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AIM: To investigate the status of immune checkpoint molecules (CTLA-4 and TIM-3) in meningiomas and thus contribute to the development of new personalized treatment strategies. MATERIAL AND METHODS: We utilized 402 cases of meningioma for this study. New blocks were prepared using the tissue microarray method, and sections obtained from these blocks were immunohistochemically stained with CTLA-4 and TIM-3 antibodies. Subsequently, statistical analysis were performed. RESULTS: Our findings revealed that CTLA-4 expression were observed in 25.1% of meningiomas. CTLA-4 expression and the number of expressing lymphocytes were found to be significantly higher in high-grade tumors and in those with brain invasion. Meningiomas with staining of immune cells with TIM-3 are 3.5%, and the tumor grade was correlated with the number of immune cells expressing TIM-3. CONCLUSION: Immune checkpoint molecules (CTLA-4 and TIM-3) with varying levels of expression can serve as prognostic and predictive biomarkers, as well as important targets for therapy. Drugs developed for CTLA-4 and TIM-3 molecules may prove to be more effective in treating meningiomas with high-grade, brain-invading, spontaneous necrosis, and macronucleolus.
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Antígeno CTLA-4 , Receptor 2 Celular del Virus de la Hepatitis A , Inmunohistoquímica , Neoplasias Meníngeas , Meningioma , Humanos , Meningioma/inmunología , Meningioma/patología , Meningioma/metabolismo , Masculino , Neoplasias Meníngeas/inmunología , Neoplasias Meníngeas/patología , Neoplasias Meníngeas/metabolismo , Femenino , Persona de Mediana Edad , Antígeno CTLA-4/metabolismo , Antígeno CTLA-4/inmunología , Receptor 2 Celular del Virus de la Hepatitis A/metabolismo , Anciano , Adulto , Biomarcadores de Tumor/metabolismo , Proteínas de Punto de Control Inmunitario/metabolismo , Anciano de 80 o más Años , Adulto Joven , AdolescenteRESUMEN
BACKGROUND: Intrathyroidal ectopic thymus (IET), a benign lesion due to aberrant thymic migration during embryogenesis, is often discovered incidentally. We aimed to present the ultrasound (US) features, diagnostic methods, and follow-up of IET in children and adolescents. METHODS: We searched our database of patients with a nodular thyroid lesion detected by US, between January 2007 and December 2019. In 30/255 (11.7%), IET was diagnosed. RESULTS: The study included 30 patients (20 males/10 females), mean age 5 years (0.1-12.2, median 5.6) with 34 lesions diagnosed by US as `incidentalomas.` None of the patients had palpable nodules. On US, IET appeared as a hypoechoic lesion, with multiple punctuate internal echoes. 29/34 of lesions had well-defined margins. The most common location of IET was in the middle part (27/34) of the left lobe (19/34). The mean longest diameter at diagnosis was 6.4 mm (2.5-21, median 4.5). Sonographic follow-up was available in 25 patients with 27 lesions. The mean time of observation was 2.7 years (0.3-7.5, median 2.1). While 13/27 cases showed decreased size or regression during follow-up, the other 13 increased in size, and there was no change in size in one. Pubertal progression was associated with both increment and decrease in size of IET. Fine needle aspiration (FNA) was performed in 5 patients and surgery in one. CONCLUSIONS: IET should be considered in the differential diagnosis of pediatric thyroid nodules as a cause of FNA and/or surgery. Regular US monitoring can be used safely in the follow-up of this lesion. We present one of the largest series in the literature with long-term follow-up and description of patients` pubertal status. IET prevalence was 11.7% among children and adolescents with a nodular thyroid lesion, higher than that stated in the literature.
