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1.
AJNR Am J Neuroradiol ; 41(12): 2358-2363, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33122204

RESUMEN

BACKGROUND AND PURPOSE: Whether architectural characteristics of ruptured brain AVMs vary across the life span is unknown. We aimed to identify angioarchitectural features associated with brain AVMs ruptured early in life. MATERIALS AND METHODS: Patients with ruptured brain AVMs referred to 2 distinct academic centers between 2000 and 2018 were pooled and retrospectively analyzed. Imaging was retrospectively reviewed for angioarchitectural characteristics, including nidus size, location, Spetzler-Martin grade, venous drainage, and arterial or nidal aneurysm. Angioarchitecture variations across age groups were analyzed using uni- and multivariable models; then cohorts were pooled and analyzed using Kaplan-Meier and Cox models to determine factors associated with earlier rupture. RESULTS: Among 320 included patients, 122 children (mean age, 9.8 ± 3.8 years) and 198 adults (mean age, 43.3 ± 15.7 years) were analyzed. Pediatric brain AVMs were more frequently deeply located (56.3% versus 21.2%, P < .001), with a larger nidus (24.2 versus 18.9 mm, P = .002), were less frequently nidal (15.9% versus 23.5%, P = .03) and arterial aneurysms (2.7% versus 17.9%, P < .001), and had similar drainage patterns or Spetzler-Martin grades. In the fully adjusted Cox model, supratentorial, deep brain AVM locations (adjusted relative risk, 1.19; 95% CI, 1.01-1.41; P = .03 and adjusted relative risk, 1.43; 95% CI, 1.22-1.67; P < .001, respectively) and exclusively deep venous drainage (adjusted relative risk, 1.46, 95% CI, 1.21-1.76; P < .001) were associated with earlier rupture, whereas arterial or nidal aneurysms were associated with rupture later in life. CONCLUSIONS: The angioarchitecture of ruptured brain AVMs significantly varies across the life span. These distinct features may help to guide treatment decisions for patients with unruptured AVMs.


Asunto(s)
Fístula Arteriovenosa/patología , Malformaciones Arteriovenosas Intracraneales/patología , Adolescente , Adulto , Fístula Arteriovenosa/diagnóstico por imagen , Niño , Estudios de Cohortes , Femenino , Humanos , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Neuroimagen/métodos , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Rotura , Adulto Joven
2.
Sci Rep ; 10(1): 6379, 2020 04 14.
Artículo en Inglés | MEDLINE | ID: mdl-32286406

RESUMEN

Humans show great interindividual variability in the degree they engage in social relationship. The neural basis of this variability is still poorly understood, particularly in children. In this study, we aimed to investigate the neural basis of interindividual variability in the first step of social behavior, that is social perception, in typically developing children. For that purpose, we first used eye-tracking to objectively measure eye-gaze processing during passive visualization of social movie clips in 24 children and adolescents (10.5 ± 2.9 y). Secondly, we correlated eye-tracking data with measures of fractional anisotropy, an index of white matter microstructure, obtained using diffusion tensor imaging MRI. The results showed a large interindividual variability in the number of fixations to the eyes of characters during visualization of social scenes. In addition, whole-brain analysis showed a significant positive correlation between FA and number of fixations to the eyes,mainly in the temporal part of the superior longitudinal fasciculi bilaterally, adjacent to the posterior superior temporal cortex. Our results indicate the existence of a neural signature associated with the interindividual variability in social perception in children, contributing for better understanding the neural basis of typical and atypical development of a broader social expertise.


