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Absent corpus callosum

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https://www.readbyqxmd.com/read/30105121/an-interesting-and-unique-case-of-8p23-3p23-1-deletion-and-8p23-1p11-1-interstitial-duplication-syndrome
#1
Vivek Kumar, Shuvendu Roy, Gaurav Kumar
We report an interesting case of a male toddler with global developmental delay, dysmorphic facies, seizures, and acyanotic heart disease. Detailed evaluation revealed absent corpus callosum with large doubly committed ventricular septal defect (VSD) and 8p23.3p23.1 deletion and 8p23.1p11.1 interstitial duplication syndrome. In comparison to similar reports of 8p deletion and inverted duplication syndrome, the uniqueness of this report lies in the fact that the congenital heart defect occurred without the GATA4 gene involvement, and the nervous system involvement was more extensive...
September 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29873041/g-protein-coupled-receptor-gpr17-expression-in-two-multiple-sclerosis-remyelination-models
#2
Stella Nyamoya, Patrizia Leopold, Birte Becker, Cordian Beyer, Fabian Hustadt, Christoph Schmitz, Anne Michel, Markus Kipp
In multiple sclerosis patients, demyelination is prominent in both the white and gray matter. Chronic clinical deficits are known to result from acute or chronic injury to the myelin sheath and inadequate remyelination. The underlying molecular mechanisms of remyelination and its failure remain currently unclear. Recent studies have recognized G protein-coupled receptor 17 (GPR17) as an important regulator of oligodendrocyte development and remyelination. So far, the relevance of GPR17 for myelin repair was mainly tested in remyelinating white matter lesions...
June 5, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29779901/white-matter-disruptions-in-patients-with-bipolar-disorder
#3
Lucija Abramovic, Marco P M Boks, Annabel Vreeker, Sanne Verkooijen, Annet H van Bergen, Roel A Ophoff, René S Kahn, Neeltje E M van Haren
Bipolar disorder (BD) patients show aberrant white matter microstructure compared to healthy controls but little is known about the relation with clinical characteristics. We therefore investigated the relation of white matter microstructure with the main pharmacological treatments as well its relation with IQ. Patients with BD (N = 257) and controls (N = 167) underwent diffusion tensor imaging (DTI) and comprehensive clinically assessments including IQ estimates. DTI images were analyzed using tract-based spatial statistics...
June 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#4
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#5
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29571075/elevated-body-mass-index-is-associated-with-reduced-white-matter-integrity-in-two-large-independent-cohorts
#6
Jonathan Repple, Nils Opel, Susanne Meinert, Ronny Redlich, Tim Hahn, Nils R Winter, Claas Kaehler, Daniel Emden, Ramona Leenings, Dominik Grotegerd, Dario Zaremba, Christian Bürger, Katharina Förster, Katharina Dohm, Verena Enneking, Elisabeth J Leehr, Joscha Böhnlein, Greta Karliczek, Walter Heindel, Harald Kugel, Jochen Bauer, Volker Arolt, Udo Dannlowski
Obesity has been associated with a variety of neurobiological alterations. Recent neuroimaging research has pointed to the relevance of brain structural and functional alterations in the development of obesity. However, while the role of gray matter atrophy in obesity has been evidenced in several well powered studies, large scale evidence for altered white matter integrity in obese subjects is still absent. With this study, we therefore aimed to investigate potential associations between white matter abnormalities and body mass index (BMI) in two large independent samples of healthy adults...
May 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29463858/clinical-and-genetic-spectrum-of-ampd2-related-pontocerebellar-hypoplasia-type-9
#7
Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A Berry, Guntram Borck, Katherine L Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R Lemke, Kerstin Kutsche
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding adenosine monophosphate deaminase 2; however, a homozygous AMPD2 frameshift variant has recently been reported in two family members with spastic paraplegia type 63 (SPG63)...
