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1.
Gynecol Oncol ; 176: 90-97, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37478617

RESUMO

OBJECTIVES: To evaluate clinical, laboratory, and radiological variables from preoperative contrast-enhanced computed tomography (CECT) for their ability to distinguish ovarian clear cell carcinoma (OCCC) from non-OCCC and to develop a nomogram to preoperatively predict the probability of OCCC. METHODS: This IRB-approved, retrospective study included consecutive patients who underwent surgery for an ovarian tumor from 1/1/2000 to 12/31/2016 and CECT of the abdomen and pelvis ≤90 days before primary debulking surgery. Using a standardized form, two experienced oncologic radiologists independently analyzed imaging features and provided a subjective 5-point impression of the probability of the histological diagnosis. Nomogram models incorporating clinical, laboratory, and radiological features were created to predict histological diagnosis of OCCC over non-OCCC. RESULTS: The final analysis included 533 patients with surgically confirmed OCCC (n = 61) and non-OCCC (n = 472); history of endometriosis was more often found in patients with OCCC (20% versus 3.6%; p < 0.001), while CA-125 was significantly higher in patients with non-OCCC (351 ng/mL versus 70 ng/mL; p < 0.001). A nomogram model incorporating clinical (age, history of endometriosis and adenomyosis), laboratory (CA-125) and imaging findings (peritoneal implant distribution, morphology, laterality, and diameter of ovarian lesion and of the largest solid component) had an AUC of 0.9 (95% CI: 0.847, 0.949), which was comparable to the AUCs of the experienced radiologists' subjective impressions [0.8 (95% CI: 0.822, 0.891) and 0.9 (95% CI: 0.865, 0.936)]. CONCLUSIONS: A presurgical nomogram model incorporating readily accessible clinical, laboratory, and CECT variables was a powerful predictor of OCCC, a subtype often requiring a distinctive treatment approach.


Assuntos
Adenocarcinoma de Células Claras , Endometriose , Neoplasias Ovarianas , Feminino , Humanos , Nomogramas , Estudos Retrospectivos , Endometriose/diagnóstico por imagem , Endometriose/cirurgia , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , Probabilidade , Adenocarcinoma de Células Claras/diagnóstico por imagem , Adenocarcinoma de Células Claras/cirurgia , Antígeno Ca-125
2.
Mov Disord ; 37(5): 1040-1046, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35170086

RESUMO

BACKGROUND: Subtle neurodegenerative motor and cognitive impairments accumulate over a prodromal period several years before clinical diagnosis of Huntington's disease (HD). The inclusion of prodromal individuals in therapeutic trials would facilitate testing of therapies early in the disease course and the development of treatments intended to prevent or delay disability. OBJECTIVES: We evaluate the normalized prognostic index (PIN) score as a tool to select participants for a perimanifest trial. We explore anticipated PIN-based inclusion rates from the preHD screening population and estimate sample-size requirements based on PIN threshold, trial duration, and outcome measure. METHODS: Individual participant data from ENROLL-HD were used to fit mixed effect linear models to assess longitudinal changes in clinical metrics for participants with early-manifest HD and PIN-stratified preHD subcohorts. RESULTS: A PIN threshold of 0.0 was met by 40% of the preHD participants in ENROLL-HD; 39.4% and 55.2% progressed to new diagnoses of early-manifest HD within 2 and 3 years, respectively. Various PIN thresholds also enabled the selection of specified ratios of prodromal preHD to early manifest HD participants for a perimanifest trial. Estimated sample sizes for a trial enrolling prodromal preHD (PIN > 0.0) and stage 1 and 2 motor-diagnosed participants varied depending on the composition of the screening pool, the length of follow-up (1, 2, or 3 years), and outcome measure. CONCLUSIONS: The composition of a perimanifest clinical trial population can be defined using preselected PIN thresholds, facilitating the assessment of potential disease-modifying therapies in HD. © 2022 Voyager Therapeutics, Inc. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.


