keyword
MENU ▼
Read by QxMD icon Read
search

Lymphangioleiomyomatosis

keyword
https://www.readbyqxmd.com/read/29885404/in-situ-analysis-of-mtorc1-2-and-cellular-metabolism-related-proteins-in-human-lymphangioleiomyomatosis
#1
Ildiko Krencz, Anna Sebestyen, Judit Papay, Andras Jeney, Zoltan Hujber, Charles D Burger, Cesar A Keller, Andras Khoor
Lymphangioleiomyomatosis (LAM) is a rare progressive cystic lung disease with features of a low-grade neoplasm. It is primarily caused by mutations in TSC1 or TSC2 genes. Sirolimus, an inhibitor of mTOR complex 1 (mTORC1), slows down disease progression in some, but not all patients. Hitherto, other potential therapeutic targets such as mTOR complex 2 (mTORC2) and various metabolic pathways have not been investigated in human LAM tissues. The aim of this study was to assess activities of mTORC1, mTORC2 and various metabolic pathways in human LAM tissues through analysis of protein expression...
June 6, 2018: Human Pathology
https://www.readbyqxmd.com/read/29874537/lymphangioleiomyomatosis
#2
Alyssa Sclafani, Paul VanderLaan
New England Journal of Medicine, Volume 378, Issue 23, Page 2224-2224, June 2018.
June 7, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29808303/single-lung-transplantation-for-lymphangioleiomyomatosis-a-single-center-experience-in-japan
#3
Hisashi Oishi, Tatsuaki Watanabe, Yasushi Matsuda, Masafumi Noda, Yutaka Ejima, Yoshikatsu Saiki, Kuniaki Seyama, Takashi Kondo, Yoshinori Okada
PURPOSE: Lung transplantation is accepted as an effective modality for patients with end-stage pulmonary lymphangioleiomyomatosis (LAM). Generally, bilateral lung transplantation is preferred to single lung transplantation (SLT) for LAM because of native lung-related complications, such as pneumothorax and chylothorax. It remains controversial whether SLT is a suitable surgical option for LAM. The objective of this study was to evaluate the morbidity, mortality and outcome after SLT for LAM in a lung transplant center in Japan...
May 28, 2018: Surgery Today
https://www.readbyqxmd.com/read/29764481/a-total-pleural-covering-of-absorbable-cellulose-mesh-prevents-pneumothorax-recurrence-in-patients-with-birt-hogg-dub%C3%A3-syndrome
#4
Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pulmonary cysts are innumerable and widely dispersed and cannot all be removed. We recently described a total pleural covering (TPC) that covers the entire visceral pleura with oxidized regenerated cellulose (ORC) mesh. TPC successfully prevented the recurrence of pneumothorax in LAM patients...
May 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29758070/rapamycin-independent-igf2-expression-in-tsc2-null-mouse-embryo-fibroblasts-and-human-lymphangioleiomyomatosis-cells
#5
Blanca E Himes, Kseniya Obraztsova, Lurong Lian, Maya Shumyatcher, Ryan Rue, Elena N Atochina-Vasserman, Stella K Hur, Marisa S Bartolomei, Jilly F Evans, Vera P Krymskaya
Lymphangioleiomyomatosis (LAM) is a rare, almost exclusively female lung disease linked to inactivating mutations in tuberous sclerosis complex 2 (TSC2), a tumor suppressor gene that controls cell metabolic state and growth via regulation of the mechanistic target of rapamycin (mTORC1) signaling. mTORC1 is frequently activated in human cancers and, although the mTORC1 inhibitor rapamycin has a cytostatic effect, it is, in general, unable to elicit a robust curative effect or tumor regression. Using RNA-Seq, we identified (1) Insulin-like Growth Factor (IGF2) as one of the genes with the highest fold-change difference between human TSC2-null and TSC2-expressing angiomyolipoma cells from a patient with LAM, and (2) the mouse IGF2 homolog Igf2, as a top-ranking gene according to fold change between Tsc2-/- and Tsc2+/+ mouse embryo fibroblasts (MEFs)...
