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https://www.readbyqxmd.com/read/29768367/the-phenotypic-heterogeneity-of-patients-with-marfan-related-disorders-and-their-variant-spectrums
#1
Go Hun Seo, Yoon-Myung Kim, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with suspected MFS and LDS were investigated as a retrospective manner. In patients with suspected MFS patients, genetic testing was conducted in half of 44 patients who met the revised Ghent criteria clinically and half of 39 patients who did not meet these criteria...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29752046/long-term-outcomes-for-pediatric-patients-having-transscleral-fixation-of-the-capsular-bag-with-intraocular-lens-for-ectopia-lentis
#2
Julia M Byrd, Marielle P Young, Wei Liu, Yue Zhang, David B Tate, Alan S Crandall, Leah A Owen
PURPOSE: To report the long-term outcomes of transscleral fixation of capsular tension rings (CTR) with intraocular lens (IOL) placement in pediatric patients with ectopia lentis. SETTING: John A. Moran Eye Center, University of Utah, Salt Lake City, Utah, USA. DESIGN: Retrospective case series. METHODS: Pediatric patients requiring lens extraction with transscleral capsular bag fixation with a CTR and IOL for ectopia lentis between January 2006 and January 2016 were analyzed...
May 8, 2018: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29747365/-a-preliminary-observation-of-implanting-a-double-eyelet-capsular-tension-ring-in-eyes-with-serious-lens-subluxation
#3
B Zhang, Y Q Huang, Q Z Cao, J Q Lin, Y Y Wang, D Y Zheng
Objective: To evaluate the clinical efficiency of an iris hook combined with a modified double-eyelet capsular tension ring (MCTR) in the treatment of serious lens subluxation. Methods: Retrospective case series. A total of 16 patients (20 eyes) with serious lens subluxation were enrolled in Zhongshan Ophthalmic Center from March 2016 to December 2016. All the patients had an iris hook inserted to support the capsule during the phacoemulsification. Then an MCTR was implanted and sutured onto the sclera. Both intraoperative and postoperative complications, such as posterior capsular opacification and macular edema, were recorded...
May 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29707410/a-2-year-old-child-with-bilateral-ectopis-lentis-and-a-novel-fbn1-gene-variant-cys129ser
#4
Ahmed N Mohammad, Paldeep S Atwal
Marfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for Marfan syndrome diagnosis helped in resolving some of the confusion, especially in younger children. We report on a case of bilateral ectopia lentis in a 2-year-old child with a normal echocardiogram. FBN1 sequencing revealed a novel likely pathogenic variant described as c...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29698085/analysis-of-corneal-astigmatism-before-surgery-in-chinese-congenital-ectopia-lentis-patients
#5
Yichi Zhang, Guangming Jin, Charlotte Aimee Young, Qianzhong Cao, Junxiong Lin, Jianqiang Lin, Yiyao Wang, Danying Zheng
Purpose This study aims to describe the characteristics of corneal astigmatism before surgery in congenital ectopia lentis (CEL) patients. Methods This retrospective study reviewed 306 CEL patients from 1st January 2006, to 31st December 2015. One eye was randomly selected from each patient when the patient had bilateral EL. The influence of sex, laterality, and Marfan syndrome on corneal astigmatism in different age subgroups was evaluated and compared. The correlation between age and corneal astigmatism was evaluated...
April 26, 2018: Current Eye Research
https://www.readbyqxmd.com/read/29696429/the-pulmonary-artery-in-pediatric-patients-with-marfan-syndrome-an-underestimated-aspect-of-the-disease
#6
Veronika C Stark, Michael Huemmer, Jakob Olfe, Goetz C Mueller, Rainer Kozlik-Feldmann, Thomas S Mir
Aortic root dilatation and its complications are known to be the most important and life limiting features in patients with Marfan syndrome (MFS). Since monitoring of patients, preventive medical and surgical treatments are available nowadays, other MFS pathologies are becoming more relevant for the outcome of the disease. Main pulmonary artery (MPA) dilatation is a cardiac finding, which has not been fully investigated in children. Due to the similarities in tissue composition of the aortic and pulmonary root, MPA dilatation may cause complications and require treatment...
