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Lymphatic malformation

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https://www.readbyqxmd.com/read/28328134/somatic-pik3ca-mutations-in-seven-patients-with-pik3ca-related-overgrowth-spectrum
#1
Kit San Yeung, Janice Jing Kun Ip, Chin Pang Chow, Evelyn Yue Ling Kuong, Paul Kwong-Hang Tam, Godfrey Chi-Fung Chan, Brian Hon-Yin Chung
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28242095/-superficial-cystic-lymphatic-malformations
#2
R Gabeff, G Lorette, D Herbreteau, A le Touze, D Goga, A Maruani
No abstract text is available yet for this article.
February 24, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28230604/stereophotogrammetric-evaluation-of-labial-symmetry-after-surgical-treatment-of-a-lymphatic-malformation
#3
Valentina Pucciarelli, Filippo Tarabbia, Marina Codari, Giulia Andrea Guidugli, Giacomo Colletti, Giovanni Dell'Aversana Orabona, Bernardo Bianchi, Chiarella Sforza, Federico Biglioli
Lymphatic malformations (LMs) are rare, nonmalignant masses, frequently involving the head and neck, potentially causing impairment to the surrounding anatomical structures. Major LMs frequently cause facial disfigurement with obvious consequences on self-esteem and social functioning. The attempt to restore symmetry is thus one of the main goals of treatment. In this study, the authors present a not-invasive method to objectively quantify the symmetry of the labial area before and after surgical treatment of a LM, affecting a 16-year-old woman...
February 22, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28228882/renal-lymphangiomatosis-a-rare-differential-diagnosis-for-autosomal-recessive-polycystic-kidney-disease-in-pediatric-patients
#4
Amna A Kashgari, Nabil Ozair, Amin Al Zahrani, Mohammed O Al Otibi, Khalid Al Fakeeh
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics. Radiologist knowledge of the unique radiological features of this entity helps patient's safety in terms of management. We study the case of a 27-month-old boy presented to the emergency department with upper respiratory tract infection. He had a high blood pressure and had been diagnosed earlier with autosomal recessive polycystic kidney disease based on renal ultrasound findings...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28225486/abdominal-cystic-lymphangioma-in-a-term-newborn-a-case-report-and-update-of-new-treatments
#5
Ilaria Amodeo, Giacomo Cavallaro, Genny Raffaeli, Lorenzo Colombo, Monica Fumagalli, Riccardo Cavalli, Ernesto Leva, Fabio Mosca
INTRODUCTION: Lymphatic malformations are benign anomalies derived from the abnormal development of lymphatic channels. Usually asymptomatic, they can cause compression on adjacent structures or present acute complications (bleeding or infection). Small asymptomatic lesions can be conservatively managed since the possibility of spontaneous regressions is described, while symptomatic lesions require active management. Less invasive therapeutic options are now preferred instead of surgery (sclerotherapy, laser therapy)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28213627/real-time-mri-guided-percutaneous-sclerotherapy-of-low-flow-head-and-neck-lymphatic-malformations-in-the-pediatric-population-a-stepwise-approach
#6
Sasan Partovi, Lorenna Vidal, Ziang Lu, Dean A Nakamoto, Ji Buethe, Mark Clampitt, Michael Coffey, Indravadan J Patel
Real-time MRI-guided percutaneous sclerotherapy is a novel and evolving treatment for congenital lymphatic malformations in the head and neck. We elaborate on the specific steps necessary to perform an MRI-guided percutaneous sclerotherapy of lymphatic malformations including pre-procedure patient work-up and preparation, stepwise intraprocedural interventional techniques and post-procedure management. Based on our institutional experience, MRI-guided sclerotherapy with a doxycycline-gadolinium-based mixture as a sclerosant for lymphatic malformations of the head and neck region in children is well tolerated and effective...
February 17, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28195247/type-ii-congenital-pulmonary-airway-malformation-associated-with-intralobar-pulmonary-sequestration-report-of-a-case-and-review-of-classification-criteria
#7
M G Mastrogiulio, A Barone, M G Disanto, A Ginori, M R Ambrosio, S F Carbone, D Spina
Pulmonary congenital abnormalities are rare disorders including congenital pulmonary airway malformations (CPAM) and pulmonary sequestration (PS). CPAM is a lesion characterized by the presence of anomalous bronchiolar or acinar structures, variable in size, either cystic or not cystic. PS is generally defined as nonfunctioning lung tissue that is not in normal continuity with the tracheobronchial tree and that derives its blood supply from systemic vessels. We describe a case of a baby girl with a very rare association between CPAM type 2 and intralobar pulmonary sequestration (IPS) focusing on the cystic lesions typical of CPAM and on the lymphatic and blood vessels...
