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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/28439672/altered-intra-and-interregional-synchronization-in-the-absence-of-the-corpus-callosum-a-resting-state-fmri-study
#1
Long Zuo, Shuangkun Wang, Junliang Yuan, Hua Gu, Yang Zhou, Tao Jiang
Agenesis of the corpus callosum (AgCC) can result in subtle to severe cognitive deficits. Individuals with impaired cognition often show abnormalities on resting-state functional magnetic resonance imaging (rs-fMRI). This study used rs-fMRI to investigate changes in regional homogeneity (ReHo) and functional connectivity (FC) among individuals with AgCC. AgCC individuals (n = 10) and age-, sex-, and education-matched healthy control subjects (n = 19) were included in this study. The ReHo values were calculated to represent spontaneous brain activity...
April 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28436562/anatomical-subgroup-analysis-of-the-meridian-cohort-failed-commissuration
#2
Paul D Griffiths, Karen Brackley, Michael Bradburn, Daniel Ja Connolly, Mary L Gawne-Cain, Daniel I Griffiths, Mark D Kilby, Laura Mandefield, Cara Mooney, Stephen C Robson, Brigitte Vollmer, Gerald Mason
OBJECTIVE: To assess the contribution of in utero magnetic resonance (iuMR) imaging in fetuses diagnosed with either agenesis of the corpus callosum or hypogenesis of the corpus callosum (grouped as failed commissuration) on antenatal ultrasonography (USS) from the MERIDIAN cohort. METHODS: We report a sub-group analysis of fetuses with failed commissuration diagnosed on USS (with or without ventriculomegaly) from the MERIDIAN study who had iuMR imaging within 2 weeks of USS and outcome reference data were available...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28431033/emotional-intelligence-in-agenesis-of-the-corpus-callosum
#3
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...
May 1, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28395085/partial-agenesis-and-hypoplasia-of-the-corpus-callosum-in-idiopathic-autism
#4
Jarek Wegiel, Michael Flory, Wojciech Kaczmarski, W Ted Brown, Kathryn Chadman, Thomas Wisniewski, Krzysztof Nowicki, Izabela Kuchna, Shuang Yong Ma, Jerzy Wegiel
To test the hypothesis that developmental anomalies of the corpus callosum (CC), contribute to the pathogenesis of autism, we characterized the type, topography, and severity of CC pathology corresponding to reduced CC areas that are detected by magnetic resonance imaging in the brains of 11 individuals with autism and 11 controls. In the brains of 3 autistic subjects, partial CC agenesis resulted in complete or partial lack of interhemispheric axonal connections in CC segments III-V. In these cases, a combination of focal agenesis and uniform axonal deficit caused reduction of CC areas by 37%, of axon numbers by 62%, and of the numerical density of axons by 39%...
March 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28386950/gastrointestinal-disorders-in-curry-jones-syndrome-clinical-and-molecular-insights-from-an-affected-newborn
#5
Kristen Wigby, Stephen R F Twigg, Ryan Broderick, Katherine P Davenport, Andrew O M Wilkie, Stephen W Bickler, Marilyn C Jones
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gastrointestinal and surgical findings in a baby with CJS who presented with abdominal obstruction and reviews the spectrum of gastrointestinal malformations in this rare disorder. A 41-week, 4,165 g, female presented with craniosynostosis, pre-axial polysyndactyly, and cutaneous findings consistent with a clinical diagnosis of CJS...
April 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28361097/independent-variant-analysis-of-tead1-and-ocel1-in-38-aicardi-syndrome-patients
#6
Bibiana K Y Wong, Vernon R Sutton, Richard A Lewis, Ignatia B Van den Veyver
BACKGROUND: Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#7
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
June 15, 2017: Gene
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#8
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
March 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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
#9
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
#10
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
#11
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...
April 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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, 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...
May 2017: Human Mutation
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