2018: PloS One
https://www.readbyqxmd.com/read/29752013/-lymphedema-in-patients-treated-with-sirolimus-15-cases
#6
C Fourgeaud, L Simon, B Benoughidane, S Vignes
BACKGROUND: Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor used after organ transplantation and to treat vascular malformations. Among its adverse effects, limb lymphedema has been described. OBJECTIVE: The aim of this study was to analyze the clinical features, lymphoscintigraphy and lymphedema outcome in patients treated with sirolimus. PATIENTS AND METHODS: Monocentric retrospective study from January 2008 to September 2017 analyzing all consecutive patients having lymphedema occurring with sirolimus...
May 8, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29739412/immunohistological-features-related-to-functional-impairment-in-lymphangioleiomyomatosis
#7
Ellen Caroline Toledo do Nascimento, Bruno Guedes Baldi, Alessandro Wasum Mariani, Raquel Annoni, Ronaldo Adib Kairalla, Suzana Pinheiro Pimenta, Luiz Fernando Ferraz da Silva, Carlos Roberto Ribeiro Carvalho, Marisa Dolhnikoff
BACKGROUND: Lymphangioleiomyomatosis (LAM) is a low-grade neoplasm characterized by the pulmonary infiltration of smooth muscle-like cells (LAM cells) and cystic destruction. Patients usually present with airway obstruction in pulmonary function tests (PFTs). Previous studies have shown correlations among histological parameters, lung function abnormalities and prognosis in LAM. We investigated the lung tissue expression of proteins related to the mTOR pathway, angiogenesis and enzymatic activity and its correlation with functional parameters in LAM patients...
May 8, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29686563/pulmonary-lymphangioleiomyomatosis-associated-with-aggressive-renal-angiomyolipoma
#8
Allison Cooper, Laura Baugh, Shannon Kelley, Howard Huang, Joseph Guileyardo
Lymphangioleiomyomatosis (LAM) is a rare cystic pulmonary disease that may occur in association with mutations in the tuberous sclerosis genes or arise sporadically. The histologic hallmark of the disease is the "LAM" cell, a spindled to epithelioid smooth muscle-like cell that bears morphologic and immunohistochemical resemblance to the perivascular epithelioid cell tumors (PEComas). The origin of the "LAM" cell is unknown; emerging theories suggest that a member of the PEComa family, the renal angiomyolipoma, may be the primary source and that both LAM and angiomyolipomas are associated with the genetic syndrome tuberous sclerosis...
January 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29675687/clinical-characteristics-in-lymphangioleiomyomatosis-related-pulmonary-hypertension-an-observation-on-50-patients
#9
Xiuxiu Wu, Wenshuai Xu, Jun Wang, Xinlun Tian, Zhuang Tian, Kaifeng Xu
Lymphangioleiomyomatosis (LAM) is a rare diffuse cystic lung disease. Knowledge on LAM-related pulmonary hypertension (PH) is limited. This study aimed to analyze the clinical characteristics of LAM with elevated pulmonary artery pressure (PAP) and evaluate the potential efficacy of sirolimus. The study involved 50 LAM patients who underwent echocardiography. According to the tricuspid regurgitation velocity (TRV), these patients were divided into the TRV ≤ 2.8 m/s group and TRV > 2.8 m/s group. Both groups comprised 25 females with an average age of 38...
