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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/29025168/-a-model-explaining-infantile-esotropia-dissociated-strabismus-as-a-result-of-sensory-interhemispheric-dissociation-and-crossed-dominance-in-the-brainstem
#1
Marcel Paulus Ten Tusscher
Over 150 million years, modern reptiles, birds and mammals evolved. Predatory birds and mammals have eyes on the front of their heads. In these animals, binocular correspondence, voluntary eye movements, eye-hand coordination, partial decussation at the optic chiasm and cortical interhemispheric pathways could develop at the cost of a smaller visual field. The subsequent enlargement of the cerebral neocortex and the hemispheric pathways are of central importance in binocular vision, sensory fusion and infantile strabismus...
October 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29017365/is-the-presence-of-corpus-callosum-predictable-in-the-first-trimester
#2
Hakan Kalaycı, Ebru Tarım, Halis Özdemir, Tayfun Çok, Ayşe Parlakgümüş
Corpus callosum agenesis (CCA) is a clinical condition accompanied by various aneuploidy and genetic syndromes. We identified the development of the corpus callosum (CC) in 278 patients before 18 weeks of gestational age by visualising the pericallosal artery (PCA) in the callosal sulcus and changes in the lengths and ratios of the midbrain (MB) and falx (F), which suggested elevation of the third ventricle and thalamus due to CCA in the first trimester. We succeeded in visualising the path of the PCA in 273 patients...
October 10, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28947381/outcome-of-isolated-agenesis-of-the-corpus-callosum-a-population-based-prospective-study
#3
Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie-Pierre Cordier, Pascal Gaucherand, Jérôme Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot, François Rivier, Audrey Lacalm, Amélie Clément, Dorothée Ville, Laurent Guibaud
OBJECTIVES: Neurodevelopmental outcome of apparently isolated agenesis of the corpus callosum (ACC) remains a major concern with uncertain prognosis. Despite "normal" IQ reported in a majority of patients, the rates of learning disabilities and severe outcome (ranging from 0% to 20%) are not clearly established. METHODS: A large population-based series was investigated based on a longitudinal follow-up until school age, using Wechsler Intelligence scales at 3, 5, and 7 years...
September 5, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28946151/the-incidence-of-chromosomal-aberrations-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#4
Anna Marlene Rüland, Karl-Philipp Gloning, Matthias Albig, Karl-Oliver Kagan, Rüdiger Hammer, Michael Schälike, Christoph Berg, Ulrich Gembruch, Annegret Geipel
Purpose To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. Materials & Methods This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. Results Complete ACC was diagnosed in 343 cases...
September 25, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#5
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28893526/neural-correlates-of-working-memory-in-children-and-adolescents-with-agenesis-of-the-corpus-callosum-an-fmri-study
#6
V Siffredi, M M Spencer-Smith, P Barrouillet, M J Vaessen, R J Leventer, V Anderson, P Vuilleumier
The ability to temporarily maintain relevant information in mind in the presence of interference or distracting information, also called working memory (WM), is critical for higher cognitive functions and cognitive development. In typically developing (TD) children, WM is underpinned by a fronto-parietal network of interacting left and right brain regions. Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation...
September 9, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28828134/prenatal-and-postnatal-evaluation-of-polymicrogyria-with-band-heterotopia
#7
Usha D Nagaraj, Robert Hopkin, Mark Schapiro, Beth Kline-Fath
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings...
September 2017: Radiology case reports
https://www.readbyqxmd.com/read/28825856/the-use-of-variant-maps-to-explore-domain-specific-mutations-of-fgfr1
#8
L A Lansdon, H V Bernabe, N Nidey, J Standley, M J Schnieders, J C Murray
Here we describe the genotype-phenotype correlations of diseases caused by variants in Fibroblast Growth Factor Receptor 1 ( FGFR1) and report a novel, de novo variant in FGFR1 in an individual with multiple congenital anomalies. The proband presented with bilateral cleft lip and palate, malformed auricles, and bilateral ectrodactyly of his hands and feet at birth. He was later diagnosed with diabetes insipidus, spastic quadriplegia, developmental delay, agenesis of the corpus callosum, and enlargement of the third cerebral ventricle...
