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https://www.readbyqxmd.com/read/28445456/floor-plate-derived-netrin-1-is-dispensable-for-commissural-axon-guidance
#1
Chloé Dominici, Juan Antonio Moreno-Bravo, Sergi Roig Puiggros, Quentin Rappeneau, Nicolas Rama, Pauline Vieugue, Agns Bernet, Patrick Mehlen, Alain Chédotal
Netrin-1 is an evolutionarily conserved, secreted extracellular matrix protein involved in axon guidance at the central nervous system midline. Netrin-1 is expressed by cells localized at the central nervous system midline, such as those of the floor plate in vertebrate embryos. Growth cone turning assays and three-dimensional gel diffusion assays have shown that netrin-1 can attract commissural axons. Loss-of-function experiments further demonstrated that commissural axon extension to the midline is severely impaired in the absence of netrin-1 (refs 3, 7, 8, 9)...
April 26, 2017: Nature
https://www.readbyqxmd.com/read/28441416/ethanol-itself-is-a-holoprosencephaly-inducing-teratogen
#2
Mingi Hong, Robert S Krauss
Ethanol is a teratogen, inducing a variety of structural defects in developing humans and animals that are exposed in utero. Mechanisms of ethanol teratogenicity in specific defects are not well understood. Oxidative metabolism of ethanol by alcohol dehydrogenase or cytochrome P450 2E1 has been implicated in some of ethanol's teratogenic effects, either via production of acetaldehyde or competitive inhibition of retinoic acid synthesis. Generalized oxidative stress in response to ethanol may also play a role in its teratogenicity...
2017: PloS One
https://www.readbyqxmd.com/read/28434863/spatiotemporally-controlled-mechanical-cues-drive-progenitor-mesenchymal-to-epithelial-transition-enabling-proper-heart-formation-and-function
#3
Timothy R Jackson, Hye Young Kim, Uma L Balakrishnan, Carsten Stuckenholz, Lance A Davidson
During early cardiogenesis, bilateral fields of mesenchymal heart progenitor cells (HPCs) move from the anterior lateral plate mesoderm to the ventral midline, undergoing a mesenchymal-to-epithelial transition (MET) en route to forming a single epithelial sheet. Through tracking of tissue-level deformations in the heart-forming region (HFR) as well as movement trajectories and traction generation of individual HPCs, we find that the onset of MET correlates with a peak in mechanical stress within the HFR and changes in HPC migratory behaviors...
April 17, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28428262/uncoupling-neurogenic-gene-networks-in-the-drosophila-embryo
#4
William A Rogers, Yogesh Goyal, Kei Yamaya, Stanislav Y Shvartsman, Michael S Levine
The EGF signaling pathway specifies neuronal identities in the Drosophila embryo by regulating developmental patterning genes such as intermediate neurons defective (ind). EGFR is activated in the ventral midline and neurogenic ectoderm by the Spitz ligand, which is processed by the Rhomboid protease. CRISPR/Cas9 was used to delete defined rhomboid enhancers mediating expression at each site of Spitz processing. Surprisingly, the neurogenic ectoderm, not the ventral midline, was found to be the dominant source of EGF patterning activity...
April 20, 2017: Genes & Development
https://www.readbyqxmd.com/read/28426098/targeting-chromatin-defects-in-selected-solid-tumors-based-on-oncogene-addiction-synthetic-lethality-and-epigenetic-antagonism
#5
D Morel, G Almouzni, J-C Soria, S Postel-Vinay
Background: Although the role of epigenetic abnormalities has been studied for several years in cancer genesis and development, epigenetic-targeting drugs have historically failed to demonstrate efficacy in solid malignancies. However, successful targeting of chromatin remodeling deficiencies, histone writers and histone reader alterations has been achieved very recently using biomarker-driven and mechanism-based approaches. Epigenetic targeting is now one of the most active areas in drug development and could represent novel therapeutic opportunity for up to 25% of all solid tumors...
