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OBJECTIVE: To describe the MR features enabling prenatal diagnosis of pontocerebellar hypoplasia (PCH). METHOD: This was a retrospective single monocentre study. The inclusion criteria were decreased cerebellar biometry on dedicated neurosonography and available fetal Magnetic Resonance Imaging (MRI) with PCH diagnosis later confirmed either genetically or clinically on post-natal MRI or by autopsy. The exclusion criteria were non-available MRI and sonographic features suggestive of a known genetic or other pathologic diagnosis. The collected data were biometric or morphological imaging parameters, clinical outcome, termination of pregnancy (TOP), pathological findings and genetic analysis (karyotyping, chromosomal microarray, DNA sequencing targeted or exome). PCH was classified as classic, non-classic, chromosomal, or unknown type. RESULTS: Forty-two fetuses were diagnosed with PCH, of which 27 were referred for decreased transverse cerebellar diameter at screening ultrasound. Neurosonography and fetal MRI were performed at a mean gestational age of 29 + 4 and 31 + 0 weeks, respectively. Termination of pregnancy occurred. Pregnancy was terminated in 24 cases. Neuropathological examination confirmed the diagnosis in 24 cases and genetic testing identified abnormalities in 29 cases (28 families, 14 chromosomal anomaly). Classic PCH is associated with pontine atrophy and small MR measurements decreasing with advancing gestation. CONCLUSION: This is the first large series of prenatally diagnosed PCHs. Our study shows the essential contribution of fetal MRI to the prenatal diagnosis of PCH. Classic PCHs are particularly severe and are associated with certain MR features.
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Enfermedades Cerebelosas , Imagen por Resonancia Magnética , Diagnóstico Prenatal , Embarazo , Femenino , Humanos , Lactante , Estudios Retrospectivos , Estudios de Seguimiento , Diagnóstico Prenatal/métodos , Imagen por Resonancia Magnética/métodos , Ultrasonografía Prenatal/métodosRESUMEN
INTRODUCTION: We aim to correlate pre- and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. METHODS: Retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcomes. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. RESULTS: 48 fetuses were included. Median gestational age at first US/MRI examination: 29+2 WG and 31+6 WG, respectively. The prenatal diagnosis was in accordance with postnatal findings with regard to the cleft type in 88% of the cases (n = 42/48) for US and/or MRI, 84% (n = 38/45) for US only, and 90% (n = 37/41) for MRI only. The nasal septum deviation and nostril collapse were underestimated by prenatal US in 48% (n = 12/25) and 44% (n = 11/25) of cases, respectively (Cohen's kappa of 0.22 and 0.32, respectively). Pre- and postnatal examinations were in accordance with 75% of cases (n = 8) regarding evaluation of anteroposterior maxillary shift in case of unilateral alveolar cleft and in 90% and 80% of cases (n = 10) regarding the degree of protrusion/deviation of the premaxillary protrusion in case of bilateral cleft, respectively. CONCLUSION: Prenatal imaging can accurately assess the type of orofacial cleft and evaluate maxillary shift and deviation of the premaxilla. It underestimates the nose deformity.
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Labio Leporino , Fisura del Paladar , Femenino , Embarazo , Humanos , Fisura del Paladar/diagnóstico por imagen , Labio Leporino/diagnóstico por imagen , Estudios Retrospectivos , Diagnóstico Prenatal/métodos , ConsejoRESUMEN
Pre- and post-pubertal testicular tumors are two distinct entities in terms of epidemiology, diagnosis and treatment. Most pre-pubertal tumors are benign; the most frequent are teratomas, and the most common malignant tumors are yolk-sac tumors. Post-pubertal tumors are similar to those found in adults and are more likely to be malignant. Imaging plays a pivotal role in the diagnosis, staging and follow-up. The appearance on ultrasonography (US) is especially helpful to differentiate benign lesions that could be candidates for testis-sparing surgery from malignant ones that require radical orchidectomy. Some specific imaging patterns are described for benign lesions: epidermoid cysts, mature cystic teratomas and Leydig-cell tumors. Benign tumors tend to be well-circumscribed, with decreased Doppler flow on US, but malignancy should be suspected when US shows an inhomogeneous, not-well-described lesion with internal blood flow. Imaging features should always be interpreted in combination with clinical and biological data including serum levels of tumor markers and even intra-operative frozen sections in case of conservative surgery to raise any concerns of malignity. This review provides an overview of imaging features of the most frequent testicular and para-testicular tumor types in children and the value of imaging in disease staging and monitoring children with testicular tumors or risk factors for testicular tumors.
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OBJECTIVES: The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US). METHODS: It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data. RESULTS: Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good. CONCLUSION: Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.
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Meningomielocele , Disrafia Espinal , Líquido Amniótico , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Meningomielocele/diagnóstico por imagen , Embarazo , Estudios RetrospectivosRESUMEN
A wide range of craniofacial malformations can be diagnosed in utero using ultrasonography. However, even with highly experienced sonographers and diagnostic physicians and optimal conditions of examination, some anatomical structures cannot be properly analyzed by this technique. The aim of this pictorial essay is to show the additional value of fetal magnetic resonance imaging and computed tomography in this setting and to illustrate the role of these modalities in facial clefts; craniosynostosis; ear, eye and nose abnormalities; otomandibular dysplasias; and facial cephaloceles.