Asunto(s)
Corteza Cerebral/fisiología , Red Nerviosa/fisiología , Percepción Social , Sustancia Blanca/fisiología , Adolescente , Niño , Imagen de Difusión Tensora , Femenino , Fijación Ocular , Humanos , Masculino
3.
AJNR Am J Neuroradiol ; 40(11): 1818-1823, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31624116

RESUMEN

BACKGROUND: The detection of incidental findings on children's brain MR imaging poses various practical issues because the life-long implications of such findings may be profound. PURPOSE: Our aim was to assess the prevalence and characteristics of incidental brain MR imaging findings in children. DATA SOURCES: Electronic databases (PubMed, EMBASE, and Cochrane) were searched for articles published between 1985 to July 2018, with the following search terms: "incidental," "findings," "brain," "MR imaging." STUDY SELECTION: Inclusion criteria were the following: 1) patients younger than 21 years of age, 2) healthy children without any clinical condition, 3) MR images obtained with at least a 1.5T magnet, 4) original articles, and 5) a methodologic quality score of ≥10. DATA ANALYSIS: Two observers independently extracted data and assessed data quality and validity. The number and type of incidental findings were pooled. Heterogeneity was assessed using the Cochran Q statistic and the I2 statistic. DATA SYNTHESIS: Seven studies were included, reporting 5938 children (mean age, 11.3 ± 2.8 years). Incidental findings were present in 16.4% (99% CI, 9.8-26.2; Q = 117.5, I2= 94.9%) of healthy children, intracranial cysts being the most frequent (10.2%, 99% CI, 3.1-28.5; Q = 306.4, I2 = 98.0%). Nonspecific white matter hyperintensities were reported in 1.9% (99% CI, 0.2-16.8; Q = 73.6, I2 = 94.6%), Chiari 1 malformation was found in 0.8% (99% CI, 0.5-1.3; Q = 7.6, I2 = 60.5%), and intracranial neoplasms were reported in 0.2% (99% CI, 0.1-0.6; Q = 3.4, I2 = 12.3%). In total, the prevalence of incidental findings needing follow-up was 2.6% (99% CI, 0.5-11.7; Q = 131.2, I2 = 95.4%). Incidental findings needing specific treatment were brain tumors (0.2%) and cavernomas (0.2%). LIMITATIONS: Limitations were no age stratification or ethnicity data and variation in the design of included studies. CONCLUSIONS: The prevalence of incidental findings is much more frequent in children than previously reported in adults, but clinically meaningfull incidental findings were present in <1 in 38 children.


Asunto(s)
Encefalopatías/epidemiología , Hallazgos Incidentales , Adolescente , Adulto , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Prevalencia , Adulto Joven
4.
AJNR Am J Neuroradiol ; 40(4): 732-736, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30846437

RESUMEN

BACKGROUND AND PURPOSE: Embryonal tumors with multilayered rosettes, C19MC-altered, are brain tumors occurring in young children, which were clearly defined in the 2016 World Health Organization classification of central nervous system neoplasms. Our objective was to describe the multimodal imaging characteristics of this new entity. MATERIALS AND METHODS: We performed a retrospective monocentric review of embryonal brain tumors and looked for embryonal tumors with multilayered rosettes with confirmed C19MC alteration. We gathered morphologic imaging data, as well as DWI and PWI data (using arterial spin-labeling and DSC). RESULTS: We included 16 patients with a median age of 2 years 8 months. Tumors were both supratentorial (56%, 9/16) and infratentorial (44%, 7/16). Tumors were large (median diameter, 59 mm; interquartile range, 48-71 mm), with absent (75%, 12/16) or minimal (25%, 4/16) peritumoral edema. Enhancement was absent (20%, 3/15) or weak (73%, 11/15), whereas intratumoral macrovessels were frequently seen (94%, 15/16) and calcifications were present in 67% (10/15). Diffusion was always restricted, with a minimal ADC of 520 mm2/s (interquartile range, 495-540 mm2/s). Cerebral blood flow using arterial spin-labeling was low, with a maximal CBF of 43 mL/min/100 g (interquartile range, 33-55 mL/min/100 g 5). When available (3 patients), relative cerebral blood volume using DSC was high (range, 3.5-5.8). CONCLUSIONS: Embryonal tumors with multilayered rosettes, C19MC-altered, have characteristic imaging features that could help in the diagnosis of this rare tumor in young children.


