The Experts below are selected from a list of 111 Experts worldwide ranked by ideXlab platform

Mariangela Rustico - One of the best experts on this subject based on the ideXlab platform.

  • Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging
    Neuroradiology, 2016
    Co-Authors: Andrea Righini, Claudia Cesaretti, Giorgio Conte, Francesca Inverardi, Giana Izzo, Gaetano Bulfamante, Laura Avagliano, Cecilia Parazzini, Carolina Frassoni, Mariangela Rustico
    Abstract:

    Introduction Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Methods Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Results Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar Tooth Malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Conclusions Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.

  • Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging
    Neuroradiology, 2016
    Co-Authors: Andrea Righini, Claudia Cesaretti, Giorgio Conte, Francesca Inverardi, Giana Izzo, Gaetano Bulfamante, Laura Avagliano, Cecilia Parazzini, Carolina Frassoni, Mariangela Rustico
    Abstract:

    INTRODUCTION: Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. METHODS: Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. RESULTS: Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar Tooth Malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. CONCLUSIONS: Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies

Andrea Righini - One of the best experts on this subject based on the ideXlab platform.

  • Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging
    Neuroradiology, 2016
    Co-Authors: Andrea Righini, Claudia Cesaretti, Giorgio Conte, Francesca Inverardi, Giana Izzo, Gaetano Bulfamante, Laura Avagliano, Cecilia Parazzini, Carolina Frassoni, Mariangela Rustico
    Abstract:

    Introduction Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Methods Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Results Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar Tooth Malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Conclusions Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.

  • Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging
    Neuroradiology, 2016
    Co-Authors: Andrea Righini, Claudia Cesaretti, Giorgio Conte, Francesca Inverardi, Giana Izzo, Gaetano Bulfamante, Laura Avagliano, Cecilia Parazzini, Carolina Frassoni, Mariangela Rustico
    Abstract:

    INTRODUCTION: Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. METHODS: Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. RESULTS: Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar Tooth Malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. CONCLUSIONS: Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies

Maria Nassika - One of the best experts on this subject based on the ideXlab platform.

  • A cross-sectional analysis of the prevalence of Tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients
    Progress in Orthodontics, 2017
    Co-Authors: Dimitrios Konstantonis, Alexandros Alexandropoulos, Nikoleta Konstantoni, Maria Nassika
    Abstract:

    The aim of this study was to investigate the prevalence of Tooth agenesis, microdontia, and Tooth Malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were Tooth agenesis, microdontia, dental Malformations, and cleft types. The statistics included chi-square and Fisher’s exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with Tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented Tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of Tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that Tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

  • A cross-sectional analysis of the prevalence of Tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients
    Progress in Orthodontics, 2017
    Co-Authors: Dimitrios Konstantonis, Alexandros Alexandropoulos, Nikoleta Konstantoni, Maria Nassika
    Abstract:

    Background The aim of this study was to investigate the prevalence of Tooth agenesis, microdontia, and Tooth Malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Methods Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were Tooth agenesis, microdontia, dental Malformations, and cleft types. The statistics included chi-square and Fisher’s exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Results Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with Tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented Tooth agenesis was associated with the side of the cleft. Conclusions Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of Tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that Tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

Wangui Manguyu - One of the best experts on this subject based on the ideXlab platform.

  • Joubert's syndrome and related disorders and home-based peritoneal dialysis in East Africa: a case report.
    BMC Research Notes, 2017
    Co-Authors: Grace M. Musiime, Doris M. W. Kinuthia, Donald P. Oyatsi, Wangui Manguyu
    Abstract:

    Joubert’s syndrome is a rare condition affecting an estimated 1:80,000–1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar Tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert’s syndrome and related disorders. To date, there are no cases of Joubert’s syndrome and related disorders from sub-Saharan Africa described in the literature. An 8 year old black Kenyan female child was diagnosed in Joubert’s syndrome in her first year of life. She was noted to have dysmorphic facies and hypotonia in the neonatal period and cranial MRI showed dysplasia of the cerebellar vermis and typical molar Tooth Malformation. She was subsequently lost to follow up for several years and later presented with anaemia. Further investigation revealed bilateral multicystic kidneys and significant renal impairment consistent with a diagnosis of end stage renal failure and polycystic kidney disease. She underwent home peritoneal dialysis for 7 months. Joubert’s syndrome and related disorders is a rare condition. This case report demonstrates that home peritoneal dialysis is feasible in a low resource setting. Although it is scarcely provided in African countries, it is an effective renal replacement strategy for patients with end stage renal disease.

