keyword
MENU ▼
Read by QxMD icon Read
search

Lymphangioleiomyomatosis

keyword
https://www.readbyqxmd.com/read/29686563/pulmonary-lymphangioleiomyomatosis-associated-with-aggressive-renal-angiomyolipoma
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
March 29, 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
#9
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
#10
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
#11
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
#12
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
#13
Matthew L Mallory, Melissa P Mitchell
No abstract text is available yet for this article.
January 2018: Advances in Radiation Oncology
https://www.readbyqxmd.com/read/29519926/rates-of-change-in-fev-1-and-dl-co-as-potential-indicators-for-mtor-inhibitor-therapy-in-pre-menopausal-lymphangioleiomyomatosis-patients
#14
Angelo M Taveira-DaSilva, Patricia Julien-Williams, Amanda M Jones, Mario Stylianou, Joel Moss
The value of rates of change in FEV1 and DLCO to predict disease progression, and initiation of mTOR inhibitor therapy has not been evaluated.In 84 pre-menopausal LAM patients, individual rates of change in FEV1 and DLCO and 95% confidence intervals (CI), were used to derive subsequent lowest values of FEV1 and DLCO that would prompt initiation of sirolimus therapy. These treatment criteria were compared with one based on FEV1 or DLCO ≤70% predicted. In 12 patients undergoing sirolimus therapy both methods for determining the optimal point for initiation of therapy were evaluated...
March 8, 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/29506640/a-rare-case-of-complicated-pericardial-effusion-with-elizabethkingia-meningoseptica-from-iran
#15
Hadi Sedigh Ebrahim-Saraie, Hamid Heidari, Reza Khashei, Seyed Hesamedin Nabavizadeh
Infections due to Elizabethkingia meningoseptica, a Gram-negative oxidative bacterium are frequently founded in neonatal and immunocompromised individuals. The notable characteristic of this organism is its multi-drug resistance to common antibiotics used for infections caused by Gram-negative bacteria. We report a rare case of complicated pericardial effusion due to E. meningoseptica in a 2-year-old boy, who was admitted with chief complaints of fever and tachypnea (mentioned by his parents) and suffered from a rare lung malignancy (lymphangioleiomyomatosis)...
February 28, 2018: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/29487252/pulmonary-lymphangioleiomyomatosis-presenting-as-spontaneous-pneumothorax-treated-with-sirolimus-a-case-report
#16
Ajay Kumar Verma, Ambarish Joshi, Amritesh Ranjan Mishra, Surya Kant, Arpita Singh
Spontaneous pneumothorax is a very common medical emergency. Patients are often treated without treating the underlying cause. Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease. Until recently, diagnosis of LAM was a challenge with nearly 100% mortality in 10 years, but better understanding of the disease through research and better radiological techniques and newer drugs such as sirolimus has improved the survival in such patients. We are presenting a rare case of LAM presenting as a secondary spontaneous pneumothorax treated with sirolimus...
March 2018: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/29476190/pattern-of-tsc1-and-tsc2-germline-mutations-in-russian-patients-with-tuberous-sclerosis
#17
Evgeny N Suspitsin, Grigoriy A Yanus, Marina Yu Dorofeeva, Tatiana A Ledashcheva, Nataliya V Nikitina, Galina V Buyanova, Elena V Saifullina, Anna P Sokolenko, Evgeny N Imyanitov
Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with definite (n = 53) or probable (n = 8) clinical diagnosis of TS were tested for mutations in TSC1 and TSC2 genes using Sanger sequencing and MLPA analysis. Five TSC1/2 mutation-negative patients were further analyzed by exome sequencing...
February 23, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29469631/reply-to-renal-lesions-in-lymphangioleiomyomatosis-and-tuberous-sclerosis-complex-are-rarely-biologically-aggressive
#18
Nilo A Avila, A J Dwyer, J Moss
No abstract text is available yet for this article.
March 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29469627/renal-lesions-in-lymphangioleiomyomatosis-and-tuberous-sclerosis-complex-are-rarely-biologically-aggressive
#19
Andrew T Trout, Alexander J Towbin, David N Franz
No abstract text is available yet for this article.
March 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29458386/functional-improvements-in-patients-with-lymphangioleiomyomatosis-after-sirolimus-an-observational-study
#20
Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian, Kai-Feng Xu
BACKGROUND: Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients. METHODS: We analyzed data from 98 patients who were diagnosed with definite or probable sporadic LAM based on the European Respiratory Society diagnosis criteria for LAM in 2010 at Peking Union Medical College Hospital and who had received sirolimus during January 2007 to June 2015...
February 20, 2018: Orphanet Journal of Rare Diseases
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"