Glaucoma detection and staging from visual field images using machine learning techniques.

Purpose: In this study, we investigated the performance of deep learning (DL) models to differentiate between normal and glaucomatous visual fields (VFs) and classify glaucoma from early to the advanced stage to observe if the DL model can stage glaucoma as Mills criteria using only the pattern deviation (PD) plots. The DL model results were compared with a machine learning (ML) classifier trained on conventional VF parameters.

Methods: A total of 265 PD plots and 265 numerical datasets of Humphrey 24-2 VF images were collected from 119 normal and 146 glaucomatous eyes to train the DL models to classify the images into four groups: normal, early glaucoma, moderate glaucoma, and advanced glaucoma.

Intermediate-dose immune tolerance induction outperforms with faster success, less bleeding, and no added cost in comparison with low dose: a multicenter randomized clinical trial.

Background: Low-dose (LD) or intermediate-dose (MD) immune tolerance induction (ITI) is effective in children with severe hemophilia A (SHA) with high-titer inhibitors (HTIs) and is attractive in countries with economic constraints. However, high-quality evidence of their use is lacking.

Objectives: This was a multicenter randomized clinical trial comparing the efficacy, safety, and medication cost between LD-ITI and MD-ITI for SHA-HTI children.

Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.

Hemophilia A (HA) is an X-chromosome-linked recessive genetic disorder. Female carriers may have bleeding symptoms, but rarely have moderate or severe disease. We identified a female patient with moderate HA by pedigree tracking and genetic testing in a HA family involving consanguineous marriage.

Real-world use of emicizumab in Chinese children with hemophilia A: Retrospective data from a comprehensive care center.

Importance: Emicizumab (EMI) is efficacious and safe for hemophilia A (HA) prophylaxis. However, its high cost poses a challenge in China.

Objective: To explore the possibility of using reduced-dosage EMI in Chinese HA children.

The history of women and hemophilia: a narrative review of evolving beliefs and testing practices.

The history of hemophilia is well documented, yet reports focus heavily on the male perspective and severe forms of the disease. Although hemophilia was initially believed to only affect men with women seen as silent carriers, it is now universally acknowledged that women and girls can also be affected. In this narrative review, we tracked the progression of beliefs about women and hemophilia as documented in the literature from pre-1800s to the present time.

Synthetic promoter design in based on multinomial diffusion model.

Generative design of promoters has enhanced the efficiency of creation of functional sequences. Though several deep generative models have been employed in biological sequence generation, including variational autoencoder (VAE) or Wasserstein generative adversarial network (WGAN), these models might struggle with mode collapse and low sample diversity. In this study, we introduce the multinomial diffusion model (MDM) for promoter sequence design and propose a structured set of criteria for effectively comparing the performance of generative models.

Hypoxic postconditioning modulates neuroprotective glial reactivity in a 3D cortical ischemic-hypoxic injury model.

Stroke remains one of the major health challenges due to its high rates of mortality and long-term disability, necessitating the development of effective therapeutic treatment. This study aims to explore the neuroprotective effects of hypoxic postconditioning (HPC) using a cell-based 3D cortical ischemic-hypoxic injury model. Our model employs murine cells to investigate HPC-induced modulation of glial cell reactivity and intercommunication post-oxygen-glucose deprivation-reoxygenation (OGD-R) injury.

Pregnancy loss in individuals with von Willebrand disease and unspecified mucocutaneous bleeding disorders: a multicenter cohort study.

Background: While bleeding around pregnancy is well described in von Willebrand disease (VWD), the risk of pregnancy loss is less certain.

Objectives: We aimed to describe the frequency of pregnancy loss in females with VWD compared with those with a similar mucocutaneous bleeding phenotype and no VWD or compared with nonbleeding disorder controls.

Methods: Female patients were consecutively approached in 8 specialty bleeding disorder clinics between 2014 and 2023.

Personalized dose selection for the first Waldenström macroglobulinemia patient on the PRECISE CURATE.AI trial.

The digital revolution in healthcare, amplified by the COVID-19 pandemic and artificial intelligence (AI) advances, has led to a surge in the development of digital technologies. However, integrating digital health solutions, especially AI-based ones, in rare diseases like Waldenström macroglobulinemia (WM) remains challenging due to limited data, among other factors. CURATE.

Acute Kidney Injury in Relation to Nephrotoxic Medication Use Among Critically Ill Children in the Paediatric Intensive Care Unit.

