ARCH: Large-scale knowledge graph via aggregated narrative codified health records analysis.

Objective: Electronic health record (EHR) systems contain a wealth of clinical data stored as both codified data and free-text narrative notes (NLP). The complexity of EHR presents challenges in feature representation, information extraction, and uncertainty quantification. To address these challenges, we proposed an efficient Aggregated naRrative Codified Health (ARCH) records analysis to generate a large-scale knowledge graph (KG) for a comprehensive set of EHR codified and narrative features.

Pacific Islands Families Study: Serum Uric Acid in Pacific Youth and the Associations with Free-Sugar Intake and Appendicular Skeletal Muscle Mass.

Background: Fructose (50% of sucrose/sugar) is one component of free-sugars and is metabolized to uric acid, which is a known risk factor for gout and metabolic syndrome. Pacific peoples in New Zealand experience a higher prevalence of gout, type 2 diabetes, and overweight/obesity than other ethnic groups. Interestingly, despite having a similar body mass index (BMI), they tend to have a higher proportion of appendicular skeletal muscle mass (ASMM) and less fat than other ethnic groups.

DOME: Directional medical embedding vectors from Electronic Health Records.

Motivation: The increasing availability of Electronic Health Record (EHR) systems has created enormous potential for translational research. Recent developments in representation learning techniques have led to effective large-scale representations of EHR concepts along with knowledge graphs that empower downstream EHR studies. However, most existing methods require training with patient-level data, limiting their abilities to expand the training with multi-institutional EHR data.

Improving Academic Promotion Success via Implementation of Targeted Preparation Strategies and Coaching Processes.

Problem: Academic promotion is important for faculty career development and retention in academic medicine. However, the promotion process is time consuming, with little guidance offered to ensure successful outcomes. The authors describe their institution's standardized approach to providing clear and reliable academic promotion support and share associated outcomes.

Blockade of LAG-3 and PD-1 leads to co-expression of cytotoxic and exhaustion gene modules in CD8 T cells to promote antitumor immunity.

Relatlimab (rela; anti-LAG-3) plus nivolumab (nivo; anti-PD-1) is safe and effective for treatment of advanced melanoma. We designed a trial (NCT03743766) where advanced melanoma patients received rela, nivo, or rela+nivo to interrogate the immunologic mechanisms of rela+nivo. Analysis of biospecimens from this ongoing trial demonstrated that rela+nivo led to enhanced capacity for CD8 T cell receptor signaling and altered CD8 T cell differentiation, leading to heightened cytotoxicity despite the retention of an exhaustion profile.

Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures.

Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. This study assessed the impact of treatment with asfotase alfa on patient-reported outcomes (PROs) in adults with pediatric-onset HPP. A longitudinal, telephone-based survey was administered to eligible individuals enrolled in a patient support program.

The Medical Writing Center Model in an Academic Teaching Hospital.

Editing services within academic health centers are uncommon, and few studies have reported on their impact. In this article, we describe our medical writing center's editing service for faculty and trainees at a pediatric teaching hospital and associated outcomes of scholarly products (e.g.

Neural dynamics of robust legged robots.

Legged robot control has improved in recent years with the rise of deep reinforcement learning, however, much of the underlying neural mechanisms remain difficult to interpret. Our aim is to leverage bio-inspired methods from computational neuroscience to better understand the neural activity of robust robot locomotion controllers. Similar to past work, we observe that terrain-based curriculum learning improves agent stability.

The impact of CREBRF rs373863828 Pacific-variant on infant body composition.

In Māori and Pacific adults, the CREBRF rs373863828 minor (A) allele is associated with increased body mass index (BMI) but reduced incidence of type-2 and gestational diabetes mellitus. In this prospective cohort study of Māori and Pacific infants, nested within a nutritional intervention trial for pregnant women with obesity and without pregestational diabetes, we investigated whether the rs373863828 A allele is associated with differences in growth and body composition from birth to 12-18 months' corrected age. Infants with and without the variant allele were compared using generalised linear models adjusted for potential confounding by gestation length, sex, ethnicity and parity, and in a secondary analysis, additionally adjusted for gestational diabetes.

The Utility of Prostate-Specific Membrane Antigen-11 PET in Detection and Management of Central Nervous System Neoplasms.

