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Ectopia

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https://www.readbyqxmd.com/read/28214917/mtss1-promotes-maturation-and-maintenance-of-cerebellar-neurons-via-splice-variant-specific-effects
#1
Thorsten Sistig, Fanziska Lang, Sebastian Wrobel, Stephan L Baader, Karl Schilling, Britta Eiberger
Efficient coupling of the actin cytoskeleton to the cell membrane is crucial for histogenesis and maintenance of the nervous system. At this critical interface, BAR (Bin-Amphiphysin-Rvs) proteins regulate membrane bending, shown to be instrumental for mobility and morphogenesis of individual cells. Yet, the systemic significance of these proteins remains largely unexplored. Here, we probe the role of a prominent member of this protein family, the inverse-BAR protein Mtss1, for the development and function of a paradigmatic neuronal circuit, the cerebellar cortex...
February 18, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28207607/pars-plana-vitrectomy-and-lensectomy-for-ectopia-lentis-with-and-without-the-induction-of-a-posterior-vitreous-detachment
#2
Mandeep S Singh, Edward J Casswell, Stavroula Boukouvala, Petros Petrou, David G Charteris
PURPOSE: Posterior hyaloid removal during pars plana vitrectomy and lensectomy for ectopia lentis is commonly performed, but may increase the risk of intraoperative retinal breaks and postoperative retinal detachment. This study evaluated outcomes after pars plana vitrectomy and lensectomy with or without posterior hyaloid removal. METHODS: This retrospective observational cohort study included ectopia lentis cases that underwent pars plana vitrectomy and lensectomy (2005-2014), with or without intraoperative induction of a posterior vitreous detachment (PVD)...
February 15, 2017: Retina
https://www.readbyqxmd.com/read/28203309/a-recurrent-case-of-pentalogy-of-cantrell-a-rare-case-with-sonological-findings-and-review-of-literature
#3
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/28197355/a-case-of-crossed-left-renal-ectopia-identified-during-colostomy-reversal
#4
Rachel NeMoyer, Sumana Narayanan, Nell Maloney-Patel
Unilateral crossed renal ectopia without fusion is an uncommon anatomic anomaly, which often goes undiagnosed. We report a case of this renal variant discovered incidentally during colostomy reversal after Hartmann's procedure for diverticular stricture.
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/28176809/unusual-life-cycle-and-impact-on-microfibril-assembly-of-adamts17-a-secreted-metalloprotease-mutated-in-genetic-eye-disease
#5
Dirk Hubmacher, Michael Schneider, Steven J Berardinelli, Hideyuki Takeuchi, Belinda Willard, Dieter P Reinhardt, Robert S Haltiwanger, Suneel S Apte
Secreted metalloproteases have diverse roles in the formation, remodeling, and the destruction of extracellular matrix. Recessive mutations in the secreted metalloprotease ADAMTS17 cause ectopia lentis and short stature in humans with Weill-Marchesani-like syndrome and primary open angle glaucoma and ectopia lentis in dogs. Little is known about this protease or its connection to fibrillin microfibrils, whose major component, fibrillin-1, is genetically associated with ectopia lentis and alterations in height...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28157223/novel-variants-in-pax6-gene-caused-congenital-aniridia-in-two-chinese-families
#6
R Zhang, S Linpeng, X Wei, H Li, Y Huang, J Guo, Q Wu, D Liang, L Wu
PurposeTo reveal the underlying genetic defect in two four-generation Chinese families with aniridia and explore the pathologic mechanism.MethodsFull ophthalmic examinations were performed in two families with aniridia. The PAX6 gene was directly sequenced in patients of two families, and the detected variants were screened in unaffected family members and two hundred unrelated healthy controls. Real-time quantitative PCR was used to explore pathologic mechanisms of the two variants.ResultsAniridia, cataract, and oscillatory nystagmus were observed in patients of the two families...
February 3, 2017: Eye
https://www.readbyqxmd.com/read/28152494/transverse-testicular-ectopia-with-scrotal-hypospadias-but-without-inguinal-hernia-case-report-of-a-rare-association
#7
Pradeep Kajal, Kamal Nain Rattan, Namita Bhutani, Vijender Sangwan
Transverse testicular ectopia is an extremely rare anomaly, in which both the testis migrate towards the same hemiscrotum through the same inguinal canal. It is usually associated with other abnormalities such as persistent Mullerian duct syndrome, true hermaphroditism, inguinal hernia, pseudohermaphroditism, and scrotal anomalies; the association with inguinal hernia being the commonest. We, here, report a case of transverse testicular ectopia in a 12 years old boy having the ectopic testis in contralateral hemiscrotum without any inguinal hernia but having scrotal hypospadias with severe chordee...
