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1.
J Neurointerv Surg ; 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38637150

RESUMO

Advancements in technology and technical expertise increasingly enable neurointerventionalists to deliver safer and more effective endovascular treatments to cancers of the brain, spine, head, and neck. In addition to established neuro-oncological interventions such as pre-surgical tumor embolization and percutaneous ablation, newer modalities focused on direct arterial infusion of chemotherapy, radioisotopes, and radiosensitizers continue to gain traction as complementary treatment options, while stem cell-mediated delivery of theranostic nanoparticles and oncolytic virus are being explored for even greater specificity in targeting cancers across the blood-brain barrier. This article aims to provide an overview of the current state of the art and future directions for the field of interventional neuro-oncology, as well as opportunities and challenges presented by this emerging treatment modality.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38516341

RESUMO

Among the numerous additive manufacturing or "three-dimensional (3D) printing" techniques, two-photon Direct Laser Writing (DLW) is distinctively suited for applications that demand high geometric versatility with micron-to-submicron-scale feature resolutions. Recently, "ex situ DLW (esDLW)" has emerged as a powerful approach for printing 3D microfluidic structures directly atop meso/macroscale fluidic tubing that can be manipulated by hand; however, difficulties in creating custom esDLW-compatible multilumen tubing at such scales has hindered progress. To address this impediment, here we introduce a novel methodology for fabricating submillimeter multilumen tubing for esDLW 3D printing. Preliminary fabrication results demonstrate the utility of the presented strategy for resolving 743 µm-in-diameter tubing with three lumens-each with an inner diameter (ID) of 80 µm. Experimental results not only revealed independent flow of discrete fluorescently labelled fluids through each of the three lumens, but also effective esDLW-printing of a demonstrative 3D "MEMS" microstructure atop the tubing. These results suggest that the presented approach could offer a promising pathway to enable geometrically sophisticated microfluidic systems to be 3D printed with input and/or output ports fully sealed to multiple, distinct lumens of fluidic tubing for emerging applications in fields ranging from drug delivery and medical diagnostics to soft surgical robotics.

3.
Eur J Radiol ; 174: 111397, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38452733

RESUMO

PURPOSE: To investigate quantitative changes in MRI signal intensity (SI) and lesion volume that indicate treatment response and correlate these changes with clinical outcomes after percutaneous sclerotherapy (PS) of extremity venous malformations (VMs). METHODS: VMs were segmented manually on pre- and post-treatment T2-weighted MRI using 3D Slicer to assess changes in lesion volume and SI. Clinical outcomes were scored on a 7-point Likert scale according to patient perception of symptom improvement; treatment response (success or failure) was determined accordingly. RESULTS: Eighty-one patients with VMs underwent 125 PS sessions. Treatment success occurred in 77 patients (95 %). Mean (±SD) changes were -7.9 ± 24 cm3 in lesion volume and -123 ± 162 in SI (both, P <.001). Mean reduction in lesion volume was greater in the success group (-9.4 ± 24 cm3) than in the failure group (21 ± 20 cm3) (P =.006). Overall, lesion volume correlated with treatment response (ρ = -0.3, P =.004). On subgroup analysis, volume change correlated with clinical outcomes in children (ρ = -0.3, P =.03), in sodium tetradecyl sulfate-treated lesions (ρ = -0.5, P =.02), and in foot lesions (ρ = -0.6, P =.04). SI change correlated with clinical outcomes in VMs treated in 1 PS session (ρ = -0.3, P =.01) and in bleomycin-treated lesions (ρ = -0.4, P =.04). CONCLUSIONS: Change in lesion volume is a reliable indicator of treatment response. Lesion volume and SI correlate with clinical outcomes in specific subgroups.


