22 results on '"Krajden Haratz K"'
Search Results
2. Malformation of cortical development with abnormal cortex: early ultrasound diagnosis between 14 and 24 weeks of gestation
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Krajden Haratz, K., primary, Birnbaum, R., additional, Kidron, D., additional, Har‐Toov, J., additional, Salemnick, Y., additional, Brusilov, M., additional, and Malinger, G., additional
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- 2023
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3. Termination of pregnancy due to fetal central nervous system abnormalities performed after 24 weeks’ gestation: survey of 57 fetuses from a single medical center
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Melcer, Yaakov, Maymon, R., Krajden Haratz, K., Goldrat, I., Shavit, M., Ben-Ami, I., and Vaknin, Z.
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- 2018
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4. Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
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Gafner, M., primary, Garel, C., additional, Leibovitz, Z., additional, Valence, S., additional, Krajden Haratz, K., additional, Oegema, R., additional, Mancini, G.M.S., additional, Heron, D., additional, Bueltmann, E., additional, Burglen, L., additional, Rodriguez, D., additional, Huisman, T.A.G.M., additional, Lequin, M.H., additional, Arad, A., additional, Kidron, D., additional, Muqary, M., additional, Gindes, L., additional, Lev, D., additional, Boltshauser, E., additional, and Lerman-Sagie, T., additional
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- 2023
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5. Reply
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Yaron, Y., primary and Krajden Haratz, K., additional
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- 2023
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6. Fetal neurosonography as accurate tool for diagnosis of brain involvement in tuberous sclerosis.
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Malinger, G., Prabhu, A., Maroto González, A., Brusilov, M., Kidron, D., Amster, R., Birnbaum, R., and Krajden Haratz, K.
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TUBEROUS sclerosis ,FETAL MRI ,ABORTION ,FETAL brain - Abstract
Objective: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex. Methods: This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed. Data collected included reason for referral, gestational age at which cardiac rhabdomyoma was first suspected and final number of cardiac rhabdomyomas detected on dedicated imaging. We searched for tuberous sclerosis complex‐related brain involvement, defined as the presence of one or more of the following findings: white‐matter lesions; subependymal nodules; cortical/subcortical tubers; and subependymal giant‐cell astrocytoma. Results: We included 20 patients at high risk of tuberous sclerosis complex, of whom 19 were referred for the presence of cardiac rhabdomyomas and one for a deletion in chromosome 16 involving the tuberous sclerosis complex gene locus. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27 + 2 weeks (range, 16 + 0 to 36 + 3 weeks) and the mean number of cardiac rhabdomyomas per patient was 4 (range, 1–10). Brain involvement was present in 15 fetuses, in 13 of which the disease was confirmed in one or more of the following ways: chromosomal microarray analysis (n = 1), exome sequencing (n = 7), autopsy (n = 4), clinical tuberous sclerosis complex in the newborn (n = 4) and a sibling diagnosed with clinical tuberous sclerosis complex (n = 1). In two cases, the disease could not be confirmed: one was lost to follow‐up and autopsy, following termination of pregnancy, was not performed in the other. Among the five cases without brain findings, tuberous sclerosis complex was confirmed in three by exome sequencing (n = 2) and/or autopsy findings (n = 2). The two remaining cases had normal exome sequencing; one case had five cardiac rhabdomyomas, which was a highly suggestive finding, while in the final case, the autopsy was considered normal, representing the only false‐positive case in our cohort. Conclusions: Contrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of brain involvement in fetuses at risk of tuberous sclerosis complex and should be used as the first‐line approach. Although the number of cases in which MRI was performed was small, it seems that, in the presence of ultrasound findings, the added value of MRI is low. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]
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- 2023
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7. Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies
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Yaron, Y., primary, Ofen Glassner, V., additional, Mory, A., additional, Zunz Henig, N., additional, Kurolap, A., additional, Bar Shira, A., additional, Brabbing Goldstein, D., additional, Marom, D., additional, Ben Sira, L., additional, Baris Feldman, H., additional, Malinger, G., additional, Krajden Haratz, K., additional, and Reches, A., additional
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- 2022
