Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.

Predictive factors of fibrotic interstitial lung abnormality on high-resolution computed tomography scans: a prospective observational study.

Background: Fibrotic types of interstitial lung abnormalities seen on high-resolution computed tomography scans, characterised by traction bronchiolectasis/bronchiectasis with or without honeycombing, are predictors of progression and poor prognostic factors of interstitial lung abnormalities. There are no reports on the clinical characteristics of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans. Therefore, we aimed to examine these clinical characteristics and clarify the predictive factors of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans.

Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation.

Objective: This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon.

Methods: Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells).

Risk of stroke associated with proton pump inhibitor use among individuals with and without pre-existing cardiovascular diseases: a systematic review and meta-analysis.

Background: Proton pump inhibitors (PPIs) are commonly used for managing gastroesophageal disorders but concerns about their potential association with increased stroke risk have emerged, especially among patients with pre-existing cardiovascular conditions such as acute coronary syndrome (ACS). This systematic review and meta-analysis aim to assess the risk of stroke associated with PPI use, stratified by the presence or absence of pre-existing CVD.

Methods: This review was conducted following the PRISMA guidelines and included studies up to March 2024 from PubMed, Embase, and Web of Science.

Factors involved in the development of hospital-acquired conditions in older patients in acute care settings: a scoping review.

Background: Older patients hospitalized in acute care settings are at significant risk of presenting hospital-acquired conditions. Healthcare professionals should consider many factors involved in the development of such conditions, including factors related to the patients, as well as those related to the processes of care and the structure of hospitals. The aim of this study was to describe and identify the factors involved in the development of hospital-acquired conditions in older patients in acute care settings.

Association between early dietary patterns and cardiometabolic health at age 8: a confirmatory analysis of the European Childhood Obesity Project.

Background & Aim: Metabolic and cardiovascular health outcomes are strongly influenced by diet. Dietary habits established in early childhood may persist into adulthood. This study aimed to examine the association between dietary patterns at both 2 and 8 years of age, explaining the maximum variability of high- and low-quality fats, sugars, and fibre, and cardiometabolic markers at age 8 years.

Cannabis consumption and risk of asthma: a systematic review and meta-analysis.

Background: Cannabis is the third most widely used psychoactive substance globally, and its consumption has been increasing, particularly with the growing trend of legalization for medicinal and recreational use. Recent studies have raised concerns about the potential impact of cannabis on respiratory health, specifically the risk of asthma, a significant public health concern. This systematic review aimed to consolidate research on the association between cannabis use and the risk of asthma.

Vitamin D3/VDR alleviates double-stranded RNA virus -induced biliary epithelial cell damage by inhibiting autophagy.

Background: The increased apoptosis of bile duct epithelial cells (BECs) due to some damage factors is considered the initiating factor in the occurrence and progression of biliary atresia (BA). Vitamin D receptor (VDR) is thought to play a crucial role in maintaining the intrinsic immune balance and integrity of bile duct epithelial cells (BECs). To investigate the role of VDRs in the pathogenesis and progression of BA using in vitro and in vivo models.

Critical factors influencing live birth rates in fresh embryo transfer for IVF: insights from cluster ensemble algorithms.

Infertility has emerged as a significant global health concern. Assisted reproductive technology (ART) assists numerous infertile couples in conceiving, yet some experience repeated, unsuccessful cycles. This study aims to identify the pivotal clinical factors influencing the success of fresh embryo transfer of in vitro fertilization (IVF).

Relationship between age, conditioning intensity, and outcome after allografting in adults age ≥60 years with AML.

Methodological advancements now allow older adults with AML to receive allografts although conflicting data exist regarding relative outcomes across age groups and benefits of different conditioning intensities. We retrospectively analyzed 495 adults aged 60-64 (n = 184), 65-69 (n = 189), or ≥70 (n = 122) allografted for AML in remission at our institution from 2006 to 2023. There were no significant differences in relapse or relapse-free survival (RFS) among the 3 age cohorts after multivariable adjustment.

