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1.
Ther Adv Neurol Disord ; 17: 17562864241258788, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39161955

RESUMO

Delirium is a common complication in acute stroke patients, occurring in 15-35% of all stroke unit admissions and is associated with prolonged hospital stay and a poor post-stroke prognosis. Managing delirium in acute stroke patients necessitates an intensive and multiprofessional therapeutic approach, placing a significant burden on healthcare staff. However, dedicated practical recommendations for delirium management developed for the population of acute stroke patients are lacking. For this purpose, the Austrian Stroke Society, in cooperation with the Austrian Society of Neurology, the Austrian Society of Neurorehabilitation, and the Austrian Society of Psychiatry, Psychotherapy, and Psychosomatics has formulated an evidence-based position paper addressing the management of delirium in acute stroke patients. The paper outlines practical recommendations on the three pillars of care in stroke patients with delirium: (a) Key aspects of delirium prevention including stroke-specific delirium risk factors and delirium prediction scores are described. Moreover, a non-pharmacological delirium prevention bundle is presented. (b) The paper provides recommendations on timing and frequency of delirium screening to ensure early diagnosis of delirium in acute stroke patients. Moreover, it reports on the use of different delirium screening tools in stroke populations. (c) An overview of non-pharmacological and pharmacological treatment strategies in patients with delirium and acute stroke is presented and summarized as key recommendation statements.

2.
J Autism Dev Disord ; 2024 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-38985370

RESUMO

COVID-19 required many research teams to shift from in-person to remote assessments, which posed both procedural and theoretical challenges. While research has explored the utility of remote assessments for autism diagnosis from the perspective of families and clinicians, less is known about their application in clinical trials. This paper describes the development of a remote research assessment protocol for a randomized clinical trial focusing on the implementation of reciprocal imitation teaching (RIT) with toddlers in Part C early intervention. This project spans two phases. For Phase 1, our team developed and documented a series of steps utilizing user-centered design (UCD) strategies (e.g., recruiting potential users, creating a prototype, engaging in iterative development) for the purpose of redesigning an assessment protocol for a remote environment. For Phase 2, we examined preliminary outcomes of the redesign process. Primary end users (assessors) rated post-redesign usability and acceptability, while acceptability was examined using attrition data from secondary end users (family participants). Preliminary fidelity of implementation was also examined. The iterative redesign process allowed the research team to refine aspects of the assessment that ultimately led to promising preliminary ratings of usability, acceptability, and feasibility, as well as high fidelity. Preliminary data suggest that the redesigned assessment appears to be an acceptable, feasible, and usable tool for autism clinical trial research and that assessors can use it with fidelity. Further research is needed to examine the reliability and validity of the assessment, as well as implementation characteristics on a larger scale.

3.
Ann Surg ; 280(3): 363-373, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-38869440

RESUMO

OBJECTIVE: To investigate fecal incontinence and defecatory, urinary, and sexual functional outcomes after transanal total mesorectal excision (taTME). BACKGROUND: Proctectomy for rectal cancer may result in alterations in defecatory, urinary, and sexual function that persist beyond 12 months. The recent multicenter phase II taTME trial demonstrated the safety of taTME in patients with stage I to III tumors. METHODS: Prospectively registered self-reported questionnaires were collected from 100 taTME patients. Fecal continence [Fecal Incontinence Quality of Life (FIQL), Wexner], defecatory function [Colorectal Functional Outcome (COREFO)], urinary function (International Prostate Symptom Score), and sexual function (Female Sexual Function Index-female, International Index of Erectile Function-male) were assessed preoperatively (PQ), 3 to 4 months postileostomy closure (FQ1), and 12 to 18 months post-taTME [postoperative questionnaire 2 (FQ2)]. RESULTS: Among 83 patients who responded at all 3 time points, FIQL, Wexner, and COREFO significantly worsened postileostomy closure. Between FQ1 and FQ2, FIQL lifestyle and coping, Wexner, and COREFO incontinence, social impact, frequency, and need for medication significantly improved, while FIQL depression and embarrassment did not change. International Prostate Symptom Score did not change relative to preoperative scores. For females, Female Sexual Function Index declined for desire, orgasm, and satisfaction between PQ and FQ1, and did not improve between FQ1 and FQ2. In males, International Index of Erectile Function declined with no change between FQ1 and FQ2. CONCLUSIONS: Although taTME resulted in initial decline in defecatory function and fecal continence, most functional domains improved by 12 months after ileostomy closure, without returning to preoperative status. Urinary function was preserved while sexual function declined without improvement by 18 months post-taTME. Our results address patient expectations and inform shared decision-making regarding taTME.