April 19, 2018: Frontiers of Medicine
https://www.readbyqxmd.com/read/29669930/tsc2-deficient-tumors-have-evidence-of-t-cell-exhaustion-and-respond-to-anti-pd-1-anti-ctla-4-immunotherapy
#10
Heng-Jia Liu, Patrick H Lizotte, Heng Du, Maria C Speranza, Hilaire C Lam, Spencer Vaughan, Nicola Alesi, Kwok-Kin Wong, Gordon J Freeman, Arlene H Sharpe, Elizabeth P Henske
Tuberous sclerosis complex (TSC) is an incurable multisystem disease characterized by mTORC1-hyperactive tumors. TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. Whether TSC-associated tumors will respond to immunotherapy is unknown. We report here that the programmed death 1 coinhibitory receptor (PD-1) is upregulated on T cells in renal angiomyolipomas (AML) and pulmonary lymphangioleiomyomatosis (LAM). In C57BL/6J mice injected with syngeneic TSC2-deficient cells, anti-PD-1 alone decreased 105K tumor growth by 67% (P < 0...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29666741/a-novel-mutation-in-tsc2-gene-a-34-year-old-female-with-pulmonary-lymphangioleiomyomatosis-with-concomitant-hepatic-lesions
#11
Mehdi Nadiri, Mortaza Raeisi, Seyed Ali Mousavi Aghdas
Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in reproductive age. Different mutations in TSC1 and TSC2 genes have been reported in the literature. Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease...
2018: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29661444/single-and-double-lung-transplantation-results-of-an-initial-experience-of-39-cases-in-cear%C3%A3-northeast-brazil
#12
A Gomes Neto, A S Monteiro Nogueira, I Lopes De Medeiros, R Fernandes Viana De Araujo, R Carvalho Santos, C M Sampaio Viana, F Moreira Batista Aguiar, L Gomes Catunda, L Araújo Aragão, R Fava Alencar
INTRODUCTION: The lung transplantation (LTx) program began in Ceará in 2011 and the first LTx was performed on June 11, 2011. The aim of this study was to present the initial results of the 6-year experience of our program. METHODS: We retrospectively reviewed our experience on LTx from June 2011 to August 2017. Data on recipients and transoperative and postoperative outcomes were recorded in a database. RESULTS: Twenty-two (56.4%) were single LTx, 15 (38...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29626599/expanding-the-histomorphologic-spectrum-of-tfe3-rearranged-pecomas
#13
Nolan Maloney, Krinio Giannikou, Joel Lefferts, Julia A Bridge, Konstantinos Linos
Perivascular epithelioid tumors (PEComas) are a family of mesenchymal neoplasms that have smooth muscle and melanocytic differentiation. They can be sporadic or associated with Tuberous Sclerosis Complex and commonly present in the kidney as angiomyolipoma or in the lung as pulmonary clear cell sugar tumors or lymphangioleiomyomatosis. However, they can present at any visceral or soft tissue site. They usually have a benign clinical course, but rarely can behave in a malignant fashion. Most PEComas demonstrate abnormalities of TSC2, but a recently described subset harbor TFE3 rearrangements that appear to be mutually exclusive of TSC2 alterations...
April 4, 2018: Human Pathology
https://www.readbyqxmd.com/read/29605474/hemodynamic-mechanisms-of-exercise-induced-pulmonary-hypertension-in-patients-with-lymphangioleiomyomatosis-the-role-of-exercise-stress-echocardiography
#14
Andrea Sonaglioni, Massimo Baravelli, Roberto Cassandro, Olga Torre, Davide Elia, Claudio Anzà, Sergio Harari
BACKGROUND: The pathogenesis of pulmonary hypertension (PH) in lymphangioleiomyomatosis (LAM) has not yet been completely clarified. The aim of this study was to conduct a noninvasive evaluation of the main hemodynamic mechanisms of exercise-induced PH in patients with LAM, assessed using exercise stress echocardiography. METHODS: Fifteen patients with LAM (mean age, 47 ± 13 years; all women) without resting PH were enrolled in a prospective single-center study and compared with 15 healthy female control subjects (mean age, 45...
March 28, 2018: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29605286/pulmonary-hypertension-in-patients-with-interstitial-lung-disease
#15
REVIEW
Theodoros Karampitsakos, Argyrios Tzouvelekis, Serafeim Chrysikos, Demosthenes Bouros, Iraklis Tsangaris, Wassim H Fares
Interstitial lung diseases (ILDs) comprise a broad and heterogeneous group of more than two hundred diseases with common functional characteristics. Their diagnosis and management require a multidisciplinary approach. This multidisciplinary approach involves the assessment of comorbid conditions including pulmonary hypertension (PH) that exerts a dramatic impact on survival. The current World Health Organization (WHO) classification of PH encompasses many of the interstitial lung diseases into WHO Group 3, while sarcoidosis, Pulmonary Langerhans Cell Histiocytosis and lymphangioleiomyomatosis are placed into WHO Group 5 as diseases with unclear or multifactorial mechanisms...
