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Situs inversus

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https://www.readbyqxmd.com/read/28640129/vacter-syndrome-with-situs-inversus-totalis-case-report-and-a-new-syndrome
#1
Wei Wu, Zhibao Lv, Weijue Xu, Jiangbing Liu, Wei Jia
INTRODUCTION: The association of situs inversus totalis (SIT) and VACTERL syndrome an extremely rare coincidence. PATIENTS: The patient was first diagnosed as simple SIT with lumbosacral neoplasms according to the prenatal magnetic resonance imaging (MRI) examination; however, the local hospital ignored the important to physical examination so that missed anal atresia with fistula. The patient was presented to our hospital owing to constipation for 1 week. And then, she was diagnosed as VACTER syndrome with situs inversus totalis...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#2
Michal Gur, Enbal Ben-Tal Cohen, Olga Genin, Abraham Fainsod, Zeev Perles, Yuval Cinnamon
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a consanguineous family of Arab-Muslim origin with two affected siblings presenting with diverse phenotypes, one with heterotaxy syndrome and the other with non-primary ciliary dyskinesia situs inversus totalis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28616378/primary-ciliary-dyskinesia-presenting-with-spontaneous-pneumothorax-case-report-and-review-of-the-literature
#3
Jia Hou, Yanan Zhang, Ri Gong, Xiwei Zheng, Xia Yang
BACKGROUND: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings. CASE PRESENTATION: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-sided chest pain. The patient had 6 years primary infertility and suffered from recurrent episodes of respiratory tract infections since childhood. Chest X-ray was performed, which showed a left-sided pneumothorax with lung collapse...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28614170/implications-of-left-sided-gallbladder-in-the-emergency-setting-retrospective-review-and-top-tips-for-safe-laparoscopic-cholecystectomy
#4
Hariscine K Abongwa, Belinda De Simone, Laura Alberici, Maurizio Iaria, Gennaro Perrone, Antonio Tarasconi, Gianluca Baiocchi, Nazario Portolani, Salomone Di Saverio, Massimo Sartelli, Federico Coccolini, Jennifer E Manegold, Luca Ansaloni, Fausto Catena
BACKGROUND: Left-sided gallbladder without situs viscerum inversus (LSG-woSVI) is a rare congenital anomaly. Clinical features and routine presurgical imaging could miss the anomalous position, thereby producing complications during surgery. Laparoscopic cholecystectomy can be performed safely, but the risk of bile duct injury (BDI) is greater than in cholecystectomy of the orthotopic gallbladder. We present a retrospective review of all scientific literature for diagnosed cases of LSG-woSVI undergoing cholecystectomy from 1996 to 2014...
June 13, 2017: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
https://www.readbyqxmd.com/read/28610820/mandibular-symphyseal-midline-distraction-osteogenesis-for-micrognathia-associated-with-aglossia-and-situs-inversus-totalis
#5
X C Ren, Y F Li, Y Liu, S S Zhu
Aglossia is a rare congenital abnormality, often associated with micrognathia and limb defects. Situs inversus totalis is also a rare congenital abnormality, defined as a mirror-image reversal of all the asymmetric organs of the thorax and abdomen. The concurrence of these two abnormalities has only been reported in eight similar cases in the literature. Although micrognathia and malocclusion were observed in all of these cases, few treatments were performed for the patients' dentofacial deformities. This report describes the case of a 7-year-old boy suffering from micrognathia, aglossia, and situs inversus totalis simultaneously, and the treatment for his micrognathia by mandibular symphyseal midline distraction osteogenesis, guided by virtual surgical planning and a three-dimensional printed surgical template...
June 10, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28578896/severe-aortic-stenosis-in-dextrocardia-with-situs-invertus-and-anomalous-single-coronary-ostium-treated-with-transcatheter-aortic-valve-replacement
#6
Abdulah Alrifai, Mohamad Kabach, Lawrence Lovitz, Mark Rothenberg, Marcos Nores, Zaher Fanari
Dextrocardia with situs inversus presents a unique anatomy with right-sided vascular system that may be associated with a number of additional cardiac and vascular malformations. A rare association is the presence of a single coronary artery ostium. To our knowledge, this is the first reported case of transcatheter aortic valve replacement using Edwards SAPIEN S3 valve in Dextrocardia patient with single coronary artery take off.