February 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28396956/laparoscopic-versus-open-incisional-hernia-repair-a-retrospective-cohort-study-with-costs-analysis-on-269-patients
#6
G Soliani, A De Troia, M Portinari, S Targa, P Carcoforo, G Vasquez, P M Fisichella, C V Feo
PURPOSE: To compare clinical outcomes and institutional costs of elective laparoscopic and open incisional hernia mesh repairs and to identify independent predictors of prolonged operative time and hospital length of stay (LOS). METHODS: Retrospective observational cohort study on 269 consecutive patients who underwent elective incisional hernia mesh repair, laparoscopic group (N = 94) and open group (N = 175), between May 2004 and July 2014. RESULTS: Operative time was shorter in the laparoscopic versus open group (p < 0...
April 10, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28373000/abdominoplasty-in-prune-belly-syndrome-modifications-in-monfort-technique-to-address-variable-patterns-of-abdominal-wall-weakness
#7
Edwin A Smith, Arun Srinivasan, Hal C Scherz, Anthony J Tracey, Bruce Broecker, Andrew J Kirsch
INTRODUCTION: Abdominoplasty is an important component of the management of children with prune belly syndrome (PBS). While there are features of the abdominal defect in PBS which are common to all patients, there will be differences unique to each patient that should be taken into consideration in surgical planning. Specifically, we have come to realize that although the Monfort procedure assumes a symmetric pattern of abdominal wall laxity, this symmetry is rarely present. OBJECTIVE: The aim of this report is to describe our modifications and review our outcomes for the Monfort procedure which more completely address correction of the abdominal wall laxity including both common and uncommon features while positioning the umbilicus to a more anatomically correct position (Figure)...
March 22, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28366790/should-we-consider-the-hemi-tip-as-a-proper-aesthetic-subunit-in-a-nasal-reconstruction
#8
W Noel, J B Duron, S Jabbour, K Rem, B Bertrand, J Quilichini, M Revol, S Mazouz Dorval
BACKGROUND: Defects involving several aesthetic subunits (ASUs) or lying at the junction of an ASU are challenging and require a complex reconstruction. This study aimed to describe the hemi-tip as a new ASU. MATERIAL AND METHODS: We conducted a retrospective study including patients who underwent a nasal reconstruction for lower nasal pyramid defects according to our modified ASU principle. Patients who suffered from a subtotal alar defect, which also involved <50% of the tip, were reconstructed after excising the remaining tissue of the hemi-tip subunit...
February 27, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28344916/pentalogy-of-cantrell-is-echocardiography-sufficient-in-the-neonatal-period
#9
Elke Zani-Ruttenstock, Augusto Zani, Osami Honjo, Priscilla Chiu
Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28344182/repair-of-frontoethmoidal-encephalocele-in-the-philippines-an-account-of-30-cases-between-2008-2013
#10
Amanda-Lynn Marshall, Pradeep Setty, Mark Hnatiuk, Daniel R Pieper
BACKGROUND: Frontoethmoidal encephalocele is a congenital abnormality of the anterior skull base involving herniation of cranial contents through a midline skull defect. Patency of the foramen cecum, along with other multifactorial variables, contribute to the development of frontoethmoidal encephaloceles. Due to limited resources, financial constraints, and lack of surgical expertise, repair of frontoethmoidal encephaloceles are limited in developing countries. METHODS: Between 2008-2013 an interdisciplinary team composed of neurosurgeons, craniofacial surgeons, otolaryngologists, plastic surgeons and nursing personnel, conducted surgical mission trips to Davao City in Mindanao, Philippines...