June 2018: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29587809/assessing-the-outcomes-of-everolimus-on-renal-angiomyolipoma-associated-with-tuberous-sclerosis-complex-in-china-a-two-years-trial
#16
Yi Cai, Hao Guo, Wenda Wang, Hanzhong Li, Hao Sun, Bing Shi, Yushi Zhang
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors. Renal angiomyolipoma (RAML) occur in up to 80% of TSC patients, which is a leading cause of TSC-related death in adult patients. The aim of the study was to evaluate the efficacy and safety profiles of everolimus in Chinese patients of TSC associated with RAML(TSC-RAML). METHODS: In this 2-years, nonrandomized, open-label trial, 18 patients of TSC-RAML, with at least one RAML 3 cm or larger in its longest diameter, were enrolled to assess the efficacy and safety of everolimus therapy in Chinese patients...
March 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29577040/pseudoneutropenia-in-lymphangioleiomyomatosis-lam-patients-receiving-sirolimus-evaluation-in-a-100-patient-cohort
#17
Vissagan Gopalakrishnan, Amanda M Jones, Patricia Julien-Williams, Tania Machado, Robert L Danner, Jeffrey J Swigris, Robert Paine, Jay N Lozier, Joel Moss
In lymphangioleiomyomatosis patients receiving sirolimus treatment, transient leukopenia in the morning may be due to circadian rhythm, with leukocyte counts recovering later in the day, indicating that a decrease in drug dose may not be warranted http://ow.ly/jPFz30iysgV.
January 2018: ERJ Open Research
https://www.readbyqxmd.com/read/29569806/effect-of-everolimus-on-skin-lesions-in-patients-treated-for-subependymal-giant-cell-astrocytoma-and-renal-angiomyolipoma-final-4-year-results-from-the-randomised-exist-1-and-exist-2-studies
#18
D N Franz, K Budde, J C Kingswood, E Belousova, S Sparagana, P J de Vries, N Berkowitz, A Ridolfi, J J Bissler
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder associated with tumour growth in various organs, including the brain, kidneys, heart, and skin. Cutaneous lesions are prevalent manifestations in TSC, occurring in up to 90% of patients. Oral mammalian target of rapamycin inhibitors, such as everolimus, are believed to be effective for treatment of TSC-associated lesions because they act on the underlying disease pathophysiology. OBJECTIVE: We evaluated the long-term effect of oral everolimus on TSC-associated skin lesions as a secondary objective in the phase III studies EXIST-1 (NCT00789828) and EXIST-2 (NCT00790400) after approximately 4 years of treatment...
March 23, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29567892/sporadic-lymphangioleiomyomatosis-with-multiple-atypical-features-a-case-report-and-literature-review
#19
Xiaokang Wang, Fei Su, Fenfang Zhou, Maohui Feng
Lymphangioleiomyomatosis (LAM) is a rare, genetically determined, progressive interstitial lung disease, which almost exclusively affects women, especially at the childbearing age. The initial symptoms and radiographic changes in a patient with LAM are always associated with the respiratory system. Here, we present a case of mediastinal and abdominal LAM of a 22-year-old male, where LAM cells are negative for human melanoma black-45 ( HMB-45). The report of this uncharacterized LAM case will make a significant contribution to the realization of LAM associated clinical features, diagnostic approaches, and its afterward treatments...
January 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29556574/lymphangioleiomyomatosis-a-new-relative-contraindication-for-breast-conservation-therapy
#20
Matthew L Mallory, Melissa P Mitchell
No abstract text is available yet for this article.
January 2018: Advances in Radiation Oncology
keyword
keyword
69094
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"