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Klippel trenaunay

E Mousty, A Loiodice, F Grosjean, O Prodhomme, J Develay-Morice, J M Faure, V Letouzey, F Fuchs
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Elizabeth A Andraska, Danielle C Horne, Danielle N Campbell, Jonathan L Eliason, Thomas W Wakefield, Dawn M Coleman
BACKGROUND: The spectrum of chronic venous disease (CVD) is well documented in adults; clinical guidelines standardize diagnosis and treatment. There is a paucity of data published commenting on pediatric CVD exclusive of Klippel-Trénaunay syndrome (KTS) and post-thrombotic syndrome. METHODS: This study aimed to define patterns of pediatric venous disease. All venous reflux studies performed on patients <18 years of age between January 2012 and June 2014 were reviewed...
October 2016: Journal of Vascular Surgery. Venous and Lymphatic Disorders
Summer L Kaplan, Hongming Zhuang
Klippel Trenaunay syndrome commonly manifests as lower limb hypertrophy where vascular malformation occurs. However, up to 20% of patients with Klippel Trenaunay syndrome can have gastrointestinal involvement. An 18-year-old man with known Klippel Trenaunay syndrome in the left lower extremity underwent Tc-labeled red blood cell imaging to determine the site of gastrointestinal bleeding. The images did not reveal the site of active bleeding. However, diffuse non-moving activity in the left abdomen and pelvis was noted, which corresponded to hypertrophied colon and related blood vessels, consistent with intestinal involvement of Klippel Trenaunay syndrome...
November 2016: Clinical Nuclear Medicine
June K Wu, Ellen D Hooper, Sherelle L Laifer-Narin, Lynn L Simpson, Jessica Kandel, Carrie J Shawber
Lymphatic malformations (LMs) are congenital lymphatic lesions that impose significant and costly morbidities on affected patients. Treatment options are limited due to incomplete understanding of LM pathobiology. Expression of an activated β2-adrenergic receptor has been described in LM tissue, suggesting that this pathway may contribute to the clinical manifestations of LM. We hypothesized that propranolol, a β-adrenergic receptor antagonist, might improve symptoms of patients with LMs and lymphatic anomalies...
September 2016: Pediatrics
Jose Maria Pereira de Godoy, Angela Río, Paloma Domingo Garcia, Maria de Fatima Guerreiro Godoy
The aim of this study is to report the results of intensive therapy of lymphedema associated with Klippel-Trenaunay syndrome. A 24-year-old female patient reported that her family had observed edema in her right leg and port wine stains from birth. For ten years, they consulted with different specialists in the region but the prognosis did not change and no specific treatment was found. In 2014, at the age of 24, with massive lymphedema, a leg ulcer, and recurrent infections, she started treatment at the Clínica Godoy in São José do Rio Preto...
2016: Case Reports in Vascular Medicine
Teng Zhang, Yufeng Yao, Jingjing Wang, Yong Li, Ping He, Vinay Pasupuleti, Zhengkun Hu, Xinzhen Jia, Qixue Song, Xiaoli Tian, Changqin Hu, Qiuyun Chen, Qing Kenneth Wang
Aggf1 is the first gene identified for Klippel-Trenaunay syndrome (KTS), and encodes an angiogenic factor. However, the in vivo roles of Aggf1 are incompletely defined. Here we demonstrate that Aggf1 is essential for both physiological angiogenesis and pathological tumor angiogenesis in vivo Two lines of Aggf1 knockout (KO) mice showed particularly severe phenotype as no homozygous embryos were observed and heterozygous mice also showed embryonic lethality (haploinsufficient lethality) observed only for Vegfa and Dll4 Aggf1(+/-) KO caused defective angiogenesis in yolk sacs and embryos...
August 13, 2016: Human Molecular Genetics
Igor Banzic, Milos Brankovic, Živan Maksimović, Lazar Davidović, Miroslav Marković, Zoran Rančić
OBJECTIVES: Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. METHODS: We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases)...
August 9, 2016: Phlebology
Sophie E R Horbach, Folkert Jolink, Chantal M A M van der Horst
Patients with extensive lymphatic malformations associated with tissue overgrowth syndromes (such as Klippel-Trenaunay syndrome and CLOVES) often pose a therapeutic challenge for physicians. In recent years, it has been suggested that oral sildenafil therapy might be used to treat congenital lymphatic malformations. However, this possible new therapy has not yet been used in patients with lymphatic malformations associated with tissue overgrowth syndromes. A 30-year-old man with extensive capillary-lymphatic malformations of the right leg and thorax, and a tissue overgrowth syndrome caused by a somatic mutation in the PIK3CA gene, was treated with oral sildenafil due to symptoms of pain, dyspnea, and functional impairment...
August 9, 2016: Dermatologic Therapy
Kevin R Volz, Christopher D Kanner, Julie Evans, Kevin D Evans
Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. We present a series of 5 cases of suspected KTS, while emphasizing the difficulties in distinguishing KTS from Parkes-Weber syndrome without diagnostic imaging and underscoring the importance of accurately classifying patients with the appropriate syndrome...
September 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Nitasha Klar, Bernard Cohen, Doris D M Lin
Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases...
2016: Handbook of Clinical Neurology
Antonio Martinez-Lopez, Gonzalo Blasco-Morente, Israel Perez-Lopez, Jose David Herrera-Garcia, Maria Luque-Valenzuela, Daniel Sanchez-Cano, Juan Carlos Lopez-Gutierrez, Ricardo Ruiz-Villaverde, Jesus Tercedor-Sanchez
Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation...