Asunto(s)
Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Neoplasias de Células Germinales y Embrionarias/diagnóstico por imagen , Neoplasias de Células Germinales y Embrionarias/patología , Neuroimagen/métodos , Preescolar , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética/métodos , Masculino , Imagen Multimodal/métodos , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos
6.
AJNR Am J Neuroradiol ; 38(3): 633-638, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28104640

RESUMEN

BACKGROUND AND PURPOSE: Differentiating major subtypes of cervicofacial vascular lesions is crucial for appropriate management. The aim of our study was to evaluate the performance of an MR imaging arterial spin-labeling perfusion sequence in discriminating pediatric cervicofacial soft-tissue vascular anomalies. MATERIALS AND METHODS: We conducted a retrospective analysis of data from a prospectively maintained registry including pediatric patients at a tertiary pediatric center between January 2012 and January 2014. We included pediatric patients with a final diagnosis of soft-tissue vascular anomalies and an MR imaging, including an arterial spin-labeling sequence at presentation. We performed an analysis of lesion perfusion, blinded to clinical data, by using concurrent spiral 3D pseudocontinuous arterial spin-labeling (1.5T magnet; spiral matrix, 512 × 8 mm; postlabeling delay, 1025 ms). Lesional flow was recorded with calibrated intralesional ROIs. Perfusion characteristics were compared among lesion subtypes with the Mood Median test. RESULTS: Among 840 patients screened, 46 matched the inclusion criteria and were included (median age, 1.45 years; interquartile range, 0.4-5.1 years; 27 females). Hemangiomas, including infantile hemangiomas (n = 18 patients) and noninvoluting (n = 2) and rapidly involuting (n = 1) congenital types, demonstrated marked hyperperfusion (median flow, 436 mL/min/100 g; interquartile range, 212.5-603 mL/min/100 g), significantly higher than that of lymphatic malformations (median, 22.5 mL/min/100 g; interquartile range, 16-60 mL/min/100 g; P < .001) or venous malformations (median, 25 mL/min/100 g; interquartile range, 15-66.5 mL/min/100 g; P = .003). CONCLUSIONS: MR imaging arterial spin-labeling is a valuable tool for the assessment of soft-tissue vascular anomaly hemodynamics and for the classification of major lesion subtypes.


Asunto(s)
Hemangioma/congénito , Hemangioma/diagnóstico por imagen , Marcadores de Spin , Malformaciones Vasculares/diagnóstico por imagen , Adolescente , Niño , Preescolar , Cara/irrigación sanguínea , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Lactante , Sistema Linfático/anomalías , Imagen por Resonancia Magnética , Masculino , Sistema de Registros , Estudios Retrospectivos , Venas/anomalías , Venas/diagnóstico por imagen , Arteria Vertebral/anomalías , Arteria Vertebral/diagnóstico por imagen
7.
AJNR Am J Neuroradiol ; 37(4): 706-12, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26585258

RESUMEN

BACKGROUND AND PURPOSE: The severity of Moyamoya disease is generally scaled with conventional angiography and nuclear medicine. Arterial spin-labeling MR imaging is now acknowledged for the noninvasive quantification of cerebral blood flow. This study aimed to analyze CBF modifications with statistical parametric mapping of arterial spin-labeling MR imaging in children undergoing an operation for Moyamoya disease. MATERIALS AND METHODS: We included 15 children treated by indirect cerebral revascularization with multiple burr-holes between 2011 and 2013. Arterial spin-labeling MR imaging and T1 sequences were then analyzed under SPM8, according to the general linear model, before and after the operation (3 and 12 months). Voxel-based analysis was performed at the group level, comparing all diseased hemispheres with all normal hemispheres and, at the individual level, comparing each patient with a control group. RESULTS: Group analysis showed statistically significant preoperative hypoperfusion in the MCA territory in the Moyamoya hemispheres and a significant increase of cerebral perfusion in the same territory after revascularization (P < .05 family-wise error-corrected). Before the operation, individual analysis showed significant hypoperfusion for each patient co-localized with the angiographic defect on DSA. All except 1 patient had improvement of CBF after revascularization, correlated with their clinical status. CONCLUSIONS: SPM analysis of arterial spin-labeling MR imaging offers a noninvasive evaluation of preoperative cerebral hemodynamic impairment and an objective assessment of postoperative improvement in children with Moyamoya disease.