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Enfermedades Linfáticas , Neoplasias de la Tiroides , Nódulo Tiroideo , Adolescente , Masculino , Femenino , Humanos , Niño , Preescolar , Nódulo Tiroideo/diagnóstico por imagen , Diagnóstico Diferencial , Timo/diagnóstico por imagen , Ultrasonografía/métodos , Estudios RetrospectivosRESUMEN
Vitamin B12 begins to accumulate in infants within the first six months while mothers often remain asymptomatic and infantile vitamin B12 deficiency may not be noticed until the onset of neurological effects. In infants with Cbl deficiency, long-term exposure to elevated methylmalonic acid and homocysteine (MMA-HC) may have toxic effects on the central nervous system. The aim of this study was to evaluate cranial magnetic resonance (MRI) findings of 23 hypotonic infants that were followed up with a diagnosis of nutritional Cbl deficiency and combined MMA-HC. Of the 78 infants that presented with hypotonicity, 23 (29.4%) infants were detected with vitamin B12 deficiency. Elevated MMA-HC levels were detected in all patients (100%). Cranial MRI showed cortical atrophy in 6 (26.0%)-large sylvian fissures in 7 (30.4%)-ventricular dilatation in 5 (21.7%)-corpuscallosal thinning in 6 (26.0%)-delayed myelination in 3 (13%), and normal in 8 (34.7%) infants.Infants detected with corpus callosal thinning and cortical atrophy on MRI. Vitamin B12 deficiency is a treatable condition, it should be suspected in infants presenting with hypotonicity. Neuroradiological findings should be considered in the diagnosis of such patients. Infantile nutritional vitamin B12 deficiency, which can be a source of persistent neurological deficits during the long term, should be treated to allow the patient to allow healthy neuro-development for infants. Maternal and fetal vitamin B12 levels should be assessed during the third trimester of pregnancy to prevent long-term exposure to infantile vitamin B12 deficiency.
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Homocistinuria , Deficiencia de Vitamina B 12 , Errores Innatos del Metabolismo de los Aminoácidos , Femenino , Homocistinuria/diagnóstico , Humanos , Lactante , Imagen por Resonancia Magnética , Embarazo , Vitamina B 12 , Deficiencia de Vitamina B 12/diagnósticoRESUMEN
Background/aim: To reveal the contribution of magnetic resonance imaging (MRI) to ultrasound (US) in prenatal diagnosis of fetal craniospinal anomalies by retrospectively comparing the prenatal and postnatal findings. Materials and methods: After institutional review board approval, between January 2010 and May 2020, 301 pregnant women, which had a gestational age between 1937 weeks (mean 26.5 ± 6.1 weeks), diagnosed with cranial and spinal anomalies on fetal US and later on imaged with MRI were evaluated, and in 179 of those cases prenatal imaging findings were compared with postnatal findings. Results: A total of 191 fetal craniospinal anomalies were detected in 179 pregnant women. MRI and US diagnosis were completely correct in 145 (75.9%) and 112 (58.6%), respectively. Diagnostic performance of MRI was significantly higher than that of the US (p < 0.05). Both prenatal MRI and US findings were concordant with postnatal diagnosis in 53% of the cases. In 28.7% cases, prenatal MRI contributed to US by either changing the wrong US diagnosis (8.9%), demonstration of additional findings (14%), or confirming the suspicious US diagnosis (5.8%). Conclusion: Due to its high resolution and multiplanar imaging capability, fetal MRI contributes significantly to US in the correct prenatal diagnosis of craniospinal anomalies. This contribution especially is significant in neural tube defects, cortical malformations, and ischemic-hemorrhagic lesions.