March 2016: Pathologica
https://www.readbyqxmd.com/read/28180018/case-report-of-four-different-primary-mesenteric-neoplasms-and-review-of-literature
#8
Yusuf Yagmur, Sami Akbulut, Serdar Gumus, Mehmet Babur, Mehmet Ali Can
INTRODUCTION: It is rare for primary tumors to arise from the mesentery. Lymphangiomas appear as congenital malformations of the lymphatic system or benign neoplasms as a large, thin-walled, often multilocular cyst. Mesenteric infiltration is common and during surgical treatment, adjustment of structures such as the bowel and resection of the spleen may be required. Cystic mesotheliomas are rare, benign tumors that originate from the peritoneal mesothelium and are more common in women...
October 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/28178103/bronchogenic-cyst-in-the-head-and-neck-region
#9
Dong Hoon Lee, Tae Mi Yoon, Joon Kyoo Lee, Sang Chul Lim
OBJECTIVE: The objective of this study was to review the clinical characteristics and surgical treatment outcomes of patients with bronchogenic cysts in the head and neck region. METHODS: A retrospective chart review was performed at Chonnam National University Hwasun Hospital from January 2006 to May 2016. RESULTS: Eight patients with a final diagnosis of bronchogenic cyst in the head and neck region were identified based on their medical records...
February 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28139107/-venous-aneurysms-associated-with-lymphatic-malformations
#10
V Núñez Cerezo, M I Romo Muñoz, J Jiménez Gómez, P Triana Junco, A Sánchez Galán, G Chocarro Amatriain, J C López Gutiérrez
OBJECTIVES: To analyze and describe the association between the development of venous aneurysms of the mayor vessels in patients with lymphatic malformations. MATERIAL AND METHODS: Retrospective review of patients diagnosed with both VA and LM from 1993 to 2014 and a descriptive analysis of clinical course was performed. RESULTS: We found 6 patients, 50% females, who had LM and VA confirmed with imaging techniques. All were diagnosed between 20 weeks- 12 years of age...
April 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28127788/fetal-lymphatic-malformations-more-variable-than-we-think
#11
Edward R Oliver, Beverly G Coleman, Suzanne E DeBari, Teresa Victoria, Devon M Looney, Steven C Horii, Julie S Moldenhauer, Jill E Langer, Lori J Howell, Bruce R Pawel, N Scott Adzick
Lymphatic malformations are benign lesions that result from abnormal development of the lymphatic and venous systems. These lesions may be detected during routine prenatal ultrasound screening, and typically demonstrate imaging findings of a multiseptate cystic lesion lacking solid components, vascularity, and calcifications. We report 73 cases of prenatally detected lymphatic malformations and describe greater variability in their prenatal sonographic appearance than previously reported, including purely cystic lesions and mixed cystic and solid lesions with calcifications...
January 27, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28122799/cystic-lymphangioma-of-spleen-in-adults
#12
Shalini Duvvada, Debadutta Senapati, Sreenivas Rao Challa, Tejokrishna Kalluri
Splenic diseases are rare. Tumours of the spleen are classified as either benign or malignant. Primary benign tumours of the spleen are extremely rare, identified on surgery and autopsy, accounting for <0.007% of all splenic tumours. Splenic lymphangiomas are benign cystic tumours resulting from congenital malformations of the lymphatic system that appear as a single or multiple lesions of the spleen. It mainly affects children and is rarely manifested after the age of 20 years of age. We report a case of cystic lymphangioma of spleen in a 40-year-old woman admitted with a huge mass in the abdomen, which on imaging found to be a cystic mass arising from spleen...
January 25, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28122111/obstructing-in-utero-oropharyngeal-mass-case-report-of-a-lymphatic-malformation-arising-within-an-oropharyngeal-teratoma
#13
Todd J Wannemuehler, Christopher R Deig, Brandon P Brown, Stuart A Morgenstein
An ex utero intrapartum treatment procedure was performed to deliver a fetus with a multiseptated, entirely cystic, 4.5 × 5.0 × 4.0-cm mass occupying the oropharynx and oral cavity with protrusion from the mouth. Surgical excision was performed, and final pathologic diagnosis revealed a lymphatic malformation arising within a cystic oropharyngeal teratoma. Lymphatic malformations are virtually indistinguishable radiologically from rare, purely cystic teratomata, and efforts have been made to distinguish between the two in utero because of differing available treatment modalities...
