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BACKGROUND: Accurate differentiation of pseudoprogression (PsP) from tumor progression (TP) in glioblastomas (GBMs) is essential for appropriate clinical management and prognostication of these patients. In the present study, we sought to validate the findings of our previously developed multiparametric MRI model in a new cohort of GBM patients treated with standard therapy in identifying PsP cases. METHODS: Fifty-six GBM patients demonstrating enhancing lesions within 6 months after completion of concurrent chemo-radiotherapy (CCRT) underwent anatomical imaging, diffusion and perfusion MRI on a 3 T magnet. Subsequently, patients were classified as TP + mixed tumor (n = 37) and PsP (n = 19). When tumor specimens were available from repeat surgery, histopathologic findings were used to identify TP + mixed tumor (> 25% malignant features; n = 34) or PsP (< 25% malignant features; n = 16). In case of non-availability of tumor specimens, ≥ 2 consecutive conventional MRIs using mRANO criteria were used to determine TP + mixed tumor (n = 3) or PsP (n = 3). The multiparametric MRI-based prediction model consisted of predictive probabilities (PP) of tumor progression computed from diffusion and perfusion MRI derived parameters from contrast enhancing regions. In the next step, PP values were used to characterize each lesion as PsP or TP+ mixed tumor. The lesions were considered as PsP if the PP value was < 50% and TP+ mixed tumor if the PP value was ≥ 50%. Pearson test was used to determine the concordance correlation coefficient between PP values and histopathology/mRANO criteria. The area under ROC curve (AUC) was used as a quantitative measure for assessing the discriminatory accuracy of the prediction model in identifying PsP and TP+ mixed tumor. RESULTS: Multiparametric MRI model correctly predicted PsP in 95% (18/19) and TP+ mixed tumor in 57% of cases (21/37) with an overall concordance rate of 70% (39/56) with final diagnosis as determined by histopathology/mRANO criteria. There was a significant concordant correlation coefficient between PP values and histopathology/mRANO criteria (r = 0.56; p < 0.001). The ROC analyses revealed an accuracy of 75.7% in distinguishing PsP from TP+ mixed tumor. Leave-one-out cross-validation test revealed that 73.2% of cases were correctly classified as PsP and TP + mixed tumor. CONCLUSIONS: Our multiparametric MRI based prediction model may be helpful in identifying PsP in GBM patients.
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Neoplasias Encefálicas , Glioblastoma , Imágenes de Resonancia Magnética Multiparamétrica , Humanos , Glioblastoma/patología , Neoplasias Encefálicas/patología , Progresión de la Enfermedad , Imagen por Resonancia Magnética , Estudios RetrospectivosRESUMEN
Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke due to rupture of lesions as well as seizures and neurological defects. The most common forms of cerebrovascular malformations are brain arteriovenous malformations (bAVMs) and cerebral cavernous malformations (CCMs). They occur in both sporadic and inherited forms. Rapidly evolving molecular genetic methodologies have helped to identify causative or associated genes involved in genesis of bAVMs and CCMs. In this review, we highlight the current knowledge regarding the genetic basis of these malformations.
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Malformaciones Arteriovenosas , Hemangioma Cavernoso del Sistema Nervioso Central , Humanos , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Encéfalo , ConvulsionesRESUMEN
BACKGROUND & PURPOSE: Perfusion collateral index (PCI) has been recently defined as a promising measure of collateral status. We sought to compare collateral status assessed via CT-PCI in comparison to single-phase CTA and their relationship to outcome measures including final infarction volume, final recanalization status and functional outcome in ELVO patients. METHODS: ELVO patients with anterior circulation large vessel occlusion who had baseline CTA and CT perfusion and underwent endovascular treatment were included. Collateral status was assessed on CTA. PCI from CT perfusion was calculated in each patient and an optimal threshold to separate good vs insufficient collaterals was identified using DSA as reference. The collateral status determined by CTA and PCI were assessed against 3 measured outcomes: 1) final infarction volume; 2) final recanalization status defined by TICI scores; 3) functional outcome measured by 90-day mRS. RESULTS: A total of 53 patients met inclusion criteria. Excellent recanalization defined by TICI ≥2C was achieved in 36 (68%) patients and 23 patients (43%) had good functional outcome (mRS ≤2). While having good collaterals on both CTA and CTP-PCI was associated with significantly (p<0.05) smaller final infarction volume, only good collaterals status determined by CTP-PCI was associated with achieving excellent recanalization (p = 0.001) and good functional outcome (p = 0.003). CONCLUSION: CTP-based PCI outperforms CTA collateral scores in determination of excellent recanalization and good functional outcome and may be a promising imaging marker of collateral status in patients with delayed presentation of AIS.
