Acute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.

Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.

Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.

Background: Acute Hepatic Porphyria is a group of four rare genetic but treatable diseases that often go undiagnosed due to its non-specific symptoms, under-recognition of the condition by clinicians, and the lack of access to specialists and appropriate testing. This case-control study investigates the phenotypic and demographic patterns in Acute Hepatic Porphyria (AHP) patients at a tertiary care center (University of California Los Angeles) to update recommendations for recognition and diagnosis of this disease in our community.

Method: A retrospective chart analysis was conducted on 45 patients who were evaluated for AHP, Electronic Medical Record (EMR) data was collected and analyzed to investigate clinical differences and correlations.

A Promising Pathway Toward Mitigation and Eradication of Coronary Artery Disease.

Cardiovascular disease remains the leading cause of death in the United States and globally. Significant advances have been made throughout the history of cardiology and the treatment of this disease; however, these efforts have not halted the alarming statistics. Emerging approaches, such as artificial intelligence applied to cardiac imaging, genetic testing, and genetic silencing, may offer essential additional steps in treating the disease.

Accurate Intramyocardial Hemorrhage Assessment with Fast, Free-running, Cardiac Quantitative Susceptibility Mapping.

Purpose To evaluate the performance of a high-dynamic-range quantitative susceptibility mapping (HDR-QSM) cardiac MRI technique to detect intramyocardial hemorrhage (IMH) and quantify iron content using phantom and canine models. Materials and Methods A free-running whole-heart HDR-QSM technique for IMH assessment was developed and evaluated in calibrated iron phantoms and 14 IMH female canine models. IMH detection and iron content quantification performance of this technique was compared with the conventional iron imaging approaches, R2*(1/T2*) maps, using measurements from ex vivo imaging as the reference standard.

Equity Landscape in Healthcare Quality: A Mixed-Methods Study of Efforts within Surgical Quality Programs.

Background: Addressing equity in healthcare is necessary to improve population health outcomes. In doing so, a requisite level of foundational resources, organization, and processes are needed. Although increasing attention is being devoted to addressing health inequities, the current landscape supporting these efforts remains unknown.

The Use of Next-Generation Sequencing to Assist in the Diagnosis of Atypical Vasculitis.

Vasculitis can be challenging to diagnose, especially when vessels of multiple sizes are affected and manifestations do not classically fit into defined rheumatic disease entities. We present the case of a 58-year-old Caucasian woman who presented with headache and altered mental status, with subsequent left-sided hemiparesis and hemispatial neglect eight days after a dental procedure. She was found to have extensive multi-focal ischemic infarctions secondary to vasculitis affecting multiple intracranial blood vessels.

Safety and Efficacy of Deucravacitinib in Moderate to Severe Plaque Psoriasis For Up to 3 Years: An Open-Label Extension of Randomized Clinical Trials.

Importance: Safe and effective long-term treatments for moderate to severe plaque psoriasis are needed.

Objective: To evaluate the long-term safety and efficacy of deucravacitinib through 3 years (week 148) in the randomized POETYK PSO-1, PSO-2, and nonrandomized long-term extension (LTE) trials.

Design, Setting, And Participants: PSO-1/PSO-2 were global, 52-week, randomized, double-blinded phase 3 trials in patients with moderate to severe plaque psoriasis.

Phenotypes and Trajectories of Tobacco-exposed Persons with Preserved Spirometry: Insights from Lung Volumes.

Among tobacco-exposed persons with preserved spirometry (TEPS), we previously demonstrated that different lung volume indices, specifically elevated total lung capacity (TLC) versus elevated ratio of functional residual capacity-to-TLC (FRC/TLC), identify different lung disease characteristics in the COPDGene cohort. Determine differential disease characteristics and trajectories associated with the lung volume indices among TEPS in the SPIROMICS cohort. We categorized TEPS (n=814) by tertiles (low, intermediate, high) of TLC or residual volume-to-TLC (RV/TLC) derived from baseline CT images, and then examined clinical and spirometric disease trajectories in mutually exclusive categories of participants with high TLC without high RV/TLC ([TLC]) versus high RV/TLC without high TLC ([RV/TLC]).

Spatial resolution enhancement using deep learning improves chest disease diagnosis based on thick slice CT.

CT is crucial for diagnosing chest diseases, with image quality affected by spatial resolution. Thick-slice CT remains prevalent in practice due to cost considerations, yet its coarse spatial resolution may hinder accurate diagnoses. Our multicenter study develops a deep learning synthetic model with Convolutional-Transformer hybrid encoder-decoder architecture for generating thin-slice CT from thick-slice CT on a single center (1576 participants) and access the synthetic CT on three cross-regional centers (1228 participants).

