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1.
N Engl J Med ; 391(11): 1015-1027, 2024 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-39292928

RESUMO

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is characterized by extensive telangiectasias and arteriovenous malformations. The primary clinical manifestation is epistaxis that results in iron-deficiency anemia and reduced health-related quality of life. METHODS: We conducted a randomized, placebo-controlled trial to evaluate the safety and efficacy of pomalidomide for the treatment of HHT. We randomly assigned patients, in a 2:1 ratio, to receive pomalidomide at a dose of 4 mg daily or matching placebo for 24 weeks. The primary outcome was the change from baseline through week 24 in the Epistaxis Severity Score (a validated bleeding score in HHT; range, 0 to 10, with higher scores indicating worse bleeding). A reduction of 0.71 points or more is considered clinically significant. A key secondary outcome was the HHT-specific quality-of-life score (range, 0 to 16, with higher scores indicating more limitations). RESULTS: The trial was closed to enrollment in June 2023 after a planned interim analysis met a prespecified threshold for efficacy. A total of 144 patients underwent randomization; 95 patients were assigned to receive pomalidomide and 49 to receive placebo. The baseline mean (±SD) Epistaxis Severity Score was 5.0±1.5, a finding consistent with moderate-to-severe epistaxis. At 24 weeks, the mean difference between the pomalidomide group and the placebo group in the change from baseline in the Epistaxis Severity Score was -0.94 points (95% confidence interval [CI], -1.57 to -0.31; P = 0.004). The mean difference in the changes in the HHT-specific quality-of-life score between the groups was -1.4 points (95% CI, -2.6 to -0.3). Adverse events that were more common in the pomalidomide group than in the placebo group included neutropenia, constipation, and rash. CONCLUSIONS: Among patients with HHT, pomalidomide treatment resulted in a significant, clinically relevant reduction in epistaxis severity. No unexpected safety signals were identified. (Funded by the National Heart, Lung, and Blood Institute; PATH-HHT Clinicaltrials.gov number, NCT03910244).


Assuntos
Epistaxe , Telangiectasia Hemorrágica Hereditária , Talidomida , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inibidores da Angiogênese/administração & dosagem , Inibidores da Angiogênese/efeitos adversos , Método Duplo-Cego , Epistaxe/diagnóstico , Epistaxe/tratamento farmacológico , Epistaxe/etiologia , Epistaxe/psicologia , Qualidade de Vida , Índice de Gravidade de Doença , Telangiectasia Hemorrágica Hereditária/complicações , Telangiectasia Hemorrágica Hereditária/tratamento farmacológico , Talidomida/administração & dosagem , Talidomida/efeitos adversos , Talidomida/análogos & derivados , Resultado do Tratamento , Neutropenia/induzido quimicamente , Neutropenia/epidemiologia , Constipação Intestinal/induzido quimicamente , Constipação Intestinal/epidemiologia , Toxidermias/epidemiologia , Toxidermias/etiologia
2.
Am J Transplant ; 24(4): 591-605, 2024 Apr.
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.


Assuntos
Transplante de Rim , Sarcopenia , Humanos , Sarcopenia/diagnóstico por imagem , Sarcopenia/etiologia , Medição de Risco/métodos , Estudos Retrospectivos , Obesidade , Atrofia Muscular , Tomografia Computadorizada por Raios X , Composição Corporal
3.
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
4.
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
5.
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
6.
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
7.
J Vasc Interv Radiol ; 34(1): 4-10.e3, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36167300

