Patient experience of alpha-1 antitrypsin deficiency-associated liver disease: a qualitative study.

Purpose: To elicit the signs and/or symptoms, and impacts on daily living experienced by patients with alpha-1 antitrypsin deficiency-associated liver disease (AATD-LD).

Methods: A preliminary "concept list" of signs and/or symptoms, and impacts was developed from a targeted literature review, patient blog posts, and clinician interviews. Subsequently, one-to-one concept elicitation interviews involving English-speaking, US adults with AATD-LD and a protease inhibitor (Pi) ZZ or MZ genotype were conducted by trained interviewers following a central Institutional Review Board-approved discussion guide.

Diagnosis and Monitoring Pathways Using Non-Invasive Tests in Patients With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease: Results From an Expert Delphi Panel.

Background And Aims: The severe alpha-1 antitrypsin deficiency (AATD) genotype Pi*ZZ increases the risk of liver disease (AATD-LD) and lung disease. While non-invasive tests (NITs) are widely used for fibrosis stage and monitoring of all liver diseases, the consensus for use in AATD-LD is limited. A Delphi panel study was conducted to address this need.

Extra-central nervous system metastasis from high-grade glioma: a single-institution experience.

Purpose: Extra-central nervous system metastasis (ECM) from glioblastoma and other high-grade gliomas (HGGs) is exceedingly rare, likely due to central nervous system barriers and the short overall survival (OS) in HGG patients, limiting the timeframe for metastasis. Improved treatments have extended survival, potentially increasing ECM incidence, though mechanisms remain unclear.

Methods: This retrospective study examines HGG patients (n = 16) with ECM treated at The University of Texas M.

Leveraging artificial intelligence-mediated communication for cancer prevention and control and drug addiction: A systematic review.

Objective: To conduct a systematic review on Artificial Intelligence-Mediated Communication (AIMC) behavioral interventions in cancer prevention/control and substance use.

Methods: Eight databases were searched from 2017 to 2022 using the Population Intervention Control Outcome Study (PICOS) framework. We synthesized findings of AIMC-based interventions for adult populations in cancer prevention/control or substance use, applying SIGN Methodology Checklist 2 for quality assessments and reviewing retention and engagement.

Social determinants of mental health in asthma: an exploratory study.

Introduction: Asthma and mental health problems co-occur at high rates. In context of a holistic approach to health, considering the extent to which social determinants relate to mental health in people with asthma helps identify health inequity and inform population-level preventative strategies. The aim of the current exploratory study was to examine how social determinants are associated with depression, anxiety and resilience in people with mild-moderate and severe asthma.

Plasma Extracellular Vesicle-derived MicroRNA Associated with Human Alpha-1 Antitrypsin Deficiency-mediated Liver Disease.

Background And Aims: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder associated with liver disease, ranging from fibrosis to hepatocellular carcinoma. The disease remains asymptomatic until its final stages when liver transplantation is the only available therapy. Biomarkers offer an advantage for disease evaluation.

Forming N-heterocyclic carbene monolayers: not all deposition methods are the same.

N-Heterocyclic carbenes (NHCs) are unrivaled in their ability to form persistent and tunable monolayers on noble metal surfaces, with disciplines from heterogeneous catalysis to microelectronics fabrication rapidly adopting this technology. It is currently assumed that different NHC monolayer preparation protocols yield equivalent surfaces; however, a direct comparison of the leading synthetic protocols is yet to validate this assumption. Herein, we explore the binding of NHC ligands to gold (Au) surfaces prepared using the five most common NHC deposition methods and discover significant differences in the resulting monolayer composition and structure.

Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases.

Background: Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health teams. Modern dentistry encompasses a wide range of therapeutic options performed by specialists from different fields.

Closed-Loop Auditory Stimulation (CLAS) During Sleep Augments Language and Discovery Learning.

Slow oscillation (SO) brainwaves observed during sleep have been shown to reflect the process of memory consolidation, that underlies the critical role of sleep in learning, memory, and other cognitive functions. Closed-loop auditory stimulation (CLAS) uses tones presented in phase with SOs to increase their amplitude and number, along with other brainwave signatures related to memory consolidation. Prior studies have found that CLAS maximizes the ability to perform rote memorization tasks, although this remains controversial.

Osteochondritis Dissecans of the Capitellum: Influence of Activity on Lesion Location Within a Zone of Propensity.

Background: There may be an association between repetitive stress on the elbow and capitellar osteochondritis dissecans (COCD). The influence of activity on the characteristics or specific location of the lesion within a capitellar zone of propensity remains unclear.

Purpose/hypothesis: The purpose of this study was to evaluate COCD in gymnasts and baseball players compared with a non-upper extremity (non-UE) sport COCD cohort.

Liver Characterization of a Cohort of Alpha-1 Antitrypsin Deficiency Patients with and without Lung Disease.

Background And Aims: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by the misfolding and accumulation of the mutant variant of alpha-1 antitrypsin (AAT) within hepatocytes, which limits its access to the circulation and exposes the lungs to protease-mediated tissue damage. This results in progressive liver disease secondary to AAT polymerization and accumulation, and chronic obstructive pulmonary disease (COPD) due to deficient levels of AAT within the lungs. Our goal was to characterize the unique effects of COPD secondary to AATD on liver disease and gene expression.

Longitudinal Evaluation of Individuals With Severe Alpha-1 Antitrypsin Deficiency (Pi∗ZZ Genotype).

Background & Aims: Homozygous Pi∗Z mutation in alpha-1 antitrypsin (Pi∗ZZ genotype) predisposes to pulmonary loss-of-function and hepatic gain-of-function injury. To facilitate selection into clinical trials typically targeting only 1 organ, we systematically evaluated an international, multicenter, longitudinal, Pi∗ZZ cohort to uncover natural disease course and surrogates for future liver- and lung-related endpoints.