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8. Prenatal diagnosis of multiple intracranial arteriovenous malformations
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Krishnan, V., primary, Elayedatt, R., additional, Hausman‐Kedem, M., additional, and Krajden Haratz, K., additional
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- 2022
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9. Early second‐trimester three‐dimensional transvaginal neurosonography of fetal midbrain and hindbrain: normative data and technical aspects
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Birnbaum, R., primary, Barzilay, R., additional, Brusilov, M., additional, Acharya, P., additional, Malinger, G., additional, and Krajden Haratz, K., additional
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- 2022
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10. Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly
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Krajden Haratz, K., primary, Oliveira Szejnfeld, P., additional, Govindaswamy, M., additional, Leibovitz, Z., additional, Gindes, L., additional, Severino, M., additional, Rossi, A., additional, Paladini, D., additional, Garcia Rodriguez, R., additional, Ben‐Sira, L., additional, Borkowski Tillman, T., additional, Gupta, R., additional, Lotem, G., additional, Raz, N., additional, Hamamoto, T. E. N. K., additional, Kidron, D., additional, Arad, A., additional, Birnbaum, R., additional, Brussilov, M., additional, Pomar, L., additional, Vial, Y., additional, Leventer, R. J., additional, McGillivray, G., additional, Fink, M., additional, Krzeszowski, W., additional, Fernandes Moron, A., additional, Lev, D., additional, Tamarkin, M., additional, Shalev, J., additional, Har Toov, J., additional, Lerman‐Sagie, T., additional, and Malinger, G., additional
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- 2021
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11. Fetal MRI-Based Body and Adiposity Quantification for Small for Gestational Age Perinatal Risk Stratification.
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Rabinowich A, Avisdris N, Yehuda B, Zilberman A, Graziani T, Neeman B, Specktor-Fadida B, Link-Sourani D, Wexler Y, Herzlich J, Krajden Haratz K, Joskowicz L, Ben Sira L, Hiersch L, and Ben Bashat D
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- Humans, Female, Pregnancy, Prospective Studies, Infant, Newborn, Adult, Male, Risk Assessment, Gestational Age, Fetus diagnostic imaging, Body Composition, Prenatal Diagnosis methods, Magnetic Resonance Imaging methods, Infant, Small for Gestational Age, Adiposity, Fetal Growth Retardation diagnostic imaging
- Abstract
Background: Small for gestational age (SGA) fetuses are at risk for perinatal adverse outcomes. Fetal body composition reflects the fetal nutrition status and hold promise as potential prognostic indicator. MRI quantification of fetal anthropometrics may enhance SGA risk stratification., Hypothesis: Smaller, leaner fetuses are malnourished and will experience unfavorable outcomes., Study Type: Prospective., Population: 40 SGA fetuses, 26 (61.9%) females: 10/40 (25%) had obstetric interventions due to non-reassuring fetal status (NRFS), and 17/40 (42.5%) experienced adverse neonatal events (CANO). Participants underwent MRI between gestational ages 30 + 2 and 37 + 2., Field Strength/sequence: 3-T, True Fast Imaging with Steady State Free Precession (TruFISP) and T
1 -weighted two-point Dixon (T1 W Dixon) sequences., Assessment: Total body volume (TBV), fat signal fraction (FSF), and the fat-to-body volumes ratio (FBVR) were extracted from TruFISP and T1 W Dixon images, and computed from automatic fetal body and subcutaneous fat segmentations by deep learning. Subjects were followed until hospital discharge, and obstetric interventions and neonatal adverse events were recorded., Statistical Tests: Univariate and multivariate logistic regressions for the association between TBV, FBVR, and FSF and interventions for NRFS and CANO. Fisher's exact test was used to measure the association between sonographic FGR criteria and perinatal outcomes. Sensitivity, specificity, positive and negative predictive values, and accuracy were calculated. A P-value <0.05 was considered statistically significant., Results: FBVR (odds ratio [OR] 0.39, 95% confidence interval [CI] 0.2-0.76) and FSF (OR 0.95, CI 0.91-0.99) were linked with NRFS interventions. Furthermore, TBV (OR 0.69, CI 0.56-0.86) and FSF (OR 0.96, CI 0.93-0.99) were linked to CANO. The FBVR sensitivity/specificity for obstetric interventions was 85.7%/87.5%, and the TBV sensitivity/specificity for CANO was 82.35%/86.4%. The sonographic criteria sensitivity/specificity for obstetric interventions was 100%/33.3% and insignificant for CANO (P = 0.145)., Data Conclusion: Reduced TBV and FBVR may be associated with higher rates of obstetric interventions for NRFS and CANO., Evidence Level: 2 TECHNICAL EFFICACY: Stage 5., (© 2023 The Authors. Journal of Magnetic Resonance Imaging published by Wiley Periodicals LLC on behalf of International Society for Magnetic Resonance in Medicine.)- Published
- 2024
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12. Brain Metabolite Differences in Fetuses With Cytomegalovirus Infection: A Magnetic Resonance Spectroscopy Study.
