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1.
Sex Transm Dis ; 51(2): 90-95, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38100815

RESUMO

INTRODUCTION: Profound sexual health disparities exist for Black men who have sex with men (MSM) in the US South, including a high prevalence of sexually transmitted infections (STIs). Sexually transmitted infection prevention strategies beyond condoms are needed for Black MSM taking preexposure prophylaxis (PrEP). METHODS: We conducted in-depth interviews with Black MSM taking PrEP in New Orleans, Louisiana. Informed by the Health Belief Model, we asked about participants' perceived susceptibility, severity, and concerns regarding STIs, and perceived benefits of STI prevention. We also asked about willingness to use various STI prevention strategies, including antibiotic prophylaxis. Interviews were audio-recorded and analyzed using applied thematic analysis. RESULTS: We interviewed 24 Black MSM aged 18 to 36 years; half had a recent STI diagnosis. Most participants were concerned about receiving an STI diagnosis, noting shame or disappointment; physical effects were concerning but infrequently considered. Participants described being less likely to use condoms with routine partners or those taking PrEP. Most reported being willing to engage in each of the 6 prevention strategies discussed. CONCLUSIONS: Black MSM taking PrEP voiced concern about STIs, and many noted that they infrequently use condoms. They were willing to engage in methods focused on preventing STIs on an individual or population level.


Assuntos
Infecções por HIV , Profilaxia Pré-Exposição , Minorias Sexuais e de Gênero , Infecções Sexualmente Transmissíveis , Masculino , Humanos , Homossexualidade Masculina , Infecções por HIV/epidemiologia , Infecções por HIV/prevenção & controle , Nova Orleans , Infecções Sexualmente Transmissíveis/epidemiologia , Infecções Sexualmente Transmissíveis/prevenção & controle , Profilaxia Pré-Exposição/métodos
2.
J Rheumatol ; 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38825350

RESUMO

OBJECTIVE: This study explored the reproductive journeys of women with vasculitis, including their conversations with healthcare providers, disease activity, medication changes, and delivery experiences. METHODS: Interviews were conducted with women registered in the Vasculitis Pregnancy Registry (VPREG), an online patient-reported registry of pregnant women with vasculitis. A team of physicians, patients, and qualitative researchers developed a qualitative interview guide. Participant responses were evaluated using thematic analysis. RESULTS: Eighteen patients with vasculitis who had experienced pregnancy were interviewed (10 antineutrophil cytoplasmic antibody-associated vasculitis, 4 Takayasu arteritis, 2 Behçet disease, 1 IgA vasculitis, 1 relapsing polychondritis). Thematic analysis revealed common experiences in the decision-making process during pregnancy planning, including accessing information from multiple sources, communicating with medical professionals, and changing treatment for vasculitis. Women sought information about vasculitis and pregnancy from various sources, including social media; however, opinions from their physicians and family members were most influential. Patients were more likely than providers to initiate conversations regarding family planning. Balancing differing opinions from subspecialists was challenging as many patients recalled acting as a liaison between multiple physicians during pregnancy. The need for self-advocacy was a common experience among patients. Most women had pregnancies that resulted in live births with delivery at term. CONCLUSION: When making decisions about pregnancy, women of reproductive age with vasculitis used multiple resources. Patients consistently valued their medical provider's opinion over alternative sources of information. To ensure comprehensive medical care, half of women relied on self-advocacy to coordinate communication among subspecialists. Most women had pregnancies that resulted in live births with delivery at term.