Assuntos
Escleroterapia , Malformações Vasculares , Criança , Humanos , Soluções Esclerosantes/uso terapêutico , Estudos Retrospectivos , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia , Veias , Resultado do Tratamento
4.
J Am Coll Radiol ; 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38220040

RESUMO

INTRODUCTION: Transarterial radioembolization (TARE) is one of the most promising therapeutic options for hepatic masses. Radiomics features, which are quantitative numeric features extracted from medical images, are considered to have potential in predicting treatment response in TARE. This article aims to provide meta-analytic evidence and critically appraise the methodology of radiomics studies published in this regard. METHODS: A systematic search was performed on PubMed, Scopus, Embase, and Web of Science. All relevant articles were retrieved, and the characteristics of the studies were extracted. The Radiomics Quality Score and Checklist for Evaluation of Radiomics Research were used to assess the methodologic quality of the studies. Pooled sensitivity, specificity, and area under the receiver operating characteristic curve in predicting objective response were determined. RESULTS: The systematic review included 15 studies. The average Radiomics Quality Score of these studies was 11.4 ± 2.1, and the average Checklist for Evaluation of Radiomics Research score was 33± 6.7. There was a notable correlation (correlation coefficient = 0.73) between the two metrics. Adherence to quality measures differed considerably among the studies and even within different components of the same studies. The pooled sensitivity and specificity of the radiomics models in predicting complete or partial response were 83.5% (95% confidence interval 76%-88.9%) and 86.7% (95% confidence interval 78%-92%), respectively. CONCLUSION: Radiomics models show great potential in predicting treatment response in TARE of hepatic lesions. However, the heterogeneity seen between the methodologic quality of studies may limit the generalizability of the results. Future initiatives should aim to develop radiomics signatures using multiple external datasets and adhere to quality measures in radiomics methodology.

5.
J Am Coll Radiol ; 2024 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-38191081

RESUMO

INTRODUCTION: Black and underinsured women in the United States are more likely than their counterparts to develop uterine fibroids (UFs) and experience more severe symptoms. Uterine artery embolization (UAE), a uterine-sparing therapeutic procedure, is less invasive than the common alternative, open hysterectomy. To determine whether demographic disparities persist in UF treatment utilization, we reviewed patient characteristics associated with UAE versus hysterectomy for UF among studies of US clinical practices. METHODS: A systematic literature review was conducted via PubMed, Embase, and CINAHL (PROSPERO CRD42023455051), yielding 1,350 articles (January 1, 1995, to July 15, 2023) that outlined demographic characteristics of UAE compared with hysterectomy. Two readers screened for inclusion criteria, yielding 13 full-text US-based comparative studies specifying at least one common demographic characteristic. Random effects meta-analysis was performed on the data (STATA v18.0). Egger's regression test was used to quantify publication bias. RESULTS: Nine (138,960 patients), four (183,643 patients), and seven (312,270 patients) studies were analyzed for race, insurance status, and age as predictors of treatment modality, respectively. Black race (odds ratio = 3.35, P < .01) and young age (P < .05) were associated with UAE, whereas private insurance (relative to Medicare and/or Medicaid) was not (odds ratio = 1.06, P = .52). Between-study heterogeneity (I2 > 50%) was detected in all three meta-analyses. Small-study bias was detected for age but not race or insurance. CONCLUSIONS AND IMPLICATIONS: Knowledge of demographic characteristics of patients with UFs receiving UAE versus hysterectomy is sparse (n = 13 studies). Among these studies, which seem to be racially well distributed, Black and younger women are more likely to receive UAE than their counterparts.

