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1.
Epilepsy Behav ; 153: 109702, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38412570

RESUMO

BACKGROUND: Interventions focusing on epilepsy self-management (ESM) are vital for promoting the health of people living with epilepsy. E-technology and mobile health (mHealth) tools are becoming increasingly integrated into practice to promote self-management strategies for chronic diseases, enhance care delivery, and reduce health disparities. Management Information and Decision Support Epilepsy Tool (MINDSET), a bilingual decision support tool (available in English and Spanish), was found to be both feasible and effective in facilitating goal-based ESM in the clinic. PURPOSE: To assess the experience of using MINDSET as an ESM intervention among Hispanic patients with epilepsy to inform future interventional studies. METHODS: This study used a Qualitative Descriptive (QD) framework to provide a rich and straightforward description of patients' subjective experiences using MINDSET. Participants were enrolled in the intervention group of a larger parent study (RCT) to assess the efficacy of MINDSET among Hispanic People with Epilepsy (PWE). The purposive, convenient, criterion-based sample for this qualitative analysis comprised of 42 patients who agreed to participate in a semi-structured interview at the end of the larger RCT. This RCT was conducted between August 2017 and January 2019. Spanish and English-speaking Hispanic adult patients (n = 94) with epilepsy in Arizona (n = 53) and Texas (n = 41) were randomly assigned within 6 neurology clinics to treatment (MINDSET plus Usual Care, hereafter referred to as MINDSET; n = 46) and comparison (Usual Care Only; n = 48) conditions. RESULTS: Patient demographics, epilepsy conditions, and ESM behavioral characteristics were representative of the intervention group. Study participants were Hispanic, mainly of Mexican descent (94 %), with a mean age of 39 years, mostly female (53 %), and most of the participants reported having had one or more seizures per month (54 %). The MINDSET intervention revealed five ESM themes: (1) Awareness and Realization of Epilepsy Self-Management, (2) Communication and Partnership with Health Care Providers HCP, (3) Epilepsy Self-Management and Quality of Life, (4) Seizure Control, and (5) Optimism and Agency. CONCLUSION: The participants who used MINDSET as a self-management intervention reported an overall positive experience. Qualitative data in this study show that MINDSET is a valuable ESM tool for Hispanic patients with epilepsy. Findings from this qualitative study were consistent with results from a larger parent study that recognized MINDSET as an effective platform for improving epilepsy self-management adherence.


Assuntos
Epilepsia , Aplicativos Móveis , Autogestão , Telemedicina , Adulto , Humanos , Feminino , Masculino , Qualidade de Vida , Epilepsia/terapia , Convulsões , Hispânico ou Latino
2.
Am J Perinatol ; 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38537690

RESUMO

OBJECTIVE: Studies have suggested an association between prenatal care (PNC) and preterm birth (PTB). We evaluated trends in PTB and association of PNC and PTB. STUDY DESIGN: This was a retrospective cohort study of singleton, viable nonanomalous deliveries from 1991 to 2018. PNC utilization was defined by World Health Organization using number of visits: adequate (≥8), suboptimal (5-7), and inadequate (<5). Primary outcome was PTB. Tests of trend were used to assess changes in PTB over time. Baseline characteristics and outcomes were compared. Logistic regression estimated the association of PNC and PTB. We evaluated for effect modification by year of birth. RESULTS: Of 92,294 patients, 14,057 (15%) had PTB. Inadequate and suboptimal PNC were associated with higher odds of PTB compared to adequate PNC (adjusted odds ratios [aOR 6.21], 95% confidence interval [CI] 5.84-6.60; aOR 3.57, 95% CI 3.36-3.79). Inadequate PNC was associated with higher odds of PTB over time (effect modification p < 0.0001). Inadequate PNC was associated with 5.4 times higher odds of PTB in 1998, 7.0 times in 2008, and 9.1 times in 2018. CONCLUSION: Despite an increase in adequate PNC, there was a rise in PTB associated with inadequate and suboptimal PNC. PNC utilization was a stronger risk factor in recent years with higher PTB in patients who attended more than five PNC visits. KEY POINTS: · PNC utilization is associated with the risk of PTB.. · Despite an increase in PNC utilization, PTB rates have increased.. · There is an even stronger association between PNC utilization and PTB over time..

3.
Artigo em Inglês | MEDLINE | ID: mdl-38635223

RESUMO

Although experiences with police vary widely by race in the United States, many Americans expressed negative reactions to the murder of George Floyd by Minneapolis police in May 2020, which led to racially diverse protests for Floyd's justice. OBJECTIVE: This study assessed differences in Black and White Americans' reactions to the murder of George Floyd and the presence of White Americans at the subsequent protests for justice. METHOD: Black and White Americans (N = 290) took part in an online study in which they responded to questions regarding their reactions to the murder of George Floyd, the subsequent protests for justice, and critical knowledge (e.g., previous experiences with police and broad knowledge of Black history). RESULTS: Results of a preregistered study showed that Black (relative to White) Americans were more surprised by the extent of White participation in protests for justice. Also, Black Americans were more alarmed (i.e., emotionally jarred) by Floyd's murder. These differences in reactions were explained by Black (relative to White) Americans having more negative experiences with police brutality, both personally and among close others. CONCLUSION: This suggests that reactions to police brutality are experientially rooted, joining long-standing calls to center the lived experiences of Black Americans in psychological research. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

