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Midline defects

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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 are 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...
February 6, 2017: Biology Open
https://www.readbyqxmd.com/read/28163065/a-standardized-method-to-measure-brain-shifts-with-decompressive-hemicraniectomy
#7
Askiel Bruno, Abdurrehman Zahran, Nina Paletta, Laith Maali, Fenwick T Nichols, Ramon Figueroa
BACKGROUND: A standardized, reliable, and practical method for measuring decompressive hemicraniectomy (DHC) defects and brain shifts in malignant middle cerebral artery (MCA) territory infarction is needed for reliable comparisons between computed tomography (CT) scans. Such a method could facilitate further studies on the effects of DHC. NEW METHOD: We describe and apply a method for measuring DHC defects and brain shifts on CT scans in 25 patients with malignant MCA territory infarction...
February 2, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28160402/genetic-advances-in-craniosynostosis
#8
Wanda Lattanzi, Marta Barba, Lorena Di Pietro, Simeon A Boyadjiev
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28153601/quantitative-assessment-of-tension-reduction-at-the-midline-closure-during-abdominal-components-separation
#9
Ahmed M Afifi, Emily Hartman, Ahmed Talaat, Ashraf Abo Alfotooh, Omar S Omar, Sayed Mareei, Ruston Sanchez, Steve J Kempton
BACKGROUND: Abdominal component separation is commonly utilized for the closure of midline abdominal wounds. The value of each step in reducing tension has not been studied. Our aim is to test if component separation decreases tension in the midline closure and quantify the value of each procedural step. STUDY DESIGN: Tension required to bring the rectus muscle to midline was measured using tensiometry after subcutaneous dissection (Step 1), external oblique muscle release (Step 2), separation of the internal and external oblique muscles (Step 3), and internal oblique muscle release (Step 4)...
January 31, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28150029/a-uk-questionnaire-survey-of-current-techniques-used-to-perform-pelvic-organ-prolapse-repair
#10
Emily Fairclough, Jenny Myers, Anthony Ross Broadhurst Smith, Suzanne Breeman, Fiona Reid
INTRODUCTION AND HYPOTHESIS: Evidence-based medicine should result in better standardisation of practice. This study aims to evaluate whether there remains variation in surgical techniques in native tissue and graft/mesh repairs of pelvic organ prolapse (POP) in UK practice. METHODS: A questionnaire survey was conducted to describe current surgical techniques for native tissue and graft/mesh POP repairs performed by a cohort of UK surgeons recruiting to a large multicentre prolapse trial (PROSPECT)...
February 1, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28133560/endoscopic-resection-of-skull-base-teratoma-in-klippel-feil-syndrome-through-use-of-combined-ultrasonic-and-bipolar-diathermy-platforms
#11
Justin A Edward, Alkis J Psaltis, Ryan A Williams, Gregory W Charville, Robert L Dodd, Jayakar V Nayak
Klippel-Feil syndrome (KFS) is associated with numerous craniofacial abnormalities but rarely with skull base tumor formation. We report an unusual and dramatic case of a symptomatic, mature skull base teratoma in an adult patient with KFS, with extension through the basisphenoid to obstruct the nasopharynx. This benign lesion was associated with midline palatal and cerebral defects, most notably pituitary and vertebrobasilar arteriolar duplications. A multidisciplinary workup and a complete endoscopic, transnasal surgical approach between otolaryngology and neurosurgery were undertaken...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28104139/a-renal-paratransplant-hernia-causing-complete-small-bowel-obstruction-a-case-report-and-review-of-the-literature
#12
T Zingg, H Teixeira Farinha, N Demartines, M Pascual, M Matter
A rare type of acquired internal hernia, the renal paratransplant hernia (RPTH), of which only 11 cases have been reported in the literature so far, can follow renal transplantation. We report a patient who presented with acute abdominal pain and vomiting 6 weeks after renal transplantation in the right iliac fossa. A noncontrast abdominal computed tomography scan showed signs of small bowel obstruction. The patient was taken to the operating room for a midline laparotomy, and RPTH with incarcerated small bowel was diagnosed...
January 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28100586/axon-termination-pruning-and-synaptogenesis-in-the-giant-fiber-system-of-drosophila-melanogaster-is-promoted-by-highwire
#13
Melissa Borgen, Kimberly Rowland, Jana Boerner, Brandon Lloyd, Aruna Khan, Rod Murphey
The ubiquitin ligase Highwire has a conserved role in synapse formation. Here we show that Highwire coordinates several facets of central synapse formation in the Drosophila melanogaster giant fiber system, including axon termination, axon pruning, and synaptic function. Despite the similarities to the fly neuromuscular junction, the role of Highwire and the underlying signaling pathways are distinct in the fly's giant fiber system. During development, branching of the giant fiber presynaptic terminal occurs and, normally, the transient branches are pruned away...
January 18, 2017: Genetics
https://www.readbyqxmd.com/read/28092970/surgery-of-anterior-skull-base-lesions-in-children
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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