May 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29448957/brain-region-specific-enhancement-of-remyelination-and-prevention-of-demyelination-by-the-csf1r-kinase-inhibitor-blz945
#8
Nicolau Beckmann, Elisa Giorgetti, Anna Neuhaus, Stefan Zurbruegg, Nathalie Accart, Paul Smith, Julien Perdoux, Ludovic Perrot, Mark Nash, Sandrine Desrayaud, Peter Wipfli, Wilfried Frieauff, Derya R Shimshek
Multiple sclerosis (MS) is a chronic inflammatory disease affecting the central nervous system (CNS). While multiple effective immunomodulatory therapies for MS exist today, they lack the scope of promoting CNS repair, in particular remyelination. Microglia play a pivotal role in regulating myelination processes, and the colony-stimulating factor 1 (CSF-1) pathway is a key regulator for microglia differentiation and survival. Here, we investigated the effects of the CSF-1 receptor kinase inhibitor, BLZ945, on central myelination processes in the 5-week murine cuprizone model by non-invasive and longitudinal magnetic resonance imaging (MRI) and histology...
February 15, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29410513/a-novel-homozygous-dph1-mutation-causes-intellectual-disability-and-unique-craniofacial-features
#9
Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh, Nobuhiko Okamoto, Takeshi Mizuguchi, Mitsuko Nakashima, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto
Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c...
April 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29374355/physical-activity-mitigates-adverse-effect-of-metabolic-syndrome-on-vessels-and-brain
#10
Evan P Pasha, Alex C Birdsill, Stephanie Oleson, Andreana P Haley, Hirofumi Tanaka
Metabolic syndrome (MetS) adversely affects the vasculature and cerebral white matter (CWM) integrity. Arterial stiffening has been associated with diminished CWM integrity. Physical activity (PA) can ameliorate components of MetS and subsequently affect arterial stiffening and CWM integrity. Our aim was to determine the role of PA on mitigating the adverse influence of MetS on arterial stiffness and CWM integrity. In a cross-sectional study design, sixty-six middle-aged adults (40-62 years) composed of 18 sedentary MetS (Sed MetS), 21 physically active MetS (Active MetS), and 27 healthy individuals absent of MetS risk factors were studied...
January 26, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/29366874/novel-dcc-variants-in-congenital-mirror-movements-and-evaluation-of-disease-associated-missense-variants
#11
Tatjana Bierhals, Georg Christoph Korenke, Martina Baethmann, Laura López Marín, Martin Staudt, Kerstin Kutsche
Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated agenesis of the corpus callosum (ACC) or both. We report here the clinical phenotype and natural history of ten individuals with CMM carrying five different monoallelic DCC variants, including the missense variant p.(Trp273Arg), two duplications, one deletion and one deletion-insertion; all are novel and absent from databases...
June 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29352662/distinct-progression-patterns-of-brain-disease-in-infantile-and-juvenile-gangliosidoses-volumetric-quantitative-mri-study
#12
Igor Nestrasil, Alia Ahmed, Josephine M Utz, Kyle Rudser, Chester B Whitley, Jeanine R Jarnes-Utz
BACKGROUND: GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification of specific brain structures has not been systematically studied. OBJECTIVES: The goal of this longitudinal study has been to quantify and track brain MRI volume changes, including specific structure volume changes, at different times in disease progression of childhood gangliosidoses, and to explore quantitative brain MRI volumetry (qMRI) as a non-invasive marker of disease progression for future treatment trials...
February 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29301568/surfen-a-proteoglycan-binding-agent-reduces-inflammation-but-inhibits-remyelination-in-murine-models-of-multiple-sclerosis
#13
Jordan R Warford, Anna-Claire Lamport, Derek R Clements, Alicia Malone, Barry E Kennedy, Youra Kim, Shashi A Gujar, David W Hoskin, Alexander S Easton
Proteoglycans are promising therapeutic targets in Multiple Sclerosis (MS), because they regulate many aspects of the immune response. This was studied using surfen, an agent that binds both heparan sulphate proteoglycans (HSPGs) and chondroitin sulphate proteoglycans (CSPGs). Initial cell culture work on bone marrow derived macrophages (BMDMs) found that surfen reduced concentrations of the chemokines CCL2, CCL4 and CCL5, with reduced messenger (m)RNA expression for Tumor Necrosis Factor, IL-6, IL-1β and inducible nitric oxide synthase...