Assuntos
Incontinência Fecal , Protectomia , Qualidade de Vida , Neoplasias Retais , Humanos , Masculino , Feminino , Neoplasias Retais/cirurgia , Estudos Prospectivos , Pessoa de Meia-Idade , Idoso , Incontinência Fecal/etiologia , Protectomia/métodos , Protectomia/efeitos adversos , Complicações Pós-Operatórias , Resultado do Tratamento , Cirurgia Endoscópica Transanal/métodos , Adulto , Inquéritos e Questionários , Disfunções Sexuais Fisiológicas/etiologia
4.
Risk Anal ; 44(3): 521-535, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37350030

RESUMO

Microplastics are receiving growing attention in the public debate, while the scientific assessment of risks of microplastics to ecological and human health is still ongoing. Previous studies suggest concerns among the general public with country-specific differences. However, little is known about the reasoning underlying these concerns. By conducting qualitative interviews with German (n = 15) and Italian citizens (n = 15), this study adopted a cross-national perspective to investigate which concepts shape citizens' perceptions of microplastics. A qualitative content analysis was used, with coding categories and subcategories developed inductively. Results showed that interviewees formed assumptions around microplastics despite own uncertainties, transferred knowledge from macro- to microplastics, and used the concepts of accumulation and dose-response relationship to make sense of the topic. Moreover, they saw the domains of human health and the environment as intertwined and expressed helplessness when discussing solutions to the microplastics issue. Many themes on the topic were similar in both samples, but there were also some differences. For instance, whereas Italian participants talked about marine-related microplastics, German participants talked about airborne sources; also, German participants tended to recognize more strongly the actions their country was putting in place to address the problem. These findings underscore the need for proactive risk communication despite remaining gaps in scientific risk assessment. Beyond providing technical information, communicators should consider the reasoning behind risk perception on microplastics and address scientific uncertainty as well as the interconnectedness between the domains of human health and the environment.


Assuntos
Microplásticos , Plásticos , Humanos , Comunicação , Pesquisa Qualitativa , Itália
5.
Eur Stroke J ; 8(4): 1021-1029, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37658692

RESUMO

INTRODUCTION: Patent foramen ovale (PFO)-closure is recommended for stroke prevention in selected patients with suspected PFO-associated stroke. However, studies on cerebrovascular event recurrence after PFO-closure are limited by relatively short follow-up periods and information on the underlying aetiology of recurrent events is scarce. PATIENTS AND METHODS: All consecutive patients with a cerebral ischaemic event and PFO-closure at the University Hospital Graz were prospectively identified from 2004 to 2021. Indication for PFO-closure was based on a neurological-cardiological PFO board decision. Patients underwent standardized clinical and echocardiographic follow-up 6 months after PFO-closure. Recurrent cerebrovascular events were assessed via electronical health records. RESULTS: PFO-closure was performed in 515 patients (median age: 49 years; Amplatzer PFO occluder: 42%). Over a median follow-up of 11 years (range: 2-18 years, 5141 total patient-years), recurrent ischaemic cerebrovascular events were observed in 34 patients (ischaemic stroke: n = 22, TIA: n = 12) and associated with age, hyperlipidaemia and smoking in multivariable analysis (p < 0.05 each). Large artery atherosclerosis and small vessel disease were the most frequent aetiologies of recurrent stroke/TIA (27% and 24% respectively), and only two events were related to atrial fibrillation (AF). Recurrent ischaemic cerebrovascular event rates and incident AF were comparable in patients treated with different PFO occluders (p > 0.1). DISCUSSION AND CONCLUSION: In this long-term follow-up-study of patients with a cerebral ischaemic event who had received PFO-closure with different devices, rates of recurrent stroke/TIA were low and largely related to large artery atherosclerosis and small vessel disease. Thorough vascular risk factor control seems crucial for secondary stroke prevention in patients treated for PFO-related stroke.