Assuntos
Doença de Huntington , Ensaios Clínicos como Assunto , Progressão da Doença , Humanos , Doença de Huntington/diagnóstico , Doença de Huntington/tratamento farmacológico , Movimento , Sintomas Prodrômicos , Prognóstico
3.
J Surg Res ; 279: 208-217, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35780534

RESUMO

INTRODUCTION: Institutions have reported decreases in operative volume due to COVID-19. Junior residents have fewer opportunities for operative experience and COVID-19 further jeopardizes their operative exposure. This study quantifies the impact of the COVID-19 pandemic on resident operative exposure using resident case logs focusing on junior residents and categorizes the response of surgical residency programs to the COVID-19 pandemic. MATERIALS AND METHODS: A retrospective multicenter cohort study was conducted; 276,481 case logs were collected from 407 general surgery residents of 18 participating institutions, spanning 2016-2020. Characteristics of each institution and program changes in response to COVID-19 were collected via surveys. RESULTS: Senior residents performed 117 more cases than junior residents each year (P < 0.001). Prior to the pandemic, senior resident case volume increased each year (38 per year, 95% confidence interval 2.9-74.9) while junior resident case volume remained stagnant (95% confidence interval 13.7-22.0). Early in the COVID-19 pandemic, junior residents reported on average 11% fewer cases when compared to the three prior academic years (P = 0.001). The largest decreases in cases were those with higher resident autonomy (Surgeon Jr, P = 0.03). The greatest impact of COVID-19 on junior resident case volume was in community-based medical centers (246 prepandemic versus 216 during pandemic, P = 0.009) and institutions which reached Stage 3 Program Pandemic Status (P = 0.01). CONCLUSIONS: Residents reported a significant decrease in operative volume during the 2019 academic year, disproportionately impacting junior residents. The long-term consequences of COVID-19 on junior surgical trainee competence and ability to reach cases requirements are yet unknown but are unlikely to be negligible.


Assuntos
COVID-19 , Cirurgia Geral , Internato e Residência , COVID-19/epidemiologia , Competência Clínica , Estudos de Coortes , Educação de Pós-Graduação em Medicina , Cirurgia Geral/educação , Humanos , Pandemias
4.
Arch Gynecol Obstet ; 303(3): 751-757, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33221957

RESUMO

PURPOSE: Proposal of a systematic approach to assess Deep infiltrating endometriosis (DIE) through pelvic Magnetic resonance imaging (MRI) using the Enzian classification and examination of inter-rater agreement. METHODS: Three radiologists reviewed 23 MRI of patients with pelvic DIE at one tertiary referral center retrospectively and independently. Inclusion criteria were intraoperative confirmation of DIE and MR imaging according to ESUR (European Society of Urogenital Radiology) guidelines. Assessment of the anatomical pelvic compartments was performed using a manual based on the Enzian classification with step-by-step instructions using recommended planes and sequences presented here. Interrater agreement was measured using kappa statistics. RESULTS: According to the intraoperative site lesions in 53 anatomical compartments were present. Interrater agreement was best for compartments A (0.255) and FB (0.642). For FI (0.204) and B (0.146) it was slight, there was poor agreement for C (- 0.263), FA (- 0.022), and FO (- 0.030), respectively, and as for FU, no ureter infiltration was described. CONCLUSION: MRI as a noninvasive diagnostic tool offers essential advantages regarding classification and therapy planning for patients with DIE. However, its assessment is difficult and a more systematic approach is needed. Our proposed manual based on the Enzian classification is reproducible and could support radiologists and gynecologists.


Assuntos
Endometriose/classificação , Endometriose/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Pelve/diagnóstico por imagem , Adulto , Endometriose/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Variações Dependentes do Observador , Pelve/patologia , Estudos Retrospectivos , Sensibilidade e Especificidade
5.
J Urol ; 204(2): 254-259, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32134343

RESUMO

PURPOSE: We determined the diagnostic performance of 18F-FDG (fluorodeoxyglucose) positron emission tomography/computerized tomography for detecting nodal metastases in patients with muscle invasive urothelial bladder cancer before radical cystectomy. MATERIALS AND METHODS: Preoperative 18F-FDG positron emission tomography/computerized tomography scans (208) were retrospectively reviewed. Scans were routinely performed in 185 patients with muscle invasive urothelial bladder cancer between August 2012 and February 2017, all of whom underwent radical cystectomy and pelvic lymph node dissection. Analyses were stratified by clinical node involvement and chemotherapy status. The diagnostic performance of 18F-FDG positron emission tomography/computerized tomography was assessed according to sensitivity, specificity, positive predictive value and negative predictive value. RESULTS: Lymph node metastases at time of pelvic lymph node dissection were present in 21.8% of those without suspicious nodes on computerized tomography (clinically node negative) and 52.6% of those with suspicious nodes on computerized tomography (clinically node positive). Median metastatic focus size was 5 mm. In clinically node negative cases 18F-FDG positron emission tomography/computerized tomography rarely detected nodal metastases (sensitivity 7% to 23%). In clinically node positive cases negative 18F-FDG positron emission tomography/computerized tomography was useful in ruling out lymph node metastases (sensitivity 92% to 100%). This study was limited by its mixed population and focus on pelvic nodal metastases only. CONCLUSIONS: 18F-FDG positron emission tomography/computerized tomography appears to be most useful for better characterization of enlarged nodes identified by computerized tomography. Routine preoperative 18F-FDG positron emission tomography/computerized tomography has limited utility in clinically node negative cases.


