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https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#1
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29142361/tubular-intestinal-duplication-harboring-gastric-ectopia-accurately-diagnosed-by-tc-99m-pertechnetate-single-photon-emission-computed-tomography-computed-tomography-meckel-s-scan
#2
Ioannis Spyridakis, Domenica Lopresti, Stamata Georga, Chrysostomos Kepertis, Ioannis Efstratiou, Georgios Arsos
A 7-year-old girl with an episode of hematochezia and melena, suspicious for bleeding Meckel's diverticulum, was referred for a Tc-99m pertechnetate Meckel's scan. On dynamic planar scan, apart from prompt gastric visualization an oval-shaped, area of inhomogeneous tracer uptake was observed in the left lower quadrant of the abdomen. Subsequent single-photon emission computed tomography/computed tomography localized this to intestinal lumen, thus establishing the diagnosis of intestinal duplication (ID) with functional gastric mucosa...
October 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29141386/-clinical-characteristics-and-surgical-effect-observation-of-congenital-aniridia-combined-with-cataract
#3
X H Wu, Q Z Cao, Y X Hu, J N Lin, H T Lin, W R Chen, Y Z Liu
Objective: To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. Methods: In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. T-test was used for statistical analysis...
November 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29133165/infant-crossed-renal-ectopia-with-upj-obstruction-repaired-via-robot-assisted-laparoscopic-pyeloplasty
#4
K Puttmann, G O Huang, J T White, K Kukreja, A Seth, C J Koh
INTRODUCTION: We present a robot-assisted approach to surgical treatment of UPJ obstruction associated with crossed renal ectopia in a male infant. METHODS: A 31 year-old woman presented at 37 weeks gestation for prenatal hydronephrosis and delivered at 39 weeks. Renal ultrasound identified the bladder and right kidney in a crossed ectopic position in the left pelvis, and MRI showed the cystic lesion to be hydronephrosis associated with a ureteropelvic junction obstruction of the crossed ectopic right kidney...
October 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29118539/laparoscopic-heminephrectomy-in-horseshoe-kidneys-a-single-center-experience
#5
Santosh Agrawal, Jaisukh Kalathia, Saurabh Sudhir Chipde, Udit Mishra, Anurag Tyagi, Sanjay Parashar
Introduction: Laparoscopic approach in horseshoe kidney (HSK) is a challenge because of the aberrant vessels, the renal isthmus and the renal ectopia are all unique features of this anomaly encountered during the surgery. We report our single center experience with this technique in managing three patients with HSK. Methods: A total of 15 cases (9 males and 6 females) were operated between June 2011 and December 2016 for various indications. Of these four patients were managed laparoscopically, two patients with HSK had non-functioning renal moiety underwent transperitoneal heminephrectomy...
October 2017: Urology Annals
https://www.readbyqxmd.com/read/29104687/traumatic-transient-herniation-concomitant-with-tonsillar-hemorrhagic-contusion-in-a-child
#6
Ahmet Öğrenci, Orkun Koban, Murat Ekşi, Onur Yaman, Sedat Dalbayrak
Downward displacement of cerebellar tonsils more than 5 mm below the foramen magnum is named as Chiari type I malformation and named benign tonsillar ectopia if herniation is less than 3 mm. It does not just depend on congenital causes. There are also some reasons for acquired Chiari Type 1 and benign tonsillar ectopia/herniation. Trauma is one of them. Trauma may increase tonsillar ectopia or may be the cause of new-onset Chiari type 1. The relationship between the tonsil contusion and its position is unclear...