A volumetric study of the choroid plexus in neuropsychiatric systemic lupus erythematosus.

Much evidence suggests that the choroid plexus (CP) plays an important role in the pathophysiology of systemic lupus erythematosus (SLE), but its imaging profile in neuropsychiatric SLE (NPSLE) remains unexplored. To evaluate CP volume in NPSLE patients using MRI. This retrospective study evaluated patients with SLE who underwent MRI of the brain, including three-dimensional T1-weighted imaging.

Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment.

DOPA Decarboxylase (DDC) has been proposed as a cerebrospinal fluid (CSF) biomarker with increased concentrations in Lewy body disorders (LBDs) and highest levels in patients receiving dopaminergic treatment. Here we evaluate plasma DDC, measured by proximity extension assay, and the effect of dopaminergic treatment in three independent LBD (with a focus on dementia with Lewy bodies (DLB) and Parkinson's disease (PD)) cohorts: an autopsy-confirmed cohort (n = 71), a large multicenter, cross-dementia cohort (n = 1498) and a longitudinal cohort with detailed treatment information (n = 66, median follow-up time[IQR] = 4[4, 4] years). Plasma DDC was not altered between different LBDs and other disease groups or controls in absence of treatment.

Acute appendicitis and its treatment: a historical overview.

Purpose: Acute appendicitis (AA) is the leading cause of acute abdomen worldwide, with an incidence of 90-100 cases per 100,000 individuals annually and a lifetime risk of 7-12%. Despite its prevalence, historical accounts of AA are limited, particularly when compared to conditions like haemorrhoids, likely due to the appendix's internal location. This article traces the historical evolution of AA treatment from ancient times to the present, highlighting key contributions.

SMILE for correction of myopia in patients during the incipient phase of presbyopia.

Purpose: To evaluate clinical outcomes and visual quality 12 months after small incision lenticule extraction (SMILE) for correction of myopia with or without astigmatism in patients during the incipient phase of presbyopia.

Setting: Peking University Third Hospital, Beijing, China.

Design: Retrospective observation study.

Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.

Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.

Intradermal Advanced Glycation End-products Relate to Reduced Sciatic Nerve Structural Integrity in Type 2 Diabetes.

Background: Cardiovascular risk management is beneficial, but stringent glycemic control does not prevent the progression of distal sensorimotor polyneuropathy (DSPN). Persistent hyperglycemia-induced alterations and cardiovascular factors may contribute to diabetes-associated nerve damage. This study aimed to evaluate the correlation between skin auto-fluorescence (sAF), an indicator of dermal advanced glycation end-product (AGE) accumulations, cardiovascular risk, and changes in peripheral nerve integrity.

The effect of pregnancy vitamin D supplementation on maternal blood pressure: real-world data analysis within the MAVIDOS randomised placebo-controlled trial.

Purpose: Observational studies have suggested negative associations between maternal 25-hydroxyvitamin D (25(OH)D) status and risk of hypertensive disorders of pregnancy [pregnancy-induced hypertension (PIH) and preeclampsia (PET)]. Data from intervention studies are limited. We hypothesised that vitamin D supplementation would lower maternal blood pressure (BP) during pregnancy and reduce the incidence of hypertensive disorders of pregnancy.

[Treatment of ankle osteoarthritis : Analysis of a German nationwide survey].

Background: In most cases osteoarthritis of the ankle is of posttraumatic origin. Younger people are more frequently affected, which makes treatment a particular challenge. In addition to conservative treatment numerous surgical procedures are available for the treatment of advanced arthrosis.

Sucrose-preferring gut microbes prevent host obesity by producing exopolysaccharides.

Commensal bacteria affect host health by producing various metabolites from dietary carbohydrates via bacterial glycometabolism; however, the underlying mechanism of action remains unclear. Here, we identified Streptococcus salivarius as a unique anti-obesity commensal bacterium. We found that S.

