SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics.

encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic variants on brain development and network integrity remain elusive.

Uncovering Important Diagnostic Features for Alzheimer's, Parkinson's and Other Dementias Using Interpretable Association Mining Methods.

Alzheimer's Disease and Related Dementias (ADRD) afflict almost 7 million people in the USA alone. The majority of research in ADRD is conducted using post-mortem samples of brain tissue or carefully recruited clinical trial patients. While these resources are excellent, they suffer from lack of sex/gender, and racial/ethnic inclusiveness.

Sodium-Glucose Cotransporter 2 Inhibitors for the Primary Prevention of Glaucoma in Patients With Type 2 Diabetes: A Target Trial Emulation.

Purpose: Pleiotropic cardiovascular benefits of sodium-glucose cotransporter 2 inhibitors (SGLT2i) due to vascular remodeling effects have been demonstrated in patients with type 2 diabetes mellitus. It is unclear whether a similar benefit may be seen for glaucoma. The purpose of this study was to assess the effect of SGLT2i on the risk of glaucoma in patients with type 2 diabetes.

Identifying priorities for future research on reducing and stopping psychiatric medication: results of a James Lind Alliance priority-setting partnership.

Objective: The objective of this study is to identify the top 10 research priorities on reducing and stopping psychiatric medication that reflect the perspectives and unmet needs of three key stakeholder groups (people with lived experience, family members/carers/supporters and healthcare professionals).

Methods: A priority-setting partnership was conducted using the James Lind Alliance's seven-step process. This involved (1) creating an international Steering Group of key stakeholder representatives and (2) identifying potential partners; (3) gathering stakeholders' uncertainties about reducing and stopping psychiatric medication using an online survey and summarising the survey responses; (4) checking the summary questions against existing evidence and verifying uncertainties; (5) shortlisting the questions using a second online survey; (6) determining the top 10 research questions through a prioritisation workshop; and (7) disseminating the results.

Variation in organisational factors across high- and low-performing hospitals with regard to spontaneous vaginal birth for Black women in four states: a cross-sectional descriptive study.

Objective: To describe variation in hospital organisational factors across high- and low-performing hospitals with regard to spontaneous vaginal birth (SVB) for Black women.

Design: Cross-sectional descriptive.

Setting: We conducted a cross-sectional study using three datasets in four states from 2016, including the American Hospital Association Annual Survey, administrative discharge abstracts and a survey in which nurses served as informants about the organisational factors in their hospitals.

Comparing Traditional and Newer Glaucoma Procedures by Physician Experience and Practice Location in the United States.

Prcis: Analysis of CMS Physician Payment data found that physician certification year, degree of urbanization, and estimated income by zip code were significant in predicting the proportion of traditional glaucoma procedures performed by each provider in the United States.

Purpose: The prevalence of microinvasive glaucoma surgery (MIGS) compared to traditional procedures has been increasing in glaucoma management. It is important to understand whether the uptake of new glaucoma procedures is associated with aspects of the physician practice.

Ocular Imaging Challenges, Current State, and a Path to Interoperability: A HIMSS-SIIM Enterprise Imaging Community Whitepaper.

Office-based testing, enhanced by advances in imaging technology, is routinely used in eye care to non-invasively assess ocular structure and function. This type of imaging coupled with autonomous artificial intelligence holds immense opportunity to diagnose eye diseases quickly. Despite the wide availability and use of ocular imaging, there are several factors that hinder optimization of clinical practice and patient care.

Risk of locoregional recurrence after breast cancer surgery by molecular subtype-a systematic review and network meta-analysis.

Background: The prevention of locoregional recurrence (LRR) is crucial in breast cancer, as it translates directly into reduced breast cancer-related death. Breast cancer is subclassified into distinct intrinsic biological subtypes with varying clinical outcomes.

Aims: To perform a systematic review and network meta-analysis (NMA) to determine the rate of LRR by breast cancer molecular subtype.

Generation of humanized mouse models to support therapeutic development for SYNGAP1 and STXBP1 disorders.

Heterozygous variants in and lead to distinct neurodevelopmental disorders caused by haploinsufficient levels of post-synaptic SYNGAP1 and pre-synaptic STXBP1, which are critical for normal synaptic function. While several gene-targeted therapeutic approaches have proven efficacious , these often target regions of the human gene that are not conserved in rodents, hindering the pre-clinical development of these compounds and their transition to the clinic. To overcome this limitation, here we generate and characterize and humanized mouse models in which we replaced the mouse and gene, respectively, with the human counterpart, including regulatory and non-coding regions.

Gap Analysis of Glaucoma Examination Concept Representations within Standard Systemized Nomenclature of Medicine - Clinical Terms.

Objective/purpose: Standardization of eye care data is important for clinical interoperability and research. We aimed to address gaps in the representations of glaucoma examination concepts within Systemized Nomenclature of Medicine - Clinical Terms (SNOMED-CT), the preferred terminology of the American Academy of Ophthalmology.

Design: Study of data elements.

Correction: Publicly available data reveals association between asthma hospitalizations and unconventional natural gas development in Pennsylvania.

[This corrects the article DOI: 10.1371/journal.pone.

Impact of Demographics on Regional Visual Field Loss and Deterioration in Glaucoma.

Purpose: To elucidate the impact of demographics, including gender, race, ethnicity, and preferred language, on regional visual field (VF) loss and progression in glaucoma.

Methods: Multivariable linear mixed regressions were performed to determine the impact of race, ethnicity, and preferred language on regional VF loss with adjustment for age and gender. Regional VF loss was defined by pointwise total deviation values and VF loss patterns quantified by an unsupervised machine learning method termed archetypal analysis.

Transformer-Based Deep Learning Prediction of 10-Degree Humphrey Visual Field Tests From 24-Degree Data.

Purpose: To predict 10-2 Humphrey visual fields (VFs) from 24-2 VFs and associated non-total deviation features using deep learning.

Methods: We included 5189 reliable 24-2 and 10-2 VF pairs from 2236 patients, and 28,409 reliable pairs of macular OCT scans and 24-2 VF from 19,527 eyes of 11,560 patients. We developed a transformer-based deep learning model using 52 total deviation values and nine VF test features to predict 68 10-2 total deviation values.

Identifying Factors Associated With Fast Visual Field Progression in Patients With Ocular Hypertension Based on Unsupervised Machine Learning.

Prcis: We developed unsupervised machine learning models to identify different subtypes of patients with ocular hypertension in terms of visual field (VF) progression and discovered 4 subtypes with different trends of VF worsening. We then identified factors associated with fast VF progression.

Purpose: To identify ocular hypertension (OHT) subtypes with different trends of visual field (VF) progression based on unsupervised machine learning and to discover factors associated with fast VF progression.

Protein Nutrition: Understanding Structure, Digestibility, and Bioavailability for Optimal Health.

This review discusses different protein sources and their role in human nutrition, focusing on their structure, digestibility, and bioavailability. Plant-based proteins, such as those found in legumes, nuts, and seeds, may contain anti-nutritional factors that impact their bioavailability apart from structural and compositional differences from animal proteins. Animal proteins are generally highly digestible and nutritionally superior to plant proteins, with higher amino acid bioavailability.

Modern management of the axilla.

Surgical management of the axilla has evolved considerably in recent years, with a strong focus on de-escalation to minimise morbidity whilst maintaining oncological outcomes. Current trials will focus on the omission of Sentinel node biopsy in select groups of patients, while axillary lymph node dissection will be reserved for those with more aggressive disease.