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https://www.readbyqxmd.com/read/27907266/retinal-axon-guidance-at-the-midline-chiasmatic-misrouting-and-consequences
#1
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
#2
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
#3
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
#4
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...
November 7, 2016: Genetics
https://www.readbyqxmd.com/read/27785539/computed-tomography-and-upper-gastrointestinal-series-findings-of-esophageal-bronchi-in-infants
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27634489/hughes-abdominal-repair-trial-hart-abdominal-wall-closure-techniques-to-reduce-the-incidence-of-incisional-hernias-study-protocol-for-a-randomised-controlled-trial
#14
J Cornish, R L Harries, D Bosanquet, B Rees, J Ansell, N Frewer, P K Dhruva Rao, C Parry, R Ellis-Owen, S M Phillips, C Morris, J Horwood, M L Davies, M M Davies, R Hargest, Z Davies, J Hilton, D Harris, A Ben-Sassi, R Rajagopal, D Hanratty, S Islam, A Watkins, N Bashir, S Jones, I R Russell, J Torkington
BACKGROUND: Incisional hernias are common complications of midline closure following abdominal surgery and cause significant morbidity, impaired quality of life and increased health care costs. The 'Hughes Repair' combines a standard mass closure with a series of horizontal and two vertical mattress sutures within a single suture. This theoretically distributes the load along the incision length as well as across it. There is evidence to suggest that this technique is as effective as mesh repair for the operative management of incisional hernias; however, no trials have compared the Hughes Repair with standard mass closure for the prevention of incisional hernia formation following a midline incision...
September 15, 2016: Trials
https://www.readbyqxmd.com/read/27630904/the-earliest-presenting-umbilical-port-site-hernia-following-laparoscopic-cholecystectomy-a-case-report
#15
Rajeev Sharma, Deeksha Mehta, Manav Goyal, Sanjay Gupta
Port site hernia after laparoscopic surgery is a rare complication. Here we present a case of a 55-year-old female, diagnosed with an anterior abdominal wall hernia through the 10mm umbilical port, just two days after her laparoscopic cholecystectomy. The uniqueness of this case is its extremely early presentation. Patient presented with features of acute intestinal obstruction and due to prompt diagnosis and timely intervention, she underwent a successful reduction of hernia and an anatomical repair of the fascial and peritoneal defect through the midline laparotomy incision...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27622859/sensitivity-of-first-trimester-ultrasound-in-the-detection-of-congenital-anomalies-in-twin-pregnancies-population-study-and-systematic-review
#16
Francesco D'Antonio, Alessandra Familiari, Basky Thilaganathan, Aris T Papageorghiou, Lamberto Manzoli, Asma Khalil, Amar Bhide
INTRODUCTION: The first aim of this study was to ascertain the diagnostic performance of first-trimester ultrasound in detecting congenital anomalies in twins. The secondary aim was to explore the strength of association between different pregnancy characteristics and early detection of structural anomalies in a large unselected population of twin pregnancies. A systematic review of the published literature was also carried out. MATERIAL AND METHODS: Retrospective analysis of prospectively collected data from consecutive twin pregnancies booked for antenatal care between 1996 and 2014...
September 13, 2016: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/27622417/neonatal-head-ultrasound-systematic-approach-to-congenital-central-nervous-system-anomalies-a-pictorial-essay
#17
Hye-Kyung Yoon, Seong Whi Cho
Brain ultrasound is widely used for the screening of prematurely born babies. Although the best imaging modality for the central nervous system anomaly is brain MRI, the first imaging study in the post-natal period is brain ultrasonography in most cases. Anomalies could be found incidentally on screening ultrasound, or in those cases already suspected on prenatal ultrasound. In order not to miss congenital structural abnormalities of the brain on screening ultrasound, systematic approaches would be very helpful...
September 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27621858/a-comparison-of-balloon-angioplasty-of-native-coarctation-versus-surgical-repair-for-short-segment-coarctation-associated-with-ventricular-septal-defect-a-single-center-retrospective-review-of-92-cases
#18
Huifeng Zhang, Ming Ye, Gang Chen, Fang Liu, Lin Wu, Bing Jia
BACKGROUND: The hybrid technique combining balloon angioplasty for discrete coarctation (CoA) and surgical repair of a ventricular septal defect (VSD) is a novel treatment for patients with aortic CoA and VSD, but the efficacy of this approach is unknown. METHODS: We performed a retrospective analysis of 92 patients with short segment CoA and VSD who underwent complete repair between January 2004 and July 2014 in our center. Patients were divided into two groups according to the surgical approach employed: hybrid procedure (group A, n=39) and traditional midline surgical repair (group B, n=53)...
August 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27617049/giant-atretic-occipital-lipoencephalocele-in-an-adult-with-bony-outgrowth
#19
Kshama Nimkar, Dinesh Sood, Pawan Soni, Narvir Chauhan, Mukesh Surya
BACKGROUND: We present unique case of a giant extracranial atretic occipital lipoencephalocele in an adult patient with new bone formation within it which was not associated with any developmental malformation of brain. Resection of the lipoencephalocele was performed for esthetic reasons. CASE REPORT: 18 year old female patient presented to the surgery OPD with complains of a large mass in the occipital region present since birth. It was of size of a betel nut at the time of birth and gradually increased in size over a long period of time...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27579237/extended-v-y-advancement-flap-reconstruction-of-a-large-posterior-upper-midline-trunk-defect
#20
Eugene Y Fukudome, Deepak R Bharadia, Douglas L Helm, Indranil Sinha
Large posterior upper trunk defects can be challenging to reconstruct. Trapezius or latissimus dorsi myocutaneous flaps are principally utilized for reconstruction; however, some defects may not be amenable to this standard approach. Here, we describe a patient with a full-thickness skin and subcutaneous tissue loss of the upper back and inferior cervical region after dermatofibrosarcoma protuberans resection. A large, extended V-Y flap was used for closure of this wound secondary to its location, size, and orientation...
May 2016: Plastic and Reconstructive Surgery. Global Open
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