Assuntos
Carcinoma de Células de Transição/patologia , Metástase Linfática/diagnóstico por imagem , Neoplasias da Bexiga Urinária/patologia , Idoso , Carcinoma de Células de Transição/cirurgia , Cistectomia , Feminino , Fluordesoxiglucose F18 , Humanos , Excisão de Linfonodo , Metástase Linfática/patologia , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Compostos Radiofarmacêuticos , Sensibilidade e Especificidade , Neoplasias da Bexiga Urinária/cirurgia
6.
MAGMA ; 33(3): 439-446, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31625030

RESUMO

INTRODUCTION: Although relevant for assessment of sodium in multiple endocrine pathways, 23Na-T1 quantification is challenging due to technical limitations (SAR, B1 inhomogeneity) or influence of tissue's local molecular dynamics. Hereby, we propose T1 quantification of 23Na-MRI signal acquired over the abdomen using a centric-reordered saturation-recovery (SR) true fast imaging with steady state precession (TrueFISP) sequence. MATERIALS AND METHODS: Measurements were performed at 3T using a dual-tunable 23Na/1H coil in 7 healthy volunteers (TR/TE = 858-928/1.57 ms; flip angle = 90°; bandwidth = 450 Hz/px; voxel size = 5 × 5 × 10 mm3). Variable T1-weighting was achieved applying non-selective saturation pre-pulses delayed from the centre of the k-space acquisition by 25, 40, 60, 120 and 250 ms. T1-curve fitting was performed slice-wise, separately for average intensity values from the manually segmented areas of the renal parenchyma and spinal canal, over the increasing SR times- assuming monoexponential signal pattern. RESULTS: Mean ± standard deviation of 23Na-T1 was found as 29 ± 10 ms and 35 ± 8 ms for the renal parenchyma and the spinal canal, respectively. DISCUSSION: 23Na-T1 quantification using a SR-TrueFISP is feasible in clinical settings, in the images constrained by clinically applicable acquisition time of reduced spatial resolution or averages.


Assuntos
Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Isótopos de Sódio , Abdome , Adulto , Algoritmos , Calibragem , Simulação por Computador , Feminino , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento Tridimensional , Masculino , Distribuição Normal , Imagens de Fantasmas , Reprodutibilidade dos Testes , Razão Sinal-Ruído , Sódio , Água/química
7.
HPB (Oxford) ; 22(1): 12-19, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31350105

RESUMO

BACKGROUND: The recurrence rates and predictors of recurrence in patients with Solid Pseudopapillary tumors (SPT) are unclear, which makes it challenging to determine the duration of follow-up. The aim of the current study was to perform a systematic review and meta-analysis to determine the recurrence rates and pathologic factors associated with recurrence in patients with SPT. METHODS: A PubMed, Scopus, and Web of Science search was conducted to identify studies of SPT published during the last 15 years: (09/2002-09/2017). Studies reporting on patients with SPT and follow-up of >5 years were included. The search strategy was conducted per 2009 PRISMA guidelines. RESULTS: A total of 103 studies reporting on 2599 non-metastatic SPT patients were identified. Sixty-nine patients (2.6%) developed recurrence during follow-up. Pooled estimates from studies with a sample size >20 (N = 33) noted an overall recurrence rate of 2% (95% CI 1-2%). Male gender (OR 1.960), positive lymph nodes (OR 11.9), R1 margins (OR 11.1), and LVI (OR 5.5), were associated with a significantly (all p < 0.05) increased risk of recurrence. CONCLUSION: Current meta-analysis suggests that only 2% of patients with SPT experience recurrence after resection. These data will guide the treating physicians and patients regarding recurrence rates and help identify patients at increased risk of recurrence during follow-up.


