Publications by authors named "Ryan Webb"
Purpose: The ClinGen Hearing Loss Gene Curation Expert Panel (GCEP) was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen's semi-quantitative framework. ClinGen mandates timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong, every 2-3 years.
Methods: Thirty-five GDRs met the criteria for recuration within two years of original curation.
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
When people make choices, the items they consider are often embedded in a context (of other items). How this context affects the valuation of the specific item is an important question. High-value context might make items appear less attractive because of contrast-the tendency to normalize perception of an object relative to its background-or more attractive because of assimilation-the tendency to group objects together.
View Article and Find Full Text PDFBackground: Multisystem inflammatory syndrome in children (MIS-C) is a severe post-acute sequela of SARS-CoV-2 infection. The highly diverse clinical features of MIS-C necessities characterizing its features by subphenotypes for improved recognition and treatment. However, jointly identifying subphenotypes in multi-site settings can be challenging.
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- Researchers studied electronic health records and chart reviews from nine pediatric medical centers to find seven children diagnosed with MIS-C who were treated as outpatients.* -
- The study highlights that some cases of MIS-C can have mild symptoms and do not necessarily require hospitalization.* -
- The findings aim to increase awareness among healthcare providers about the possibility of managing MIS-C outpatient instead of automatically admitting children to the hospital.*
Symptoms of normal pressure hydrocephalus (NPH) and Alzheimer's disease (AD) are somewhat similar, and it is common to misdiagnose these two conditions. Although there are fluid markers detectable in humans with NPH and AD, determining which biomarker is optimal in representing genetic characteristics consistent throughout species is poorly understood. Here, we hypothesize that NPH can be differentiated from AD with mRNA biomarkers of unvaried proximity to telomeres.
View Article and Find Full Text PDFBackground: Limited compression bedside ultrasonography (LCUS) including two-point, three-point, and extended compression examinations have become increasingly popular among emergency physicians to assess for lower extremity deep venous thrombosis (DVT).
Objective: Our objective in this study was to determine the prevalence and distribution of lower extremity DVT in sites identified by complete duplex ultrasonography (CDUS) that may potentially be missed using limited compression ultrasonography techniques.
Methods: This was a retrospective, multicenter study conducted at 12 hospitals within the Northwell Health system over a span of 4 years.
Importance: The postacute sequelae of SARS-CoV-2 infection (PASC) has emerged as a long-term complication in adults, but current understanding of the clinical presentation of PASC in children is limited.
Objective: To identify diagnosed symptoms, diagnosed health conditions, and medications associated with PASC in children.
Design, Setting And Participants: This retrospective cohort study used electronic health records from 9 US children's hospitals for individuals younger than 21 years who underwent antigen or reverse transcriptase-polymerase chain reaction (RT-PCR) testing for SARS-CoV-2 between March 1, 2020, and October 31, 2021, and had at least 1 encounter in the 3 years before testing.
Importance: The post-acute sequelae of SARS-CoV-2 (PASC) has emerged as a long-term complication in adults, but current understanding of the clinical presentation of PASC in children is limited.
Objective: To identify diagnosed symptoms, diagnosed health conditions and medications associated with PASC in children.
Design Setting And Participants: Retrospective cohort study using electronic health records from 9 US children's hospitals for individuals <21 years-old who underwent reverse transcriptase polymerase chain reaction (RT-PCR) testing for SARS-CoV-2 between March 1, 2020 - October 31, 2021 and had at least 1 encounter in the 3 years before testing.
Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not.
Methods: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship.
Background: Thymic carcinomas are rare aggressive mediastinal tumors with a median survival of 2 years.
Observation: We present a pediatric patient who was diagnosed with metastatic thymic carcinoma and showed continuous improvement of his primary mass and lung metastases with a regimen of cisplatin/docetaxel followed by long-term maintenance therapy with sunitinib for over 5 years.
Conclusions: This report demonstrates a long-term positive treatment effect using chemotherapy followed by sunitinib in an advanced thymic carcinoma.
Cell fate decisions during development are governed by multi-factorial regulatory mechanisms including chromatin remodeling, DNA methylation, binding of transcription factors to specific loci, RNA transcription and protein synthesis. However, the mechanisms by which such regulatory "dimensions" coordinate cell fate decisions are currently poorly understood. Here we quantified the multi-dimensional molecular changes that occur in mouse embryonic stem cells (mESCs) upon depletion of Estrogen related receptor beta (Esrrb), a key pluripotency regulator.