Asunto(s)
Revascularización Cerebral/métodos , Enfermedad de Moyamoya/fisiopatología , Enfermedad de Moyamoya/cirugía , Procedimientos Neuroquirúrgicos/métodos , Angiografía de Substracción Digital , Angiografía Cerebral , Arterias Cerebrales/diagnóstico por imagen , Circulación Cerebrovascular , Niño , Preescolar , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Arteria Cerebral Media/diagnóstico por imagen , Arteria Cerebral Media/fisiopatología , Enfermedad de Moyamoya/diagnóstico por imagen , Marcadores de Spin , Resultado del Tratamiento
8.
AJNR Am J Neuroradiol ; 36(9): 1786-90, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26021621

RESUMEN

Pediatric choroid plexus papillomas and carcinomas are highly vascularized neoplasms, which are difficult to distinguish with conventional imaging. We aimed to analyze the diagnostic accuracy of PWI, by using both pseudocontinuous arterial spin-labeling and DSC-PWI. We reviewed the PWI of 13 children with choroid plexus neoplasms (7 papillomas and 6 carcinomas). We quantified CBF, relative CBF, and relative CBV in each lesion and compared papillomas and carcinomas. Relative CBF values by using arterial spin-labeling were significantly higher for carcinomas (P = .028). The median value of relative CBF was 1.7 (range, 1.4-1.9) for carcinomas and 0.4 (range, 0.3-0.6) for papillomas. The CBF median value was 115 mL/min/100 g (range, 90-140 mL/min/100 g) for carcinomas and 41 mL/min/100 g (range, 10-73 mL/min/100 g) for papillomas (P = .056). Measures with DSC-PWI were more variable and not significantly different (P = .393). Arterial spin-labeling is a promising technique to differentiate choroid plexus carcinomas and papillomas.


Asunto(s)
Carcinoma/diagnóstico , Neoplasias del Plexo Coroideo/diagnóstico , Neuroimagen/métodos , Papiloma del Plexo Coroideo/diagnóstico , Niño , Preescolar , Femenino , Humanos , Masculino
9.
Rev Neurol (Paris) ; 171(1): 45-57, 2015 Jan.
Artículo en Francés | MEDLINE | ID: mdl-25555853

RESUMEN

Moya-Moya disease is a rare arterial occlusive disease affecting the internal carotid artery and its branches. It is found in both pediatric and adult populations, and it may lead to severe clinical presentations such as stroke and intracranial hemorrhage. Several surgical procedures have been developed to improve its clinical outcome. Imaging techniques have a key role in management of Moya-Moya disease, as they are necessary for diagnosis, choice of treatment and follow-up. Although catheter angiography remains the diagnostic gold standard, and nuclear-medicine techniques best perform hemodynamic studies, less invasive imaging techniques have become efficient in serving these purposes. Conventional MRI and MR angiography, as well as MR functional and metabolic studies, are now widely used in each stage of disease management, from diagnosis to follow-up. CT scan and Doppler sonography may also help assess severity of disease and effects of treatment. The aim of this review is to clarify the utility, efficiency and latest developments of each imaging modality in management of Moya-Moya disease.


Asunto(s)
Diagnóstico por Imagen/métodos , Enfermedad de Moyamoya/diagnóstico , Adulto , Angiografía Cerebral/métodos , Ecoencefalografía/métodos , Humanos , Angiografía por Resonancia Magnética/métodos , Tomografía Computarizada por Rayos X/métodos , Ultrasonografía Doppler , Dispositivos de Acceso Vascular
10.
J Med Genet ; 51(7): 429-35, 2014 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-24793058

RESUMEN

Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is difficult and genotype/phenotype correlations remain elusive. Brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we summarise the various combinations of MRI lesions observed in the most frequent mitochondrial respiratory chain deficiencies so as to direct molecular genetic test in patients at risk of such diseases. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.


