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Lymphangioleiomyomatosis

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https://www.readbyqxmd.com/read/29046979/medical-management-of-pulmonary-hypertension-with-unclear-and-or-multifactorial-mechanisms-group-5-is-there-a-role-for-pulmonary-arterial-hypertension-medications
#1
REVIEW
Jason Weatherald, Laurent Savale, Marc Humbert
PURPOSE OF REVIEW: The purpose of this review was to outline the mechanisms and to review recent literature on pulmonary arterial hypertension (PAH) medications in group 5 pulmonary hypertension (PH). RECENT FINDINGS: The first steps in management are to understand the mechanisms and hemodynamic profile and to exclude chronic thromboembolic disease. Recent studies in the past 5 years have found that PAH medications may improve hemodynamics in patients with pre-capillary pulmonary hypertension due to sarcoidosis, pulmonary Langerhans cell histiocytosis, lymphangioleiomyomatosis, and myeloproliferative disorders with dasatinib-induced PH...
October 18, 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/29021448/additional-octreotide-therapy-to-sirolimus-achieved-a-decrease-in-sirolimus-refractory-chylous-effusion-complicated-with-lymphangioleiomyomatosis
#2
Masashi Namba, Takeshi Masuda, Takashi Nakamura, Yasushi Horimasu, Shintaro Miyamoto, Taku Nakashima, Hiroshi Iwamoto, Kazunori Fujitaka, Hironobu Hamada, Noboru Hattori
Recently, sirolimus, an inhibitor of mammalian target of rapamycin, was reported to decrease chylous effusion in patients with lymphangioleimyomatosis (LAM). We herein report a case of a 34-year-old woman with LAM who developed refractory chylothorax and chylous ascites during sirolimus therapy. In this case, to reduce chylous effusion, we administered octreotide, which is often used to control postoperative chylous effusion, in addition to the sirolimus therapy. This combination therapy reduced the chylothorax and chylous ascites...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28993539/lung-function-response-and-side-effects-to-rapamycin-for-lymphangioleiomyomatosis-a-prospective-national-cohort-study
#3
Janet Bee, Sharon Fuller, Suzanne Miller, Simon R Johnson
RATIONALE: Mechanistic target of rapamycin inhibitors reduce loss of lung function in lymphangioleiomyomatosis (LAM), although their benefit varies between individuals. We examined lung function response and side effects to rapamycin in a national cohort. METHODS: Subjects were receiving rapamycin for progressive lung disease. Clinical evaluation, detailed phenotyping, serial lung function, rapamycin and safety monitoring were performed according to a clinical protocol...
October 9, 2017: Thorax
https://www.readbyqxmd.com/read/28972182/urokinase-type-plasminogen-activator-upa-is-critical-for-progression-of-tuberous-sclerosis-complex-2-tsc2-deficient-tumors
#4
Victoria Stepanova, Konstantin V Dergilev, Kelci R Holman, Yelena V Parfyonova, Zoya I Tsokolaeva, Mimi Teter, Elena N Atochina-Vasserman, Alla Volgina, Sergei V Zaitsev, Shane P Lewis, Fedor G Zabozlaev, Kseniya Obraztsova, Vera P Krymskaya, Douglas B Cines
Lymphangioleiomyomatosis (LAM) is a fatal lung disease associated with germline or somatic inactivating mutations in tuberous sclerosis complex genes (TSC1 or TSC2). LAM is characterized by neoplastic growth of smooth muscle (SM)-α-actin-positive cells, that destroy lung parenchyma, and by the formation of benign renal neoplasms called angiolipomas. The mTOR complex 1 (mTORC1) inhibitor rapamycin slows progression of these diseases, but is not curative and associated with notable toxicity at clinically effective doses, highlighting the need for better understanding LAM's molecular etiology...
September 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28960664/efficacy-and-safety-of-transbronchial-lung-biopsy-for-the-diagnosis-of-lymphangioleiomyomatosis-a-report-of-24-consecutive-patients
#5
Taro Koba, Toru Arai, Masanori Kitaichi, Takahiko Kasai, Masaki Hirose, Kazunobu Tachibana, Chikatoshi Sugimoto, Masanori Akira, Seiji Hayashi, Yoshikazu Inoue
BACKGROUND AND OBJECTIVE: Lymphangioleiomyomatosis (LAM) is a diffuse cystic lung disease that occurs in women of childbearing age. LAM can be diagnosed on a clinical basis in patients with typical high-resolution computed tomography (HRCT) patterns and at least one other corroborating disease feature, such as chylothorax, angiomyolipoma, tuberous sclerosis complex or elevated serum vascular endothelial growth factor (VEGF)-D. However, patients who do not meet these criteria require tissue confirmation for a definitive diagnosis, and the utility of methods that are less invasive than surgical lung biopsy, such as transbronchial lung biopsy (TBLB), are not well studied...