4.
Genet Med ; 25(8): 100879, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37154148

RESUMO

PURPOSE: The aim of this study was to assess the performance of cell-free DNA (cfDNA) screening to detect sex chromosome aneuploidies (SCAs) in an unselected obstetrical population with genetic confirmation. METHODS: This was a planned secondary analysis of the multicenter, prospective SNP-based Microdeletion and Aneuploidy RegisTry (SMART) study. Patients receiving cfDNA results for autosomal aneuploidies and who had confirmatory genetic results for the relevant sex chromosomal aneuploidies were included. Screening performance for SCAs, including monosomy X (MX) and the sex chromosome trisomies (SCT: 47,XXX; 47,XXY; 47,XYY) was determined. Fetal sex concordance between cfDNA and genetic screening was also evaluated in euploid pregnancies. RESULTS: A total of 17,538 cases met inclusion criteria. Performance of cfDNA for MX, SCTs, and fetal sex was determined in 17,297, 10,333, and 14,486 pregnancies, respectively. Sensitivity, specificity, and positive predictive value (PPV) of cfDNA were 83.3%, 99.9%, and 22.7% for MX and 70.4%, 99.9%, and 82.6%, respectively, for the combined SCTs. The accuracy of fetal sex prediction by cfDNA was 100%. CONCLUSION: Screening performance of cfDNA for SCAs is comparable to that reported in other studies. The PPV for the SCTs was similar to the autosomal trisomies, whereas the PPV for MX was substantially lower. No discordance in fetal sex was observed between cfDNA and postnatal genetic screening in euploid pregnancies. These data will assist interpretation and counseling for cfDNA results for sex chromosomes.


Assuntos
Ácidos Nucleicos Livres , Transtornos Cromossômicos , Teste Pré-Natal não Invasivo , Síndrome de Turner , Gravidez , Feminino , Humanos , Trissomia/diagnóstico , Trissomia/genética , Estudos Prospectivos , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Aberrações dos Cromossomos Sexuais , Aneuploidia , Cromossomos Sexuais/genética , Ácidos Nucleicos Livres/genética , Diagnóstico Pré-Natal/métodos
5.
Am J Obstet Gynecol ; 229(3): 300.e1-300.e9, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36965866

RESUMO

BACKGROUND: The clinical implications of nonreportable cell-free DNA screening results are uncertain, but such results may indicate poor placental implantation in some cases and be associated with adverse obstetrical and perinatal outcomes. OBJECTIVE: This study aimed to assess the outcomes of pregnancies with nonreportable cell-free DNA screening in a cohort of patients with complete genetic and obstetrical outcomes. STUDY DESIGN: This was a prespecified secondary analysis of a multicenter prospective observational study of prenatal cell-free DNA screening for fetal aneuploidy and 22q11.2 deletion syndrome. Participants who underwent cell-free DNA screening from April 2015 through January 2019 were offered participation. Obstetrical outcomes and neonatal genetic testing results were collected from 21 primary-care and referral centers in the United States, Europe, and Australia. The primary outcome was risk for adverse obstetrical and perinatal outcomes (aneuploidy, preterm birth at <28, <34, and <37 weeks' gestation, preeclampsia, small for gestational age or birthweight <10th percentile for gestational week, and a composite outcome that included preterm birth at <37 weeks, preeclampsia, small for gestational age, and stillbirth at >20 weeks) after nonreportable cell-free DNA screening because of low fetal fraction or other causes. Multivariable analyses were performed, adjusting for variables known to be associated with obstetrical and perinatal outcomes, nonreportable results, or fetal fraction. RESULTS: In total, 25,199 pregnant individuals were screened, and 20,194 were enrolled. Genetic confirmation was missing in 1165 (5.8%), 1085 (5.4%) were lost to follow-up, and 93 (0.5%) withdrew; the final study cohort included 17,851 (88.4%) participants who had cell-free DNA, fetal or newborn genetic confirmatory testing, and obstetrical and perinatal outcomes collected. Results were nonreportable in 602 (3.4%) participants. A sample was redrawn and testing attempted again in 427; in 112 (26.2%) participants, results were again nonreportable. Nonreportable results were associated with higher body mass index, chronic hypertension, later gestational age, lower fetal fraction, and Black race. Trisomy 13, 18, or 21 was confirmed in 1.6% with nonreportable tests vs 0.7% with reported results (P=.013). Rates of preterm birth at <28, 34, and 37 weeks, preeclampsia, and the composite outcome were higher among participants with nonreportable results, and further increased among those with a second nonreportable test, whereas the rate of small for gestational age infants was not increased. After adjustment for confounders, the adjusted odds ratios were 2.2 (95% confidence interval, 1.1-4.4) and 2.6 (95% confidence interval, 0.6-10.8) for aneuploidy, and 1.5 (95% confidence interval, 1.2-1.8) and 2.1 (95% confidence interval, 1.4-3.2) for the composite outcome after a first and second nonreportable test, respectively. Of the patients with nonreportable tests, 94.9% had a live birth, as opposed to 98.8% of those with reported test results (adjusted odds ratio for livebirth, 0.20 [95% confidence interval, 0.13-0.30]). CONCLUSION: Patients with nonreportable cell-free DNA results are at increased risk for a number of adverse outcomes, including aneuploidy, preeclampsia, and preterm birth. They should be offered diagnostic genetic testing, and clinicians should be aware of the increased risk of pregnancy complications.