Asunto(s)
Encéfalo/metabolismo , Proteínas del Complejo de Cadena de Transporte de Electrón/deficiencia , Enfermedades Mitocondriales/patología , Encéfalo/patología , Estudios de Asociación Genética , Humanos , Imagen por Resonancia Magnética , Enfermedades Mitocondriales/metabolismo , Neuroimagen , Ubiquinona/deficiencia
11.
Rev Neurol (Paris) ; 170(5): 381-9, 2014 May.
Artículo en Francés | MEDLINE | ID: mdl-24768439

RESUMEN

Mitochondrial diseases are due to deficiency of the respiratory chain and are characterized by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Some clinical presentations are highly suggestive of given gene mutations, allowing rapid genetic diagnosis. However, owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is frequently difficult and genotype/phenotype correlations remain elusive. For this reason, brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we report the most frequent neuroradiological signs in mitochondrial respiratory chain deficiency and we propose a diagnostic algorithm based on neuroimaging features, so as to direct molecular genetic tests in patients at risk of mitochondrial respiratory chain deficiency. This algorithm is based on the careful analysis of five areas on brain MRI: (1) basal ganglia (hyperintensities on T2 or calcifications); (2) cerebellum (hyperintensities on T2 or atrophy); (3) brainstem (hyperintensities on T2 or atrophy); (4) white matter (leukoencephalopathy); (5) cortex (sub-tentorial atrophy); (6) stroke-like episodes. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.


Asunto(s)
Algoritmos , Transporte de Electrón/genética , Imagen por Resonancia Magnética , Enfermedades Mitocondriales/diagnóstico , Enfermedades Mitocondriales/genética , Neuroimagen/métodos , Encéfalo/patología , Árboles de Decisión , Humanos , Enfermedades Mitocondriales/epidemiología , Mutación
12.
Clin Radiol ; 68(8): e453-9, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23663874

RESUMEN

AIM: To elucidate the natural history of dot-like or "black spot" cavernomas. MATERIALS AND METHODS: Data of 18 children with black spot cavernomas were analysed retrospectively. RESULTS: Eleven boys and seven girls presented 187 black spot cavernomas during a mean observation period of 5.5 years. Mean and median age at diagnosis of the 187 cavernomas was 9.6 years. There were 70 de novo black spot cavernomas. Boys presented significantly more cavernomas than girls. There were three KRIT1 mutation carriers and four PDCD 10 mutation carriers. Children with a PDCD 10 mutation presented significantly more lesions than those children with a KRIT1 mutation (mean number of lesions per patient: 23.3 versus 3.3, respectively). There were 10 radiological haemorrhagic events caused by 10 black spot lesions. Two of these events were symptomatic. The haemorrhage rate of black spot cavernomas was 0.7% per lesion-year. CONCLUSIONS: A mean bleeding rate of 0.7% per lesion-year is lower than the overall haemorrhage rates provided in the literature. Nonetheless, black spot cavernomas are not purely benign lesions. Furthermore, genetic mutations may play a role in the natural history of black spot cavernomas.


Asunto(s)
Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico , Imagen por Resonancia Magnética/métodos , Adolescente , Niño , Preescolar , Femenino , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Humanos , Lactante , Masculino , Mutación , Estudios Retrospectivos
13.
Ultrasound Obstet Gynecol ; 42(5): 553-9, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23349068