July 18, 2016: Clinical Genetics
Anthonia Asanye Ikpeme, Usang Edet Usang, Akan Wilson Inyang, Nchiewe Ani
AIM: This is to report a case of Klippel Trenauay Weber syndrome in a fifteen year old Nigerian boy. This is a rare syndrome and it is the first case to be reported in UCTH Calabar. CASE PRESENTATION: Product of a full term uneventful pregnancy, delivered to non-consanguineous apparently healthy parents. At birth was noted to gradually develop swelling on the right leg, worse at the right foot. There was crossed hemi-hypertrophy with right leg bigger than the left...
June 15, 2015: Open Access Macedonian Journal of Medical Sciences
Navin Agrawal, Apurva Vasavada
Klippel-Trenaunay syndrome is a rarely encountered congenital disease characterized by a triad of enlarged arteries and veins, limb hypertrophy and capillary malformations. We are presenting an interesting case of a 23-year male who had been previously diagnosed to have Klippel-Trenaunay syndrome. The patient presented with large pulmonary embolism after having undergone laser surgery for varicose veins. The diagnostic chest computed tomography (CT) performed also revealed the co-existence of severe destructive pulmonary parenchymal disease involving large areas of the pulmonary parenchyma and formation of large emphysematous bullae having an asymmetric involvement of the left lung field...
May 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Maosheng Zhan, Yumiko Hori, Naoki Wada, Jun-Ichiro Ikeda, Yuuki Hata, Keigo Osuga, Eiichi Morii
Angiogenic factor with G-patch and FHA domain 1 (AGGF1) is a novel angiogenic factor that was first described in Klippel-Trenaunay syndrome, a congenital vascular disease associated with capillary and venous malformations. AGGF1, similar to vascular endothelial growth factor (VEGF), has been shown to promote strong angiogenesis in chick embryos in vivo. Blocking AGGF1 expression prevented vessel formation, which suggests AGGF1 is a potent angiogenic factor linked to vascular malformations. So far, AGGF1 expression studies in human vascular lesions have not been performed...
April 28, 2016: Acta Histochemica et Cytochemica
Karen W Gripp, Laura Baker, Vinay Kandula, Katrina Conard, Mena Scavina, Joseph A Napoli, Gregory C Griffin, Mihir Thacker, Rachel G Knox, Graeme R Clark, Victoria E R Parker, Robert Semple, Ghayda Mirzaa, Kim M Keppler-Noreuil
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be the result of genomic abnormalities seen in Beckwith-Wiedemann syndrome, mosaic chromosome or genomic abnormalities, or somatic point mutations. Somatic missense mutations affecting the PI3K-AKT-MTOR pathway result in segmental overgrowth and are present in numerous benign and malignant tumors. Here, we report a fourth patient with asymmetric overgrowth due to a somatic PIK3CA mutation who had nephroblastomatosis or Wilms tumor...
October 2016: American Journal of Medical Genetics. Part A
Didier Bessis, Hélène Vernhet, Michèle Bigorre, Isabelle Quéré, Jochen Rössler
No abstract text is available yet for this article.
September 1, 2016: JAMA Dermatology
Hinesh Upadhyay, Khalid Sherani, Abhay Vakil, Mohammed Babury
Klippel - Trenaunay - Weber syndrome (KTWS) is a congenital condition characterized by a triad of capillary malformations of the skin, soft tissue and bone hypertrophy resulting in limb enlargement, and abnormalities of arteriovenous and lymphatic systems of the affected limb. In this case, we present a patient with KTWS receiving chronic anticoagulation that had a massive pulmonary embolism and was successfully treated with thrombolytic therapy. The purpose of this case is to educate readers about this uncommon condition and to increase awareness, recognition and timely treatment of its most common complications, namely thrombosis and pulmonary embolism...
2016: Respiratory Medicine Case Reports
Judy W S Hung, Michael W Y Leung, Clarence S W Liu, Dickson H S Fung, W L Poon, Felix S D Yam, Yvonne C L Leung, Kenneth Lap Yan Chung, Paula M Y Tang, Nicholas S Y Chao, Kelvin K W Liu
Aim Localized intravascular coagulopathy (LIC) has been described in adults with venous malformation (VM) but rarely reported in children. This study aims to determine the prevalence of LIC in children with VM and associated risk factors. Methods Patients younger than 18 years with VM from 2010 to 2014 were reviewed. Diagnosis was confirmed by Doppler ultrasound and/or magnetic resonance imaging. Demographics data and VM characteristics including volume, site, extension, painful symptoms, and palpable phleboliths were studied...
April 18, 2016: European Journal of Pediatric Surgery
Reid A Maclellan, Gulraiz Chaudry, Arin K Greene
UNLABELLED: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel-Trenaunay and Parkes Weber). METHODS: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema...
February 2016: Plastic and Reconstructive Surgery. Global Open
Nana Yara, Hitoshi Masamoto, Yuko Iraha, Akihiko Wakayama, Yukiko Chinen, Hayase Nitta, Tadatsugu Kinjo, Yoichi Aoki
Background. We experienced a rare case of a pregnant woman with Klippel-Trénaunay syndrome complicated with diffuse venous malformation of the uterus. This is the first report on the usefulness of dynamic contrast-enhanced-MRI for the diagnosis of diffuse venous malformation of the uterus. Case Presentation. A 23-year-old woman presented with convulsions and talipes equinus position of both lower limbs at 11 weeks of gestation. At 27 weeks, ultrasonography demonstrated tubular echolucent spaces throughout the myometrium...
2016: Case Reports in Obstetrics and Gynecology
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