  • Joubert’s syndrome and related disorders and home-based peritoneal dialysis in East Africa: a case report
    BMC Research Notes, 2017
    Co-Authors: Grace M. Musiime, Doris M. W. Kinuthia, Donald P. Oyatsi, Wangui Manguyu
    Abstract:

    Background Joubert’s syndrome is a rare condition affecting an estimated 1:80,000–1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar Tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert’s syndrome and related disorders. To date, there are no cases of Joubert’s syndrome and related disorders from sub-Saharan Africa described in the literature. Case presentation An 8 year old black Kenyan female child was diagnosed in Joubert’s syndrome in her first year of life. She was noted to have dysmorphic facies and hypotonia in the neonatal period and cranial MRI showed dysplasia of the cerebellar vermis and typical molar Tooth Malformation. She was subsequently lost to follow up for several years and later presented with anaemia. Further investigation revealed bilateral multicystic kidneys and significant renal impairment consistent with a diagnosis of end stage renal failure and polycystic kidney disease. She underwent home peritoneal dialysis for 7 months. Conclusions Joubert’s syndrome and related disorders is a rare condition. This case report demonstrates that home peritoneal dialysis is feasible in a low resource setting. Although it is scarcely provided in African countries, it is an effective renal replacement strategy for patients with end stage renal disease.

Claudia Cesaretti - One of the best experts on this subject based on the ideXlab platform.

  • Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging
    Neuroradiology, 2016
    Co-Authors: Andrea Righini, Claudia Cesaretti, Giorgio Conte, Francesca Inverardi, Giana Izzo, Gaetano Bulfamante, Laura Avagliano, Cecilia Parazzini, Carolina Frassoni, Mariangela Rustico
    Abstract:

    Introduction Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. Methods Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. Results Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar Tooth Malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. Conclusions Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies.

  • Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging
    Neuroradiology, 2016
    Co-Authors: Andrea Righini, Claudia Cesaretti, Giorgio Conte, Francesca Inverardi, Giana Izzo, Gaetano Bulfamante, Laura Avagliano, Cecilia Parazzini, Carolina Frassoni, Mariangela Rustico
    Abstract:

    INTRODUCTION: Ganglionic eminence (GE) is a transient fetal brain structure that harvests a significant amount of precursors of cortical GABA-ergic interneurons. Prenatal magnetic resonance (MR) imaging features of GE anomalies (i.e., cavitations) have already been reported associated with severe micro-lissencephaly. The purpose of this report was to illustrate the MR imaging features of GE anomalies in conditions other than severe micro-lissencephalies. METHODS: Among all the fetuses submitted to prenatal MR imaging at our center from 2005 to 2014, we collected eight cases with GE anomalies and only limited associated brain anomalies. The median gestational age at the time of MR imaging was 21 weeks ranging from 19 to 29 weeks. Two senior pediatric neuroradiologists categorized the anomalies of the GE region in two groups: group one showing cavitation in the GE region and group two showing enlarged GE region. For each fetal case, associated cranial anomalies were also reported. RESULTS: Five out of the eight cases were included in group one and three in group two. Besides the GE region abnormality, all eight cases had additional intracranial anomalies, such as mild partial callosal agenesis, vermian hypoplasia and rotation, cerebellar hypoplasia, ventriculomegaly, enlarged subarachnoid spaces, molar Tooth Malformation. Ultrasound generally detected most of the associated intracranial anomalies, prompting the MR investigation; on the contrary in none of the cases, GE anomalies had been detected by ultrasound. CONCLUSIONS: Our observation expands the spectrum of human GE anomalies, demonstrating that these may take place also without associated severe micro-lissencephalies