

Fritz-Laylin studies the evolution of complex protein networks associated with cell movement.

Gustavo Silva: Translating the ubiquitin code.

Silva investigates how ribosomal protein complexes are regulated by K63 ubiquitination.