Critically ill children are vulnerable to acute kidney injury (AKI) and are often exposed to nephrotoxic medications. We aimed to investigate the association between nephrotoxic medications and the risk of AKI in critically ill children admitted to our paediatric intensive care unit (PICU). Patients aged > 1 month to ≤18 years old were prospectively recruited from 6/2020 to 6/2021.

Targeting the muscarinic M1 receptor with a selective, brain-penetrant antagonist to promote remyelination in multiple sclerosis.

Multiple sclerosis (MS) is a chronic and debilitating neurological disease that results in inflammatory demyelination. While endogenous remyelination helps to recover function, this restorative process tends to become less efficient over time. Currently, intense efforts aimed at the mechanisms that promote remyelination are being considered promising therapeutic approaches.

Low-dose immune tolerance induction for severe hemophilia A inhibitor patients: Immunosuppressants are generally not necessary for inhibitor-titer below 200 BU/mL.

Importance: It remained unclear that the efficacy comparison between low-dose immune tolerance induction (LD-ITI) incorporating immunosuppressants (IS) when severe hemophilia A (SHA) patients had inhibitor-titer ≥200 Bethesda Units (BU)/mL (LD-ITI-IS regimen) and LD-ITI combining with IS when SHA patients had inhibitor-titer ≥40 BU/mL (LD-ITI-IS regimen).

Objective: To compare the efficacy of the LD-ITI-IS regimen with that of the LD-ITI-IS regimen for SHA patients with high-titer inhibitors.

Methods: A prospective cohort study on patients receiving LD-ITI-IS compared to those receiving LD-ITI-IS from January 2021 to December 2023.

Reduced doses of emicizumab achieve good efficacy: Results from a national-wide multicentre real-world study in China.

Introduction: Reduced doses of emicizumab improve the affordability among patients in developing countries. However, the relationship between variant dose selection and efficacy in the real world of China is still unclear.

Aim: This study aimed to investigate the efficacy and safety of emicizumab especially in those on reduced dose regimens in a real-world setting.

Chinese university students' help-seeking behaviors when faced with mental health challenges.

Background: Mental illnesses and mental health challenges have become increasingly pervasive among Chinese university students. However, the utilization rate of mental health services is low among students.

Aims: We aimed to explore Chinese university students' help-seeking behaviors to understand how they deal with mental health challenges and use the results to inform the development of effective mental health promotion initiatives.

Discovery of a brain penetrant small molecule antagonist targeting LPA1 receptors to reduce neuroinflammation and promote remyelination in multiple sclerosis.

Multiple sclerosis (MS) is a chronic neurological disease characterized by inflammatory demyelination that disrupts neuronal transmission resulting in neurodegeneration progressive disability. While current treatments focus on immunosuppression to limit inflammation and further myelin loss, no approved therapies effectively promote remyelination to mitigate the progressive disability associated with chronic demyelination. Lysophosphatidic acid (LPA) is a pro-inflammatory lipid that is upregulated in MS patient plasma and cerebrospinal fluid (CSF).

Identification and In Vivo Evaluation of Myelination Agent PIPE-3297, a Selective Kappa Opioid Receptor Agonist Devoid of β-Arrestin-2 Recruitment Efficacy.

Structure-activity relationship studies led to the discovery of PIPE-3297, a fully efficacious and selective kappa opioid receptor (KOR) agonist. PIPE-3297, a potent activator of G-protein signaling (GTPγS EC = 1.1 nM, 91% ), did not elicit a β-arrestin-2 recruitment functional response ( < 10%).

Cardiovascular events and venous thromboembolism after primary malignant or non-malignant brain tumour diagnosis: a population matched cohort study in Wales (United Kingdom).

Background: Elevated standardised mortality ratio of cardiovascular diseases (CVD) in patients with brain tumours may result from differences in the CVD incidences and cardiovascular risk factors. We compared the risk of CVD among patients with a primary malignant or non-malignant brain tumour to a matched general population cohort, accounting for other co-morbidities.

Methods: Using data from the Secured Anonymised Information Linkage (SAIL) Databank in Wales (United Kingdom), we identified all adults aged ≥ 18 years in the primary care database with first diagnosis of malignant or non-malignant brain tumour identified in the cancer registry in 2000-2014 and a matched cohort (case-to-control ratio 1:5) by age, sex and primary care provider from the general population without any cancer diagnosis.