Assuntos
Aterosclerose , Isquemia Encefálica , Forame Oval Patente , Ataque Isquêmico Transitório , Acidente Vascular Cerebral , Humanos , Pessoa de Meia-Idade , Acidente Vascular Cerebral/epidemiologia , Ataque Isquêmico Transitório/complicações , Isquemia Encefálica/epidemiologia , Forame Oval Patente/complicações , Resultado do Tratamento , Infarto Cerebral/complicações , Aterosclerose/epidemiologia
6.
Cardiol Young ; : 1-11, 2023 May 26.
Artigo em Inglês | MEDLINE | ID: mdl-37231612

RESUMO

Individuals born with congenital heart disease (CHD) are at an increased risk of developing neurodevelopmental disorders. Despite this, studies are limited in their investigation of autism spectrum disorder in the context of CHD. This review provides an overview of the literature examining autism spectrum disorder in CHD and discusses strengths, limitations, and future directions. Recent efforts have been made to extrapolate the association between CHD and symptoms of autism. Findings suggest that the core features of autism spectrum disorder are also implicated in children with CHD, namely social-cognitive weaknesses, pragmatic language differences, and social problems. Compared to norm-referenced samples, separate studies have identified divergent and overlapping neuropsychological profiles among both patient groups, yet there are no studies directly comparing the two groups. There is emerging evidence of prevalence rates of autism diagnosis in CHD showing an increased odds of having autism spectrum disorder among children with CHD relative to the general population or matched controls. There also appears to be genetic links to this overlap, with several genes identified as being tied to both CHD and autism. Together, research points to potentially shared underlying mechanisms contributing to the pathophysiology of neurodevelopmental, neuropsychological, and clinical traits in CHD and autism spectrum disorder. Future investigation delineating profiles across these patient populations can fill a significant gap in the literature and aid in treatment approaches to improve clinical outcomes.

7.
Eur Stroke J ; 8(2): 532-540, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37231701

RESUMO

BACKGROUND: Several blood biomarkers have been identified as predictors for poor outcome after ischemic stroke. However, recent studies mainly focused on single or experimental biomarkers and considered rather short follow-up intervals limiting their value for daily clinical practice. We, therefore, aimed to compare various clinical routine blood biomarkers for their predictive value on post-stroke mortality over a 5-year follow-up period. PATIENTS AND METHODS: This data analysis of a prospective single-center study included all consecutive ischemic stroke patients admitted to the stroke unit of our university hospital over a 1-year period. Various blood biomarkers of inflammation, heart failure, metabolic disorders, and coagulation were analyzed from standardized routine blood samples collected within 24 h of hospital admission. All patients underwent a thorough diagnostic workup and were followed for 5 years post-stroke. RESULTS: Of 405 patients (mean age: 70.3 years), 72 deceased (17.8%) during the follow-up period. While various routine blood biomarkers were associated with post-stroke mortality in univariable analyses, only NT-proBNP remained an independent predictor (adjusted odds ratio 5.1; 95% CI 2.0-13.1; p < 0.001) for death after stroke. NT-proBNP levels ⩾794 pg/mL (n = 169, 42%) had a sensitivity of 90% for post-stroke mortality with a negative predictive value of 97% and was additionally associated with cardioembolic stroke and heart failure (each p ⩽ 0.05). CONCLUSION: NT-proBNP represents the most relevant routine blood-based biomarker for the prediction of long-term mortality after ischemic stroke. Increased NT-proBNP levels indicate a vulnerable subgroup of stroke patients in which early and thorough cardiovascular assessment and consistent follow-ups could improve outcome after stroke.