Assuntos
Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/patologia , Feminino , Humanos , Masculino , Margens de Excisão , Invasividade Neoplásica , Estadiamento de Neoplasias , Pancreatectomia , Neoplasias Pancreáticas/cirurgia , Fatores de Risco , Fatores Sexuais
8.
AJR Am J Roentgenol ; 213(1): 200-210, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31039029

RESUMO

OBJECTIVE. For this study, we reviewed 56 standard-of-care CT examinations over a timespan of 2 years from patients with superior thoracic inlet venous obstruction and identified eight thoracic collateral pathways for venous blood return to the right heart. We evaluated each pathway individually from an anatomic and a pathophysiologic perspective for a better understanding of how such pathways form and what patterns can be expected. MATERIALS AND METHODS. All 56 patients were scanned according to our standard CT protocol. Images of the thoracic region were acquired in the craniocaudal direction during breath-holding using a second-generation dual-source CT scanner. Contrast medium was administered via a cubital or antecubital vein; the amount of contrast material ranged from 49 to 81 mL depending on patient body weight. RESULTS. Of the 56 patients, CT showed superior vena cava syndrome exclusively in 22 (39%) patients and showed superior vena cava syndrome and involvement of the left or right brachiocephalic vein or even the subclavian vein in the remaining 34 (61%) patients. We could not find any remarkable feature leading to the formation of only one collateral pathway or to a specific pattern depending on underlying cause or the level or the extent of obstruction. Thus, we believe that there are no specific patterns for how these venous detours form and that they are most probably driven by pressure gradients. CONCLUSION. Recognizing imaging findings associated with venous collateral pathways may prevent misdiagnosis or unnecessary follow-up examinations. Furthermore, knowledge of these collateral pathways and an understanding of the underlying cause can support interventional radiologists and vascular surgeons in planning interventional procedures and revascularization procedures.

9.
Ann Surg ; 266(4): 582-594, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28742711

RESUMO

OBJECTIVE: This study evaluates the current state of the General Surgery (GS) residency training model by investigating resident operative performance and autonomy. BACKGROUND: The American Board of Surgery has designated 132 procedures as being "Core" to the practice of GS. GS residents are expected to be able to safely and independently perform those procedures by the time they graduate. There is growing concern that not all residents achieve that standard. Lack of operative autonomy may play a role. METHODS: Attendings in 14 General Surgery programs were trained to use a) the 5-level System for Improving and Measuring Procedural Learning (SIMPL) Performance scale to assess resident readiness for independent practice and b) the 4-level Zwisch scale to assess the level of guidance (ie, autonomy) they provided to residents during specific procedures. Ratings were collected immediately after cases that involved a categorical GS resident. Data were analyzed using descriptive statistics and supplemented with Bayesian ordinal model-based estimation. RESULTS: A total of 444 attending surgeons rated 536 categorical residents after 10,130 procedures. Performance: from the first to the last year of training, the proportion of Performance ratings for Core procedures (n = 6931) at "Practice Ready" or above increased from 12.3% to 77.1%. The predicted probability that a typical trainee would be rated as Competent after performing an average Core procedure on an average complexity patient during the last week of residency training is 90.5% (95% CI: 85.7%-94%). This falls to 84.6% for more complex patients and to less than 80% for more difficult Core procedures. Autonomy: for all procedures, the proportion of Zwisch ratings indicating meaningful autonomy ("Passive Help" or "Supervision Only") increased from 15.1% to 65.7% from the first to the last year of training. For the Core procedures performed by residents in their final 6 months of training (cholecystectomy, inguinal/femoral hernia repair, appendectomy, ventral hernia repair, and partial colectomy), the proportion of Zwisch ratings (n = 357) indicating near-independence ("Supervision Only") was 33.3%. CONCLUSIONS: US General Surgery residents are not universally ready to independently perform Core procedures by the time they complete residency training. Progressive resident autonomy is also limited. It is unknown if the amount of autonomy residents do achieve is sufficient to ensure readiness for the entire spectrum of independent practice.


