Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associate... more Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
This paper presents an automatic method for the segmentation, internal classification and follow-... more This paper presents an automatic method for the segmentation, internal classification and follow-up of optic pathway gliomas (OPGs) from multi-sequence MRI datasets. Our method starts with the automatic localization of the OPG and its core with an anatomical atlas followed by a binary voxel classification with a probabilistic tissue model whose parameters are estimated from the MR images. The method effectively incorporates prior location, tissue characteristics, and intensity information for the delineation of the OPG boundaries in a consistent and repeatable manner. Internal classification of the segmented OPG volume is then obtained with a robust method that overcomes grey-level differences between learning and testing datasets. Experimental results on 25 datasets yield a mean surface distance error of 0.73 mm as compared to manual segmentation by experienced radiologists. Our method exhibits reliable performance in OPG growth follow-up MR studies, which are crucial for monitorin...
Mild fetal cerebral ventriculomegaly was the subject of one presentation that was given on the ve... more Mild fetal cerebral ventriculomegaly was the subject of one presentation that was given on the very first day of the first ISUOG congress, in 1991. It was a brand new topic then. Surprisingly enough, the terms of the problem are not very different 12 years later. The definition of the condition is unchanged (a measurement of the atrium or posterior horn of lateral ventricle of 10–15 mm in the transverse plane, or 10–12 mm according to a different view), the clinical implications virtually the same (the finding carries an increased risk of adverse outcomes, including mostly malformations, aneuploidies and neurologic sequelae). The approach has not changed and the data to counsel the couples with are pretty much the same (once malformations, aneuploidies and infections are ruled out, most of the infants do well but there remains a slight risk of a major cerebral abnormality, in the range of about 4%, and a very uncertain risk of minor disabilities). The reasons beyond this failure of progress in the knowledge about this conditions are heterogeneous. Some of them are simply practical (it is very difficult to obtain appropriate follow-up data). Some of them are biological (mild ventriculomegaly includes a very heterogenous group of both normal variants and underlying brain damage of variable etiology and entity). Although diagnostic refinement is possible by high resolution expert neurosonography and other imaging techniques such as MRI, it is unlikely that a solution to the problems posed by this finding will be possible in the near future. In a way, mild ventriculomegaly represents a turning point in the story of fetal sonography. For the first time, couples were counseled on a purely probabilistic basis that their offspring could be anything from completely normal to severely brain damaged. Tremendous uncertainties and suffering continue to be involved in the decision making process. In a way, mild fetal cerebral ventriculomegaly marked the end of an age of innocence.
Hypoxic–ischemic encephalopathy is an important cause of neuropsychological deficits. Little is k... more Hypoxic–ischemic encephalopathy is an important cause of neuropsychological deficits. Little is known about brain diffusivity in these infants following cooling and its potential in predicting outcome. Diffusion tensor imaging was applied to 3 groups: (1) three infants with hypoxic–ischemic encephalopathy: cooled; (2) three infants with hypoxic–ischemic encephalopathy: noncooled; and (3) four controls. Diffusivity values at the corticospinal tract, thalamus, and putamen were correlated with Apgar scores and early neurodevelopmental outcome. While cooled infants exhibited lower Apgar scores than noncooled infants, their developmental scores at a mean age of 8 months were higher. All groups differed in their diffusivity values with the cooled infants showing better values compared with the noncooled, correlating with early neurodevelopmental outcome. These preliminary results indicate that diffusion tensor imaging performed at an early age in infants with hypoxic–ischemic encephalopat...
MR diffusion-weighted imaging provides early demonstration of neonatal brain infarction. The evol... more MR diffusion-weighted imaging provides early demonstration of neonatal brain infarction. The evolution and limitations of diffusion-weighted imaging findings in newborns, however, have not been evaluated. Using line-scan diffusion imaging (LSDI), we investigated perinatal ischemic brain injury. Nineteen term newborns (age, 9 hours to 8 days; mean age, 2.6 days) with perinatal brain ischemia were evaluated using LSDI (1520/62.5/1 [TR/TE/excitations]) (b maximum = 750 s/mm2) and T1- and T2-weighted spin-echo (conventional) MR imaging. Follow-up examinations were performed in seven patients and autopsy in one. Apparent diffusion coefficients (ADCs) were measured in deep gray matter, white matter, the cortex, and focal lesions. Based on conventional MR imaging or pathologic findings, patients were divided into two groups. Group 1 (n = 12) had symmetric/diffuse injury consistent with global hypoperfusion. Group 2 (n = 7) had focal/multifocal injury suggesting cerebrovascular occlusion. A...
