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Midline defects

Eric Wallace, Zachary Stewart, David Theriot, William Shaffer, Shane Guillory, Michael Hanemann, Raman Danrad, Bradley Spieler
Background: Plasmacytomas are monoclonal proliferations of plasma cells that typically affect the intramedullary axial skeleton. Imaging findings of an extramedullary plasmacytoma on radiograph and computed tomography can be nonspecific and can resemble other entities such as lymphoma, metastases, chondrosarcomas, or giant cell tumors. Case Report: A 60-year-old female with a medical history of partial complex seizures, hypertension, diabetes, glaucoma, and hyperlipidemia presented with complaints of superficial abdominal pain associated with erythema and swelling for 3 weeks...
2018: Ochsner Journal
Ashley J Robinson, M Ashraf Ederies
This paper is based on a literature review from 2011 to 2016. The paper is divided into two main sections. The first section relates to technical advances in fetal imaging techniques, including fetal motion compensation, imaging at 3.0 T, 3-D T2-weighted MRI, susceptibility-weighted imaging, computed tomography, morphometric analysis, diffusion tensor imaging, spectroscopy and fetal behavioral assessment. The second section relates to clinical updates, including cerebral lamination, migrational anomalies, midline anomalies, neural tube defects, posterior fossa anomalies, sulcation/gyration and hypoxic-ischemic insults...
April 2018: Pediatric Radiology
Joanna L Kaplan, Catherine T Gunther-Harrington, Jessie S Sutton, Joshua A Stern
BACKGROUND: The teratogenic effects of immunomodulatory and certain antimicrobial therapies are described in small rodents and humans. While the described teratogenic effects in small rodents have been extrapolated to make conclusions about its use in the pregnant dam, teratogenic effects of prednisone and doxycycline have not yet been reported in the dog. Here we report and describe midline defects observed in a litter of golden retriever puppies exposed to mid-gestational immunosuppressive and antimicrobial therapy...
March 12, 2018: BMC Veterinary Research
Josep Brocal, Steven De Decker, Roberto José-López, Julien Guevar, Maria Ortega, Tim Parkin, Gert Ter Haar, Rodrigo Gutierrez-Quintana
Congenital vertebral malformations (CVM) are common in brachycephalic 'screw-tailed' dogs; they can be associated with neurological deficits and a genetic predisposition has been suggested. The purpose of this study was to evaluate radiography as a screening method for congenital thoracic vertebral malformations in brachycephalic 'screw-tailed' dogs by comparing it with CT. Forty-nine dogs that had both radiographic and CT evaluations of the thoracic vertebral column were included. Three observers retrospectively reviewed the images independently to detect CVMs...
March 8, 2018: Veterinary Record
Florence A Giger, Corinne Houart
As the embryonic ectoderm is induced to form the neural plate, cells inside this epithelium acquire restricted identities that will dictate their behavior and progressive differentiation. The first behavior adopted by most neural plate cells is called neurulation, a morphogenetic movement shaping the neuroepithelium into a tube. One cell population is not adopting this movement: the eye field. Giving eye identity to a defined population inside the neural plate is therefore a key neural fate decision. While all other neural population undergo neurulation similarly, converging toward the midline, the eye field moves outwards, away from the rest of the forming neural tube, to form vesicles...
2018: Frontiers in Neuroscience
Brittani Jones, Allyson C Berent, Chick W Weisse, Robert Hart, Leilani Alvarez, Anthony Fischetti, B David Horn, Douglas Canning
CASE DESCRIPTION A 14-week-old 7.7-kg (16.9-lb) sexually intact female Golden Retriever was evaluated because of urine dripping from the caudoventral aspect of the abdomen. CLINICAL FINDINGS Ultrasonography, radiography, excretory CT urography, and vaginocystourethroscopy were performed. Results indicated eversion of the bladder through the ventral abdominal wall with exposure of the ureterovesicular junctions, pubic diastasis, and an open vulva and clitoral fossa. Clinical findings were suggestive of bladder exstrophy, a rare congenital anomaly...
March 15, 2018: Journal of the American Veterinary Medical Association
Grace Chiu, Chris Chang, W Eugene Roberts
A 36-year-old woman with good periodontal health sought treatment for a compensated Class II partially edentulous malocclusion associated with a steep mandibular plane (SN-MP, 45°), 9 missing teeth, a 3-mm midline discrepancy, and compromised posterior occlusal function. She had multiple carious lesions, a failing fixed prostheses in the mandibular right quadrant replacing the right first molar, and a severely atrophic edentulous ridge in the area around the mandibular left first and second molars. After restoration of the caries, the mandibular left third molar served as anchorage to correct the mandibular arch crowding...
