Publications by authors named "Samuel Huang"

Article Synopsis
  • Inherited retinal diseases (IRDs) lead to vision impairment and blindness, making genetic testing crucial for accurate diagnosis and understanding disease mechanisms.
  • Genetic testing was conducted on 103 patients, with 70 receiving reported genetic findings, including 20 previously unreported variants.
  • The results enhance clinical diagnosis, inform patient counseling for prognosis and family planning, and improve treatment options, while also broadening the known genetic mutations associated with IRDs.
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Article Synopsis
  • - A rare genetic condition involving mitochondrial complex III deficiency and lactic acidosis, characterized by scalp alopecia, was identified in two unrelated cases and discussed further with a participant from the Undiagnosed Diseases Network (UDN).
  • - The participant had two autosomal recessive disorders discovered through genome sequencing: mitochondrial complex III deficiency and cataracts, with specifics on previously documented pathogenic variants for each condition.
  • - A combination of enzyme assays and cellular proteomics showed clear dysfunction in complex III and low levels of a crucial protein, validating the genetic mutations' pathogenic effects and broadening understanding of these rare disorders.
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Importance: Sleep is critical to a person's physical and mental health and there is a need to create high performing machine learning models and critically understand how models rank covariates.

Objective: The study aimed to compare how different model metrics rank the importance of various covariates.

Design, Setting, And Participants: A cross-sectional cohort study was conducted retrospectively using the National Health and Nutrition Examination Survey (NHANES), which is publicly available.

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Purpose: To report on cases of unilateral perimacular atrophy after treatment with voretigene neparvovec-rzyl, in the setting of previous contralateral eye treatment with a different viral vector.

Design: Single-center, retrospective chart review.

Methods: In this case series, four patients between the ages of six and 11 years old with RPE65-related retinopathy were treated unilaterally with rAAV2-CB-hRPE65 as part of a gene augmentation clinical trial (NCT00749957).

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Objective And Aims: Identification of associations between the obese category of weight in the general US population will continue to advance our understanding of the condition and allow clinicians, providers, communities, families, and individuals make more informed decisions. This study aims to improve the prediction of the obese category of weight and investigate its relationships with factors, ultimately contributing to healthier lifestyle choices and timely management of obesity.

Methods: Questionnaires that included demographic, dietary, exercise and health information from the US National Health and Nutrition Examination Survey (NHANES 2017-2020) were utilized with BMI 30 or higher defined as obesity.

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The G protein-coupled receptor 108 () gene encodes a protein factor identified as critical for adeno-associated virus (AAV) entry into mammalian cells, but whether it is universally involved in AAV transduction is unknown. Remarkably, we have discovered that is absent in the genomes of birds and in most other sauropsids, providing a likely explanation for the overall lower AAV transduction efficacy of common AAV serotypes in birds compared to mammals. Importantly, transgenic expression of human and manipulation of related glycan binding sites in the viral capsid significantly boost AAV transduction in zebra finch cells.

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Objective: To evaluate the association and utility of low 1- and 5-min Apgar scores to identify short-term morbidities in a large newborn cohort.

Methods: 15,542 infants >22 weeks gestation from a single center were included. Clinical data and low Apgar scores were analyzed for significance to ten short-term outcomes and were used to construct Receiver Operating Characteristic Curves and the AUC calculated for ten outcomes.

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This technical report serves as a comprehensive guide for conducting a phenome-wide association study (PheWAS) utilizing data extracted from the Nationwide Inpatient Sample 2020. Specifically tailored to individuals diagnosed with pancreatic cysts and lung cancer, the report establishes a step-by-step workflow designed to assist researchers in uncovering potential associations within this specific cohort. The methodology outlined in the report ensures clarity and reproducibility by employing a curated cohort sourced from the GitHub repository and executed using R for robust data analysis.

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Importance: The prevalence of obesity among United States adults has increased from 34.9% in 2013-2014 to 42.8% in 2017-2018.

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Importance: The prevalence of obesity among United States adults has increased from 30.5% in 1999 to 41.9% in 2020.

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Background: Asthma attacks are a major cause of morbidity and mortality in vulnerable populations, and identification of associations with asthma attacks is necessary to improve public awareness and the timely delivery of medical interventions.

Objective: The study aimed to identify feature importance of factors associated with asthma in a representative population of US adults.

Methods: A cross-sectional analysis was conducted using a modern, nationally representative cohort, the National Health and Nutrition Examination Surveys (NHANES 2017-2020).

