The Experts below are selected from a list of 285 Experts worldwide ranked by ideXlab platform
Irina Strok - One of the best experts on this subject based on the ideXlab platform.
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p18 09 3d thick slice rendering of suspected Uterine Malformation obviates the use of saline infusion sonohysterography to establish the diagnosis
Ultrasound in Obstetrics & Gynecology, 2006Co-Authors: Ana Monteagudo, Ilan E Timortritsch, Irina StrokAbstract:Objective: To test the hypothesis, that the unenhanced 3D ‘thick slice’ rendering (TSR) of the uterus in cases of suspected Uterine anomalies is sufficient to make a clinical diagnosis without the need for saline infusion sonohysterography (SIS). Methods: We performed 3D ultrasound (3DUS) of 28 patients who consecutively presented to our lab with the indication of suspected Uterine anomalies or which at time of a 2 dimensional ultrasound (2DUS) performed for a different indication appeared to have a Uterine Malformation. The Voluson 730 Expert system (GE-Kretztechnik) was used to scan all patients. If needed or if the referring MD asked specifically for a SIS, that was performed as a second step after the unenhanced volume was obtained. The 3D volumes were first analyzed using the 3D TSR mode at the time of the acquisition and/or offline using the 4D-View laptop software of the same company. The 3D volumes containing the information provided by the SIS were examined afterwards. The coronal plane of the uterus (fundus, cavity and cervix) was sought. Results: Four of the 28 patients had no Uterine anomaly. The rest of the 24 patients had a range of Uterine anomalies. In all cases the unenhanced volume, using the TSR was able to yield the shape of the fundus, the cavity and the cervical needed to establish the diagnosis. The TSR showed a better image on the coronal plane when the patient was in the late secretory phase, enhancing the ‘natural contrast’ of the hyperechoic endometrium. Conclusion: 3D TSR as a first line modality is simple and is sufficient to enable the analysis of uteri suspected of Malformations without the need of saline infusion sonohysterography, especially if the patient is in the secretory phase of the cycle.
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P18.09: 3D ‘thick slice’ rendering of suspected Uterine Malformation obviates the use of saline infusion sonohysterography to establish the diagnosis
Ultrasound in Obstetrics and Gynecology, 2006Co-Authors: Ana Monteagudo, Ilan E. Timor-tritsch, Irina StrokAbstract:Objective: To test the hypothesis, that the unenhanced 3D ‘thick slice’ rendering (TSR) of the uterus in cases of suspected Uterine anomalies is sufficient to make a clinical diagnosis without the need for saline infusion sonohysterography (SIS). Methods: We performed 3D ultrasound (3DUS) of 28 patients who consecutively presented to our lab with the indication of suspected Uterine anomalies or which at time of a 2 dimensional ultrasound (2DUS) performed for a different indication appeared to have a Uterine Malformation. The Voluson 730 Expert system (GE-Kretztechnik) was used to scan all patients. If needed or if the referring MD asked specifically for a SIS, that was performed as a second step after the unenhanced volume was obtained. The 3D volumes were first analyzed using the 3D TSR mode at the time of the acquisition and/or offline using the 4D-View laptop software of the same company. The 3D volumes containing the information provided by the SIS were examined afterwards. The coronal plane of the uterus (fundus, cavity and cervix) was sought. Results: Four of the 28 patients had no Uterine anomaly. The rest of the 24 patients had a range of Uterine anomalies. In all cases the unenhanced volume, using the TSR was able to yield the shape of the fundus, the cavity and the cervical needed to establish the diagnosis. The TSR showed a better image on the coronal plane when the patient was in the late secretory phase, enhancing the ‘natural contrast’ of the hyperechoic endometrium. Conclusion: 3D TSR as a first line modality is simple and is sufficient to enable the analysis of uteri suspected of Malformations without the need of saline infusion sonohysterography, especially if the patient is in the secretory phase of the cycle.
Laurent Pasquier - One of the best experts on this subject based on the ideXlab platform.
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GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome
Clinical Genetics, 2020Co-Authors: Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jerôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux-boucher, Christèle Dubourg, Véronique David, Laurent PasquierAbstract:Congenital Uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of Uterine and kidney Malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper Uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or Uterine Malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance.
Ana Monteagudo - One of the best experts on this subject based on the ideXlab platform.