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Sadan OR, Avisdris N, Rabinowich A, Link-Sourani D, Krajden Haratz K, Garel C, Hiersch L, Ben Sira L, and Ben Bashat D
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Background: Cytomegalovirus (CMV) is the most common intrauterine infection and may be associated with unfavorable outcomes. While some CMV-infected fetuses may show gross or subtle brain abnormalities on MRI, their clinical significance may be unclear. Conversely, normal development cannot be guaranteed in CMV-infected fetuses with normal MRI., Purpose: To assess brain metabolite differences in CMV-infected fetuses using magnetic resonance spectroscopy (MRS)., Study Type: Retrospective., Subjects: Out of a cohort of 149 cases, 44 with maternal CMV infection, amniocentesis results, and good-quality MRS were included. CMV-infected fetuses with positive polymerase chain reaction (PCR) (N = 35) were divided based on MRI results as follows: typical brain abnormalities (gross findings, N = 8), exclusive white matter hyperintense signal (WMHS) on T
2 -weighted images (subtle findings, N = 7), and normal MRI (N = 20). Uninfected fetuses (negative PCR) with normal MRI were included as controls (N = 9)., Field Strength: 3 T, T2 -weighted half Fourier single-shot turbo spin-echo (HASTE), T2 -weighted true fast imaging with steady-state free precession (TrueFISP), T1 - and T2 *-weighted fast low angle shot (FLASH), and1 H-MRS single-voxel point resolved spectroscopy (PRESS) sequences., Assessment: MRI findings were assessed by three radiologists, and metabolic ratios within the basal ganglia were calculated using LCModel., Statistical Tests: Analysis of covariance test with Bonferroni correction for multiple comparisons was used to compare metabolic ratios between groups while accounting for gestational age. A P-value <0.05 was deemed significant., Results: MRS was successfully acquired in 63% of fetuses. Substantial agreement was observed between radiologists (Fleiss' kappa [k] = 0.8). Infected fetuses with gross MRI findings exhibited significantly reduced tNAA/tCr ratios (0.64 ± 0.08) compared with infected fetuses with subtle MRI findings (0.85 ± 0.19), infected fetuses with normal MRI (0.8 ± 0.14) and controls (0.81 ± 0.15). No other significant differences were detected (P ≥ 0.261)., Conclusion: Reduced tNAA/tCr within the apparently normal brain tissue was detected in CMV-infected fetuses with gross brain abnormalities, suggesting extensive brain damage. In CMV-infected fetuses with isolated WMHS, no damage was detected by MRS., Level of Evidence: 3 TECHNICAL EFFICACY: Stage 3., (© 2024 The Author(s). Journal of Magnetic Resonance Imaging published by Wiley Periodicals LLC on behalf of International Society for Magnetic Resonance in Medicine.)- Published
- 2024
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13. Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.
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Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, and Lerman-Sagie T
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- Pregnancy, Female, Humans, Child, Retrospective Studies, Cerebellum abnormalities, Fetus, Magnetic Resonance Imaging, Multicenter Studies as Topic, Kidney Diseases, Cystic, Nervous System Malformations diagnostic imaging
- Abstract
Background and Purpose: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book Pediatric Neuroimaging from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation., Materials and Methods: This is a multicenter, international, retrospective study. We assessed the patients' medical records, prenatal ultrasounds, MR images, genetic findings, and postmortem results. We reviewed the medical literature for all studies depicting medullary malformations and evaluated cases in which a dorsal medullary protuberance was described., Results: We collected 13 patients: 3 fetuses and 10 children. The medullary caps had multiple characteristics. Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth sign, and agenesis of the corpus callosum. Systemic findings included the following: polydactyly, hallux valgus, large ears, and coarse facies. Postmortem analysis in 3 patients revealed that the cap contained either neurons or white matter tracts. We found 8 publications describing a dorsal medullary protuberance in 27 patients. The syndromic diagnosis was Joubert-Boltshauser syndrome in 11 and fibrodysplasia ossificans progressiva in 14 patients., Conclusions: This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in the clinical, imaging, and postmortem findings, we conclude that there are multiple etiologies and pathophysiology. We suggest that in some patients, the pathophysiology might be abnormal axonal guidance., (© 2023 by American Journal of Neuroradiology.)
