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Klippel trenaunay

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https://www.readbyqxmd.com/read/29774401/high-levels-of-serum-sclerostin-and-dkk1-in-a-case-of-klippel-tr%C3%A3-naunay-syndrome
#1
P Muto, A Lo Gullo, G Mandraffino, S Loddo, M Atteritano
Klippel-Trénaunay syndrome (KTS) is described as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with bone and soft tissue hypertrophy. We report a case of a 67-year-old postmenopausal Caucasian women with KTS that shows elevated levels of sclerostin and Dickkopf-related protein 1 (DKK1). Dual-energy X-ray absorptiometry (DXA) BMD T-scores at lumbar spine and femur were normal. Serum calcium and phosphorus levels were consistently normal, 25-hydroxyvitamin D (25OHD) < 30 ng/mL, and normal parathyroid hormone (PTH)...
May 17, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29773423/management-of-giant-embryonic-vein-in-klippel-tr%C3%A3-naunay-syndrome
#2
Animesh Rathore, Peter Gloviczki, Haraldur Bjarnason
Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. He was then managed surgically with preoperative placement of an inferior vena cava filter (because of a history of deep venous thrombosis and pulmonary embolism), followed by resection of the lateral embryonic vein, ligation of large perforators, and excision of smaller varicosities...
May 14, 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29697382/basal-cell-carcinoma-of-the-foot-two-case-reports-and-literature-review
#3
U Wollina, J Schönlebe, D Langner
Basal cell carcinoma (BCC) is considered the most common skin cancer in men. BCC of the foot, however, is very rare, and may occur on dorsal surface of the foot, foot sole or nail apparatus. Diagnosis is often delayed due to the location at an unusual site. We report on two patients: a 61-year-old female with an ulcerated BCC of the sole and dorsum of the foot on a leg with Klippel-Trénaunay syndrome and a 61-year-old male with an ulcerated BCC of the foot sole. Histologic tumor types were either metatypic or mixed solid and morphea-like with partial glandular infiltration...
March 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29627129/-new-nosological-and-therapeutic-perspectives-in-syndromic-vascular-malformations-with-a-vein-lymphatic-component
#4
P Henneton, S Mestre, M Nou, I Quere
Vascular malformations are poorly recognized constitutional anomalies which arises during early childhood. Several classifications tried to draw a distinction across the different entities. Recent advances in molecular biology have contributed to the update of their nosology. Syndromic vascular malformations are an example: while Klippel-Trenaunay syndrome, Proteus or CLOVES syndrome share many common features, understanding of pathological mechanism and specially the role of the PIK3/AKT/mTOR pathway enables us to rethink their classification...
April 4, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29572375/klippel-trenaunay-weber-syndrome-as-a-cause-of-chronic-thromboembolic-pulmonary-hypertension
#5
Jirat Chenbhanich, Nophol Leelayuwatanakul, Prasit Phowthongkum
No abstract text is available yet for this article.
March 22, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29518509/an-inferior-vena-cava-aneurysm-in-a-patient-with-klippel-trenaunay-syndrome
#6
Matthew Machin, Alexander Coupland, Ankur Thapar, Alun H Davies
Aneurysms of the inferior vena cava (IVC) are rare, with only 54 cases reported in the literature. They carry a significant morbidity and mortality risk. A case of an IVC aneurysm in a patient with Klippel-Trenaunay syndrome (KTS) is reported. Open aneurysmorrhaphy of the type III aneurysm was successfully performed. The patient's leg swelling, back pain, and exercise tolerance improved. IVC aneurysms are not known to be associated with KTS. However, clinicians should have a high index of suspicion for great vessel aneurysms in these patients as they are associated with greater thromboembolic risk...
March 5, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29506860/-anesthesia-for-cesarean-delivery-in-a-patient-with-klippel-trenaunay-syndrome
#7
Clara Elisa Frare de Avelar Teixeira, Angélica de Fátima de Assunção Braga, Franklin Sarmento da Silva Braga, Vanessa Henriques Carvalho, Rafael Miranda da Costa, Giselle Ioná Teixeira Brighenti
INTRODUCTION: Klippel-Trenaunay syndrome is a rare congenital vascular disease characterized by cutaneous hemangiomas, varicosities, and limb asymmetry, which may evolve with coagulation disorders and hemorrhage as more frequent complications in pregnant patients. Pregnancy is not advised in women with this syndrome due to increased obstetric risk. CASE REPORT: Female patient, 29 years old, 99kg, 167cm, BMI 35.4kg.m-2 , physical status ASA III, with 27 weeks of gestational age and diagnosis of Klippel-Trenaunay syndrome...
