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https://www.readbyqxmd.com/read/29336629/pupillary-manifestations-of-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#1
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-keratolenticular-dysgenesis-and-ectopia-lentis
#2
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...
January 2, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29285121/persistent-m%C3%A3-llerian-duct-syndrome-a-case-report-and-review
#3
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
#4
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
https://www.readbyqxmd.com/read/29230941/a-child-with-myhre-syndrome-presenting-with-corectopia-and-tetralogy-of-fallot
#5
Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti-Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti-Pierri
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29204238/crossed-fused-renal-ectopia-case-report-and-review-of-the-literature
#6
Anna Mudoni, Francesco Caccetta, Maurizio Caroppo, Fernando Musio, Antonella Accogli, Maria Dolores Zacheo, Maria Domenica Burzo, Vitale Nuzzo
Crossed fused renal ectopia is a rare congenital anomaly, and is mostly detected incidentally. A 45-year-old man, during investigation for recurrent abdominal pain, was found to have an empty left renal fossa and right crossed renal ectopia with fusion on ultrasonography. In the present case, there were no abnormalities and/or alteration of the renal function. Abdominal tomography scan with contrast medium confirmed the diagnosis. Ectopic kidney is often associated with other abnormal situations such as agenesis, vascular malformation, incontinence, a palpable abdominal mass, urinary tract infection, high incidence of stone formation, and genital anomalies...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29201529/a-rare-case-of-lobulated-complete-renal-fusion-with-multiple-hila-and-vasculature
#7
L C Prasanna, Aparna Varma, Huban R Thomas, Antony Sylvan Dsouza
Complete renal fusion without crossed renal ectopia denotes the medial fusion of the renal parenchyma (with or without changes in the microarchitecture) in the pelvis with anteriorly placed short ureters terminating into the bladder. This could be due to the failure of renal analgen to ascent, lateral migration, axial rotation, and persistence of primitive vascular supply. Though remain asymptomatic such cases warrant concomitant congenital anomalies of other organ systems as well as the microarchitecture changes in the renal parenchyma...
December 2017: Turkish Journal of Urology
https://www.readbyqxmd.com/read/29192861/ectopic-brain-tissue-in-the-trigeminal-nerve-presenting-as-rapid-onset-trigeminal-neuralgia-case-report
#8
Jeffrey H Zimering, Jonathan J Stone, Audrey Paulzak, John D Markman, Mahlon D Johnson, G Edward Vates
The authors report the case of a 52-year-old man who presented with rapid-onset lancinating facial pain consistent with trigeminal neuralgia. Magnetic resonance imaging revealed a nonenhancing small lesion on the right trigeminal nerve concerning for an atypical schwannoma or neuroma. The patient underwent resection of the mass via a right retrosigmoid approach. His facial pain completely resolved immediately postoperatively and had not recurred at 6 months after surgery. The mass was consistent with normal brain tissue (neurons and glial cells) without evidence of mitoses...
December 1, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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