January 19, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28128986/comparison-of-intravitreal-bevacizumab-intravitreal-ranibizumab-and-laser-photocoagulation-for-treatment-of-type-1-retinopathy-of-prematurity-in-turkish-preterm-children
#8
Emrah Utku Kabataş, Bengi Ece Kurtul, Pınar Altıaylık Özer, Naciye Kabataş
PURPOSE: To evaluate effectiveness of treatment modalities, major complications and refractive errors in children who were treated with intravitreal bevacizumab (IVB), intravitreal ranibizumab (IVR) or laser photocoagulation (LP) for type 1 retinopathy of prematurity (ROP). METHODS: Premature infants who underwent IVB monotherapy (Group 1), IVR monotherapy (Group 2) or LP (Group 3) for type 1 ROP and infants with spontaneously regressed ROP (Group 4) were included for the study...
January 27, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28125844/proteomic-analysis-of-the-bovine-and-human-ciliary-zonule
#9
Alicia De Maria, Phillip A Wilmarth, Larry L David, Steven Bassnett
Purpose: The zonule of Zinn (ciliary zonule) is a system of fibers that centers the crystalline lens on the optical axis of the eye. Mutations in zonule components underlie syndromic conditions associated with a broad range of ocular pathologies, including microspherophakia and ectopia lentis. Here, we used HPLC-mass spectrometry to determine the molecular composition of the zonule. Methods: Tryptic digests of human and bovine zonular samples were analyzed by HPLC-mass spectrometry...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28094762/persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-a-novel-amh-receptor-mutation
#10
Özlem Korkmaz, Samim Özen, Nurhan Özcan, Petek Bayındır, Sait Şen, Hüseyin Onay, Damla Gökşen, Ali Avanoğlu, Ferda Özkınay, Şükran Darcan
Persistent Mullerian duct syndrome is the result of either anti-Mullerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure (testis/?) was palpated during the physical examination of a 13-month-old male patient who admitted because of bilateral undescended testes. Structures suggestive of ovaries, a uterus and fallopian tubes were observed during laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed wıth a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c...
January 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28039900/evidence-of-early-defects-in-cajal-retzius-cell-localisation-during-brain-development-in-a-mouse-model-of-dystroglycanopathy
#11
H S Booler, V Pagalday-Vergara, J L Williams, M Hopkinson, S C Brown
AIMS: The secondary dystroglycanopathies represent a heterogeneous group of congenital muscular dystrophies characterised by the defective glycosylation of alpha dystroglycan. These disorders are associated with mutations in at least 17 genes, including Fukutin-related protein (FKRP). At the severe end of the clinical spectrum there is substantial brain involvement, and cobblestone lissencephaly is highly suggestive of these disorders. The precise pathogenesis of this phenotype has however, remained unclear with most attention focused on the disruption to the radial glial scaffold...
December 31, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28028488/bilateral-ectopia-lentis-with-isolated-lens-coloboma-in-marfan-syndrome
#12
Sabin Sahu, Reena Yadav, Sharad Gupta, Lila Raj Puri
A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively, improving to 20/40 with -4.5 DS/-3.0 DC x 10° correction in the right eye and 20/80 with -10.0 DS/-6.5 Dc x10° correction in the left eye. On slit lamp examination under mydriasis, both eyes revealed ectopia lentis with lens coloboma and stretched zonules...
2016: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28024737/testicular-ectopia-why-does-it-happen-and-what-do-we-do
#13
Vishal V Punwani, Jeremy S Y Wong, Christopher Y H Lai, Jessalynn C Y Chia, John M Hutson
BACKGROUND/AIM: Testicular ectopia is rare, but the large range of anatomical locations described in the literature has spawned an abundance of possible theories to explain etiology. However, as the anatomical characteristics of normal testicular descent have only been elucidated recently, many of the theories of testicular ectopia do not incorporate this new perspective. In this study we aimed to determine what was in the literature about ectopic testis since 1980, and then try to explain the different anatomical variants in the light of current knowledge about testicular descent...
December 21, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28012556/-crossed-renal-ectopia-in-a-patient-with-a-complicated-sigma-neoplasia
#14
Luis Eduardo Pérez-Sánchez, Mauricio Burneo-Esteves, Adriá Rosat-Rodrigo, Caleb Baz-Figueroa, Antonio Dámaso Pérez-Álvarez, Manuel Ángel Barrera-Gómez
BACKGROUND: Crossed renal ectopia is a rare pathology that is often asymptomatic. Intraoperative detection with a sigma complicated neoplasia is more infrequent and requires correct management to avoid a renal ureteral injury. AIM: To present a case report of a patient with a sigma complicated neoplasia and a crossed renal ectopia detected incidentally. CASE REPORT: We present the case of a 62-year-old man that was submitted for emergency surgery for a sigma perforated neoplasm, and who presented with a previously undiagnosed left-side CRE...