3.
BMC Womens Health ; 24(1): 218, 2024 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-38570779

RESUMO

BACKGROUND: Daily oral pre-exposure prophylaxis (PrEP) is an effective HIV prevention option for those who are most vulnerable to HIV infection, especially young women (YW). Objection by or lack of support from male sexual partners has been shown to impact YW's ability to take PrEP consistently. We explored the views of YW, and male partners and male peers of YW in Siaya County, Western Kenya, to illustrate how men influence, and can support, YW in using PrEP. METHODS: We used Photovoice to capture the views of YW ages 18-24 who were currently or previously enrolled in the DREAMS program and with current or previous experience taking PrEP. We also captured the views of YW's sexual partners and male peers. The YW completed eight photo assignments that focused on identifying factors influencing their PrEP use, and male participants completed four photo assignments focused on identifying ways men support or hinder YW's PrEP use. Photographs were presented and discussed in same- and mixed-gender groups using the SHOWeD method. YW also participated in in-depth interviews. The analysis focused on identifying themes that described men's influence on YW's PrEP adherence and persistence. RESULTS: Among YW, a restricting male influence on PrEP use emerged in the majority of photo assignments such that YW's photographs and discussions revealed that men were more often viewed as barriers than supporters. YW perceived that they had little autonomy over their sexual lives and choice to use PrEP. YW's PrEP use was perceived to be hindered by stigmatizing community narratives that influenced men's support of PrEP use among women. Male participants suggested that men would support YW's PrEP use if PrEP was better promoted in the community and if men were more knowledgeable about its benefits. CONCLUSIONS: A lack of support from male partners and peers and stigmatizing community narratives influence YW's PrEP use. Community-based programs should include education about PrEP specifically for male partners and peers of YW to positively influence PrEP use among YW.


Assuntos
Fármacos Anti-HIV , Infecções por HIV , Humanos , Masculino , Feminino , Infecções por HIV/prevenção & controle , Infecções por HIV/tratamento farmacológico , Fármacos Anti-HIV/uso terapêutico , Quênia , Homens , Comportamento Sexual
4.
Harm Reduct J ; 21(1): 69, 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38532395

RESUMO

BACKGROUND: People who inject drugs (PWID) are at high risk for opioid overdose and infectious diseases including HIV. We piloted PARTNER UP, a telemedicine-based program to provide PWID with medication for opioid use disorder (MOUD) with buprenorphine/naloxone (bup/nx) and oral pre-exposure prophylaxis (PrEP) with tenofovir disoproxil fumarate/emtricitabine through two syringe services programs (SSP) in North Carolina. We present overall results from this project, including participant retention rates and self-reported medication adherence. METHODS: Study participants met with a provider for an initial in-person visit at the SSP, followed by weekly telemedicine visits in month 1 and then monthly until program end at month 6. Participants were asked to start both MOUD and PrEP at initiation but could choose to discontinue either at any point during the study. Demographics and health history including substance use, sexual behaviors, and prior use of MOUD/PrEP were collected at baseline. Follow-up surveys were conducted at 3- and 6-months to assess attitudes towards MOUD and PrEP, change in opioid use and sexual behaviors, and for self-reported medication adherence. Participant retention was measured by completion of visits; provider notes were used to assess whether the participant reported continuation of medication. RESULTS: Overall, 17 persons were enrolled and started on both bup/nx and PrEP; the majority self-identified as white and male. At 3 months, 13 (76%) remained on study; 10 (77%) reported continuing with both MOUD and PrEP, 2 (15%) with bup/nx only, and 1 (8%) with PrEP only. At 6 months, 12 (71%) remained on study; 8 (67%) reported taking both bup/nx and PrEP, and 4 (33%) bup/nx only. Among survey participants, opioid use and HIV risk behaviors decreased. Nearly all reported taking bup/nx daily; however, self-reported daily adherence to PrEP was lower and declined over time. The most common reason for not continuing PrEP was feeling not at risk for acquiring HIV. CONCLUSIONS: Our study results show that MOUD and PrEP can be successfully administered via telemedicine in SSPs. PrEP appears to be a lower priority for participants with decreased continuation and adherence. Low perception of HIV risk was a reason for not continuing PrEP, possibly mitigated by MOUD use. Future studies including helping identify PWID at highest need for PrEP are needed. TRIAL REGISTRATION: Providing Suboxone and PrEP Using Telemedicine, NCT04521920. Registered 18 August 2020. https://clinicaltrials.gov/study/NCT04521920?term=mehri%20mckellar&rank=2 .