RESUMO

PURPOSE: To evaluate the racial and ethnic representation of transarterial therapy for hepatocellular carcinoma (HCC) clinical trials in the United States. MATERIALS AND METHODS: The ClinicalTrials.gov database was examined to identify all completed studies with transarterial therapies for the management of HCC in the United States and extract information about the observed number of participants for each racial and ethnic group (based on the Office of Management and Budget definitions). The expected number of participants was calculated by multiplying the total number of participants in a trial with the U.S.-population HCC-based proportion for each group. The effects of the study phase, funding source, number of centers involved in the study, and the location of the participating center on racial and ethnic distribution were explored. RESULTS: Seventy-nine relevant studies were identified, of which 27 (34.2%) and 18 (22.8%) reported ethnic and race characteristics, respectively. Most study participants were White (81%, 1,591/1,964) by ethnicity and not Hispanic or Latino (93%, 937/1,008) by race. In terms of the observed-to-expected ratios by race and ethnicity in all trials, White and not Hispanic or Latino participants were overrepresented with a ratio of 1.22 (1.10-1.37) and 1.33 (1.26-1.41), respectively, and all other racial and ethnic groups were underrepresented. The enrollment of African Americans and Asian Americans varied by the study phase, and a higher enrollment of African Americans was noted in the National Institutes of Health-funded and multicenter studies (P < .05). CONCLUSIONS: This cross-sectional study demonstrates that in HCC transarterial therapy clinical trials, racial and ethnic minorities were underrepresented and the majority of the studies identified failed to report this demographic information.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Humanos , Carcinoma Hepatocelular/terapia , Estudos Transversais , Etnicidade , Hispânico ou Latino , Neoplasias Hepáticas/terapia , Estados Unidos , Brancos , Negro ou Afro-Americano , Asiático
8.
J Vasc Interv Radiol ; 34(3): 485-490, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36400118

RESUMO

The Society of Interventional Radiology Foundation (SIRF) aims to support interventional radiology (IR) investigators by awarding numerous grants to promote the advancement of scientific knowledge in IR. Over the last 19 years, SIRF has awarded 227 research grants, amounting to more than $4.7 million. To increase the engagement of interventional radiologists and IR scientists with the National Institutes of Health (NIH), SIRF created a SIRF/NIH taskforce in 2020. Over the past couple of years, the task force has been working to assess the return on investment of SIRF grants in terms of NIH funding because this metric is an effective measure of assessing the early success of foundation funding. The objectives of this report are to assess SIRF funding from 2002 to 2020 and investigate the conversion of this funding into NIH grants by the same investigators. During the study period, more than $37.6 million in NIH funds were awarded to SIRF awardees, which shows a return of 8 NIH dollars for every 1 SIRF dollar invested.


Assuntos
Pesquisa Biomédica , Médicos , Estados Unidos , Humanos , Radiologia Intervencionista , National Institutes of Health (U.S.) , Organização do Financiamento , Pesquisadores
9.
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
10.
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
11.
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
12.
AJR Am J Roentgenol ; 220(1): 95-103, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35946857

RESUMO

BACKGROUND. Endovascular embolization of pulmonary arteriovenous malformations (PAVMs) was historically performed with embolic coils. The Amplatzer Vascular Plug device (AVP) was introduced for this purpose in 2007 and the Micro Vascular Plug device (MVP) in 2013. OBJECTIVE. The purpose of this study was to compare coils, AVPs, and MVPs in terms of risk of persistence after PAVM embolization by use of propensity score weighting to account for biases in device selection. METHODS. This retrospective study included 112 patients (78 women and girls, 34 men and boys; mean age, 45 years) who underwent embolization of 393 PAVMs with a single device type (coil, MVP, or AVP) from January 2003 to January 2020. Persistence was defined as less than 70% reduction in PAVM sac size or contrast enhancement of the sac on follow-up pulmonary CTA. A Cox proportional hazards regression model was used to assess associations between embolic device selection and PAVM persistence. Inverse propensity score weighting was used to account for differences in embolic device selection based on patient and PAVM characteristics. RESULTS. The median postembolization follow-up period was 1.5 years (IQR, 0.3-5.6 years). Persistence was found in 10% (41/393) of PAVMs, including 16% (34/207) of those treated with coils, 8% (7/88) of those treated with AVPs, and 0% (0/98) of those treated with MVPs. Variables associated with embolization device (p < .25) were age, sex, pediatric versus adult status, smoking status, PAVM complexity, PAVM laterality, number of feeding arteries, and feeding artery diameter. The Cox regression model incorporated inverse propensity score weighting to account for the differences between treatment groups in these variables and incorporated feeding artery diameter because of imbalance remaining after weighting. With coils as the referent, MVPs had a hazard ratio for persistence of less than 0.01 (95% CI, < 0.01 to < 0.01; p < .001), and AVPs had a hazard ratio of 0.37 (95% CI, 0.16-0.90; p = .03). CONCLUSION. The risk of persistence after PAVM embolization was significantly lower for MVPs alone than for coils or AVPs alone. In addition, the risk of persistence was lower for AVPs than for coils. CLINICAL IMPACT. The findings support the clinical use of MVPs as the preferred device for PAVM embolization over coils and polytetrafluoroethylene-covered plugs.