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Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Isquemia Encefálica/diagnóstico por imagen , Isquemia Encefálica/terapia , Angiografía Cerebral/métodos , Circulación Colateral , Angiografía por Tomografía Computarizada , Humanos , Perfusión , Estudios Retrospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Resultado del TratamientoRESUMEN
PURPOSE: The choice of surgical procedure for rectal prolapse (RP) is challenging because of the high recurrence and morbidity rates. We aimed to clarify whether laparoscopic suture rectopexy (lap-rectopexy) is suitable for Japanese patients with recurrent RP. METHODS: We retrospectively evaluated 77 recurrent RP patients who had been treated on average 1.5 times between June 2008 and April 2016. Forty-one patients underwent lap-rectopexy and 36 underwent perineal procedures. We compared surgical outcomes and recurrence rate following surgery between the two groups. The multivariable logistic regression analysis was performed to determine risk factors of recurrent RP. RESULTS: In patients' characteristics, significant differences were observed in the type of anesthesia (p < 0.01) and length of recurrent RP (p = 0.030). The mean operative time was significantly longer in the lap-rectopexy group (p < 0.001). Blood loss, length of hospitalization, and postoperative complications were similar. The recurrence rate was significantly lower in the lap-rectopexy group (17.1% vs. 38.9%, p = 0.032). Multivariate analysis showed that only the laparoscopic approach was significantly associated with a low recurrence following surgery (odds ratio 0.273, 95% CI - 2.568 to - 0.032). CONCLUSION: Lap-rectopexy is recommended for recurrent RP because its low recurrence rate and safety profile are similar to those of perineal procedures.
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Endoscopía Gastrointestinal/métodos , Laparoscopía/métodos , Prolapso Rectal/cirugía , Recto/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Japón , Modelos Logísticos , Masculino , Persona de Mediana Edad , Tempo Operativo , Prolapso Rectal/epidemiología , Prolapso Rectal/etiología , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Seguridad , Prevención Secundaria/métodos , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVES: An association has been reported between delays in the onset-to-door (O2D) time for mechanical thrombectomy (MT) and outbreaks of coronavirus disease 2019 (COVID-19). However, the association between other MT time courses or functional outcomes and COVID-19 outbreaks remains unclear. We compared the time courses of stroke pathways or functional outcomes in 2020 (the COVID-19 era) with those in 2019 (the pre-COVID-19 era) in Tokyo, Japan. MATERIALS AND METHODS: This retrospective observational study used data from the Tokyo-tama-REgistry of Acute endovascular Thrombectomy (TREAT), a multicenter registry of MT for acute large vessel occlusion in the Tokyo Metropolitan Area. Patients who had undergone acute MT from January 2019 to December 2020 were included. Patients were classified by the year they had undergone MT (2019 or 2020). RESULTS: In total, 477 patients were analyzed. O2D time was significantly longer in 2020 (146.0 min) than in 2019 (105.0 min; p = 0.034). No significant difference in door-to-puncture time (D2P) time or modified Rankin Scale (mRS) score 0-2 at 90 days was seen between 2019 and 2020. In the subgroup analysis, O2D time was significantly longer in the first half of 2020 compared with 2019. Multivariable logistic regression analysis revealed that the year 2020 was a independent predictor of longer O2D time, but not for mRS score 0-2 at 90 days. CONCLUSIONS: Although O2D time was significantly longer in the COVID-19 compared with the pre-COVID-19 era, D2P may not be significantly delayed and functional outcomes may not be different, despite the COVID-19 pandemic.