Assuntos
Competência Clínica , Cirurgia Geral/educação , Internato e Residência/normas , Autonomia Profissional , Educação Baseada em Competências , Avaliação Educacional/normas , Feedback Formativo , Cirurgia Geral/normas , Humanos , Estudos Prospectivos , Estados Unidos
10.
Eur Radiol ; 27(9): 3991-4001, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28289945

RESUMO

PURPOSE: To evaluate the associations between clinical outcomes and radiomics-derived inter-site spatial heterogeneity metrics across multiple metastatic lesions on CT in patients with high-grade serous ovarian cancer (HGSOC). METHODS: IRB-approved retrospective study of 38 HGSOC patients. All sites of suspected HGSOC involvement on preoperative CT were manually segmented. Gray-level correlation matrix-based textures were computed from each tumour site, and grouped into five clusters using a Gaussian Mixture Model. Pairwise inter-site similarities were computed, generating an inter-site similarity matrix (ISM). Inter-site texture heterogeneity metrics were computed from the ISM and compared to clinical outcomes. RESULTS: Of the 12 inter-site texture heterogeneity metrics evaluated, those capturing the differences in texture similarities across sites were associated with shorter overall survival (inter-site similarity entropy, similarity level cluster shade, and inter-site similarity level cluster prominence; p ≤ 0.05) and incomplete surgical resection (similarity level cluster shade, inter-site similarity level cluster prominence and inter-site cluster variance; p ≤ 0.05). Neither the total number of disease sites per patient nor the overall tumour volume per patient was associated with overall survival. Amplification of 19q12 involving cyclin E1 gene (CCNE1) predominantly occurred in patients with more heterogeneous inter-site textures. CONCLUSION: Quantitative metrics non-invasively capturing spatial inter-site heterogeneity may predict outcomes in patients with HGSOC. KEY POINTS: • Calculating inter-site texture-based heterogeneity metrics was feasible • Metrics capturing texture similarities across HGSOC sites were associated with overall survival • Heterogeneity metrics were also associated with incomplete surgical resection of HGSOC.


Assuntos
Neoplasias Ovarianas/patologia , Adulto , Idoso , Ciclina E/genética , Feminino , Amplificação de Genes/genética , Humanos , Pessoa de Meia-Idade , Técnicas de Amplificação de Ácido Nucleico , Proteínas Oncogênicas/genética , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/mortalidade , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
13.
Bioinformatics ; 29(23): 3029-35, 2013 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-24048358

RESUMO

MOTIVATION: The precise identification of functionally and structurally important residues of a protein is still an open problem, and state-of-the-art classifiers predict only one or at most two different categories. RESULT: We have implemented the classifier CLIPS-4D, which predicts in a mutually exclusively manner a role in catalysis, ligand-binding or protein stability for each residue-position of a protein. Each prediction is assigned a P-value, which enables the statistical assessment and the selection of predictions with similar quality. CLIPS-4D requires as input a multiple sequence alignment and a 3D structure of one protein in PDB format. A comparison with existing methods confirmed state-of-the-art prediction quality, even though CLIPS-4D classifies more specifically than other methods. CLIPS-4D was implemented as a multiclass support vector machine, which exploits seven sequence-based and two structure-based features, each of which was shown to contribute to classification quality. The classification of ligand-binding sites profited most from the 3D features, which were the assessment of the solvent accessible surface area and the identification of surface pockets. In contrast, five additionally tested 3D features did not increase the classification performance achieved with evolutionary signals deduced from the multiple sequence alignment.


Assuntos
Biologia Computacional/métodos , Proteínas/química , Alinhamento de Sequência/métodos , Análise de Sequência de Proteína/métodos , Software , Algoritmos , Sítios de Ligação , Catálise , Ligação Proteica , Máquina de Vetores de Suporte
14.
Alzheimers Dement ; 10(5 Suppl): S364-73, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24418055

RESUMO

BACKGROUND: In this study we assessed increased cortisol in Alzheimer's disease (AD) patients. The selective 11-ß-hydroxysteroid dehydrogenase type 1 (HSD-1) inhibitor ABT-384 blocked regeneration of active cortisol and this tests the hypothesis that intracellular hypercortisolism contributes to cognitive impairment. METHODS: In this double-blind, placebo- and active-controlled phase II study we examine the efficacy and safety of ABT-384 given 10 mg or 50 mg once daily, donepezil 10 mg once daily, or placebo for 12 weeks in subjects with mild-to-moderate AD. The primary efficacy end point was the change from baseline to final evaluation on the 13-item Alzheimer's Disease Assessment Scale-Cognitive subscale (ADAS-Cog) total score. RESULTS: The study was terminated for futility after randomization of 267 subjects. ABT-384 did not improve ADAS-Cog scores or any secondary end point; however, donepezil significantly improved both cognition and functional end points. Overall incidence of adverse events was similar among treatment groups. CONCLUSION: ABT-384, when tested at doses associated with complete brain HSD-1 inhibition, did not produce symptomatic improvement in AD.