March 2018: American Journal of Orthodontics and Dentofacial Orthopedics
Bashar Aldeiri, Urmas Roostalu, Alessandra Albertini, Julia Behnsen, Jason Wong, Antonino Morabito, Giulio Cossu
Pentalogy of Cantrell (PC) is a rare multi-organ congenital anomaly that impedes ventral body wall closure and results in diaphragmatic hernia, intra- and pericardial defects. The underlying cellular and molecular changes that lead to these severe developmental defects have remained unknown largely due to the lack of representative animal models. Here we provide in depth characterization of a mouse model with conditional ablation of TGFβRII in Transgelin (Tagln) expressing cells. We show that Tagln is transiently expressed in a variety of cells that participate in the embryonic development and patterning of ventral structures...
February 26, 2018: Scientific Reports
J Marulanda, M Murshed
Craniofacial development is a delicate process that involves complex interactions among cells of multiple developmental origins, their migration, proliferation, and differentiation. Tissue morphogenesis of the craniofacial skeleton depends on genetic and environmental factors, and on specific signaling pathways, which are still not well understood. Developmental defects of the midface caused by the absence, delays, or premature fusion of nasal and maxillary prominences vary in severity; leading to clefts, hypoplasias, and midline expansion...
March 2018: Oral Diseases
Timothy Lee, Aaron J Weiss, Elbert E Williams, Fuad Kiblawi, Joanna Dong, Khanh H Nguyen
OBJECTIVES: Although the median sternotomy has been the traditional approach for congenital heart surgery, young patients and their families often find the midline scar to be cosmetically unappealing. At our center, a right transverse axillary incision has become the standard approach for many congenital cardiac lesions due to its safety, versatility, and unsurpassed aesthetic result. We present our experience with the axillary approach for a diverse array of congenital defects. METHODS: A retrospective review of patients receiving a right transverse axillary incision for congenital cardiac surgery between 2005-2016 was conducted...
February 21, 2018: Seminars in Thoracic and Cardiovascular Surgery
Nuno Maia, Maria J Nabais Sá, Nataliya Tkachenko, Gabriela Soares, Isabel Marques, Bárbara Rodrigues, Ana M Fortuna, Rosário Santos, Arjan P M de Brouwer, Paula Jorge
X-linked Opitz G/BBB syndrome (XLOS) is a multisystemic congenital condition, caused by mutations in the midline-1 gene ( MID1 ), characterized by a large inter- and intrafamilial phenotypic variability and often associated with intellectual disability (ID). We report clinical, genetic, and molecular findings in 4 patients with typical XLOS dysmorphic features belonging to 2 unrelated families. Two novel pathogenic loss-of-function MID1 variants, a maternally inherited c.1656del and a de novo c.1215_1228dup, were identified...
December 2017: Molecular Syndromology
Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by mutations in the DHCR7 gene that result in reduced cholesterol biosynthesis. The aim of the study was to examine the biochemical and clinical features of SLOS in the context of the emerging evidence of the importance of cholesterol in morphogenesis and steroidogenesis. METHODS: We retrospectively reviewed the records of 18 patients (including four fetuses) with confirmed SLOS and documented their clinical and biochemical features...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Maciej Stodolski, Marios Papadakis, Hubert Zirngibl, Peter C Ambe
BACKGROUND: Incisional hernia is a common problem following open abdominal surgery. Hernia repair in patients with relevant medical conditions is a topic of controversy due to the high risk of morbidity and recurrence. We investigated the risk of recurrence in patients with relevant medical conditions managed with a prosthesis in the retromuscular position. METHODS: A retrospective review of the data of patients undergoing midline incisional hernia repair was performed...
February 14, 2018: Asian Journal of Surgery
Johannes T M van Gemert, Jan H Abbink, Robert J J van Es, Antoine J W P Rosenberg, Ron Koole, Ellen M Van Cann
BACKGROUND AND OBJECTIVES: Evaluation of mandibular reconstructions with free fibula flaps. Identification of factors associated with major recipient site complications, that is, necessitating surgical intervention under general anaesthesia. METHODS: Seventy-nine reconstructions were included. The following factors were analyzed: fixation type, number of osteotomies, site of defect (bilateral/unilateral), surgeon, sex, ASA classification, continuous smoking, pathological N-stage, age, defect size, flap ischemic time, and postoperative radiotherapy...