March 2, 2018: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/29452831/painless-urethral-bleeding-during-penile-erection-in-an-adult-man-with-klippel-trenaunay-syndrome-a-case-report
#8
Hongen Lei, Xing Guan, Hu Han, Xiaosong Qian, Xiaoguang Zhou, Xiaodong Zhang, Long Tian
INTRODUCTION: Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues. AIMS: To report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome. METHODS: On presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded...
February 13, 2018: Sexual Medicine
https://www.readbyqxmd.com/read/29396158/an-institution-wide-algorithm-for-direct-stick-embolization-of-peripheral-venous-malformations
#9
Naiem Nassiri, Lauren A Huntress, Mitchell Simon, Susan Murphy
OBJECTIVE: No standardized therapeutic algorithm or embolic agent of choice has yet been identified for management of congenital peripheral venous malformations (VMs). Treatment options and reported outcomes therefore vary widely. Herein, we present an institution-wide algorithm for management of symptomatic congenital peripheral VMs using a single embolotherapeutic modality. METHODS: During 36 months, patients with symptomatic congenital peripheral VMs underwent contrast-enhanced magnetic resonance imaging...
May 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29352118/pi3k-mtor-inhibition-promotes-the-regression-of-experimental-vascular-malformations-driven-by-pik3ca-activating-mutations
#10
Laura di Blasio, Alberto Puliafito, Paolo Armando Gagliardi, Valentina Comunanza, Desiana Somale, Giulia Chiaverina, Federico Bussolino, Luca Primo
Somatic activating mutations within the PIK3CA gene have been recently detected in sporadic lymphatic and venous malformations, and in vascular malformations (VM) associated to overgrowth syndromes, such as CLOVES and Klippel-Trenaunay syndrome. Although VM are often limited to specific tissue areas and can be well treated, in extended or recurrent lesions novel therapeutic approaches are needed. We generated a mouse model of VM by local expression of PIK3CA-activating mutation in endothelial cells. PIK3CA-driven lesions are characterized by large areas of hemorrhage, hyperplastic vessels, infiltrates of inflammatory cells, and elevated endothelial cell density...
January 19, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29280366/outcomes-of-infantile-onset-glaucoma-associated-with-port-wine-birthmarks-and-other-periocular-cutaneous-vascular-malformation
#11
Daniela Reyes-Capó, Kara M Cavuoto, Ta C Chang
PURPOSE: The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes. DESIGN: Retrospective case series. METHODS: Consecutive patients with early-onset (younger than 36 months of age) glaucoma associated with cutaneous vascular malformations from 1995‒2015 were included...
March 2018: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29244707/complicated-total-knee-arthroplasty-in-a-patient-with-klippel-trenaunay-weber-syndrome-a-case-report
#12
Elias G Joseph, Emily P Ernest, Matthew J Dietz
CASE: A 66-year-old Caucasian man with Klippel-Trenaunay-Weber syndrome (KTWS) presented with chronic changes related to the KTWS, along with worsening pain and motion associated with residual damage from an episode of spontaneous septic arthritis that occurred 1 year prior. He underwent total joint arthroplasty with a rotating hinged knee implant. CONCLUSION: Arthroplasty is a treatment option for patients with KTWS; however, there are risks that must be considered...
July 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29241638/medical-treatment-of-a-female-patient-with-complicated-klippel-trenaunay-syndrome
#13
Fang-Liang Huang, Han-Yu Chen, Te-Kau Chang
No abstract text is available yet for this article.
November 21, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29233587/combined-capillary-venous-lymphatic-malformations-without-overgrowth-in-patients-with-klippel-tr%C3%A3-naunay-syndrome
#14
Elisa Brandigi, Giovanni Torino, Mario Messina, Francesco Molinaro, Oscar Mazzei, Tommaso Matucci, Juan Carlos López Gutiérrez
OBJECTIVE: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS...