6.
J Vasc Interv Radiol ; 35(3): 362-369, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38123126

RESUMO

PURPOSE: To determine time to occlusion and procedure costs of embolization of pulmonary arteriovenous malformations (PAVMs) using a polytetrafluoroethylene-covered microplug compared with embolization using detachable coils. MATERIALS AND METHODS: In this prospective study, 37 patients (mean age, 39.1 years [SD ± 17.6]) with 82 PAVMs underwent embolization with microplug or detachable coils between April 2019 and January 2023. Technical success, procedure time intervals, and costs were analyzed. RESULTS: In 37 patients, 82 PAVMs and 101 feeding arteries were successfully treated (microplug, 64; microplug + another device, 5; detachable coils alone, 32). Time from embolic device inserted into the catheter to device deployed and time to occlusion differed significantly between microplug and detachable coil cohorts (P < .0001 for both). Embolization with ≥1 microplug had a significantly shorter occlusion time than embolization with detachable coils (median, 10.0 minutes saved per feeding artery) (P < .0001). Compared with detachable coil embolization, microplug embolization saved a median of 9.0 minutes per feeding artery (P < .0001) and reduced room cost by a median of $429 per feeding artery (P < .0001). Device costs per feeding artery did not differ significantly between microplug ($2,790) and detachable coil embolization ($3,147) (P = .87). CONCLUSIONS: Compared with coils, microplugs had an equally high technical success rate but significant time to occlusion and room costs savings per feeding artery. Total room cost and device cost together did not differ significantly between microplugs and coils. Microplugs may be considered technically effective and at least cost-neutral for PAVM embolization where clinically appropriate.


Assuntos
Fístula Arteriovenosa , Malformações Arteriovenosas , Embolização Terapêutica , Artéria Pulmonar/anormalidades , Veias Pulmonares , Veias Pulmonares/anormalidades , Humanos , Adulto , Estudos Prospectivos , Politetrafluoretileno , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/terapia , Fístula Arteriovenosa/terapia , Embolização Terapêutica/métodos , Artéria Pulmonar/diagnóstico por imagem , Veias Pulmonares/diagnóstico por imagem , Resultado do Tratamento
8.
Artigo em Inglês | MEDLINE | ID: mdl-37937266

RESUMO

Purpose: Cone-beam CT (CBCT) is used in interventional radiology (IR) for identification of complex vascular anatomy, difficult to visualize in 2D fluoroscopy. However, long acquisition time makes CBCT susceptible to soft-tissue deformable motion that degrades visibility of fine vessels. We propose a targeted framework to compensate for deformable intra-scan motion via learned full-sequence models for identification of vascular anatomy coupled to an autofocus function specifically tailored to vascular imaging. Methods: The vessel-targeted autofocus acts in two stages: (i) identification of vascular and catheter targets in the projection domain; and, (ii) autofocus optimization for a 4D vector field through an objective function that quantifies vascular visibility. Target identification is based on a deep learning model that operates on the complete sequence of projections, via a transformer encoder-decoder architecture that uses spatial-temporal self-attention modules to infer long-range feature correlations, enabling identification of vascular anatomy with highly variable conspicuity. The vascular autofocus function is derived through eigenvalues of the local image Hessian, which quantify the local image structure for identification of bright tubular structures. Motion compensation was achieved via spatial transformer operators that impart time dependent deformations to NPAR = 90 partial angle reconstructions, allowing for efficient minimization via gradient backpropagation. The framework was trained and evaluated in synthetic abdominal CBCTs obtained from liver MDCT volumes and including realistic models of contrast-enhanced vascularity with 15 to 30 end branches, 1 - 3.5 mm vessel diameter, and 1400 HU contrast. Results: The targeted autofocus resulted in qualitative and quantitative improvement in vascular visibility in both simulated and clinical intra-procedural CBCT. The transformer-based target identification module resulted in superior detection of target vascularity and a lower number of false positives, compared to a baseline U-Net model acting on individual projection views, reflected as a 1.97x improvement in intersection-over-union values. Motion compensation in simulated data yielded improved conspicuity of vascular anatomy, and reduced streak artifacts and blurring around vessels, as well as recovery of shape distortion. These improvements amounted to an average 147% improvement in cross correlation computed against the motion-free ground truth, relative to the un-compensated reconstruction. Conclusion: Targeted autofocus yielded improved visibility of vascular anatomy in abdominal CBCT, providing better potential for intra-procedural tracking of fine vascular anatomy in 3D images. The proposed method poses an efficient solution to motion compensation in task-specific imaging, with future application to a wider range of imaging scenarios.

