How respiratory symptoms impact asthma-related quality of life in severe asthmatics

peer reviewe

Provider Perceptions of Barriers to HIV Care Among Women with HIV in Miami-Dade County, Florida, and Possible Solutions: A Qualitative Study

In Miami-Dade County, women with HIV (WWH) enrolled in Ryan White Program (RWP) services belong to groups that have historically faced structural barriers to care. To examine provider perceptions of WWH\u27s barriers to care and elicit possible solutions, we conducted semi-structured interviews (n = 20) with medical case managers and human immunodeficiency virus (HIV) healthcare providers from medical case management sites serving WWH enrolled in the Miami-Dade RWP. Verbatim transcripts were analyzed thematically by two coders through an iterative process; disagreements were resolved through consensus. Barriers included lack of disclosure and stigma, additional psychosocial barriers to care, structural and logistical barriers, and negative interactions with health care providers. Participant suggestions to address these barriers included strategies that support women and foster individualized services that are responsive to their lived experiences and needs. Other solutions, such as those related to transportation, housing, and general funding for the RWP, will require advocacy and policy change

Tissue Resources for the Functional Annotation of Animal Genomes

In order to generate an atlas of the functional elements driving genome expression in domestic animals, the Functional Annotation of Animal Genome (FAANG) strategy was to sample many tissues from a few animals of different species, sexes, ages, and production stages. This article presents the collection of tissue samples for four species produced by two pilot projects, at INRAE (National Research Institute for Agriculture, Food and Environment) and the University of California, Davis. There were three mammals (cattle, goat, and pig) and one bird (chicken). It describes the metadata characterizing these reference sets (1) for animals with origin and selection history, physiological status, and environmental conditions; (2) for samples with collection site and tissue/cell processing; (3) for quality control; and (4) for storage and further distribution. Three sets are identified: set 1 comprises tissues for which collection can be standardized and for which representative aliquots can be easily distributed (liver, spleen, lung, heart, fat depot, skin, muscle, and peripheral blood mononuclear cells); set 2 comprises tissues requiring special protocols because of their cellular heterogeneity (brain, digestive tract, secretory organs, gonads and gametes, reproductive tract, immune tissues, cartilage); set 3 comprises specific cell preparations (immune cells, tracheal epithelial cells). Dedicated sampling protocols were established and uploaded in https://data.faang.org/protocol/samples. Specificities between mammals and chicken are described when relevant. A total of 73 different tissues or tissue sections were collected, and 21 are common to the four species. Having a common set of tissues will facilitate the transfer of knowledge within and between species and will contribute to decrease animal experimentation. Combining data on the same samples will facilitate data integration. Quality control was performed on some tissues with RNA extraction and RNA quality control. More than 5,000 samples have been stored with unique identifiers, and more than 4,000 were uploaded onto the Biosamples database, provided that standard ontologies were available to describe the sample. Many tissues have already been used to implement FAANG assays, with published results. All samples are available without restriction for further assays. The requesting procedure is described. Members of FAANG are encouraged to apply a range of molecular assays to characterize the functional status of collected samples and share their results, in line with the FAIR (Findable, Accessible, Interoperable, and Reusable) data principles

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Keratoprosthesis With Biocolonizable Microporous Fluorocarbon Haptic: Preliminary Results in a 24-Patient Study

BACKGROUND: Most complications of a keratoprosthesis occur at the tissue-to-implant interface. The ideal prosthesis would eliminate this interface by having the tissue actually grow into the supporting material. We present a prospective clinical human study of a novel biocolonizable keratoprosthesis in 24 eyes of 24 patients. DESIGN: To promote implant stability, the 9-mm—diameter haptic was fashioned using a custom-made microporous fluorocarbon with a 4-mm—diameter, 2.67-mm—long, central optic made of medical grade polymethylmethacrylate, giving a global visual field of 110° to 130°. Only bilaterally blind patients with untreatable corneal diseases were included in the study. The haptic was inserted into a lamellar pocket delaminated in the stroma, and the optic was positioned through a hole trephined in the central cornea. RESULTS: The average follow-up was 15.7 months (range, 4 to 28 months). The host corneal fibroblasts penetrated and proliferated into the peripheral microporous fluorocarbon and provided anchorage between the cornea and prosthesis. Seventeen patients (70.8%) had visual acuity improvements. Mean corrected final visual acuity was 20/100 (range, 20/30 to 20/400). Five anatomic failures occurred in the first 6 months (three extrusions, one dislocation of the optic, and one endophthalmitis). We had one case (4.1%) of treatable glaucoma. We successfully removed four of five retroprosthetic membranes that had occurred. No retinal detachment occurred. CONCLUSION: The biocompatible inert microporous polymer did not eliminate all mechanical complications associated with a keratoprosthesis

Response to trauma in Haitian youth at risk

In order to characterize undesirable behavior (drug use, fighting, criminal activity) among Haitian youth at risk and determine the relationship between traumatic experience and that kind of behavior, investigators recruited 292 Haitian youths via networks of informal social relations in two zones of Miami/Dade County strongly identified with Haitian ethnicity. Each recruit responded to an interview schedule eliciting sociodemographic information and self-reported activities, including involvement in youth-dominated groups. They also reported traumatic experience. Clinicians administered CAPS to a subset of those respondents who self reported traumatic experience. Staff ethnographers selected respondents for in-depth interviews and family studies to provide contextual depth for findings of the interview schedule and the CAPS assessments. Although traumatic experience may still play a role in mental health outcomes among children, childhood victimization among Haitian children does not appear to be related to the drug use and undesirable behaviors associated with unsupervised youth, including formation of gangs

HIV risk behavior and internalizing/externalizing psychopathology among adolescents in court-ordered treatment

Background: The confluence of drug use behaviors, sexual risk, and psychopathology may complicate human immunodeficiency virus (HIV) prevention intervention for adolescents engaging in substance use and criminal behavior. However, few studies have examined these risk associations. Objective: This study identified HIV risk behavior subgroups among adolescents in court-ordered substance abuse treatment and examined linkages with dimensions of internalizing and externalizing psychopathology. Methods: Internalizing and externalizing behaviors were assessed with the Millon Adolescent Clinical Inventory (MACI). Latent class analysis was used to identify subgroups on the basis of involvement in substance use proximal to sex, number of partners, and consistency of condom use. Results: Participants (n = 301) were identified as demonstrating high, medium, or low levels of sexual risk behavior. Greater externalizing psychopathology distinguished the high risk class from the medium risk class and from the low risk class. Conclusion: Detained youth with particularly serious oppositional-defiant behavioral characteristics, substance use, and sex risk behavior likely require intensive interventions that address the multiple systemic factors that contribute to the development and maintenance of this pattern