Lessons learned from 5 years of pegvaliase in US clinics: A case series.

Objective: To provide insights and strategies for pegvaliase management in challenging cases with phenylketonuria (PKU) based on the first 5 years of experience with pegvaliase in real-world clinical practice.

Methods: Twelve PKU experts gathered during a one-day, in-person meeting to discuss clinical cases illustrating important lessons from their experiences treating patients with pegvaliase in real-world clinical practice. Challenges with pegvaliase experienced prior to and during treatment and corresponding strategies to overcome them were discussed.

Preference for Long-Acting HIV Prevention Methods Among Transgender Women Vulnerable to HIV in Eastern and Southern United States: Findings from the LITE Study.

HIV incidence among transgender women remains high and disproportionately impacts young, Black, and Latina transgender women. Data on preferred PrEP modalities among this population are limited. Participants in The LITE Cohort completed a survey module on PrEP modality preferences during 24-month study visits.

Hierarchy, class, race and PPE in an American hospital in the early days of COVID-19: What the pandemic stress test can teach us about building equitable health systems.

Because hospitals are spaces where life and death are routinely at stake, social hierarchies, pressures, and cultural norms are heightened. This was particularly true in the early days of the COVID-19 pandemic. Examining the dynamics in that era can provide insight into the nature of race and hierarchy in hospital structures.

Hidden syndinian and perkinsid infections in dinoflagellate hosts revealed by single-cell transcriptomics.

Free-living core dinoflagellates are commonly infected by members of two parasitic clades that are themselves closely related to dinoflagellates, the marine alveolates and perkinsids. These parasites are abundant and ecologically important, but most species have been difficult to observe directly or cultivate, so our knowledge of them is usually restricted to environmental 18S rRNA gene sequences, as genome-scale molecular data are not available for most species. Here, we report the finding of several of these parasites infecting free-living dinoflagellates.

Matrisome proteomics reveals novel mediators of muscle remodeling with aerobic exercise training.

Skeletal muscle has a unique ability to remodel in response to stimuli such as contraction and aerobic exercise training. Phenotypic changes in muscle that occur with training such as a switch to a more oxidative fiber type, and increased capillary density contribute to the well-known health benefits of aerobic exercise. The muscle matrisome likely plays an important role in muscle remodeling with exercise.

Enhanced Cohort Methods for HIV Research and Epidemiology (ENCORE): Protocol for a Nationwide Hybrid Cohort for Transgender Women in the United States.

Background: In the United States, transgender women are disproportionately impacted by HIV and prioritized in the national strategy to end the epidemic. Individual, interpersonal, and structural vulnerabilities underlie HIV acquisition among transgender women and fuel syndemic conditions, yet no nationwide cohort monitors their HIV and other health outcomes.

Objective: Our objective is to develop a nationwide cohort to estimate HIV incidence, identify risk factors, and investigate syndemic conditions co-occurring with HIV vulnerability or acquisition among US transgender women.

What's different about digital? A qualitative interview study exploring experiences of adapting in-person behaviour change interventions for digital delivery.

Objectives: Digital health behaviour change interventions may be adapted from in-person interventions, without appropriate consideration of how the digital context might differ. Drawing on the wider literature on behaviour change intervention development, this research aims to explore the digital adaptation process of health behaviour change interventions and the specific considerations for digital modes of delivery.

Design: A qualitative interview study.

Morphology, behavior, and phylogenomics of Oxytoxum lohmannii, Dinoflagellata.

Dinoflagellates are an abundant and diverse group of protists representing a wealth of unique biology and ecology. While many dinoflagellates are photosynthetic or mixotrophic, many taxa are heterotrophs, often with complex feeding strategies. Compared to their photosynthetic counterparts, heterotrophic dinoflagellates remain understudied, as they are difficult to culture.

Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.

Vitamin D-dependent rickets type 1A (VDDR1A) is a rare condition caused by biallelic pathogenic variants in CYP27B1, which encodes 25-hydroxyvitamin D3-1-α-hydroxylase. Inadequate activity of this enzyme results in deficient 1α-hydroxylation of inactive 25-hydroxyvitamin D to biologically active 1,25-dihydroxyvitamin D, with consequent adverse effects on calcium and phosphate metabolism. A female child was clinically diagnosed at 18 months old with hypophosphatemic rickets based on phenotype and biochemical testing, with neither parent affected.

Food Insecurity Is High in a Multi-Site Cohort of Transgender Women Vulnerable to or Living with HIV in the Eastern and Southern United States: Baseline Findings from the LITE Cohort.

The prevalence and correlates of food insecurity-the unavailability of food and limited access to it-have not been adequately considered among transgender women (TW), particularly alongside other health-related conditions burdening this population, such as HIV infection. This study examined the prevalence and correlates of food insecurity among TW. Between 2018 and 2020, 1590 TW in the Eastern and Southern U.

Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.