Assuntos
Insuficiência Cardíaca , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Idoso , Estudos Prospectivos , Acidente Vascular Cerebral/diagnóstico , Biomarcadores , Insuficiência Cardíaca/diagnóstico
8.
J Neurol ; 270(7): 3475-3482, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37004558

RESUMO

BACKGROUND: Although decompressive hemicraniectomy (DHC) is a lifesaving treatment strategy for patients with malignant middle cerebral artery infarction (mMCAi), only one in four patients achieves low to moderate post-stroke disability according to previous studies. However, the short follow-up periods in prior studies could have overestimated the poor clinical prognosis. This study therefore examined the long-term outcome after DHC for mMCAi. METHODS: We retrospectively included all patients who had undergone DHC after mMCAi at the University Hospital Graz between 2006 and 2019. Demographics, clinical data and complications were collected from electronic clinical patient records. To investigate long-term prognosis, all patients were followed up to 14 years after stroke including quality of life (QOL) assessment. Post-stroke disability was rated according to the modified Rankin Scale (mRS). RESULTS: Of 47 patients that had undergone DHC for mMCAi, follow-up data were available in 40 patients (mean age: 48 years; 40% female). Six months after the mMCAi, 14 patients had died (35%) and nine (23%) had a low to moderate post-stroke disability (mRS 0-3). Of 26 stroke survivors, half (50%) showed further mRS improvement (≥ 1 point) during the long-term follow-up period (mean follow-up time: 8 years). At last follow-up, 17 patients had achieved an mRS score of ≤ 3 (65% versus 35% after 6 months; p = 0.008) and 55% had no signs of depression and anxiety, and 50% no signs of pain or discomfort in QOL assessment. CONCLUSION: This study shows substantial long-term improvement of functional disability and reasonable QOL in mMCAi patients after DHC.


Assuntos
Craniectomia Descompressiva , Acidente Vascular Cerebral , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Infarto da Artéria Cerebral Média/cirurgia , Infarto da Artéria Cerebral Média/complicações , Qualidade de Vida , Resultado do Tratamento , Estudos Retrospectivos , Acidente Vascular Cerebral/complicações
9.
Risk Anal ; 43(9): 1843-1854, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36368675

RESUMO

The present study investigated older adults' risk perception, beliefs, and self-perception in the field of kitchen hygiene and food safety. A qualitative study with semi-structured focus groups was conducted. A total of 37 older adults (60-80 years of age) from Germany participated in four focus groups that were stratified by gender. Focus groups covered older adults' food-handling practices, their perceptions of vulnerability, and their informational needs in the field of food safety. A thematic analysis approach was adopted. The coding categories and subcategories were developed inductively by the researchers based on the data. The coded data were then used to identify overarching themes and subthemes. Main results showed that older adults had confidence in their knowledge and skills with regard to food safety, perceived their post-war generation overall to be resistant and other so-called at-risk groups to be more vulnerable. Moreover, they expressed low informational needs in the area of food safety. The results suggest that age-specific aspects play a role in older adults' risk perception and highlight the need to develop age-specific risk communication strategies that take into account older adults' beliefs, knowledge, and informational needs.


Assuntos
Manipulação de Alimentos , Inocuidade dos Alimentos , Grupos Focais , Pesquisa Qualitativa
10.
Clin Colon Rectal Surg ; 35(2): 113-121, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35237106

RESUMO

Transanal endoscopic surgery (TES), which is performed through a variety of transanal endoluminal multitasking surgical platforms, was developed to facilitate endoscopic en bloc excision of rectal lesions as a minimally invasive alternative to radical proctectomy. Although the oncologic safety of TES in the treatment of malignant rectal tumors has been an area of vigorous controversy over the past two decades, TES is currently accepted as an oncologically safe approach for the treatment of carefully selected early and superficial rectal cancers. TES can also serve as both a diagnostic and potentially curative treatment of partially resected unsuspected malignant polyps. In this article, indications and contraindications for transanal endoscopic excision of early rectal cancer lesions are reviewed, as well as selection criteria for the most appropriate transanal excisional approach. Preoperative preparation and surgical technique for complications of TES will be reviewed, as well as recommended surveillance and management of upstaged tumors.

