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Yanan Guo, John R Dreier, Juxiang Cao, Heng Du, Scott R Granter, David J Kwiatkowski
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deletion of the Tsc1 gene to fibroblasts using the Fsp-Cre allele. Mutant, Tsc1ccFsp-Cre+ mice survived a median of nearly a year, and developed tumors in multiple sites but did not develop angiomyolipoma or lymphangioleiomyomatosis...
2016: PloS One
Chenggang Li, Na Li, Xiaolei Liu, Erik Y Zhang, Yang Sun, Kouhei Masuda, Jing Li, Julia Sun, Tasha Morrison, Xiangke Li, Yuanguang Chen, Jiang Wang, Nagla A Karim, Yi Zhang, John Blenis, Mauricio J Reginato, Elizabeth P Henske, Jane J Yu
Lymphangioleiomyomatosis (LAM) is a progressive lung disease that primarily affects young women. Genetic evidence suggests that LAM cells bearing TSC2 mutations migrate to the lungs, proliferate, and cause cystic remodeling. The female predominance indicates that estrogen plays a critical role in LAM pathogenesis, and we have proposed that estrogen promotes LAM cell metastasis by inhibition of anoikis. We report here that estrogen increased LAM patient-derived cells' resistance to anoikis in vitro, accompanied by decreased accumulation of the proapoptotic protein Bim, an activator of anoikis...
November 17, 2016: JCI Insight
Angelo M Taveira-DaSilva, Joel Moss
INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a disease of women characterized by cystic lung destruction, lymphatic involvement, and renal angiomyolipomas. AREAS COVERED: LAM is caused by proliferation of abnormal smooth muscle-like LAM cells containing mutations and perhaps epigenetic modifications of the TSC1 or TSC2 genes, which encode, respectively, hamartin and tuberin, two proteins controlling the mechanistic target of rapamycin (mTOR) signaling pathway...
2016: Expert Opinion on Orphan Drugs
Nishant Gupta, Dale Langenderfer, Francis X McCormack, Daniel P Schauer, Mark H Eckman
RATIONALE: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) imaging of chest has implications for subsequent management...
October 13, 2016: Annals of the American Thoracic Society
Andrew R Osterburg, Rebecca L Nelson, Benyamin Z Yaniv, Rachel Foot, Walter R F Donica, Madison A Nashu, Huan Liu, Kathryn A Wikenheiser-Brokamp, Joel Moss, Nishant Gupta, Francis X McCormack, Michael T Borchers
Lymphangioleiomyomatosis (LAM) is a rare lung disease of women that leads to progressive cyst formation and accelerated loss of pulmonary function. Neoplastic smooth muscle cells from an unknown source metastasize to the lung and drive destructive remodeling. Given the role of NK cells in immune surveillance, we postulated that NK cell activating receptors and their cognate ligands are involved in LAM pathogenesis. We found that ligands for the NKG2D activating receptor UL-16 binding protein 2 (ULBP2) and ULBP3 are localized in cystic LAM lesions and pulmonary nodules...
October 6, 2016: JCI Insight
Iris Bassi, Gill Hollis, Vincent Cottin, Sergio Harari, Elma Zwanenburg, Marcel Veltkamp, Alvaro Casanova, Monica Fletcher, Sarah Masefield, Pippa Powell, Jeanette Boyd
Lymphangioleiomyomatosis (LAM) is a rare lung disease that almost exclusively affects women and develops in about one in 400 000 adult females. The European Lung Foundation worked closely with one of the patient organisations within its network, the European LAM Federation, to raise awareness of LAM at the 2014 European Respiratory Society International Congress in Munich, Germany. In addition, an invitation-only workshop with 45 individuals from 13 countries was held to discuss the priorities for women in Europe living with the disease...
April 2016: ERJ Open Research
S Brakemeier, C Grohé, F Bachmann, K Budde
No abstract text is available yet for this article.
September 29, 2016: Pneumologie
Francis X McCormack, Nishant Gupta, Geraldine R Finlay, Lisa R Young, Angelo M Taveira-DaSilva, Connie G Glasgow, Wendy K Steagall, Simon R Johnson, Steven A Sahn, Jay H Ryu, Charlie Strange, Kuniaki Seyama, Eugene J Sullivan, Robert M Kotloff, Gregory P Downey, Jeffrey T Chapman, MeiLan K Han, Jeanine M D'Armiento, Yoshikazu Inoue, Elizabeth P Henske, John J Bissler, Thomas V Colby, Brent W Kinder, Kathryn A Wikenheiser-Brokamp, Kevin K Brown, Jean F Cordier, Cristopher Meyer, Vincent Cottin, Jan L Brozek, Karen Smith, Kevin C Wilson, Joel Moss
BACKGROUND: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily affects women. The purpose of these guidelines is to provide recommendations for the diagnosis and treatment of LAM. METHODS: Systematic reviews were performed to summarize evidence pertinent to our questions. The evidence was summarized and discussed by a multidisciplinary panel. Evidence-based recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation approach...