May 8, 2017: Cardiovascular Revascularization Medicine: Including Molecular Interventions
https://www.readbyqxmd.com/read/28567619/malignant-duodenal-gist-in-a-patient-with-situs-inversus-totalis-a-rare-association-and-brief-review-of-literature
#7
Manoj Thillai, Naveen Alexander, Surendran Paramasivam, Arun Ezhil, Niranjan Raj, Abilash Kumar, Ashwanth Reddy, Pulkit Sethi
No abstract text is available yet for this article.
June 1, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28567452/laparoscopic-cholecystectomy-in-a-case-of-situs-inversus-totalis-a-review-of-technical-challenges-and-adaptations
#8
Azhar Alam, Abhijit Santra
Situs inversus totalis is a rare congenital condition, characterized by the transposition of the thoracic and abdominal viscera, resulting in a mirror image of normal anatomy. Even though situs inversus does not predispose to gall stones, a laparoscopic cholecystectomy, in a case of situs inversus, can prove to be a technically challenging procedure, especially for the right-handed surgeon. In this case report, we present an unusual case of cholelithiasis in a patient with situs inversus totalis. A laparoscopic cholecystectomy, which is considered the gold standard procedure for symptomatic gallstones, was performed...
May 2017: Annals of Hepato-Biliary-Pancreatic Surgery
https://www.readbyqxmd.com/read/28560525/how-do-i-do-a-laparoscopic-one-anastomosis-gastric-bypass-in-a-patient-with-situs-inversus-totalis
#9
Radwan Kassir, Farouk Mourthadhoi, Olivier Tiffet, Patrice Lointier
No abstract text is available yet for this article.
May 30, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28559696/the-determination-factors-of-left-right-asymmetry-disorders-a-short-review
#10
REVIEW
Andreea Catana, Adina Patricia Apostu
Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/28555457/-situs-inversus-of-the-optic-nerve-a-case-report
#11
I Lopez-Cuenca, R de Hoz, E Salobrar-Garcia, B Rojas, A I Ramirez, J J Salazar, A Trivino, J M Ramirez
INTRODUCTION: Situs inversus of the optic nerve is a congenital anomaly characterised by the emergence of the vessels in the retina towards the nose rather than in a temporal direction. It is caused by an anomalous insertion of the optic stalks into the optic vesicle that gives rise to dysversion of the head of the optic nerve. It is not an isolated condition and usually appears jointly with tilted disc syndrome and in patients with myopia. It is characterised by the presence of inferior conus atrophy, deficiencies in the temporal visual field, refraction defects and ambliopy...
June 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28543983/mutation-of-serine-threonine-protein-kinase-36-stk36-causes-primary-ciliary-dyskinesia-with-a-central-pair-defect
#12
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich, Joseph Rivlin, Julia Wallmeier, Petra Pennekamp, Israel Amirav, Heymut Omran
Primary ciliary dyskinesia (PCD) is a genetic condition of impaired ciliary beating, characterized by chronic infections of the upper and lower airways and progressive lung failure. Defects of the outer dynein arms are the most common cause of PCD. In about half of the affected individuals, PCD occurs with situs inversus (Kartagener syndrome). A minor PCD subgroup including defects of the radial spokes (RS) and central pair (CP) is hallmarked by the absence of laterality defects, subtle beating abnormalities, and unequivocally apparent ultrastructural defects of the ciliary axoneme, making their diagnosis challenging...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28513106/cholecystitis-in-situs-inversus-totalis
#13
Nicolas J Copertino, David Grieve
No abstract text is available yet for this article.
May 16, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28503239/a-case-of-renal-cell-carcinoma-in-a-patient-with-situs-inversus-operative-considerations-and-a-review-of-the-literature
#14
Justin Oake, Darrel Drachenberg
Situs inversus, an uncommon mirror-image reversal of the major visceral and thoracic organs, is seldom of medical significance. However, the recognition of their unique anatomy is extremely important for those requiring surgical intervention. There are very few reported cases of renal cell carcinoma (RCC) developing in people with situs inversus. To our knowledge, this is the first reported case in Canada. A review of the literature only identified nine published cases worldwide. Here, we review and summarize pertinent information, including patient age and sex, size and location of tumour, method of surgery, and pathology...