RESUMEN

OBJECTIVE: To determine whether a standard complete fetal anatomical survey, as recommended for ultrasound examination guidelines, is feasible using a standardized magnetic resonance imaging (MRI) protocol. METHODS: Based on guidelines for ultrasound examination, we created a specific MRI protocol for fetal anatomical survey. This protocol was then tested prospectively in 100 women undergoing fetal MRI examination for various specific indications at a median gestational age of 30 weeks. The feasibility of using MRI to perform the fetal anatomical survey was analyzed by two reviewers (A and B) based on 26 predefined anatomical criteria, yielding a score ranging from 0 to 26 (26 meaning successful complete anatomical study). Reproducibility was analyzed using percentage agreement and modified kappa statistics. RESULTS: The mean score for the standardized MRI anatomical survey was 24.6 (SD, 1.4; range, 15-26) for Reviewer A and 24.2 (SD, 1.7; range, 15-26) for Reviewer B (P = 0.1). Twenty-two, two and two criteria could be assessed in > 95%, 80-95% and < 80% of cases by Reviewer A and 19, four and three criteria could be assessed in > 95%, 80-95% and < 80% of cases by Reviewer B. For both reviewers, the two most difficult criteria to evaluate were aorta and pulmonary artery. Inter-reviewer agreement was above 90% for 22 of the 26 anatomical criteria and adjusted kappa coefficients for each criterion demonstrated good, moderate and poor agreement for 22, two and two criteria, respectively. CONCLUSION: Our data support the hypothesis that standardized fetal anatomical examination might be achieved and reproducible using MRI, although improvement is required for the cardiac part of the examination.


Asunto(s)
Biometría/métodos , Desarrollo Fetal/fisiología , Feto/anatomía & histología , Imagen por Resonancia Magnética/normas , Estudios de Factibilidad , Femenino , Edad Gestacional , Humanos , Imagen por Resonancia Magnética/métodos , Embarazo , Estudios Prospectivos , Reproducibilidad de los Resultados
14.
Ultrasound Obstet Gynecol ; 42(2): 161-8, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22945478

RESUMEN

OBJECTIVES: (1) To study the use and diagnostic value, as a complement to ultrasound, of helical computed tomography (helical CT) to differentiate normal fetuses from cases of skeletal dysplasia; (2) to define the most relevant indications for helical CT; and (3) to evaluate its diagnostic performance with respect to radiological criteria considered discriminatory. METHODS: This was a retrospective study from 2005 to 2008 in 67 pregnant women who underwent helical CT after 26 weeks of gestation for suspected fetal skeletal dysplasia due to fetal shortened long bones on ultrasound (≤ 10(th) percentile), either alone or associated with other bone abnormalities. The results were compared with pediatric examinations in 41 cases and with fetal autopsy findings after elective termination of pregnancy in the others. RESULTS: Helical CT had a sensitivity of 82%, specificity of 91% and positive and negative predictive values of 90% and 83%, respectively, for diagnosis of fetal skeletal dysplasia. An etiological diagnosis that had not been suspected at ultrasound was specified in 15% of cases and diagnoses suspected at ultrasound were confirmed in 24% and discounted in 43% of cases. The prevalence of skeletal dysplasia was increased in cases of micromelia < 3(rd) percentile or if there was a combination of bone signs. Helical CT showed 69% sensitivity in identifying individual predefined pathological bone signs which were confirmed on fetal autopsy findings. CONCLUSION: Helical CT is a key examination, in combination with ultrasound, in the diagnosis of fetal skeletal dysplasia from 26 weeks of gestation. It should be reserved for cases with severe micromelia below the 3(rd) percentile and for those with micromelia ≤ 10(th) percentile associated with another bone sign. A checklist of discriminatory signs is proposed.


Asunto(s)
Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Tomografía Computarizada Espiral/métodos , Femenino , Fémur/anomalías , Peroné/anomalías , Edad Gestacional , Humanos , Húmero/anomalías , Imagenología Tridimensional , Masculino , Embarazo , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Sensibilidad y Especificidad , Tibia/anomalías
16.
Rev Neurol (Paris) ; 168(10): 762-70, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22981269