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- Pituitary cysts or cyst-like structures are frequently identified in children during high-resolution brain MRI scans, found in 57.7% of the 232 cases reviewed.
- Most cysts were small, averaging around 3.6 mm, and showed typical imaging characteristics such as being hypointense on T1-weighted images.
- Endocrine issues related to these cysts were rare, with only 1.5% of affected children showing abnormalities, indicating that follow-up is usually unnecessary for asymptomatic cases.
Humans are often inconsistent (irrational) when choosing among simple bundles of goods, even without any particular changes to framing or context. However, the neural computations that give rise to such inconsistencies are still unknown. Similar to sensory perception and motor output, we propose that a substantial component of inconsistent behavior is due to variability in the neural computation of value.
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- Intestinal malrotation occurs when the fetal intestine doesn’t properly rotate around the superior mesenteric artery, leading to potential complications like bowel obstruction and volvulus.
- Patients can have varied symptoms, including vomiting and abdominal pain, which may sometimes be atypical or chronic, making diagnosis challenging.
- Imaging, particularly the upper GI series, is crucial for diagnosis, but factors like proper technique and other medical conditions can affect results, potentially leading to misdiagnosis; the article presents cases to help radiologists avoid such errors.
Adaptive neural coding: from biological to behavioral decision-making.
Curr Opin Behav Sci
October 2015
Empirical decision-making in diverse species deviates from the predictions of normative choice theory, but why such suboptimal behavior occurs is unknown. Here, we propose that deviations from optimality arise from biological decision mechanisms that have evolved to maximize choice performance within intrinsic biophysical constraints. Sensory processing utilizes specific computations such as divisive normalization to maximize information coding in constrained neural circuits, and recent evidence suggests that analogous computations operate in decision-related brain areas.
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- The study investigates how fasting blood glucose levels affect the uptake of (18)F-FDG in various tissues of patients undergoing PET scans for tumors, highlighting the importance of maintaining stable glucose levels before the procedure.
- A total of 229 patients were analyzed, categorized into low, medium, and high glucose groups, with findings showing a significant increase in FDG uptake in the liver as glucose levels rose, particularly in the right and left hepatic lobes.
- The results suggest that blood glucose levels influence the biodistribution of (18)F-FDG, emphasizing that this should be considered when interpreting imaging results, especially in liver assessments.
In Oklahoma, the infant mortality rate is higher than the national rate. Fetal Infant Mortality Review (FIMR) is an effective perinatal systems intervention. FIMR gathers information from medical, social, and community sources taking a comprehensive look at how well these systems are serving women and infants.
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- Normalization is a key neural process that enhances sensory processing and value coding in decision-making areas of the brain, yet most models do not account for the time-dependent nature of decision-making.
- This study introduces a differential equation model that captures how normalization interacts with decision-making over time, predicting specific patterns in neural activity related to value coding and contextual influences.
- The findings align with observed behavior in monkey lateral intraparietal cortex neurons, suggesting that a unified neural mechanism can manage both short-term and long-term decision-making processes effectively.
Article Synopsis
- Acute kidney injury (AKI) and acute lung injury (ALI) often occur together during sepsis, challenging the typical view of AKI as a late complication, and sensitive markers are needed to detect AKI early.* -
- In a mouse study, researchers induced sepsis and found that AKI and ALI appeared within 4 hours using sensitive testing methods, despite traditional kidney function measures like creatinine showing no change.* -
- The study suggests that TNF-α is involved in causing both AKI and ALI early in sepsis, and administering a TNF-α antibody before sepsis reduced inflammation and kidney damage but was ineffective if given afterward.*
Objective: To determine the amount and type of feedback needed to improve pharmacy students' problem-solving skills using team-based learning (TBL) and a problem-solving rubric.
Methods: A problem-solving rubric was developed to assess the ability of pharmacy students' to prioritize, organize, and defend the best and alternative options on TBL cases The study involved 3 groups of pharmacy students: second-year students in a cardiology class who received no feedback (control group), third-year students in an endocrinology class who received written feedback only, and third-year students in an endocrinology class who received written and verbal feedback. Students worked in groups on all TBL cases except the first and last one (beginning and end of course), which students completed independently as it served as a pretest and posttest.