Assuntos
Adamantano/análogos & derivados , Doença de Alzheimer/tratamento farmacológico , Nootrópicos/uso terapêutico , Piperazinas/uso terapêutico , Adamantano/efeitos adversos , Adamantano/uso terapêutico , Idoso , Donepezila , Método Duplo-Cego , Feminino , Humanos , Indanos/efeitos adversos , Indanos/uso terapêutico , Masculino , Testes Neuropsicológicos , Nootrópicos/efeitos adversos , Piperazinas/efeitos adversos , Piperidinas/efeitos adversos , Piperidinas/uso terapêutico , Resultado do Tratamento
15.
Front Neurol ; 15: 1320663, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38529036

RESUMO

Introduction: Because adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, rapidly progressive, debilitating, and ultimately fatal neurodegenerative disease, a rapid and accurate diagnosis is critical. This analysis examined the frequency of initial misdiagnosis of ALSP via comprehensive review of peer-reviewed published cases. Methods: Data were extracted from a MEDLINE search via PubMed (January 1, 1980, through March 22, 2022) from eligible published case reports/series for patients with an ALSP diagnosis that had been confirmed by testing for the colony-stimulating factor-1 receptor gene (CSF1R) mutation. Patient demographics, clinical symptoms, brain imaging, and initial diagnosis data were summarized descriptively. Categorical data for patient demographics, symptoms, and brain imaging were stratified by initial diagnosis category to test for differences in initial diagnosis based on each variable. Results: Data were extracted from a cohort of 291 patients with ALSP from 93 published case reports and case series. Mean (standard deviation) age of symptom onset was 43.2 (11.6) years. A family history of ALSP was observed in 59.1% of patients. Cognitive impairment (47.1%) and behavioral and psychiatric abnormalities (26.8%) were the most frequently reported initial symptoms. Of 291 total cases, an accurate initial diagnosis of ALSP was made in 72 cases (24.7%) and the most frequent initial misdiagnosis categories were frontotemporal dementia (28 [9.6%]) and multiple sclerosis (21 [7.2%]). Of the 219 cases (75.3%) that were initially mis- or undiagnosed, 206 cases (94.1%) were later confirmed as ALSP by immunohistology, imaging, and/or genetic testing; for the remaining 13 cases, no final diagnosis was reported. Initial diagnosis category varied based on age, family history, geographic region, mode of inheritance, and presenting symptoms of pyramidal or extrapyramidal motor dysfunction, behavioral and psychiatric abnormalities, cognitive impairment, and speech difficulty. Brain imaging abnormalities were common, and initial diagnosis category was significantly associated with white matter hyperintensities, white matter calcifications, and ventricular enlargement. Discussion: In this literature analysis, ALSP was frequently misdiagnosed. Improving awareness of this condition and distinguishing it from other conditions with overlapping presenting symptoms is important for timely management of a rapidly progressive disease such as ALSP.