Assuntos
Fármacos Anti-HIV , Infecções por HIV , Transtornos Relacionados ao Uso de Opioides , Profilaxia Pré-Exposição , Abuso de Substâncias por Via Intravenosa , Humanos , Masculino , Fármacos Anti-HIV/uso terapêutico , Combinação Buprenorfina e Naloxona/uso terapêutico , Infecções por HIV/prevenção & controle , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico , Projetos Piloto , Abuso de Substâncias por Via Intravenosa/tratamento farmacológico , Feminino
5.
Health Expect ; 25(3): 1029-1037, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35246906

RESUMO

INTRODUCTION: Better transparency of research results and participant engagement may help address poor participant accrual in paediatric clinical research. We conducted formative research to assess the acceptability of lay summaries and thank you notes, as well as to refine and expand guidance on participant and family engagement in Pediatric Trials Network's (PTN) pragmatic paediatric clinical research. METHODS: Informed by draft PTN guidance, we conducted in-depth qualitative interviews with adolescent clinical trial participants and caregivers of paediatric participants in four trials conducted by PTN across eight sites. Participants were shown multiple versions of mock lay summaries and thank you notes and asked questions on their preferences for content and layout, and on trial communications. We used applied thematic analysis to analyse the data. RESULTS: We interviewed 27 individuals engaged in PTN research: 24 caregivers and 3 adolescents. During a trial, participants want regular updates on study progress, reminders of the study purpose and reassurances of data confidentiality. After the trial, participants want to learn the aggregated results, particularly medication effectiveness. Participants reported that lay summaries should include a review of the study's purpose, methods and length, and that they expect to learn individual-level results. Participants stated that thank you notes must be of sufficient length to be meaningful. CONCLUSIONS: This is the first study to describe stakeholder preferences for thank you note content and layout. Using these findings, we finalized PTN's trial communication guidance for use in future PTN trials. Research is needed to determine the effect of lay summaries and thank you notes on improving public transparency regarding clinical trials and paediatric trial recruitment and completion. PATIENT OR PUBLIC CONTRIBUTION: By design, stakeholders (adolescent trial participants and caregivers of pediatric trial participants) contributed to PTN's guidance on the content and layout of lay summaries and thank you notes through their participation in the in-depth interviews.


Assuntos
Cuidadores , Comunicação , Ensaios Clínicos Pragmáticos como Assunto , Adolescente , Humanos
6.
Harm Reduct J ; 19(1): 132, 2022 12 03.
Artigo em Inglês | MEDLINE | ID: mdl-36463214

RESUMO

BACKGROUND: People who inject drugs (PWID) are at risk for HIV and opioid overdose. We piloted PARTNER UP, a telemedicine-based program to provide PWID with access to both oral pre-exposure prophylaxis (PrEP) for HIV prevention and medication for opioid use disorder (MOUD) through two syringe services programs (SSPs) in North Carolina. We conducted a qualitative evaluation to assess the acceptability and feasibility of PARTNER UP from the participant perspective. METHODS: PARTNER UP participants met with a provider for an initial in-person visit at the SSP, followed by weekly telemedicine visits in month 1 and then monthly telemedicine visits until program end at month 6. Using a qualitative descriptive study design, we conducted in-depth interviews with a subsample of PARTNER UP participants at 1 month and 4 months. Informed by the technology acceptance model, we assessed participant perceptions of the usefulness and ease of use of PARTNER UP, as well as their intent to continue to use the program's components. We audio-recorded all interviews with participants' permission and used applied thematic analysis to analyze the verbatim transcripts. RESULTS: We interviewed 11 of 17 people who participated in PARTNER UP-10 in the month 1 interview and 8 in the month 4 interview. Nearly all participants were motivated to join for consistent and easy access to buprenorphine/naloxone (i.e., MOUD); only a few joined to access PrEP. Most were comfortable accessing healthcare at the SSP because of their relationship with and trust toward SSP staff, and accessing services at the SSP was preferred compared with other healthcare centers. Some participants described that telemedicine allowed them to be honest and share more information because the visits were not in-person and they chose the location, although the initial in-person meeting was helpful to build provider trust and rapport. Most participants found the visit schedule to be feasible, although half described needing to reschedule at least once. Nearly all participants who were interviewed intended to continue with MOUD after the program ended, whereas none were interested in continuing with PrEP. CONCLUSIONS: Participant narratives suggest that the PARTNER UP telemedicine program was acceptable and feasible. Future studies should continue to explore the benefits of embedding both PrEP and MOUD into SSPs with larger numbers of participants. Trial registration Clinicaltrials.gov Identifier: NCT04521920.


