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Midline defects

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https://www.readbyqxmd.com/read/28092970/surgery-of-anterior-skull-base-lesions-in-children
#1
Thomas Karl Hoffmann, Marc Oliver Scheithauer, Fabian Sommer, Jörg Lindemann, Ernst-Johannes Haberl, Ulrike Friebe-Hoffmann, Marie-Nicole Theodoraki
INTRODUCTION: Lesions affecting the anterior skull base represent a rare group of craniofacial pathologies. A tumor of the facial midline, meningitis, or rhinoliquorrhea may be indicative of malformations like dermoid cysts, gliomas, encephaloceles, or nasal fistulas. METHODS: We present a case series of 13 children (4 months to 12 years; 8 males, 5 females) with lesions involving the anterior skull base, which were treated surgically in an interdisciplinary setting...
January 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28086878/a-case-of-cranium-bifidum-with-meningocele-in-ayrshire-calf
#2
Mosiany Letura Kisipan, Caleb Oburu Orenge, David Njogu Gacheru, Raphael Muchangi Ngure
BACKGROUND: Congenital cranial bone defects predispose to herniation of meninges, sometimes with brain tissue involvement, to form a cerebrospinal fluid (CSF)-filled cyst in the head. Such defects mainly results from focal failure of neural tube closure during fetal development and has been reported in various species of domestic mammals. CASE PRESENTATION: A one week old Ayrshire calf with a fluctuant swelling on parieto-occipital region of the head was referred to the faculty...
January 13, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28045533/computational-model-of-secondary-palate-fusion-and-disruption
#3
M Shane Hutson, Maxwell C K Leung, Nancy Baker, Richard M Spencer, Thomas B Knudsen
Morphogenetic events are driven by cell-generated physical forces and complex cellular dynamics. To improve our capacity to predict developmental effects from chemical-induced cellular alterations, we built a multi-cellular agent-based model in CompuCell3D that recapitulates the cellular networks and collective cell behavior underlying growth and fusion of the mammalian secondary palate. The model incorporated multiple signaling pathways (TGFβ, BMP, FGF, EGF, SHH) in a biological framework to recapitulate morphogenetic events from palatal outgrowth through midline fusion...
January 3, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28033646/the-robo3-receptor-a-key-player-in-the-development-evolution-and-function-of-commissural-systems
#4
REVIEW
François Friocourt, Alain Chédotal
Roundabout receptors are known to mediate Slit-dependent repulsive signaling. However in vertebrates, mounting evidence suggest that Robo3 is an unconventional Robo receptor regarding both its expression and function. From its initial description, Robo3 receptor has been tightly associated with the development of specific axons, called commissural, that connect both sides of the nervous system. Many studies using transgenic mouse models showed that Robo3 expression is mandatory for commissural axon guidance to the floor plate...
December 29, 2016: Developmental Neurobiology
https://www.readbyqxmd.com/read/27974623/genetic-regulation-and-function-of-epidermal-growth-factor-receptor-signalling-in-patterning-of-the-embryonic-drosophila-brain
#5
David Jussen, Janina von Hilchen, Rolf Urbach
The specification of distinct neural cell types in central nervous system development crucially depends on positional cues conferred to neural stem cells in the neuroectoderm. Here, we investigate the regulation and function of the epidermal growth factor receptor (EGFR) signalling pathway in early development of the Drosophila brain. We find that localized EGFR signalling in the brain neuroectoderm relies on a neuromere-specific deployment of activating (Spitz, Vein) and inhibiting (Argos) ligands. Activated EGFR controls the spatially restricted expression of all dorsoventral (DV) patterning genes in a gene- and neuromere-specific manner...
December 2016: Open Biology
https://www.readbyqxmd.com/read/27928243/surgical-repair-of-a-median-cleft-of-the-upper-lip-via-a-pfeifer-incision-a-case-report
#6
Rajeev Pandey, Rajat Gupta, Nitin Bhagat, Aviral Verma
Median cleft is the midline cleft of the lip. It develops due to incomplete or failed fusion of the median nasal prominence. It can present with minimal deformities such as involvement of the vermilion border, or complex clefting of the midline structures and brain. Median clefts are broadly classified as true and false clefts. This case report describes a rare case of median cleft of the upper lip involving the white roll, which was not associated with any other deformities. Treatment included reconstruction of the philtrum and the cupid's bow while maintaining vermilion fullness and continuity, and minimizing scar formation...