Periventricular pseudocysts (PVPC) are diagnosed in approximately 1% of premature newborns that u... more Periventricular pseudocysts (PVPC) are diagnosed in approximately 1% of premature newborns that undergo brain sonography during the first 24 h of life. These pseudocysts are thought to develop antenatally due to germinal matrix hemorrhage, but have not been described until now in prenatal ultrasound studies. The aim of this study was to report the identification, differential diagnosis, and prognosis of PVPC detected by prenatal ultrasound examination. Between 1997 and 2001 we made an ultrasound diagnosis of PVPC in 11 fetuses. In nine fetuses the findings were characteristic of PVPC and these patients represent our study group. Fetal magnetic resonance imaging was performed in five patients. Termination of pregnancy was carried out in three patients, in one case intrauterine fetal death occurred at 31 weeks, and one infant died in the neonatal period. The surviving four newborns are being followed in the pediatric neurology clinic. PVPC were diagnosed by ultrasound scan in fetuses between 16 and 37 weeks of gestation (mean, 29.7 weeks). Magnetic resonance imaging confirmed the presence of PVPC in two cases. In eight cases the pseudocysts were unilateral and in one case bilateral. They were an isolated finding in five patients. Four of these fetuses were delivered at term and have normal neurological development at ages ranging from 6 to 25 months. All fetuses with additional pathologies (coarctation of the aorta, hemimegalencephaly, cytomegalovirus infection, hypoplasia of the vermis with dysmorphism) did not survive. The prenatal diagnosis of PVPC warrants an extensive search for possible associated pathological findings. As an isolated finding, antenatal PVPC seem to carry a good prognosis.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associate... more Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
This paper presents an automatic method for the segmentation, internal classification and follow-... more This paper presents an automatic method for the segmentation, internal classification and follow-up of optic pathway gliomas (OPGs) from multi-sequence MRI datasets. Our method starts with the automatic localization of the OPG and its core with an anatomical atlas followed by a binary voxel classification with a probabilistic tissue model whose parameters are estimated from the MR images. The method effectively incorporates prior location, tissue characteristics, and intensity information for the delineation of the OPG boundaries in a consistent and repeatable manner. Internal classification of the segmented OPG volume is then obtained with a robust method that overcomes grey-level differences between learning and testing datasets. Experimental results on 25 datasets yield a mean surface distance error of 0.73 mm as compared to manual segmentation by experienced radiologists. Our method exhibits reliable performance in OPG growth follow-up MR studies, which are crucial for monitorin...
Mild fetal cerebral ventriculomegaly was the subject of one presentation that was given on the ve... more Mild fetal cerebral ventriculomegaly was the subject of one presentation that was given on the very first day of the first ISUOG congress, in 1991. It was a brand new topic then. Surprisingly enough, the terms of the problem are not very different 12 years later. The definition of the condition is unchanged (a measurement of the atrium or posterior horn of lateral ventricle of 10–15 mm in the transverse plane, or 10–12 mm according to a different view), the clinical implications virtually the same (the finding carries an increased risk of adverse outcomes, including mostly malformations, aneuploidies and neurologic sequelae). The approach has not changed and the data to counsel the couples with are pretty much the same (once malformations, aneuploidies and infections are ruled out, most of the infants do well but there remains a slight risk of a major cerebral abnormality, in the range of about 4%, and a very uncertain risk of minor disabilities). The reasons beyond this failure of progress in the knowledge about this conditions are heterogeneous. Some of them are simply practical (it is very difficult to obtain appropriate follow-up data). Some of them are biological (mild ventriculomegaly includes a very heterogenous group of both normal variants and underlying brain damage of variable etiology and entity). Although diagnostic refinement is possible by high resolution expert neurosonography and other imaging techniques such as MRI, it is unlikely that a solution to the problems posed by this finding will be possible in the near future. In a way, mild ventriculomegaly represents a turning point in the story of fetal sonography. For the first time, couples were counseled on a purely probabilistic basis that their offspring could be anything from completely normal to severely brain damaged. Tremendous uncertainties and suffering continue to be involved in the decision making process. In a way, mild fetal cerebral ventriculomegaly marked the end of an age of innocence.