Assuntos
Infecções por HIV , Transtornos Relacionados ao Uso de Opioides , Abuso de Substâncias por Via Intravenosa , Telemedicina , Humanos , Combinação Buprenorfina e Naloxona/uso terapêutico , Estudos de Viabilidade , Infecções por HIV/prevenção & controle , Abuso de Substâncias por Via Intravenosa/complicações , Seringas
7.
J Relig Health ; 61(2): 1207-1225, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35034253

RESUMO

As an occupational group, clergy exhibit numerous physical health problems. Given the physical health problems faced by clergy, understanding where physical health falls within the priorities of seminary students, the ways students conceptualize physical health, and how seminary students do or do not attend to their physical health in the years immediately prior to becoming clergy, can inform intervention development for both seminary students and clergy. Moreover, understanding and shaping the health practices of aspiring clergy may be particularly impactful, with cascading effects, as clergy serve as important role models for their congregants. Drawing on 36 in-depth, qualitative interviews with first-year seminary students, this study examines the complex dynamics between religious frameworks related to physical health, explicit intentions to maintain healthy practices, and reported physical health behaviors. Our findings suggest that even students who deploy religious frameworks in relation to their physical health-and who, as a result, possess positive intentions to implement and maintain healthy behaviors-often report being unable to live up to their aspirations, especially in the face of barriers to health practices posed by the seminary program itself. After reviewing these findings, we offer suggestions for physical health focused interventions, including action and coping planning, which could be implemented at seminaries to reduce the intention-behavior gap and improve clergy health.


Assuntos
Clero , Estudantes , Humanos , Instituições Acadêmicas
8.
Mol Ecol ; 29(16): 3103-3116, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32640084

RESUMO

A phylogenetically diverse array of fungi live within healthy leaf tissue of dicotyledonous plants. Many studies have examined these endophytes within a single plant species and/or at small spatial scales, but landscape-scale variables that determine their community composition are not well understood, either across geographic space, across climatic conditions, or in the context of host plant phylogeny. Here, we evaluate the contributions of these variables to endophyte beta diversity using a survey of foliar endophytic fungi in native Hawaiian dicots sampled across the Hawaiian archipelago. We used Illumina technology to sequence fungal ITS1 amplicons to characterize foliar endophyte communities across five islands and 80 host plant genera. We found that communities of foliar endophytic fungi showed strong geographic structuring between distances of 7 and 36 km. Endophyte community structure was most strongly associated with host plant phylogeny and evapotranspiration, and was also significantly associated with NDVI, elevation and solar radiation. Additionally, our bipartite network analysis revealed that the five islands we sampled each harboured significantly specialized endophyte communities. These results demonstrate how the interaction of factors at large and small spatial and phylogenetic scales shapes fungal symbiont communities.


