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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#1
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...
August 16, 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
#2
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
#3
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
#4
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
#5
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)...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#6
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
#7
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
#8
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
#9
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...
July 11, 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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#13
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28624465/muscle-pathology-in-vici-syndrome-a-case-study-with-a-novel-mutation-in-epg5-and-a-summary-of-the-literature
#14
Carola Hedberg-Oldfors, Niklas Darin, Anders Oldfors
Vici syndrome is a disorder characterized by myopathy, cardiomyopathy, agenesis of the corpus callosum, immunodeficiency, cataracts, hypopigmentation, microcephaly, gross developmental delay and failure to thrive. It is caused by mutations in EPG5, which encodes a protein involved in the autophagy pathway. Although myopathy is part of the syndrome, few publications have described the muscle pathology. We present a detailed morphological analysis in a boy with Vici syndrome due to a novel homozygous one-base deletion in EPG5 (c...
May 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28622125/early-onset-shapiro-syndrome-variant-treated-with-pizotifen-a-case-report
#15
Laura Denegri, Giulia Prato, Maria Margherita Mancardi, Cristina Schiaffino, Pasquale Striano, Maria Giuseppina Baglietto
Shapiro Syndrome is a rare entity defined by the triad of recurrent spontaneous hypothermia, hyperhidrosis, and agenesis of the corpus callosum. Fewer than 100 cases have been reported so far and there are only few cases without a complete agenesis of corpus callosum ("Shapiro Syndrome Variant"). In this article, we report the clinical, electroencephalographic, and neuroimaging data of a patient with early-onset Shapiro Syndrome Variant. The case study describes a 4-year-old patient with episodes characterized by generalized hyperhidrosis, hypotonia, impaired consciousness, and hypothermia with onset before the first year of age...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28615637/defects-in-autophagosome-lysosome-fusion-underlie-vici-syndrome-a-neurodevelopmental-disorder-with-multisystem-involvement
#16
Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigmentation. Mutations in EPG5, a gene that encodes a key autophagy regulator, have been shown to cause VICIS, however, the precise pathomechanism underlying VICIS is yet to be clarified. Here, we describe detailed clinical (including brain MRI and muscle biopsy) and genetic features of nine Japanese patients with VICIS...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28562508/biallelic-pms2-mutation-and-heterozygous-dicer1-mutation-presenting-as-constitutional-mismatch-repair-deficiency-with-corpus-callosum-agenesis-case-report-and-review-of-literature
#17
Cletus Cheyuo, Walid Radwan, Janice Ahn, Kymberly Gyure, Rabia Qaiser, Patrick Tomboc
Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus...
May 29, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28553390/a-neonate-with-x-linked-lissencephaly-with-ambiguous-genitalia
#18
Priyanka Minocha, Anita Choudhary, Shambhavi, Sadasivan Sitaraman
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28509324/three-dimensional-neurosonography-a-novel-field-in-fetal-medicine
#19
Michał Lipa, Ritsuko Kimata Pooh, Mirosław Wielgoś
Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28499675/growth-and-psychological-development-in-postoperative-patients-with-anterior-encephaloceles
#20
Hemonta Kumar Dutta, Chow Wachana Khangkeo, Kaberi Baruah, Debasish Borbora
PURPOSE: Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair. MATERIALS & METHODS: Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects...
February 8, 2017: Pediatric Neurology
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