Assuntos
Teste Pré-Natal não Invasivo , Pré-Eclâmpsia , Nascimento Prematuro , Lactente , Gravidez , Recém-Nascido , Humanos , Feminino , Pré-Eclâmpsia/diagnóstico , Pré-Eclâmpsia/epidemiologia , Pré-Eclâmpsia/genética , Nascimento Prematuro/epidemiologia , Nascimento Prematuro/genética , Placenta , Aneuploidia
6.
Ann Behav Med ; 57(9): 733-742, 2023 08 21.
Artigo em Inglês | MEDLINE | ID: mdl-37318273

RESUMO

BACKGROUND: Black women have the highest mortality from breast cancer compared with other racial/ethnic groups. Black women with breast cancer also evidence compromised quality of life in some domains. Culturally relevant aspects of their experience are understudied. PURPOSE: The goal of this qualitative study was to examine the relevance of the Strong Black Woman schema in the cancer context. METHODS: Three Gatherings (i.e., culturally curated focus groups) were conducted with Black women who had been diagnosed with breast cancer and recruited from cancer-related listservs and events. A five-person team conducted reflexive thematic analysis of Gathering transcripts. RESULTS: The 37 participants ranged in age (30 to 94 years) and in diagnosis duration (2 months to 29 years). Reflexive thematic analysis yielded six themes that characterized the women's experience: historical legacy of the Strong Black Woman, navigating intersecting Strong Black Woman identities, everyday challenges encountered on the battlefield by Strong Black Women, Strong Black Woman in action during the breast cancer journey, the complexities of seeking and accepting support, and the liberated Strong Black Woman. The schema's negative consequences included the oncologic team and others expecting the participants to be strong and not to need support. Expectations to suppress emotions and continue caring for others to the neglect of the self also were evident. Positive consequences included engaging in self-advocacy in the oncologic context and redefining strength to include expressing emotions and accepting help. CONCLUSIONS: The Strong Black Woman schema is highly relevant in the breast cancer context and could be addressed in culturally centered interventions.


Compared with other racial/ethnic groups, Black American women diagnosed with breast cancer have the highest death rate and some aspects of their quality of life is lower. The authors developed Project SOAR (Speaking Our African American Realities) to shed light on the experiences of Black American women diagnosed with breast cancer. In one Project SOAR study, 37 women took part in Gatherings­small group meetings conducted in an all-Black, all-woman space­in which they talked about the relevance of the Strong Black Woman (or Black Superwoman) concept during breast cancer. Arising from a history of enslavement, the concept involves suppressing emotions, always acting strong, taking care of others while neglecting care of oneself, and declining others' support. Gathering participants ranged in age (30 to 94 years) and time elapsed since diagnosis (2 months to 29 years). Their breast cancer experiences often corresponded with the Strong Black Woman concept. For example, some medical professionals and others expected them to act strong, to keep caring for others, not to need support, and not to voice their emotions during the cancer experience. Some women redefined strength to include expressing emotions and accepting help. The authors are developing resources for Black American women breast cancer survivors.


Assuntos
Neoplasias da Mama , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/psicologia , Qualidade de Vida/psicologia , Pesquisa Qualitativa , Emoções , Grupos Focais
7.
Prenat Diagn ; 43(13): 1574-1580, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-38066724

RESUMO

OBJECTIVE: One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management. METHODS: This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort. RESULTS: Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p < 0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p < 0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P < 0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p = 0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P < 0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p = 0.008). CONCLUSIONS: High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.


Assuntos
Ácidos Nucleicos Livres , Síndrome de DiGeorge , Gravidez , Lactente , Feminino , Humanos , Recém-Nascido , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Diagnóstico Pré-Natal , Testes Genéticos
8.
Qual Health Res ; 33(8-9): 753-764, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37212719

RESUMO

Black Americans face a multitude of problems in the healthcare system, including challenges during interactions with healthcare providers. The present study examined the quality of healthcare provider-Black patient interactions in a sample of Black American women with a breast cancer diagnosis. More specifically, the study examined potential contributors to Black Americans' current healthcare experiences and lack of trust by identifying their specific negative and positive encounters in the healthcare system. Three in-person Gatherings (i.e., culturally curated focus groups; N = 37) were conducted as part of a community-academic research partnership, Project SOAR (Speaking Our African American Realities). Four themes were identified through reflexive thematic analysis: Individual and Systemic Injustice Directed at Black Breast Cancer Survivors; Protecting Myself from an Untrustworthy Medical System; Stereotypes Interfered with My Care; and Good Care Should Include Compassion, Respect, Shared Decision Making, and Tailored Support. The present findings highlight the importance of addressing systemic and individual injustice toward Black Americans in healthcare settings generally, and Black women diagnosed with breast cancer specifically.


