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Midline defects

Xin Geng, Sandra Acosta, Oleg Lagutin, HyeaJin 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 that variability in Six3 dosage results in different HPE phenotypes. Furthermore, we also show that while 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...
October 21, 2016: Development
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
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
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
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
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
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
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
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
Francesco D'Antonio, Alessandra Familiari, Basky Thilaganathan, Aris T Papageorghiou, Lamberto Manzoli, Asma Khalil, Amar Bhide
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 from 1996 till 2014...
September 13, 2016: Acta Obstetricia et Gynecologica Scandinavica
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
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
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
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
Nergis Nina Suleiman, Lars Johan Marcus Sandberg
Symptomatic heterotopic ossification of abdominal surgical incisions is a rare occurrence. We present a 67-year-old man with severe discomfort caused by heterotopic ossification extending from the xiphoid to the umbilicus. The patient underwent an abdominal aortic aneurysm repair 3 years before our treatment. A 13 × 3.5 cm ossified lesion was excised. The resulting midline defect was closed using component separation and inlay Strattice. Tension-free midline adaptation of the recti muscles was achieved...
July 2016: Plastic and Reconstructive Surgery. Global Open
Thomas H Reid, Amy Tam, Georgia Antoniou, Juling Ong
Wormian bones are independent ossification centers found within cranial sutures or fontanelles. Though common in adult populations, their presence in children can be associated with several conditions such as osteogenesis imperfecta, hypothyroidism, pyknodysostosis, cleidocranial dysostosis, rickets, and acrocallosal syndrome. These conditions encompass a large range of clinical features but there has only been 1 other reported patient of exomphalos occurring concurrently with these ossicles. The authors present the case of a child with an anterior fontanellar Wormian bone, dysmorphic facial features, and exomphalos major born to unaffected parents...
October 2016: Journal of Craniofacial Surgery
Nilanjan Dutta, Rajarshi Ghosh, Neeraj Awasthy, Sumir Girotra, Sitaraman Radhakrishnan, Savitri Shrivastava, Parvathi Unninayar Iyer, Krishna Subramony Iyer
OBJECTIVES: Strategies for the optimal surgical management of coarctation of aorta with associated intracardiac defects continue to be debated upon. We describe a previously unreported surgical technique for the management of this combination of defects and present our early results. METHODS: Thirty-one patients (median age: 73 days and median weight: 3.9 kg) underwent repair of coarctation of aorta with associated cardiac defects, in a single-stage, through a midline sternotomy...
July 26, 2016: European Journal of Cardio-thoracic Surgery
Moji Aghajani, Olivier F Colins, Eduard T Klapwijk, Ilya M Veer, Henrik Andershed, Arne Popma, Nic J van der Wee, Robert R J M Vermeiren
Psychopathy is a serious psychiatric phenomenon characterized by a pathological constellation of affective (e.g., callous, unemotional), interpersonal (e.g., manipulative, egocentric), and behavioral (e.g., impulsive, irresponsible) personality traits. Though amygdala subregional defects are suggested in psychopathy, the functionality and connectivity of different amygdala subnuclei is typically disregarded in neurocircuit-level analyses of psychopathic personality. Hence, little is known of how amygdala subregional networks may contribute to psychopathy and its underlying trait assemblies in severely antisocial people...
November 2016: Human Brain Mapping
Dong-Hyun Lee, Kyoung-Tae Kim, Jeong-Ill Park, Ki-Su Park, Dae-Chul Cho, Joo-Kyung Sung
We propose a double layered (intradural and epidural patch) duraplasty that utilizes Lyoplant and Duraseal. We examined a 47-year-old woman after decompression for thoracic ossification of posterior longitudinal ligament was performed in another hospital. On postoperative day 7, she complained of weakness in both legs. Postoperative magnetic resonance imaging (MRI) showed cerebrospinal fluid (CSF) collection with cord compression. In the operative field, we found 2 large dural defects on the ventral dura mater...
June 2016: Korean Journal of Spine
A Kumar, R S Bhandari
Morgagni hernia is the rarest of all congenital diaphragmatic hernias, first described in 1769. It is rarely symptomatic and found on routine radiological examinations for other conditions. Gastric outlet obstruction in adults with Morgagni Hernia is exceedingly rare. An 80-year-old man was taken to the operating room with a diagnosis of Morgagni hernia with gastric outlet obstruction. An upper midline laparotomy was performed, and the incarcerated pylorus and antrum of the stomach reduced with primary closure of the defect...
2016: Journal of Surgical Case Reports
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