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COVID-19 , Pautas de la Práctica en Medicina/tendencias , Accidente Cerebrovascular/terapia , Trombectomía/tendencias , Tiempo de Tratamiento/tendencias , Asignación de Recursos para la Atención de Salud/tendencias , Necesidades y Demandas de Servicios de Salud/tendencias , Humanos , Sistema de Registros , Estudios Retrospectivos , Accidente Cerebrovascular/diagnóstico , Factores de Tiempo , Tokio , Resultado del TratamientoRESUMEN
Patients with gliomas, isocitrate dehydrogenase 1 (IDH1) mutation status have been studied as a prognostic indicator. Recent advances in machine learning (ML) have demonstrated promise in utilizing radiomic features to study disease processes in the brain. We investigate whether ML analysis of multiparametric radiomic features from preoperative Magnetic Resonance Imaging (MRI) can predict IDH1 mutation status in patients with glioma. This retrospective study included patients with glioma with known IDH1 status and preoperative MRI. Radiomic features were extracted from Fluid-Attenuated Inversion Recovery (FLAIR) and Diffused Weighted Imaging (DWI). The dataset was split into training, validation, and testing sets by stratified sampling. Synthetic Minority Oversampling Technique (SMOTE) was applied to the training sets. eXtreme Gradient Boosting (XGBoost) classifiers were trained, and the hyperparameters were tuned. Receiver operating characteristic curve (ROC), accuracy, and f1-scores were collected. A total of 100 patients (age: 55 ± 15, M/F 60/40); with IDH1 mutant (n = 22) and IDH1 wildtype (n = 78) were included. The best performance was seen with a DWI-trained XGBoost model, which achieved ROC with Area Under the Curve (AUC) of 0.97, accuracy of 0.90, and f1-score of 0.75 on the test set. The FLAIR-trained XGBoost model achieved ROC with AUC of 0.95, accuracy of 0.90, f1-score of 0.75 on the test set. A model that was trained on combined FLAIR-DWI radiomic features did not provide incremental accuracy. The results show that a XGBoost classifier using multiparametric radiomic features derived from preoperative MRI can predict IDH1 mutation status with > 90% accuracy.
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Neoplasias Encefálicas/diagnóstico por imagen , Glioma/diagnóstico por imagen , Isocitrato Deshidrogenasa/genética , Mutación , Adulto , Anciano , Anciano de 80 o más Años , Algoritmos , Área Bajo la Curva , Neoplasias Encefálicas/genética , Imagen de Difusión por Resonancia Magnética , Femenino , Glioma/genética , Humanos , Aprendizaje Automático , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
Sertoli-Leydig cell tumors are a group of tumors composed of variable proportions of Sertoli cells, Leydig cells, and sometimes heterologous elements. We describe the case of a 68-yr-old woman who presented with abdominal distention. A computed tomographic scan revealed a large right adnexal mass without evidence of intrahepatic tumors, and a complete cytoreductive surgery was performed. Pathologic examination revealed a moderately differentiated Sertoli-Leydig cell tumor with various heterologous elements, including gastrointestinal-type glands, insular carcinoid, and aggregations of hepatocytes without significant cytologic atypia. Moreover, adjacent to these hepatocytes, extensive overgrowth of highly atypical hepatocyte-like cells, providing a striking morphologic similarity to hepatocellular carcinoma of the liver, was identified. Both the heterologous hepatocytes and hepatocellular carcinomatous tumor cells were immunohistochemically positive for alpha-fetoprotein, hepatocyte paraffin 1, and arginase-1. Some Sertoli cells adjacent to the heterologous hepatocytes were also positive for alpha-fetoprotein and hepatocyte paraffin 1. The present case showed that a tumor morphologically and immunohistochemically analogous to hepatocellular carcinoma of the liver can arise in the ovary, in association with Sertoli-Leydig cell tumors.