Assuntos
Negro ou Afro-Americano , Neoplasias da Mama , Relações Profissional-Paciente , Feminino , Humanos , Atenção à Saúde , Grupos Focais , Pessoal de Saúde
9.
Cancer ; 128(18): 3287-3296, 2022 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-35819253

RESUMO

BACKGROUND: Most Prostate Imaging-Reporting and Data System (PI-RADS) 3 lesions do not contain clinically significant prostate cancer (CSPCa; grade group ≥2). This study was aimed at identifying clinical and magnetic resonance imaging (MRI)-derived risk fac- tors that predict CSPCa in men with PI-RADS 3 lesions. METHODS: This study analyzed the detection of CSPCa in men who underwent MRI-targeted biopsy for PI-RADS 3 lesions. Multivariable logistic regression models with goodness-of-fit testing were used to identify variables associated with CSPCa. Receiver operating curves and decision curve analyses were used to estimate the clinical utility of a predictive model. RESULTS: Of the 1784 men reviewed, 1537 were included in the training cohort, and 247 were included in the validation cohort. The 309 men with CSPCa (17.3%) were older, had a higher prostate-specific antigen (PSA) density, and had a greater likelihood of an anteriorly located lesion than men without CSPCa (p < .01). Multivariable analysis revealed that PSA density (odds ratio [OR], 1.36; 95% confidence interval [CI], 1.05-1.85; p < .01), age (OR, 1.05; 95% CI, 1.02-1.07; p < .01), and a biopsy-naive status (OR, 1.83; 95% CI, 1.38-2.44) were independently associated with CSPCa. A prior negative biopsy was negatively associated (OR, 0.35; 95% CI, 0.24-0.50; p < .01). The application of the model to the validation cohort resulted in an area under the curve of 0.78. A predicted risk threshold of 12% could have prevented 25% of biopsies while detecting almost 95% of CSPCas with a sensitivity of 94% and a specificity of 34%. CONCLUSIONS: For PI-RADS 3 lesions, an elevated PSA density, older age, and a biopsy-naive status were associated with CSPCa, whereas a prior negative biopsy was negatively associated. A predictive model could prevent PI-RADS 3 biopsies while missing few CSPCas. LAY SUMMARY: Among men with an equivocal lesion (Prostate Imaging-Reporting and Data System 3) on multiparametric magnetic resonance imaging (mpMRI), those who are older, those who have a higher prostate-specific antigen density, and those who have never had a biopsy before are at higher risk for having clinically significant prostate cancer (CSPCa) on subsequent biopsy. However, men with at least one negative biopsy have a lower risk of CSPCa. A new predictive model can greatly reduce the need to biopsy equivocal lesions noted on mpMRI while missing only a few cases of CSPCa.


Assuntos
Neoplasias da Próstata , Biópsia , Humanos , Imageamento por Ressonância Magnética , Masculino , Antígeno Prostático Específico , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/diagnóstico por imagem , Estudos Retrospectivos , Fatores de Risco
10.
Am J Obstet Gynecol ; 227(1): 79.e1-79.e11, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35033576

RESUMO

BACKGROUND: Historically, prenatal screening has focused primarily on the detection of fetal aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy number variants, including 22q11.2 deletion syndrome (or DiGeorge syndrome), which is the most common microdeletion and a leading cause of congenital heart defects and neurodevelopmental delay. Although smaller studies have demonstrated the feasibility of screening for 22q11.2 deletion syndrome, large cohort studies with confirmatory postnatal testing to assess test performance have not been reported. OBJECTIVE: This study aimed to assess the performance of single-nucleotide polymorphism-based, prenatal cell-free DNA screening for detection of 22q11.2 deletion syndrome. STUDY DESIGN: Patients who underwent single-nucleotide polymorphism-based prenatal cell-free DNA screening for 22q11.2 deletion syndrome were prospectively enrolled at 21 centers in 6 countries. Prenatal or newborn DNA samples were requested in all cases for genetic confirmation using chromosomal microarrays. The primary outcome was sensitivity, specificity, positive predictive value, and negative predictive value of cell-free DNA screening for the detection of all deletions, including the classical deletion and nested deletions that are ≥500 kb, in the 22q11.2 low-copy repeat A-D region. Secondary outcomes included the prevalence of 22q11.2 deletion syndrome and performance of an updated cell-free DNA algorithm that was evaluated with blinding to the pregnancy outcome. RESULTS: Of the 20,887 women enrolled, a genetic outcome was available for 18,289 (87.6%). A total of 12 22q11.2 deletion syndrome cases were confirmed in the cohort, including 5 (41.7%) nested deletions, yielding a prevalence of 1 in 1524. In the total cohort, cell-free DNA screening identified 17,976 (98.3%) cases as low risk for 22q11.2 deletion syndrome and 38 (0.2%) cases as high risk; 275 (1.5%) cases were nonreportable. Overall, 9 of 12 cases of 22q11.2 were detected, yielding a sensitivity of 75.0% (95% confidence interval, 42.8-94.5); specificity of 99.84% (95% confidence interval, 99.77-99.89); positive predictive value of 23.7% (95% confidence interval, 11.44-40.24), and negative predictive value of 99.98% (95% confidence interval, 99.95-100). None of the cases with a nonreportable result was diagnosed with 22q11.2 deletion syndrome. The updated algorithm detected 10 of 12 cases (83.3%; 95% confidence interval, 51.6-97.9) with a lower false positive rate (0.05% vs 0.16%; P<.001) and a positive predictive value of 52.6% (10/19; 95% confidence interval, 28.9-75.6). CONCLUSION: Noninvasive cell-free DNA prenatal screening for 22q11.2 deletion syndrome can detect most affected cases, including smaller nested deletions, with a low false positive rate.