April 25, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29692520/hemiagenesis-of-thyroid-with-dual-thyroid-ectopia-a-rare-case-report
#7
Pankaj S Jha, Varsha Rote-Kaginalkar, Prashant Titare, Manoj B Jadhav
Developmental defects of the thyroid gland are very rare. The common developmental abnormalities are ectopic thyroid, hemiagenesis and agenesis of thyroid gland. These developmental defects may or may not be associated with deranged thyroid function tests. Ultrasonography (USG) is the initial modality of choice for thyroid hemiagenesis but further evaluation by computed tomography (CT) scan or nuclear scan should be done to look for ectopic thyroid tissue rest. Here, we report a rare case of a 9-year-old female having hemiagenesis of the right thyroid lobe and isthmus along with dual ectopic thyroid tissue at prehyoid and infrahyoid regions of the neck presenting as a midline neck swelling and subclinical hypothyroidism...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29687786/a-novel-mutation-of-amhr2-in-two-siblings-with-persistent-m%C3%A3-llerian-duct-syndrome
#8
Edip Unal, Ruken Yıldırım, Suat Tekin, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
Persistent Müllerian Duct syndrome (PMDS) develops due to deficiency of anti-Müllerian hormone (AMH) or insensitivity of target organs to AMH in people with 46, XY karyotype. PMDS is characterized with normal male phenotype of external genital associated with persistence of Müllerian structures. The 2.5 years old male patient presented due to bilateral undescended testis. Karyotype was 46, XY. The amount of increase in testosterone following human chorionic gonadotropin (hCG) stimulation test was normal...
April 24, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29681836/secondary-angle-closure-due-to-crystalline-lens-dislocation-in-a-patient-with-atopic-dermatitis-and-chronic-eye-rubbing
#9
Justin Kuiper, Mark Slabaugh
Purpose: To report an unusual case of ectopia lentis and angle closure in a patient with chronic eye rubbing. Methods: A 57-year-old male with a history of poorly controlled atopic dermatitis presented with right eye pain, decreased vision, and an intraocular pressure (IOP) of 55 mm Hg. He had no past history of ocular disease and no reported history of trauma. He did report a history of chronic eye rubbing. Results: Best corrected visual acuity was hand motions...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29669771/transverse-testicular-ectopia-with-persistent-mullerian-duct-syndrome
#10
Archit Gupta, Prince Raj, Rajinder Singh Jhobta
Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism caused by defects in synthesis or actions of mullerian inhibiting factor characterised by persistence of mullerian duct structures in a normal karyotype male. Transverse testicular ectopia (TTE) is a rare disease in which both testes are located in the same inguinal canal. We report a case of PMDS with TTE in a 1-year-old child who presented with non-palpable testis on right side with hernia on left side. Left herniotomy with bilateral trans-septal orchidopexy was done in this patient...
April 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29605281/simultaneous-pupil-expansion-and-displacement-for-femtosecond-laser-assisted-cataract-surgery-in-patients-with-lens-ectopia
#11
Boris Malyugin, Natalia Anisimova, Olga Antonova, Lisa B Arbisser
We describe a new approach for cataract surgery in ectopia lentis associated with an inadequately dilated pupil. A Malyugin ring 2.0 is first positioned in the eye to expand the pupil. One of the ring coils is then temporarily sutured to the limbal area with 10-0 polypropylene. With this maneuver, the pupillary expansion ring is placed in alignment with the center of the ectopic lens. Femtosecond laser anterior capsulotomy and lens fragmentation is then performed. Next, the temporary suture is released, a capsular hook(s) is placed to support the lens, and the lens is emulsified...
March 28, 2018: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29587526/ocular-manifestations-of-marfan-syndrome-in-children-and-adolescents
#12
Daniel J Salchow, Petra Gehle
PURPOSE: To study ocular manifestations of Marfan syndrome in children and adolescents. METHODS: Retrospective comparative cohort study on consecutive patients up to age 17 years, presenting to the interdisciplinary Marfan clinic of Charité-University Medicine Berlin over a period of 4 years. RESULTS: A total of 52 Marfan syndrome patients and 73 controls were enrolled. In Marfan syndrome eyes, the cornea was flatter (mean keratometry, 40...
March 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29533387/dilute-lidocaine-suppresses-ectopic-neuropathic-discharge-in-drgs-without-blocking-axonal-propagation-a-new-approach-to-selective-pain-control
#13
Pini Koplovitch, Marshall Devor
Ectopic impulse discharge (ectopia) generated in the soma of afferent neurons in dorsal root ganglia (DRGs) following nerve injury is thought to be a major contributor to neuropathic pain. The DRG is thus a prime interventional target. The process of electrogenesis (impulse generation) in the DRG is far more sensitive to systemically administered Na channel blockers than the process of impulse propagation along sensory axons. It should therefore be possible to selectively suppress DRG ectopia with local application of membrane stabilizing agents without blocking normal impulse traffic...