Assuntos
Micobioma , Biodiversidade , DNA Fúngico/genética , Endófitos/genética , Fungos/genética , Havaí , Humanos , Micobioma/genética , Havaiano Nativo ou Outro Ilhéu do Pacífico , Filogenia , Folhas de Planta
9.
Clin Trials ; 15(1_suppl): 13-18, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29452520

RESUMO

The mission of the Clinical Trials Transformation Initiative, a public-private partnership co-founded by the U.S. Food and Drug Administration and Duke University, is to develop and drive adoption of practices that will increase the quality and efficiency of clinical trials. The Clinical Trials Transformation Initiative works collaboratively with key stakeholders, implements "fit-for-purpose" evidence-gathering projects, and develops actionable recommendations and tools to address the challenges faced by the clinical trials enterprise. In pursuit of its mission, The Clinical Trials Transformation Initiative follows an innovative and collaborative, five-step methodology: (1) state the problem and identify impediments to research, (2) gather evidence to identify gaps and barriers, (3) explore results by analyzing and interpreting findings, (4) finalize solutions by developing recommendations and tools, and (5) drive adoption through disseminating and implementing recommendations and tools. This article describes each step of the Clinical Trials Transformation Initiative's methodology, with a specific focus on describing the evidence-gathering activities.


Assuntos
Ensaios Clínicos como Assunto/normas , Melhoria de Qualidade/normas , Confiabilidade dos Dados , Interpretação Estatística de Dados , Humanos , Disseminação de Informação , Estados Unidos , United States Food and Drug Administration
10.
AIDS Behav ; 20(11): 2682-2691, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-26945585

RESUMO

CAPRISA 008, an open-label extension study of tenofovir gel with coitally-related dosing, provided an opportunity to explore the relationship between product adherence and gender dynamics in a context where women knew they were receiving an active product with evidence of HIV prevention effectiveness. Interviews with 63 CAPRISA 008 participants and 13 male partners in KwaZulu-Natal, South Africa, highlighted that the process of negotiating gel use was determined in part by relationship dynamics including the duration of the relationship, the living situation, an evaluation of the relationship (e.g., partner intimacy and relationship expectations) and culturally-defined steps for formalizing the relationship. While disclosure facilitated adherence for many, others reported using the gel effectively with no disclosure, and in some situations disclosure was a barrier to adherence. Women should be supported in their choice about what to disclose and have opportunity to use this and similar products without their partners' knowledge or acquiescence.


Assuntos
Fármacos Anti-HIV/administração & dosagem , Identidade de Gênero , Infecções por HIV/prevenção & controle , Infecções por HIV/psicologia , Relações Interpessoais , Adesão à Medicação/psicologia , Profilaxia Pré-Exposição , Autorrevelação , Tenofovir/administração & dosagem , Adolescente , Adulto , Feminino , Géis , Humanos , Masculino , Negociação , Fatores Sexuais , África do Sul
11.
Proc Natl Acad Sci U S A ; 110(52): 20871-7, 2013 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-21576468

RESUMO

We review the global dynamics of livestock disease over the last two decades. Our imperfect ability to detect and report disease hinders assessment of trends, but we suggest that, although endemic diseases continue their historic decline in wealthy countries, poor countries experience static or deteriorating animal health and epidemic diseases show both regression and expansion. At a mesolevel, disease is changing in terms of space and host, which is illustrated by bluetongue, Lyme disease, and West Nile virus, and it is also emerging, as illustrated by highly pathogenic avian influenza and others. Major proximate drivers of change in disease dynamics include ecosystem change, ecosystem incursion, and movements of people and animals; underlying these are demographic change and an increasing demand for livestock products. We identify three trajectories of global disease dynamics: (i) the worried well in developed countries (demanding less risk while broadening the circle of moral concern), (ii) the intensifying and market-orientated systems of many developing countries, where highly complex disease patterns create hot spots for disease shifts, and (iii) the neglected cold spots in poor countries, where rapid change in disease dynamics is less likely but smallholders and pastoralists continue to struggle with largely preventable and curable livestock diseases.