March 2018: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29231959/causal-somatic-mutations-in-urine-dna-from-persons-with-the-cloves-subgroup-of-the-pik3ca-related-overgrowth-spectrum
#15
M E Michel, D J Konczyk, K S Yeung, R Murillo, M P Vivero, A M Hall, D Zurakowski, D Adams, A Gupta, A Y Huang, B H Y Chung, M L Warman
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal (CLOVES) anomalies and Klippel-Trenaunay (KTS) syndromes are caused by somatic gain-of-function mutations in PIK3CA, encoding a catalytic subunit of phosphoinositide 3-kinase. Affected tissue is needed to find mutations, as mutant alleles are not detectable in blood. Because some patients with CLOVES develop Wilms tumor, we tested urine as a source of DNA for mutation detection. We extracted DNA from the urine of 17 and 24 individuals with CLOVES and KTS, respectively, and screened 5 common PIK3CA mutation hotspots using droplet digital polymerase chain reaction...
December 12, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29225678/pregnancy-in-women-with-klippel-trenaunay-syndrome-report-of-three-pregnancies-in-a-single-patient-and-review-of-literature
#16
Anish Keepanasseril, K Keerthana, Arun Keepanasseril, Dilip K Maurya, D Kadambari, Sharath Sistla
Klippel-Trenaunay syndrome is characterised by vascular abnormality which increases the risk of thromboembolism and haemorrhage. Physiological changes in pregnancy pose an increased risk to these complications. Being an uncommon disorder, there is limited literature about the management of women with pregnancy and Klippel-Trenaunay syndrome. We report in detail two of three pregnancies in a woman with Klippel-Trenaunay syndrome who had repeated episodes of haematochezia leading to anaemia, managed with Argon laser Photo-Coagulation in pregnancy and also reviewed the complications and the management of pregnant women with Klippel-Trenaunay syndrome...
December 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/29197023/cerebral-and-spinal-cavernomas-associated-with-klippel-trenaunay-syndrome-case-report-and-literature-review
#17
Takaya Yoshinaga, Kenji Yagi, Takashi Morishita, Hiroshi Abe, Masani Nonaka, Tooru Inoue
Klippel-Trenaunay-Weber syndrome (KTWS) involves a triad of conditions, including cutaneous hemangiomas, venous varicosities, and osseous and soft-tissue hypertrophy of the affected limb. We describe a rare case of multiple cavernomas in the central nervous system in a patient with KTWS. A-64-year-old man with KTWS and a previous brain hemorrhage presented with sudden onset of gait and vesicorectal disturbance. The magnetic resonance imaging scan showed a cavernoma associated with hemorrhage in his lumbosacral spinal cord...
February 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29069941/posterior-cerebral-artery-giant-aneurysm-associated-with-bilateral-internal-carotid-artery-occlusion-in-a-klippel-trenaunay-syndrome-patient-a-case-report
#18
Raita Fukaya, Kaoru Yanagisawa, Masahito Fukuchi, Koji Fujii
We experienced an extremely rare case of a giant P1-P2 partially thrombosed aneurysm associated with bilateral ICA occlusion in a Klippel-Trenaunay syndrome patient. In our experience, direct surgical clipping via a pterional approach is generally favored for aneurysms located in the junction of the P1-P2 segments, even if they are giant.
October 26, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29067825/phacomatosis-pigmentovascularis-simple-presentation-of-a-not-so-simple-dermatological-condition
#19
Bhargavi Kola, Mariam Mehrafza, Alex Kane
Cutaneous vascular malformations are rare disorders that are often confused with more common infantile hemangiomas. We report the case of a female infant who presented with phacomatosis pigmentovascularis type IIA with features of Klippel-Trenaunay-Weber syndrome.
October 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/29054771/spinal-cavernous-angioma-associated-with-klippel-trenaunay-weber-syndrome-case-report-and-literature-review
#20
REVIEW
Kazunori Oda, Daijiro Morimoto, Kyongsong Kim, Kanako Yui, Takao Kitamura, Akio Morita
BACKGROUND: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital vascular disorder characterized by the classic triad of cutaneous nevi, venous varicosities, and osseous and soft tissue hypertrophy of the affected limb. Various vascular anomalies of the central nervous system have also been described in patients with KTWS. The English language literature to date contains 6 reports of associations between KTWS and spinal cord cavernous angioma (CA), but management of these patients has not been well described...
January 2018: World Neurosurgery
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