March 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28293508/repair-of-large-abdominal-wall-defects-using-total-anterior-aponeurotic-flap-anatomical-feasibility-study-and-comparison-with-ramirez-s-technique
#11
Wojciech Staszewicz, Michela Assalino, Philippe Morel, Jean H D Fasel, Bojan V Stimec, Mickael Tobalem
In this cadaveric study, we explored the feasibility of a maximal mobilization of the superficial abdominal fascia, in a continuous flap, to achieve a tension-free covering of midline defects. The aponeurosis of the external oblique muscle was incised along the anterior axillary line and then detached up to the anterior rectus sheath. The latter was opened between the external and the internal oblique aponeurosis while keeping the continuity with the external oblique fascia. The obtained flap was solid and uninterrupted...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28271155/not-gastroschisis-or-omphalocele-or-anything-in-between-a-novel-congenital-abdominal-wall-defect
#12
Maija Cheung, Nasser Kakembo, Arlene Muzira, John Sekabira, Doruk Ozgediz
Congenital abdominal wall defects occur when normal embryonic development is interrupted and most commonly results in gastroschisis or omphalocele. Other entities, such as ruptured omphalocele, vanishing gastroschisis, and patent omphalomesenteric ducts with prolapse, have also been described and can create a confusing picture. This case of a newborn with a midline abdominal defect and a mass that was intestine-like and arose from the bowel cannot be classified, and no similar reports were found. This suggests a previously undescribed abdominal wall defect with an aberrant colonic appendage...
March 7, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28260150/importance-of-multidisciplinary-management-for-pulmonary-atresia-ventricular-septal-defect-major-aorto-pulmonary-collateral-arteries-and-completely-absent-central-pulmonary-arteries
#13
Takaya Hoashi, Satoshi Yazaki, Koji Kagisaki, Masataka Kitano, Masatoshi Shimada, Isao Shiraishi, Hajime Ichikawa
BACKGROUND: To review long-term clinical outcomes for pulmonary atresia, ventricular septal defect (PA/VSD), major aorto-pulmonary collateral arteries (MAPCAs) and completely absent central pulmonary arteries (cPAs). METHODS: Of all 120 surgically treated patients with PA/VSD, MAPCAs between 1981 and 2011, 15 patients (12.5%) with completely absent cPAs were enrolled. The median age at initial surgery was 3.8 ± 4.9 years old (range 0.1-17.6) and 3.5 (2-6)...
March 4, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28255006/folate-receptor-alpha-is-necessary-for-neural-plate-cell-apical-constriction-during-xenopus-neural-tube-formation
#14
Olga A Balashova, Olesya Visina, Laura N Borodinsky
Folate supplementation prevents up to 70% of neural tube defects (NTDs), which result from a failure of neural tube closure during embryogenesis. The elucidation of the mechanisms underlying folate action has been challenging. This study introduces Xenopus laevis as a model to determine the cellular and molecular mechanisms involved in folate action during neural tube formation. We show that knockdown of folate receptor-α (FRα) impairs neural tube formation and leads to NTDs. FRα knockdown in neural plate cells only is necessary and sufficient to induce NTDs...
March 2, 2017: Development
https://www.readbyqxmd.com/read/28220837/a-novel-role-of-the-organizer-gene-goosecoid-as-an-inhibitor-of-wnt-pcp-mediated-convergent-extension-in-xenopus-and-mouse
#15
Bärbel Ulmer, Melanie Tingler, Sabrina Kurz, Markus Maerker, Philipp Andre, Dina Mönch, Marina Campione, Kirsten Deißler, Mark Lewandoski, Thomas Thumberger, Axel Schweickert, Abraham Fainsod, Herbert Steinbeißer, Martin Blum
Goosecoid (Gsc) expression marks the primary embryonic organizer in vertebrates and beyond. While functions have been assigned during later embryogenesis, the role of Gsc in the organizer has remained enigmatic. Using conditional gain-of-function approaches in Xenopus and mouse to maintain Gsc expression in the organizer and along the axial midline, neural tube closure defects (NTDs) arose and dorsal extension was compromised. Both phenotypes represent convergent extension (CE) defects, arising from impaired Wnt/planar cell polarity (PCP) signaling...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216816/awkward-defects-around-the-elbow-the-radial-recurrent-artery-flap-revisited
#16
Maksud M Devale, Rohit P Munot, Chirag A Bhansali, Neeraj D Bhaban
BACKGROUND: Soft tissue defects on the posterior aspect of the elbow are commonly seen in patients treated with internal fixation for fractures around the elbow joint. An axial flap based on the radial recurrent artery (RRA) is very useful for such defects, especially if a posterior midline arm incision has been taken for skeletal fixation. The aim of this study is to describe the usefulness of RRA flap (based on the RRA) in the management of such defects. MATERIALS AND METHODS: We present a retrospective analysis of 4 cases managed with the RRA flap for soft tissue reconstruction of defects around the elbow joint at our institute from January 2015 to August 2016...