Assuntos
Doenças dos Bovinos/epidemiologia , Doenças Transmissíveis Emergentes/veterinária , Surtos de Doenças/veterinária , Ecossistema , Gado , Animais , Bovinos , Doenças Transmissíveis Emergentes/epidemiologia , Países Desenvolvidos , Países em Desenvolvimento/economia , Notificação de Doenças/estatística & dados numéricos , Dinâmica Populacional , Fatores Socioeconômicos
12.
Mycologia ; 108(6): 1165-1174, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27621286

RESUMO

Four species of mycenoid fungi are reported as luminescent (or putatively luminescent) on the basis of specimens collected from São Paulo State, Brazil. Two of them represent new species (Mycena oculisnymphae, Resinomycena petarensis), and two represent new reports of luminescence in previously described species (M. deformis, M. globulispora). Comprehensive descriptions, illustrations, photographs, and comparisons with phenetically similar species are provided. Sequences of nuc rDNA internal transcribed spacer regions were generated for barcoding purposes and for comparisons with similar species.


Assuntos
Agaricales/classificação , Agaricales/isolamento & purificação , Agaricales/química , Agaricales/crescimento & desenvolvimento , Brasil , Análise por Conglomerados , Código de Barras de DNA Taxonômico , DNA Fúngico/química , DNA Fúngico/genética , DNA Espaçador Ribossômico/química , DNA Espaçador Ribossômico/genética , Luminescência , Microscopia , Filogenia
13.
Am J Med Genet C Semin Med Genet ; 169(3): 265-80, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26235940

RESUMO

Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial deletions. Because of this heterogeneity, we take a gene by gene approach to understanding the clinical consequences. There are 196 genes on 18q. We classified 133 of them as dosage insensitive, 15 (8%) as dosage sensitive leading to haploinsufficiency while another 10 (5%) have effects that are conditionally haploinsufficient and are dependent on another factor, genetic or environmental in order to cause an abnormal phenotype. Thirty-seven genes (19%) have insufficient information to classify their dosage effect. Phenotypes attributed to single genes include: congenital heart disease, minor bone morphology changes, central nervous system dysmyelination, expressive speech delay, vesicouretreral reflux, polyposis, Pitt-Hopkins syndrome, intellectual disability, executive function impairment, male infertility, aural atresia, and high frequency sensorineural hearing loss. Additionally, identified critical regions for other phenotypes include: adolescent idiopathic scoliosis and pectus excavatum, Virchow-Robin perivascular spaces, small corpus callosum, strabismus, atopic disorders, mood disorder, IgA deficiency, nystagmus, congenital heart disease, kidney malformation, vertical talus, CNS dysmyelination growth hormone deficiency and cleft palate. Together these findings make it increasingly feasible to compile an individualized syndrome description based on each person's individuated genotype. Future work will focus on understanding molecular mechanisms leading to treatment.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Anormalidades Múltiplas/etiologia , Adolescente , Genótipo , Humanos , Masculino , Fenótipo
14.
Am J Med Genet C Semin Med Genet ; 169(3): 251-64, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26250845

RESUMO

Since 18p- was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype-specific anticipatory guidance and recommendations to families with an 18p- diagnosis. In addition, establishing the molecular underpinnings of the condition will potentially suggest targets for molecular treatments. Thus, the next step is to establish the precise effects of specific gene deletions. As we look forward to deepening our understanding of 18p-, our focus will continue to be on the establishment of robust genotype-phenotype correlations and the penetrance of these phenotypes. We will continue to follow our 18p- cohort closely as they age to determine the presence or absence of some of these diagnoses, including spinocerebellar ataxia (SCA), facioscapulohumeral muscular dystrophy (FSHD), and dystonia. We will also continue to refine the critical regions for other phenotypes as we enroll additional (hopefully informative) participants into the research study and as the mechanisms of the genes in these regions are elucidated. Mouse models will also be developed to further our understanding of the effects of hemizygosity as well as to serve as models for treatment development.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Anormalidades Múltiplas/etiologia , Animais , Genótipo , Humanos , Camundongos , Fenótipo
15.
Hum Genet ; 133(2): 199-209, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24092497