October 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29082121/bilateral-posterior-crystalline-lens-dislocations-in-an-otherwise-healthy-child
#7
Omar A AlShehri, Hashem Almarzouki, Badr A Alharbi, Mohammed Alqahtani, Khaled Allam
Introduction: Ectopia lentis is defined as a crystalline lens displacement, either partially or completely, due to zonular abnormalities. It can be a result of trauma, hereditary ocular disease, or part of systemic diseases, like Marfan syndrome and homocystinuria. Case description: We report a case of a medically free 16-year-old girl, who was referred to our hospital complaining of poor vision and a squint in both eyes since childhood. Her history included a traffic accident when she was one-year-old. She was previously diagnosed with alternating esotropia, which was treated with glasses, alternating patching, and bilateral Botox injections...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/29072420/3d-laparoscopic-anterior-rectal-resection-in-a-patient-with-crossed-fused-renal-ectopia-the-importance-of-3d-imaging
#8
Alessandro Giani, Mattia Garancini, Alberto Delitala, Luca Riva, Luca Gianotti, Vittorio Giardini
No abstract text is available yet for this article.
December 2017: Minerva Chirurgica
https://www.readbyqxmd.com/read/29046082/hydronephrotic-kidney-with-multiple-extra-renal-calyces
#9
S Rajendran, A Cho, P Mishra, A Cherian
Extra-renal calyces are a rare anomaly of the renal collecting system, characterised by the presence of calyces and pelvis outside the renal parenchyma. It may also be associated with other anomalies, such as renal ectopia, fusion and malrotation. We describe an unusual case of extra-renal calyces with six long calyces arising from a suspected multicystic dysplastic kidney that was successfully managed laparoscopically.
October 19, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/29031171/transverse-testicular-ectopia-with-inguinal-hernia-a-rare-case-report
#10
Shubhi Bhatnagar, Shahaji Chavan, Mahendra Bendre
INTRODUCTION: Transverse aberrant testicular maldescent is an extremely rare congenital anomaly characterized by the migration of one testicle towards the opposite inguinal canal. Mostly such cases are reported in children and they are very rarely seen in adults. PRESENTATION OF CASE: We report a case of a 24year old male patient with left reducible indirect inguinal hernia with absence of testis in the right hemiscrotum.On surgical exploration, the patient had both the testicles on the left side...
October 6, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29030926/sternal-malformations-and-anesthetic-management
#11
REVIEW
John H Nichols, Viviane G Nasr
Shamberger and Welch classify sternal malformations into four types: thoracic ectopia cordis, cervical ectopia cordis, thoraco-abdominal ectopia cordis, and cleft sternum. Cleft sternum is the most common subset, with a reported incidence of 1 in 50,000 to 100,000 live births, representing 0.15% of all anterior chest wall malformations. Acostello et al further classify cleft sternum into complete or partial (superior, medium, inferior) with a simple superior partial cleft sternum being by far the most common with an orthotopic heart, intact pericardium, and normal skin coverage...
November 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29029959/ldt-classification-and-therapeutic-strategy-of-congenital-body-wall-defects
#12
Shun Wu, Ke Guo, Peng Xiao, Jiaming Sun
BACKGROUND: Repairing body wall defects is a critical step in the treatment of some congenital deformities, and this procedure may need the help from plastic surgeons. Although there are many articles about congenital deformities, body wall defects of these malformations are rarely studied as independent targets. METHODS: In this article, the authors present an LDT classification for congenital body wall defects according to the position of the defects, the tissue layers involved, and the surgical urgency, each of which is represented by letters L, D, and T, respectively...
September 19, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28980090/isolated-sulfite-oxidase-deficiency
#13
Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Marie-Rose Van Hoestenberghe, Jeroen Breckpot, Pieter Vermeersch
Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cystine, total homocysteine, uric acid, and oxypurines in urine] and radiological findings (including cerebral/cerebellar atrophy, cystic white matter changes, ventriculomegaly)...