Methods: Cohort 1 recruited 737 Pi∗ZZ individuals from 25 different centers without known liver comorbidities who received a baseline clinical and laboratory assessment as well as liver stiffness measurement (LSM).

Tuning N-heterocyclic carbene wingtips to form electrochemically stable adlayers on metals.

Self-assembled monolayers (SAMs) are employed in electrochemical biosensors to passivate and functionalize electrode surfaces. These monolayers prevent the occurrence of undesired electrochemical reactions and act as scaffolds for coupling bioaffinity reagents. Thiols are the most common adlayer used for this application; however, the thiol-gold bond is susceptible to competitive displacement by naturally occurring solvated thiols in biological fluids, as well as to desorption under continuous voltage interrogation.

Improving nursing home safety through Adoption of a practical Resilient Health Care approach.

Nursing homes struggle with safety issues, despite decades of intervention. This may, in part, stem from a reliance on a historical perspective that views safety as an intrinsic part of well-designed systems, with errors resulting from knowable, fixable causes. A new perspective (Resilient Health Care) assumes, instead, that in complex systems such as nursing homes, uncertainties and trade-offs occur in the course of everyday work.

Improving Nursing Home Safety through Adoption of a Practical Resilient Health Care Approach.

Nursing homes struggle with safety issues, despite decades of intervention. This may, in part, stem from a reliance on a historical perspective that views safety as an intrinsic part of well-designed systems, with errors resulting from knowable, fixable causes. A new perspective (Resilient Health Care) assumes, instead, that in complex systems such as nursing homes, uncertainties and trade-offs occur in the course of everyday work.

Primary Care Considerations for the Adolescent Wrestler.

Purpose Of Review: Adolescent wrestlers undergo intense physical combat. While guidelines are effective in keeping the sport safer, concerns specific to the adolescent wrestler may be missed at primary care visits without knowledge of the unique challenges faced by these athletes. The following review highlights important characteristics of the adolescent wrestler which are of interest to primary care providers.

Physical capacity and inactivity in obstructive airway diseases: a "can do, do do" analysis.

Introduction: Physical capacity is an important determinant of physical activity in people with obstructive airway disease (OAD). This study aimed to extend the "can do, do do" concept in people with OAD, to identify if people categorised into quadrants based on physical capacity and activity differ by clinical and movement behaviour characteristics.

Methods: A total of 281 participants (bronchiectasis n=60, severe asthma n=93, COPD n=70 and control n=58) completed assessments to characterise physical capacity as "can do" "can't do" (6-min walk distance < or ≥70% pred) and physical activity as "do do" "don't do" (accelerometer-derived moderate to vigorous intensity physical activity (MVPA) < or ≥150 min·week).

Corrigendum to "Recommendations for a paradigm shift in approach to increase the recognition and treatment of sialorrhea in Parkinson's disease" [Clin. Parkinsonism Related Dis. 9 (2023) 100223].

[This corrects the article DOI: 10.1016/j.prdoa.

Fazirsiran for Adults With Alpha-1 Antitrypsin Deficiency Liver Disease: A Phase 2 Placebo Controlled Trial (SEQUOIA).

Background & Aims: Homozygous ZZ alpha-1 antitrypsin (AAT) deficiency produces mutant AAT (Z-AAT) proteins in hepatocytes, leading to progressive liver fibrosis. We evaluated the safety and efficacy of an investigational RNA interference therapeutic, fazirsiran, that degrades Z-AAT messenger RNA, reducing deleterious protein synthesis.

Methods: This ongoing, phase 2 study randomized 40 patients to subcutaneous placebo or fazirsiran 25, 100, or 200 mg.

Brain-age prediction: Systematic evaluation of site effects, and sample age range and size.

Structural neuroimaging data have been used to compute an estimate of the biological age of the brain (brain-age) which has been associated with other biologically and behaviorally meaningful measures of brain development and aging. The ongoing research interest in brain-age has highlighted the need for robust and publicly available brain-age models pre-trained on data from large samples of healthy individuals. To address this need we have previously released a developmental brain-age model.

Understanding Breathlessness Burden and Psychophysiological Correlates in Asthma.

Background: Breathlessness is a disabling symptom, with complexity that is often under-recognized and undertreated in asthma.

Objective: To highlight the burden of breathlessness in people with severe compared with mild-to-moderate asthma and identify psychophysiological correlates of breathlessness.

Methods: This was a cross-sectional study of people with mild-to-severe asthma, who attended 2 in-person visits to complete a multidimensional assessment.

Southern Africa's Great Escarpment as an amphitheater of climate-driven diversification and a buffer against future climate change in bats.

Hosting 1460 plant and 126 vertebrate endemic species, the Great Escarpment (hereafter, Escarpment) forms a semi-circular "amphitheater" of mountains girdling southern Africa from arid west to temperate east. Since arid and temperate biota are usually studied separately, earlier studies overlooked the biogeographical importance of the Escarpment as a whole. Bats disperse more widely than other mammalian taxa, with related species and intraspecific lineages occupying both arid and temperate highlands of the Escarpment, providing an excellent model to address this knowledge gap.

The illness burden of severe asthma contrasted to people with mild-to-moderate asthma: a qualitative study.

Background: Disabling symptoms of asthma including breathlessness, cough, wheeze and chest tightness largely impact quality of life; however, how these symptoms impact people with asthma of different severity levels remains unknown. This study aimed to compare and characterise patients' symptom experience and the burden caused, their quality of life, and the medication preferences of people with severe asthma against those of people with mild-to-moderate asthma.

Methods: This was a multisite qualitative study involving two focus groups and semistructured interviews of adults with severe asthma undertaken in Australia and UK.