January 4, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29246610/clinical-and-molecular-characterization-of-hereditary-spastic-paraplegias-a-next-generation-sequencing-panel-approach
#14
Daniela Burguez, Márcia Polese-Bonatto, Laís Alves Jacinto Scudeiro, Ingemar Björkhem, Ludger Schöls, Laura Bannach Jardim, Ursula Matte, Maria Luiza Saraiva-Pereira, Marina Siebert, Jonas Alex Morales Saute
BACKGROUND: Molecular diagnosis of hereditary spastic paraplegias (HSP) is a difficult task due to great clinical and genetic heterogeneity. We aimed to characterize clinical and molecular findings of HSP families from Rio Grande do Sul, Brazil; and to evaluate the diagnostic yield of a next-generation sequencing (NGS) panel with twelve HSP-related genes. METHODS: A consecutive series of HSP index cases with familial recurrence of spasticity, consanguinity or thin corpus callosum (TCC) were included in this cross-sectional study...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#15
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
April 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29193663/clinical-and-genetic-characterization-of-ap4b1-associated-spg47
#16
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia type 47 (SPG47 or HSP-AP4B1), is due to bi-allelic loss-of-function mutations in the AP4B1 gene. AP4B1 is a subunit of the adapter protein complex 4 (AP-4), a heterotetrameric protein complex that regulates the transport of membrane proteins. Since 2011, 11 individuals from six families with AP4B1 mutations have been reported, nine of whom had homozygous mutations and were from consanguineous families...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29184973/variability-of-t1-weighted-signal-intensity-of-pericallosal-lipomas-in-the-fetus
#17
Lydia Chougar, Eléonore Blondiaux, Marie-Laure Moutard, Antoinette Gelot, Jean-Marie Jouannic, Hubert Ducou Le Pointe, Catherine Garel
BACKGROUND: Pericallosal lipomas are often associated with corpus callosum dysgenesis. The diagnosis of lipoma, suggested on ultrasonography, relies on the classic T1 hyperintensity on magnetic resonance imaging (MRI). However, this feature may be absent prenatally. OBJECTIVE: Our objective was to study the changes of T1 intensity in fetal lipomas with comparison to postnatal/postmortem data and to assess the factors influencing the signal variations of pericallosal lipomas on prenatal MRI...
March 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29165578/clues-for-polygenic-inheritance-of-pituitary-stalk-interruption-syndrome-from-exome-sequencing-in-20-patients
#18
Nitash Zwaveling-Soonawala, Marielle Alders, Aldo Jongejan, Lidija Kovacic, Floor A Duijkers, Saskia M Maas, Eric Fliers, A S Paul van Trotsenburg, Raoul C Hennekam
Context: Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, an interrupted/absent pituitary stalk, and an ectopic posterior pituitary lobe. Mendelian forms of PSIS are detected infrequently (<5%), and a polygenic etiology has been suggested. GLI2 variants have been reported at a relatively high frequency in PSIS. Objective: To provide further evidence for a non-Mendelian, polygenic etiology of PSIS. Methods: Exome sequencing (trio approach) in 20 patients with isolated PSIS...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29152528/x-linked-lissencephaly-with-absent-corpus-callosum-and-abnormal-genitalia-an-evolving-multisystem-syndrome-with-severe-congenital-intestinal-diarrhea-disease
#19
David Coman, Tom Fullston, Cheryl Shoubridge, Richard Leventer, Flora Wong, Simon Nazaretian, Ian Simpson, Josef Gecz, George McGillivray
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunction, hypothyroidism, and hypophosphatasia...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#20
REVIEW
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
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