Publications by authors named "Sarah Weber"

Purpose: Bloodstream infections caused by Pseudomonas aeruginosa (PABSI) in hematological patients are associated with high morbidity and mortality. We investigated the epidemiology, risk factors, and outcomes of PABSI at our center.

Methods: All adult hematological patients with PABSI between January 2013 and July 2023 were included.

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Bardet-Biedl syndrome (BBS), an autosomal recessive ciliopathy with pleiotropic effects, manifests as a spectrum of anomalies involving multiple genes and affects fewer than 3,000 individuals in the USA. Due to its rarity and phenotypic variability, early diagnosis of BBS poses a significant challenge. Therefore, we aim to shed light on the intrafamilial phenotypic variation of BBS resulting from a variant by delineating the clinical presentation in two siblings.

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Article Synopsis
  • The study examined how clinical leaders in emergency care manage patient care during Chemical, Biological, Radiological, and Nuclear (CBRNe) disasters, highlighting their critical decision-making roles.
  • Focus groups with 36 leaders from various hospitals revealed key strategies such as conducting rehearsals, implementing new care models, and learning from previous experiences, though they faced challenges like resource limitations and hospital overcrowding.
  • Recommendations included improving education and training for leaders, adopting flexible care models, and utilizing established processes to enhance hospital responses during CBRNe incidents.
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Introduction: Natural hazards resulting in disasters are increasing globally, impacting communities and disrupting industries. In addition to planning for these natural hazard disasters, emergency departments (EDs) should prepare for chemical, biological, radiological, and nuclear (CBRN) incidents that result in surges of patient presentations. Chemical, biological, radiological, and nuclear incidents differ in preparedness to natural hazards, requiring an understanding of patient management and health system-related challenges.

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Background: Unhealthy alcohol use is widespread in South Africa and has been linked to tuberculosis (TB) disease and poor treatment outcomes. This study used qualitative methods to explore the relationship between TB and alcohol use during TB treatment.

Methods: Focus group discussions (FGDs) were conducted with 34 participants who had previous or current drug-susceptible TB and self-reported current alcohol use.

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Background: In South Africa, an estimated 11% of the population have high alcohol use, a major risk factor for TB. Alcohol and other substance use are also associated with poor treatment response, with a potential mechanism being altered TB drug pharmacokinetics.

Objectives: To investigate the impact of alcohol and illicit substance use on the pharmacokinetics of first-line TB drugs in participants with pulmonary TB.

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The activity-regulated cytoskeleton-associated protein (Arc) is a complex regulator of synaptic plasticity in glutamatergic neurons. Understanding its molecular function is key to elucidate the neurobiology of memory and learning, stress regulation, and multiple neurological and psychiatric diseases. The recent development of anti-Arc nanobodies has promoted the characterization of the molecular structure and function of Arc.

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Objective: To review the literature on the utility of the Conners CPT-3 in persons with ADHD.

Methods: A systematic review was conducted. Six databases were searched using inclusion criteria: research studies, year 2000+, English, and ages 8+.

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Article Synopsis
  • Elderly patients with severe COVID-19 showed reduced T-cell diversity and weaker immune responses compared to younger patients, highlighting age-related vulnerabilities in fighting the virus.
  • The study used advanced sequencing techniques to analyze T-cell responses in both COVID-19 patients and individuals with inborn errors of immunity who received an mRNA vaccine, revealing specific genetic associations affecting these responses.
  • Findings indicated that mRNA vaccines successfully enhanced the T-cell responses in individuals with immune deficiencies, suggesting their effectiveness even in populations that struggle to develop strong immune responses on their own.
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We have shown previously that expression of R345W-Fibulin-3 induces epithelial-mesenchymal transition (EMT) in retinal pigment epithelial (RPE) cells. The purpose of the current study was to determine if extracellular vesicles (EVs) derived from RPE cells expressing R345W-Fibulin-3 mutation are sufficient to induce EMT in recipient cells. ARPE-19 cells were infected with luciferase-tagged wild-type (WT)- Fibulin-3 or luciferase-tagged R345W-Fibulin-3 (R345W) using lentiviruses.

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Background: Unhealthy alcohol use is widespread in South Africa and has been linked to tuberculosis (TB) disease and poor treatment outcomes. This study used qualitative methods to explore the relationship between TB and alcohol use during TB treatment.

Methods: Focus groups (FGs) were conducted with 34 participants who had previous or current drugsusceptible TB and self-reported current alcohol use.

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Background: Acute myeloid leukaemia (AML) is treated with intensive induction chemotherapy (IT) in medically fit patients. In general, obesity was identified as a risk factor for all-cause mortality, and there is an ongoing debate on its impact on outcome and optimal dosing strategy in obese AML patients.

Methods: We conducted a registry study screening 7632 patients and assessed the impact of obesity in 1677 equally IT treated, newly diagnosed AML patients on the outcome (OS, EFS, CR1), comorbidities, toxicities and used dosing strategies.

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Due to the close relationship between the vitreous and posterior eye layers, the microenvironment of these layers can affect the composition of the vitreous. Molecular analysis of the vitreous may therefore provide important insights into the pathogenesis of chorioretinal diseases. In this study, vitreous cytokines (n = 41) were evaluated to gain further insights into the tumor microenvironment in uveal melanoma (UM) arising from the choroid (CM).