October 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28969201/crossed-fused-ectopic-kidney-a-case-report
#14
Rohit Bhattar, Anuradha Maheshwari, Vinay Tomar, Sher Singh Yadav
Crossed fused ectopic kidney is an unusual congenital malformation of the urinary tract. This condition is usually identified in the autopsy specimen rather than in general clinical scenario. In this condition, both kidneys are located on one side of the midline and are fused with each other. This condition is generally asymptomatic and usually diagnosed as incidental finding. We came across a case of crossed fused left to right ectopia with inferior infusion with nephroptosis. Generally, in cases of crossed fused renal ectopia, one kidney is lower than the other one but in our report, both kidneys were present at the same level...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28963593/retropharyngeal-parathyroid-glands-important-differences
#15
James W Gallagher, Meghan L Kelley, Linwah Yip, Sally E Carty, Kelly L McCoy
INTRODUCTION: In primary hyperparathyroidism (PHPT), parathyroid ectopia is seen in up to 22% leading to more difficult surgery. We aimed to determine the rate and characteristics of retropharyngeal (RP) parathyroid glands. METHODS: A prospective database was queried for patients with sporadic PHPT who had surgery from 1997 to 2016. The data of RP patients were compared to those who had surgery for sporadic PHPT over the same time period with hyperfunctioning parathyroids in anatomically normal positions (N)...
September 28, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28957955/opacification-of-scleral-sutured-akreos-ao60-intraocular-lens-after-vitrectomy-with-gas-tamponade-case-series
#16
Ananda Kalevar, Michael Dollin, R Rishi Gupta
BACKGROUND/PURPOSE: We report the first two cases of postoperative opacification of scleral-sutured Akreos AO60 intraocular lens after vitrectomy with the gas tamponade. METHODS: Two patients with ectopia lentis underwent pars plana vitrectomy, pars plana lensectomy, and scleral fixation of an Akreos AO60 intraocular lens with Gore-Tex suture. Retinal breaks were noted during vitrectomy and consequently intravitreal gas tamponade was used after endolaser retinopexy...
September 27, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28941062/a-cohort-study-of-multiple-families-with-fbn1-p-r650c-variant-ectopia-lentis-and-low-but-not-absent-risk-for-aortopathy
#17
Lohith Vatti, Sara M Fitzgerald-Butt, Kim L McBride
Marfan syndrome is a multisystem disease with cardiovascular, ophthalmologic, and skeletal features. Diagnosis is made clinically with emphasis on presence of aortic root dilation and ectopia lentis (EL). Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2-78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28937010/ectopia-lentis-and-blue-sclera-in-hyperhomocysteinaemia
#18
Anubha Rathi, Brijesh Takkar, Shorya Azad
No abstract text is available yet for this article.
May 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28933802/invesigation-of-prevalence-of-dental-anomalies-by-using-digital-panoramic-radiographs
#19
Nebiha Hilal Bilge, Selin Yeşiltepe, Kübra Törenek Ağırman, Fatma Çağlayan, Osman Murat Bilge
BACKGROUND: This study was performed to evaluate the prevalence of all types and subtypes of dental anomalies among 6 to 40 year-old patients by using panoramic radiographs. MATERIALS AND METHODS: This cross-sectional study was conducted by analyzing digital panoramic radiographs of 1200 patients admitted to our clinic in 2014. Dental anomalies were examined under 5 types and 16 subtypes. Dental anomalies were divided into five types: (a) number (including hypodontia, oligodontia and hyperdontia); (b) size (including microdontia and macrodontia); (c) structure (including amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia); (d) position (including transposition, ectopia, displacement, impaction and inversion); (e) shape (including fusion-gemination, dilaceration and taurodontism); RESULTS: The prevalence of dental anomalies diagnosed by panoramic radiographs was 39...
September 21, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28931008/biometric-and-structural-ocular-manifestations-of-marfan-syndrome
#20
Petra Gehle, Barbara Goergen, Daniel Pilger, Peter Ruokonen, Peter N Robinson, Daniel J Salchow
BACKGROUND: To study biometric and structural ocular manifestations of Marfan syndrome (MFS). METHODS: Observational, retrospective, comparative cohort study in a tertiary referral center on 285 MFS patients and 267 controls. Structural and biometric ocular characteristic were compared. RESULTS: MFS eyes were longer (axial length 24.25 ± 1.74 mm versus 23.89 ± 1.31 mm, p < 0.001) and had a flatter cornea than control eyes (mean keratometry 41...
2017: PloS One
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