9.
Am J Transplant ; 2023 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-37949413

RESUMO

Body mass index is often used to determine kidney transplant (KT) candidacy. However, this measure of body composition (BC) has several limitations, including the inability to accurately capture dry weight. Objective computed tomography (CT)-based measures may improve pre-KT risk stratification and capture physiological aging more accurately. We quantified the association between CT-based BC measurements and waitlist mortality in a retrospective study of 828 KT candidates (2010-2022) with clinically obtained CT scans using adjusted competing risk regression. In total, 42.5% of candidates had myopenia, 11.4% had myopenic obesity (MO), 68.8% had myosteatosis, 24.8% had sarcopenia (probable = 11.2%, confirmed = 10.5%, and severe = 3.1%), and 8.6% had sarcopenic obesity. Myopenia, MO, and sarcopenic obesity were not associated with mortality. Patients with myosteatosis (adjusted subhazard ratio [aSHR] = 1.62, 95% confidence interval [CI]: 1.07-2.45; after confounder adjustment) or sarcopenia (probable: aSHR = 1.78, 95% CI: 1.10-2.88; confirmed: aSHR = 1.68, 95% CI: 1.01-2.82; and severe: aSHR = 2.51, 95% CI: 1.12-5.66; after full adjustment) were at increased risk of mortality. When stratified by age, MO (aSHR = 2.21, 95% CI: 1.28-3.83; P interaction = .005) and myosteatosis (aSHR = 1.95, 95% CI: 1.18-3.21; P interaction = .038) were associated with elevated risk only among candidates <65 years. MO was only associated with waitlist mortality among frail candidates (adjusted hazard ratio = 2.54, 95% CI: 1.28-5.05; P interaction = .021). Transplant centers should consider using BC metrics in addition to body mass index when a CT scan is available to improve pre-KT risk stratification at KT evaluation.

10.
J Vasc Interv Radiol ; 34(12): 2224-2232.e3, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37684003

RESUMO

OBJECTIVES: To identify the most suitable size of imaging-visible embolic agents with balanced safety and efficacy for bariatric arterial embolization (BAE) in a preclinical model. MATERIALS AND METHODS: Twenty-seven pigs were divided into 3 cohorts. In Cohort I, 16 pigs were randomized to receive (n = 4 each) 40-100-µm microspheres in 1 or 2 fundal arteries, 70-340-µm radiopaque microspheres in 2 fundal arteries, or saline. In Cohort II, 3 pigs underwent renal arterial embolization with either custom-made 100-200-µm, 200-250-µm, 200-300-µm, or 300-400-µm radiopaque microspheres or Bead Block 300-500 µm with microsphere distribution assessed histologically. In Cohort III, 8 pigs underwent BAE in 2 fundal arteries with tailored 100-200-µm radiopaque microspheres (n = 5) or saline (n = 3). RESULTS: In Cohort I, no significant differences in weight or ghrelin expression were observed between BAE and control animals. Moderate-to-severe gastric ulcerations were noted in all BAE animals. In Cohort II, renal embolization with 100-200-µm microspheres occluded vessels with a mean diameter of 139 µm ± 31, which is within the lower range of actual diameters of Bead Block 300-500 µm. In Cohort III, BAE with 100-200-µm microspheres resulted in significantly lower weight gain (42.3% ± 5.7% vs 51.6% ± 2.9% at 8 weeks; P = .04), fundal ghrelin cell density (16.1 ± 6.7 vs 23.6 ± 12.6; P = .045), and plasma ghrelin levels (1,709 pg/mL ± 172 vs 4,343 pg/mL ± 1,555; P < .01) compared with controls and superficial gastric ulcers (5/5). CONCLUSIONS: In this preclinical model, tailored 100-200-µm microspheres were shown to be most suitable for BAE in terms of safety and efficacy.