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Imagen por Resonancia Magnética , Ultrasonografía Prenatal , Femenino , Feto/diagnóstico por imagen , Humanos , Lactante , Embarazo , Diagnóstico Prenatal , Estudios RetrospectivosRESUMEN
Background/aim: To evaluate diagnostic efficacy of the apparent diffusion coefficient measurements from tumor (ADCt) and tumor circumference hyperintensities (ADCtch) in different types of malignant intra-axial brain tumors. Materials and methods: Between April 2013 and June 2017, 125 patients (52 females (41.6%) and 73 males (58.4%); mean age: 53 years, age range: 14-81 years), who underwent diffusion-weighted imaging (DWI) with intracranial mass, were retrospectively evaluated. The mean ADCt and ADCtch values and ratios were measured. Results: Of the 125 patients, 22 (17.6%) had a low-grade glioma (LGG), 55 (44%) had a high-grade glioma (HGG), 32 (25.6%) had metastasis, and 16 (12.8%) had lymphoma diagnosis. There was a statistically significant difference in LGG and HGG in terms of mean ADCt and mean ADCtch values, and ratios. ADCtch values and ratios showed a statistically significant difference in the differentiation of HGG and metastasis and in the differentiation of HGG and lymphoma. According to ROC curve analysis, a cut-off value of 1.49 × 10−3 mm2/s for the mean ADCtch value generated the best combination of 70% sensitivity and 71% specificity for differentiation of HGGs and metastasis. The mean ADCtch value had the highest statistical predictive value for differentiation of HGGs and lymphoma with a sensitivity of 78% and a specificity of 76% for the optimal cut-off value of 0.82 × 10Ë3 mm2/s. Conclusion: The mean ADCt ratio allowed reliable differentiation of LGG and high grade brain tumors, including HGGs, metastases, and lymphoma. The mean ADCtch might be a better imaging biomarker in the differentiation of HHG from metastasis and lymphoma.
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Neoplasias Encefálicas , Encéfalo/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética/métodos , Glioma , Linfoma , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patología , Diagnóstico Diferencial , Femenino , Glioma/diagnóstico , Glioma/patología , Humanos , Linfoma/diagnóstico , Linfoma/patología , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Estadificación de Neoplasias , Curva ROC , Reproducibilidad de los Resultados , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Background/aim: The aim of this study was to determine fetal nuchal translucency (NT) thickness nomogram values in first trimester in a Turkish population and compare them with previously reported European and Asian nomogram data. Material and methods: Ultrasonographic measurements of crown-rump length (CRL) and NT thicknesses were obtained from 11 to 14 weeks of gestation in a normal Turkish population. Pregnant women with singleton pregnancy and fetal CRL between 45 and 84 mm were included in the study. The mean 1st, 3rd, 5th, 50th, 90th, 95th, 97th, and 99th percentiles and fixed cut off values of ≥ 2.5 mm, ≥ 3 mm, ≥ 3.5 mm NT thicknesses for a CRL between 45 and 84 mm were determined. Results: A total of 1605 healthy fetuses were enrolled in the study. The sonographic measurements were performed on 1541 (%94) fetuses transabdominally and on 99 cases (%4) by the transvaginal route. The mean NT thickness for CRL between 45 and 84 mm was 1.57 ± 074 mm, and the mean 95th, 97th, and 99th percentiles of these values were 2.82 mm, 3.17, and 4.75 mm, respectively. The incidence of NT thicknesses at fixed points of ≥ 2.5 mm, ≥ 3 mm, and ≥ 3.5 mm in normal fetuses were 6.7%, 4.1%, and 2.1%, respectively. Conclusion: The present study demonstrated the nomogram data of fetal NT thickness in a Turkish population. We think that this report will be useful for further research related to NT thickness values on the prenatal diagnosis for the first trimester chromosomal abnormalities in Turkish populations.
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Aberraciones Cromosómicas , Edad Gestacional , Medida de Translucencia Nucal , Primer Trimestre del Embarazo , Diagnóstico Prenatal , Adulto , Largo Cráneo-Cadera , Femenino , Feto , Humanos , Embarazo , Atención Prenatal , Valores de Referencia , Turquía , Ultrasonografía Prenatal/métodosRESUMEN
BACKGROUND: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations; however, it is often associated with gastrointestinal surgical procedures, recurrent vomiting, chronic diarrhea, cancer and chemotherapy treatment, systemic diseases, drugs, magnesium deficiency, and malnutrition in children. Although these predisposing factors are considered to be uncommon in children, they are actually highly frequent and can be fatal if not treated promptly. CASE: In this report, we present a patient who developed diplopia during total parenteral nutrition following surgical resection and was diagnosed with WE. The findings of the patient's cranial magnetic resonance imaging (MRI) findings were consistent with those of WE and the ocular findings of the patient resolved completely after thiamine treatment. CONCLUSION: Although WE is rare in children it can be prevented by early diagnosis and treatment and oculomotor findings such as diplopia can be a warning sign.