Assuntos
Malformações Arteriovenosas , Embolização Terapêutica , Veias Pulmonares , Adulto , Masculino , Humanos , Feminino , Criança , Pessoa de Meia-Idade , Estudos Retrospectivos , Pontuação de Propensão , Resultado do Tratamento , Malformações Arteriovenosas/diagnóstico por imagem , Malformações Arteriovenosas/terapia , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/anormalidades , Embolização Terapêutica/métodos
13.
Am J Transplant ; 22(4): 1145-1157, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34953170

RESUMO

Kidney transplantation (KT) experts did not support the use of subjective unintentional weight loss to measure shrinking in the physical frailty phenotype (PFP); a clinically feasible and predictive measure of shrinking is needed. To test whether unintentional weight loss could be replaced by an assessment of sarcopenia using existing CT scans, we performed a prospective cohort study of adult KT recipients with original PFP (oPFP) measured at admission (December 2008-February 2020). We ascertained sarcopenia by calculating skeletal muscle index from available, clinically obtained CTs within 1-year pre-KT (male < 50 cm2 /m2 ; female < 39 cm2 /m2 ) and combined it with the original four components to determine new PFP (nPFP) scores. Frailty was classified by frailty score: 0: non-frail; 1-2: pre-frail; ≥3: frail. Mortality and graft loss hazard ratios (HRs) were estimated using adjusted Cox proportional hazard models. Model discrimination was quantified using Harrell's C-statistic. Among 1113 recipients, 18.6% and 17.1% were frail by oPFP and nPFP, respectively. Compared to non-frail recipients, frail patients by either PFP had higher risks of mortality (oPFP HR = 1.67, 95% CI: 1.07-2.62, C = 0.710; nPFP HR = 1.68, 95% CI: 1.06-2.66, C = 0.710) and graft loss (oPFP HR = 1.67, 95% CI: 1.17-2.40, C = 0.631; nPFP HR = 1.66, 95% CI: 1.15-2.40, C = 0.634) with similar discriminations. oPFP and nPFP are equally useful in risk prediction for KT recipients; oPFP may aid in screening patients for pre-KT interventions, while nPFP may assist in nuanced clinical decision-making.


Assuntos
Fragilidade , Falência Renal Crônica , Transplante de Rim , Sarcopenia , Idoso , Feminino , Idoso Fragilizado , Fragilidade/diagnóstico , Humanos , Transplante de Rim/efeitos adversos , Masculino , Fenótipo , Estudos Prospectivos , Fatores de Risco , Sarcopenia/diagnóstico por imagem , Sarcopenia/etiologia , Tomografia Computadorizada por Raios X , Transplantados , Redução de Peso
14.
Radiology ; 304(3): 509-515, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35536132

RESUMO

A 68-year-old woman with a history of hepatocellular carcinoma underwent conventional transarterial chemoembolization. Manual tumor segmentation on images, which can be used to assess disease progression, is time consuming and may suffer from interobserver reliability issues. The authors present a how-to guide to develop machine learning algorithms for fully automatic segmentation of hepatocellular carcinoma and other tumors for lesion tracking over time.