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- 2023
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14. Myocardial Function in Fetuses with Congenital Cytomegalovirus Infection.
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Giorgione V, Krajden Haratz K, Gull I, Brusilov M, Birnbaum R, Blecher Y, Malinger G, Kaplan A, Beer G, and Kapusta L
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- Infant, Newborn, Humans, Prospective Studies, Fetal Heart diagnostic imaging, Heart Ventricles diagnostic imaging, Echocardiography methods, Cytomegalovirus Infections diagnostic imaging
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Introduction: The objective of this study was to investigate myocardial deformation of left (LV) and right ventricle (RV) using 2-dimensional speckle-tracking echocardiography (2D-STE) in fetuses with and without congenital cytomegalovirus (CMV) infection., Methods: This was a prospective single-center study. Vertical transmission was defined by a positive CMV polymerase chain reaction (PCR) test on the amniotic fluid or on the neonate's urine. Fetuses were divided into group 1 and group 2 if CMV-PCR was positive or negative, respectively. LV and RV global longitudinal strain (GLS) values were obtained and adjusted for gestational age by calculating Z-scores. Univariate analysis was carried out to compare cardiac indices between group 1 and group 2., Results: Fetuses from group 1 (n = 11) had a significantly lower LV myocardial shortening than those from group 2 (n = 32). GLS was -20.7 ± 5.2% and -26.3 ± 4.1%, respectively (p = 0.001). Similarly, GLS Z-score was lower (0.02 ± 0.72) in group 1 than in group 2 (-0.80 ± 0.59) (p = 0.001). Similarly, RV GLS Z-score was significantly impaired in group 1 compared to group 2 (-0.44 ± 1.03 vs. -1.04 ± 0.71, p = 0.041)., Conclusion: Fetuses with congenital CMV showed subclinical biventricular myocardial dysfunction. Further studies are needed to confirm the potential role of 2D-STE in identifying fetuses with congenital CMV at risk of postnatal cardiovascular morbidities., (© 2023 The Author(s). Published by S. Karger AG, Basel.)
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- 2023
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15. Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
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Kurolap A, Mory A, Simchoni S, Krajden Haratz K, Malinger G, Birnbaum R, Baris Feldman H, and Yaron Y
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- Exons, Mutation, Introns, RNA Splice Sites, Information Dissemination
- Abstract
Fetal Phenotype: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several fetal abnormalities, including enlarged kidneys with cystic dysplasia and abnormal cerebellar morphology highly suggestive of Joubert syndrome., Genetic Diagnostic Test Performed, Result, and Interpretation: Trio exome sequencing revealed compound heterozygosity for variants in the TMEM67 gene: a known pathogenic maternally inherited variant found in trans with a paternal intronic variant of unknown significance. RNA analysis revealed that the intronic variant creates a cryptic acceptor splice site in intron 12, leading to the insertion of 22 bp and causing a frameshift with a premature stop codon. This analysis enabled the reclassification of the intronic variant to likely pathogenic., Implications and Novelty: This information empowered the couple to make informed reproductive choices and opt for preimplantation genetic testing (PGT) for future pregnancies., (© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
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- 2022
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16. L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
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Accogli A, Goergen S, Izzo G, Mankad K, Krajden Haratz K, Parazzini C, Fahey M, Menzies L, Baptista J, Carpineta L, Tortora D, Fulcheri E, Gaetano Vellone V, Paladini D, Spaccini L, Toto V, Trayers C, Ben Sira L, Reches A, Malinger G, Salpietro V, De Marco P, Srour M, Zara F, Capra V, Rossi A, and Severino M
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- Humans, Magnetic Resonance Imaging, Male, Phenotype, Prenatal Diagnosis, Retrospective Studies, Brain abnormalities, Brain diagnostic imaging, Fetus abnormalities, Fetus diagnostic imaging, Nervous System Malformations diagnostic imaging, Nervous System Malformations genetics, Neural Cell Adhesion Molecule L1 genetics
- Abstract
Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was characterized by callosal anomalies, diencephalosynapsis, and a distinct brainstem malformation with diencephalic-mesencephalic junction dysplasia and brainstem kinking. Cerebellar vermis hypoplasia, aqueductal stenosis, obstructive hydrocephalus, and pontine hypoplasia were variably associated. The second pattern observed in one fetus was characterized by callosal dysgenesis, reduced white matter, and pontine hypoplasia. The identification of these features should alert clinicians to offer a prenatal L1CAM testing., (© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
- Published
- 2021
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17. A unique brain germinal matrix involvement in cytomegalovirus infected fetuses: A retrospective neurosonographic analysis with outcome correlation.