September 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
https://www.readbyqxmd.com/read/28208931/pseudo-exstrophy-of-bladder-with-unilateral-renal-agenesis-a-rare-combination-of-two-anomalies
#17
Abdolhamid Amouei, Mohammad Baghi Yazdi, Fatemeh Ehsani, Mojtaba Babaei Zarch
Pseudo-exstrophy of bladder is an uncommon condition characterized by the major musculoskeletal defects without urinary system defects. A two-day-old female neonate was presented with pseudo-exstrophy of the bladder and unilateral renal agenesis- A rare combination of two anomalies. She was born at 37 weeks gestational age with caesarean section delivery. The X-ray of hip revealed pubic diastasis. Ultrasonography clearly showed absence of the left kidney with a normal right kidney. The patient was treated successfully with proper surgical management...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203309/a-recurrent-case-of-pentalogy-of-cantrell-a-rare-case-with-sonological-findings-and-review-of-literature
#18
Srinivas M Naren Satya, Kamala Retnam Mayilvaganan, Ivvala Sai Prathyusha, Munnangi Satya Gautam, Deepthi Raidu, V N Amogh
BACKGROUND: Pentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool and is indispensible in the diagnosis of POC. Despite the rarity of POC, it is imperative for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Most reported cases in literature till now have been sporadic. In this paper, we aimed to report for the first time in literature, a recurrent case of POC detected in the first trimester in a mother whose previous pregnancy also was terminated in the second trimester medically due to the ultrasound diagnosis of POC...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28194520/simple-and-safe-technique-for-closure-of-midline-abdominal-wound-dehiscence
#19
M H Abo-Ryia
PURPOSE: The aim of this study was to assess an alternative technique for closure of burst abdomen. METHOD: After reduction of the viscera and toilet of abdominal cavity with debridement of any necrotic tissues in the skin or fascia, the skin was undermined to expose the aponeurosis all-around the defect edges for at least 5-6 cm. The greater omentum is spread in the floor of the wound and fixed to the inner side of the defect. A piece of polypropylene mesh designed according to the size and shape of the defect and sutured to its external edge continuously...
February 13, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28167492/disruption-of-pdgfra-alters-endocardial-and-myocardial-fusion-during-zebrafish-cardiac-assembly
#20
Suzan El-Rass, Shahram Eisa-Beygi, Edbert Khong, Koroboshka Brand-Arzamendi, Antonio Mauro, Haibo Zhang, Karl J Clark, Stephen C Ekker, Xiao-Yan Wen
Cardiac development in vertebrates is a finely tuned process regulated by a set of conserved signaling pathways. Perturbations of these processes are often associated with congenital cardiac malformations. Platelet-derived growth factor receptor α (PDGFRα) is a highly conserved tyrosine kinase receptor, which is essential for development and organogenesis. Disruption of Pdgfrα function in murine models is embryonic lethal due to severe cardiovascular defects, suggesting a role in cardiac development, thus necessitating the use of alternative models to explore its precise function...
March 15, 2017: Biology Open
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