September 28, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28954765/new-insights-in-lymphangioleiomyomatosis-and-pulmonary-langerhans-cell-histiocytosis
#6
REVIEW
Olga Torre, Davide Elia, Antonella Caminati, Sergio Harari
Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are rare diseases that lead to progressive cystic destruction of the lungs. Despite their distinctive characteristics, these diseases share several features. Patients affected by LAM or PLCH have similar radiological cystic patterns, a similar age of onset, and the possibility of extrapulmonary involvement. In this review, the recent advances in the understanding of the molecular pathogenesis, as well as the current and most promising biomarkers and therapeutic approaches, are described...
September 30, 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28910919/-the-value-of-serum-vegf-d-concentration-and-tsc-gene-in-diagnosis-and-treatment-of-lymphangioleiomyomatosis
#7
J Lin, G X Lai, W Wen
No abstract text is available yet for this article.
September 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28899738/angiomyomatous-hamartoma-of-lymph-nodes-revisited-clinico-pathologic-study-of-21-cases-emphasizing-its-distinction-from-lymphangioleiomyomatosis-of-lymph-nodes
#8
Michelle Moh, Ankur Sangoi, Joseph T Rabban
Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma and adipocytes, most commonly affecting inguinal LN. A similar constellation of cell types constitutes various members of the perivascular epithelioid cell tumor (PEComa) family, including lymphangioleiomyomatosis (LAM) which can involve LN in women. Because some LN-LAM patients have tuberous sclerosis complex (TSC) and/or other PEComa family lesions, it is clinically relevant to distinguish LN-LAM from AMH-LN...
September 9, 2017: Human Pathology
https://www.readbyqxmd.com/read/28888335/dramatic-relapse-of-seizures-after-everolimus-withdrawal
#9
Alessia Mingarelli, Aglaia Vignoli, Francesca La Briola, Angela Peron, Lucio Giordano, Giuseppe Banderali, Maria Paola Canevini
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by deregulation of the mTOR pathway, and represents one of the leading genetic causes of epilepsy. mTOR inhibitors (Sirolimus and Everolimus) are currently approved only for the treatment of growing subependymal giant cell astrocytomas, renal angiomyolipomas and lymphangioleiomyomatosis in TSC. However, preclinical and clinical evidence supports their potential role in effectively treating TSC-associated epilepsy, but no consensus on its use in seizures has been reached yet and there are few data on epilepsy outcome after the suspension of mTOR inhibitors treatment...
August 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28830860/human-pluripotent-stem-cell-derived-tsc2-haploinsufficient-smooth-muscle-cells-recapitulate-features-of-lymphangioleiomyomatosis
#10
Lisa M Julian, Sean P Delaney, Ying Wang, Alexander A Goldberg, Carole Doré, Julien Yockell-Lelièvre, Roger Y Tam, Krinio Giannikou, Fiona McMurray, Molly S Shoichet, Mary-Ellen Harper, Elizabeth P Henske, David J Kwiatkowski, Thomas N Darling, Joel Moss, Arnold S Kristof, William L Stanford
Lymphangioleiomyomatosis (LAM) is a progressive destructive neoplasm of the lung associated with inactivating mutations in the TSC1 or TSC2 tumor suppressor genes. Cell or animal models that accurately reflect the pathology of LAM have been challenging to develop. Here, we generated a robust human cell model of LAM by reprogramming TSC2 mutation-bearing fibroblasts from a patient with both tuberous sclerosis complex (TSC) and LAM (TSC-LAM) into induced pluripotent stem cells (iPSC), followed by selection of cells that resemble those found in LAM tumors by unbiased in vivo differentiation...
October 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28823029/experience-of-lung-transplantation-in-patients-with-lymphangioleiomyomatosis-at-a-brazilian-reference-centre
#11
Bruno Guedes Baldi, Marcos Naoyuki Samano, Silvia Vidal Campos, Martina Rodrigues de Oliveira, José Eduardo Afonso Junior, Rafael Medeiros Carraro, Ricardo Henrique Oliveira Braga Teixeira, Isabela Pasqualini Minguini, Roni Burlina, Eduardo Zinoni Silva Pato, Carlos Roberto Ribeiro Carvalho, André Nathan Costa
INTRODUCTION: Lung transplantation (LT) is the standard of care for patients with advanced lung diseases, including lymphangioleiomyomatosis (LAM). LAM accounts for only 1% of all LTs performed in the international registry. As a result, the global experience, including the use of mechanistic target of rapamycin (mTOR) inhibitors before and after LT in LAM, is still limited. METHODS: We conducted a retrospective review of all LAM patients who underwent LT at our centre between 2003 and 2016...