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Anomalías Craneofaciales , Anomalías Craneofaciales/diagnóstico por imagen , Cara/diagnóstico por imagen , Feto , Humanos , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos XRESUMEN
PURPOSE: We evaluated the diagnostic value of a high temporal resolution (HTR) dynamic contrast enhanced (DCE) sequence added to a FAST protocol. MATERIALS AND METHODS: 120 women (mean ageâ¯=â¯55 years (28-88)) who underwent breast MRI between July 2016 and March 2017 and in whom a biopsy was performed (i.e., gold standard) (nâ¯=â¯179: 69 benign, 7 borderline and 103 malignant lesions) were retrospectively and consecutively included. Two readers classified lesions according to the Breast Imaging-Reporting and Data System (BI-RADS) by reading: a FAST protocol (T1W, T2W, T1W-fat saturated 2â¯min after injection) and then a FULL standard protocol. Independently they determined if lesions were visible and when (Time To Enhancement (TTE)) on the HTR-DCE sequence. An Abbreviated protocol was then built using data from the HTR-DCE sequence added to the FAST protocol. RESULTS: All lesions were visible with the FAST protocol. 171/179 (95.5%) lesions were detected by reading theHTR-DCE sequence. There were a higher number of cancers rated BI-RADS 3 (PPV of malignancy of 27.6% (8/29) in FAST versus 18.7% (3/16) FULL protocol). An early enhancement on the HTR-DCE sequence (TTEâ¯<â¯31â¯s) was associated with malignancy with an OR 5.6 (CI 95%: 3.3-20.4) (pâ¯<â¯0.0001). Adding a TTEâ¯<â¯31â¯s to FAST analysis (AUROCâ¯=â¯0.826) significantly improved lesion characterization with a diagnostic gain of 10.6% (19/179) lesions correctly reclassified (pâ¯=â¯0.0034) compared to FAST protocol; with shorter acquisition time (7â¯min 48â¯s versus 13â¯min 54â¯s). CONCLUSION: Adding an HTR-DCE sequence to a FAST protocol increases diagnostic performance reaching that of the FULL protocol while reducing acquisition time.
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Neoplasias de la Mama/diagnóstico por imagen , Mama/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética , Adulto , Anciano , Anciano de 80 o más Años , Mama/patología , Neoplasias de la Mama/patología , Medios de Contraste , Femenino , Humanos , Interpretación de Imagen Asistida por Computador , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
OBJECTIVES: To assess the influence of gray-level discretization on inter- and intra-observer reproducibility of texture radiomics features on clinical MR images. MATERIALS AND METHODS: We studied two independent MRI datasets of 74 lacrymal gland tumors and 30 breast lesions from two different centers. Two pairs of readers performed three two-dimensional delineations for each dataset. Texture features were extracted using two radiomics softwares (Pyradiomics and an in-house software). Reproducible features were selected using a combination of intra-class correlation coefficient (ICC) and concordance and coherence coefficient (CCC) with 0.8 and 0.9 as thresholds, respectively. We tested six absolute and eight relative gray-level discretization methods and analyzed the distribution and highest number of reproducible features obtained for each discretization. We also analyzed the number of reproducible features extracted from computer simulated delineations representative of inter-observer variability. RESULTS: The gray-level discretization method had a direct impact on texture feature reproducibility, independent of observers, software or method of delineation (simulated vs. human). The absolute discretization consistently provided statistically significantly more reproducible features than the relative discretization. Varying the bin number of relative discretization led to statistically significantly more variable results than varying the bin size of absolute discretization. CONCLUSIONS: When considering inter-observer reproducible results of MRI texture radiomics features, an absolute discretization should be favored to allow the extraction of the highest number of potential candidates for new imaging biomarkers. Whichever the chosen method, it should be systematically documented to allow replicability of results.
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Imagen por Resonancia Magnética/métodos , Mama/patología , Simulación por Computador , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados , Programas InformáticosRESUMEN
BACKGROUND AND PURPOSE: The Medina embolization device (MED) is a new flow disruption device combining the design of a detachable coil with an intrasaccular flow disrupter. Safety and short-term angiographic effectiveness of this device have recently been reported. However, long-term angiographic results are lacking. We report herein the 18 months' angiographic outcome in patients treated for a wide-neck intracranial aneurysm with the MED. MATERIALS AND METHODS: Nineteen patients (17 female, mean age 50 years) with 20 wide-neck intracranial aneurysms (six ruptured; 14 unruptured) were treated by the MED between January 2015 and June 2016. Procedure-related complications were systematically recorded; discharge and 6-9 months' follow-up modified Rankin Scale scores were assessed. Angiographic mid-term and long-term follow-up were performed with a mean delay of 6.4±1.5 months (n=16 aneurysms) and 17.7±4.2 months (n=15 aneurysms), respectively. Occlusion rates were evaluated after the procedure and at the mid-term and long-term follow-up using the Roy-Raymond scale. RESULTS: Embolization with the MED was feasible in all except two cases (2/20, 10%). One per-procedural perforation was recorded (1/20, 5%) and one MED deployment failed because of the aneurysm's shape (1/20, 5%). Three cases of thromboembolic complications were observed (3/20, 15%). Only one thromboembolic complication was responsible for clinical sequelae. Grade A occlusion rate was 61% (11/18) after the procedure, 75% at 6 months' follow-up (12/16), and 80% (12/15) at long-term follow-up. Two cases (2/18, 11%) of recanalization at mid-term were documented angiographically. No recanalization occurred between the mid-term and long-term follow-up. CONCLUSION: MED is a hybrid embolization device, combining properties of a conventional coil with those of an intrasaccular flow disrupter. Our series focusing on long-term angiographic follow-up shows a satisfactory long-term occlusion rate. Larger series with longer angiographic follow-up times are warranted to confirm these preliminary results.
