Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score.

Gaucher disease (GD) is a rare genetic disorder with multi-system involvement. Liver fibrosis is a long-term complication of GD, potentially leading to cirrhosis, end-stage liver disease, and hepatocellular carcinoma. There are currently no validated clinical tools for the monitoring of liver fibrosis in patients with GD.

Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.

Background: Newborn screening (NBS) is a simple, non-invasive test that allows for the early identification of genetic diseases within the first days of a newborn's life. The aim of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible, before the onset of disease symptoms. Early diagnosis enables timely treatments and improves the quality of life for affected patients.

Change in fatigue in patients with ulcerative colitis or Crohn's disease initiating biologic therapy.

Background: Fatigue is common among patients with inflammatory bowel diseases (IBDs) and is associated with decreased quality of life (QoL).

Aims: Describe fatigue evolution and identify factors associated with fatigue outcomes in patients with ulcerative colitis (UC) or Crohn's disease (CD) initiating biologic treatment.

Methods: Data from adult Belgian patients with UC or CD enrolled in a prospective real-world study were utilized.

Performance evaluation of a machine learning-based methodology using dynamical features to detect nonwear intervals in actigraphy data in a free-living setting.

Goal And Aims: One challenge using wearable sensors is nonwear time. Without a nonwear (e.g.

Muscle Rehabilitation Techniques and Prevention of Injury.

Rehabilitation following muscle injury is critical in restoring the equine athlete to full function. Rehabilitation protocols should be tailored to each patient's global functional assessment, taking into account sports-specific demands, goals for return-to-performance, and overall prognosis. Rehabilitation protocols are often designed to modulate pain, enhance repair, improve proprioception, increase flexibility, restore muscle strength, joint range-of-motion, and neuromotor control.

Deep learning model to identify and validate hypotension endotypes in surgical and critically ill patients.

Background: Hypotension is associated with organ injury and death in surgical and critically ill patients. In clinical practice, treating hypotension remains challenging because it can be caused by various underlying haemodynamic alterations. We aimed to identify and independently validate endotypes of hypotension in big datasets of surgical and critically ill patients using unsupervised deep learning.

Impact of diabetes mellitus on coronary artery plaque characteristics and outcomes in the SCOT-HEART trial.

Background: Diabetes mellitus is an established cardiovascular risk factor. We assessed the impact of diabetes mellitus on quantitative plaque and long-term outcomes in patients with and without diabetes mellitus in the Scottish COmputed Tomography of the HEART (SCOT-HEART) trial.

Methods: Coronary artery calcium (CAC) was assessed on non-contrast computed tomography (CT).

Solutions to expand microbiome sciences in the Caribbean Region: an insider's perspective.

The Caribbean harbors diverse genetic resources, yet microbiome research in the region remains poorly characterized. Addressing infrastructure and training challenges through collaborations and capacity building is vital. This article reflects on the obstacles facing microbiome research in the region and proposes solutions to ensure equitable participation in the global microbial research ecosystem.

Insights into phosphatidic acid phosphatase and its potential role as a therapeutic target.

Phosphatidic acid phosphatase, a conserved eukaryotic enzyme that catalyzes the Mg-dependent dephosphorylation of phosphatidic acid to produce diacylglycerol, has emerged as a vital regulator of lipid homeostasis. By controlling the balance of phosphatidic acid and diacylglycerol, the enzyme governs the use of the lipids for synthesis of the storage lipid triacylglycerol and the membrane phospholipids needed for cell growth. The mutational, biochemical, and cellular analyses of yeast phosphatidic acid phosphatase have provided insights into the structural determinants of enzyme function with the understanding of its regulation by phosphorylation and dephosphorylation.

Sex hormone-dependent host-microbiome interactions and cardiovascular risk (XCVD): design of a longitudinal multi-omics cohort study.

Introduction: Cardiovascular diseases (CVDs) present differently in women and men, influenced by host-microbiome interactions. The roles of sex hormones in CVD outcomes and gut microbiome in modifying these effects are poorly understood. The XCVD study examines gut microbiome mediation of sex hormone effects on CVD risk markers by observing transgender participants undergoing gender-affirming hormone therapy (GAHT), with findings expected to extrapolate to cisgender populations.

Impact of corticosteroids on improving lung compliance in a patient with pulmonary microscopic polyangiitis.

Microscopic polyangiitis (MPA) is a small-vessel vasculitis characterised by systemic infiltration, with a primary focus on the renal and pulmonary systems. One of its more lethal pulmonary manifestations is diffuse alveolar haemorrhage (DAH), although the spectrum of lung pathology in MPA is vast and calls for immediate immunosuppressive therapy. Our case looks at an older woman initially presenting with MPA-induced rapid progressive glomerulonephritis.

Advanced-stage duodenal cancer in pregnancy.

This is a case report of a pregnant patient diagnosed with advanced-stage duodenal cancer in the second trimester. To the author's knowledge, there are no studies that describe the management of advanced duodenal cancer during pregnancy and this case highlights the importance of creating a multidisciplinary team and incorporating shared decision-making when discussing diagnostic workup and treatment options, including the use of cytotoxic therapy during pregnancy, with patients. This study will also discuss maternal and fetal outcomes after the administration of FOLFOX (leucovorin, fluorouracil and oxaliplatin) chemotherapy during the second trimester.

