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https://www.readbyqxmd.com/read/28319023/isolated-bilateral-simplex-ureteric-ectopia-bladder-capacity-as-an-indicator-of-continence-outcome
#1
Vasilis Stavrinides, Paul Charlesworth, Dan Wood, Divyesh Desai, Abraham Cherian, Imran Mushtaq, Peter Cuckow, Naima Smeulders
INTRODUCTION: Isolated bilateral simplex ectopic ureters (BSEUs) are rare but pose a therapeutic challenge: ureteric reimplantation alone does not accomplish continence in all. Identifying the patients needing additional procedures for continence early could prevent multiple operations. OBJECTIVE: Potential preoperative indicators for postoperative continence are explored in eight BSEU girls without cloacal, anorectal, or spinal anomalies. STUDY DESIGN: With institutional approval, all patients with BSEU between 1985 and 2012 were retrospectively reviewed...
March 6, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28296765/intermittent-pupillary-capture-of-intraocular-lens-after-transscleral-fixation-in-congenital-ectopia-lentis-patient-triggered-by-dark-environment-a-case-report
#2
Zhirong Wang, Qianzhong Cao, Guangming Jin, Charlotte Aimee Young, Yiyao Wang, Danying Zheng
RATIONALE: Although transscleral-fixated intraocular lens (IOL) implantation has been the most frequently chosen treatment for patients with inadequate capsule support, the ghost pupillary capture phenomenon did not cause enough attention. PATIENT CONCERNS: We present an unusual case withintermittent pupillary capture of intraocular lens. DIAGNOSIS: After 5 minutes staying in the dark environment, the pentacam examination revealed a mild nasal pupillary capture of the IOL...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28279990/hindbrain-herniation-in-chiari-ii-malformation-on-fetal-and-postnatal-mri
#3
U D Nagaraj, K S Bierbrauer, B Zhang, J L Peiro, B M Kline-Fath
BACKGROUND AND PURPOSE: As the practice of in utero repair of myelomeningoceles becomes more prevalent, knowledge of the expected MR imaging findings has become increasingly important. Our aim was to examine neuroimaging findings with a focus on hindbrain herniation and ventricular size in fetuses with open spinal dysraphism and to compare them with postnatal imaging features in groups undergoing prenatal-versus-postnatal repair. MATERIALS AND METHODS: Single-center retrospective analysis was performed on MRIs of fetuses with open spinal dysraphism from January 2004 through July 2015 with available postnatal imaging...
March 9, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28257833/biometry-characteristics-in-adults-and-children-with-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#4
Michael Kinori, Sarah Wehrli, Iris S Kassem, Nathalie F Azar, Irene H Maumenee, Marilyn B Mets
PURPOSE: To report on the biometric findings of adults and children with Marfan syndrome (MFS) recruited from two Annual National Marfan Foundation Conferences (2012, 2015). DESIGN: Cross-sectional study METHODS: Subjects diagnosed as having MFS by Ghent 2 nosology were included for analysis. Subjects were divided into "adults" (≥16 years) and "children" (5-15 years). Biometric data included values for refractive error, axial length (AL), corneal curvature, anterior chamber depth, lens thickness and central corneal thickness...
February 28, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28254834/pelvic-renal-ectopia-an-incidental-finding
#5
Farah Aslam
No abstract text is available yet for this article.
March 2, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28251020/regional-clinical-and-biochemical-differences-among-patients-with-primary-hyperparathyroidism
#6
Özer Makay, Beyza Özçınar, Turgay Şimşek, Cumhur Arıcı, Bülent Güngör, Serdar Özbaş, Tamer Akça, Ali Uğur Emre, Güldeniz Karadeniz Çakmak, Müfide Akçay, Bülent Ünal, Mustafa Girgin, Sadullah Girgin, Semih Görgülü, Atakan Sezer, Adem Karataş, İbrahim Ali Özemir, Nihat Aksakal, Serap Erel, M Ümit Uğurlu, Ali İlker Filiz, Can Atalay, Ali Uzunköy, Uğur Deveci, Çetin Kotan, Gökhan İçöz, Yavuz Kurt, Abut Kebudi, N Zafer Cantürk, Yeşim Erbil, Rumen Pandev, Bahadır M Güllüoğlu
BACKGROUND: Environmental habitat may play a role in clinical disparities of primary hyperparathyroidism (pHPT) patients. AIMS: To compare preoperative clinical symptoms and associated conditions and surgical findings in patients with pHPT, living in different geographical regions from the Black Sea, Mediterranean and Anatolia regions. STUDY DESIGN: Retrospective, clinical-based multi-centric study of 694 patients with pHPT. METHODS: Patients from 23 centers and 8 different geographical regions were included...
January 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28228880/crossed-nonfused-renal-ectopia-with-variant-blood-vessels-a-rare-congenital-renal-anomaly
#7
Nawal Ebrahim Al-Hamar, Khalid Khan
Crossed renal ectopia is a rare congenital anomaly, where one of the kidneys crosses the midline and lies opposite to the site of its normal ureteral insertion. Ninety percent of crossed ectopic kidneys are fused to their ipsilateral uncrossed kidney. Crossed renal ectopia without fusion is rare. We present the case of a 53-year-old male with an unusual incidental finding of crossed nonfused renal ectopia, with the left ectopic kidney lying anterior to the right kidney without fusion. The ectopic kidney had dual arterial supply: one from the aorta and another from the right renal artery...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28214917/mtss1-promotes-maturation-and-maintenance-of-cerebellar-neurons-via-splice-variant-specific-effects
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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