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Embolización Terapéutica/instrumentación , Embolización Terapéutica/métodos , Aneurisma Intracraneal/terapia , Adulto , Anciano , Angiografía Cerebral , Estudios de Seguimiento , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
OBJECTIVES: Osteoporotic vertebral compression fractures (OVCFs) are an important health issue for which minimally invasive techniques are a feasible treatment. The SpineJack® (Vexim) is an intravertebral expandable system designed to improve the correction of the structural modifications caused by OVCFs. Its ability to stabilise and reduce OVCFs at the acute phase being already well established, we sought to evaluate the feasibility of vertebral augmentation with the SpineJack® in chronic kyphotic OVCFs. METHODS: All consecutive patients treated with the SpineJack® were prospectively included if they met the following criteria: (1) OVCF considered unstable (grade A3 according to Magerl's classification). (2) Local kyphotic angle ≥ 20°. (3) OVCF older than 6 weeks. (4) Back pain with visual analogue scale (VAS) ≥ 4. RESULTS: Nineteen consecutive patients (16 women [84.2%] and 3 men [15.8%]; mean age 73.2 ± 8.2 years) were included. Treatment was performed after a mean delay of 5.8 months ± 2.9 (range 1.5-12). Median visual analogue scale significantly improved from 7 preoperatively (IQR 6-9) to 2 (IQR 1-5) at 6 months (p < 0.01). Significant kyphosis reduction (i.e. ≥ 30%) was obtained in 94.7% of cases. Secondary adjacent level fractures (SALFs) were noted in 21.1% of cases and were correlated with the importance of the kyphosis reduction. CONCLUSIONS: Vertebral augmentation with the SpineJack® is feasible and seems able to correct major structural deformities in chronic OVCFs. SALFs were noted in a substantial amount of cases. Preventive adjacent vertebroplasty might be useful in patients with several risk factors for SALFs. KEY POINTS: ⢠Vertebral augmentation with SpineJack® is effective to correct major structural deformities e.g. height loss and kyphosis. ⢠Successful reduction is reachable with SpineJack® in chronic (older than 6 weeks) OVCFs. ⢠Aggressive reduction of major kyphosis might promote SALFs and complementary adjacent vertebroplasties prevent their occurrence.
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Fracturas por Compresión/cirugía , Cifoplastia/métodos , Cifosis/cirugía , Fracturas Osteoporóticas/cirugía , Fracturas de la Columna Vertebral/cirugía , Vertebroplastia/métodos , Anciano , Anciano de 80 o más Años , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Estudios ProspectivosRESUMEN
BACKGROUND: The Medina Embolization Device (MED) is a new concept device that combines the design of a detachable coil and the one of an intrasaccular flow disruption device. OBJECTIVE: To evaluate the feasibility, safety, and 6- to 9-mo effectiveness of this new device for the treatment of intracranial wide-necked aneurysms. METHODS: Twelve patients (10 females, mean age = 56 yr) with 13 wide-necked intracranial aneurysms (3 ruptured; 10 unruptured) were treated by means of the MED from January 2015 to October 2015. In 15% of the cases, MEDs were used in a standalone fashion; in 85% of the cases, additional regular coils were used. Adjunctive compliant balloon was used in 4 of 13 cases (31%). Procedure-related complications were systematically recorded; discharge and 6- to 9-mo follow-up modified Rankin Scale was assessed. Angiographic follow-up was performed with a mean delay of 5.5 ± 1.7 mo. Occlusion rate was evaluated in postprocedure and at midterm follow-up using the Roy-Raymond scale. RESULTS: The deployment of the MED was feasible in all cases. No perforation was recorded. One case of thromboembolic complication was observed in a ruptured anterior communicating artery aneurysm, without any clinical consequence at follow-up. Grade A occlusion rate was 61.5% in postprocedure and 83% at 6-mo follow-up. Two cases (17%) of recanalization were documented angiographically. CONCLUSION: The MED is a new generation device combining the design of a detachable coil and an intrasaccular flow disruption device. According to our early experience, this device is safe and provides a satisfactory occlusion rate at angiographic follow-up of 6 mo.