March 12, 2018: Pain
https://www.readbyqxmd.com/read/29473389/right-ectopic-intrathoracic-kidney-unusual-clinical-presentation-in-a-young-patient-affected-by-scrotal-varicocele
#14
Lucio Dell'Atti, Andrea Benedetto Galosi
Intrathoracic kidney is a partial or complete displacement of the kidney above the hemidiaphragm into the mediastinal compartment of the thorax. It is usually seen as an incidental finding discovered on chest radiograph or abdominal ultrasound. However computed tomography consents the correct detection of intrathoracic masses and defines their shape, size, and extent. We here report a case of ectopic thoracic kidney in a 22-year-old man who had a long history of scrotal discomfort associated with right varicocele...
December 31, 2017: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/29422749/outcomes-of-scleral-fixated-intraocular-lens-in-children-with-idiopathic-ectopia-lentis
#15
Abdulaziz I Al Somali, Faisal N Al-Dossari, Khalid E Emara, Ahmed Al Habash
PURPOSE: The purpose of the study was to review the safety and stability of scleral-fixated intraocular lens (IOL) 2 years after implantation in children with idiopathic ectopia lentis (EL). METHODS: This retrospective case series enrolled children with EL managed between 2011 and 2015 at a tertiary eye hospital in the eastern of Saudi Arabia. Data were collected on age, gender, vision, isolated or syndromic pathology, intraoperative and postoperative complications, spherical equivalent refraction, and final best-corrected visual acuity (BCVA)...
October 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/29375692/management-of-upper-urinary-tract-calculi-in-crossed-fused-renal-ectopic-anomaly
#16
Liang Huang, Yong Lin, Zhengyan Tang, Dongjie Lie, Zhao Wang, Hequn Chen, Guilin Wang
The aim of the present study was to summarize the management of upper urinary tract calculi in crossed fused renal ectopia (CFRE). Two patients were retrospectively studied in Xiangya Hospital (Changsha, China) and all relevant literature published in English between 1996 and 2016 was reviewed. All patients, including those reported in the literature, were characterized by age, sex, manifestation, therapy history, ectopic side, stone location, surgery and outcome. The patients had a mean age of 42.3±18.5 years, a male: Female ratio of 5:4 and the ratio of renal ectopic side was 9:8 (left:right)...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29336629/pupillary-manifestations-of-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#17
Sanket S Shah, Sudhi P Kurup, Hantamalala Ralay Ranaivo, Rebecca B Mets-Halgrimson, Marilyn B Mets
BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29305299/identification-of-oaf-and-pvrl1-as-candidate-genes-for-an-ocular-anomaly-characterized-by-peters-anomaly-type-2-and-ectopia-lentis
#18
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Laivuori Hannele, João Lavinha
Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations responsible for those ocular anomalies with neurologic impairment in an individual with a de novo balanced chromosome translocation t(11;18)(q23.3;q11.2)dn. Disruption of OAF, the human orthologue of the Drosophila oaf, by the 11q23.3 breakpoint results in reduced expression of this transcriptional regulator. Furthermore, four most likely nonfunctional chimeric transcripts comprising up to OAF exon 3, derived from the der(11) allele, have also been identified...
March 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29285121/persistent-m%C3%A3-llerian-duct-syndrome-a-case-report-and-review
#19
Xiaoya Ren, Di Wu, Chunxiu Gong
Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti-Müllerian hormone (AMH) or a defect in its type II receptor. The current study reports the clinical data and results of the genetic analysis of a 17-month-old male diagnosed with PMDS. The clinical manifestations of the patient included a left transverse testicular ectopia and bilateral cryptorchidism. Pelvic ultrasonography indicated two testes on the same left inguinal ring and left inguinal hernia and uterine tissue located at the left rear of the bladder...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29283142/bilateral-idiopathic-spontaneous-filtering-bleb-with-ectopia-lentis-a-case-report-and-review-of-literature
#20
Premanand Chandran, Anjali S Khairnar, Nabeed Aboobacker, Ganesh V Raman
A 26-year-old male presented with superior filtering bleb with scleral thinning, dislocated lens, and hypotony in both the eyes. His cornea was normal without any sign of ectasia, and there was no history of recurrent redness, trauma, or surgery in either eye. Anterior segment optical coherence tomography did not reveal communicating fistula between the anterior chamber and subconjunctival space. Physical examination and blood investigations did not reveal any systemic association. He was diagnosed to have spontaneous filtering bleb, which is a rare condition observed with ocular or systemic abnormalities...
January 2018: Indian Journal of Ophthalmology
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