1,881 results match your criteria Lymphangioleiomyomatosis

αB-crystallin/HSPB2 is critical for hyperactive mTOR-induced cardiomyopathy.

J Cell Physiol 2021 Jun 8. Epub 2021 Jun 8.

State Key Laboratory of Medical Molecular Biology, Department of Physiology, Institute of Basic Medical Sciences and School of Basic Medicine, Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Even though aberrant mechanistic target of rapamycin (mTOR) signaling is known to cause cardiomyopathy, its underlying mechanism remains poorly understood. Because augmentation of αB-crystallin and hspB2 was presented in the cortical tubers and lymphangioleiomyomatosis of tuberous sclerosis complex patients, we deciphered the role of αB-crystallin and its adjacent duplicate gene, hspB2, in hyperactive mTOR-induced cardiomyopathy. Cardiac Tsc1 deletion (T1-hKO) caused mouse mTOR activation and cardiomyopathy. Read More

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Oxygen-enhanced functional lung imaging using a contemporary 0.55 T MRI system.

NMR Biomed 2021 Jun 2:e4562. Epub 2021 Jun 2.

Cardiovascular Branch, Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States.

The purpose of this study was to evaluate oxygen-enhanced pulmonary imaging at 0.55 T with 3D stack-of-spirals ultrashort-T (UTE) acquisition. Oxygen-enhanced pulmonary MRI offers the measurement of regional lung ventilation and perfusion using inhaled oxygen as a contrast agent. Read More

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Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature.

Orphanet J Rare Dis 2021 Jun 2;16(1):250. Epub 2021 Jun 2.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe-University Frankfurt, Schleusenweg 2-16, 60528, Frankfurt am Main, Germany.

Background: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC.

Methods: A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket (OOP), and nursing care-level costs among adult individuals with TSC throughout Germany from a societal perspective (costing year: 2019). Read More

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Feasibility and Long-Term Efficacy of PEComa Treatment-20 Years of Experience.

J Clin Med 2021 May 19;10(10). Epub 2021 May 19.

Department of Soft Tissue/Bone, Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, 02-781 Warsaw, Poland.

Perivascular epithelioid cell tumors (PEComas) represent a family of rare mesenchymal neoplasms, some of which are malignant. There are no specific management guidelines for PEComas, and factors correlating with the disease course are not well defined. This analysis aimed to describe the outcomes of PEComa patients treated radically, including those treated exclusively in the national reference sarcoma center. Read More

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Improving Survival in Lymphangioleio-myomatosis: A 16-Year Observational Study in a Large Cohort of Patients.

Respiration 2021 May 27:1-11. Epub 2021 May 27.

Unità di Pneumologia e Terapia Semi-Intensiva Respiratoria, Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe, MultiMedica IRCCS, Milan, Italy.

Background: Over the last 2 decades, great progress has been made in the understanding of the clinical aspects and pathogenesis of lymphangioleiomyomatosis (LAM), leading to publication of guidelines and approval of an effective therapy.

Objectives: Aim of our study was to describe how the management and the natural history of this rare disease have changed after the publication of the ERS and American Thoracic Society/Japanese Respiratory Society guidelines and the introduction of sirolimus.

Methods: We examined 162 LAM patients followed at our center between 2001 and 2017, reporting clinical characteristics and diagnostic approach. Read More

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Sex and Gender Differences in Lung Disease.

Adv Exp Med Biol 2021 ;1304:227-258

Clinical Simulation Center, The Pennsylvania State University College of Medicine, Hershey, PA, USA.

Sex differences in the anatomy and physiology of the respiratory system have been widely reported. These intrinsic sex differences have also been shown to modulate the pathophysiology, incidence, morbidity, and mortality of several lung diseases across the life span. In this chapter, we describe the epidemiology of sex differences in respiratory diseases including neonatal lung disease (respiratory distress syndrome, bronchopulmonary dysplasia) and pediatric and adult disease (including asthma, cystic fibrosis, idiopathic pulmonary fibrosis, chronic obstructive pulmonary disease, lung cancer, lymphangioleiomyomatosis, obstructive sleep apnea, pulmonary arterial hypertension, and respiratory viral infections such as respiratory syncytial virus, influenza, and SARS-CoV-2). Read More

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Spindle cell lesion on fine needle aspiration as an initial step for diagnosis of lymphangioleiomyomatosis: Report of a rare case.