March 2016: Journal of Dentistry of Tehran University of Medical Sciences
https://www.readbyqxmd.com/read/27920634/frontonasal-dysplasia-towards-an-understanding-of-molecular-and-developmental-aetiology
#7
REVIEW
Peter G Farlie, Naomi L Baker, Patrick Yap, Tiong Y Tan
The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27907266/retinal-axon-guidance-at-the-midline-chiasmatic-misrouting-and-consequences
#8
REVIEW
Delphine S Prieur, Alexandra Rebsam
The visual representation of the outside world relies on the appropriate connectivity between the eyes and the brain. Retinal ganglion cells are the sole neurons that send an axon from the retina to the brain, and thus the guidance decisions of retinal axons en route to their targets in the brain shape the neural circuitry that forms the basis of vision. Here, we focus on the choice made by retinal axons to cross or avoid the midline at the optic chiasm. This decision allows each brain hemisphere to receive inputs from both eyes corresponding to the same visual hemifield, and is thus crucial for binocular vision...
December 1, 2016: Developmental Neurobiology
https://www.readbyqxmd.com/read/27883058/role-of-ectonucleotide-pyrophosphatase-phosphodiesterase-2-in-the-midline-axis-formation-of-zebrafish
#9
Frisca Frisca, Daniel Colquhoun, Yona Goldshmit, Minna-Liisa Änkö, Alice Pébay, Jan Kaslin
Lysophosphatidic acid (LPA) is a unique bioactive lysophospholipid that induces pleiotropic effects in various cell types and organisms by acting on its specific receptors. LPA is mainly synthetised extracellularly by the ectonucleotide pyrophosphatase/phosphodiesterase 2/autotaxin (enpp2). Altered LPA signalling is associated with embryonic abnormalities, suggesting critical roles for LPA during development. However, the role of LPA signalling during early embryogenesis is not well established. We demonstrate that enpp2/LPA signalling in the early zebrafish embryo results in altered axis and midline formation, defects in left right (L-R) patterning, ciliogenesis of the Kupffer's vesicle (KV), through the modulation of cell migration during gastrulation in a lpar1-3 Rho/ROCK-dependant manner...
November 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27843654/anterior-pituitary-aplasia-in-an-infant-with-ring-chromosome-18p-deletion
#10
Edward J Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, Claudia Boucher-Berry
We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27821431/developmental-wiring-of-specific-neurons-is-regulated-by-ret-1-nogo-a-in-caenorhabditis-elegans
#11
Nanna Torpe, Steffen Nørgaard, Anette M Høye, Roger Pocock
Nogo-A is a membrane-bound protein that functions to inhibit neuronal migration, adhesion, and neurite outgrowth during development. In the mature nervous system, Nogo-A stabilizes neuronal wiring to inhibit neuronal plasticity and regeneration after injury. Here, we show that RET-1, the sole Nogo-A homolog in Caenorhabditis elegans, is required to control developmental wiring of a specific subset of neurons. In ret-1 deletion mutant animals, specific ventral nerve cord axons are misguided where they fail to respect the ventral midline boundary...
January 2017: Genetics
https://www.readbyqxmd.com/read/27785539/computed-tomography-and-upper-gastrointestinal-series-findings-of-esophageal-bronchi-in-infants
#12
Gabrielle C Colleran, Ciara E Ryan, Edward Y Lee, Brian Sweeney, David Rea, Clare Brenner
BACKGROUND: Esophageal bronchus is a rare form of communicating bronchopulmonary foregut malformation and a rare but important cause of an opaque hemithorax on chest radiography. A higher incidence of esophageal bronchus is associated with esophageal atresia, tracheo-esophageal fistula (TEF) and VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association. In the presence of these conditions, the pediatric radiologist may be the first to consider the diagnosis of esophageal bronchus or esophageal lung...
October 26, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27783142/revisiting-the-anterior-rectus-sheath-repair-for-incisional-hernia-a-10-year-experience
#13
Erica I Hodgman, Mark J Watson
BACKGROUND: Surgeons continue to seek an incisional hernia repair technique which minimizes cost and morbidity while maximizing durability. We present a single surgeon's experience with a technique described by N.L. Browse and J.P. Chevrel in 1979. METHODS: The Chevrel/Browse repair consists of a bilateral anterior rectus sheath release, hernia sac imbrication, bilateral rectus complex medialization, and repair reinforcement with an anterior prosthetic mesh. Data were collected on all patients who underwent herniorrhaphy between April 2003 and April 2013...
October 25, 2016: World Journal of Surgery
https://www.readbyqxmd.com/read/27770010/six3-dosage-mediates-the-pathogenesis-of-holoprosencephaly
#14
Xin Geng, Sandra Acosta, Oleg Lagutin, Hyea Jin Gil, Guillermo Oliver
Holoprosencephaly (HPE) is defined as the incomplete separation of the two cerebral hemispheres. The pathology of HPE is variable and, based on the severity of the defect, HPE is divided into alobar, semilobar, and lobar. Using a novel hypomorphic Six3 allele, we demonstrate in mice that variability in Six3 dosage results in different HPE phenotypes. Furthermore, we show that whereas the semilobar phenotype results from severe downregulation of Shh expression in the rostral diencephalon ventral midline, the alobar phenotype is caused by downregulation of Foxg1 expression in the anterior neural ectoderm...