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Antineoplásicos/uso terapéutico , Biomarcadores de Tumor/análisis , Carcinoma Hepatocelular/diagnóstico por imagen , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Tumor de Células de Sertoli-Leydig/diagnóstico por imagen , Anciano , Antígenos de Neoplasias/análisis , Arginasa/análisis , Carboplatino/uso terapéutico , Carcinoma Hepatocelular/tratamiento farmacológico , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/cirugía , Femenino , Hepatocitos/patología , Humanos , Inmunohistoquímica , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/cirugía , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/patología , Neoplasias Ováricas/cirugía , Ovario/patología , Paclitaxel/uso terapéutico , Tumor de Células de Sertoli-Leydig/tratamiento farmacológico , Tumor de Células de Sertoli-Leydig/patología , Tumor de Células de Sertoli-Leydig/cirugía , Tomografía Computarizada por Rayos X , alfa-Fetoproteínas/análisisRESUMEN
Treatment of acute ischemic stroke (AIS) has evolved significantly in the past few years. Endovascular treatment (EVT) is now proved to be efficacious up to 24 hours from onset in properly selected patients. The recently updated 2018 American Heart Association-American Stroke Association guidelines reflect the important role of imaging in triage and patient selection for EVT of AIS. Pretreatment imaging in patients with acute stroke should (a) allow assessment for intracranial hemorrhage and demonstrate (b) the extent of early ischemic changes, (c) the presence of large arterial occlusion, and (d) in some cases potential salvageable tissue before the decision to proceed with EVT. The authors review how multimodality imaging can be used for EVT selection in the context of the recent guidelines. They highlight the importance of having streamlined imaging workflows that are integrated with clinical decision making to maximize treatment efficiency. Knowledge of the various imaging criteria including perfusion imaging used for EVT selection is highlighted. The authors discuss variable imaging paradigms used for selection of patients in the early and late windows (who present before vs after 6 hours from onset of symptoms), as reflected in the latest guidelines and in relation to their level of evidence. Finally, they focus on challenges in the subgroups of patients who were excluded from recent EVT trials and with limited evidence to prove the efficacy of EVT, such as patients with low NIHSS (National Institutes of Health Stroke Scale) score, distal occlusion, or large ischemic core. ©RSNA, 2019 See discussion on this article by Leslie-Mazwi.
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Isquemia Encefálica/diagnóstico por imagen , Isquemia Encefálica/cirugía , Procedimientos Endovasculares , Imagen por Resonancia Magnética , Neuroimagen , Selección de Paciente , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/cirugía , Tomografía Computarizada por Rayos X , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Neuroimagen/métodos , Accidente Cerebrovascular/etiología , Tomografía Computarizada por Rayos X/métodosRESUMEN
Intravascular large B-cell lymphoma (IVLBCL) is a distinct disease, but the neoplastic PD-L1 expression on tumor cells may vary among cases. We evaluated 10 IVLBCL autopsy cases for neoplastic PD-L1 expression, and had positive results in two cases. In one case, neoplastic PD-L1 expression (SP142, 28-8, and E1J2J clones) was dependent on the organ and anatomical site (capillaries vs. vessels) of the tumor tissue. Neoplastic PD-L1 expression was found in tumor cells located in capillaries in the central nervous system, pituitary gland, kidneys, lung, and gastrointestinal tract; sinuses/sinusoids of the spleen, liver, bone marrow, and lymph nodes; and an extravascular location. However, this expression was not detected in tumor cells located in the adrenal gland, thyroid gland, pancreas, ovaries, uterus, pleura, and small or larger-sized vessels of the lung. The other case showed constant neoplastic PD-L1 expression on the tumor cells, and in addition to the affected organs, capillaries, and vessels with two anti-PD-L1 antibodies (28-8 and E1J2J, but not SP142). The divergence and heterogeneity of neoplastic PD-L1 expression were clearly demonstrated in our cases. To the best of our knowledge, this is the first description of divergent neoplastic PD-L1 expression among the affected organs and anatomical sites in IVLBCL.
