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https://www.readbyqxmd.com/read/27895945/congenital-renal-fusion-and-ectopia-in-the-trauma-patient
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/27826344/clinical-characteristics-of-marfan-syndrome-in-korea
#5
A Young Lim, Ju Sun Song, Eun Kyoung Kim, Shin Yi Jang, Tae-Young Chung, Seung-Hyuk Choi, Kiick Sung, June Huh, I-Seok Kang, Yeon Hyeon Choe, Chang-Seok Ki, Duk-Kyung Kim
BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27778219/guidelines-for-the-diagnosis-and-management-of-cystathionine-beta-synthase-deficiency
#6
Andrew A M Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg I M Ben-Omran, Anupam B Chakrapani, Ellen Crushell, Mick J Henderson, Michel Hochuli, Martina Huemer, Miriam C H Janssen, Francois Maillot, Philip D Mayne, Jenny McNulty, Tara M Morrison, Helene Ogier, Siobhan O'Sullivan, Markéta Pavlíková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J Blom, Kimberly A Chapman
Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine...
October 24, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27765586/a-case-of-chromosomal-disorders-of-sex-development-with-transverse-testicular-ectopia-mimicking-mixed-gonadal-dysgenesis
#7
Fumi Matsumoto, Futoshi Matsui, Koji Yazawa, Kenji Shimada
No abstract text is available yet for this article.
October 17, 2016: Urology
https://www.readbyqxmd.com/read/27743249/the-association-between-the-pulse-pressure-gradient-at-the-cranio-cervical-junction-derived-from-phase-contrast-magnetic-resonance-imaging-and-invasively-measured-pulsatile-intracranial-pressure-in-symptomatic-patients-with-chiari-malformation-type-1
#8
Radek Frič, Erika Kristina Lindstrøm, Geir Andre Ringstad, Kent-André Mardal, Per Kristian Eide
BACKGROUND: In symptomatic Chiari malformation type 1 (CMI), impaired intracranial compliance (ICC) is associated with an increased cranio-spinal pulsatile pressure gradient. Phase-contrast magnetic resonance imaging (MRI) represents a non-invasive modality for the assessment of the pulse pressure gradient at the cranio-cervical junction (CCJ). We wished to explore how the MRI-derived pulse pressure gradient (MRI-dP) compares with invasively measured pulsatile intracranial pressure (ICP) in CMI, and with healthy controls...
October 14, 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27725890/interdisciplinary-management-of-maxillary-canine-buccal-ectopia-associated-with-peg-shaped-lateral-incisor
#9
Karuna Singh Sawhny, Asheesh Sawhny
Aligning a displaced maxillary canine into the dental arch is one of the most complicated problems in orthodontics. In cases of extremely high displacement, the tooth is frequently removed surgically. Because of the upper canines' significance to dental esthetics and functional occlusion, such a decision is a very serious one. The purpose of this report is to illustrate an interdisciplinary approach involving both orthodontic management and conservative tooth restoration. The case was treated through an orthodontic nonextraction fixed appliance mechanotherapy for successful alignment of buccally ectopic upper left canine followed by a conservative direct composite tooth buildup of peg lateral incisor associated with the upper left ectopic canine in a 16-year-old adolescent North Indian female...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27722828/structural-brain-anomalies-in-healthy-adolescents-in-the-ncanda-cohort-relation-to-neuropsychological-test-performance-sex-and-ethnicity
#10
Edith V Sullivan, Barton Lane, Dongjin Kwon, M J Meloy, Susan F Tapert, Sandra A Brown, Ian M Colrain, Fiona C Baker, Michael D De Bellis, Duncan B Clark, Bonnie J Nagel, Kilian M Pohl, Adolf Pfefferbaum
Structural MRI of volunteers deemed "normal" following clinical interview provides a window into normal brain developmental morphology but also reveals unexpected dysmorphology, commonly known as "incidental findings." Although unanticipated, these anatomical findings raise questions regarding possible treatment that could even ultimately require neurosurgical intervention, which itself carries significant risk but may not be indicated if the anomaly is nonprogressive or of no functional consequence. Neuroradiological readings of 833 structural MRI from the National Consortium on Alcohol and NeuroDevelopment in Adolescence (NCANDA) cohort found an 11...
October 8, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27709371/visual-outcomes-after-lensectomy-and-iris-claw-artisan-intraocular-lens-implantation-in-patients-with-marfan-syndrome
#11
Hossein Mohammad Rabie, Parviz Malekifar, Mohammad Ali Javadi, Danial Roshandel, Hamed Esfandiari
PURPOSE: To review our experience with crystalline lens extraction and iris claw Artisan IOL implantation in patients with lens subluxation secondary to Marfan syndrome. METHODS: A retrospective analysis of 12 eyes of 9 patients with lens subluxation due to Marfan syndrome who underwent crystalline lens removal and Artisan IOL (Ophtec, Groningen, Netherlands) implantation. A questionnaire of pre- and post-operative data, including demographics, pre- and postoperative comorbidities and complications was completed...
October 5, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27697459/hematospermia-as-a-rare-form-of-presentation-of-zinner-syndrome
#12
Nelson Canales-Casco, Alejandro Dominguez-Amillo, Miguel Angel Arrabal-Polo, Francisco Javier Sanchez-Tamayo, Miguel Arrabal-Martin, Jose Manuel Cozar-Olmo
A 17-year-old male was referred to the Urology department for hematospermia after initiation of sexual relationship. An MRI scan showed giant dilation of a multi-cystic left seminal vesicle with left renal agenesis. These findings are typical of the Zinner syndrome. In 70-80% of the cases when renal agenesis is found, there is an ipsilateral cystic dilation of the seminal vesicle that in some cases may be associated with testicular ectopia or absence of the bladder trigone. The ejaculatory ducts, which are formed from the mesonephric system, are abnormally developed in this cases...