February 15, 2018: Journal of Surgical Oncology
Richard D Mainwaring, William L Patrick, Michael Ma, Frank L Hanley
OBJECTIVES: Midline unifocalization has been developed for the surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. All patients will eventually require reoperation because of the presence of a conduit, and some patients may also require revision of the distal unifocalized bed. The purpose of this study was to analyse the need for unifocalization revision following midline unifocalization. METHODS: This was a retrospective review of 241 patients who underwent midline unifocalization for the treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries...
February 13, 2018: European Journal of Cardio-thoracic Surgery
Kristen S Barratt, Ruth M Arkell
The ZIC2 transcription factor is one of the most commonly mutated genes in Holoprosencephaly (HPE) probands. HPE is a severe congenital defect of forebrain development which occurs when the cerebral hemispheres fail to separate during the early stages of organogenesis and is typically associated with mispatterning of the embryonic midline. Recent study of genotype-phenotype correlations in HPE cases has defined distinctive features of ZIC2-associated HPE presentation and genetics, revealing that ZIC2 mutation does not produce the craniofacial abnormalities generally thought to characterise HPE but leads to a range of non-forebrain phenotypes...
2018: Advances in Experimental Medicine and Biology
Giuditta Mannelli, Francesco Arcuri, Tommaso Agostini, Marco Innocenti, Mirco Raffaini, Giuseppe Spinelli
BACKGROUND AND OBJECTIVES: Reconstruction of tongue cancer defects is challenging due to the complex anatomy and physiology of the tongue. Here, we classify patterns of tongue tissue loss and describe a treatment algorithm for achieving good functional and oncologic outcomes. METHODS: We retrospectively reviewed 50 tongue squamous-cell carcinomas surgically treated between January 2010-June 2015. Cancer resection and tongue reconstruction were stratified according to the missing anatomical subunits...
February 12, 2018: Journal of Surgical Oncology
Lika'a Fasih Y Al-Kzayer, Shamil Naji Sarsam, Nagham Younus Alhur, Tingting Liu, Yozo Nakazawa
Goldenhar´s syndrome (GS) also known as oculo-auriculo-vertebral spectrum (OAVS) is a relatively rare condition. GS is of multifactorial etiology that includes environmental and/or genetic factors, in addition to teratogens that disturb the blastogenesis. A 5-year-old girl from Saudi Arabia, was a member of dizygotic twins conceived by assisted reproductive technology (ART), and born with features of GS. She had asymmetrical face, cleft lip and palate, right microphthalmia and microtia. Radiological imaging showed right maxillary and mandibular bone hypoplasia, asymmetrically enlarged parietal foramina, a persistent midline occipital foramen, abnormal bone arising from occipital bone, extending along tentorium cerebelli, and a lipoma at the right tentorium cerebelli...
January 5, 2018: Oncotarget
Emrah Kantarcioglu, Gokmen Kahilogullari, Murat Zaimoglu, Esin Ozlem Atmis, Elif Peker, Zeynep Yigman, Deniz Billur, Sevim Aydin, Ilhan Memet Erden, Agahan Unlü
PURPOSE: We aimed to determine whether varying the magnetic field during magnetic resonance imaging would affect the development of chicken embryos and neural tube defects. METHODS: Following incubation for 24 h, we exposed chicken embryos to varying magnetic fields for 10 min to assess the impact on development. Three magnetic resonance imaging devices were used, and the eggs were divided into four groups: group 1 is exposed to 1 T, group 2 is exposed to 1.5 T, group 3 is exposed to 3 T, and group 4, control group, was not exposed to magnetic field...
February 1, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Martin Poryo, Paul Hoffmann, Hans-Joachim Schäfers, Clemens-Magnus Meier, Katrin Altmeyer, Hashim Abdul-Khaliq, Michael Zemlin, Sascha Meyer
We present a female neonate with a sternal cleft (SC) and additional aortic aneurysm who presented with respiratory failure. Stabilization of the SC was achieved by using the xyphoid process as an autologous graft bridging the upper part of the SC. We conclude that a step-wise correction of the SC with the use of an autologous graft may improve respiratory function, and should be considered when complete surgical correction is not feasible.
January 2018: European Journal of Pediatric Surgery Reports
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