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Antígeno B7-H1/metabolismo , Biomarcadores de Tumor/inmunología , Neoplasias Pulmonares/patología , Linfoma de Células B Grandes Difuso/patología , Autopsia/métodos , Femenino , Humanos , Inmunohistoquímica/métodos , Neoplasias Pulmonares/inmunología , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/inmunología , Masculino , Persona de Mediana EdadRESUMEN
Background and Purpose- Estimation of infarction based on computed tomographic perfusion (CTP) has been challenging, mainly because of noise associated with CTP data. The Bayesian method is a robust probabilistic method that minimizes effects of oscillation, tracer delay, and noise during residue function estimation compared with other deconvolution methods. This study compares CTP-estimated ischemic core volume calculated by the Bayesian method and by the commonly used block-circulant singular value deconvolution technique. Methods- Patients were included if they had (1) anterior circulation ischemic stroke, (2) baseline CTP, (3) successful recanalization defined by thrombolysis in cerebral infarction ≥IIb, and (4) minimum infarction volume of >5 mL on follow-up magnetic resonance imaging (MRI). CTP data were processed with circulant singular value deconvolution and Bayesian methods. Two established CTP methods for estimation of ischemic core volume were applied: cerebral blood flow (CBF) method (relative CBF, <30% within the region of delay >2 seconds) and cerebral blood volume method (<2 mL per 100 g within the region of relative mean transit time >145%). Final infarct volume was determined on MRI (fluid-attenuated inversion recovery images). CTP and MRI-derived ischemic core volumes were compared by univariate and Bland-Altman analysis. Results- Among 35 patients included, the mean/median (mL) difference for CTP-estimated ischemic core volume against MRI was -4/-7 for Bayesian CBF ( P=0.770), 20/12 for Bayesian cerebral blood volume ( P=0.041), 21/10 for circulant singular value deconvolution CBF ( P=0.006), and 35/18 for circulant singular value deconvolution cerebral blood volume ( P<0.001). Among all methods, Bayesian CBF provided the narrowest limits of agreement (-28 to 19 mL) in comparison with MRI. Conclusions- Despite existing variabilities between CTP postprocessing methods, Bayesian postprocessing increases accuracy and limits variability in CTP estimation of ischemic core.
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Teorema de Bayes , Isquemia Encefálica/diagnóstico por imagen , Imagen por Resonancia Magnética , Accidente Cerebrovascular/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/complicaciones , Volumen Sanguíneo Cerebral/fisiología , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Imagen de Perfusión/métodos , Accidente Cerebrovascular/etiología , Tomografía Computarizada por Rayos X/métodosRESUMEN
The activity of a self-sufficient cytochrome P450 enzyme, CYP505D6, from the lignin-degrading basidiomycete Phanerochaete chrysosporium was characterized. Recombinant CYP505D6 was produced in Escherichia coli and purified. In the presence of NADPH, CYP505D6 used a series of saturated fatty alcohols with C9-18 carbon chain lengths as the substrates. Hydroxylation occurred at the ω-1 to ω-6 positions of such substrates with C9-15 carbon chain lengths, except for 1-dodecanol, which was hydroxylated at the ω-1 to ω-7 positions. Fatty acids were also substrates of CYP505D6. Based on the sequence alignment, the corresponding amino acid of Tyr51, which is located at the entrance to the active-site pocket in CYP102A1, was Val51 in CYP505D6. To understand the diverse hydroxylation mechanism, wild-type CYP505D6 and its V51Y variant and wild-type CYP102A1 and its Y51V variant were generated, and the products of their reaction with dodecanoic acid were analyzed. Compared with wild-type CYP505D6, its V51Y variant generated few products hydroxylated at the ω-4 to ω-6 positions. The products generated by wild-type CYP102A1 were hydroxylated at the ω-1 to ω-4 positions, whereas its Y51V variant generated ω-1 to ω-7 hydroxydodecanoic acids. These observations indicated that Val51 plays an important role in determining the regiospecificity of fatty acid hydroxylation, at least that at the ω-4 to ω-6 positions. Aromatic compounds, such as naphthalene and 1-naphthol, were also hydroxylated by CYP505D6. These findings highlight a unique broad substrate spectrum of CYP505D6, rendering it an attractive candidate enzyme for the biotechnological industry.IMPORTANCEPhanerochaete chrysosporium is a white-rot fungus whose metabolism of lignin, aromatic pollutants, and lipids has been most extensively studied. This fungus harbors 154 cytochrome P450-encoding genes in the genome. As evidenced in this study, P. chrysosporium CYP505D6, a fused protein of P450 and its reductase, hydroxylates fatty alcohols (C9-15) and fatty acids (C9-15) at the ω-1 to ω-7 or ω-1 to ω-6 positions, respectively. Naphthalene and 1-naphthol were also hydroxylated, indicating that the substrate specificity of CYP505D6 is broader than those of the known fused proteins CYP102A1 and CYP505A1. The substrate versatility of CYP505D6 makes this enzyme an attractive candidate for biotechnological applications.
