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https://www.readbyqxmd.com/read/28406445/morphofunctional-alterations-in-zebrafish-danio-rerio-gills-after-exposure-to-mercury-chloride
#1
Rachele Macirella, Elvira Brunelli
Mercury (Hg) is a global pollutant that may exert its toxic effects on living organisms and is found in both aquatic and terrestrial ecosystems in three chemical forms; elemental, organic, and inorganic. The inorganic form (iHg) tends to predominantly accumulate in aquatic environments. The gill apparatus is a very dynamic organ that plays a fundamental role in gas exchange, osmoregulation, acid-base regulation, detoxification, and excretion, and the gills are the primary route of waterborne iHg entrance in fish...
April 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28398607/wagr-syndrome-and-congenital-hypothyroidism-in-a-child-with-a-mosaic-11p13-deletion
#2
Minh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, Joris Andrieux, Cong Toai Tran, Heidi Tampere, Delphine Ceraso, Sylvie Manouvrier, Gérard Tachdjian, Catherine Roche-Lestienne, Catherine Vincent-Delorme
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In order to clarify the mechanism underlying his thyroid dysgenesis, sequence analysis of candidate thyroid developmental genes was performed...
April 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28394649/adamtsl4-assessment-in-ectopia-lentis-reveals-a-recurrent-founder-mutation-in-polynesians
#3
Katherine A van Bysterveldt, Rasha Al Taie, Will Ikink, Verity F Oliver, Andrea L Vincent
BACKGROUND: To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. MATERIALS AND METHODS: Subjects underwent comprehensive ophthalmic examination, including keratometry. Mutational analysis of ADAMTSL4 and P3H2 was undertaken using PCR, high resolution melting analysis, and sequencing...
April 10, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28352016/associated-anomalies-and-clinical-outcome-in-children-with-ectopic-kidney
#4
Cagla Serpil Dogan, Mustafa Erman Dorterler, Mustafa Devran Aybar, Halil Ciftci, Mehmet Gulum, Yigit Akin, Ercan Yeni
Urological anomalies can be seen in children with renal ectopia (RE) and can result in renal impairment. Therefore, we evaluated associated anomalies and renal outcome in our patients with RE. Sixty-eight children who were diagnosed with RE between January 2009-May 2014 were retrospectively studied. A total of 68 patients, 36 (52.9%) boys, with a median age of 67 months (4-201) and a median follow-up period of 14 months (3-113) were included in the study. Simple RE (S-RE) was found in 51 (75%) patients, of which 46 were unilateral and five were bilateral (discoid kidney)...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28344916/pentalogy-of-cantrell-is-echocardiography-sufficient-in-the-neonatal-period
#5
Elke Zani-Ruttenstock, Augusto Zani, Osami Honjo, Priscilla Chiu
Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28342117/otto-mennicke-1876-and-the-first-description-of-skull-base-anomalies-causing-cerebellar-tonsillar-ectopia-one-of-the-first-mentions-of-the-chiari-i-malformation
#6
Fabian N Fries, Philipp Hendrix, Titus J Brinker, Marios Loukas, R Shane Tubbs
INTRODUCTION: Although Hans Chiari made significant and meaningful contributions to our understanding and classification of hindbrain herniations, others have also contributed to this knowledge. One figure who has been lost to history is Otto Mennicke. Herein, we discuss his role in our understanding of tonsillar ectopia and his life and connection to Hans Chiari. CONCLUSIONS: Our knowledge of what is now known as the Chiari malformations has been shaped by several clinicians including Otto Mennicke...
March 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#7
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28326451/application-of-endoscopic-third-ventriculostomy-for-treating-hydrocephalus-correlated-chiari-type-i-malformation-in-a-single-chinese-neurosurgery-centre
#8
Yiping Wu, Chuzhong Li, Xuyi Zong, Xinsheng Wang, Songbai Gui, Caiping Gu, Yazhuo Zhang
The correlation between hydrocephalus and Chiari type I malformation (CIM) has been debated since Chiari's first descriptions of CIM but some studies have shown that CIM and hydrocephalus (HCP) could cause symptoms/disease of each other or vice versa. Recent research has found that treatment focused on hydrocephalus with ventricle enlargement also provides alleviation of CIM and even of syringomyelia. However, the lack of consensus among previous studies left unanswered the question of how endoscopic third ventriculostomy (ETV) addresses CIM and why it fails...
March 22, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28319023/isolated-bilateral-simplex-ureteric-ectopia-bladder-capacity-as-an-indicator-of-continence-outcome
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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