Dynamic undirected graphical models for time-varying clinical symptom and neuroimaging networks.

In this work, we propose methods to examine how the complex interrelationships between clinical symptoms and, separately, brain imaging biomarkers change over time leading up to the diagnosis of a disease in subjects with a known genetic near-certainty of disease. We propose a time-dependent undirected graphical model that ensures temporal and structural smoothness across time-specific networks to examine the trajectories of interactions between markers aligned at the time of disease onset. Specifically, we anchor subjects relative to the time of disease diagnosis (anchoring time) as in a revival process, and we estimate networks at each time point of interest relative to the anchoring time.

Predicting COVID-19 prognosis in hospitalized patients based on early status.

COVID-19 remains the fourth leading cause of death in the United States. Predicting COVID-19 patient prognosis is essential to help efficiently allocate resources, including ventilators and intensive care unit beds, particularly when hospital systems are strained. Our PLABAC and PRABLE models are unique because they accurately assess a COVID-19 patient's risk of death from only age and five commonly ordered laboratory tests.

Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel Variant.

Inherited syndromes of congenital enteropathy are rare, with many genetic causes described. Mutations of the gene results in the syndrome of intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (IDEDNIK, formerly in the medical literature as MEDNIK). The clinicopathologic features of the enteropathy in IDEDNIK syndrome have not been fully explored.

Children With Celiac Disease Consume Specific Food Additives More Frequently Compared to Children Without Celiac Disease.

Background: Gluten-free foods often contain food additives to improve palatability, but the long-term effects on the human gastrointestinal tract are not well known.

Aims: This study aimed to quantify frequency of food additive exposure in children with and without celiac disease (CD).

Methods: Children with and without CD were enrolled and demographic data and three-day diet records were obtained.

Aortic dissection following "ecstasy" use complicated by compartment syndrome.

Background: Patients who present to the emergency department (ED) with acute chest pain should receive a thorough history and exam to rule out rare, life-threatening conditions, such as drug-induced acute aortic dissections (AD).

Case Presentation: A 34-year-old man with a history of uncontrolled hypertension, smoking, and "ecstasy" use presented to the ED with an acute type A aortic dissection (AD). Following surgery to repair the dissection, he developed compartment syndrome of the lower extremity requiring muscle excision and neurolysis with subsequent wound debridement procedures.

Registration of 24-hour accelerometric rest-activity profiles and its application to human chronotypes.

By collecting data continuously over 24 hours, accelerometers and other wearable devices can provide novel insights into circadian rhythms and their relationship to human health. Existing approaches for analyzing diurnal patterns using these data, including the cosinor model and functional principal components analysis, have revealed and quantified population-level diurnal patterns, but considerable subject-level variability remained uncaptured in features such as wake/sleep times and activity intensity. This remaining informative variability could provide a better understanding of chronotypes, or behavioral manifestations of one's underlying 24-hour rhythm.

Conditional Gaussian graphical model for estimating personalized disease symptom networks.

The co-occurrence of symptoms may result from the direct interactions between these symptoms and the symptoms can be treated as a system. In addition, subject-specific risk factors (eg, genetic variants, age) can also exert external influence on the system. In this work, we develop a covariate-dependent conditional Gaussian graphical model to obtain personalized symptom networks.

Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles.

Background: Age of manifest Huntington's disease (HD) onset correlates with number of CAG repeats in the huntingtin gene. Little is known about onset with 36 to 39 repeats, the "reduced penetrance" (RP) range.

Objectives: We provide allele-specific estimates of HD penetrance (diagnostic confidence level of 4) for RP allele carriers.

Recurrence of Upper Extremity Deep Vein Thrombosis Secondary to COVID-19.

Infection with SARS-CoV-2 leading to COVID-19 induces hyperinflammatory and hypercoagulable states, resulting in arterial and venous thromboembolic events. Deep vein thrombosis (DVT) has been well reported in COVID-19 patients. While most DVTs occur in a lower extremity, involvement of the upper extremity is uncommon.

COVID-19 as a Trigger of Recurrent Guillain-Barré Syndrome.

Coronavirus 2019 (COVID-19) has been reported to trigger Guillain-Barré syndrome (GBS). While uncommon, recurrent GBS (rGBS) episodes, triggered by antecedent viral infections, have been reported in a small proportion of GBS patients, here we describe a patient with a recurrent case of GBS, occurring secondary to COVID-19 infection. Before this patient's episode, he had two prior GBS flares, each precipitated by a viral infection followed by complete recovery besides intermittent paresthesias.

Addressing Challenging Behavior During Hospitalizations for Children with Autism: A Pilot Applied Behavior Analysis Randomized Controlled Trial.