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Sistema Enzimático del Citocromo P-450/química , Proteínas Fúngicas/química , Phanerochaete/enzimología , Secuencia de Aminoácidos , Dominio Catalítico , Clonación Molecular , Sistema Enzimático del Citocromo P-450/genética , Sistema Enzimático del Citocromo P-450/metabolismo , Escherichia coli/genética , Escherichia coli/metabolismo , Ácidos Grasos/química , Ácidos Grasos/metabolismo , Alcoholes Grasos/química , Alcoholes Grasos/metabolismo , Proteínas Fúngicas/genética , Proteínas Fúngicas/metabolismo , Hidroxilación , Lignina/química , Lignina/metabolismo , NADP/metabolismo , Oxidación-Reducción , Phanerochaete/química , Phanerochaete/genética , Proteínas Recombinantes/química , Proteínas Recombinantes/genética , Proteínas Recombinantes/metabolismo , Alineación de Secuencia , Especificidad por SustratoRESUMEN
Plasmablastic lymphoma (PBL) is a rare and aggressive subtype of B-cell lymphoma, which occurs typically in the oral cavity of human immunodeficiency virus (HIV)-positive patients. We report a case of a 44-year-old HIV-positive patient with a solitary polypoid mass of the left ureteropelvic junction, causing unilateral hydronephrosis and clinically mimicking urothelial carcinoma. A laparoscopic nephroureterectomy was performed, and pathological examinations revealed the mass as PBL. PBL can present in various forms, even as a polypoid mass of the upper urinary tract, and it should be considered in the differential diagnosis of any mass detected in the HIV-positive patients.
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Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma/diagnóstico , Neoplasias Endometriales/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias de la Tiroides/diagnóstico , Adenocarcinoma/secundario , Adenocarcinoma Folicular/patología , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Pulmón/patología , Neoplasias Pulmonares/secundario , Metástasis de la Neoplasia , Neoplasias de la Tiroides/patología , Útero/patología , Conductos Mesonéfricos/patologíaRESUMEN
BACKGROUND AND OBJECTIVES: Recent molecular analyses have shown that the driver genetic mutations of meningiomas were associated with the anatomic location. Among these, POLR2A mutation is common among lesions in the skull base, mainly in the cerebellopontine angle (CPA). The objective of this study was to investigate the efficacy of POLR2A mutation as a prognostic marker for CPA meningiomas. METHODS: We retrospectively analyzed the clinical data of 70 patients who had World Health Organization grade I CPA meningiomas. Somatic DNA was analyzed by Sanger sequencing and microsatellite array to examine for NF2 , AKT1 , KLF4 , SMO , and POLR2A mutations and 22q loss. Genetic and clinical parameters were analyzed to identify the factors related with tumor recurrence. RESULTS: We detected clearly the clinical features of the CPA cases with POLR2A mutation. Compared with cases without POLR2A mutation, cases with POLR2A mutation had more meningothelial type ( P = 6.9 × 10 -4 ), and higher rate of recurrence ( P = .04). We found that the poor prognostic factors associated with the recurrence of CPA meningiomas were POLR2A mutation ( P = .03, hazard ratio [HR] 9.38, 95% CI 1.26-70.0) and subtotal resection (STR) ( P = 5.1 × 10 -4 , HR 63.1, 95% CI 6.09-655.0). In addition, in the group that underwent STR, POLR2A mutation was a poor prognostic factor associated with tumor recurrence ( P = .03, HR 11.1, 95% CI 1.19-103.7). CONCLUSION: POLR2A mutation and STR were the poor prognostic markers associated with the recurrence of CPA meningioma. For CPA meningioma cases that underwent STR, only POLR2A mutation was a poor prognostic factor. Detecting POLR2A mutation may be a cost-effective, easy, and useful marker for prognostication.