Assuntos
Ácidos Nucleicos Livres , Síndrome de DiGeorge , Feminino , Humanos , Recém-Nascido , Gravidez , Aneuploidia , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Diagnóstico Pré-Natal , Polimorfismo de Nucleotídeo Único
11.
Am J Obstet Gynecol ; 227(2): 259.e1-259.e14, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35085538

RESUMO

BACKGROUND: Cell-free DNA noninvasive prenatal screening for trisomies 21, 18, and 13 has been rapidly adopted into clinical practice. However, previous studies are limited by a lack of follow-up genetic testing to confirm the outcomes and accurately assess test performance, particularly in women at a low risk for aneuploidy. OBJECTIVE: To measure and compare the performance of cell-free DNA screening for trisomies 21, 18, and 13 between women at a low and high risk for aneuploidy in a large, prospective cohort with genetic confirmation of results STUDY DESIGN: This was a multicenter prospective observational study at 21 centers in 6 countries. Women who had single-nucleotide-polymorphism-based cell-free DNA screening for trisomies 21, 18, and 13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. The test performance and test failure (no-call) rates were assessed for the cohort, and women with low and high previous risks for aneuploidy were compared. An updated cell-free DNA algorithm blinded to the pregnancy outcome was also assessed. RESULTS: A total of 20,194 women were enrolled at a median gestational age of 12.6 weeks (interquartile range, 11.6-13.9). The genetic outcomes were confirmed in 17,851 cases (88.4%): 13,043 (73.1%) low-risk and 4808 (26.9%) high-risk cases for aneuploidy. Overall, 133 trisomies were diagnosed (100 trisomy 21; 18 trisomy 18; 15 trisomy 13). The cell-free DNA screen positive rate was lower in the low-risk vs the high-risk group (0.27% vs 2.2%; P<.0001). The sensitivity and specificity were similar between the groups. The positive predictive value for the low- and high-risk groups was 85.7% vs 97.5%; P=.058 for trisomy 21; 50.0% vs 81.3%; P=.283 for trisomy 18; and 62.5% vs 83.3; P=.58 for trisomy 13, respectively. Overall, 602 (3.4%) patients had no-call result after the first draw and 287 (1.61%) after including cases with a second draw. The trisomy rate was higher in the 287 cases with no-call results than patients with a result on a first draw (2.8% vs 0.7%; P=.001). The updated algorithm showed similar sensitivity and specificity to the study algorithm with a lower no-call rate. CONCLUSION: In women at a low risk for aneuploidy, single-nucleotide-polymorphism-based cell-free DNA has high sensitivity and specificity, positive predictive value of 85.7% for trisomy 21 and 74.3% for the 3 common trisomies. Patients who receive a no-call result are at an increased risk of aneuploidy and require additional investigation.


Assuntos
Ácidos Nucleicos Livres , Transtornos Cromossômicos , Síndrome de Down , Trissomia , Aneuploidia , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Humanos , Recém-Nascido , Nucleotídeos , Gravidez , Resultado da Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Prospectivos , Trissomia/diagnóstico , Trissomia/genética , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética
12.
BMC Infect Dis ; 22(1): 811, 2022 Oct 31.
Artigo em Inglês | MEDLINE | ID: mdl-36316633

RESUMO

BACKGROUND: The Meningitis/Encephalitis FilmArray® Panel (ME panel) was approved by the U.S. Food and Drug Administration in 2015 and provides rapid results when assessing patients with suspected meningitis or encephalitis. These patients are evaluated by various subspecialties including pediatric hospital medicine (PHM), pediatric emergency medicine (PEM), pediatric infectious diseases, and pediatric intensive care unit (PICU) physicians. The objective of this study was to evaluate the current use of the ME panel and describe the provider and subspecialty practice variation. METHODS: We conducted an online cross-sectional survey via the American Academy of Pediatrics Section of Hospital Medicine (AAP-SOHM) ListServe, Brown University PEM ListServe, and PICU Virtual pediatric system (VPS) Listserve. RESULTS: A total of 335 participants out of an estimated 6998 ListServe subscribers responded to the survey. 68% reported currently using the ME panel at their institutions. Among test users, most reported not having institutional guidelines on test indications (75%) or interpretation (76%). 58% of providers self-reported lack of knowledge of the test's performance characteristics. Providers from institutions that have established guidelines reported higher knowledge compared to those that did not (51% vs. 38%; p = 0.01). More PHM providers reported awareness of ME panel performance characteristics compared to PEM physicians (48% vs. 27%; p = 0.004); confidence in test interpretation was similar between both groups (72 vs. 69%; p = 0.80). CONCLUSION: Despite the widespread use of the ME panel, few providers report having institutional guidelines on test indications or interpretation. There is an opportunity to provide knowledge and guidance about the ME panel among various pediatric subspecialties.