RESUMEN

The most common clinical sign of autism spectrum disorders (ASD) is social interaction impairment, which is associated with communication deficits and stereotyped behaviors. Based on brain-imaging results, our hypothesis is that abnormalities in the superior temporal sulcus (STS) are highly implicated in ASD. These abnormalities are characterized by decreased grey matter concentration, rest hypoperfusion and abnormal activation during social tasks. STS anatomofunctional anomalies occurring early across brain development could constitute the first step in the cascade of neural dysfunctions underlying autism. It is known that STS is highly implicated on social perception processing, from perception of biological movements, such as body movements or eye gaze, to more complex social cognition processes. Among the impairments that can be described in social perception processing, eye gaze perception is particularly relevant in autism. Gaze abnormalities can now be objectively measured using eye-tracking methodology. In the present work, we will review recent data on STS contributions to normal social cognition and its implication in autism, with particular focus on eye gaze perception.


Asunto(s)
Trastorno Autístico/fisiopatología , Cognición/fisiología , Percepción Social , Lóbulo Temporal/fisiología , Trastorno Autístico/diagnóstico por imagen , Movimientos Oculares/fisiología , Humanos , Imagen por Resonancia Magnética , Tomografía de Emisión de Positrones , Radiografía , Conducta Social , Lóbulo Temporal/fisiopatología
17.
Rev Epidemiol Sante Publique ; 60(5): 363-70, 2012 Oct.
Artículo en Francés | MEDLINE | ID: mdl-22981307

RESUMEN

BACKGROUND: The "Cohorte Enfant Scanner", a study designed to investigate the risk of radiation-induced cancer after childhood exposure to CT (computed tomography) examinations, used clinical information contained in the "programme de médicalisation des systèmes d'information" (PMSI) database, the French hospital activities national program based upon diagnosis related groups (DRG). However, the quality and adequacy of the data for the specific needs of the study should be verified. The aim of our work was to estimate the percentage of the cohort's children identified in the PMSI database and to develop an algorithm to individualize the children with a cancer or a disease at risk of cancer from medical diagnoses provided by the DRGs database. METHODS: Of the 1519 children from the "Cohorte Enfant Scanner", who had had a CT scan in the radiology department of a university hospital in 2002, a cross linkage was performed with the DRGs database. All hospitalizations over the period 2002-2009 were taken into account. An algorithm was constructed for the items "cancer" and "disease at risk for cancer" on a sample of 150 children. The algorithm was then tested on the entire population. RESULTS: Overall, 74% of our population was identified in the DRGs database. The algorithm individualized cancer diagnoses with 91% sensitivity (95% confidence interval [95%CI]: 86%; 97%) and 98% specificity (95%CI: 97%; 99%) and 86% positive predictive value (95%CI: 80%; 93%). For the diagnosis of disease at risk for cancer, the sensitivity, specificity and positive predictive value were respectively 91% (95%CI: 84%; 98%), 94% (95%CI: 92%; 95%) and 52% (95%CI: 43%; 61%). CONCLUSION: The DRG database identified with excellent sensitivity and specificity children with diagnoses of cancer or disease at risk for cancer. Hence, potential confounding factors related to the disease of the child can be taken into account for analyses performed with the cohort.


Asunto(s)
Bases de Datos Factuales/estadística & datos numéricos , Diseño de Investigaciones Epidemiológicas , Sistemas de Información en Hospital/estadística & datos numéricos , Hospitalización/estadística & datos numéricos , Revisión de Utilización de Seguros/estadística & datos numéricos , Neoplasias Inducidas por Radiación/diagnóstico , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Edad de Inicio , Algoritmos , Preescolar , Estudios de Cohortes , Estudios Epidemiológicos , Femenino , Hospitalización/economía , Humanos , Lactante , Recién Nacido , Masculino , Neoplasias Inducidas por Radiación/epidemiología , Pronóstico , Sensibilidad y Especificidad
18.
Rev Mal Respir ; 29(6): 820-35, 2012 Jun.
Artículo en Francés | MEDLINE | ID: mdl-22742469