Assuntos
Bariatria , Embolização Terapêutica , Animais , Embolização Terapêutica/efeitos adversos , Embolização Terapêutica/métodos , Grelina , Microesferas , Estômago/irrigação sanguínea , Suínos
11.
BMJ Open ; 13(9): e072327, 2023 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-37770263

RESUMO

INTRODUCTION: Left gastric artery embolisation (LGAE) is a well-established treatment for major upper gastrointestinal (GI) bleeding when control is not established via upper GI endoscopy and recently has shown promising results for weight loss in small single arm studies. LGAE could be a treatment option in between our current tier-3 and tier-4 services for obesity. EMBIO is a National Institute for Health Research funded trial, a multicentre double-blinded randomised controlled trial between Imperial College National Health Service Trust and University College London Hospital, comparing LGAE versus Placebo procedure. The key aims of the trial is to evaluate LGAE efficacy on weight loss, its mechanism of action, safety profile and obesity-related comorbidities. METHODS AND ANALYSIS: 76 participants will be recruited from the existing tier-3 database after providing informed consent. Key inclusion criteria include adults aged 18-70 with a body mass index 35-50 kg/m2 and appropriate anatomy of the left gastric artery and coeliac plexus on CT Angiogram. Key exclusion criteria included previous major abdominal and bariatric surgery, weight >150 kg, type 2 diabetes on any medications other than metformin and the use of weight modifying medications. Participants will undergo mechanistic visits 1 week prior to the intervention and 3, 6 and 12 months postintervention. Informed consent will be received from each participant and they will be randomised in a 1:1 ratio to left gastric artery embolisation and placebo treatment. Blinding strategies include the use of moderate doses of sedation, visual and auditory isolation. All participants will enter a tier-3 weight management programme postintervention. The primary analysis will estimate the difference between the groups in the mean per cent weight loss at 12 months. ETHICS AND DISSEMINATION: This trial shall be conducted in full conformity with the 1964 Declaration of Helsinki and all subsequent revisions. Local research ethics approval was granted by London-Central Research Ethics Committee, (Reference 19/LO/0509) on 11 October 2019. The Medicines and Healthcare products Regulatory Agency (MHRA) issued the Letter of No Objection on 8 April 2022 (Reference CI/2022/0008/GB). The trial's development and progress are monitored by an independent trial steering committee and data monitoring and ethics committee. The researchers plan to disseminate results at conferences, in peer- reviewed journals as well as lay media and to patient organisations. TRIAL REGISTRATION NUMBER: ISRCTN16158402.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 2 , Adulto , Humanos , SARS-CoV-2 , Índice de Massa Corporal , Artéria Gástrica , Medicina Estatal , Obesidade/complicações , Obesidade/terapia , Resultado do Tratamento , Redução de Peso , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Multicêntricos como Assunto
12.
Radiology ; 308(1): e230809, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37489986
13.
Clin Imaging ; 101: 183-189, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37390610

RESUMO

BACKGROUND: T1-hyperintensity of the basal ganglia (BG) due to manganese deposition is a known radiologic finding in patients with hereditary hemorrhagic telangiectasia (HHT), but risk factors and associated clinical manifestations are unclear. This study conducted a quantitative analysis of the association of T1-hyperintensity in HHT patients with specific risk factors, signs, and symptoms. METHODS: Patients seen at our center between 2005 and 2020 with a definitive diagnosis of HHT who had an available non-contrast T1-weighted brain MRI were included. Hyperintensity was evaluated using oval regions of interest measurements. The BG: thalamus intensity ratio was used to quantitatively evaluate T1-hyperintensity. Patient laboratory values and clinical findings were collected from electronic medical records. Hyperintensity was analyzed for its association with laboratory values, and clinical findings. Variables were analyzed through regression analysis. RESULTS: A total of 239 patients were included in this study. On 1.5 T scanners, values that were significant on multivariable regression analysis were age (p < .001), hepatic AVMs (p < .001), iron deficiency anemia (p = .0021), and cirrhosis (p = .016). On 3 T scanners, values that were significant on multivariable analysis were hepatic AVMs (p = .0024) and cirrhosis (p = .0056). On 3 T scanners, hyperintensity was significantly associated with tremor (OR = 1.17, p = .033), restless leg syndrome (OR = 1.22, p = .0086), and memory problems (OR = 1.17, p = .046). CONCLUSIONS: BG hyperintensity due to manganese deposition is significantly associated with hepatic risk factors on 1.5 T and 3 T scanners and iron deficiency anemia on 1.5 T scanners. On 3 T scanners, T1-hyperintensity is associated with neuropsychiatric signs and symptoms, such as tremor, restless leg syndrome, and memory problems.