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Ángulo Pontocerebeloso , Neoplasias Meníngeas , Meningioma , Mutación , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Biomarcadores de Tumor/genética , Neoplasias Cerebelosas/genética , Neoplasias Cerebelosas/cirugía , Ángulo Pontocerebeloso/cirugía , Ángulo Pontocerebeloso/patología , ADN Polimerasa II/genética , Factor 4 Similar a Kruppel , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/patología , Meningioma/genética , Meningioma/patología , Mutación/genética , Recurrencia Local de Neoplasia/genética , Pronóstico , Estudios RetrospectivosRESUMEN
Robust postoperative bypass development is a characteristic of moyamoya disease (MMD); however, genetic factors mediating this phenomenon remain incompletely understood. Therefore, we aimed to elucidate the relationship between postoperative donor artery development and genetic variants. We retrospectively enrolled 63 patients (79 hemispheres) who underwent combined revascularization surgery. Postoperative development of the superficial temporal artery (STA), middle meningeal artery, and deep temporal artery (DTA) was assessed using the caliber-change ratio determined from magnetic resonance angiography measurements. We analyzed RNF213 and 36 other moyamoya angiopathy-related genes by whole-exome sequencing and extracted rare or damaging variants. Thirty-five participants carried RNF213 p.Arg4810Lys (all heterozygotes), whereas 5 had RNF213 rare variants (RVs). p.Arg4810Lys was significantly associated with postoperative DTA development, while age at surgery, hypertension, and hyperlipidemia were inversely associated. Multiple regression analysis revealed that age and p.Arg4810Lys held statistical significance (P = 0.044, coefficient - 0.015, 95% confidence interval (CI) - 0.029 to 0.000 and P = 0.001, coefficient 0.670, 95% CI 0.269 to 1.072, respectively). Those with RNF213 RV without p.Arg4810Lys exhibited a significant trend toward poor DTA development (P = 0.001). Hypertension demonstrated a significant positive association with STA development, which remained significant even after multiple regression analysis (P = 0.001, coefficient 0.303, 95% CI 0.123 to 0.482). Following Bonferroni correction for multiple comparisons, targeted analyses of RNF213 and 36 moyamoya angiopathy-related genes showed a significant association of only RNF213 p.Arg4810Lys with favorable DTA development (P = 0.001). A comprehensive analysis of RNF213, considering both p.Arg4810Lys and RVs, may provide a clearer prediction of postoperative DTA development.
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BACKGROUND: Abnormal intracranial aneurysm (IA) wall motion has been associated with IA growth and rupture. Recently, a new image processing algorithm called amplified Flow (aFlow) has been used to successfully track IA wall motion by combining the amplification of cine and four-dimensional (4D) Flow MRI. We sought to apply aFlow to assess wall motion as a potential marker of IA growth in a paired-wise analysis of patients with growing versus stable aneurysms. METHODS: In this retrospective case-control study, 10 patients with growing IAs and a matched cohort of 10 patients with stable IAs who had baseline 4D Flow MRI were included. The aFlow was used to amplify and extract IA wall displacements from 4D Flow MRI. The associations of aFlow parameters with commonly used risk factors and morphometric features were assessed using paired-wise univariate and multivariate analyses. RESULTS: aFlow quantitative results showed significantly (P=0.035) higher wall motion displacement depicted by mean±SD 90th% values of 2.34±0.72 in growing IAs versus 1.39±0.58 in stable IAs with an area under the curve of 0.85. There was also significantly (P<0.05) higher variability of wall deformation across IA geometry in growing versus stable IAs depicted by the dispersion variables including 121-150% larger standard deviation ([Formula: see text]) and 128-161% wider interquartile range [Formula: see text]. CONCLUSIONS: aFlow-derived quantitative assessment of IA wall motion showed greater wall motion and higher variability of wall deformation in growing versus stable IAs.