16.
Neurology ; 98(1): e40-e50, 2022 01 04.
Artigo em Inglês | MEDLINE | ID: mdl-34649873

RESUMO

BACKGROUND AND OBJECTIVES: To report final, 36-month safety and clinical outcomes from the PD-1101 trial of NBIb-1817 (VY-AADC01) in participants with moderately advanced Parkinson disease (PD) and motor fluctuations. METHODS: PD-1101 was a phase 1b, open-label, dose escalation trial of VY-AADC01, an experimental AAV2 gene therapy encoding the human aromatic l-amino acid decarboxylase (AADC) enzyme. VY-AADC01 was delivered via bilateral, intraoperative MRI-guided putaminal infusions to 3 cohorts (n = 5 participants per cohort): cohort 1, ≤7.5 × 1011 vector genomes (vg); cohort 2, ≤1.5 × 1012 vg; cohort 3, ≤4.7 × 1012 vg. RESULTS: No serious adverse events (SAEs) attributed to VY-AADC01 were reported. All 4 non-vector-related SAEs (atrial fibrillation and pulmonary embolism in 1 participant and 2 events of small bowel obstruction in another participant) resolved. Requirements for PD medications were reduced by 21%-30% in the 2 highest dose cohorts at 36 months. Standard measures of motor function (PD diary, Unified Parkinson's Disease Rating Scale III "off"-medication and "on"-medication scores), global impressions of improvement (Clinical Global Impression of Improvement, Patient Global Impression of Improvement), and quality of life (39-item Parkinson's Disease Questionnaire) were stable or improved compared with baseline at 12, 24, and 36 months following VY-AADC01 administration across cohorts. DISCUSSIONS: VY-AADC01 and the surgical administration procedure were well-tolerated and resulted in stable or improved motor function and quality of life across cohorts, as well as reduced PD medication requirements in cohorts 2 and 3 over 3 years. TRIAL REGISTRATION INFORMATION: NCT01973543. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that, in patients with moderately advanced PD and motor fluctuations, putaminal infusion of VY-AADC01 is well tolerated and may improve motor function.


Assuntos
Carboxiliases , Doença de Parkinson , Aminoácidos/genética , Aminoácidos/uso terapêutico , Antiparkinsonianos/efeitos adversos , Carboxiliases/uso terapêutico , Terapia Genética/métodos , Humanos , Doença de Parkinson/tratamento farmacológico , Qualidade de Vida , Resultado do Tratamento
17.
Surgeon ; 9 Suppl 1: S32-4, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21549993

RESUMO

Healthcare professionals work in teams but are rarely trained together. Realizing the adverse impact of poor teamwork on patient care, the Accreditation Council for Graduate Medical Education requires surgical trainees to demonstrate a mastery of teamwork-related competencies. A number of team training curricula are available in the USA, the best known of which is TeamSTEPPS - developed by the U.S. Department of Defense Patient Safety Program in collaboration with the Agency for Healthcare Research and Quality.


Assuntos
Educação de Pós-Graduação em Medicina/métodos , Cirurgia Geral/educação , Relações Interprofissionais , Equipe de Assistência ao Paciente , Competência Clínica , Avaliação Educacional , Humanos , Internato e Residência/métodos , Liderança , Segurança do Paciente , Estados Unidos
18.
Radiology ; 254(2): 374-83, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20093510

RESUMO

PURPOSE: To evaluate the diagnostic performance of coronary computed tomographic (CT) angiography for the diagnosis of mitral valve prolapse (MVP). MATERIALS AND METHODS: The retrospective case-controlled multicenter study protocol was approved by the institutional review boards. The U.S. part of the study was HIPAA compliant. One hundred twelve patients who underwent electrocardiographically gated 64-section coronary CT angiography (n = 60) or dual-source coronary CT angiography (n = 52) and transthoracic echocardiography (TTE) were included. Fifty-three patients with MVP were matched for age and sex with 59 patients without MVP. CT images were analyzed on three-, two-, and four-chamber (CH) views by two independent observers. MVP was defined as a greater than 2-mm displacement of leaflets below the annulus plane and was subclassified as "billowing" (bowing) or "flail leaflet" (free leaflet margin displacement). Leaflet thickness was measured and defined as thickened if it was greater than 2 mm. RESULTS: The diagnostic performance of CT when three- and two-CH views were combined for the diagnosis of MVP was as follows: sensitivity, 96%; specificity, 93%; positive predictive value (PPV), 93%; and negative predictive value, 96%. On four-CH views, the excursion of billowing was higher than it was on three-CH views (P <.001), and the PPV of the four-CH view for diagnosis of MVP was 89%. The correlation between CT and TTE for excursion of billowing was high (r = 0.80-0.91). In a subset of 32 patients, the agreement between CT and TTE for differentiation of billowing (n = 13) and flail leaflet (n = 2) was 100%. Leaflet thickening was more prevalent in patients with MVP than it was in those without (71% vs 20%, P <.001), and correlation with TTE was good (r = 0.81 [anterior leaflet] and 0.77 [posterior leaflet]). CONCLUSION: The combined use of three- and two-CH views allows an accurate diagnosis of MVP at coronary CT angiography.


