A Systematic Approach to Prioritise Diagnostically Useful Findings for Inclusion in Electronic Health Records as Discrete Data to Improve Clinical Artificial Intelligence Tools and Genomic Research.

Aims: The recent widespread use of electronic health records (EHRs) has opened the possibility for innumerable artificial intelligence (AI) tools to aid in genomics, phenomics, and other research, as well as disease prevention, diagnosis, and therapy. Unfortunately, much of the data contained in EHRs are not optimally structured for even the most sophisticated AI approaches. There are very few published efforts investigating methods for recording discrete data in EHRs that would not slow current clinical workflows or ways to prioritise patient characteristics worth recording.

Factors determining whether diffuse large B-cell lymphoma samples are detected by flow cytometry.

Introduction: Flow cytometry (FCM) is widely used in the diagnosis of mature B-cell neoplasms (MBN), and FCM data are usually consistent with morphological findings. However, diffuse large B-cell lymphoma (DLBCL), a common MBN, is sometimes not detected by FCM. This study aimed to explore factors that increase the likelihood of failure to detect DLBCL by FCM.

CCAD or eCRS: Defining Eosinophilic Subpopulations in Chronic Rhinosinusitis.

Background: Central compartment atopic disease (CCAD) and eosinophilic chronic rhinosinusitis (eCRS) are two clinical phenotypes of primary diffuse type 2 chronic rhinosinusitis (CRS) defined in the European Position Paper on Rhinosinusitis 2020 classification. Currently, the distinction between these subtypes relies on phenotypic features alone.

Objective: This study aimed to investigate whether eosinophil activation differed between CCAD and eCRS.

The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms.

The upcoming 5th edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours is part of an effort to hierarchically catalogue human cancers arising in various organ systems within a single relational database. This paper summarizes the new WHO classification scheme for myeloid and histiocytic/dendritic neoplasms and provides an overview of the principles and rationale underpinning changes from the prior edition. The definition and diagnosis of disease types continues to be based on multiple clinicopathologic parameters, but with refinement of diagnostic criteria and emphasis on therapeutically and/or prognostically actionable biomarkers.

Genetic Medicine for Hearing Loss: OTOF as Exemplar.

Millions of people worldwide have disabling hearing loss because one of their genes generates an incorrect version of some specific protein the ear requires for hearing. In many of these cases, delivering the correct version of the gene to a specific target cell within the inner ear has the potential to restore cochlear function to enable high-acuity physiologic hearing. Purpose: In this review, we outline our strategy for the development of genetic medicines with the potential to treat hearing loss.

Choice of vector and surgical approach enables efficient cochlear gene transfer in nonhuman primate.

Inner ear gene therapy using adeno-associated viral vectors (AAV) promises to alleviate hearing and balance disorders. We previously established the benefits of Anc80L65 in targeting inner and outer hair cells in newborn mice. To accelerate translation to humans, we now report the feasibility and efficiency of the surgical approach and vector delivery in a nonhuman primate model.

Comparison of flow cytometry with other modalities in the diagnosis of myelodysplastic syndrome.

Introduction: The myelodysplastic syndromes (MDSs) are heterogeneous myeloid malignancies, conventionally diagnosed by cytomorphology and cytogenetics, with an emerging role for flow cytometry. This study compared the performance of a 4-parameter flow cytometry scoring system, the Ogata Score, with other modalities in the diagnosis of MDS.

Methods: Bone marrow aspirate and trephine biopsies from 238 patients performed to assess for possible MDS were analysed, and the flow cytometry score was retrospectively applied.

Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.

Purpose: Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients.

Switching From Tenofovir Disoproxil Fumarate to Tenofovir Alafenamide for Human Immunodeficiency Virus Preexposure Prophylaxis at a Boston Community Health Center.

Background: Efforts to end the human immunodeficiency virus (HIV) epidemic may be threatened if limited preexposure prophylaxis (PrEP) resources are funneled from tenofovir disoproxil fumarate with emtricitabine (TDF/FTC) to tenofovir alafenamide with emtricitabine (TAF/FTC) without proportional clinical benefits.

Methods: The study population was patients at a Boston community health center who were assigned male sex at birth, aged ≥18 years, and prescribed TDF/FTC for PrEP in the 12 months before TAF/FTC approval (October 2019). We determined the frequency of switching to TAF/FTC in the 12 months after approval, including clinically indicated switching (ie, creatinine clearance <60 mL/minute or reduced bone density), potentially unnecessary switching (ie, no indications for switching and no cardiovascular risk factors), and potentially harmful switching (ie, no indications for switching and either obesity or dyslipidemia).

SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.

