Combined telemedicine-first and direct primary care as a promising model of healthcare delivery.

Telemedicine is comparable in quality to in-person care, adequate for many primary care concerns, acceptable to patients, and can overcome barriers to care. However, patients are reluctant to pay the same for telemedicine as in-person care and uncertainty about future payor reimbursement makes it risky to base a clinical practice primarily on telemedicine. Physical exam-supported information collection and relationship-building are limited in telemedicine, but can be mitigated through remote patient monitoring and ample access to a provider and clinical team.

Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases.

Importance: The association of race and detection of pathogenic variants using wide-panel genetic testing for inherited retinal diseases (IRD), to our knowledge, has not been studied previously.

Objective: To investigate the genetic detection rates of wide-panel testing in Black and non-Hispanic White patients with IRDs.

Design, Setting, Participants: This 2-group comparison used retrospective patient data that were collected at the University of Michigan (UM) and Blueprint Genetics (BG).

Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.

A hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Human brain imaging and experimental studies indicate early changes in brain structure and connectivity in C9-ALS/FTD, even before symptom onset. Because these early disease phenotypes remain incompletely understood, we generated iPSC-derived cerebral organoid models from C9-ALS/FTD patients, presymptomatic C9ORF72-HRE (C9-HRE) carriers, and controls.

ATAXIN-2 intermediate-length polyglutamine expansions elicit ALS-associated metabolic and immune phenotypes.

Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, whether this triggers ALS pathogenesis at the cellular and functional level remains unknown.

Automated Segmentation of Autofluorescence Lesions in Stargardt Disease.

Objective: To train a deep learning (DL) algorithm to perform fully automated semantic segmentation of multiple autofluorescence lesion types in Stargardt disease.

Design: Cross-sectional study with retrospective imaging data.

Subjects: The study included 193 images from 193 eyes of 97 patients with Stargardt disease.

Diagnoses per Encounter by Telephone, Televideo, and In-Office Visits.

Introduction: We sought to determine if there are differences between number of International Classification of Disease-10 (ICD-10) codes per visit before and after COVID-19 when comparing in-office visits and between telemedicine vs in-office visits, toward the goal of determining value of telemedicine visits relative to in-office visits.

Methods: We did a chart review study assessing the number of ICD-10 codes noted by providers at a large academic medical institution in 2019 and 2020. Only in-office visits were reviewed in 2019.

Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis.

Purpose: To investigate real-world safety and efficacy of voretigene neparvovec gene therapy administration in pediatric patients with biallelic RPE65 disease-causing variants.

Methods: A retrospective study of 27 eyes of 14 patients with RPE65-associated Leber congenital amaurosis examined postoperative complications and longitudinal changes in photoreceptor function following treatment with subretinal injection of voretigene neparvovec. Full-field stimulus threshold testing (FST), Goldmann visual fields (GVF), best-corrected visual acuity (BCVA), and central subfield thickness (CST) on optical coherence tomography (OCT) scans were collected preoperatively and up to 12 months posttreatment.

X-ray absorption spectroscopy and actinide electrochemistry: a setup dedicated to radioactive samples applied to neptunium chemistry.

A spectroelectrochemical setup has been developed to investigate radioactive elements in small volumes (0.7 to 2 ml) under oxidation-reduction (redox) controlled conditions by X-ray absorption spectroscopy (XAS). The cell design is presented together with in situ XAS measurements performed during neptunium redox reactions.

Using Artificial Intelligence With Natural Language Processing to Combine Electronic Health Record's Structured and Free Text Data to Identify Nonvalvular Atrial Fibrillation to Decrease Strokes and Death: Evaluation and Case-Control Study.

Background: Nonvalvular atrial fibrillation (NVAF) affects almost 6 million Americans and is a major contributor to stroke but is significantly undiagnosed and undertreated despite explicit guidelines for oral anticoagulation.

Objective: The aim of this study is to investigate whether the use of semisupervised natural language processing (NLP) of electronic health record's (EHR) free-text information combined with structured EHR data improves NVAF discovery and treatment and perhaps offers a method to prevent thousands of deaths and save billions of dollars.

Methods: We abstracted 96,681 participants from the University of Buffalo faculty practice's EHR.

Disturbed retinoid metabolism upon loss of impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina.

The gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy, retinitis pigmentosa, retinitis punctata albescens, fundus albipunctatus, and Newfoundland rod-cone dystrophy. However, the etiology of these retinal disorders is not well understood.

Association of No-Cost Genetic Testing Program Implementation and Patient Characteristics With Access to Genetic Testing for Inherited Retinal Degenerations.

Importance: The benefits of no-cost genetic testing initiatives have not been characterized. The no-cost My Retina Tracker Genetic Testing Study (MRT-GTS) research registry for inherited retinal degenerations (IRDs) was launched in 2017 in the US.

Objective: To investigate the associations of MRT-GTS implementation and patient characteristics with access to genetic testing for IRDs.

What's Happening in Your Head: Overcoming Our Assumptions to Work Better Together.

Introduction: It is crucial that residents learn in environments that are psychologically safe and free of morale-harming rumors. This workshop introduced the Ladder of Inference as a means for programs to foster psychological safety, mitigate against rumors, and increase trust.