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Enfermedad de Hirschsprung , Deficiencia de Tiamina , Encefalopatía de Wernicke , Adulto , Niño , Diplopía , Humanos , Imagen por Resonancia Magnética , Tiamina , Encefalopatía de Wernicke/diagnóstico , Encefalopatía de Wernicke/etiologíaRESUMEN
OBJECTIVES: The purposes of this study were to determine the benefit of the bronchiolitis ultrasound score (BUS) in predicting hospital admission in children with acute bronchiolitis and to characterize lung sonography findings. METHODS: This prospective observational study was performed in an academic pediatric emergency department. Children younger than 24 months presenting to the emergency department, diagnosed with acute bronchiolitis by 2 independent pediatricians were included in the study. Lung ultrasound was performed by a single sonographer, who was blinded to as much clinical information as possible. In addition, the treating physicians were blinded to the lung ultrasound findings. Logistic regression analysis models were used to identify admission predictors. Receiver operating characteristic analysis was used to evaluate the predictive value for effects of the BUS and the modified Bronchiolitis Severity Score on admission. RESULTS: The median age of the 76 patients diagnosed with acute bronchiolitis was 6 months (interquartile range, 3.6-10 months). Forty-two (55.3%) of the 76 patients enrolled were admitted. Lung ultrasound was compatible with acute bronchiolitis in 74 patients (97%). A significant correlation was determined between modified Bronchiolitis Severity Score and BUS in children with acute bronchiolitis (r = 0.698, P < 0.001). The most effective parameter in determining admission on logistic regression analysis, independently of other variables, was BUS (P = 0.044; adjusted odds ratio, 1.859; 95% confidence interval, 1.016-3.404). Bronchiolitis ultrasound score values of 3 or greater exhibited 73.81% sensitivity and 73.53% specificity, whereas BUS values of 4 or greater exhibited 50% sensitivity and 91.18% specificity. CONCLUSIONS: Point-of-care lung ultrasound can accurately detect pulmonary anomalies in children with acute bronchiolitis, has a close correlation with clinical findings, and is a useful tool in predicting hospital admission.
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Bronquiolitis/diagnóstico , Hospitalización/estadística & datos numéricos , Pulmón/diagnóstico por imagen , Servicio de Urgencia en Hospital , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Sistemas de Atención de Punto , Estudios Prospectivos , Curva ROC , Índice de Severidad de la Enfermedad , Turquía , UltrasonografíaRESUMEN
Background and objectives: Serum 17α- hydroxyprogesterone (17OHP) and bilateral adrenal sizes are pivotal for clinical practice in both diagnosis and treatment of congenital adrenal disorders during the first month of life. Our aims were to determine the reference ranges for serum 17OHP and bilateral adrenal gland sizes according to sex and age groups in healthy term newborns.Materials and methods: A total of 156 healthy newborns, aged 4-7 days (Group 1) or 26-30 days old (Group 2) were included in the study. Serum 17OHP concentration was measured in the morning by radioimmunoassay. The right and left adrenal glands' width, length, and depth were measured with ultrasonography by the same radiologist and the volumes were calculated.Results: The clinical characteristics and serum 17OHP concentrations were similar in male and female newborns. Percentiles for serum 17OHP concentration and the volume of adrenal glands according to age groups and sexes were obtained. Mean 17OHP concentration was 4.67 ± 2.6 ng/ml and 4.49 ± 2.7 ng/ml at the first and fourth week of life, respectively (p > .05). There was a significant decrease in adrenal sizes during the fourth week of life. There was no significant correlation between serum 17OHP concentration and adrenal gland sizes.Conclusions: We have determined reference intervals for serum 17OHP concentration and bilateral adrenal gland sizes for healthy newborns. Although serum concentrations of 17OHP did not change significantly through the first month of life, our reference intervals for serum 17OHP concentration and adrenal sizes may improve clinical approach toward newborns who are suspected of adrenal disorder. We conclude that our reference intervals can guide for congenital adrenal screening regarding serum 17OHP concentration besides diagnosis of adrenal hypoplasia or hyperplasia with ultrasonographic adrenal gland sizes.