Assuntos
Encefalite , Meningite , Médicos , Humanos , Criança , Estudos Transversais , Meningite/diagnóstico
13.
Prenat Diagn ; 42(10): 1235-1241, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35997139

RESUMO

OBJECTIVE: Prenatal chorionicity assessment relies on ultrasound, which can be confounded by many factors. Noninvasive assessment of zygosity is possible using single nucleotide polymorphism (SNP)-based cell-free DNA testing. Our objective was to determine the relationship between provider-reported chorionicity and SNP-cfDNA assignment of twin zygosity. METHODS: All twin pregnancy blood samples received by a reference laboratory between September 27, 2017 and September 8, 2021 were included. Chorionicity assignment was requested on the requisition, recorded as; monochorionic (MC), dichorionic, or "don't know". SNP-cfDNA zygosity results, monozygotic (MZ) or dizygotic (DZ), were correlated with chorionicity assignment. RESULTS: 59,471 twin samples (median gestational age = 12.0 weeks at draw) were received and analyzed; 55,344 (93.1%) received zygosity assignment. SNP-cfDNA reported 16,673 (30.1%) MZ and 38,671 (69.9%) as DZ. Provider-reported chorionicity was compared to the zygosity assignment for each case. Of 6283 provider-reported MC twins, 318 (5.1%) were reported as DZ using SNP-cfDNA. CONCLUSION(S): One in 20 suspected MC twin pregnancies were reported as DZ using SNP-cfDNA. Approximately 30% of 55,344 twin pregnancies were found to be MZ, including cases where chorionicity was unknown. SNP-cfDNA zygosity assessment is a useful adjunct assessment for twin pregnancies, particularly those reported as MC or without determined chorionicity.


Assuntos
Ácidos Nucleicos Livres , Gravidez de Gêmeos , Feminino , Humanos , Lactente , Gravidez , Córion , Polimorfismo de Nucleotídeo Único , Gravidez de Gêmeos/genética , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética
14.
Gen Dent ; 70(6): 52-58, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36288076

RESUMO

Periodontal disease affects 42% of adults in the United States. Both the periodontal microbiome and the host immune inflammatory response may be influenced by overweight/obesity status. This retrospective analysis sought to determine the associations of periodontal disease parameters with body mass index (BMI) and obesity status in patients undergoing periodontal maintenance therapy. The records of 418 patients who were undergoing periodontal maintenance after periodontitis treatment were examined, and the patients' demographic characteristics (sex, age, and race/ethnicity), self-reported BMI, periodontal disease condition, number of sites with probing depth ≥ 4 mm, missing teeth, and sites with bleeding on probing (BOP) were recorded. Patients were determined to have active moderate to severe periodontitis if they presented with 2 or more sites in 2 different quadrants with clinical attachment loss ≥ 5 mm and probing depth ≥ 5 mm. Individuals were also categorized into 3 groups: underweight/normoweight, BMI < 25; overweight, BMI 25 ≤ 30; or obese, BMI ≥ 30. In the study population, BMI ranged from 16.827 to 51.389. The periodontitis status was not significantly associated with a BMI status of overweight (odds ratio [OR] = 1.388 [95% CI, 0.961- 2.006]) or obese (OR = 1.168 [95% CI, 0.77-1.757]). Female sex (OR = 0.561 [95% CI, 0.343-0.918]) and age (OR = 0.983 [95% CI, 0.967-0.999]) were negatively associated with active periodontitis status. Obese patients demonstrated significantly more sites with BOP than either underweight/normoweight or overweight patients, and a BMI indicating obesity was associated with increasing age (P < 0.001) and higher number of missing teeth (P = 0.0064). In a population of patients undergoing periodontal maintenance therapy, BMI was associated with age and missing teeth, and obese status was associated with a significantly higher number of sites with BOP.


Assuntos
Doenças Periodontais , Periodontite , Perda de Dente , Adulto , Humanos , Feminino , Índice de Massa Corporal , Sobrepeso/complicações , Índice Periodontal , Estudos Retrospectivos , Magreza , Periodontite/complicações , Periodontite/terapia , Obesidade/complicações , Doenças Periodontais/complicações , Perda da Inserção Periodontal/complicações , Perda da Inserção Periodontal/epidemiologia
15.
Stroke ; 52(9): 2968-2971, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34320815

RESUMO

Background and Purpose: No data exists on whether proportional recovery (PR) is associated with health-related quality of life (HRQOL) domains. We evaluated whether PR was associated with domain-specific HRQOL scores at 3 months after ischemic stroke. Methods: This prospective cohort study enrolled patients with ischemic stroke between January 2017 and June 2018. Impaired strength was assessed using the Fugl-Meyer Upper Extremity (range, 0­66 points) and Motricity Index (range, 0­100 points) during index hospitalization and 3 months. Both measures are well-validated and reliable in patients with stroke to assesses motor functioning. PR (defined as 70% of difference between initial score and maximum possible recovery) was calculated from the initial measurements. HRQOL was measured using Neuro-QOL domains: upper extremity, depression, and cognition domains. PR was evaluated with HRQOL domains using binomial logistic regression. Results: Final analysis included 84 patients (mean age 67.8±16.4 years; 44% male; 51.2% White). For both Fugl-Meyer Upper Extremity and Motricity Index, the PR threshold was met for 48.8% of patients. Failure to meet Motricity Index PR was only associated with increased odds of HRQOL depression impairment (adjusted odds ratio, 11.8 [95% CI, 1.23­112.7]). Failure to meet Fugl-Meyer Upper Extremity PR threshold was not associated with HRQOL impairment after adjustment. Conclusions: Our findings suggest that reaching the PR threshold provides poor discrimination of HRQOL. Despite not meeting expected PR thresholds, patients can still maintain un-impaired HRQOL, suggesting other factors play a role in preserved HRQOL.