October 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#9
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815864/interstitial-deletion-5p14-1-p15-2-and-5q14-3-q23-2-in-a-patient-with-clubfoot-blepharophimosis-arthrogryposis-and-multiple-congenital-abnormalities
#10
Burhan Balta, Murat Erdogan, Ayse B Ergul, Yavuz Sahin, Alper Ozcan
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#11
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28761539/extensive-intracranial-calcification-of-pseudo-torch-syndrome-with-features-of-dandy-walker-malformation
#12
Ashis Patnaik, Sudhansu Sekhar Mishra, Srikanta Das
Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS)...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28742278/agenesis-of-the-corpus-callosum-developmental-delay-autism-spectrum-disorder-facial-dysmorphism-and-posterior-polymorphous-corneal-dystrophy-associated-with-zeb1-gene-deletion
#13
Ayeshah Chaudhry, Brian H Chung, Dimitri J Stavropoulos, Marcela P Araya, Asim Ali, Elise Heon, David Chitayat
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) on fetal ultrasound and MRI. On postnatal follow-up she was noted to have developmental delay, facial dysmorphism, autism spectrum disorder, and posterior polymorphous corneal dystrophy (PPD). Array-comparative genomic hybridization analysis (Array-CGH) showed a 2.05 Mb de novo interstitial deletion at 10p11.23p11.22. The deleted region overlaps 1 OMIM Morbid Map gene, ZEB1 (the zinc finger E-box binding homeobox transcription factor 1), previously associated with posterior polymorphous corneal dystrophy type 3 (PPCD3)...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#14
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28718234/paediatrics-brain-imaging-in-epilepsy-common-presenting-symptoms-and-spectrum-of-abnormalities-detected-on-mri
#15
Azmat Ali, Faiza Akram, Ghayyur Khan, Shaukat Hussain
BACKGROUND: Epilepsy, a common neurological disorder can present at any age and has a number of aetiologies with underlying brain disease being the most common aetiology. Brain imaging becomes important and mandatory in the work up for epilepsy in localization and lateralization of the seizure focus. METHODS: This cross-sectional study was conducted in the department of Radiology Ayub Medical Teaching Institution Abbottabad from 1st March 2015 to 31st March 2016...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28697375/interhemispheric-cortical-connections-and-time-perception-a-case-study-with-agenesis-of-the-corpus-callosum
#16
Miku Okajima, Akinori Futamura, Motoyasu Honma, Mitsuru Kawamura, Yuko Yotsumoto
In daily life, we sometimes select temporal cues of one sort while suppressing others. This study investigated the mechanism of suppression by examining a split-brain patient's perception of target intervals while ignoring distractor intervals. A patient with agenesis of corpus callosum and five age- and sex-matched control subjects participated in reproduction of target intervals while ignoring distractors displayed in the visual field either ipsilateral or contralateral to target. In the patient, the distractor interfered with reproduction performance more strongly when contralateral rather than ipsilateral...
July 8, 2017: Brain and Cognition
https://www.readbyqxmd.com/read/28696035/lin-gettig-syndrome-craniosynostosis-expands-the-spectrum-of-the-kat6b-related-disorders
#17
Rani A Bashir, Abhijit Dixit, Caitlin Goedhart, Jillian S Parboosingh, Allan M Innes, Patrick Ferreira, Shabih U Hasan, Ping-Yee B Au
We report two patients with sagittal craniosynostosis, hypoplastic male genitalia, agenesis of the corpus callosum, thyroid abnormalities, and dysmorphic features which include short palpebral fissures and retrognathia. The clinical presentation of both patients was initially thought to be suggestive of Lin-Gettig syndrome (LGS), a multiple malformation syndrome associated with craniosynostosis that was initially reported in two brothers in 1990, with a third patient reported in 2003. Our first patient was subsequently found through exome sequencing to have a de novo mutation in KAT6B, c...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28695822/arid1b-haploinsufficient-mice-reveal-neuropsychiatric-phenotypes-and-reversible-causes-of-growth-impairment
#18
Cemre Celen, Jen-Chieh Chuang, Xin Luo, Nadine Nijem, Angela K Walker, Fei Chen, Shuyuan Zhang, Andrew S Chung, Liem H Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A Bok, Meriel McEntagart, Evelien F Gevers, Shari G Birnbaum, Amelia J Eisch, Craig M Powell, Woo-Ping Ge, Gijs We Santen, Maria Chahrour, Hao Zhu
Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28641168/aicardi-syndrome-and-cognitive-abilities-a-report-of-five-cases
#19
Mia Tuft, Ylva Østby, Karl O Nakken, Caroline Lund
Aicardi syndrome is a rare neurodevelopmental disorder with agenesis of corpus callosum, chorioretinal lacunae, and infantile spasms as the main features. The outcome is in general severe, with poor cognitive development and difficult-to-treat epilepsy. In this study, we assessed the level of cognitive function of five girls with Aicardi syndrome, using normed population based tests and questionnaires. Their cognitive abilities varied from mild to profound intellectual disabilities. The more severe the epilepsy, the poorer were the cognitive skills...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28640803/brain-network-eigenmodes-provide-a-robust-and-compact-representation-of-the-structural-connectome-in-health-and-disease
#20
Maxwell B Wang, Julia P Owen, Pratik Mukherjee, Ashish Raj
Recent research has demonstrated the use of the structural connectome as a powerful tool to characterize the network architecture of the brain and potentially generate biomarkers for neurologic and psychiatric disorders. In particular, the anatomic embedding of the edges of the cerebral graph have been postulated to elucidate the relative importance of white matter tracts to the overall network connectivity, explaining the varying effects of localized white matter pathology on cognition and behavior. Here, we demonstrate the use of a linear diffusion model to quantify the impact of these perturbations on brain connectivity...
June 2017: PLoS Computational Biology
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