January 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28104932/abdominal-lymphatic-malformation-spectrum-of-imaging-findings
#14
Anupam Lal, Pankaj Gupta, Manphool Singhal, Saroj K Sinha, Sadhana Lal, Surinder Rana, Niranjan Khandelwal
Lymphatic malformations are congenital vascular malformations with lymphatic differentiation. Although the most common locations for lymphatic malformation are the neck and axilla, they can occur at several locations in the body including the abdomen. The abdominal location is rather rare and accounts for approximately 5% of all lymphatic malformation. Abdominal lymphatic malformation can arise from mesentery, omentum, gastrointestinal tract, and retroperitoneum. Clinical presentation includes an abdominal lump, vague abdominal discomfort, and secondary complications including intestinal obstruction, volvulus, ischemia, and bleeding...
October 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28104640/arterial-spin-labeling-to-discriminate-pediatric-cervicofacial-soft-tissue-vascular-anomalies
#15
G Boulouis, V Dangouloff-Ros, O Boccara, N Garabedian, V Soupre, A Picard, V Couloigner, N Boddaert, O Naggara, F Brunelle
BACKGROUND AND PURPOSE: Differentiating major subtypes of cervicofacial vascular lesions is crucial for appropriate management. The aim of our study was to evaluate the performance of an MR imaging arterial spin-labeling perfusion sequence in discriminating pediatric cervicofacial soft-tissue vascular anomalies. MATERIALS AND METHODS: We conducted a retrospective analysis of data from a prospectively maintained registry including pediatric patients at a tertiary pediatric center between January 2012 and January 2014...
January 19, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28094160/a-case-of-generalized-lymphatic-anomaly-causing-skull-base-leakage-and-bacterial-meningitis
#16
Kenichi Suga, Aya Goji, Miki Inoue, Masami Kawahito, Masako Taki, Kazuhiro Mori
Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly had been diagnosed by pericardial biopsy. Petrous bone tumor had been followed up without surgery. At the age of seven he presented with fever and disturbance of consciousness, and bacterial meningitis due to Streptococcus pneumoniae was diagnosed...
January 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28093934/efficacy-and-safety-of-oral-sildenafil-in-treatment-of-pediatric-head-and-neck-lymphatic-malformations
#17
Shengcai Wang, Jie Zhang, Wentong Ge, Yuanhu Liu, Yongli Guo, Yue Liu, Ning Wang, Yuzhu He, Jun Tai, Xin Ni
CONCLUSIONS: Low dose oral sildenafil citrate tablets are safe and effective to decrease the lesions volume in some LMs children, especially with macrocystic lesion or mixed type. OBJECTIVE: To evaluate the efficacy and safety of oral sildenafil in treatment of pediatric head and neck lymphatic malformations (LMs). SUBJECTS AND METHODS: In this open-label study, 21 children diagnosed with LMs were given oral sildenafil and stopped at week 24...
January 17, 2017: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/28087956/intralesional-injection-of-ok-432-in-cystic-hygroma
#18
M Hazim, S S Moses, I P Tan
BACKGROUND: Lymphangiomas are congenital malformations of the lymphatic system with characteristic dilated endothelium-lined spaces. It is vulnerability to infection or chemical irritants cause spontaneous reduction in size and in some cases complete resolution. Intralesional injection of OK-432 or Picibanil (lyophilized incubation mixture of Group A Streptococcus pyogenes of human origin) is slowly gaining recognition as its safety and efficacy standards have shown to avoid complications resulting from surgical interventions...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28064298/case-report-of-a-chest-wall-cystic-hygroma-in-a-teenager
#19
K Aimanan, M P Putera, L G Chew, T Ramesh, M I Muhd Azim, B Badmanaban
Cystic hygroma or cystic lymphangioma is a congenital malformation of lymphatic origin. Their occurrence on the chest wall is very rare, and they progressively grow with age infiltrating into the local tissues, around muscle fibers and nerves, making them difficult and hazardous to remove. There are various treatment modalities of such lesion. Based on the literature surgical excision is the preferred treatment of choice in cystic hygroma because it gives a better cure rate compared to other modalities. We report a case successful excision of anterolateral chest wall cystic hygroma in a teenager in Hospital Serdang...
October 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28062382/fourteen-years-follow-up-of-massive-pelvic-girdle-osteolysis-caused-by-lymphatic-malformation-gorham-stout-disease
#20
Richard Ballas, Madeline Caduc, Jordan Ovigue, Philippe Elkienbaum, Frédérique Sauvat
No abstract text is available yet for this article.
January 3, 2017: Joint, Bone, Spine: Revue du Rhumatisme
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