Assuntos
Anemia Ferropriva , Malformações Arteriovenosas , Síndrome das Pernas Inquietas , Telangiectasia Hemorrágica Hereditária , Humanos , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Manganês , Anemia Ferropriva/complicações , Anemia Ferropriva/patologia , Tremor/complicações , Tremor/patologia , Síndrome das Pernas Inquietas/complicações , Síndrome das Pernas Inquietas/patologia , Imageamento por Ressonância Magnética , Malformações Arteriovenosas/complicações , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Cirrose Hepática/complicações , Fatores de Risco , Doxorrubicina
14.
J Vasc Interv Radiol ; 34(9): 1609-1617.e2, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37187436

RESUMO

PURPOSE: To evaluate whether intraoperative neuromonitoring (IONM), including pre-embolization lidocaine injection challenge ("provocative testing") is associated with reduced risk of irreversible nerve injury during embolization of peripheral arteriovenous malformations (AVMs). MATERIALS AND METHODS: Medical records of patients with peripheral AVMs who underwent embolotherapy with IONM with provocative testing between 2012 and 2021 were reviewed retrospectively. Data collected included patient demographic characteristics, AVM location and size, embolic agent used, IONM signal changes after lidocaine and embolic agent injections, postprocedural adverse events, and clinical outcomes. Decisions regarding whether embolization would proceed at specific locations were based on IONM findings after the lidocaine challenge and as embolization proceeded. RESULTS: A cohort of 17 patients (mean age, 27 years ± 19; 5 women) who underwent 59 image-guided embolization procedures with adequate IONM data was identified. No permanent neurologic deficits occurred. Transient neurologic deficits were observed in 3 patients (4 sessions), comprising skin numbness (2 patients), extremity weakness (1 patient), and extremity weakness and numbness (1 patient). All neurologic deficits resolved by postoperative day 4 without additional treatment. CONCLUSIONS: IONM, including provocative testing, during AVM embolization may minimize potential nerve injury.


Assuntos
Embolização Terapêutica , Malformações Arteriovenosas Intracranianas , Humanos , Feminino , Adulto , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/terapia , Malformações Arteriovenosas Intracranianas/etiologia , Hipestesia/etiologia , Hipestesia/terapia , Estudos Retrospectivos , Embolização Terapêutica/efeitos adversos , Embolização Terapêutica/métodos , Injeções , Resultado do Tratamento
16.
Am J Med Genet A ; 191(6): 1570-1575, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36869625

RESUMO

Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin-1 or -2 (EXT1 or EXT2). It is characterized by the formation of multiple benign growing osteochondromas (exostoses) that most commonly affect the long bones; however, it may also occur throughout the body. Although many of these lesions are clinically asymptomatic, some can lead to chronic pain and skeletal deformities and interfere with adjacent neurovascular structures. Here, we report two unrelated probands that presented with a clinical and molecular diagnosis of HME with venous malformation, a clinical feature not previously reported in individuals with HME.


Assuntos
Exostose Múltipla Hereditária , Humanos , Exostose Múltipla Hereditária/diagnóstico , Exostose Múltipla Hereditária/genética , N-Acetilglucosaminiltransferases/genética , Mutação
17.
J Vasc Interv Radiol ; 34(5): 840-848.e5, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36758741