Background: Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range that is safe for neurologic function. Elevated plasma Phe is a risk factor for congenital anomalies and developmental delay in offspring resulting from pregnancies with poor Phe control in women with PKU. Enzyme supplementation with pegvaliase allows adults with PKU to eat an unrestricted diet and have plasma Phe levels in a safe range for pregnancy but pegvaliase has not been approved for use in pregnant females with PKU.

Tucking Practices and Attributed Health Effects in Transfeminine Individuals.

Tucking is the gender-affirming practice of putting the penis and scrotum between the buttocks and moving the testes up into the inguinal canals. Our study explores tucking and health effects among transfeminine adults (=79). Most (74.

Access to healthcare among transgender women living with and without HIV in the United States: associations with gender minority stress and resilience factors.

Background: Transgender women (TW) experience significant inequities in healthcare access and health disparities compared to cisgender populations. Access to non-transition related healthcare is understudied among TW. We aimed to assess the association between access to care and gender minority stress and resilience factors among TW living with and without HIV in eastern and southern United States.

Prevalence of Sexually Transmitted Infections Among Transgender Women With and Without HIV in the Eastern and Southern United States.

Background: Data on the epidemiology of sexually transmitted infections (STIs) among transgender women (TGW) with and without human immunodeficiency virus (HIV) are limited.

Methods: We analyzed baseline data collected from a cohort of adult TGW across 6 eastern and southern US cities between March 2018 and August 2020 (n = 1018). Participants completed oral HIV screening, provided self-collected rectal and urogenital specimens for chlamydia and gonorrhea testing, and provided sera specimens for syphilis testing.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. The patient phenotypic spectrum includes developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities.

Biosynthesis of chlorophyll c in a dinoflagellate and heterologous production in planta.

Chlorophyll c is a key photosynthetic pigment that has been used historically to classify eukaryotic algae. Despite its importance in global photosynthetic productivity, the pathway for its biosynthesis has remained elusive. Here we define the CHLOROPHYLL C SYNTHASE (CHLCS) discovered through investigation of a dinoflagellate mutant deficient in chlorophyll c.

PrEP initiation and discontinuation among transgender women in the United States: a longitudinal, mixed methods cohort study.

Introduction: Transgender women in the United States experience high HIV incidence and suboptimal Pre-exposure prophylaxis (PrEP) engagement. We sought to estimate PrEP initiation and discontinuation rates and characterize PrEP discontinuation experiences among a prospective cohort of transgender women.

Methods: Using a sequential, explanatory, mixed-methods design, 1312 transgender women at risk for HIV acquisition were enrolled from March 2018 to August 2020 and followed through July 2022 (median follow-up 24 months; interquartile range 15-36).

Betrayal-Based Moral Injury and Mental Health Problems Among Healthcare and Hospital Workers Serving COVID-19 Patients.

One factor potentially driving healthcare and hospital worker (HHW)'s declining mental health during the COVID-19 pandemic is feeling betrayed by institutional leaders, coworkers, and/or others' pandemic-related responses and behaviors. We investigated whether HHWs' betrayal-based moral injury was associated with greater mental distress and post-traumatic stress disorder (PTSD) symptoms related to COVID-19. We also examined if these associations varied between clinical and non-clinical staff.

Multiple parallel origins of parasitic Marine Alveolates.

Microbial eukaryotes are important components of marine ecosystems, and the Marine Alveolates (MALVs) are consistently both abundant and diverse in global environmental sequencing surveys. MALVs are dinoflagellates that are thought to be parasites of other protists and animals, but the lack of data beyond ribosomal RNA gene sequences from all but a few described species means much of their biology and evolution remain unknown. Using single-cell transcriptomes from several MALVs and their free-living relatives, we show that MALVs evolved independently from two distinct, free-living ancestors and that their parasitism evolved in parallel.

Understanding the social and structural context of oral PrEP delivery: an ethnography exploring barriers and facilitators impacting transgender women who engage in street-based sex work in Baltimore, Maryland.

Transgender women who sell sex (TWSS) experience high rates of HIV acquisition. Antiretrovirals for pre-exposure prophylaxis (PrEP) represent an efficacious HIV prevention strategy. The social and structural factors affecting PrEP delivery amongst TWSS are underexplored in the literature.

Photosystems in the eye-like organelles of heterotrophic warnowiid dinoflagellates.

Warnowiid dinoflagellates contain a highly complex camera-eye-like structure called the ocelloid that is composed of different organelles resembling parts of metazoan eyes, including a modified plastid that serves as the retinal body. The overall structure of the ocelloid has been investigated by microscopy; because warnowiids are not in culture and are rare in nature, we know little about their function. Here, we generate single-cell transcriptomes from 18 warnowiid cells collected directly from the marine environment representing all 4 known genera and 1 previously undescribed genus, as well as 8 cells from a related lineage, the polykrikoids.