August 19, 2017: Lung
https://www.readbyqxmd.com/read/28792952/everolimus-long-term-use-in-patients-with-tuberous-sclerosis-complex-four-year-update-of-the-exist-2-study
#12
RANDOMIZED CONTROLLED TRIAL
John J Bissler, J Chris Kingswood, Elzbieta Radzikowska, Bernard A Zonnenberg, Elena Belousova, Michael D Frost, Matthias Sauter, Susanne Brakemeier, Petrus J de Vries, Noah Berkowitz, Maurizio Voi, Severine Peyrard, Klemens Budde
OBJECTIVES: We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis. METHODS: Following favorable results from the double-blind core phase of EXIST-2 (NCT00790400), patients were allowed to receive open-label everolimus (extension phase). Patients initially randomly assigned to everolimus continued on the same dose; those who were receiving placebo crossed over to everolimus 10 mg/day...
2017: PloS One
https://www.readbyqxmd.com/read/28754097/lymphangioleiomyomatosis-multifocal-micronodular-pneumocyte-hyperplasia-and-sarcoidosis-more-pathological-findings-in-the-same-chest-ct-or-a-single-pathological-pathway
#13
Fabiano Di Marco, Giuseppina Palumbo, Silvia Terraneo, Gianluca Imeri, Elena Lesma, Nicola Sverzellati, Angela Peron, Lorenzo Gualandri, Maria Paola Canevini, Stefano Centanni
BACKGROUND: Autoimmune hepatitis/primary biliary cirrhosis overlap syndrome, lymphangioleiomyomatosis/tuberous sclerosis complex (LAM-TSC), and sarcoidosis are three rare diseases. Here we present, to the best of our knowledge, the first description of a patient with the coexistence of these three diseases. CASE PRESENTATION: A 47-year-old woman affected by LAM-TSC and primary biliary cirrosis/autoimmune hepatitis overlap syndrome. During her follow up a high resolution chest CT scan (HRTC) confirmed the presence of both multiple cysts and micronodular opacities consistent with multifocal micronodular pneumocytes hyperlasia (MMPH), and revealed multiple hilar-mediastinal symmetrical lymphadenopathies suggestive of sarcoidosis...
July 28, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28752672/risk-factors-for-stomatitis-in-patients-with-lymphangioleiomyomatosis-during-treatment-with-sirolimus-a-multicenter-investigator-initiated-prospective-study
#14
Nobutaka Kitamura, Kuniaki Seyama, Yoshikazu Inoue, Katsura Nagai, Masaru Suzuki, Hiroshi Moriyama, Toshinori Takada, Ryushi Tazawa, Toyohiro Hirai, Michiaki Mishima, Mie Hayashida, Masaki Hirose, Toru Arai, Chikatoshi Sugimoto, Noboru Hattori, Kentaro Watanabe, Tsutomu Tamada, Kohei Akazawa, Takahiro Tanaka, Koh Nakata
PURPOSE: Lymphangioleiomyomatosis is a rare lung disease caused by proliferation of abnormal smooth muscle-like cells and typically occurs in premenopausal women. Sirolimus is now the first-line drug for the treatment of lymphangioleiomyomatosis. Sirolimus-induced stomatitis is the most frequent adverse event experienced during treatment. To identify risk factors, we investigated the association of stomatitis incidence with patient background data and treatment parameters, using data from the multicenter long-term sirolimus trial...
October 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28733877/expanding-the-spectrum-of-colonic-manifestations-in-tuberous-sclerosis-l-cell-neuroendocrine-tumor-arising-in-the-background-of-rectal-pecoma
#15
David L Kolin, Kai Duan, Bo Ngan, J Ted Gerstle, Monika K Krzyzanowska, Gino R Somers, Ozgur Mete
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous condition that predisposes to numerous proliferative lesions, including perivascular epithelioid cell tumors (PEComas), such as lymphangioleiomyomatosis (LAM) and angiomyolipomas, and rare neuroendocrine neoplasms. We describe herein a TSC2-harboring tuberous sclerosis patient manifesting with a synchronous well-differentiated L-cell rectal neuroendocrine tumor and leiomyomatosis-like LAM of the rectum. The background large bowel wall was thickened by confluent nodular areas comprising vessels and spindle-to-epithelioid cells, which are immunoreactive for myoid (smooth muscle actin, muscle specific actin, and desmin) and melanocytic markers (HMB45, Melan-A, microphthalmia transcription factor, and CD117)...