Methods: Residents and faculty of two residency programs (cohorts A and B) were introduced to the Ladder of Inference.

Genetic testing for inherited retinal degenerations: Triumphs and tribulations.

Inherited retinal degenerations (IRDs) are a genotypically and phenotypically diverse group of conditions. Great strides have been made toward identifying the genetic basis for these conditions over the last 30 years-more than 270 different genes involved in syndromic and nonsyndromic forms of retinal dystrophies have now been identified. The identification of these genes and the improvement of clinical laboratory techniques have led to the identification of the genetic basis of disease in 56-76% of patients with IRDs through next generation sequencing and copy number variant analysis.

Electrochemical and Spectroscopic Study of Eu and Eu Coordination in the 1-Ethyl-3-methylimidazolium Bis(trifluoromethylsulfonyl)imide Ionic Liquid.

Separation processes based on room temperature ionic liquids (RTIL) and electrochemical refining are promising strategies for the recovery of lanthanides from primary ores and electronic waste. However, they require the speciation of dissolved elements to be known with accuracy. In the present study, Eu coordination and Eu /Eu electrochemical behavior as a function of water content in 1-ethyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide ([EMIm][NTf ]) was investigated using UV-visible spectrophotometry, time-resolved laser fluorescence spectroscopy, electrochemistry, and X-ray absorption spectroscopy.

Clinical Tractor: A Framework for Automatic Natural Language Understanding of Clinical Practice Guidelines.

Computational representations of the semantic knowledge embedded within clinical practice guidelines (CPGs) may be a significant aid in creating computer interpretable guidelines (CIGs). Formalizing plain text CPGs into CIGs manually is a laborious and burdensome task, even using CIG tools and languages designed to improve the process. Natural language understanding (NLU) systems perform automated reading comprehension, parsing text and using reasoning to convert syntactic information from unstructured text into semantic information.

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Purpose: Current sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, including copy-number variations (CNVs), which have been shown as major contributors to unsolved IRD cases.

Methods: Five hundred IRD patients were analyzed with targeted next-generation sequencing (NGS).

A New Zebrafish Model for CACNA2D4-Dysfunction.

Purpose: Mutations in CACNA2D4, encoding the α2δ4 subunit of retinal voltage-gated calcium channels (Cav), cause a rare type of retinal dysfunction in human, mainly affecting cone vision. Here, we investigate the role of CACNA2D4 in targeting of Cav, its influence on cone-mediated signal transmission, and the cellular and subcellular changes upon loss of α2δ4 by exploiting the advantages of the cone-dominant zebrafish as model system.

Methods: We identified two zebrafish CACNA2D4 paralogs (cacna2d4a and cacna2d4b), analyzed their expression by RNA in situ hybridization and introduced truncating frameshift mutations through CRISPR/Cas9-mediated mutagenesis.

Macular hyperpigmentary changes in -Stargardt disease.

Background: Stargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are associated to a worse prognosis. The purpose of this study was to characterize macular hyperpigmentary changes in patients with STGD and associate them with the severity of phenotype.

Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations.

Background: Patients with retinal diseases frequently complain of poor visual function even when visual acuity is relatively unaffected. This clinical finding has been attributed to deficits in contrast sensitivity (CS). The purpose of our study was to evaluate the CS in patients with clinical and genetic diagnosis of inherited retinal degeneration (IRD) and relatively preserved visual acuity.

Comparison of Changes in the Number of Included Patients Between Interventional Trials and Observational Studies Published from 1995 to 2014 in Three Leading Journals.

Introduction: Since the late 1990s, research and administrative institutions have been developing health data warehouses and increasingly reusing claims data. The impact of these changes is not yet completely quantified. Our objective was to compare the change in the number of patients included per study between observational and interventional studies over a 20-year period starting in 1995.

Surveying Applicants to Improve the Family Medicine Residency Interview Day.

Introduction: The diversity of family medicine residency programs across the country makes a generalized assessment of applicant preferences and experiences regarding the interview experience difficult. As such, there have been few publications in recent years relating to interview trail trends and modification of the interview day process to meet the needs of applicants. The purpose of this project was to identify applicant preferences and trends among applicants interviewing at Penn State Health's Milton S.

Artificial Intelligence: Bayesian versus Heuristic Method for Diagnostic Decision Support.

Evoking strength is one of the important contributions of the field of Biomedical Informatics to the discipline of Artificial Intelligence. The University at Buffalo's Orthopedics Department wanted to create an expert system to assist patients with self-diagnosis of knee problems and to thereby facilitate referral to the right orthopedic subspecialist. They had two independent sports medicine physicians review 469 cases.

Peripheral Pigmented Retinal Lesions in Stargardt Disease.

Purpose: To investigate the prevalence of peripheral pigmented retinal lesions and associated clinical findings in patients with Stargardt disease.

Design: Retrospective case series.

Methods: Records at a single academic institution were reviewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesions on wide-field retinal imaging.

Secondary Use of Patient Data: Review of the Literature Published in 2016.

To summarize recent research and emerging trends in the area of secondary use of healthcare data, and to present the best papers published in this field, selected to appear in the 2017 edition of the IMIA Yearbook. A literature review of articles published in 2016 and related to secondary use of healthcare data was performed using two bibliographic databases. From this search, 941 papers were identified.