RESUMO

PURPOSE: To assess the responsiveness, defined as the ability to detect change in a patient's health or function, of the Patient-Reported Outcome Measure for Vascular Malformation (PROVAM) questionnaire in a cohort of patients with low-flow vascular malformations (VMs). MATERIALS AND METHODS: PROVAM was previously developed to assess symptoms, functional limitations, and social/emotional effects experienced by patients with VMs. This is a prospective cohort study of 56 patients with venous and lymphatic VMs who completed at least 2 PROVAM questionnaires, of whom 43 had undergone treatment with sclerotherapy in the interim between questionnaires. External responsiveness was assessed using a receiver operating characteristic (ROC) curve to ascertain whether a change in the total PROVAM score predicts whether patients reported symptom improvement and by correlating the change in the total PROVAM score and change in symptoms reported during clinic visit. Internal responsiveness was evaluated using Wilcoxon signed rank test, Cohen d effect size (ESp), and standard response mean difference (SRM). RESULTS: The total PROVAM score demonstrated excellent discrimination for symptom improvement with an area under the ROC curve of 0.856. There was a statistically significant, moderate positive correlation between the change in the total PROVAM score and the change in patient symptoms as determined from clinical visits (Spearman correlation coefficient [rs] = 0.67, P < .001). The total PROVAM score and all subdomain scores improved significantly after treatment (all P < .05). ESp and SRM were 0.80 and 0.83, respectively. CONCLUSIONS: PROVAM is responsive to improvement after treatment and may be useful to assess health-related quality of life in patients treated for VMs.


Assuntos
Qualidade de Vida , Malformações Vasculares , Humanos , Qualidade de Vida/psicologia , Estudos Prospectivos , Inquéritos e Questionários , Medidas de Resultados Relatados pelo Paciente , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/terapia , Resultado do Tratamento
18.
Am J Med Genet A ; 191(4): 983-994, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36710374

RESUMO

Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the brain, skin, and eye. SWS is most commonly caused by a somatic mosaic GNAQ-p.Arg183Gln variant. In this series, 12 patients presented for clinical evaluation of SWS but were noted to have atypical features, and therefore germline and/or somatic genetic testing was performed. Atypical features included extensive capillary malformation on the body as well as the face, frontal bossing, macrocephaly, telangiectasia, overgrowth of extremities, absence of neurologic signs and symptoms, and family history of vascular malformations. Five patients had a somatic GNAQ or GNA11 pathogenic variant, one patient had a somatic mosaic likely-pathogenic variant in PIK3CA, and another one had a somatic mosaic deletion that disrupted PTPRD. The other five patients had germline variants in RASA1, EPHB4, or KIT. Our findings suggest that patients presenting for SWS evaluation who have atypical clinical characteristics may have pathogenic germline or somatic variants in genes other than GNAQ or GNA11. Broad germline and somatic genetic testing in these patients with atypical findings may have implications for medical care, prognosis, and trial eligibility.


Assuntos
Síndrome de Sturge-Weber , Humanos , Síndrome de Sturge-Weber/genética , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Capilares/anormalidades , Pele/patologia , Testes Genéticos , Proteína p120 Ativadora de GTPase/genética
19.
Radiology ; 306(3): e212403, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36283115

RESUMO

Background Pre-liver transplant (LT) sarcopenia is associated with poor survival. Methods exist for measuring body composition with use of CT scans; however, it is unclear which components best predict post-LT outcomes. Purpose To quantify the association between abdominal CT-based body composition measurements and post-LT mortality in a large North American cohort. Materials and Methods This was a retrospective cohort of adult first-time deceased-donor LT recipients from 2009 to 2018 who underwent pre-LT abdominal CT scans, including at the L3 vertebral level, at Johns Hopkins Hospital. Measurements included sarcopenia (skeletal muscle index [SMI] <50 in men and <39 in women), sarcopenic obesity, myosteatosis (skeletal muscle CT attenuation <41 mean HU for body mass index [BMI] <25 and <33 mean HU for BMI ≥25), visceral adipose tissue (VAT), subcutaneous adipose tissue (SAT), and VAT/SAT ratio. Covariates in the adjusted models were selected with use of least absolute shrinkage and selection operator regression with lambda chosen by means of 10-fold cross-validation. Cox proportional hazards models were used to quantify associations with post-LT mortality. Model discrimination was quantified using the Harrell C-statistic. Results A total of 454 recipients (median age, 57 years [IQR, 50-62 years]; 294 men) were evaluated. In the adjusted model, pre-LT sarcopenia was associated with a higher hazard ratio (HR) of post-LT mortality (HR, 1.6 [95% CI: 1.1, 2.4]; C-statistic, 0.64; P = .02). SMI was significantly negatively associated with survival after adjustment for covariates. There was no evidence that myosteatosis was associated with mortality (HR, 1.3 [95% CI: 0.86, 2.1]; C-statistic, 0.64; P = .21). There was no evidence that BMI (HR, 1.2 [95% CI: 0.95, 1.4]), VAT (HR, 1.0 [95% CI: 0.98, 1.1]), SAT (HR, 1.0 [95% CI: 0.97, 1.0]), and VAT/SAT ratio (HR, 1.1 [95% CI: 0.90, 1.4]) were associated with mortality (P = .15-.77). Conclusions Sarcopenia, as assessed on routine pre-liver transplant (LT) abdominal CT scans, was the only factor significantly associated with post-LT mortality. © RSNA, 2022 See also the editorial by Ruehm in this issue.