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Birnbaum R, Winsteen A, Brusilov M, Wolman I, Ben-Sira L, Malinger G, and Krajden Haratz K
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- Adult, Brain diagnostic imaging, Cytomegalovirus Infections diagnosis, Cytomegalovirus Infections diagnostic imaging, Female, Gestational Age, Humans, Infant, Newborn, Pregnancy, Retrospective Studies, Ultrasonography, Prenatal methods, Ultrasonography, Prenatal statistics & numerical data, Brain abnormalities, Cytomegalovirus pathogenicity, Cytomegalovirus Infections complications, Fetus diagnostic imaging
- Abstract
Objective: To study the clinical significance of brain germinal matrix (GM) changes in cytomegalovirus (CMV) infected fetuses., Method: This is a retrospective analysis. Group A; isolated GM finding, with or without lenticulostriatal vasculopathy (LSV). Group B; non-isolated lesion. Amniocentesis, urinalysis, postnatal US and developmental assessment, were obtained., Results: Group A and B included 18 and four fetuses, respectively. In group A, mean fetal age at diagnosis was 34.3 weeks (31-38 weeks). In 15/18 (83.3%), the lesion was bilateral and LSV was present in 8/18 (44.4%). Small cysts appeared inside the lesion in 5/18 (27.7%). MRI was normal in 8/18 (44.4%). Subtle or inconclusive findings were reported in the remaining fetuses. Brain ultrasound was normal in 10/18 (55.5%) of newborns. In the remaining, caudothalamic cyst with or without LSV, or isolated LSV were found. All newborns are developing normally at a mean follow-up age of 33.3 months (+/- 19.6 moths). In group B, all four patients requested for termination of pregnancy., Conclusion: Fetal CMV infection may cause focal GM changes, frequently accompanied by LSV, late in pregnancy. These changes may be isolated, or as part of a more generalized brain damage. When isolated, favorable prognosis is expected., (© 2021 John Wiley & Sons Ltd.)
- Published
- 2021
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18. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
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Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, and Lerman-Sagie T
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- Adult, Child, Child, Preschool, Developmental Disabilities genetics, Female, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging methods, Male, Mutation, Pregnancy, Syndrome, Fetus abnormalities, Nervous System Malformations genetics, Nervous System Malformations pathology, Tubulin genetics
- Abstract
Objective: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome., Methods: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases. We describe the pathological features of dysgyria in the two aborted fetuses., Results: The mother and son from family 1 had a history of mild developmental delay in motor and language skills and demonstrated mild cerebellar signs and mirror movements. Neuroimaging findings included: hypoplastic corpus callosum (CC), asymmetric ventriculomegaly and cerebellar vermis hypoplasia in all patients and frontal dysgyria in three. Autopsy of the fetal brain showed an unusual shape and orientation of the frontal sulci and gyri with normal cortical layering and no abnormal cell types. The mother of family 2 had congenital strabismus, mild muscle weakness on the right and a past history of developmental delay. Fetal brain MRI showed abnormal cerebral sulcation, hemispheric asymmetry, asymmetric ventriculomegaly, dysmorphic short CC and frontal cortical interdigitation. Autopsy demonstrated fronto-parietal predominant dysgyria, bilateral ventriculomegaly, hippocampal and CC hypoplasia, abnormal Sylvian fissure. Lamination and neuron morphology in the areas of dysgyria were normal., Conclusions: TUBB3 related cortical malformations can be mild, consistent with dysgyria rather than typical pachygyria or polymicrogyria. The autopsy findings in fetal TUBB3 related dysgyria are abnormal orientation of sulci and gyri, but normal neuron morphology and layering. We suggest that TUBB3 - associated brain malformations can be suspected in-utero which in turn can aid in prognostic counselling and interpretation of genetic testing., Competing Interests: Declaration of competing interest None., (Copyright © 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2020
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19. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
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Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, and Lerman-Sagie T
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- Brain pathology, Consanguinity, Dystroglycans deficiency, Female, Frameshift Mutation, Homozygote, Humans, Magnetic Resonance Imaging methods, Male, Phenotype, Pregnancy, Tomography, X-Ray Computed, Ultrasonography, Prenatal, Brain diagnostic imaging, Dystroglycans genetics, Walker-Warburg Syndrome diagnostic imaging, Walker-Warburg Syndrome genetics
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Objectives: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family., Methods: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation., Results: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)., Conclusions: The novel association of cobblestone malformation with tectocerebellar dysraphia as part of WWS is characteristic of the homozygous c.743C > del frameshift mutation in the DAG1 gene., (Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2018
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20. Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.