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Background/aim: This study aimed to evaluate the diagnostic efficacy of vertebral Hounsfield unit (HU) values on routine contrast- enhanced abdominal computed tomography (CT) scans for the assessment of osteoporosis using dual-energy X-ray absorptiometry (DXA) T-scores as a reference standard. Materials and methods: A total of 111 consecutive patients who underwent contrast-enhanced abdominal CT examination for any indication and DXA within a 6-month period were retrospectively analyzed. The CT attenuation values of trabecular bone in HUs were measured in axial and sagittal planes from lumbar vertebrae 14 (L1L4). The correlation between the DXA T-scores and HU values measured on the CT scans was evaluated by Pearson's correlation test. Areas under the curves (AUCs) were calculated by receiver operating characteristic analysis for diagnostic proficiency, and threshold values were determined. Paired t-test and BlandAltman plot test were used to evaluate the correlation between axial and sagittal HU values. Results: There was a strong correlation between the DXA T-scores and HU values of all the lumbar vertebrae (P < 0.001). The highest correlation was for the L3 vertebra; L3 was thus chosen for additional analyses. The mean axial and sagittal L3 attenuations were 133.7 HU and 131.9 HU, respectively. The axial measurements were not significantly different from the sagittal measurements, with a mean difference of 1.8 HU (P > 0.05). The L3 axial CT attenuation threshold for 90% sensitivity was 170 HU and that for 90% specificity was 102 HU for distinguishing osteoporosis from osteopenia and normal bone mineral density (BMD). To distinguish the low BMD group from the normal group, the L3 axial CT attenuation threshold for approximately 90% sensitivity was 102 HU and for 90% specificity was 165 HU. Conclusion: The HUs derived from routine contrast-enhanced abdominal CT scans can be used for the evaluation of osteoporosis, without additional radiation exposure and cost.
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Abdomen/diagnóstico por imagen , Osteoporosis/diagnóstico por imagen , Intensificación de Imagen Radiográfica , Tomografía Computarizada por Rayos X/métodos , Absorciometría de Fotón , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Densidad Ósea , Medios de Contraste , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
OBJECTIVE: This study aimed to evaluate the diagnostic efficacy of T2 dark spot, T2 dark rim, and T2 shading signs on magnetic resonance imaging in the differentiation of endometriomas from hemorrhagic cysts. METHODS: Seventy-two hemorrhagic lesions were included in this retrospective study. The presence of T2 dark spot, T2 dark rim, and T2 shading signs in the lesions and the presence of complete or incomplete rim in lesions exhibiting T2 dark rim signs were evaluated. RESULTS: Of 72 lesions, 50 were diagnosed with endometrioma and 22 were diagnosed with hemorrhagic cyst. Twenty-six of 50 endometriomas and none of the hemorrhagic cysts showed T2 dark spot sign. T2 shading was observed in 90% of endometriomas and 18% of hemorrhagic cysts. Incomplete T2 dark rim was detected in 67% of endometriomas and 21% of hemorrhagic cysts. CONCLUSIONS: T2 dark spot and T2 dark rim signs could be useful for distinguishing endometriomas from hemorrhagic cysts.