Hypoxic–ischemic encephalopathy is an important cause of neuropsychological deficits. Little is k... more Hypoxic–ischemic encephalopathy is an important cause of neuropsychological deficits. Little is known about brain diffusivity in these infants following cooling and its potential in predicting outcome. Diffusion tensor imaging was applied to 3 groups: (1) three infants with hypoxic–ischemic encephalopathy: cooled; (2) three infants with hypoxic–ischemic encephalopathy: noncooled; and (3) four controls. Diffusivity values at the corticospinal tract, thalamus, and putamen were correlated with Apgar scores and early neurodevelopmental outcome. While cooled infants exhibited lower Apgar scores than noncooled infants, their developmental scores at a mean age of 8 months were higher. All groups differed in their diffusivity values with the cooled infants showing better values compared with the noncooled, correlating with early neurodevelopmental outcome. These preliminary results indicate that diffusion tensor imaging performed at an early age in infants with hypoxic–ischemic encephalopat...
MR diffusion-weighted imaging provides early demonstration of neonatal brain infarction. The evol... more MR diffusion-weighted imaging provides early demonstration of neonatal brain infarction. The evolution and limitations of diffusion-weighted imaging findings in newborns, however, have not been evaluated. Using line-scan diffusion imaging (LSDI), we investigated perinatal ischemic brain injury. Nineteen term newborns (age, 9 hours to 8 days; mean age, 2.6 days) with perinatal brain ischemia were evaluated using LSDI (1520/62.5/1 [TR/TE/excitations]) (b maximum = 750 s/mm2) and T1- and T2-weighted spin-echo (conventional) MR imaging. Follow-up examinations were performed in seven patients and autopsy in one. Apparent diffusion coefficients (ADCs) were measured in deep gray matter, white matter, the cortex, and focal lesions. Based on conventional MR imaging or pathologic findings, patients were divided into two groups. Group 1 (n = 12) had symmetric/diffuse injury consistent with global hypoperfusion. Group 2 (n = 7) had focal/multifocal injury suggesting cerebrovascular occlusion. A...
Periventricular pseudocysts (PVPC) are diagnosed in approximately 1% of premature newborns that u... more Periventricular pseudocysts (PVPC) are diagnosed in approximately 1% of premature newborns that undergo brain sonography during the first 24 h of life. These pseudocysts are thought to develop antenatally due to germinal matrix hemorrhage, but have not been described until now in prenatal ultrasound studies. The aim of this study was to report the identification, differential diagnosis, and prognosis of PVPC detected by prenatal ultrasound examination. Between 1997 and 2001 we made an ultrasound diagnosis of PVPC in 11 fetuses. In nine fetuses the findings were characteristic of PVPC and these patients represent our study group. Fetal magnetic resonance imaging was performed in five patients. Termination of pregnancy was carried out in three patients, in one case intrauterine fetal death occurred at 31 weeks, and one infant died in the neonatal period. The surviving four newborns are being followed in the pediatric neurology clinic. PVPC were diagnosed by ultrasound scan in fetuses between 16 and 37 weeks of gestation (mean, 29.7 weeks). Magnetic resonance imaging confirmed the presence of PVPC in two cases. In eight cases the pseudocysts were unilateral and in one case bilateral. They were an isolated finding in five patients. Four of these fetuses were delivered at term and have normal neurological development at ages ranging from 6 to 25 months. All fetuses with additional pathologies (coarctation of the aorta, hemimegalencephaly, cytomegalovirus infection, hypoplasia of the vermis with dysmorphism) did not survive. The prenatal diagnosis of PVPC warrants an extensive search for possible associated pathological findings. As an isolated finding, antenatal PVPC seem to carry a good prognosis.
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Papers by L. Ben-sira