Assuntos
Qualidade de Vida , Recuperação de Função Fisiológica/fisiologia , Reabilitação do Acidente Vascular Cerebral/psicologia , Acidente Vascular Cerebral/psicologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Acidente Vascular Cerebral/fisiopatologia , Extremidade Superior/fisiopatologia
16.
J Surg Res ; 258: 224-230, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33032141

RESUMO

BACKGROUND: Understanding the differences between articles that amass a high number of citations and those that receive very few allows investigators to write journal articles that maximize the impact of their research. There are minimal data regarding these two cohorts in the cardiothoracic surgery literature. METHODS: We identified all primary research articles from 1998 to 2008 from The Journal of Thoracic and Cardiovascular Surgery, The Journal of Cardiac Surgery, The Annals of Thoracic Surgery, and The European Journal of Cardio-Thoracic Surgery (n = 4276). Eighty-seven of these articles accrued 0 or only 1 citation within 10 y of publication. We compared this "low citation" cohort to the "high citation" cohort made up of the 87 highest-cited articles from the same journals over the same time period. RESULTS: When compared with the low-citation articles, high-citation articles were significantly more likely to be clinical in nature (P < 0.0001), have observational study design (P < 0.0001), involve multidisciplinary authorship (P < 0.0001), and have more funding reported (P = 0.0039). With regard to technical aspects of the article, the high-citation articles were likely to have longer titles (P = 0.0086), punctuation in the title (P = 0.0027), longer abstracts (P = 0.0007), more words in the manuscript (P < 0.0001), more authors (P < 0.0001), more declared conflict of interests (P = 0.0167), more references (P < 0.0001), more tables (P < 0.0001), more figures (P = 0.0024), and more pages (P < 0.0001). There was no significant difference in the year of publication among both cohorts. CONCLUSIONS: This review suggests that there are several important distinguishing characteristics that should be considered by investigators when designing and implementing cardiothoracic research studies to maximize the impact of their published research.


Assuntos
Bibliometria , Cirurgia Torácica
17.
Prev Med ; 153: 106848, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34673080

RESUMO

Low socioeconomic position (SEP) across the lifecourse is associated with Type 2 diabetes (T2DM). We examined whether these economic disparities differ by race and sex. We included 5448 African American (AA) and white participants aged ≥45 years from the national (United States) REasons for Geographic and Racial Differences in Stroke (REGARDS) cohort without T2DM at baseline (2003-07). Incident T2DM was defined by fasting glucose ≥126 mg/dL, random glucose ≥200 mg/dL, or using T2DM medications at follow-up (2013-16). Derived SEP scores in childhood (CSEP) and adulthood (ASEP) were used to calculate a cumulative (CumSEP) score. Social mobility was defined as change in SEP. We fitted race-stratified logistic regression models to estimate the association between each lifecourse SEP indicator and T2DM, adjusting for covariates; additionally, we tested SEP-sex interactions. Over a median of 9.0 (range 7-14) years of follow-up, T2DM incidence was 167.1 per 1000 persons among AA and 89.9 per 1000 persons among white participants. Low CSEP was associated with T2DM incidence among AA (OR = 1.61; 95%CI 1.05-2.46) but not white (1.06; 0.74-2.33) participants; this was attenuated after adjustment for ASEP. In contrast, low CumSEP was associated with T2DM incidence for both racial groups. T2DM risk was similar for stable low SEP and increased for downward mobility when compared with stable high SEP in both groups, whereas upward mobility increased T2DM risk among AAs only. No differences by sex were observed. Among AAs, low CSEP was not independently associated with T2DM, but CSEP may shape later-life experiences and health risks.


Assuntos
Diabetes Mellitus Tipo 2 , Acidente Vascular Cerebral , Adulto , Diabetes Mellitus Tipo 2/epidemiologia , Humanos , Incidência , Pessoa de Meia-Idade , Fatores Raciais , Fatores de Risco , Fatores Socioeconômicos , Acidente Vascular Cerebral/epidemiologia , Estados Unidos/epidemiologia
18.
Int Urogynecol J ; 32(9): 2357-2363, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-32542466

RESUMO

INTRODUCTION AND HYPOTHESIS: To evaluate change in fecal incontinence symptom severity after 8 weeks of darifenacin therapy in patients with double incontinence-urgency urinary incontinence (UUI) and fecal incontinence. Important secondary outcomes included fecal incontinence symptom distress and impact on quality of life, fecal incontinence episodes, global impression of improvement and overactive bladder symptom distress and impact. METHODS: Prospective open-label cohort study of women presenting primarily with UUI, diagnosed with double incontinence and electing antimuscarinic therapy for UUI. Women ≥ 18 years with moderate or greater bothersome UUI and fecal incontinence of liquid/solid stool with St. Marks (Vaizey) score ≥ 12 were included. Subjects were treated with darifenacin 15 mg daily for 8 weeks. The primary outcome was change in fecal incontinence symptom severity using the St. Marks (Vaizey) score after 8 weeks. Sample size was based on the minimally important difference of the St. Marks, -5, and standard deviation, ± 8.5; 30 subjects provided 80% power and type I error of 0.05, including a 15% attrition rate. RESULTS: Thirty-two women were consented with mean baseline St. Marks (Vaizey) score of 18.0 ± 3.0. Mean age was 66.5 ± 10.3 years. Twenty-eight subjects (29/32, 87.5%) completed assessments. St. Marks (Vaizey) score significantly improved from 18.0 to 11.0 [mean difference - 7.0, 95% confidence interval (CI): -8.7, -5.3], and 19 subjects (19/32,67.9%) met the minimally important difference. Statistically significant improvements were also noted in fecal incontinence frequency, quality of life, and overactive bladder symptom bother and quality of life (all p < 0.01). CONCLUSIONS: Darifenacin can be considered a highly effective early intervention in women suffering from double incontinence. CLINICAL TRIAL REGISTRATION: Bladder Antimuscarinic Medication and Accidental Bowel Leakage (BAMA), https://clinicaltrials.gov/ct2/show/NCT03543566 , NCT03543566.