This study evaluated the feasibility, acceptance, and potential clinical benefit of brief applied behavior analysis (ABA)-based interventions for children and adolescents with autism spectrum disorder (ASD) displaying challenging behaviors during hospitalizations. Participants included 36 children diagnosed with ASD, 6-17 years of age, who were medically or psychiatrically hospitalized. Children in the intervention group received a brief ABA intervention and were compared to children in the evaluation and monitoring-only group.

Functional Characterization of Clinical Isolates of the Opportunistic Fungal Pathogen Aspergillus nidulans.

is an opportunistic fungal pathogen in patients with immunodeficiency, and virulence of isolates has mainly been studied in the context of chronic granulomatous disease (CGD), with characterization of clinical isolates obtained from non-CGD patients remaining elusive. This study therefore carried out a detailed biological characterization of two clinical isolates (CIs), obtained from a patient with breast carcinoma and pneumonia and from a patient with cystic fibrosis that underwent lung transplantation, and compared them to the reference, nonclinical FGSC A4 strain. Both CIs presented increased growth in comparison to that of the reference strain in the presence of physiologically relevant carbon sources.

Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials.

Introduction: In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisone/prednisolone placebo arm treatment in two recent Duchenne muscular dystrophy (DMD) clinical trials.

Methods: Ambulatory boys with DMD receiving placebo in the phase 3 ataluren (N = 115) and tadalafil (N = 116) trials were included. The trials required at least 6 months of prior corticosteroid use and stable baseline dosing.

Investigation of inter- and intraspecies variation through genome sequencing of Aspergillus section Nigri.

Aspergillus section Nigri comprises filamentous fungi relevant to biomedicine, bioenergy, health, and biotechnology. To learn more about what genetically sets these species apart, as well as about potential applications in biotechnology and biomedicine, we sequenced 23 genomes de novo, forming a full genome compendium for the section (26 species), as well as 6 Aspergillus niger isolates. This allowed us to quantify both inter- and intraspecies genomic variation.

Manual Gene Curation and Functional Annotation.

No genome sequencing project is complete without structural and functional annotation. Gene models and functional predictions for these models can be obtained relatively easily using computational methods, but they are prone to errors. We describe herein the steps we use to manually curate gene models and functionally annotate them.

Nutrition and Bone Density in Boys with Autism Spectrum Disorder.

Background: Boys with autism spectrum disorder (ASD) have lower bone mineral density (BMD) than typically developing controls. Differences in diet and exercise may contribute to low BMD.

Objective: Our aim was to examine macro- and micronutrient intakes and self-reported physical activity in boys with ASD compared to TDC and the relationship of these variables with BMD.

Phase II Study of Proton-Based Stereotactic Body Radiation Therapy for Liver Metastases: Importance of Tumor Genotype.

Background: We evaluated the efficacy and safety of risk-adapted, proton-based stereotactic body radiation therapy (SBRT) for liver metastases from solid tumors.

Methods: This single-arm phase II single institutional study (NCT01239381) included patients with limited extrahepatic disease, 800 mL or greater of uninvolved liver, and no cirrhosis or Child-Pugh A, who had received proton-based SBRT to one to four liver metastases from solid tumors. Treatment comprised 30 to 50 Gray equivalent (GyE) in five fractions based on the effective volume of liver irradiated.

Causal inference methods to study gastric tube use in amyotrophic lateral sclerosis.

Objective: To estimate effects of gastric tube (G-tube) on survival and quality of life (QOL) in people with amyotrophic lateral sclerosis (ALS) correcting for confounding by indication inherent in nonrandomized observational data.

Methods: To complement a recent causal inference analysis, which concluded that G-tube placement increases the hazard of death, permanent assisted ventilation, or tracheostomy by 28%, we fit causal inference models on a different sample of 481 patients with ALS enrolled in a recent clinical trial of ceftriaxone. Forward selection identified predictors of G-tube placement.

Functional Decline is Associated with Hopelessness in Amyotrophic Lateral Sclerosis (ALS).

Objective: To determine the relationships between hopelessness, depression, quality of life, and disease progression in ALS.

Methods: Hopelessness and depression were assessed prospectively in a cohort of people with ALS using the Beck Hopelessness scale (BHS) and the ALS Depression Inventory (ADI-12), respectively. ALS Specific Quality of Life and measures of functional status (ALSFRS-R and forced vital capacity) were collected.

Associations of quality of life with health-related characteristics among children with autism.

We examine whether behavioral, mental health, and physical health characteristics of children with autism are associated with baseline and change in health-related quality of life. We measured health-related quality of life with the Pediatric Quality of Life Inventory 4.0 total scores from children enrolled in the Autism Treatment Network.

Improving symptom management for people with amyotrophic lateral sclerosis.

Introduction: Symptomatic management is the main focus of ALS clinical care. We aim to report the prevalence of ALS-related symptoms and characterize self-reported symptomatic management.

Methods: A symptom management survey developed by the Muscular Dystrophy Association Clinical Research Network was completed by ALS registrants.