Diagn Cytopathol 2021 May 17. Epub 2021 May 17.

Department of Pathology, MedStar Georgetown University Hospital, Washington, District of Columbia, USA.

Lymphangioleiomyomatosis (LAM) is a rare systemic disease of women of reproductive age characterized by proliferation of abnormal smooth muscle like cells (LAM cells). Patients with LAM characteristically present with chronic dyspnea and cough and less commonly with spontaneous pneumothorax. Manifestation of extrapulmonary LAM as an initial presenting symptom is rare with a renal angiomyolipoma and lymphangioleiomyoma being most common. Read More

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Long-term results of sirolimus treatment in lymphangioleiomyomatosis: a single referral centre experience.

Sci Rep 2021 May 13;11(1):10171. Epub 2021 May 13.

Lung Transplant Program, Department of Pulmonology, Departament de Medicina, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Passeig Vall d'Hebron, 119-129, 08035, Barcelona, Spain.

There are few published data on long-term treatment with sirolimus in lymphangioleiomyomatosis (LAM). The objective of this study was to describe the long-term effect of sirolimus in a series of LAM patients followed up in a referral centre, focusing on pulmonary function. We retrospectively reviewed a series of 48 patients with LAM diagnosed, followed up and treated with sirolimus in a single centre. Read More

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Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study.

Front Med (Lausanne) 2021 26;8:605909. Epub 2021 Apr 26.

Respiratory Unit, Azienda Socio Sanitaria Territoriale - Papa Giovanni XXIII Hospital, Bergamo, Italy.

Lymphangioleiomyomatosis can develop in a sporadic form (S-LAM) or in women with tuberous sclerosis complex (TSC). The matrix metalloproteinases (MMPs) are extracellular matrix-degrading enzymes potentially involved in cystic lung destruction, and in the process of migration of LAM cells. The aim of the study was to explore the role of MMP-2 and MMP-7, such as vascular endothelial growth factor (VEGF) -C and -D in women with LAM, including patients with minor pulmonary disease (i. Read More

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Raising the Flag for Mast Cells as a Novel Target in LAM.

Monica Goldklang

Am J Respir Crit Care Med 2021 May 5. Epub 2021 May 5.

Columbia University Irving Medical Center, 21611, Departments of Anesthesiology and Medicine, New York, New York, United States;

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The value of transbronchial lung biopsy in the diagnosis of lymphangioleiomyomatosis.

BMC Pulm Med 2021 May 3;21(1):146. Epub 2021 May 3.

Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, 100730, China.

Background: Transbronchial lung biopsy (TBLB) in the diagnosis of lymphangioleiomyomatosis (LAM) is not a common approach, although TBLB is often performed in diffuse lung diseases. We aimed to examine the diagnostic value and safety of TBLB in LAM patients based on the data collected in our center.

Methods: We reviewed LAM patients registered in our LAM Clinic from December 8, 2006, to December 31, 2019. Read More

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and Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype?

Ann Am Thorac Soc 2021 05;18(5):775-777

Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.

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Connectivity Map Analysis of a Single-Cell RNA-Sequencing -Derived Transcriptional Signature of mTOR Signaling.

Int J Mol Sci 2021 Apr 22;22(9). Epub 2021 Apr 22.

Division of Biostatistics and Bioinformatics, Department of Environmental and Public Health Sciences, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.

In the connectivity map (CMap) approach to drug repositioning and development, transcriptional signature of disease is constructed by differential gene expression analysis between the diseased tissue or cells and the control. The negative correlation between the transcriptional disease signature and the transcriptional signature of the drug, or a bioactive compound, is assumed to indicate its ability to "reverse" the disease process. A major limitation of traditional CMaP analysis is the use of signatures derived from bulk disease tissues. Read More

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Lymphangioleiomyomatosis associated with prolactinoma: A case report and literature review.

