Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers.

Background: Hormone receptor expression is a known positive prognostic and predictive factor in breast cancer; however, limited evidence exists on its prognostic impact on prognosis of young patients harboring a pathogenic variant (PV) in the BRCA1 and/or BRCA2 genes.

Patients And Methods: This international, multicenter, retrospective cohort study included young patients (aged ≤40 years) diagnosed with invasive breast cancer and harboring germline PVs in BRCA genes. We investigated the impact of hormone receptor status on clinical behavior and outcomes of breast cancer.

Tumor-Infiltrating T Cells in Skin Basal Cell Carcinomas and Squamous Cell Carcinomas: Global Th1 Preponderance with Th17 Enrichment-A Cross-Sectional Study.

Basal cell carcinomas (BCCs) and squamous cell carcinomas (SCCs) are high-incidence, non-melanoma skin cancers (NMSCs). The success of immune-targeted therapies in advanced NMSCs led us to anticipate that NMSCs harbored significant populations of tumor-infiltrating lymphocytes with potential anti-tumor activity. The main aim of this study was to characterize T cells infiltrating NMSCs.

Transdiaphragmatic intercostal hernia induced by sternutation: A case report.

Introduction And Importance: Sternutation is, by definition, a situation that increases abdominal pressure. However, it has not been clearly linked to protrusion of abdominal content through weaknesses in the abdominal boundaries.

Case Presentation: Here we present a case report in which the only trigger factor found for an abdominal content protrusion was a sternutation episode.

The value of axillary, facial, occipital, subclavian and common carotid arteries ultrasound in the diagnosis of giant cell arteritis.

Objective: To assess the diagnostic value for GCA in adding the axillary arteries (AX) to the temporal artery (TA) ultrasound, particularly in patients with a cranial phenotype of the disease; and to investigate the utility of facial (FA), occipital (OC), subclavian (SC), and common carotid (CC) ultrasound in patients with suspected GCA.

Methods: Patients with new-onset GCA and a positive ultrasound of the TA, AX, FA, OC, SC or CC, followed at the rheumatology departments of two academic centres, were retrospectively included.

Results: 230 patients were assessed.

Long-term evaluation of anterior thalamic deep brain stimulation for epilepsy in the European MORE registry.

Objective: Short-term outcomes of deep brain stimulation of the anterior nucleus of the thalamus (ANT-DBS) were reported for people with drug-resistant focal epilepsy (PwE). Because long-term data are still scarce, the Medtronic Registry for Epilepsy (MORE) evaluated clinical routine application of ANT-DBS.

Methods: In this multicenter registry, PwE with ANT-DBS were followed up for safety, efficacy, and battery longevity.

Telerehabilitation in Children and Adolescents with Cystic Fibrosis: A Scoping Review.

Cystic fibrosis requires regular monitoring and intervention by healthcare teams; despite that, adherence to therapeutic measures is less than desired. The evolution of technology has allowed much of the care provided in person to be replaced by a telehealth delivery model, but studies on telerehabilitation are scarce and dispersed. This scoping review aimed to identify which domains of rehabilitation intervention are mediated by information and communication technologies and how they are developed in the provision of care to children and adolescents with cystic fibrosis.

Two Broad Categories Overlapping With Rheumatoid Arthritis Observed in Synovial Biopsies from Patients With Juvenile Idiopathic Arthritis.

Objective: The objective is to characterize transcriptomic profiles and immune cell composition and distribution in juvenile idiopathic arthritis (JIA) synovial biopsies, assess for associations of these features with clinical parameters, and compare JIA and rheumatoid arthritis (RA) synovial features.

Methods: RNA sequencing (RNASeq) was performed on 24 samples, with pathway analysis and inference of relative abundance of immune cell subsets based on gene expression data. Two multiplex fluorescence immunohistochemistry (IHC) panels were performed on 28 samples (including 13 on which RNASeq was performed), staining for CD206 classical and CD206 nonclassical macrophages, and CD8 and CD4 T and B lymphocytes.

Traumatic abdominal wall hernia in childhood: a bicycle handlebar injury.

A female patient in her middle childhood presented to the paediatric emergency room (ER) after a bicycle accident with an abdominal impact on the bicycle handlebar. On physical examination, a painful ecchymosis on the upper left quadrant was the only abnormal finding. Abdominal ultrasound showed no intra-abdominal lesions, and the patient was discharged home after 24 hours under monitoring.

