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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#1
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28252607/-modern-diagnostic-of-agenesis-of-the-corpus-callosum-in-children
#2
O A Milovanova, A A Alikhanov, I E Tambiev, T Yu Tarakanova
Observations of the authors regarding main MRI symptoms of agenesis of the corpus callosum (ACC) and literature review on the structure of the corpus callosum in normalcy and pathology are presented. The authors emphasize that some cases of isolated ACC has been found during routine prenatal ultrasound examination. In this regard, prenatal MRI is more effective. In 74% patients with ACC, MRI results are consistent with the results of ultrasound and CT. MRI has advantages in the differentiation of inherited corpus callosum malformation as well as concomitant CNS abnormalities...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28250454/mutations-in-dcc-cause-isolated-agenesis-of-the-corpus-callosum-with-incomplete-penetrance
#3
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone A Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E M Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B Delatycki, Jean-Louis Mandel, David J Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H Sherr, Richard J Leventer, Linda J Richards, Paul J Lockhart, Christel Depienne
Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual...
February 27, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28237026/value-of-brain-mri-when-sonography-raises-suspicion-of-agenesis-of-the-corpus-callosum-in-fetuses
#4
A Jarre, R Llorens Salvador, G Montoliu Fornas, A Montoya Filardi
OBJECTIVE: To evaluate the role of magnetic resonance imaging (MRI) in fetuses with a previous sonographic suspicion of agenesis of the corpus callosum (ACC) to confirm the diagnosis and to detect associated intracranial anomalies. MATERIAL AND METHODS: Single-center retrospective and descriptive observational study of the brain MRI performed in 78 fetuses with ACC sonographic suspicion between January 2006 and December 2015. Two experts in fetal imaging reviewed the MRI findings to evaluate the presence and morphology of the corpus callosum...
February 22, 2017: Radiología
https://www.readbyqxmd.com/read/28220087/mental-state-understanding-in-children-with-agenesis-of-the-corpus-callosum
#5
Beatrix Lábadi, Anna M Beke
Impaired social functioning is a well-known outcome of individuals with agenesis of the corpus callosum. Social deficits in nonliteral language comprehension, humor, social reasoning, and recognition of facial expression have all been documented in adults with agenesis of the corpus callosum. In the present study, we examined the emotional and mentalizing deficits that contributing to the social-cognitive development in children with isolated corpus callosum agenesia, including emotion recognition, theory of mind, executive function, working memory, and behavioral impairments as assessed by the parents...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28217666/clinical-outcomes-and-neurodevelopmental-outcome-of-prenatally-diagnosed-agenesis-of-corpus-callosum-in-single-center-of-korea
#6
Sung Eun Kim, Hye-In Jang, Kylie Hae-Jin Chang, Ji-Hee Sung, Jiwon Lee, Jeehun Lee, Suk-Joo Choi, Soo-Young Oh, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. METHODS: We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center...
January 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28214165/agenesis-of-the-corpus-callosum-and-aicardi-syndrome-a%C3%A2-neuroimaging-and-clinical-comparison
#7
T Govil-Dalela, A Kumar, R Agarwal, H T Chugani
BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females)...
March 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28210458/osseous-oral-hyaline-ring-granuloma-mimicking-a-mandible-tumor-in-a-child-with-congenital-agenesis-of-the-corpus-callosum
#8
Rodrigo Neves-Silva, Camilla-Borges Ferreira-Gomes, Natalia Palmier, Marcelo Brum-Corrêa, Oslei Paes-Almeida, Marcio Ajudarte-Lopes, Pablo Agustin-Vargas, Alan-Roger Santos-Silva
BACKGROUND: Hyaline ring granuloma (HRG) of the oral cavity is an uncommon disorder considered to be a foreign-body reaction resulting from implantation of food vegetable particles. Microscopically, it is characterized by the presence of structures of hyaline rings in an inflamed fibrous tissue background, which contains multinucleated giant cells. MATERIAL AND METHODS: We present the case of a 4-year-old boy diagnosed with a mandible osseous HRG, which showed clinical and tomographic aspects suggestive of an aggressive bone tumor...
February 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28208982/delusional-disorder-in-a-patient-with-corpus-callosum-agenesis
#9
M S Bhatia, Rashmita Saha, Nimisha Doval
Agenesis of corpus callosum is rare and associated neuropsychiatric abnormalities reported are epilepsy, Asperger's syndrome, learning problems, depression, schizophrenia, conduct disorder and conversion symptoms. Schizophrenia is the most common psychiatric disorder reported among corpus callosum agenesis. We report a rare case of delusional disorder with corpus callosum agenesis and seizure disorder. The patient presented with delusions of persecution towards younger brother and mother, disturbed sleep and reduced appetite...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28169436/vedolizumab-exposure-in-pregnancy-outcomes-from-clinical-studies-in-inflammatory-bowel-disease
#10
U Mahadevan, S Vermeire, K Lasch, B Abhyankar, F Bhayat, A Blake, M Dubinsky
BACKGROUND: Vedolizumab is a gut-selective immunoglobulin G1 monoclonal antibody to α4 β7 integrin for the treatment of Crohn's disease (CD) and ulcerative colitis (UC). Prospective clinical studies of vedolizumab in pregnancy have not been conducted; therefore, existing safety data of vedolizumab in pregnancy were examined. AIM: To assess pregnancy outcomes in females and partners of males who received vedolizumab. METHODS: All pregnancy data collected during the clinical programme (from 14 May 2007 to 27 June 2013) and in the post-marketing setting (to 19 November 2015) were analysed...