Assuntos
Carcinoma Hepatocelular , Quimioembolização Terapêutica , Neoplasias Hepáticas , Radiologia , Idoso , Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/terapia , Quimioembolização Terapêutica/métodos , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/terapia , Aprendizado de Máquina , Imageamento por Ressonância Magnética/métodos , Reprodutibilidade dos Testes
15.
Clin Genet ; 101(3): 275-284, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34415050

RESUMO

Genetic counseling is an important means of identifying a patient's genetic risk of hereditary hemorrhagic telangiectasia (HHT) and assisting patients in making informed decisions about their health. With an increase in understanding of the genetic mechanisms underlying HHT over the last decade, genetic counseling is increasingly being incorporated into the care of patients affected by HHT. In addition to refining the diagnosis of symptomatic patients, genetic testing can help to distinguish asymptomatic, at-risk patients from those who are unaffected by HHT. The purpose of this review article is to summarize the current knowledge regarding the role of genetic counseling and genetic testing in identifying and managing HHT in at-risk populations. This article also reviews the guidelines, outcomes, risks, and challenges of genetic counseling and testing for HHT in various patient populations, and provides an algorithm for the use of genetic counseling in symptomatic and asymptomatic patients.


Assuntos
Telangiectasia Hemorrágica Hereditária , Aconselhamento Genético , Testes Genéticos , Humanos , Fatores de Risco , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética
16.
Am J Med Genet A ; 188(1): 199-209, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34611981

RESUMO

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant fibrovascular dysplasia caused by mutations in ENG, ACVRL1, and SMAD4. Increasingly, there has been an appreciation for vascular conditions with phenotypic overlap to HHT but which have distinct clinical manifestations and arise from novel or uncharacterized gene variants. This study reported on a cohort of four unrelated probands who were diagnosed with a rare form of GDF2-related HHT5, for which only five prior cases have been described. Two patients harbored heterozygous missense variants not previously annotated as pathogenic (p.Val403Ile; p.Glu355Gln). Clinically, these patients had features resembling HHT1, including cerebrovascular involvement of their disease (first report documenting cerebral involvement of HHT5), but with earlier onset of epistaxis and a unique anatomic distribution of dermal capillary lesions that involved the upper forelimbs, trunk, and head. The other two patients harbored interstitial deletions larger than five megabases between 10q11.22 and 10q11.23 that included GDF2. To our knowledge, this is the first report detailing large genomic deletions leading to HHT5. These patients also demonstrated mucocutaneous capillary dysplasias, including intranasal vascular lesions complicated by childhood-onset epistasis, with a number of extravascular findings related to their 10q11.21q11.23 deletion. In conclusion, patients with GDF2-related HHT may present with a number of unique characteristics that differ from classically reported features of HHT.


Assuntos
Fator 2 de Diferenciação de Crescimento , Mutação de Sentido Incorreto , Telangiectasia Hemorrágica Hereditária , Receptores de Activinas Tipo II/genética , Criança , Endoglina/genética , Fator 2 de Diferenciação de Crescimento/genética , Heterozigoto , Humanos , Telangiectasia Hemorrágica Hereditária/diagnóstico , Telangiectasia Hemorrágica Hereditária/genética , Telangiectasia Hemorrágica Hereditária/patologia
17.
J Vasc Interv Radiol ; 33(11): 1349-1354, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35850453

RESUMO

Congenital hemangiomas (CHs) are rare, benign vascular tumors that are present at birth. They are divided into 3 major subtypes: rapidly involuting CHs, partially involuting CHs, and noninvoluting CHs (NICHs). There is a paucity of data in the literature regarding NICH and its management. Most symptomatic patients with NICH are managed with surgery. However, endovascular embolization, direct percutaneous sclerotherapy, or laser treatment can be used on a case-by-case basis. In this report, 3 cases with peripheral symptomatic NICH treated with percutaneous cryoablation are presented.