September 15, 2016: American Journal of Respiratory and Critical Care Medicine
Dandan Zong, Caihong Liu, Zhihui Shi, Li Zhou, Yating Peng, Ruoyun Ouyang
To improve the diagnosis and treatment for tuberous sclerosis complex (TSC) with pulmonary lymphangioleiomyomatosis, a retrospective analysis was performed based on the clinical data of 2 patients with such disease. Both of them have typical thin-walled cystic lesion throughout the lung field, renal angioleiomyolipoma, and various degrees of skin lesions. Central nervous system is involved in one patient. Lesions in the lung and kidney in one patient were improved significantly after 5 months of rapamycin treatment...
July 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
Weiwei Fu, Yujun Li, Hong Li, Ping Yang, Xiaoming Xing
Lymphangioleiomyomatosis (LAM) is a progressive disorder of unknown etiology that predominantly affects the lungs, and the resulting respiratory failure can be fatal. Extrapulmonary LAM is a rare disease that often occurs concurrently with pulmonary LAM. Usually, extrapulmonary LAM presents as a localized, well-circumscribed mass. Due to the rare occurrence of extrapulmonary LAM and its atypical location, extrapulmonary LAM is often difficult to diagnose prior to surgery. The present study describes the clinicopathological features of primary liver LAM in a 26-year-old woman...
September 2016: Experimental and Therapeutic Medicine
S Brakemeier, C Grohé, F Bachmann, K Budde
Lymphangioleiomyomatosis (LAM) is a rare multi-system disorder affecting predominantly women of childbearing age. The disease entity is divided in sporadic LAM (sLAM) and LAM associated with tuberous sclerosis complex (TSC). In up to 50 % of female TSC-patients pulmonary involvement (TSC-LAM) can be found, with first clinical symptoms usually starting between 25 and 30 years of age. Progressive deterioration of lung function of 3 - 11 % of diffusion capacity per year has been described, that's why all female TSC patients should be screened for LAM (pulmonary function testing, 6-minute walk test, high-resolution chest CT scan)...
September 1, 2016: Pneumologie
Xuefeng Sun, Ruie Feng, Ye Zhang, Juhong Shi, Kai-Feng Xu
BACKGROUND: Lymphangioleiomyomatosis (LAM) and angiomyolipoma are two different, but related rare diseases. To the best of our knowledge, pulmonary LAM and pulmonary angiomyolipoma have not previously been observed in the same patient. CASE PRESENTATION: A 38-year-old woman presented with a dry cough and left flank pain. She had a right nephrectomy for renal angiomyolipoma 17 years ago. A magnetic resonance imaging scan demonstrated a round mass in the left kidney...
August 15, 2016: BMC Pulmonary Medicine
Simon R Johnson, Angelo M Taveira-DaSilva, Joel Moss
Lymphangioleiomyomatosis is a rare multisystem disease predominantly affecting women that can occur sporadically or in association with tuberous sclerosis. Lung cysts progressively replace the lung parenchyma, which leads to dyspnea, recurrent pneumothorax, and in some cases respiratory failure. Patients may also have lymphatic disease in the thorax, abdomen, and pelvis, and renal angiomyolipomas. Treatment includes supportive care, bronchodilators, and for those with progressive disease, mammalian target of rapamycin (mTOR) inhibitors...
September 2016: Clinics in Chest Medicine
Toshinori Takada, Ayako Mikami, Nobutaka Kitamura, Kuniaki Seyama, Yoshikazu Inoue, Katsura Nagai, Masaru Suzuki, Hiroshi Moriyama, Keiichi Akasaka, Ryushi Tazawa, Toyohiro Hirai, Michiaki Mishima, Mie Hayashida, Masaki Hirose, Chikatoshi Sugimoto, Toru Arai, Noboru Hattori, Kentaro Watanabe, Tsutomu Tamada, Hirohisa Yoshizawa, Kohei Akazawa, Takahiro Tanaka, Keita Yagi, Lisa R Young, Francis X McCormack, Koh Nakata
RATIONALE: Sirolimus has been shown in a randomized, controlled clinical trial to stabilize lung function in patients with lymphangioleiomyomatosis (LAM) treated for a 12-month time period; however, the pre-treatment decline in lung function decline after the drug was discontinued, indicating that continued exposure is required to suppress disease progression. OBJECTIVES: To elucidate the durability and tolerability of long-term sirolimus treatment in Asian patients with LAM...