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Endometriosis/diagnóstico por imagen , Interpretación de Imagen Asistida por Computador/métodos , Imagen por Resonancia Magnética/métodos , Quistes Ováricos/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Adolescente , Adulto , Diagnóstico Diferencial , Femenino , Hemorragia/diagnóstico por imagen , Humanos , Persona de Mediana Edad , Adulto JovenRESUMEN
Background/aim: This study aimed to evaluate the diagnostic value of vascular indices obtained using 3D power Doppler ultrasound (3D PDUS) in differentiation of benign and malignant thyroid nodules. Materials and methods: Sixty-seven patients (56 female, 11 male, mean age 44.6) with 81 thyroid nodules exhibiting mixed (peripheral and central) vascularization patterns, with the largest diameter between 10 and 30 mm, were prospectively evaluated using 3D PDUS. Nodule volume, vascularization index (VI), flow index (FI), and vascularization flow index (VFI) were calculated using the Virtual Organ Computer-aided Analysis (VOCAL) software, and these indices were then compared with regard to the cytohistopathology-based diagnosis. The optimum cutoff values for the differentiation of benign and malignant nodules were identified, and diagnostic efficacy was calculated using receiver operating characteristic (ROC) analysis. Results: Fifty-six of the 81 nodules included in this study were diagnosed as benign and 25 as malignant. Vascular indices in malignant nodules were significantly higher than those in benign nodules (P < 0.05). In benign nodules, the mean VI was 11.61 ± 6.88, mean FI was 39.75 ± 3.93, and mean VFI was 4.82 ± 2.94, compared to 18.64 ± 12.81, 41.82 ± 4.43, and 8.17 ± 6.37, respectively, in malignant nodules. The area under the curves (AUCs) was calculated as 0.68, 0.61, and 0.67 for VI, FI, and VFI, respectively. At optimal cutoff values of 10.2 for VI, 40.8 for FI, and 5.5 for VFI, the sensitivity and specificity were 72%/55.4%, 68%/57.1%, and 68%/67.9%, respectively. Conclusion: 3D PDUS can be useful in the characterization of thyroid nodules.
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Interpretación de Imagen Asistida por Computador/métodos , Imagenología Tridimensional/métodos , Glándula Tiroides/diagnóstico por imagen , Nódulo Tiroideo/diagnóstico por imagen , Ultrasonografía Doppler/métodos , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Glándula Tiroides/irrigación sanguínea , Nódulo Tiroideo/irrigación sanguíneaRESUMEN
Ectopic adrenocortical tissue may be present in many anatomical localizations. Hyperplasia, adenoma or carcinoma can occasionally develop from the ectopic adrenal tissue. Therefore, it should be surgically excised when it is detected. Adrenocortical tumors are the most common type of adrenal neoplasms. Ectopic adrenocortical adenomas are rarely seen. A total of 34 cases of ectopic adrenocortical adenoma (14 of which are oncocytomas) have been reported at different localizations in English literature. Most of them are non-functional. Differential diagnosis is required with other benign or malign oncocytic neoplasms. We report a 56-year-old male patient, who presented with a retroperitoneal mass. Our case is the seventh case of ectopic retroperitoneal adrenal adenoma with oncocytic cells.
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Adenoma Oxifílico/diagnóstico , Adenoma Corticosuprarrenal/diagnóstico , Coristoma/patología , Adenoma Oxifílico/cirugía , Adenoma Corticosuprarrenal/cirugía , Ciego/diagnóstico por imagen , Ciego/patología , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neoplasias Glandulares y Epiteliales/diagnóstico , Neoplasias Glandulares y Epiteliales/cirugíaRESUMEN
Meningioma is a neoplasm derived from meningothelial cells. Grade1 meningiomas consist of 9 different subtypes. One of the rare subtypes is metaplastic meningioma. Metaplastic meningioma could be defined as "xanthomatous meningioma" in the presence of prevalent xanthomatous changes. A 32-year-old male patient presented to the outpatient clinic with complaints of vertigo and tinnitus. Magnetic resonance imaging revealed a large mass lesion of 7.4 cm in the right frontal region with an extra-axial localization. Resection material demonstrated a neoplasm composed of classical meningothelial meningioma areas accompanied with areas of xanthomatous changes, containing cells with clear, vacuolated cytoplasm. Epithelial membrane antigen (EMA), vimentin, and progesterone expression were evident in both xanthomatous and meningothelial meningioma areas. Additionally, CD68 positivity was also observed in xanthomatous areas. EMA positivity is a neoplastic marker for xanthomatous cells and is a critical marker to differentiate these cells from macrophages, which is crucial for pathologists in the differential diagnosis. Xanthomatous meningiomas are quite rare and our case presentation is the 7 < sup > th < /sup > one in the current literature.