Assuntos
Angiografia Coronária/métodos , Ecocardiografia/métodos , Prolapso da Valva Mitral/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Eletrocardiografia , Feminino , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Estatísticas não Paramétricas
19.
Pediatr Surg Int ; 26(4): 367-71, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20148253

RESUMO

PURPOSE: Video-assisted thoracoscopic debridement (VATD) is a well-established intervention to treat pediatric empyema. There is ongoing controversy at what stage in the treatment algorithm it should be utilized. To shed further light onto this debate, we reviewed our institutional experience looking for factors predicting treatment failure or complications of VATD. METHODS: We retrospectively analyzed data on patients that had undergone VATD for empyema from 1995 to 2008. We used independent sample t tests and Chi-square tests (SPSS) for statistical analysis. RESULTS: One hundred and fifty-two procedures in 151 patients [81 male (53.6%)] were identified. In 146 (96.7%) the etiology of the empyema was pulmonary, in 3 (1.98%) due to an infectious abdominal process and in 2 (1.3%) due to abdominal trauma. 118 patients (78.1%) were transferred from outside hospitals. 107 (70.1%) underwent VATD primarily, 44 (29.1%) following another procedure. The overall complication rate was 13.8%, most of which were minor. Treatment failures occurred in seven patients, resulting in three reoperations; two patients died. The average length of stay was 10.1 days, but was significantly longer if VATD followed another procedure or if a complication occurred. The risk for complications correlated with older age (6.2 vs. 8.8 years, p = 0.023) and lower hematocrit on admission (31.1 vs. 27.9%, p = 0.006). CONCLUSIONS: VATD provided effective treatment for pediatric empyema. Complications were mostly minor, occurring more frequently in older patients and those with a lower admission hematocrit. Early VATD decreased the length of hospitalization.


Assuntos
Desbridamento/métodos , Empiema/cirurgia , Pneumopatias/cirurgia , Cirurgia Torácica Vídeoassistida/métodos , Abdome/cirurgia , Fatores Etários , Algoritmos , Criança , Empiema Pleural/cirurgia , Feminino , Humanos , Tempo de Internação/estatística & dados numéricos , Pulmão/cirurgia , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Reoperação , Estudos Retrospectivos , Fatores de Risco , Falha de Tratamento , Resultado do Tratamento
20.
J Surg Educ ; 77(6): e220-e228, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32747323

RESUMO

OBJECTIVE: Entrustable professional activities (EPAs) have been developed to refine competency-based education. The American Board of Surgery has initiated a 2-year pilot study to evaluate the impact of EPAs on the evaluation and feedback of surgical residents. The ACGME Milestones in Surgery is a semiannual competency-based evaluation program to measure resident progression through 16 professional attributes across 8 practice domains. The correlation between these 2 evaluation tools remains unclear. The purpose of this study is to evaluate this correlation through comparison of an EPA with the corresponding elements of the ACGME Milestones. DESIGN: From July, 2018 to October, 2019, all residents submitting EPA evaluations for gall bladder disease were evaluated for preoperative, intraoperative, and/or postoperative entrustability. The ratings were converted to a numerical rank from 0 to 4. Milestones scores from May 2019 and November 2019 were obtained for each resident, with scores ranging from 0 to 4. The gall bladder EPA incorporates the operative PC3 and MK2 and nonoperative PC1, PC2, and ICS3 components. Spearman rank correlation was conducted to evaluate the association between each resident's median EPA ranking and his/her milestones scores. SETTING: SUNY Upstate Medical University, Syracuse, NY, a university-based hospital. PARTICIPANTS: General surgery residents. RESULTS: Among 24 residents, 106 intraoperative EPA evaluations were. For both the May and November milestones, significant positive correlations were noted for PC3 (correlation coefficient ρ = 0.690, p < 0.001; ρ = 0.876, p < 0.001). Similarly, for MK2, a significant positive correlation was noted (ρ = 0.882, p < 0.001; ρ = 0.759, p < 0.001). Interestingly, significant positive correlations were also identified between the 3 nonoperative milestones and the intraoperative entrustability ranking. CONCLUSIONS: We observed significant correlations between EPAs for cholecystectomy and associated milestones evaluation scores. These findings indicate that EPAs may provide more timely and specific feedback than existing tools and, on aggregate, may improve upon existing formative feedback practices provided through the biannual evaluation of surgical residents.


Assuntos
Internato e Residência , Competência Clínica , Educação Baseada em Competências , Feminino , Hospitais Universitários , Humanos , Masculino , Projetos Piloto
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