11.
J Patient Exp ; 9: 23743735221077543, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35187223

RESUMO

This study evaluated the mental health and cancer treatment-related impact of the first wave of the COVID-19 pandemic on patients with breast and gynecologic cancers. An 18-question survey was administered in June 2020 at a New York City-based cancer center to assess the quality of life (QOL) and overall health (OH) during both the pandemic time period from March 1, 2020, through June 30, 2020, and the pre-pandemic period (prior to March 1, 2020). Survey questions were answered on a 5-point Likert scale and a 7-point EORTC QLQ-C30 QOL scale. Differences in mean QOL and OH scores were evaluated using a paired t-test. QOL and OH were significantly worsened by the pandemic, with significant increases in anxiety, depression, and mood swings.

12.
J Autism Dev Disord ; 52(1): 423-434, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33606157

RESUMO

The COVID-19 pandemic, and associated social distancing mandates, has placed significant limitations on in-person health services, requiring creative solutions for supporting clinicians engaged in the diagnosis of autism spectrum disorder (ASD). This report describes the five virtual instruments available at the time of manuscript development for use by experienced clinicians making diagnostic determinations of ASD for toddlers across the 12- to 36-months age range. We focus on synchronous virtual assessments in which clinicians guide the child's caregiver through a range of assessment activities and observe spontaneous and elicited behaviors. Assessments are compared on dimensions of targeted behavioral domains, specific activities and presses employed, scoring approaches, and other key logistical considerations to guide instrument selection for use in varied clinical and research contexts.


Assuntos
Transtorno do Espectro Autista , COVID-19 , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Cuidadores , Pré-Escolar , Humanos , Pandemias , SARS-CoV-2
13.
JSES Int ; 5(5): 863-868, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34505097

RESUMO

BACKGROUND: Perianchor cyst formation (PCF) can occur after arthroscopic rotator cuff repair with poly-L-lactic acid (PLLA) anchors; however, little is known about PCF after all-suture anchor (ASA) use. METHODS: We reviewed patients who underwent double-row arthroscopic rotator cuff repair from 2012 to 2017 with ASAs implanted in the medial row and PLLA anchors in the lateral row. We evaluated PCF (graded on magnetic resonance imaging) and compared physical examination and functional surveys between patients with PCF (WC) and without PCF (WoC) at long-term follow-up. RESULTS: Among twenty-two patients (23 shoulders), 93% of PLLA anchors (vs. 79% ASA) displayed a grade 0 PCF, P = .100. No PLLA anchors had a grade 3 or 4 PCF, compared to 11% of ASAs, P = .158. At a mean postoperative follow-up time of 113 weeks, there was no significant difference between WC and WoC cohorts with regard to range of motion, rotator cuff strength, American Shoulder and Elbow Surgeons survey scores, or retear rates. However, the WoC cohort had a significantly higher University of California at Los Angeles shoulder survey score at final follow-up (34.3 WoC vs. 30.9 WC, P = .024). CONCLUSION: No difference was found in PCF between ASAs and PLLA anchors. At long-term follow-up, WoC patients had significantly improved functional outcome scores, based on the University of California at Los Angeles survey, but equivalent range of motion and rotator cuff strength examinations compared with WC patients.