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p18 09 3d thick slice rendering of suspected Uterine Malformation obviates the use of saline infusion sonohysterography to establish the diagnosis
Ultrasound in Obstetrics & Gynecology, 2006Co-Authors: Ana Monteagudo, Ilan E Timortritsch, Irina StrokAbstract:Objective: To test the hypothesis, that the unenhanced 3D ‘thick slice’ rendering (TSR) of the uterus in cases of suspected Uterine anomalies is sufficient to make a clinical diagnosis without the need for saline infusion sonohysterography (SIS). Methods: We performed 3D ultrasound (3DUS) of 28 patients who consecutively presented to our lab with the indication of suspected Uterine anomalies or which at time of a 2 dimensional ultrasound (2DUS) performed for a different indication appeared to have a Uterine Malformation. The Voluson 730 Expert system (GE-Kretztechnik) was used to scan all patients. If needed or if the referring MD asked specifically for a SIS, that was performed as a second step after the unenhanced volume was obtained. The 3D volumes were first analyzed using the 3D TSR mode at the time of the acquisition and/or offline using the 4D-View laptop software of the same company. The 3D volumes containing the information provided by the SIS were examined afterwards. The coronal plane of the uterus (fundus, cavity and cervix) was sought. Results: Four of the 28 patients had no Uterine anomaly. The rest of the 24 patients had a range of Uterine anomalies. In all cases the unenhanced volume, using the TSR was able to yield the shape of the fundus, the cavity and the cervical needed to establish the diagnosis. The TSR showed a better image on the coronal plane when the patient was in the late secretory phase, enhancing the ‘natural contrast’ of the hyperechoic endometrium. Conclusion: 3D TSR as a first line modality is simple and is sufficient to enable the analysis of uteri suspected of Malformations without the need of saline infusion sonohysterography, especially if the patient is in the secretory phase of the cycle.
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P18.09: 3D ‘thick slice’ rendering of suspected Uterine Malformation obviates the use of saline infusion sonohysterography to establish the diagnosis
Ultrasound in Obstetrics and Gynecology, 2006Co-Authors: Ana Monteagudo, Ilan E. Timor-tritsch, Irina StrokAbstract:Objective: To test the hypothesis, that the unenhanced 3D ‘thick slice’ rendering (TSR) of the uterus in cases of suspected Uterine anomalies is sufficient to make a clinical diagnosis without the need for saline infusion sonohysterography (SIS). Methods: We performed 3D ultrasound (3DUS) of 28 patients who consecutively presented to our lab with the indication of suspected Uterine anomalies or which at time of a 2 dimensional ultrasound (2DUS) performed for a different indication appeared to have a Uterine Malformation. The Voluson 730 Expert system (GE-Kretztechnik) was used to scan all patients. If needed or if the referring MD asked specifically for a SIS, that was performed as a second step after the unenhanced volume was obtained. The 3D volumes were first analyzed using the 3D TSR mode at the time of the acquisition and/or offline using the 4D-View laptop software of the same company. The 3D volumes containing the information provided by the SIS were examined afterwards. The coronal plane of the uterus (fundus, cavity and cervix) was sought. Results: Four of the 28 patients had no Uterine anomaly. The rest of the 24 patients had a range of Uterine anomalies. In all cases the unenhanced volume, using the TSR was able to yield the shape of the fundus, the cavity and the cervical needed to establish the diagnosis. The TSR showed a better image on the coronal plane when the patient was in the late secretory phase, enhancing the ‘natural contrast’ of the hyperechoic endometrium. Conclusion: 3D TSR as a first line modality is simple and is sufficient to enable the analysis of uteri suspected of Malformations without the need of saline infusion sonohysterography, especially if the patient is in the secretory phase of the cycle.
Adeline Jacquinet - One of the best experts on this subject based on the ideXlab platform.
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GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome
Clinical Genetics, 2020Co-Authors: Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jerôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux-boucher, Christèle Dubourg, Véronique David, Laurent PasquierAbstract:Congenital Uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of Uterine and kidney Malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper Uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or Uterine Malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance.
Bouchra Boujemla - One of the best experts on this subject based on the ideXlab platform.
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GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome
Clinical Genetics, 2020Co-Authors: Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jerôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux-boucher, Christèle Dubourg, Véronique David, Laurent PasquierAbstract:Congenital Uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of Uterine and kidney Malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper Uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or Uterine Malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance.
