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https://www.readbyqxmd.com/read/28094762/persistent-mullerian-duct-syndrome-with-transverse-testicular-ectopia-a-novel-amh-receptor-mutation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27917664/abdominal-wall-ectopic-testis-torsion-mimicking-a-spigelian-hernia-in-an-adult
#12
M Natarajan, H M Alnajjar, C I Woodward, M Tshuma, T Marshall, M Rochester
We report an unusual case of an ectopic testis identified in a 37-year-old man presenting with acute severe right iliac fossa pain and an irreducible mass. Initially diagnosed as a Spigelian hernia, computed tomography and ultrasonography identified the presence of an ectopic testis in the abdominal wall. Interparietal testicular ectopia is an extremely rare condition. We present and discuss the first case in the literature of an ectopic testis located between the internal and external oblique muscle layers of the anterior abdominal wall in an adult...
December 5, 2016: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/27916859/postnatal-gene-therapy-improves-spatial-learning-despite-the-presence-of-neuronal-ectopia-in-a-model-of-neuronal-migration-disorder
#13
Huaiyu Hu, Yu Liu, Kevin Bampoe, Yonglin He, Miao Yu
Patients with type II lissencephaly, a neuronal migration disorder with ectopic neurons, suffer from severe mental retardation, including learning deficits. There is no effective therapy to prevent or correct the formation of neuronal ectopia, which is presumed to cause cognitive deficits. We hypothesized that learning deficits were not solely caused by neuronal ectopia and that postnatal gene therapy could improve learning without correcting the neuronal ectopia formed during fetal development. To test this hypothesis, we evaluated spatial learning of cerebral cortex-specific protein O-mannosyltransferase 2 (POMT2, an enzyme required for O-mannosyl glycosylation) knockout mice and compared to the knockout mice that were injected with an adeno-associated viral vector (AAV) encoding POMT2 into the postnatal brains with Barnes maze...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27914124/atypical-neonatal-marfan-syndrome-with-p-glu1073lys-mutation-of-fbn1-the-first-case-in-korea
#14
Ju Sun Heo, Joo Young Song, Eun Young Choi, Eun Hee Kim, Ji Hee Kim, So Eun Park, Ji Hyun Jeon
Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27909497/persistent-atrial-fibrillation-and-atrial-flutter-complicated-by-tachycardiomyopathy-because-of-intermittent-conduction-through-accessory-pathway
#15
L Valeri, A Coppolino, G Rossetti, A Vado, G Amoroso, G Bricco, A Battisti, L Correndo, S Dogliani, A Magliarditi, D Pancaldo, M De Benedictis, A Bassignana, B Doronzo
The term tachycardiomyopathy refers to a specific form of tachycardia-related cardiomyopathy caused by supraventricular or ventricular tachyarrhytmias that are both associated with ventricular rates higher than 120 bpm. The arrhythmias which are most frequently associated with these forms of heart disease are atrial fibrillation and atrial flutter, particularly found in the elderly population. The most frequent clinical manifestation is heart failure. In this case we are reporting a clinical case of a patient that came to our attention because of an episode of heart failure associated with atrial fibrillation and atrial flutter...
April 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27908908/double-trouble-pelvi-ureteric-junction-obstruction-and-renal-cell-carcinoma-in-right-to-left-crossed-fused-ectopia
#16
Sumit Saini, Siddharth Yadav, Brusabhanu Nayak
Crossed renal ectopia is a rare occurrence. The majority of the crossed units are fused to their ipsilateral mate. Pelvi-ureteric junction obstruction (PUJO) in crossed fused moieties has been reported very rarely. Similarly, malignancy arising in the crossed over moieties is a rare occurrence too. Only a few cases have been reported earlier. We are here reporting an unusual case with coexistent PUJO and renal cell carcinoma in the crossed over moiety of right to left crossed fused ectopia. To the best of our knowledge, this is the first reported case with both these pathologies, coexisting, in the crossed over moiety...
December 1, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27895945/congenital-renal-fusion-and-ectopia-in-the-trauma-patient
#17
Andrew A Rosenthal, Jordan J Ditchek, Seong K Lee, Rafael Sanchez, Chauniqua Kiffin, Dafney L Davare, Eddy H Carrillo
We present two separate cases of young male patients with congenital kidney anomalies (horseshoe and crossed fused renal ectopia) identified following blunt abdominal trauma. Despite being rare, ectopic and fusion anomalies of the kidneys are occasionally noted in a trauma patient during imaging or upon exploration of the abdomen. Incidental renal findings may influence the management of traumatic injuries to preserve and protect the patient's renal function. Renal anomalies may be asymptomatic or present with hematuria, flank or abdominal pain, hypotension, or shock, even following minor blunt trauma or low velocity impact...
2016: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/27895452/laparoscopically-assisted-treatment-of-transverse-testicular-ectopia-with-persistent-m%C3%A3-llerian-duct-syndrome-a-case-report-and-review-of-the-literature
#18
I Valioulis, V Simaioforidis, K Syllas
BACKGROUND: Transverse testicular ectopia coexisting with persistent Müllerian duct syndrome is a rare malformation and evidence regarding the optimal treatment of these patients is still unclear. Description of the case: We present the case of a 4-month-old boy in whom laparoscopy was utilized for the surgical correction of transverse testicular ectopia and excision of Müllerian remnants. CONCLUSION: Based on current literature and the presented case, we support that laparoscopy is a feasible and safe procedure in patients with transverse testicular ectopia and persistent Müllerian duct syndrome...
January 2016: Hippokratia
https://www.readbyqxmd.com/read/27857798/not-all-cases-of-nyctalopia-are-benign-unusual-and-serendipitous-presentation-of-arnold-chiari-type-1-malformation-at-a-pediatric-tertiary-care-center
#19
Kailash Chandra Patra, Abhijeet Prakash Kirtane
The Arnold-Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27843218/transverse-testicular-ectopia-with-a-blind-ending-vas-deferens
#20
Anjan Kumar Dhua, Abhimanyu Varshney, Veereshwar Bhatnagar
Transverse testicular ectopia (TTE) is an uncommon anomaly of testicular descent. Herein, we describe a case of TTE with blindly ending vas and persistent Mόllerian duct syndrome in a 2-year-old child. Orchidopexy could be done through the normal orthotopic route after separating it from the Mόllerian structure and dividing the peritoneal fold just distal to the blindly ending vas. The report highlights that laparoscopy is useful for identifying subtle anomalies in addition to its therapeutic role.
October 2016: Indian Journal of Urology: IJU: Journal of the Urological Society of India
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