December 21, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/27995289/the-fetus-with-ectopia-cordis-experience-and-expectations-from-two-centers
#15
Maria C Escobar-Diaz, Sherzana Sunderji, Wayne Tworetzky, Anita J Moon-Grady
Ectopia cordis (EC) is a rare congenital anomaly often associated with congenital heart disease (CHD). There is a lack of contemporary information on EC diagnosed prenatally. We sought to combine the experiences of two regional referral centers in order to evaluate current outcomes for EC. Clinical, echocardiographic features and perinatal outcomes of fetuses with EC managed at two large cardiac centers from 1995 to 2014 were retrospectively reviewed. Seventeen fetuses with EC were diagnosed at a median gestational age of 23 weeks (range 17-36)...
December 19, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27977032/multiple-pathological-ocular-findings-in-a-patient-with-phace-syndrome
#16
Elif Demirkilinc Biler, Onder Uretmen
The authors describe a 2-year-old girl diagnosed as having posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities (PHACE) syndrome that presented with a large facial hemangioma of the forehead and eyelid, ptosis, microphthalmia, persistent pupillary membrane and pupillary ectopia, congenital oculomotor nerve palsy of the affected eye, and bilateral optic disc dysplasia. [J Pediatr Ophthalmol Strabismus. 2016;53:e72-e74.].
December 8, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27957472/diagnosis-and-treatment-of-crossed-testicular-ectopia
#17
Mahdi Ben Dhaou, Hamdi Louati, Ahmed Kotti, Hayet Zitouni, Mohamed Jalouli, Riadh Mhiri
No abstract text is available yet for this article.
September 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27957373/a-rare-case-report-of-thoracic-ectopia-cordis-an-obstetrician-s-point-of-view-in-multidisciplinary-approach
#18
Diana Ramasauskaite, Vilija Snieckuviene, Viktorija Zitkute, Ramune Vankeviciene, Dalia Lauzikiene, Grazina Drasutiene
Ectopia cordis is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. It can be associated with other congenital abnormalities. Overall, the prognosis for infants with ectopia cordis is very poor but depends greatly on the type and severity of ectopia cordis and intracardiac and associated malformations. We present one case of a fetus with prenatally diagnosed thoracic ectopia cordis with intracardiac defects and omphalocele, all the abnormalities seen in pentalogy of Cantrell except a diaphragmatic defect...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27955848/-intrathyroidal-location-of-parathyroid-glands-atypical-presentation-of-multiple-endocrine-neoplasia-type-1-syndrome
#19
Marta de la Fuente-Bartolomé, Alejando Moreno-Bargueiras, Irene Osorio-Silla, José Ignacio Martínez-Pueyo, Felipe de la Cruz-Vigo, Lara Gutiérrez-Ashling
BACKGROUND: The most common manifestation of MEN 1 syndrome is primary hyperparathyroidism (PHPT) with parathyroid multiglandular affectation. The intrathyroidal situation represents 3-4% of all glands, and it is the second most frequent location in the cervical ectopias. CLINICAL CASE: 11 year old patient, with a family history of MEN1 syndrome and carrier of this same mutation. Patient presents HPTP with osteopenia. The cervical ultrasound shows three compatible images with pathological parathyroid glands (bilateral lower and upper left)...
December 9, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/27935666/comparison-of-transverse-computed-tomographic-excretory-urography-images-and-maximum-intensity-projection-images-for-diagnosing-ectopic-ureters-in-dogs
#20
Scott Secrest, Andrew Bugbee, Kenneth Waller, David A Jiménez
Computed tomographic maximum intensity projection (MIP) images have been shown to improve reader confidence in their diagnoses and to improve detection of vascular structures and pulmonary nodules. The objectives of this method comparison study were to compare transverse source computed tomographic excretory urography (CTEU) images to two, five, and 10 slab thick MIP images for diagnosing canine ectopic ureters, compare reader confidence, and evaluate interobserver agreement. Two board-certified veterinary radiologists and a board-certified small animal internist blindly reviewed transverse source CTEU and two, five, and 10 slab thick MIP images of 24 dogs enrolled in the study...
December 9, 2016: Veterinary Radiology & Ultrasound
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