May 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28479887/long-term-outcome-of-tunisian-children-with-primary-ciliary-dyskinesia-confirmed-by-transmission-electron-microscopy
#15
Hamouda Samia, Boussetta Khadija, Hamzaoui Agnes, Khalsi Fatma, Trabelsi Ines, Jaafoura Hafedh, Tinsa Faten
BACKGROUND: Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable. OBJECTIVE: To study the long-term outcome of PCD in Tunisian children with ciliary ultra-structure defects detected by electron microscope. METHODS: Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD (other ciliary ultra-structure defects)...
December 2016: African Health Sciences
https://www.readbyqxmd.com/read/28475963/variable-expressivity-of-tctex1d2-mutations-and-a-possible-pathogenic-link-of-molar-incisor-malformation-to-ciliary-dysfunction
#16
Johannes Zschocke, Anna Schossig, Dieter D Bosshardt, Daniela Karall, Rudolf Glueckert, Ines Kapferer-Seebacher
OBJECTIVE: Clarification of the molecular basis of a ciliopathy associated with molar-incisor malformation in a consanguineous Turkish family. DESIGN: Full dental and clinical examinations, histologic analysis, comprehensive genetic analyses including exome sequencing, ciliary function tests and transmission electron microscopy of ciliary biopsies in the surviving patient. RESULTS: Two siblings had situs inversus and complex heart defects suggestive of ciliary dysfunction...
August 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28462889/radiofrequency-pulmonary-vein-isolation-in-a-patient-with-dextrocardia-with-situs-inversus-totalis
#17
John Meulet, Geoffrey Trim, Ben Hunt, Kang-Teng Lim, Andrew James, Albert Henry, Wayne Pirihi, Paul Davies, Jason Brabant
BACKGROUND: We present a case report of a 67-year-old male with dextrocardia situs inversus totalis and persistent atrial fibrillation who presented for radiofrequency pulmonary vein isolation. METHODS: Pulmonary vein isolation was performed using the St Jude Medical Ensite NavX 3D mapping system with AccuNav ICE guidance. RESULTS: All pulmonary veins were successfully isolated. The procedure time was 125 mins with a fluoroscopy time of 44...
November 19, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28458815/laparoscopic-cholecystectomy-for-gallstone-pancreatitis-in-a-patient-with-situs-inversus-totalis
#18
Angela E E Fanshawe, Kamran Qurashi
We present the case of a 53-year-old lady with acute gallstone pancreatitis and situs inversus totalis, who underwent emergency laparoscopic cholecystectomy. We describe our operative approach for this challenging anatomy and discuss the advantages our particular technique confers with reference to the current literature.
February 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28447062/modified-palliative-biliary-stenting-in-situs-inversus-totalis-patient-with-carcinoma-gallbladder-feasibility-and-technical-details
#19
Nishant Gupta, Pradeep Goyal, Itisha Bansal, Shuo Li, Yogesh Kumar, Sanjay S Baijal
Knowledge of the anatomical variants is essential for all invasive hepatobiliary procedures such as endoscopy, surgery and radiologic interventions. Modification in standard therapeutic interventions may be required based on variant anatomy. We report a technical modification in a 75-year-old female with known situs inversus (SI) totalis with carcinoma gallbladder. Present case highlights the finer technical details of the modified percutaneous transhepatic biliary drainage (PTBD) procedure and biliary stenting in a SI patient with carcinoma gallbladder causing malignant biliary obstruction...
2017: Translational Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28427402/fluorescence-cholangiography-during-laparoscopic-cholecystectomy-in-a-patient-with-situs-inversus-totalis-a-case-report-and-literature-review
#20
Narongsak Rungsakulkij, Pongsatorn Tangtawee
BACKGROUND: Situs inversus totalis is a rare autosomal disorder in which the patient's affected visceral organs are a perfect mirror image of their normal positions. Surgery in these patients is technically challenging. Minimally invasive surgery such as laparoscopic cholecystectomy is the standard treatment for symptomatic cholelithiasis, but it can be difficult to perform. Laparoscopic cholecystectomy in patients with situs inversus totalis may be even more technically challenging. Fluorescence cholangiography is a new innovation in the field of navigation surgery...
April 20, 2017: BMC Surgery
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