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1.
Subst Abuse ; 17: 11782218231160014, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36968974

RESUMO

Objectives: People with substance use disorders (SUD) are suggested to have higher risk of hospitalization, intubation, or death from coronavirus disease 2019 (COVID-19), although data are mixed. Little is known about other COVID-19-related complications in this group. We compared morbidity and mortality among individuals with and without SUD who were admitted to an urban safety net hospital with COVID-19 early in the pandemic, contemporaneous to other published studies on this subject. Methods: We performed a retrospective study of patients ⩾18 years old admitted with COVID-19 from March 16th to April 8th, 2020. SUD included alcohol, opioid, cocaine, amphetamine, and benzodiazepine use disorders and was identified using diagnostic codes, free text clinical documentation, and urine drug screens. The primary outcome was inpatient mortality. Secondary outcomes included clinical complications (eg, secondary infections, venous thromboembolism) and resource utilization (eg, mechanical ventilation, length of stay). We used multivariable regression to assess the relationship between SUD and mortality. Results: Of 409 patients, the mean age was 56 years and 13.7% had SUD. Those with SUD were more likely to be male, have experienced homelessness, have pulmonary disease or hepatitis C, or use tobacco or cannabis. After multivariable analysis, SUD was not associated with mortality (aOR 1.03; 95% CI, 0.31-3.10). Secondary outcomes were also similar between groups. Conclusions: Our findings suggest that persons with and without SUD have similar COVID-19-related outcomes. Previously reported increased COVID-19 complications may be from medical comorbidities.

2.
Hum Genet ; 141(3-4): 387-400, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34811589

RESUMO

Structural variation includes a change in copy number, orientation, or location of a part of the genome. Copy number variants (CNVs) are a common cause of genetic hearing loss, comprising nearly 20% of diagnosed cases. While large deletions involving the gene STRC are the most common pathogenic CNVs, a significant proportion of known hearing loss genes also contain pathogenic CNVs. In this review, we provide an overview of currently used methods for detection of CNVs in genes known to cause hearing loss including molecular techniques such as multiplex ligation probe amplification (MLPA) and digital droplet polymerase chain reaction (ddPCR), array-CGH and single-nucleotide polymorphism (SNP) arrays, as well as techniques for detection of CNVs using next-generation sequencing data analysis including targeted gene panel, exome, and genome sequencing data. In addition, in this review, we compile published data on pathogenic hearing loss CNVs to provide an up-to-date overview. We show that CNVs have been identified in 29 different non-syndromic hearing loss genes. An understanding of the contribution of CNVs to genetic hearing loss is critical to the current diagnosis of hearing loss and is crucial for future gene therapies. Thus, evaluation for CNVs is required in any modern pipeline for genetic diagnosis of hearing loss.


Assuntos
Surdez , Perda Auditiva , Variações do Número de Cópias de DNA , Surdez/genética , Exoma , Perda Auditiva/diagnóstico , Perda Auditiva/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética
3.
J Acquir Immune Defic Syndr ; 84(1): 66-69, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-31977596

RESUMO

BACKGROUND: Women living with HIV (WLHIV) have a high risk of developing invasive anal cancer. Anal cancer may be prevented with early detection and treatment of anal histologic high-grade squamous intraepithelial lesions (HSIL). However, there are limited data on the efficacy of anal HSIL treatment in WLHIV. STUDY DESIGN: We conducted a retrospective study of WLHIV treated for anal HSIL under high-resolution anoscopy (HRA) guidance from January 1, 2007 to December 31, 2017 with at least one post-treatment visit at an urban tertiary care hospital. RESULTS: Forty-five WLHIV women with at least 1 follow-up evaluation after treatment for anal HSIL were identified. The median age was 46 years (range 35-66 years), 63% were African American, 27% were Hispanic/Latino, and 53% were current smokers. The mean absolute CD4 T-cell count was 516 cells/mm; 50% and 24% of the cohort had a history of cervical or vulvar HSIL respectively. The cumulative probability of anal HSIL recurrence was 29% at 12 months, 52% at 24 months, and 79% at 36 months post-treatment. CONCLUSION: Most WLHIV treated for anal HSIL recurred within 3 years, suggesting need for continued surveillance after treatment. Our data contribute to the information needed to develop effective anal cancer prevention guidelines in WLHIV.


Assuntos
Neoplasias do Ânus/patologia , Infecções por HIV/complicações , Recidiva Local de Neoplasia , Lesões Intraepiteliais Escamosas/patologia , Adulto , Neoplasias do Ânus/complicações , Feminino , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Lesões Intraepiteliais Escamosas/complicações
4.
Female Pelvic Med Reconstr Surg ; 24(2): 176-182, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29474294

RESUMO

OBJECTIVES: Obstetrics and gynecology residents are less prepared to perform vaginal hysterectomy (VH), despite its advantages over other hysterectomy routes. The American Congress of Obstetricians and Gynecologists and Council on Resident Education in Obstetrics and Gynecology have prioritized simulation training in VH. Our objective was to improve residents' understanding of surgical anatomy of VH using a resident-constructed, low-cost, low-fidelity model. METHODS: A single simulation session was held in November 2016. Residents constructed a pelvic model, guided by 2 surgeons. A pretest and a posttest were administered. Experienced-based responses were tabulated for frequencies and contents. Improvement on knowledge-based questions was assessed using McNemar's test. RESULTS: Of 20 residents, 16 completed the pretest and 14 (70%) completed pretests and posttests. One hundred percent of postgraduate year (PGY)-4 had performed greater than 10 VH (11-21) and 75% of PGY-3 had performed 5 to 12 VH. Although 75% of PGY-3 and 100% of PGY-4 felt comfortable performing VH, baseline knowledge of essential surgical anatomy of VH was low (65.8%). The PGY-3 and -4 group (n=8) experienced a mean improvement of 24.4% (mean pretest score 65.8% vs mean posttest score 90%; 95% confidence interval, +14.1% to +33.3%, P=0.0005). The PGY-1 and -2 groups (n=6) experienced a mean improvement of 43.3% (mean pretest score, 41.7% vs mean posttest score, 85%; 95% confidence interval, +26.7% to +59.2%, P=0.001). After the session, all residents reported improved understanding surgical anatomy of VH and "more hands-on sessions" was the most frequently requested teaching aid. CONCLUSIONS: Residents desire additional model-based simulation training in VH, and such structured, model-based simulations can identify and address gaps in resident knowledge of surgical anatomy of this important operation.


Assuntos
Genitália Feminina/anatomia & histologia , Ginecologia/educação , Histerectomia Vaginal/educação , Internato e Residência/métodos , Obstetrícia/educação , Treinamento por Simulação/métodos , Atitude do Pessoal de Saúde , Boston , Competência Clínica/normas , Feminino , Humanos , Internato e Residência/normas , Modelos Anatômicos , Órgãos em Risco
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