RESUMO

Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions of 18q are particularly heterogeneous, with no two people having the same breakpoints. We identified 16 individuals with deletions that, despite unique breakpoints, encompass the same set of genes within a 17.6-Mb region. This group represents the most genotypically similar group yet identified with distal 18q deletions. As the deletion is of average size when compared with other 18q deletions, this group can serve as a reference point for the clinical and molecular description of this condition. We performed a thorough medical record review as well as a series of clinical evaluations on 14 of the 16 individuals. Common functional findings included developmental delays, hypotonia, growth hormone deficiency, and hearing loss. Structural anomalies included foot anomalies, ear canal atresia/stenosis, and hypospadias. The majority of individuals performed within the low normal range of cognitive ability but had more serious deficits in adaptive abilities. Of interest, the hemizygous region contains 38 known genes, 26 of which are sufficiently understood to tentatively determine dosage sensitivity. Published data suggest that 20 are unlikely to cause an abnormal phenotype in the hemizygous state and five are likely to be dosage sensitive: TNX3, NETO1, ZNF407, TSHZ1, and NFATC. A sixth gene, ATP9B, may be conditionally dosage sensitive. Not all distal 18q- phenotypes can be attributed to these six genes; however, this is an important advance in the molecular characterization of 18q deletions.


Assuntos
Caderinas/genética , Deleção Cromossômica , Cromossomos Humanos Par 18/genética , Serpinas/genética , Adaptação Psicológica , Adolescente , Adulto , Síndrome de Asperger/genética , Transtorno Autístico/genética , Criança , Pré-Escolar , Transtornos Cromossômicos/genética , Mapeamento Cromossômico , Estudos de Coortes , Feminino , Dosagem de Genes , Genótipo , Humanos , Cariotipagem , Estudos Longitudinais , Masculino , Fenótipo , Texas , Adulto Jovem
16.
Pain Med ; 15(3): 418-24, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24033875

RESUMO

BACKGROUND: Low back pain is a common cause of chronic pain in human immunodeficiency virus (HIV)-infected patients. The American College of Physicians and American Pain Society guidelines for diagnostic imaging in low back pain are difficult to apply to patients with chronic illnesses like HIV who may have risk factors for cancer or compression fractures, but whether imaging all such patients for low back pain improves outcomes is unknown. OBJECTIVE: Our objective was to describe patients referred to a chronic pain-focused HIV/palliative care clinic (HPCC) with back pain and their associated lumbar spine imaging findings. METHODS: We conducted a retrospective chart review of patients at a palliative care clinic that sees patients with HIV, most of whom have chronic pain. Charts with a diagnosis of low back pain were cross-referenced with an imaging database and any magnetic resonance imaging (MRI) of the lumbar spine with or without contrast were identified. RESULTS: Seventy-six of 137 patients referred to the HPCC were found to have back pain. These patients were mainly young (median age 45, interquartile range 40-51) with well-controlled HIV. Twenty-two (29%) of these patients had an MRI of the lumbar spine, and 11 (50%) of these warranted follow-up, most of whom had degenerative disc disease, including four with findings concerning for malignancy. DISCUSSION: This is the first study to explore the role of spinal imaging in HIV-infected patients. In our study, four patients had findings concerning for malignancy. These findings suggest that spinal imaging should be considered in the work up of HIV-infected patients with moderate to severe back pain.


Assuntos
Infecções por HIV/complicações , Dor Lombar/epidemiologia , Dor Lombar/terapia , Vértebras Lombares/cirurgia , Cuidados Paliativos , Adulto , Doença Crônica , Diagnóstico por Imagem , Feminino , Humanos , Dor Lombar/complicações , Vértebras Lombares/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
17.
Mycologia ; 106(3): 456-63, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24871608

RESUMO

Pseudobaeospora wipapatiae is described as new based on material collected in alien wet habitats on the island of Hawaii. Unique features of this beautiful species include deep ruby-colored basidiomes with two-spored basidia, amyloid cheilocystidia and a hymeniderm pileipellis with abundant pileocystidia that is initially deep ruby in KOH then changes to lilac gray. Phylogenetic analysis of nuclear large ribosomal subunit sequence data suggest a close relationship between Pseudobaeospora and Tricholoma. BLAST comparisons of internal transcribed spacer and 5.8S nuclear ribosomal subunit regions sequence data reveal greatest similarity with existing sequences of Pseudobaeospora species. A comprehensive description, color photograph, illustrations of salient micromorphological features and comparisons with phenetically similar taxa are provided.