The uv1 neuroendocrine cells provide mechanosensory feedback of vulval opening.

Neuroendocrine cells react to physical, chemical, and synaptic signals originating from tissues and the nervous system, releasing hormones that regulate various body functions beyond the synapse. Neuroendocrine cells are often embedded in complex tissues making direct tests of their activation mechanisms and signaling effects difficult to study. In the nematode worm , four uterine-vulval (uv1) neuroendocrine cells sit above the vulval canal next to the egg-laying circuit, releasing tyramine and neuropeptides that feedback to inhibit egg laying.

Deciphering compromised speech-in-noise intelligibility in older listeners: the role of cochlear synaptopathy.

Speech intelligibility declines with age and sensorineural hearing damage (SNHL). However, it remains unclear whether cochlear synaptopathy (CS), a recently discovered form of SNHL, significantly contributes to this issue. CS refers to damaged auditory-nerve synapses that innervate the inner hair cells and there is currently no go-to diagnostic test available.

Heterogeneity in category recognition across the visual field.

Visual information emerging from the extrafoveal locations is important for visual search, saccadic eye movement control, and spatial attention allocation. Our everyday sensory experience with visual object categories varies across different parts of the visual field which may result in location-contingent variations in visual object recognition. We used a body, animal body, and chair two-forced choice object category recognition task to investigate this possibility.

FAST: Fast, free, consistent, and unsupervised oligodendrocyte segmentation and tracking system.

To develop reparative therapies for neurological disorders like multiple sclerosis (MS), we need to better understand the physiology of loss and replacement of oligodendrocytes, the cells that make myelin and are the target of damage in MS. In vivo two-photon fluorescence microscopy allows direct visualization of oligodendrocytes in the intact brain of transgenic mouse models, promising a deeper understanding of the longitudinal dynamics of replacing oligodendrocytes after damage. However, the task of tracking the fate of individual oligodendrocytes requires extensive effort for manual annotation and is especially challenging in three-dimensional images.

LGR5 as a diagnostic marker for dysplasia in serrated polyps.

Aims: WNT signalling pathway dysregulation is often a critical early component in colorectal neoplasia, particularly the chromosomal instability pathway. Using two WNT reporters, and , we sought to assess whether these polyps demonstrate predictable expression patterns and if these patterns show diagnostic value.

Methods: We evaluated 23 adenomas (TA), 23 sessile serrated lesions (SSLs), 14 SSL with dysplasia and 38 traditional serrated adenomas (TSA).

Progress towards the elimination of trachoma as a public health problem in four counties of Eastern Equatoria State, Republic of South Sudan.

Background: Trachoma is targeted by the World Health Organization (WHO) for elimination as a public health problem by 2030. Trachoma impact surveys using standardised methodology are recommended to monitor progress towards elimination and to determine eligibility for continued surgery, antibiotics, facial cleanliness, and environmental improvement (SAFE) interventions. From 2007 to 2015, four counties of Eastern Equatoria State, South Sudan, received three to five rounds of mass drug administration with antibiotics.

In vitro evolution of ciprofloxacin resistance in Neisseria commensals and derived mutation population dynamics in natural Neisseria populations.

Commensal Neisseria are members of a healthy human oropharyngeal microbiome; however, they also serve as a reservoir of antimicrobial resistance for their pathogenic relatives. Despite their known importance as sources of novel genetic variation for pathogens, we still do not understand the full suite of resistance mutations commensal species can harbor. Here, we use in vitro selection to assess the mutations that emerge in response to ciprofloxacin selection in commensal Neisseria by passaging 4 replicates of 4 different species in the presence of a selective antibiotic gradient for 20 days; then categorized derived mutations with whole genome sequencing.

Identifying the most effective acute stress induction methods for producing SAM- and HPA-related physiological responses: a meta-analysis.

Background And Objectives: Laboratory-based stress inductions are commonly used to elicit acute stress but vary widely in their procedures and effectiveness. We compared the effects of stress induction techniques on measures of two major biological stress systems: the early sympathetic-adrenal-medullary (SAM) and the delayed hypothalamic-pituitary-adrenal (HPA) axis response.

Design: A review and meta-analysis to examine the relationship between stress induction techniques on cardiorespiratory and salivary measures of SAM and HPA system activity.

Impact of Older Adults' Internet Use on Economic Burden of Informal Caregiving.

This study examines the impact of older adults' Internet use on care hours and its influence on estimating national cost savings with active and potential Internet users. Using data from the 2015 National Health and Aging Trends Study ( = 1,806), we employed a survey weighted two-part model with gamma distribution. The cost savings were estimated by a replacement approach.

Clinical efficacy of OS-01 peptide formulation in reducing the signs of periorbital skin aging.

Background: The aging of the skin, particularly around the periorbital region, is a complex process characterized by the accumulation of senescent cells, decreased collagen production, and reduced skin elasticity, leading to visible signs such as fine lines, wrinkles, and sagging.

Objective: This study investigates the efficacy of a novel topical formulation, OS-01 EYE, containing the senomorphic peptide, OS-01, along with other active ingredients, in improving the skin around the eyes.

Methods: A 12-week clinical study was conducted with 22 participants who applied OS-01 EYE twice daily.