August 11, 2016: Annals of the American Thoracic Society
Sergio Harari, Davide Elia, Olga Torre, Elisabetta Bulgheroni, Elena Provasi, Joel Moss
A young woman received a diagnosis of abdominal, sporadic lymphangioleiomyomatosis (LAM) and multiple abdominal lymphangioleiomyomas and was referred for recurrent chylous ascites responding only to a fat-free diet. On admission, pulmonary function test (PFT) results showed a moderate reduction in the transfer factor for carbon monoxide with normal exercise performance. The serum vascular endothelial growth factor D (VEGF-D) level was 2,209 pg/mL. DNA sequences, amplified at loci kg8, D16S3395, D16S3024, D16S521, and D16S291 on chromosome 16p13...
August 2016: Chest
Krinio Giannikou, Izabela A Malinowska, Trevor J Pugh, Rachel Yan, Yuen-Yi Tseng, Coyin Oh, Jaegil Kim, Magdalena E Tyburczy, Yvonne Chekaluk, Yang Liu, Nicola Alesi, Geraldine A Finlay, Chin-Lee Wu, Sabina Signoretti, Matthew Meyerson, Gad Getz, Jesse S Boehm, Elizabeth P Henske, David J Kwiatkowski
Renal angiomyolipoma is a kidney tumor in the perivascular epithelioid (PEComa) family that is common in patients with Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) but occurs rarely sporadically. Though histologically benign, renal angiomyolipoma can cause life-threatening hemorrhage and kidney failure. Both angiomyolipoma and LAM have mutations in TSC2 or TSC1. However, the frequency and contribution of other somatic events in tumor development is unknown. We performed whole exome sequencing in 32 resected tumor samples (n = 30 angiomyolipoma, n = 2 LAM) from 15 subjects, including three with TSC...
August 2016: PLoS Genetics
Alexander A Goldberg, Kwang-Bo Joung, Asma Mansuri, Yujin Kang, Raquel Echavarria, Ljiljana Nikolajev, Yang Sun, Jane J Yu, Stephane A Laporte, Adel Schwertani, Arnold S Kristof
Lymphangioleiomyomatosis (LAM) is a destructive lung disease that can arise sporadically or in adults suffering from the tumor syndrome tuberous sclerosis complex (TSC). Microscopic tumors ('LAM nodules') in the lung interstitium arise from lymphatic invasion and metastasis. These consist of smooth muscle-like cells (LAM cells) that exhibit markers of neural crest differentiation and loss of the tumor suppressor protein 'tuberous sclerosis complex-2' (TSC2). Consistent with a neural phenotype, expression of the neuropeptide urotensin-II and its receptor was detected in LAM nodules...
July 21, 2016: Oncotarget
Urte Sommerwerck, Bjoern E Kleibrink, Frederike Kruse, Manuela J Scherer, Yi Wang, Markus Kamler, Helmut Teschler, Gerhard Weinreich
BACKGROUND: The aim of our study was to determine the prevalence and clinical predictors of obstructive sleep apnea in lung transplantation recipients. METHODS: In a cross-sectional analysis we studied 77 clinically stable lung transplant recipients (45 men, time range after lung transplantation [LTX]: from one month to 15 years). Indications for LTX were 36 chronic obstructive lung disease (COPD), 27 idiopathic pulmonary fibrosis (IPF), eight cystic fibrosis, and six others...
May 2016: Sleep Medicine
Hisashi Oishi, Yasushi Hoshikawa, Tetsu Sado, Tatsuaki Watanabe, Akira Sakurada, Takashi Kondo, Yoshinori Okada
A 37-year-old woman underwent bilateral lung transplantation for lymphangioleiomyomatosis. Dense pleural adhesions due to past pleurodesis for chylothorax were observed and dissected in both thoracic cavities. The patient developed chylothorax after transplant. Chylothorax in the right thoracic cavity was successfully treated by conventional pleurodesis; however, pleural effusion from the left thoracic cavity was not reduced. According to fluoroscopic images obtained by injecting a contrast medium through the chest tube, the remaining pleural space in the left thoracic cavity was small and localized in the lower region adjacent to the mediastinum...
July 14, 2016: Annals of Thoracic and Cardiovascular Surgery
Małgorzata Sobiecka
Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease presenting with cough, dyspnea on exertion and recurrent pneumothorax. Substantial achievements have been made during the past two decades regarding the pathogenesis, diagnosis and management of this disorder. LAM, affecting almost exclusively women, is associated with inactivating tuberous sclerosis complex (TSC) gene mutations in LAM cells, resulting in activation of mTOR that controls cell proliferation, growth and motility. Many parallels have been identified between LAM pathogenesis and neoplasia; inactivating mutations, the ability of LAM cells to metastasise, the induction of angiogenesis and lymphangiogenesis, invasion of the lung...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
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