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Neoplasias Meníngeas/patología , Meningioma/patología , Xantomatosis/patología , Adulto , Humanos , Imagen por Resonancia Magnética , Masculino , Neoplasias Meníngeas/cirugía , Meningioma/cirugíaRESUMEN
BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature. METHODS: Six patients referred from different centers with similar clinical findings were diagnosed with BTBGD with newly identified mutations in the SLC19A3 gene. Two novel mutations in the SLC19A3 gene were identified in two patients at whole exome sequencing analysis. The clinical characteristics, responses to treatment, and electroencephalography (EEG) and MRI findings of these patients were examined. The other four patients presented with similar clinical and cranial MRI findings. These patients were therefore started on high-dose biotin and thiamine therapy, and mutation analysis concerning the SLC19A3 gene was performed. Responses to treatment, clinical courses, EEG findings and follow-up MRI were recorded for all these patients. RESULTS: Age at onset of symptoms ranged from 1 to 3 months. The first symptoms were generally persistent crying and restlessness. Seizures occurred in five of the six patients. Cranial magnetic resonance imaging revealed involvement in the basal ganglia, brain stem, and the parietal and frontal regions in general. The first two patients were siblings, and both exhibited a novel mutation of the SLC19A3 gene. The third and fourth patients were also siblings and also exhibited a similar novel mutation of the SLC19A3 gene. The fifth and sixth patients were not related, and a newly identified mutation was detected in both these subjects. Three novel mutations were thus detected in six patients. CONCLUSION: BTBGD is a progressive disease that can lead to severe disability and death. Early diagnosis of treatable diseases such as BTBGD is important in order to prevent long-term complications and disability.
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Enfermedades de los Ganglios Basales/diagnóstico por imagen , Enfermedades de los Ganglios Basales/genética , Encéfalo/diagnóstico por imagen , Diagnóstico Precoz , Proteínas de Transporte de Membrana/genética , Adulto , Edad de Inicio , Encéfalo/patología , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Hermanos , Adulto JovenRESUMEN
BACKGROUND: Diffusion-weighted imaging (DWI) is a noncontrast-enhanced MRI technique. There are new promising studies on the use of DWI as a part of the enhanced or unenhanced abbreviated breast MRI protocols. PURPOSE: To evaluate the ability of breast DWI in the assessment of mass morphology and determine the contribution of this morphologic evaluation in their characterization. STUDY TYPE: Retrospective. POPULATION: In all, 213 consecutive women were breast MR imaged and had a later confirmed diagnosis. FIELD STRENGTH/SEQUENCE: Breast dynamic contrast-enhanced-MRI (DCE-MRI) and DWI at 1.5T. ASSESSMENT: After Institutional Review Board approval, two radiologists first independently, and later in consensus, evaluated the visibility and morphology of the 143 malignant, 70 benign masses on DWI and DCE-MRI in separate sessions, blindly. Shape, margin, and internal pattern of the masses were evaluated according to BI-RADS lexicon. Apparent diffusion coefficient (ADC) and tumor size were measured by one radiologist. STATISTICAL TESTS: Consistency between imaging methods and readers was evaluated with Cohen's kappa statistics. Multivariate analysis was applied to find the best predictors of malignancy. RESULTS: Tumor visibility on DWI was high to moderate in at least 88% of cases. Consistency between DWI and DCE-MRI was substantial (kappa ≥0.757) for shape and margin and moderate (kappa = 0.505) for internal pattern. Interobserver agreement was substantial to moderate for all morphologic parameters (kappa ≥0.596). Morphology evaluated on DWI provided 83-84% accuracy in discriminating malignant from benign masses. ADC alone provided 90-91% accuracy. Both morphologic parameters and ADC were significantly associated with malignancy on multivariate analysis and provided 91-93% accuracy. DATA CONCLUSION: DWI might be used not only for ADC evaluation but also for the morphological evaluation of breast masses to characterize them. LEVEL OF EVIDENCE: 3 Technical Efficacy: Stage 2 J. Magn. Reson. Imaging 2018;48:1668-1677.