July 21, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28710231/tuberin-regulates-prostaglandin-receptor-mediated-viability-via-rheb-in-mtorc1-hyperactive-cells
#16
Chenggang Li, Xiaolei Liu, Yang Liu, Erik Zhang, Kantha Medepalli, Kouhei Masuda, Na Li, Kathryn A Wikenheiser-Brokamp, Andrew Osterburg, Michael T Borchers, Elizabeth J Kopras, David R Plas, Julia Sun, David N Franz, Jamie K Capal, Maxwell Mays, Yang Sun, David J Kwiatkowski, Anya Alayev, Marina K Holz, Darcy A Krueger, Brian J Siroky, Jane J Yu
Tuberous sclerosis complex (TSC) is a tumor-suppressor syndrome affecting multiple organs, including the brain, skin, kidneys, heart, and lungs. TSC is associated with mutations in TSC1 or TSC2, resulting in hyperactivation of mTOR complex 1 (mTORC1). Clinical trials demonstrate that mTORC1 inhibitors decrease tumor volume and stabilize lung function in TSC patients; however, mTOR inhibitors are cytostatic not cytocidal, and long-term benefits and toxicities are uncertain. Previously, we identified rapamycin-insensitive upregulation of cyclooxygenase 2 (PTGS2/COX2) and prostaglandin E2 (PGE2) production in TSC2-deficient cells and postulated that the action of excess PGE2 and its cognate receptors (EP) contributes to cell survival...
July 14, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28706850/pneumothorax-caused-by-cystic-and-nodular-lung-metastases-from-a-malignant-uterine-perivascular-epithelioid-cell-tumor-pecoma
#17
Shouichi Okamoto, Moegi Komura, Yasuhisa Terao, Aiko Kurisaki-Arakawa, Takuo Hayashi, Tsuyoshi Saito, Shinsaku Togo, Akira Shiokawa, Keiko Mitani, Etsuko Kobayashi, Toshio Kumasaka, Kazuhisa Takahashi, Kuniaki Seyama
Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28695825/tsc2-disruption-in-mesenchymal-progenitors-results-in-tumors-with-vascular-anomalies-overexpressing-lgals3
#18
Peter J Klover, Rajesh L Thangapazham, Jiro Kato, Ji-An Wang, Stasia A Anderson, Victoria Hoffmann, Wendy K Steagall, Shaowei Li, Elizabeth McCart, Neera Nathan, Joshua D Bernstock, Matthew D Wilkerson, Clifton L Dalgard, Joel Moss, Thomas N Darling
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud mesenchymal progenitors. Tsc2cKO(Prrx1-cre) mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels prominent in the forelimbs. Abnormalities were blocked by the mTORC1 inhibitor sirolimus. A Tsc2/mTORC1 expression signature identified in Tsc2-deficient fibroblasts was also increased in bladder cancers with TSC1/TSC2 mutations in the TCGA database...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28678574/active-surveillance-of-nonfatty-renal-masses-in-patients-with-lymphangioleiomyomatosis-use-of-ct-features-and-patterns-of-growth-to-differentiate-angiomyolipoma-from-renal-cancer
#19
Nilo A Avila, Andrew J Dwyer, Joel Moss
OBJECTIVE: The objective of this study was to report our experience with active surveillance of nonfatty renal masses in a large cohort of patients with lymphangioleiomyomatosis (LAM), correlate their CT features and patterns of growth with histopathology results, and provide guidelines for management. SUBJECTS AND METHODS: Yearly CT examinations were performed of 367 women (age range, 21-75 years; mean age, 47 years). For the 31 patients with 37 nonfatty renal masses that were biopsied, excised, or followed for ≥ 5 years, CT enhancement characteristics and patterns of growth were compared with the histopathology results...
September 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28671794/-pulmonary-lymphangioleimyomatosis-review-and-case-report
#20
Sophie Excoffier, Olivier Guinand, Thierry Rochat
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease, occurring in women of childbearing age, that can occur sporadically (S-LAM) or can be associated with tuberous sclerosis complex (TSC-LAM), an inherited neurocutaneous disorder. This article is illustrated by a case report. We then review clinical manifestations, diagnostic tools, and treatment of this disease. LAM should be considered in young women who present with dyspnea on exertion and/or spontaneous pneumothorax, with typical cystic lesions on high-resolution chest CT...
August 24, 2016: Revue Médicale Suisse
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