Assuntos
Agaricales/classificação , Agaricales/isolamento & purificação , Agaricales/química , Agaricales/genética , Cor , Ecossistema , Havaí , Ilhas , Dados de Sequência Molecular , Filogenia , Esporos Fúngicos/classificação , Esporos Fúngicos/genética , Esporos Fúngicos/crescimento & desenvolvimento , Esporos Fúngicos/isolamento & purificação
18.
Mycologia ; 106(1): 86-94, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23945541

RESUMO

Phylogenetic placement of the infrageneric section Hygrometrici (genus Marasmius sensu stricto) in prior molecular phylogenetic studies have been unresolved and problematical. Molecular analyses based on newly generated ribosomal nuc-LSU and 5.8S sequences resolve members of section Hygrometrici to the family Physalacriaceae. The new genus Cryptomarasmius is proposed to accommodate members of Marasmius section Hygrometrici. Fourteen species belonging to section Hygrometrici whose available type specimens bear morphological features corresponding to the new genus are formally combined in Cryptomarasmius. Taxonomic transfers are made only for taxa in which type specimens have been studied and/or representative material sequenced. Although other species placed in section Hygrometrici may belong in Cryptomarasmius, further transfers are not proposed until additional studies on type material are conducted.


Assuntos
Agaricales/classificação , Agaricales/isolamento & purificação , Agaricales/genética , DNA Fúngico/genética , DNA Ribossômico/genética , Marasmius/classificação , Marasmius/genética , Marasmius/isolamento & purificação , Dados de Sequência Molecular , Filogenia , RNA Ribossômico 16S/genética
19.
Vet Rec ; 194(10): 402-403, 2024 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-38757884

RESUMO

An outstanding Tanzanian scientist in the field of veterinary epidemiology and One Health research.


Assuntos
Medicina Veterinária , Tanzânia , Medicina Veterinária/história , História do Século XXI , História do Século XX , Humanos , Saúde Única , Animais , Distinções e Prêmios
20.
AIDS Patient Care STDS ; 38(3): 144-150, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38471093

RESUMO

There is an unmet need for HIV prevention among Black cisgender women. From January to November 2020, we conducted formative research to develop locally informed implementation strategies to enhance pre-exposure prophylaxis (PrEP) uptake among Black cisgender women in New Orleans, Louisiana. Following an iterative process, we conducted in-depth interviews (IDIs) with Black women who were not taking PrEP and used those findings to inform IDIs with Black women taking PrEP. We asked about PrEP awareness, social support, PrEP-related norms, medical mistrust, motivation to take PrEP, and potential implementation strategies. Data were analyzed using applied thematic analysis. We established the Black Women and PrEP (BWAP) Task Force-a diverse group of 25 Black female community representatives who reviewed the IDI findings and identified strategies to address these determinants of PrEP uptake. We interviewed 12 Black women who were not taking PrEP and 13 Black women who were taking PrEP. Two main PrEP uptake barriers were identified from the IDI findings and Task Force discussions. First, Black women do not know of other Black women taking PrEP. Women perceived PrEP as a drug for gay men. Most said that testimonials from Black women taking PrEP would make its use more relatable. Second, Black women are not frequently offered PrEP by their providers. Many preferred accessing PrEP through women's health providers. The Task Force identified two strategies to address these barriers: a social media campaign for women and an educational initiative to train providers to discuss and prescribe PrEP. These implementation strategies require further study.


Assuntos
Fármacos Anti-HIV , Infecções por HIV , Profilaxia Pré-Exposição , Masculino , Humanos , Feminino , Infecções por HIV/tratamento farmacológico , Nova Orleans , Confiança , Fármacos Anti-HIV/uso terapêutico , Conhecimentos, Atitudes e Prática em Saúde , Louisiana
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