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Female genital mutilation/cutting (FGM/C) describes several procedures that involve injury to the vulva or vagina for nontherapeutic reasons. Though at least 200 million women and girls living in 30 countries have undergone FGM/C, there is a paucity of studies focused on public perception of FGM/C. We used machine learning methods to characterize discussion of FGM/C on Twitter in English from 2015 to 2020.

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Retinal diseases like diabetic retinopathy and age-related macular degeneration affect millions of individuals worldwide and often lead to vision loss. Vitreous fluid abuts the retina, is accessible for sampling, and contains many proteins related to retinal disease. Therefore, analysis of vitreous is an important tool for studying retinal disease.

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Mammals respond to amino acid (AA) deficiency by initiating an AA response pathway (AAR) that involves the activation of general control nonderepressible 2 (GCN2), phosphorylation of eukaryotic translation initiation factor 2α (eIF2α), and activation of transcription factor 4 (ATF4). In this study, the effects of protein (N) and/or phosphorus (P) restriction on the GCN2/eIF2α/ATF4 pathway in the liver and the induction of fibroblast growth factor 21 (FGF21) in young goats were investigated. An N-reduced diet resulted in a decrease in circulating essential AA (EAA) and an increase in non-essential AA (NEAA), as well as an increase in hepatic mRNA expression of and and protein expression of GCN2.

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Article Synopsis
  • Mycobacterial culture conversion is used to gauge tuberculosis treatment success, but missing data from sputum samples can skew results.
  • In a study with 261 participants, various methods for handling missing data were compared, including available case analysis, last observation carried forward, and multiple imputation.
  • Results showed that multiple imputation gave the most accurate and reliable estimates of culture conversion, leading to a higher conversion rate reported compared to the other methods.
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Background: Transcranial direct current stimulation (tDCS) is used as treatment for auditory verbal hallucinations (AVH). The theory behind the treatment is that tDCS activity in prefrontal cognitive control areas, which are assumed to be active, and simultaneously activity in temporal speech perception areas, which are assumed to be active during AVH. We tested this hypofrontal/hypertemporal reversal theory by investigating anatomical, neurotransmitter, brain activity, and network connectivity changes over the course of tDCS treatment.

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Human immunoglobulin heavy chain (IGH) locus on chromosome 14 includes more than 40 functional copies of the variable gene (IGHV), which are critical for the structure of antibodies that identify and neutralize pathogenic invaders as a part of the adaptive immune system. Because of its highly repetitive sequence composition, the IGH locus has been particularly difficult to assemble or genotype when using standard short-read sequencing technologies. Here, we introduce ImmunoTyper-SR, an algorithmic tool for the genotyping and CNV analysis of the germline IGHV genes on Illumina whole-genome sequencing (WGS) data using a combinatorial optimization formulation that resolves ambiguous read mappings.

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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the pandemic respiratory infectious disease COVID-19. However, clinical manifestations and outcomes differ significantly among COVID-19 patients, ranging from asymptomatic to extremely severe, and it remains unclear what drives these disparities. Here, we studied 159 sequentially enrolled hospitalized patients with COVID-19-associated pneumonia from Brescia, Italy using the VirScan phage-display method to characterize circulating antibodies binding to 96,179 viral peptides encoded by 1,276 strains of human viruses.

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Purpose: To describe a case of late spontaneous postradial keratotomy corneal perforation after scleral contact lens (SCL) wear for optic correction.

Setting: Tertiary referral center for corneal pathology.

Design: Case report.

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Multisystem Inflammatory Syndrome in Children (MIS-C) is a systemic inflammatory condition that follows SARS-CoV2 infection or exposure in children. Clinical presentations are highly variable and include fever, gastrointestinal (GI) disease, shock, and Kawasaki Disease-like illness (MIS-C/KD). Compared to patients with acute COVID, patients with MIS-C have a distinct immune signature and expansion of expressing T cells.

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Background: Throughout the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, healthcare workers (HCWs) have faced risk of infection from within the workplace via patients and staff as well as from the outside community, complicating our ability to resolve transmission chains in order to inform hospital infection control policy. Here we show how the incorporation of sequences from public genomic databases aided genomic surveillance early in the pandemic when circulating viral diversity was limited.

Methods: We sequenced a subset of discarded, diagnostic SARS-CoV-2 isolates between March and May 2020 from Boston Medical Center HCWs and combined this data set with publicly available sequences from the surrounding community deposited in GISAID with the goal of inferring specific transmission routes.

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Dysregulation in neutrophil extracellular trap (NET) formation and degradation may play a role in the pathogenesis and severity of COVID-19; however, its role in the pediatric manifestations of this disease, including multisystem inflammatory syndrome in children (MIS-C) and chilblain-like lesions (CLLs), otherwise known as "COVID toes," remains unclear. Studying multinational cohorts, we found that, in CLLs, NETs were significantly increased in serum and skin. There was geographic variability in the prevalence of increased NETs in MIS-C, in association with disease severity.

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