We present a case series of 5 patients diagnosed with schwannoma and 1 patient diagnosed with astrocytoma who underwent PSMA PET imaging for tumor detection. We retrospectively analyzed the records of 4 male and 2 female patients (mean age, 53.2 ± 13.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Selenophosphate synthetase (SEPHS) plays an essential role in selenium metabolism. Two mammalian SEPHS paralogues, SEPHS1 and SEPHS2, share high sequence identity and structural homology with SEPHS. Here, we report nine individuals from eight families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1.

A framework for inferring and analyzing pharmacotherapy treatment patterns.

Background: To discover pharmacotherapy prescription patterns and their statistical associations with outcomes through a clinical pathway inference framework applied to real-world data.

Methods: We apply machine learning steps in our framework using a 2006 to 2020 cohort of veterans with major depressive disorder (MDD). Outpatient antidepressant pharmacy fills, dispensed inpatient antidepressant medications, emergency department visits, self-harm, and all-cause mortality data were extracted from the Department of Veterans Affairs Corporate Data Warehouse.

A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States.

Background: Hypophosphatasia (HPP) is an inborn error of metabolism with a variable presentation. We conducted a modified Delphi panel to obtain expert consensus on knowledge gaps regarding disease severity and progression in adult patients with HPP.

Methods: Healthcare professionals (HCPs) with experience managing adult patients with HPP were recruited to participate in a 3-round Delphi panel (round 1: paper survey and 1:1 interview; rounds 2-3: email survey).

Health and Wellness Coaching for 5-Year Projected Cardiovascular Health: A Randomized Controlled Trial.

Background And Objectives: Evidence of effective multifactorial lifestyle interventions for primary stroke prevention is lacking, despite the significant contribution of lifestyle to stroke burden. We aimed to determine the efficacy of health and wellness coaching (HWC) for primary stroke and cardiovascular disease (CVD) prevention in adults at a moderate-to-high CVD risk.

Methods: This was a parallel, 2-arm, open-label, single-blinded, phase III randomized controlled trial to determine the efficacy of HWC for primary stroke prevention in individuals 30 years and older with a 5-year CVD risk ≥10% as measured by 5-year absolute CVD risk (as measured by the PREDICT tool) at 9 months post-randomization.

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Background: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene (ALPL). Often, the diagnosis of HPP is significantly delayed in both adults and children, and updated diagnostic criteria are required to keep pace with our evolving understanding regarding the relationship between ALPL genotype and associated HPP clinical features.

Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.

Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic variants in the ALPL gene, resulting in low activity of tissue nonspecific alkaline phosphatase (TNSALP). Patients with HPP tend have a similar pattern of elevation of natural substrates that can be used to aid in diagnosis.

Pacific Islands Families Study: Household Food Security during Pregnancy and Secondary School Educational Achievement.

Nutritional environment in early life is a key factor for brain development and function. It is important to understand the relationship between nutrition in early life and academic achievement in adolescence. The birth cohort of the Pacific Islands Families (PIF) study was born in the year 2000.

Metformin in Gestational Diabetes The Offspring Follow Up (MiGTOFU): Associations between maternal characteristics and size and adiposity of boys and girls at nine years.

Data from 98 women recruited in the Metformin in Gestational Diabetes trial and dual-energy X-ray absorptiometry studies of their children at nine years were analysed to investigate associations between maternal measures during pregnancy and their children's size and adiposity. Mothers of boys (n = 56) and girls (n = 42) had been randomised to metformin or insulin treatment at 30.1 ± 2.

Vegetable-enriched bread: Pilot and feasibility study of measurement of changes in skin carotenoid concentrations by reflection spectroscopy as a biomarker of vegetable intake.

Globally, bread is a staple food and thus a promising vehicle for the delivery of nutrients from vegetables including carotenoids. The aim of this pilot/feasibility, pre-post experimental study was to measure skin (Veggie Meter™) and plasma carotenoid concentrations 1 week before (week -1), immediately prior to (week 0), and after (week 2) 14 days of daily consumption of 200 g pumpkin- and sweetcorn-enriched bread (VB). At each measurement point, total vegetable and fruit intake and specific carotenoid-rich foods were assessed by questionnaire.