RESUMEN

Congenital lung malformations include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. They may, however, be discovered later, incidentally or in connection with non-specific symptoms, sometimes severe. Knowledge of their radiological appearances is necessary for their detection. Proper technique and analysis of cross-sectional imaging, computed tomography and magnetic resonance imaging, allow a definitive diagnosis in most patients and pre-treatment evaluation of surgical cases. This review will describe the radiological aspects of congenital pulmonary malformations, especially those which may occur in late childhood or adult life. When present, alternative diagnoses will be discussed. A distinction will be made between anomalies originating from bronchopulmonary structures, such as bronchial atresia, bronchogenic cyst, congenital lobar overinflation, cystic adenomatoid malformation, and forms related to vascular anomalies (vascular rings, anomalous left pulmonary artery, pulmonary underdevelopment, proximal interruption of the pulmonary artery, pulmonary sequestration, scimitar syndrome).


Asunto(s)
Pulmón/anomalías , Tomografía Computarizada por Rayos X/métodos , Humanos , Pulmón/diagnóstico por imagen
19.
Ultrasound Obstet Gynecol ; 40(6): 652-8, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22605540

RESUMEN

OBJECTIVE: To evaluate the prognosis of prenatally diagnosed vein of Galen aneurysmal malformation (VGAM) in a large cohort with this condition and to review the literature on prenatally diagnosed VGAM. METHODS: This was a retrospective study of all cases of prenatally diagnosed VGAM managed in our referral center during a 12-year period. VGAM was categorized as being either isolated or associated with any other abnormality, based on fetal ultrasound and magnetic resonance imaging findings. Poor outcomes comprised termination of pregnancy with confirmation of antenatal findings, perinatal death and severe cardiac and/or neurological impairment in survivors. The literature was also reviewed for similar cases. RESULTS: Twenty-one cases of prenatally diagnosed VGAM were managed in our center. Four (19.0%) cases were isolated and 17 (81.0%) were associated with other anomalies. There were nine terminations (42.9%) and six neonatal deaths (28.6%). Six children (28.6%) were still alive at last follow-up, of whom three had abnormal neurological development. VGAM associated with other anomalies was strongly associated with a poor outcome compared with isolated forms (P < 0.0001). One hundred and nine cases from the literature were also reviewed. CONCLUSION: Fetuses with prenatally diagnosed VGAM have unexpectedly poor outcomes in the presence of cardiac or cerebral anomalies, while those with strictly isolated VGAM tend to have more favorable outcomes. Our literature review corroborates these findings.


Asunto(s)
Malformaciones de la Vena de Galeno/mortalidad , Aborto Inducido/estadística & datos numéricos , Adulto , Embolización Terapéutica/métodos , Femenino , Muerte Fetal/etiología , Humanos , Imagen por Resonancia Magnética/métodos , Embarazo , Resultado del Embarazo , Atención Prenatal/métodos , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Malformaciones de la Vena de Galeno/diagnóstico , Malformaciones de la Vena de Galeno/terapia
20.
Arch Pediatr ; 19(5): 547-50, 2012 May.
Artículo en Francés | MEDLINE | ID: mdl-22483964

RESUMEN

Understanding of brain structural anomalies seen in children with autism has considerably progressed since the apparition of MRI and functional imaging. All the results are converging toward the description of anatomical and functional anomalies in the regions of the so-called "social brain". Statistical analyses show diminution of gray matter in the region of the superior temporal sulcus (STS). Functional studies with PET shows a diminution of brain blood flow at rest in the same region. Brain activation studies show absence of activation of the specialized region in processing human voice and hypoactivation of "social brain" regions in complex tasks of social cognition. At last, abnormal connectivity between the frontal and temporal regions has been showed. Those regions are implicated in processing sensorial inputs necessary for normal social life. All those anomalies could be responsible of the abnormal social behaviour pattern of children with autism.


Asunto(s)
Trastorno Autístico/diagnóstico , Neuroimagen , Niño , Humanos , Imagen por Resonancia Magnética , Tomografía de Emisión de Positrones , Tomografía Computarizada de Emisión de Fotón Único
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