Blood-brain barrier disruption and increased free water are associated with worse cognitive performance in patients with chronic cerebrovascular disease.

Progression of cerebral small vessel disease (CSVD) is associated with cognitive decline. Blood-brain barrier disruption (BBBD) and fluid extravasation to the interstitial space may contribute to progression of white matter hyperintensities (WMH). We hypothesized that increased free water (FW) would colocalize with BBBD and relate to cognitive performance.

ICU nutrition research: did the evidence get better? Remaining sources of bias.

Purpose Of The Review: To assess the quality of recently published (18 months from date of article request) randomized trials/systematic reviews of such trials that addressed the use of nutritional support in critically ill patients.

Recent Findings: Eligible papers were published between October 1, 2022 and April 7, 2024, only enrolled adults, described a comparison of a nutritional intervention to something else, and reported a clinically relevant outcome. Thirteen randomized trials and four systematic reviews of randomized trials were identified.

How Well Are Surgical Quality Improvement Projects Planned? Review of 242 Surgical Improvement Efforts Across 5 American College of Surgeons Quality Programs.

Background: Structured preparation is necessary to conduct quality improvement (QI) strategies that are relevant to the problem, feasible, appropriately resourced, and potentially effective. Recent work suggests that improvement efforts are suboptimally conducted. Our goal was to determine how well preparation for surgical QI is undertaken, including detailing the problem, setting project goals, and planning an intervention.

Understanding Diversity, Equity, and Inclusion Roles in Academic Neurology Departments.

Academic neurology departments across the country have been rapidly adding diversity, equity, and inclusion (DEI) programs over the past 5-10 years. These programs frequently come with leadership roles that carry a variety of names and responsibilities, such as vice chair of DEI or diversity officer. Furthermore, there are roles for members of the department to be involved with DEI work without being designated the departmental DEI leader.

Caffeine Use in Huntington's Disease: A Single Center Survey.

Background: Anecdotal evidence suggests paradoxical caffeine overuse in individuals with Huntington's disease (HD). A small retrospective study associated caffeine intake over 190 grams daily to earlier onset of HD symptoms. However, specific data on consumption habits is limited.

Comparing the Ability of Google and ChatGPT to Accurately Respond to Oculoplastics-Related Patient Questions and Generate Customized Oculoplastics Patient Education Materials.

Purpose: To compare the accuracy and readability of responses to oculoplastics patient questions provided by Google and ChatGPT. Additionally, to assess the ability of ChatGPT to create customized patient education materials.

Methods: We executed a Google search to identify the 3 most frequently asked patient questions (FAQs) related to 10 oculoplastics conditions.

Within-hospital Temporal Clustering of Postoperative Complications and Implications for Safety Monitoring and Benchmarking Using ACS-NSQIP Data.

Objective: To determine the extent to which within-hospital temporal clustering of postoperative complications is observed in the American College of Surgeons, National Surgical Quality Improvement Program (ACS-NSQIP).

Background: ACS-NSQIP relies on periodic and on-demand reports for quality benchmarking. However, if rapid increases in postoperative complication rates (clusters) are common, other reporting methods might be valuable additions to the program.

Social Vulnerability and Receipt of Guideline-Concordant Care among Patients with Colorectal Cancer.

Background: Cancer outcome disparities have been reported in highly vulnerable communities. The objective of this study was to evaluate the association of social vulnerability with receipt of guideline-concordant care (GCC) and mortality risk for patients with colorectal cancer.

Study Design: This retrospective observational study identified patients with stage I-III colon or stage II-III rectal cancer between 2018 and 2020 from the National Program of Cancer Registries Database.

Validation and comparison of triage-based screening strategies for sepsis.

Objective: This study sought to externally validate and compare proposed methods for stratifying sepsis risk at emergency department (ED) triage.

Methods: This nested case/control study enrolled ED patients from four hospitals in Utah and evaluated the performance of previously-published sepsis risk scores amenable to use at ED triage based on their area under the precision-recall curve (AUPRC, which balances positive predictive value and sensitivity) and area under the receiver operator characteristic curve (AUROC, which balances sensitivity and specificity). Score performance for predicting whether patients met Sepsis-3 criteria in the ED was compared to patients' assigned ED triage score (Canadian Triage Acuity Score [CTAS]) with adjustment for multiple comparisons.