Foreign body in the upper oesophagus - A double scope extraction approach.

Flexible esophagogastroduodenoscopy is the gold standard for removing FB of the upper gastrointestinal tract. However large sharped FB are usually challenging to remove and are the subtype that most often requires surgery. We describe a case of a patient with a dental prothesis impacted in the proximal oesophagus.

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in the MYPBC3 gene, which encodes the cardiac myosin-binding protein C (cMyBP-C). Most pathogenic variants in MYPBC3 are either nonsense mutations or result in frameshifts, suggesting that the primary disease mechanism involves reduced functional cMyBP-C protein levels within sarcomeres. However, a subset of MYPBC3 variants are missense mutations, and the molecular mechanisms underlying their pathogenicity remain elusive.

Pearls & Oy-sters: A Challenging Optic Neuropathy-What Not to Miss in Optic Nerve Sheath Enhancement.

Optic neuropathies include a wide range of disorders from ischemic, toxic, demyelinating, or inflammatory processes with acute/subacute onset to more gradual compressive or genetic etiologies. Accurate clinical history and multimodality optic nerve imaging including MRI and optical coherence tomography have greatly improved the diagnosis of patients with optic neuropathies. We report a case of a woman with severe monocular visual acuity deficit.

The degree of bowel remission predicts phenotype progression in Crohn's disease.

Background: Patients with Crohn's disease (CD) are at risk of progressing from inflammatory to stricturing and penetrating phenotypes. The influence of the depth of remission on the risk of progression has not been adequately evaluated.

Methods: A retrospective cohort study including surgically naïve CD patients with inflammatory phenotype evaluated concomitantly by magnetic resonance enterography and colonoscopy.

Management of the Devastated Bladder Outlet after Prostate CANCER Treatment.

Purpose Of Review: Devastating complications of the bladder outlet resulting from prostate cancer treatments are relatively uncommon. However, the combination of the high incidence of prostate cancer and patient longevity after treatment have raised awareness of adverse outcomes deteriorating patients' quality of life. This narrative review discusses the diagnostic work-up and management options for bladder outlet obstruction resulting from prostate cancer treatments, including those that require urinary diversion.

A scoping review to create a framework for the steps in developing condition-specific preference-based instruments de novo or from an existing non-preference-based instrument: use of item response theory or Rasch analysis.

Background: There is no widely accepted framework to guide the development of condition-specific preference-based instruments (CSPBIs) that includes both de novo and from existing non-preference-based instruments. The purpose of this study was to address this gap by reviewing the published literature on CSPBIs, with particular attention to the application of item response theory (IRT) and Rasch analysis in their development.

Methods: A scoping review of the literature covering the concepts of all phases of CSPBI development and evaluation was performed from MEDLINE, Embase, PsychInfo, CINAHL, and the Cochrane Library, from inception to December 30, 2022.

Results Of Minimally Invasive Vats Thymectomy In Miastenia Gravis Patients Compared With More Invasive Approaches - 10-Year Experience In A Single Center.

Introduction: Myasthenia gravis (MG) is an autoimmune, neurologic disease that causes a wide range of symptoms. While the transsternal, transcervical and thoracotomy approaches are accepted as effective, there is still debate regarding the VATS approach.

Materials And Methods: We analyzed our center's surgical experience with thymectomy for myasthenia gravis, comparing the results of patients operated on using VATS and more invasive approaches, over a period of 10 years.

Treatment of gastric varices with cyanoacrylate complicated by systemic embolization.

Acute gastric variceal bleeding is a life-threatening condition that could be effectively treated with endoscopic cyanoacrylate injection diluted with lipiodol. The mixture acts as a tissue adhesive that polymerizes when in contact with blood in a gastric varix. This work reports a patient that presented to the emergency department with upper gastrointestinal bleeding due to acute variceal bleeding, who developed systemic embolization following cyanoacrylate injection therapy.

Activated clotting time value as an independent predictor of postoperative bleeding and transfusion.

Objectives: Activated clotting time (ACT) is commonly used to monitor anticoagulation during cardiac surgeries. Final ACT values may be essential to predict postoperative bleeding and transfusions, although ideal values remain unknown. Our aim was to evaluate the utility of ACT as a predictor of postoperative bleeding and transfusion use.