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Neoplasias de la Mama/diagnóstico por imagen , Mama/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Medios de Contraste , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Persona de Mediana Edad , Análisis Multivariante , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Adulto JovenRESUMEN
Recanalization and prognosis of cerebral venous sinus thrombosis (CVST) are generally considered to be good, and various factors have been reported to be associated with recanalization in previous studies. Fifty patients diagnosed with CVST between September 2007 and July 2016 were analyzed retrospectively. Modified Rankin scale (mRS) scores at six months and results of follow-up imaging of patients with at least six months follow-up were also reviewed for the assessment of long term outcome, recanalization rates and factors associated with recanalization. The mean age of the patients (39 female, 11 male) was 34.6±11.2years (17-69). Of the 50 patients enrolled, 31 (62%) had at least six months follow-up with available data and 26 (83.9%) of these had favorable outcomes (mRS 0-1) at six months. Complete recanalization was observed in 15 patients (48.4%), partial recanalization in 14 (45.2%) and no recanalization in 2 (6.5%). Univariate analysis revealed that complete recanalization rates were higher in female patients (p=0.013) and lower in patients with multiple thrombosis in more than one dural sinus (p=0.03). The prognosis and recanalization rates of CVST were good, and complete or partial recanalization of venous sinuses was not associated with clinical outcome.
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Anticoagulantes/uso terapéutico , Procedimientos Endovasculares/métodos , Trombosis de los Senos Intracraneales/terapia , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Trombosis de los Senos Intracraneales/diagnóstico , Resultado del Tratamiento , Adulto JovenRESUMEN
Pseudoaneurysms (PA) in the arterial supply of the breast are quite rare and mostly iatrogenic secondary to biopsies. Breast PAs after blunt trauma is even rarer. In this paper, a case of breast PAs secondary to blunt trauma and its percutaneous treatment using human thrombin injection and after N-butyl cyanoacrylate is presented.
Asunto(s)
Aneurisma Falso/diagnóstico , Mama/irrigación sanguínea , Complicaciones Cardiovasculares del Embarazo/diagnóstico , Ultrasonografía Prenatal , Accidentes de Tránsito , Adulto , Aneurisma Falso/diagnóstico por imagen , Aneurisma Falso/tratamiento farmacológico , Mama/lesiones , Diagnóstico Diferencial , Femenino , Hemostáticos/administración & dosificación , Humanos , Inyecciones Intralesiones , Embarazo , Complicaciones Cardiovasculares del Embarazo/diagnóstico por imagen , Complicaciones Cardiovasculares del Embarazo/tratamiento farmacológico , Trombina/administración & dosificación , Heridas no PenetrantesRESUMEN
PURPOSE: To investigate effectiveness of vascular indices obtained with 3D power Doppler ultrasound in the further characterization of breast masses and prevention of unnecessary biopsies. MATERIALS AND METHODS: Between April 2013 and March 2014, 109 patients (age range, 17-85 years; mean age, 47 years) with 117 radiologically or clinically suspicious breast masses were prospectively evaluated with 3DPDUS before biopsy. Mass volume (MV), vascularization index (VI), flow index (FI) and vascularization flow index (VFI) were calculated using Virtual Organ Computer-aided Analysis (VOCAL) software and they were correlated with the final diagnosis. Cutoff values of vascular indices were determinated and diagnostic efficacy was calculated with receiver operating curve (ROC) analysis. RESULTS: All vascular indices, age of patients and tumor volume were significantly lower in benign masses compared with malignant ones (p<0.001). AUCs were 0.872, 0.867 and 0.789 for VI, VFI and FI, respectively. The diagnostic efficacy of VI (for cutoff 1.1; 83% sensitivity, 82% specificity and 82% accuracy) and VFI (for cutoff 0.4; 80% sensitivity, 83% specificity and 80% accuracy) were significantly higher than FI (for cutoff 33,9; 73% sensitivity, 69% specificity and 71% accuracy). It was found that with the use of vascular indices of 3DPDUS in the further characterization of suspicious breast masses between 24% to 37% of unnecessary biopsies could have been avoided. CONCLUSION: The vascular indices obtained with 3DPDUS seem reliable in the further characterization of suspicious breast masses and might be used to decrease unnecessary biopsies.