Sterile α motif domain-containing protein 9-like (SAMD9L) is encoded by a hallmark interferon-induced gene with a role in controlling virus replication that is not well understood. Here, we analyze SAMD9L function from the perspective of human mutations causing neonatal-onset severe autoinflammatory disease. Whole-genome sequencing of two children with leukocytoclastic panniculitis, basal ganglia calcifications, raised blood inflammatory markers, neutrophilia, anemia, thrombocytopaenia, and almost no B cells revealed heterozygous de novo mutations, p.

Brief Report: "I Didn't Really Have a Primary Care Provider Until I Got PrEP": Patients' Perspectives on HIV Preexposure Prophylaxis as a Gateway to Health Care.

Background: HIV prevention is the primary goal of preexposure prophylaxis (PrEP); however, ancillary benefits may exist, including PrEP as an entry point to primary care.

Objective: To explore PrEP users' perspectives on how PrEP use relates to broader engagement in health care.

Design: In-depth qualitative interviews.

Comparison of Sinonasal Histopathological Changes in Biological Treatment of Eosinophilic Chronic Rhinosinusitis.

Background: Biologic therapies such as mepolizumab and benralizumab are currently utilised in the treatment of eosinophilic asthma, and are emerging in the management of eosinophilic chronic rhinosinusitis (eCRS). These biologics inhibit the interaction of IL-5 with its receptor, thus impairing cytokine signalling and eosinophil inflammation. Mepolizumab does so by targeting IL-5, whereas benralizumab targets the α chain of the IL-5 receptor.

HIV Preexposure Prophylaxis and Sexual Satisfaction Among Men Who Have Sex With Men.

In this large online survey of primarily men who have sex with men, those who used preexposure prophylaxis reported greater sexual satisfaction than did nonusers, including sexual sensations, sexual presence/awareness, and sexual exchange. Person-centered care and messaging may require acknowledging that some people use preexposure prophylaxis for reasons beyond HIV prevention.

Evaluation of Diffuse Type 2 Dominant or Eosinophilic Chronic Rhinosinusitis With Corticosteroid Irrigation After Surgical Neosinus Cavity Formation.

Importance: Eosinophilic chronic rhinosinusitis (eCRS), contemporarily classified as diffuse type 2 dominant chronic rhinosinusitis (CRS), is characterized by eosinophil-dominant mucosal inflammation. Contemporary management of eCRS as an inflammatory airway condition is multimodal with corticosteroid irrigations after the surgical creation of a neosinus cavity.

Objectives: To assess long-term treatment outcomes in patients with primary diffuse type 2 CRS or eCRS receiving multimodal treatment.

COVID-19 Clinical Phenotypes: Presentation and Temporal Progression of Disease in a Cohort of Hospitalized Adults in Georgia, United States.

Background: The epidemiological features and outcomes of hospitalized adults with coronavirus disease 2019 (COVID-19) have been described; however, the temporal progression and medical complications of disease among hospitalized patients require further study. Detailed descriptions of the natural history of COVID-19 among hospitalized patients are paramount to optimize health care resource utilization, and the detection of different clinical phenotypes may allow tailored clinical management strategies.

Methods: This was a retrospective cohort study of 305 adult patients hospitalized with COVID-19 in 8 academic and community hospitals.

Intraocular solitary extramedullary plasmacytoma presenting as unilateral anterior and intermediate uveitis preceded by refractory glaucoma.

Background: Solitary extramedullary plasmacytoma (SEP) is a localised proliferation of monoclonal plasma cells involving soft tissue with no or minimal bone marrow involvement and no other systemic evidence of multiple myeloma. Intraocular involvement is exceedingly rare.

Case Presentation: We report a 78-year-old man who was referred with glaucoma in the right eye.

Patient-Led Decision-Making for HIV Preexposure Prophylaxis.

Purpose Of Review: Shared decision-making is a process that involves bidirectional exchange of information between patients and providers to support patients in making individualized, evidence-based decisions about their healthcare. We review the evidence on patient-led decision-making, a form of shared decision-making that maximizes patient autonomy, as a framework for decisions about HIV preexposure prophylaxis (PrEP). We also assess the likelihood that patient-led decision-making occurs for PrEP and describe interventions to facilitate this process.

Associations Among HIV Risk Perception, Sexual Health Efficacy, and Intent to Use PrEP Among Women: An Application of the Risk Perception Attitude Framework.

HIV risk perception is a known determinant of HIV prevention behaviors among vulnerable populations. Lesser known is the combined influence of risk perception and efficacy beliefs on PrEP use. We examined the associations between levels of risk perception and strength of efficacy beliefs on intent to use PrEP in a sample of adult Black and Latina women.

Systemic medication requirement in post-surgical patients with eosinophilic chronic rhinosinusitis.

Background: Eosinophilic chronic rhinosinusitis (eCRS) is contemporarily managed by surgical creation of a 'neo-sinus' cavity and corticosteroid irrigations. While most patients gain control of their disease with this approach, similar to preventive inhaler therapy in asthma, some patients need systemic therapies. This study aimed to define those patients needing ongoing systemic therapy for eCRS.