September 30, 2016: Urology
https://www.readbyqxmd.com/read/27689123/cross-fused-renal-ectopia-associated-with-vesicoureteral-reflux-a-case-report
#13
Mitra Naseri
Crossed renal ectopia is a rare urinary system anomaly which mostly is asymptomatic and is diagnosed incidentally. Urinary obstruction, infection, and neoplasia of the urinary system and nephrolithiasis are main complications of this anomaly. A 6-year-old boy admitted to the hospital with colicky abdominal pain and nausea. Abdominal examination revealed tenderness in right lower quadrant. Urine analysis and culture were normal. Kidney ultrasonography showed right kidney in pelvis cavity with no kidney tissue in left side...
2016: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/27668105/subdiaphragmatic-renal-ectopia-case-report-and-review-of-the-literature
#14
Eleftherios Zolotas, Rajesh G Krishnan
Background. We report the case of a male infant whose right kidney migrated to an ectopic position after birth. The migration of a kidney in postnatal life without any symptoms has not been reported in literature so far. Case Presentation. In a series of antenatal and the first postnatal ultrasound scans, the right kidney was normally located within the right renal fossa. During the first 3 months of life, the kidney migrated to a subdiaphragmatic position. This was confirmed on MRI scan. The infant was asymptomatic with normal renal function and blood pressure...
2016: Case Reports in Nephrology
https://www.readbyqxmd.com/read/27661267/successful-repair-of-iatrogenic-ureteral-injury-in-a-patient-with-ectopic-crossed-and-fused-right-kidney-by-ureteroureterostomy
#15
N Gabunia, Iv Rodionov, T Chigogidze
Congenital renal malformations are the most common congenital malformations in humans, the most common being horseshoe kidney with joined lower poles present in up to 0.25% of general population. To the contrary renal fusions with ectopia are amongst the rare malformations affecting 1 in 2000 examined cadavers. Males are affected slightly more often then females (3:2), left to right crosses being more frequent. The value of early diagnosis of asymptomatic renal malformation is uncertain, except when other abnormalities might point to them and they can affect the clinical management strategy (severe ear deformity with facial malformation, gynecological abnormalities)...
July 2016: Georgian Medical News
https://www.readbyqxmd.com/read/27647079/bilateral-single-system-ectopic-ureter-with-urolithiasis-a-rare-case-entity
#16
Ankur Bansal, Manoj Kumar, Ashok Sokhal, Bimalesh Purkait, Gautam Kanodia
ABSTRACTBilateral single system ureteral ectopia (BSSEU) is an uncommon entity. Ureteric calculi in BSSEU are never reported so far. We herein report a case of BSSEU with left lower urtereic calculi managed by bilateral ureteric tapering and reimplantation with stone removal.
November 18, 2016: Urologia
https://www.readbyqxmd.com/read/27630877/congenital-aniridia-with-ectopia-lentis
#17
Rakhi Kusumesh, Anita Ambastha
No abstract text is available yet for this article.
July 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27594942/diagnostic-evaluation-of-a-case-of-lingual-thyroid-ectopia
#18
Valeria Fiaschetti, Giulia Claroni, Angela Lia Scarano, Orazio Schillaci, Roberto Floris
Thyroid ectopia can occur when the process of thyroid embryogenesis fails. Here, we present the case of a 30-year-old woman with thyroid ectopia that was discovered during magnetic resonance imaging of cervical spine for referred neck pain. Imaging revealed the presence of an encapsulated mass at the base of her tongue. The patient was not symptomatic for any compression of the airways. Diagnosis of ectopic lingual thyroid was confirmed by (99m)TC scintigraphy. Incidental diagnosis of thyroid ectopia in asymptomatic adult patients is rare, and it should be considered on diagnostic imaging in case of an anterior midline cervical mass...
September 2016: Radiology case reports
https://www.readbyqxmd.com/read/27554626/mass-in-solitary-intra-thoracic-kidney-within-bochdalek-hernia
#19
Pranav Sharma, Robert J Keenan, Wade J Sexton
Bochdalek hernia is a congenital defect in the diaphragm posterolaterally that allows abdominal contents to enter the thorax. Herniation and development of an intra-thoracic kidney associated with this condition is uncommon with an incidence less than 0.25%. Intra-thoracic kidney is also the rarest form of renal ectopia, consisting of less than 5% of cases. We present a series of images from a case of a 55 year-old female with a right renal mass suspicious for malignancy in a solitary right intra-thoracic kidney within Bochdalek hernia who underwent an open right partial nephrectomy for definitive diagnosis and treatment...
August 20, 2016: Urology
https://www.readbyqxmd.com/read/27553796/prevertebral-cervical-approach-a-pure-endoscopic-surgical-technique-for-posterior-mediastinum-parathyroid-adenomas
#20
Juan Manuel Martos-Martínez, Cristina Sacristán-Pérez, Marina Pérez-Andrés, Virginia María Durán-Muñoz-Cruzado, Verónica Pino-Díaz, Francisco Javier Padillo-Ruiz
BACKGROUND: Parathyroid gland mediastinal ectopia is an unusual but challenging condition in surgical management of hyperparathyroidism. Posterior mediastinum parathyroid ectopia is rare, and glands need to be removed either with a broad open cervical or thoracic approach. In recent years, several minimally invasive approaches to mediastinal parathyroid glands have been described, but for posterior mediastinum adenomas, proposed techniques are transthoracic. METHODS: The aim of this paper is to describe, to our best knowledge for the first time, a standardized pure endoscopic cervical technique to approach posterior mediastinal parathyroid adenomas which we have used in three patients...
August 23, 2016: Surgical Endoscopy
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