Respir Med Case Rep 2021 28;33:101406. Epub 2021 Mar 28.

Department of Respiratory Medicine, Iizuka Hospital, Iizuka, Japan.

The thirty-five-year-old woman had been experiencing dyspnea on exertion since her second child's birth five years before presenting to hospital A, where she was diagnosed with lymphangioleiomyomatosis (LAM) based on video-assisted thoracoscopic surgery lung biopsy and referred to our hospital. She was treated with sirolimus for one year. Although her subjective symptom of dyspnea improved, she found that her amenorrhea had persisted for six years. Read More

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Use and outcomes of kidneys from donors with renal angiomyolipoma: A systematic review.

Urol Ann 2021 Jan-Mar;13(1):67-72. Epub 2021 Jan 19.

Department of Internal Medicine, Division of Nephrology, University of Mississippi Medical Center, Jackson, Mississippi, USA.

Background: Renal angiomyolipoma (AML) is the most frequent mesenchymal tumor of the kidney. Although there is a rare possibility of malignant transformation of AML, this risk has not been studied in immunosuppressed patients. The safety of donors with AML and their kidney transplant recipients has not been well established. Read More

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January 2021

Asymptomatic lymphangioleiomyomatosis: Large cyst mimicking a hydropneumothorax in a healthy patient.

Radiol Case Rep 2021 Jun 2;16(6):1325-1328. Epub 2021 Apr 2.

Thoracic Surgery Unit, Policlinico G. Martino, Hospital of the University of Messina, 98125 Messina, Italy.

Lymphangioleiomyomatosis (LAM) is a rare, idiopathic, cystic disease that affects lungs of young women at childbearing age. Usually, LAM clinical manifestations are pneumothorax, progressive dyspnea and chylous pleural effusions. In many cases, due to unusual and nonspecific symptoms, LAM is mis-recognized and patients, who are affected by such disease, receive delayed diagnosis. Read More

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TSC2 Interacts with HDLBP/Vigilin and Regulates Stress Granule Formation.

Mol Cancer Res 2021 Apr 22. Epub 2021 Apr 22.

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

Tuberous sclerosis complex (TSC) is caused by mutations of either the or tumor suppressor gene. TSC causes tumors of the brain, heart, kidney, skin and lymphangioleiomyomatosis (LAM). Here we report that the TSC2 protein physically binds to high-density lipoprotein binding protein (HDLBP), also called vigilin, a core stress granule (SG) protein, and that TSC2 localizes to SGs. Read More

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Mast Cell Tryptase Release Contributes to Disease Progression in Lymphangioleiomyomatosis.

Am J Respir Crit Care Med 2021 Apr 21. Epub 2021 Apr 21.

University of Nottingham, Division of Respiratory Medicine, Biodiscovery Institute and NIHR Biomedical Research Centre, Nottingham, United Kingdom of Great Britain and Northern Ireland;

Rationale: Lymphangioleiomyomatosis is a multisystem disease causing lung cysts and respiratory failure. Loss of tuberous sclerosis complex (TSC) gene function results in a clone of 'LAM cells' with dysregulated mTOR activity. LAM cells and fibroblasts form lung nodules that also contain mast cells although their significance is unknown. Read More

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The effect of sirolimus on angiomyolipoma is determined by decrease of fat-poor compartments and includes striking reduction of vascular structures.

Sci Rep 2021 Apr 19;11(1):8493. Epub 2021 Apr 19.

Division of Nephrology, Department of Medicine, University of São Paulo School of Medicine, Avenida Dr. Arnaldo, 455 - Sala 4304, São Paulo, 01246-903, Brazil.

Renal angiomyolipomas hemorrhage is associated with their size and vascular constitution. The effects of sirolimus on different components of angiomyolipomas was analyzed in patients with tuberous sclerosis complex, sporadic lymphangioleiomyomatosis and multiple sporadic angiomyolipomas. Thirty angiomyolipomas from 14 patients treated with sirolimus were retrospectively evaluated. Read More

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Isolation and characterisation of lymphatic endothelial cells from lung tissues affected by lymphangioleiomyomatosis.