Assuntos
Incontinência Fecal , Bexiga Urinária Hiperativa , Incontinência Urinária , Idoso , Benzofuranos , Estudos de Coortes , Incontinência Fecal/tratamento farmacológico , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Pirrolidinas , Qualidade de Vida , Resultado do Tratamento , Bexiga Urinária Hiperativa/complicações , Bexiga Urinária Hiperativa/tratamento farmacológico , Incontinência Urinária de Urgência
19.
Int Urogynecol J ; 32(1): 75-80, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32712696

RESUMO

INTRODUCTION AND HYPOTHESIS: The current study aims to assess the continence rate of a "second primary" midurethral sling (MUS) in women with recurrent/persistent stress urinary incontinence (SUI) after sling excision compared to a historical cohort who underwent a repeat MUS. METHODS: A retrospective cohort study of women who underwent excision of a primary MUS and placement of a "second primary" MUS from 2009 to 2016 compared to a historical cohort who underwent a repeat MUS from 2006 to 2009. The primary outcome was continence rate, defined as "not at all" or "somewhat" to Urogenital Distress Inventory (UDI-6) SUI subscale questions. Secondary outcomes included assessment of symptom severity (UDI-6), symptom-specific quality of life, Incontinence Impact Questionnaire (IIQ-7), Medical and Epidemiologic Aspects of Aging (MESA), and Patient Global Impression of Improvement (PGI-I). RESULTS: Survey responses were available for 23/64 (36%) in the "second primary" MUS group versus 88/135 (65%) in the historical cohort. Mean follow-up in months, second primary: 41.8 ± 26.1 versus repeat: 36.2 ± 14.1, p = 0.16 and age (years): 56.4 ± 10.7 versus 59.8 ± 10.8, p = 0.19. Continence rates were 48% in "second primary" versus 56% in the repeat group (p = 0.50). Both groups had significant improvement in questionnaire scores postoperatively with no intergroup differences. Multivariable analysis demonstrated that odds of success did not differ between groups (adjusted odds ratio: 0.73, 95% confidence interval: 0.27-1.99). CONCLUSIONS: In women with recurrent/persistent SUI, repeat and "second primary" MUS procedures demonstrate similar success outcomes and improvement in UI symptom distress and QOL. Continued research is needed for this increasingly important clinical question.


Assuntos
Slings Suburetrais , Incontinência Urinária por Estresse , Feminino , Humanos , Qualidade de Vida , Estudos Retrospectivos , Resultado do Tratamento , Incontinência Urinária por Estresse/cirurgia
20.
Int Urogynecol J ; 32(3): 609-614, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32564122

RESUMO

INTRODUCTION AND HYPOTHESIS: The primary aim was to compare subjective treatment success among women in short-, mid-, and long-term follow-up after mid-urethral sling (MUS). Symptom severity, condition-specific quality of life (QOL), and patient satisfaction were also examined. METHODS: Women undergoing a primary MUS between 2001 and 2010 were identified by CPT code. Eligible subjects were mailed the Urogenital Distress Inventory (UDI-6), Pelvic Floor Impact Questionnaire (PFIQ-7), Patient Global Impression of Improvement (PGI-I), and Patient Satisfaction Questionnaire (PSQ). Follow-up intervals were short term (≤ 36 months), mid term (37-70 months), and long term (119-200 months). The primary outcome of treatment success was defined as responses of "not at all" or "somewhat" to both stress urinary incontinence (SUI) subscales on the UDI-6. RESULTS: Of 896 respondents, 361 were assessed in the short-term (23.3 ± 7.2 months), 251 in the mid-term (49.8 ± 9.1 months), and 284 in the long-term group (147.9 ± 20.6 months). Treatment success was 75.4% in the short-, 62.3% in the mid-, and 67.0% in the long-term groups (p < 0.01). Logistic regression showed women with mid- and long-term follow-up were nearly half as likely as their short-term counterparts to report treatment success (adjusted odds ratio [aOR] 0.51, 95% confidence interval [CI] 0.36, 0.74). UDI-6 and PFIQ-7 scores differed significantly among the short-, mid- and long-term groups (p < 0.01). Patient satisfaction was similar, 83.3% in the short-, 76.6% in the mid-, and 78.2% in the long-term follow-up (p = 0.31). CONCLUSION: Women with short-term follow-up had the highest subjective treatment success rates; mid- and long-term follow-up was lower, but sustained after 3 years. Symptom severity and impact on QOL were lowest in the short-term group. However, high satisfaction was noted across all groups.


Assuntos
Slings Suburetrais , Incontinência Urinária por Estresse , Incontinência Urinária , Feminino , Humanos , Qualidade de Vida , Estudos Retrospectivos , Resultado do Tratamento , Incontinência Urinária por Estresse/cirurgia
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