February 7, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#11
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28150392/loss-of-function-mutations-in-kif15-underlying-a-braddock-carey-genocopy
#12
Patrick M A Sleiman, Michael March, Kenny Nguyen, Lifeng Tian, Renata Pellegrino, Cuiping Hou, Walid Dridi, Mohamed Sager, Yousef H Housawi, Hakon Hakonarson
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia the Pierre-Robin sequence (PRS) and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss of function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well established cause of microcephaly. To our knowledge KIF15 is the first kinesin to be associated with congenital thrombocytopenia...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28150386/an-emerging-female-phenotype-with-loss-of-function-mutations-in-the-aristaless-related-homeodomain-transcription-factor-arx
#13
Tessa Mattiske, Ching Moey, Lisenka E Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi, Cheryl Shoubridge
The devastating clinical presentation of X-linked lissencephaly with abnormal genitalia (XLAG) is invariably caused by loss of function mutations in the Aristaless-related homeobox (ARX) gene. Mutations in this X-chromosome gene contribute to intellectual disability (ID) with co-morbidities including seizures and movement disorders such as dystonia in affected males. The detection of affected females with mutations in ARX is increasing. We present a family with multiple affected individuals, including two females...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28119304/emotional-intelligence-in-agenesis-of-the-corpus-callosum
#14
Luke B Anderson, Lynn K Paul, Warren S Brown
People with agenesis of the corpus callosum (AgCC) with normal general intelligence have deficits in complex cognitive processing, as well as in social cognition. It is uncertain the extent to which impoverished processing of emotions may contribute to social processing deficiencies. We used the Mayer-Salovey-Caruso Emotional Intelligence Test to clarify the nature of emotional intelligence in 16 adults with AgCC. As hypothesized, persons with AgCC exhibited greater disparities from norms on tests involving more socially complex aspects of emotions...
January 23, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28089768/sleep-problems-in-children-with-agenesis-of-the-corpus-callosum
#15
David G Ingram, Shervin S Churchill
BACKGROUND: Very little is known about sleep habits in children with agenesis of the corpus callosum (ACC). The purpose of this investigation was to evaluate sleep problems in children with ACC and examine the association with quality of life. METHODS: We performed a cross-sectional, anonymous, internet-based survey offered to parents of children with ACC, aged five to 18 years. The Children's Sleep Habits Questionnaire (CSHQ) and pediatric quality of life (PedsQL) were used to assess sleep habits and quality of life, respectively...
October 8, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28078790/cavum-septi-pellucidi-csp-ratio-a-marker-for-partial-agenesis-of-the-fetal-corpus-callosum
#16
K Karl, T Esser, K S Heling, R Chaoui
OBJECTIVE: While complete agenesis of the corpus callosum (CC) is often suspected on fetal ultrasound due to the absence of the cavum septi pellucidi (CSP), the suspicion of a partial agenesis (pACC) is still a challenge since the CSP is almost always present in these conditions. Aim of the study was to measure the length and width of the CSP and to calculate the ratio of the length to width as CSP-Ratio in fetuses with pACC and to compare with values from normal fetuses. PATIENTS: In a case-control study the CSP was measured in the axial plane of the fetal head in 323 normal fetuses between 20 and 34 weeks' gestation and reference ranges in relation to the biparietal diameter (BPD) were constructed...
January 12, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#17
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
March 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/27992967/role-of-fetal-mri-in-the-evaluation-of-isolated-and-non-isolated-corpus-callosum-dysgenesis-results-of-a-cross-sectional-study
#18
Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus callosum, cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated...
December 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27990482/the-world-s-youngest-cadaveric-kidney-transplant-medical-surgical-and-ethical-issues
#19
Abdallah S Daar, Nabil Mohsin Al Lawati
BACKGROUND: We report here the first successful transplant from a preterm cadaveric donor. This was performed in November 1994. The donor, who had been born at about 33 weeks of gestation, was diagnosed as having agenesis of the corpus callosum. The transplant was carried out 10 days after the donor's birth. The recipient was a 17-month-old boy with a diagnosis of Denys-Drash syndrome (WT1 mutation). METHOD: We describe and analyze the ethical, social, cultural, medical and surgical issues encountered and how these were addressed...
December 2016: Transplantation Direct
https://www.readbyqxmd.com/read/27978593/fetal-neurosonogaphy-ultrasound-and-magnetic-resonance-imaging-in-competition
#20
S Tercanli, F Prüfer
Both in routine diagnostics and detailed, highly specialized workups, major advances have been observed in many areas of ultrasound due to an increase in expertise and improved technology in recent years. This is particularly true in the case of fetal neurosonography 1 2 3 4. Malformations of the CNS together with fetal heart defects are among the most common congenital anomalies. From the embryonic phase to the late third trimester, the CNS undergoes extensive development and maturation processes. The diagnosis of CNS anomalies is therefore primarily dependent on the time at which the examination is performed and the experience of the examiner...
December 2016: Ultraschall in der Medizin
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