Sci Rep 2021 Apr 16;11(1):8406. Epub 2021 Apr 16.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo; Bunkyoku, Tokyo, 113-8431, Japan.

Lymphangioleiomyomatosis (LAM) is a rare pulmonary disease characterised by the proliferation of smooth muscle-like cells (LAM cells), and an abundance of lymphatic vessels in LAM lesions. Studies reported that vascular endothelial growth factor-D (VEGF-D) secreted by LAM cells contributes to LAM-associated lymphangiogenesis, however, the precise mechanisms of lymphangiogenesis and characteristics of lymphatic endothelial cells (LECs) in LAM lesions have not yet been elucidated. In this study, human primary-cultured LECs were obtained both from LAM-affected lung tissues (LAM-LECs) and normal lung tissues (control LECs) using fluorescence-activated cell sorting (FACS). Read More

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Activated p53 in the anti-apoptotic milieu of tuberous sclerosis gene mutation induced diseases leads to cell death if thioredoxin reductase is inhibited.

Apoptosis 2021 Jun 16;26(5-6):253-260. Epub 2021 Apr 16.

Department of Pharmaceutical Biotechnology, University of Pecs, Pecs, Hungary.

Tuberous sclerosis, angiomyolipoma and lymphangioleiomyomatosis are a group of diseases characterized by mutation in tuberous sclerosis genes (TSC 1-2). TSC mutation leads to continuous activation of the mTOR pathway that requires adaptation to increased ATP requirement. With limited treatment options, there is an increasing demand to identify novel therapeutic targets and to understand the correlations between mTOR pathway activation and the lack of cell death in the presence of TSC mutation. Read More

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A Case of Burnt-Out Langerhans Cell Histiocytosis Presenting as Postpartum Hypopituitarism.

AACE Clin Case Rep 2021 Jan-Feb;7(1):47-50. Epub 2020 Dec 28.

Department of Endocrinology, Townsville University Hospital, Douglas, Queensland, Australia.

Objective: To evaluate the case of a woman who presented with central hypogonadism and diabetes insipidus and further developed a persistent cough leading to an unexpected diagnosis of burnt-out Langerhans cell histiocytosis (LCH).

Methods: Clinical and laboratory endocrine evaluation, magnetic resonance imaging, high-resolution computed tomography, and open-lung biopsy results are discussed.

Results: A 28-year-old woman presented at 10 months postpartum with polydipsia, polyuria, and amenorrhea for 3 months. Read More

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December 2020

[Tuberous sclerosis system: A review].

Rev Med Interne 2021 Apr 6. Epub 2021 Apr 6.

Service de néphrologie, transplantation, dialyse et aphérèses, hôpital Pellegrin, CHU de Bordeaux, place Amélie-Raba-Léon, 33076 Bordeaux, France; Inserm U1026, BioTis, université de Bordeaux, 33076 Bordeaux, France.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. TSC1 or TSC2 gene mutation lead to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular proliferation. Read More

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Uncommon radiologic computed tomography appearances of the chest in patients with lymphangioleiomyomatosis.

Sci Rep 2021 Mar 30;11(1):7170. Epub 2021 Mar 30.

Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo, 113-8431, Japan.

Lymphangioleiomyomatosis (LAM) is a rare destructive lung disease characterized by multiple thin-walled pulmonary cysts. The currently proposed diagnostic algorithm emphasizes the characteristic cystic appearance on high-resolution computed tomography (HRCT) so uncommon HRCT appearances present challenges to establishing the proper LAM diagnosis. The objective of this study is to accrue uncommon chest HRCT appearances, determine frequencies in both tuberous sclerosis complex (TSC)-associated LAM (TSC-LAM) and sporadic LAM (S-LAM) patients. Read More

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Quantitative Analysis of Cystic Lung Diseases by Use of Paired Inspiratory and Expiratory CT: Estimation of the Extent of Cyst-Airway Communication and Evaluation of Diagnostic Utility.

Radiol Cardiothorac Imaging 2020 Apr 30;2(2):e190097. Epub 2020 Apr 30.