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Objective: There are insufficient coherent reports on mechanical thrombectomy (MT) for occlusion of the second segment of the middle cerebral artery (M2 occlusion) in a real-world clinical setting. We evaluated the efficacy and safety of MT for M2 occlusions and compared the primary thrombectomy strategies (stent retriever, aspiration catheter, and combined technique) to analyze factors predicting good functional outcomes. Methods: We evaluated background factors, preprocedural factors, procedural factors, and procedural time for patients who underwent MT for M2 occlusions from our retrospective cohort. According to the modified Rankin Scale (mRS) score three months after MT, patients were divided into good (mRS ≤2) and poor (mRS ≥3) prognosis groups. Results: A total of 29 patients (median age, 78 years; 11 [37.9%] females) were included in the study. In this cohort, rates of successful reperfusion, thrombolysis in cerebral infarction (TICI) 3, postprocedural hemorrhage (PPH), and symptomatic PPH were 82.8, 34.5, 31.0, and 0%, respectively. Good prognoses were achieved in 13 (45%) cases. A prognostic factor of MT for M2 occlusions is TICI 3 from multivariate analysis (OR, 11.7; 95% CI, 1.003-136; p = 0.0497). There was no statistically significant difference in the functional outcome three months after MT based on the choice of the primary thrombectomy strategy. Conclusion: MT for M2 occlusions is a reliable and relatively safe procedure. The presence of TICI 3 was a prognostic factor in this cohort. Future studies are warranted to investigate the optimal thrombectomy strategy for medium vessel occlusion.
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Background: Glioblastoma is a malignant tumor, and its prognosis is as poor as 1.5 to 2 years. Most cases recur within one year even under the standard treatment. The majority of recurrences are local, and in rare cases, metastasize mostly within the centra nervous system. Extradural metastasis of glioma is exceedingly rare. Here, we present a case of vertebral metastasis of glioblastoma. Case presentation: We present a 21-year-old man post total resection of the right parietal glioblastoma, diagnosed with lumbar metastasis. He originally presented with impaired consciousness and left hemiplegia and underwent gross total resection of the tumor. Given the diagnosis of glioblastoma, he was treated with radiotherapy combined with concurrent and adjuvant temozolomide. Six months after tumor resection, the patient presented with severe back pain, and was diagnosed as metastatic glioblastoma on the first lumbar vertebrae. Posterior decompression with fixation and postoperative radiotherapy were conducted. He went on to receive temozolomide and bevacizumab. However, at 3 months after the diagnosis of lumbar metastasis, further disease progression was noted, and his care was transitioned to best supportive care. Comparison on copy number status between primary and metastatic lesions on methylation array analysis revealed more enhanced chromosomal instability including 7p loss, 7q gain and 8 gain in the metastatic lesion. Conclusion: Based upon the literature review and our case, younger age of initial presentation, multiple surgical interventions, and long overall survival seem to be the risk factors of vertebral metastasis. As the prognosis of glioblastoma improves over time, its vertebral metastasis is seemingly more common. Therefore, extradural metastasis should be kept in mind in the treatment of glioblastoma. Further, detailed genomic analysis on multiple paired specimens is mandated to elucidate the molecular mechanisms of vertebral metastasis.
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OBJECTIVE: With the increasing incidence of malignancies, the importance of cancer-associated stroke is emphasized. Although moyamoya disease is a leading cause of stroke, no reports have documented cancer-associated stroke in patients with this condition. We aimed to investigate cerebrovascular events during malignancy treatments in patients with moyamoya disease. METHODS: A total of 405 patients with moyamoya disease who visited our hospital between January 2000 and March 2022 were retrospectively examined. We evaluated the management of moyamoya disease, presence of the ring finger protein 213 p.Arg4810Lys variant, treatments for malignant tumors, presence of cerebrovascular events during treatment, and follow-up periods and outcomes. RESULTS: Among the 405 patients, 17 patients with moyamoya disease (4.2%) were diagnosed with malignancies. Among patients aged 60 years and over, 7 out of 67 (10.4%) had malignancies. Of the 17 patients, 11 (64.7%) were symptomatic, and 7 (41.2%) had revascularization surgery. 9 patients were treated with oral antiplatelet drugs. There was no significant difference between the groups with and without malignancy regarding the presence of the ring finger protein 213 p.Arg4810Lys variant (80.0% vs. 62.7%, P = 0.33). All patients underwent surgical treatment, and 7 (41.2%) received chemotherapy. One death due to tumor progression was reported. No cerebrovascular event was observed during malignancy treatments and follow-up periods, which had a mean duration of 6 years. CONCLUSIONS: In our cohort, malignancy treatments in patients with moyamoya disease were safely conducted without cerebrovascular events. However, it is advisable to avoid hypotension, dehydration, hyperventilation, and long-term discontinuation of antiplatelet drugs during the treatment of malignant tumors.