Assuntos
Criocirurgia , Embolização Terapêutica , Hemangioma , Neoplasias Vasculares , Recém-Nascido , Humanos , Hemangioma/diagnóstico por imagem , Hemangioma/cirurgia , Hemangioma/congênito , Escleroterapia
18.
J Vasc Interv Radiol ; 33(11): 1355-1360, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35995122

RESUMO

Transhepatic percutaneous cholangioscopy (PC) can be used for the diagnosis and treatment of biliary pathology. It allows for direct visualization of the biliary system to identify pathologic changes, perform biopsies, and treat biliary obstruction. The effectiveness and safety of PC in adults have been established. However, the data on the use of PC in pediatric patients are limited. In this case series, the outcomes in 4 pediatric patients (3 girls; mean age, 4 [range, 1-8] years) who underwent 6 PC procedures were examined. Three out of the 6 (50%) PC procedures were performed for diagnostic visualization of the biliary tree and/or small intestine, whereas the remaining 3 (50%) were performed for the treatment of biliary obstruction causing chronic cholestasis. The technical and procedural success rate was 100%, and no complications were encountered during or 30 days after the procedure. This study supports the feasibility and safety of PC in pediatric patients for the management of biliary pathology.


Assuntos
Sistema Biliar , Colestase , Laparoscopia , Adulto , Feminino , Humanos , Criança , Pré-Escolar , Resultado do Tratamento , Colestase/diagnóstico por imagem , Colestase/etiologia , Colestase/terapia , Sistema Biliar/diagnóstico por imagem , Laparoscopia/efeitos adversos , Drenagem/efeitos adversos
19.
J Vasc Interv Radiol ; 33(1): 28-32, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34980451

RESUMO

This study aimed to identify the ideal arteriole size to target in bariatric embolization, with the goal of maximizing weight loss efficacy while maintaining patient safety. Although all published clinical trials of bariatric embolization have used embolic microspheres that were at least 300 µm in diameter, optimal weight loss outcomes have been achieved safely in swine using 50-µm embolics. Human fundal remnants from bariatric surgery were compared with swine fundal sections after bariatric embolization with 50-µm embolic microspheres to assess the ideal fundal vessel size for bariatric embolization. In swine, the 50-µm embolic microspheres deposited in the luminal half of the submucosa with a mean arteriole size of 49 µm ± 30. The mean arteriole diameter in the corresponding submucosal layer of the human gastric fundi was 40 µm ± 30. These measurements may inform future clinical trials and direct the development of embolic agents for bariatric embolization.


Assuntos
Bariatria , Embolização Terapêutica , Animais , Fundo Gástrico/patologia , Humanos , Microesferas , Suínos , Redução de Peso
20.
J Vasc Interv Radiol ; 33(6): 648-652.e2, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35636834

RESUMO

This study evaluated fundal arteriole angiographic revascularization after embolization with embolic microspheres of 3 different diameters in a swine model (16 swine, 31 arterioles). In the 50-µm group, 7 of 11 (64%) arterioles recanalized completely, 3 of 11 (27%) arterioles recanalized partially, and 1 of 11 (9%) arterioles had collateralization (no recanalization). In the 100- to 300-µm group, 7 of 10 (70%) arterioles recanalized completely and 3 of 10 (30%) arterioles) recanalized partially. In the 300- to 500-µm group, 7 of 10 (70%) arterioles recanalized completely, 1 of 10 (10%) arterioles recanalized partially, and 2 of 10 (20%) arterioles had collateralization. No difference was found between the groups in the degree of recanalization (P = .64). All embolized arterioles exhibited some degree of angiographic revascularization, irrespective of the microsphere size.


Assuntos
Bariatria , Embolização Terapêutica , Angiografia , Animais , Humanos , Microesferas , Suínos , Procedimentos Cirúrgicos Vasculares
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