Departments of Radiology (K. Suzuki, R.K.) and Respiratory Medicine (K. Seyama, H.E.), Juntendo University Faculty of Medicine and Graduate School of Medicine, 3-1-3, Hongo, Bunkyo-ku, Tokyo 113-8431, Japan; Department of Thoracic Surgery, Tokyo Metropolitan Bokutoh Hospital, Tokyo, Japan (H.E.); and Department of Pathology, Japanese Red Cross Medical Center, Tokyo, Japan (T.K.).

Purpose: To establish a method for quantitatively estimating the extent of the communication between the cyst and the airway in cystic lung diseases (CLDs) and evaluate its diagnostic utility in differentiating among CLDs.

Materials And Methods: Seventy-one patients (mean age, 49.9 years; age range, 25-79 years) with CLDs who underwent paired inspiratory and expiratory CT between July 2015 and July 2018 were enrolled in this prospective study. Read More

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CT findings of pulmonary cysts.

Clin Radiol 2021 Jul 16;76(7):548.e1-548.e12. Epub 2021 Mar 16.

Department of Pulmonology, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Santiago de Compostela, Spain.

Pulmonary cysts are thin-walled radiolucent lesions that may appear in a variety of uncommon disorders known as diffuse cystic lung diseases (DCLD) that essentially includes lymphangioleiomyomatosis (LAM), Langerhans cell histiocytosis (LCH), lymphocytic interstitial pneumonia (LIP), Pneumocystis jiroveci pneumonia (PJP), and Birt-Hogg-Dubé syndrome (BHDS). Moreover, they have been reported in several cases of coronavirus disease 2019 (COVID-19). The purpose of this review is to provide a practical approach for evaluating lung cysts when encountered on CT. Read More

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Pregnancy after the diagnosis of lymphangioleiomyomatosis (LAM).

Orphanet J Rare Dis 2021 03 17;16(1):133. Epub 2021 Mar 17.

Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Background: Lymphangioleiomyomatosis (LAM) is a rare disease that almost exclusively affects women of reproductive age. Patients are warned of the increased risks if they become pregnant. However, information on pregnancy in patients after the diagnosis of LAM is limited. Read More

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Chylous Ascites as a Presentation of Lymphangioleiomyomatosis.

ACG Case Rep J 2021 Mar 3;8(3):e00517. Epub 2021 Mar 3.

Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA.

A 35-year-old woman presented to the hospital with a 4-week history of large-volume chylous ascites refractory to paracentesis and new-onset dyspnea. Thoracic computed tomography revealed diffuse pulmonary cystic lesions with pleural effusions, and abdominal computed tomography showed ascites with large bilateral retroperitoneal masses displaying positron emission tomography avidity. Biopsy of the masses demonstrated lymphatic invasion by a perivascular epithelioid cell neoplasm, a smooth muscle tumor. Read More

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CrossTORC and WNTegration in Disease: Focus on Lymphangioleiomyomatosis.

Int J Mol Sci 2021 Feb 24;22(5). Epub 2021 Feb 24.

Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

The mechanistic target of rapamycin (mTOR) and wingless-related integration site (Wnt) signal transduction networks are evolutionarily conserved mammalian growth and cellular development networks. Most cells express many of the proteins in both pathways, and this review will briefly describe only the key proteins and their intra- and extracellular crosstalk. These complex interactions will be discussed in relation to cancer development, drug resistance, and stem cell exhaustion. Read More

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February 2021

A Retrospective Study of Lung Transplantation in Patients With Lymphangioleiomyomatosis: Challenges and Outcomes.

Front Med (Lausanne) 2021 16;8:584826. Epub 2021 Feb 16.

Wuxi Lung Transplant Center, Wuxi People's Hospital Affiliated to Nanjing Medical University, Wuxi, China.

Lymphangioleiomyomatosis (LAM) is a rare systemic disease that generally leads to a progressive decline in pulmonary function. Experience, especially from the Asian population, including combined drug therapy before and after lung transplantation (LT) in LAM, is still limited. This study aimed to summarize the clinical data from patients with pulmonary LAM who underwent LT at centers in China. Read More

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February 2021