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Machine learning methods are widely used within the medical field to enhance prediction. However, little is known about the reliability and efficacy of these models to predict long-term medical outcomes such as blood pressure using lifestyle factors, such as diet. The authors assessed whether machine-learning techniques could accurately predict hypertension risk using nutritional information.

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Machine-learning techniques have been increasing in popularity within medicine during the past decade. However, these computational techniques are not presented in statistical lectures throughout medical school and are perceived to have a high barrier to entry. The objective is to develop a concise pipeline with publicly available data to decrease the learning time towards using machine learning for medical research and quality-improvement initiatives.

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Background: Depression affects personal and public well-being and identification of natural therapeutics such as nutrition is necessary to help alleviate this public health concern.

Objective: The study aimed to identify feature importance in a machine learning model using solely nutrition covariates.

Methods: A retrospective analysis was conducted using a modern, nationally representative cohort, the National Health and Nutrition Examination Surveys (NHANES 2017-2020).

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Background And Aims: Depression is a major public health concern that affects over 4% of the global population. Identification of new nonpharmacologic recommendations will help decrease the burden of disease. The overarching of this study was to examine the association between physical activity and depressive symptoms in a large sample of adults in the United States.

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Background: There has been evidence to suggest associations between vitamins and lung function.

Objective: This study aimed to examine the association between vitamin B6 and spirometry values.

Methods: A cross-sectional study was done using National Health and Nutritional Examination Surveys (NHANES) 2007-2012, which is a nationally representative, modern cohort.

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Background: There is a continual push for developing accurate predictors for Intensive Care Unit (ICU) admitted heart failure (HF) patients and in-hospital mortality.

Objective: The study aimed to utilize transparent machine learning and create hierarchical clustering of key predictors based off of model importance statistics gain, cover, and frequency.

Methods: Inclusion criteria of complete patient information for in-hospital mortality in the ICU with HF from the MIMIC-III database were randomly divided into a training (n = 941, 80%) and test (n = 235, 20%).

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Background And Aim: The COVID-19 disease course can be thought of as a function of prior risk factors consisting of comorbidities and outcomes. Survival analysis data for diabetic patients with COVID-19 from an up to date and representative sample can increase efficiency in resource allocation. The study aimed to quantify mortality in Mexico for individuals with diabetes in the setting of COVID-19 hospitalization.

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Background: Depression is a rapidly increasing public health concern, affecting >4% of the global population. Identification of new nutritional recommendations is needed to help combat this increasing public health concern.

Objectives: The study aimed to examine the association between vitamin E intake and depressive symptoms.

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Background And Aims: All fields have seen an increase in machine-learning techniques. To accurately evaluate the efficacy of novel modeling methods, it is necessary to conduct a critical evaluation of the utilized model metrics, such as sensitivity, specificity, and area under the receiver operator characteristic curve (AUROC). For commonly used model metrics, we proposed the use of analytically derived distributions (ADDs) and compared it with simulation-based approaches.

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Background: Diabetes mellitus is a chronic health condition that has been linked with an increased risk of severe illness and mortality from COVID-19. In Mexico, the impact of diabetes on COVID-19 outcomes in hospitalized patients has not been fully quantified. Understanding the increased risk posed by diabetes in this patient population can help healthcare providers better allocate resources and improve patient outcomes.

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Coronary artery disease (CAD) is the leading cause of death in both developed and developing nations. The objective of this study was to identify risk factors for coronary artery disease through machine-learning and assess this methodology. A retrospective, cross-sectional cohort study using the publicly available National Health and Nutrition Examination Survey (NHANES) was conducted in patients who completed the demographic, dietary, exercise, and mental health questionnaire and had laboratory and physical exam data.

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Purpose: The purpose of this study was to evaluate rod-mediated function with two-color dark-adapted perimetry (2cDAP) in patients with RPE65-related retinopathy treated with voretigene neparvovec-rzyl.

Methods: Following dilation and dark adaptation, 2cDAP and FST were performed. The 2cDAP was measured on an Octopus 900 perimeter (Haag-Streit) with cyan (500 nm wavelength) and red (650 nm wavelength) stimuli.

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Importance: Sleep is critical to a person's physical and mental health, but there are few studies systematically assessing risk factors for sleep disorders.

Objective: The objective of this study was to identify risk factors for a sleep disorder through machine-learning and assess this methodology.

Design, Setting, And Participants: A retrospective, cross-sectional cohort study using the publicly available National Health and Nutrition Examination Survey (NHANES) was conducted in patients who completed the demographic, dietary, exercise, and mental health questionnaire and had laboratory and physical exam data.

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