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Krajden Haratz K, Peled A, Weizman B, Gindes L, Tamarkin M, Lev D, Kidron D, Ben-Sira L, Malinger G, Lerman-Sagie T, and Leibovitz Z
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- Abortion, Induced, Adult, Age Factors, Autopsy, Central Nervous System Vascular Malformations pathology, Cerebral Veins abnormalities, Cerebral Veins pathology, Child Development, Female, Gestational Age, Humans, Infant, Predictive Value of Tests, Pregnancy, Prognosis, Reproducibility of Results, Central Nervous System Vascular Malformations diagnostic imaging, Cerebral Veins diagnostic imaging, Magnetic Resonance Imaging, Parenchymal Tissue diagnostic imaging, Ultrasonography, Doppler, Transcranial, Ultrasonography, Prenatal methods
- Abstract
Objective: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA)., Methods: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed., Results: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal., Conclusions: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis., (© 2017 S. Karger AG, Basel.)
- Published
- 2018
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21. The 'Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis.
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Krajden Haratz K, Leibovitz Z, Svirsky R, Drummond CL, Lev D, Gindes L, Lerman-Sagie T, and Malinger G
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- Case-Control Studies, Fetal Development, Gestational Age, Humans, Retrospective Studies, Skull diagnostic imaging, Skull embryology, Brain diagnostic imaging, Craniosynostoses diagnostic imaging, Ultrasonography, Prenatal
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Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis., Subjects and Methods: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings., Results: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations., Discussion: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted., (© 2016 S. Karger AG, Basel.)
- Published
- 2016
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22. Candida glabrata Chorioamnionitis following in vitro Fertilization: Review of the Literature.
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Ganer Herman H, Mevorach Zussman N, Krajden Haratz K, Bar J, and Sagiv R
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- Candidiasis epidemiology, Chorioamnionitis epidemiology, Female, Humans, Pregnancy, Pregnancy Complications, Infectious epidemiology, Prevalence, Candida glabrata isolation & purification, Candidiasis microbiology, Chorioamnionitis microbiology, Fertilization in Vitro adverse effects, Pregnancy Complications, Infectious microbiology
- Abstract
Aim: To review all past reports of Candida glabrata chorioamnionitis in the literature while noting their correlation with in vitro fertilization (IVF)., Methods: We checked MEDLINE, PubMed and Google scholar (January 1970 to December 2014) for articles using the search terms 'Candida', 'Torulopsis', 'glabrata', 'chorioamnionitis', 'congenital', 'perinatal' and 'infection'. Case reports were included if they described a verified intrauterine infection with C. glabrata. The authors reviewed the articles and abstracted the data. 20 cases were compared, including a case reported from our institution shortly described in this article., Results: 13 of 20 cases (65%) involved pregnancies achieved by IVF; 3 patients underwent amniocentesis during their pregnancy. Of the 7 cases with no history of IVF, 2 involved a history of cerclage and 2 a history of intrauterine device use. Only 6 infants survived, delivered prematurely by cesarean section., Conclusions: Review of literature demonstrated a high prevalence of IVF-assisted pregnancies among the few C. glabrata chorioamnionitis cases previously described, typically occurring during the second trimester. Additional cases were notable for additional instrumentation/invasive procedure. The prognosis was mostly grim, entailing a high incidence of stillbirth or rapid neonatal death., (© 2015 S. Karger AG, Basel.)
- Published
- 2015
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