14.
Oncology ; 99(11): 699-702, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34425579

RESUMO

BACKGROUND: The Oncotype DX Recurrence Score (ODx RS) is the most widely adopted genomic assay used to guide treatment for patients with early-stage, hormone-positive (HR+) breast cancer (BC), with higher scores predicting greater risk of recurrence and benefit from chemotherapy. Patients with ODx RS >25 typically recieve adjuvant chemotherapy; however, data regarding efficacy of chemotherapy for reducing recurrence in this population have been mixed. OBJECTIVES: This study aimed to evaluate outcomes of patients with early-stage HR+ BC with high-risk ODx RS (26-30 and ≥31) in order to assess treatment patterns and outcomes. We hypothesized that the benefit of chemotherapy in these groups may be minimal and that select patients may forgo chemotherapy in favor of more aggressive endocrine therapy and ovarian suppression. METHODS: We performed a retrospective analysis of 515 patients with early-stage, HR+ BC with high-risk ODx RS 26-30 and ≥31 treated between 2006 and 2018. Patients were stratified by RS: low-risk (≤10), intermediate-risk (11-25), and high-risk (≥26). The Kaplan-Meier method was used to estimate the time to secondary invasive breast events (SIBE) or distributions overall and among different RS groups with the log rank test used to compare distributions between groups. RESULTS: Rates of chemotherapy administration were 7% among the low-risk group, 18% among the intermediate-risk group, and 83% among high-risk patients with 41 SIBE (8%) reported. When stratified by ODx RS, 5-year rates of SIBE were 4%, 6%, and 16% for low-risk, intermediate-risk, and high-risk RS, respectively. Among the 27 lymph node (LN)-negative patients with ODx RS 26-30, 74% received chemotherapy. The 5-year rate of SIBE was 25% among patients who received chemotherapy and 33% among those who did not (p = 0.5489). Among the 23 LN-negative patients with ODx RS ≥31, 91% of patients received chemotherapy. The 5-year rate of SIBE was 0% both with and without chemotherapy. CONCLUSIONS: There was no statistically significant difference in SIBE for patients with high-risk ODx RS based on chemotherapy treatment. More aggressive endocrine therapy with ovarian suppression has become an alternative to chemotherapy among patients with intermediate-risk ODx RS (16-25). This approach may be useful among patients with high-risk ODx RS, with additional studies needed in this patient population.


Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Perfilação da Expressão Gênica/métodos , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/metabolismo , Receptores de Estrogênio/metabolismo , Transcriptoma , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/tratamento farmacológico , Quimioterapia Adjuvante/métodos , Feminino , Seguimentos , Humanos , Estimativa de Kaplan-Meier , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
15.
Res Dev Disabil ; 115: 103993, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34049209

RESUMO

BACKGROUND: Many cognitive tests assess a limited developmental span, making longitudinal measurement for trials aimed at improving cognition challenging. Tests targeting transitional skills, which integrate foundational abilities into complex schemas, may be amenable to assessment across a wide developmental span. Furthermore, tablet-based tests permit computer adaptive testing (CAT), which is psychometrically more efficient and could increase testing motivation, especially for children with developmental delays. Such measures may be useful for research and clinical practice. AIMS: Outline the creation of a novel, tablet-based concept formation test, and evaluate its feasibility in individuals with mental ages less than 24-months. METHODS AND PROCEDURES: Item generation, user interface construction, and pre-piloting were conducted in consultation with subject matter experts. Item content and interface parameters underwent iterative revisions, resulting in the pilot test. OUTCOMES AND RESULTS: We created and piloted a tablet-based test of concept formation suitable for CAT-based administration with items of increasing difficulty based on target salience. We show feasibility in individuals with mental ages less than 24-months-old. CONCLUSIONS AND IMPLICATIONS: Tablet-based assessment of concept formation may be a useful outcome measure of an aspect of cognitive ability in young children. Future work will address optimizing the user interface and developing CAT administration.


Assuntos
Cognição , Computadores , Pré-Escolar , Estudos de Viabilidade , Humanos , Testes Neuropsicológicos , Projetos Piloto
16.
Clin Imaging ; 75: 138-142, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33549922

RESUMO

Hidradenocarcinoma is a rare, aggressive cancer arising from sweat glands. Hidradenocarcinoma has no definitive histologic features compared to its benign hidradenoma, thereby posing a diagnostic challenge for clinicians and pathologists. This novel case report demonstrates specific MRI signs that suggested malignant degeneration of hidradenoma.


Assuntos
Acrospiroma , Adenoma de Glândula Sudorípara , Neoplasias das Glândulas Sudoríparas , Acrospiroma/diagnóstico por imagem , Acrospiroma/cirurgia , Adenoma de Glândula Sudorípara/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Neoplasias das Glândulas Sudoríparas/diagnóstico por imagem , Neoplasias das Glândulas Sudoríparas/cirurgia
17.
J Breast Cancer ; 23(5): 542-552, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33154829