December 1, 2016: Development
https://www.readbyqxmd.com/read/27766473/endoscopic-transnasal-skull-base-surgery-pushing-the-boundaries
#15
Nathan T Zwagerman, Georgios Zenonos, Stefan Lieber, Wei-Hsin Wang, Eric W Wang, Juan C Fernandez-Miranda, Carl H Snyderman, Paul A Gardner
The endoscopic endonasal approach (EEA) has significantly evolved since its initial uses in pituitary and sinonasal surgery. The literature is filled with reports and case series demonstrating efficacy and advantages for the entire ventral skull base. With competence in 'minimally invasive' parasellar approaches, larger and more complex approaches were developed to utilize the endonasal corridor to create maximally invasive endoscopic skull base procedures. The challenges of these more complex endoscopic procedures include a long learning curve and navigating in a narrow corridor; reconstruction of defects presented new challenges and early experience revealed a significantly higher risk of cerebrospinal fluid leak...
October 20, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27732850/astroglial-mediated-remodeling-of-the-interhemispheric-midline-is-required-for-the-formation-of-the-corpus-callosum
#16
Ilan Gobius, Laura Morcom, Rodrigo Suárez, Jens Bunt, Polina Bukshpun, William Reardon, William B Dobyns, John L R Rubenstein, A James Barkovich, Elliott H Sherr, Linda J Richards
The corpus callosum is the major axon tract that connects and integrates neural activity between the two cerebral hemispheres. Although ∼1:4,000 children are born with developmental absence of the corpus callosum, the primary etiology of this condition remains unknown. Here, we demonstrate that midline crossing of callosal axons is dependent upon the prior remodeling and degradation of the intervening interhemispheric fissure. This remodeling event is initiated by astroglia on either side of the interhemispheric fissure, which intercalate with one another and degrade the intervening leptomeninges...
October 11, 2016: Cell Reports
https://www.readbyqxmd.com/read/27706924/the-corticospinal-tract-evolution-development-and-human-disorders
#17
Quentin Welniarz, Isabelle Dusart, Emmanuel Roze
The corticospinal tract (CST) plays a major role in cortical control of spinal cord activity. In particular, it is the principal motor pathway for voluntary movements. Here, we discuss: (i) the anatomic evolution and development of the CST across mammalian species, focusing on its role in motor functions; (ii) the molecular mechanisms regulating corticospinal tract formation and guidance during mouse development; and (iii) human disorders associated with abnormal CST development. A comparison of CST anatomy and development across mammalian species first highlights important similarities...
October 5, 2016: Developmental Neurobiology
https://www.readbyqxmd.com/read/27698495/the-oncoprotein-brd4-nut-generates-aberrant-histone-modification-patterns
#18
Barry M Zee, Amy B Dibona, Artyom A Alekseyenko, Christopher A French, Mitzi I Kuroda
Defects in chromatin proteins frequently manifest in diseases. A striking case of a chromatin-centric disease is NUT-midline carcinoma (NMC), which is characterized by expression of NUT as a fusion partner most frequently with BRD4. ChIP-sequencing studies from NMC patients revealed that BRD4-NUT (B4N) covers large genomic regions and elevates transcription within these domains. To investigate how B4N modulates chromatin, we performed affinity purification of B4N when ectopically expressed in 293-TREx cells and quantified the associated histone posttranslational modifications (PTM) using proteomics...
2016: PloS One
https://www.readbyqxmd.com/read/27666495/implant-supported-and-magnet-retained-oral-nasal-combination-prosthesis-in-a-patient-with-a-total-rhinectomy-and-partial-maxillectomy-due-to-cancer-a-clinical-report
#19
Alexander M Won, Patti Montgomery, Ruth Aponte-Wesson, Mark Chambers
This clinical report describes the fabrication of an implant-supported and magnet-retained combination oral-nasal prosthesis for a patient with a midline midfacial defect. The patient had undergone a total rhinectomy and partial maxillectomy as part of his cancer treatment. The nasal prosthesis was retained on the face by a magnet attached to the implant-supported maxillary denture, resulting in improved appearance and the recovery of speech, mastication, and swallowing functions.
September 22, 2016: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/27659570/percutaneous-intervention-to-treat-platypnea-orthodeoxia-syndrome-the%C3%A2-toronto-experience
#20
Ashish H Shah, Mark Osten, Andrew Leventhal, Yvonne Bach, Daniel Yoo, Danny Mansour, Lee Benson, William M Wilson, Eric Horlick
OBJECTIVES: This study reviewed a series of patients treated with transcatheter closure of septal defect to treat platypnea-orthodeoxia syndrome, with specific attention to septal characteristics and device choice. BACKGROUND: Platypnea-orthodeoxia syndrome is an uncommon condition characterized by positional dyspnea and hypoxemia due to intracardiac right-to-left shunting through a patent foramen ovale (PFO), an atrial septal defect, or pulmonary arteriovenous malformations...
September 26, 2016: JACC. Cardiovascular Interventions
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