Single cell profiling of circulating autoreactive CD4 T cells from patients with autoimmune liver diseases suggests tissue imprinting.

Autoimmune liver diseases (AILD) involve dysregulated CD4 T cell responses against liver self-antigens, but how these autoreactive T cells relate to liver tissue pathology remains unclear. Here we perform single-cell transcriptomic and T cell receptor analyses of circulating, self-antigen-specific CD4 T cells from patients with AILD and identify a subset of liver-autoreactive CD4 T cells with a distinct B-helper transcriptional profile characterized by PD-1, TIGIT and HLA-DR expression. These cells share clonal relationships with expanded intrahepatic T cells and exhibit transcriptional signatures overlapping with tissue-resident T cells in chronically inflamed environments.

Impact of pulmonary artery catheterization in patients with acute myocardial infarction cardiogenic shock.

Acute myocardial infarction (AMI) remains one of the most common causes for cardiogenic shock (CS), with high inpatient mortality (40-50 %). Studies have reported the use of pulmonary artery catheters (PACs) in decompensated heart failure, but contemporary data on their use to guide management of AMI-CS and in different SCAI stages of CS are lacking. We investigated the association of PACs and clinical outcomes in AMI-CS.

Aptamer-Antibody Birecognized Sandwich SERRS Biosensor in Accurate and Rapid Identification of Intraoperative Parathyroid Hormone.

With the increasing incidence of thyroid cancer worldwide and the increasing demand for surgery, the risk of parathyroid injury is also increasing, which will lead to postoperative hypoparathyroidism (HP) and hypocalcemia. In order to improve the quality of life of patients after surgery, there is an urgent need to develop a novel platform that can identify the parathyroid gland immediately during surgery. The parathyroid gland promotes the increase of blood calcium concentration by secreting parathyroid hormone (PTH).

Posterior fossa ring-enhancing lesions in the adult immunocompetent host: illustrative cases, systematic review, and proposed diagnostic algorithm.

Purpose: Posterior fossa ring-enhancing lesions (PFREL) in the adult immunocompetent hosts pose a diagnostic challenge. We aimed to evaluate the spectrum of PFREL etiologies and propose a diagnostic algorithm.

Methods: This study involved a retrospective analysis of PFREL cases from our institution (January 2023 to April 2024) and a systematic literature review conducted using Embase and PubMed databases following the PRISMA 2020 guidelines.

[Severe eosinophilic granulomatosis with polyangiitis-related peripheral neuropathy after the cessation of mepolizumab. A case report].

A 78-years-old man was treated for asthma and pansinusitis for >5 years, and mepolizumab was initiated two years previously. Two months after the cessation of mepolizumab treatment, the asthma symptoms worsened and acute progressive muscle weakness and sensory disturbance developed. On day 8 after the onset of weakness and hypoesthesia, the patient presented with complete flaccid tetraplegia and diffuse hypoesthesia of all extremities, without paresthesia or pain, and was admitted to our hospital.

Analytical and Clinical Validation of the Plasma-Based Guardant360 CDx Test for Assessing HER2 (ERBB2) Mutation Status in Patients with Non-Small-Cell Lung Cancer for Treatment with Trastuzumab Deruxtecan in DESTINY-Lung01/02.

This study demonstrates the analytical and clinical validity of the approved (United States and Japan) plasma-based Guardant360 companion diagnostic (CDx) test for selecting patients with human epidermal growth factor receptor 2 (HER2 [ERBB2])-mutated (HER2m) non-small-cell lung cancer (NSCLC) for trastuzumab deruxtecan (T-DXd) treatment. Concordance between the Guardant360 CDx test and the plasma-based AVENIO ctDNA Expanded Kit Assay (AVENIO), as well as the tissue-based clinical trial assays (CTAs) was investigated. Clinical utility was assessed by comparing T-DXd clinical efficacy results of patients in DESTINY-Lung01/02 who tested positive for HER2 mutations using the Guardant360 CDx test to benchmark efficacy results from DESTINY-Lung01/02.