RESUMO

Prior to the coronavirus disease 2019 (COVID-19) pandemic, telehealth was rarely utilized for oncologic care in metropolitan areas. Our large New York City based outpatient breast/gynecologic cancer clinic administered an 18-question survey to patients from March to June 2020, to assess the perceptions of the utility of telehealth medicine. Of the 622 patients, 215 (35%) completed the survey, and of the 215 respondents, 74 (35%) had participated in a telehealth visit. We evaluated the use of telehealth services using the validated Service User Technology Acceptability Questionnaire. Sixty-eight patients (92%) reported that telehealth services saved them time, 54 (73%) reported telehealth increased access to care, and 58 (82%) reported telehealth improved their health. Overall, 67 (92%) of patients expressed satisfaction with the use of telehealth services for oncologic care during the COVID-19 pandemic. Telehealth services should be carefully adopted as an addition to in-person clinical care of patients with cancer.

18.
Hum Mutat ; 41(9): 1577-1587, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32516855

RESUMO

The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenicity of variants with lower penetrance can be challenging. The vinculin (VCL) gene illustrates these challenges. Model organism data provide evidence that loss of function of VCL may play a role in cardiomyopathy and aggregate case-control studies suggest low penetrance. VCL loss of function variants, however, are rarely identified in affected probands and therefore there is a paucity of family studies clarifying the clinical significance of individual variants. This study, which aggregated data from >18,000 individuals who underwent gene panel or exome testing for inherited cardiomyopathies, identified 32 probands with VCL loss-of-function variants and confirmed enrichment in probands with dilated cardiomyopathy (odds ratio [OR] = 9.01; confidence interval [CI] = 4.93-16.45). Our data revealed that the majority of these individuals (89.5%) had pediatric onset of disease. Family studies demonstrated that heterozygous loss of function of VCL alone is insufficient to cause cardiomyopathy but that these variants do contribute to disease risk. In conclusion, VCL loss-of-function variants should be reported in a diagnostic setting but need to be clearly distinguished as having lower penetrance.


Assuntos
Cardiomiopatias/genética , Predisposição Genética para Doença , Mutação com Perda de Função , Vinculina/genética , Adolescente , Adulto , Cardiomiopatia Dilatada/genética , Criança , Pré-Escolar , Exoma , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto Jovem
19.
Brain Sci ; 10(4)2020 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-32260354

RESUMO

While it is widely acknowledged that language development is delayed for the majority of individuals with fragile X syndrome (FXS), there has been limited research into how best to assess this area. This study aimed to deepen the understanding of standardized language assessment in FXS by addressing the three following objectives: (1) Examine the feasibility and validity of widely-used, standardized assessments in participants with FXS; (2) describe linguistic and cognitive profiles for a large sample of individuals with FXS; and (3) Compare results obtained from objective testing in clinic to those obtained using caregiver report. Results indicate that previous results indicating strong correlations between cognition and language results hold true across a wide range of ages as well as across multiple assessments, with an exception in very young children. Caregiver report tended to give lower estimates of language ability than what was found using an objectively administered assessment. Appropriate assessments remain difficult to find as a significant percentage of individuals scored at floor when scaled scores were calculated. Further, a sub-group of participants were coded for behavioral response to testing demands, the majority being able to complete a standardized assessment. These results speak to the need for assessments that provide a wider range of items so individuals can both achieve a valid score and demonstrate progress in their attainment of language skills.

20.
Front Psychol ; 10: 1906, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31551848

RESUMO

Previous studies regarding age-related changes in proactive control were inconclusive and the effects of emotion on proactive control in ageing are yet to be determined. Here, we assessed the role of task-relevant emotion on proactive control in younger and older adults. Proactive control was manipulated by varying the proportion of conflict trials in an emotional Stroop task. In Experiment 1, emotional target faces with congruent, incongruent or non-word distractor labels were used to assess proactive control in younger and older adults. To investigate whether the effects of emotion are consistent across different stimulus types, emotional target words with congruent, incongruent or obscured distractor faces were used in Experiment 2. Data from this study showed that older adults successfully deployed proactive control when needed and that task-relevant emotion affected cognitive control similarly in both age groups. It was also found that the effects of emotion on cognitive performance were qualitatively different for faces and words, with facilitating effects being observed for happy faces and for negative words. Overall, these results suggest that the effects of emotion and age on proactive control depend on the task at hand and the chosen stimulus set.

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