Assuntos
Transplante de Fígado , Sarcopenia , Adulto , Masculino , Humanos , Feminino , Pessoa de Meia-Idade , Sarcopenia/complicações , Sarcopenia/diagnóstico por imagem , Estudos Retrospectivos , Doadores Vivos , Composição Corporal , Músculo Esquelético , Tomografia Computadorizada por Raios X/métodos
20.
Curr Probl Diagn Radiol ; 52(1): 35-40, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36030138

RESUMO

This study aimed to investigate the prevalence of hepatic steatosis in racially diverse adults presenting to the emergency department at a tertiary healthcare system in the United States using attenuation values on unenhanced computed tomography (CT) as the reference standard. The utility of known risk factors for predicting the presence of hepatic steatosis was assessed. Additionally, reporting of hepatic steatosis in original radiology reports was evaluated. For 381 consecutive adults (193 women and 188 men; mean age 55.2 ± 17.2 years), hepatic (left medial, left lateral, right anterior, and right posterior) and splenic (upper, middle, and lower) CT attenuation values (Hounsfield units) were obtained by drawing a 1 cm2 region of interest on unenhanced chest CT obtained in the emergency department for any indication. Multiple attenuation criteria for steatosis, including liver thresholds and liver and spleen attenuation comparison, were applied. Relevant clinical risk factors were recorded and compared against a liver/ spleen attenuation ratio of ≤ 1.1 to include all individuals with steatosis in the analysis. Mean liver attenuation was 59.5 ± 10.4 HU. The prevalence of hepatic steatosis ranged from 5-35.4% depending on the CT attenuation criterion used (5%, liver attenuation ≤ 40 HU; 6.3%, liver attenuation ≤ (spleen attenuation - 10 HU); 16.8%, liver attenuation ≤ spleen attenuation; 34.1%, liver attenuation ≤ (spleen attenuation + 5 HU); 35.4%, liver attenuation/ spleen attenuation ≤ 1.1). The prevalence of hepatic steatosis was higher in males compared to females (P = 0.01, 42% vs 29%) and age 40-65 years when compared to the rest (P = 0.03, 43.5% vs 32.2%), but similar across different racial (P = 0.55), ethnic (P = 0.78) groups. Overweight status (body mass index >25) and hypertension were sensitive indicator for steatosis (sensitivity = 60.7% and 60.5%) but were highly nonspecific (specificity = 41.9% and 49.2%). Other clinical risk factors, such as diabetes, dyslipidemia, alcohol overuse, and hepatitis, were more specific (specificity = 62.2%-93.9%) but highly insensitive (sensitivity = 7.5%-40.3%). 63% (12/19) radiology reports mentioned the presence of moderate-to-severe hepatic steatosis but only 11.1% (15/135) of them mentioned the presence of mild hepatic steatosis. Unenhanced chest CT can be used to assess hepatic steatosis for individuals presenting to the emergency department and provide a non-invasive means for opportunistic screening.


Assuntos
Fígado Gorduroso , Adulto , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Prevalência , Sensibilidade e Especificidade , Fígado Gorduroso/diagnóstico por imagem , Fígado Gorduroso/epidemiologia , Tomografia Computadorizada por Raios X/métodos , Estudos Retrospectivos , Serviço Hospitalar de Emergência
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