1,980 results match your criteria Lymphangioleiomyomatosis

Long-term clinical course and outcomes in patients with lymphangioleiomyomatosis.

Respir Res 2022 Jun 18;23(1):158. Epub 2022 Jun 18.

Department of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43-Gil, Songpa-Gu, Seoul, 05505, Republic of Korea.

Background: Lymphangioleiomyomatosis (LAM) is a rare multisystemic disorder with various clinical manifestations. Despite the recognition of several prognostic factors, the long-term clinical course and prognosis of patients with LAM in the era of sirolimus therapy are not established.

Methods: The clinical data of 104 patients with LAM were retrospectively analyzed. Read More

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Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China.

Front Med (Lausanne) 2022 27;9:840709. Epub 2022 May 27.

Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with systemic organ involvement. So far, only a few TSC families in China have been reported. Therefore, more data on the clinical and genetic features of TSC families are required. Read More

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Disease monitoring using lung function trajectory in lymphangioleiomyomatosis: assessment in two national cohorts.

Thorax 2022 Jun 16. Epub 2022 Jun 16.

NIHR BRC and Biodiscovery Institute, University of Nottingham Faculty of Medicine and Health Sciences, Nottingham, UK

Study Question: In lymphangioleiomyomatosis, airflow obstruction and impairment of gas transfer progress at variable rates and serial lung function is recommended for disease monitoring. As these measurements are variable, recognising subjects needing treatment can be difficult. We used two prospective national cohorts to study change over time and variation in FEV to inform clinical decision making. Read More

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Unusual case of uterine intravascular leiomyomatosis with lymphatic spread to pelvic lymph nodes.

Int J Clin Exp Pathol 2022 15;15(5):238-240. Epub 2022 May 15.

Department of Pathology & Immunology, Baylor College of Medicine Houston, TX, USA.

Intravascular leiomyomatosis is a rare disease characterized by extension of benign smooth muscle proliferation into uterine and pelvic vessels. The involved vessels are almost always veins and rarely lymphatics. Intraarterial growth has not been described. Read More

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Impact of Age, Menopause and Sirolimus on Spontaneous Pneumothoraces in Lymphangioleiomyomatosis.

Chest 2022 Jun 2. Epub 2022 Jun 2.

Division of Pulmonary, Critical Care, and Sleep Medicine, University of Cincinnati, Ohio. Electronic address:

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Menstrual Cycle-Related Respiratory Symptom Variability in Patients with Lymphangioleiomyomatosis.

Ann Am Thorac Soc 2022 Jun 1. Epub 2022 Jun 1.

University of Cincinnati, Division of Pulmonary, Critical Care and Sleep Medicine. Department of Internal Medicine, Cincinnati, Ohio, United States.

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Multiple Cervicomediastinal Hamartomas Associated with Lymphangioleiomyomatosis.

Arch Bronconeumol 2022 Feb 12. Epub 2022 Feb 12.

Anesthesiology, Clinical Research Office, Ataturk University, Medical Faculty, Erzurum, Turkey; Department of Radiology, Duzce University, Medical Faculty, Duzce, Turkey.

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February 2022

Long-term clinical course and progression of lymphangioleiomyomatosis in a single lung transplant referral centre in Korea.

Sci Rep 2022 May 18;12(1):8260. Epub 2022 May 18.

Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Institute of Chest Diseases, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, 03722, Republic of Korea.

We aimed to describe the clinical features of lymphangioleiomyomatosis (LAM) in Korean patients and identify factors associated with progressive disease (PD). Clinical features of 54 patients with definite or probable LAM from 2005 to 2018 were retrospectively analysed. Common features were pneumothorax (66. Read More

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An Unusual Case of Severe Cystic Lung Disease: A Case Report and Review of the Literature.

Cureus 2022 Mar 24;14(3):e23442. Epub 2022 Mar 24.

Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.

Cystic lung diseases are a heterogeneous group of disorders with varying presentations and pathophysiology. They present as air-filled lung cysts that are prone to rupture and result in spontaneous pneumothoraxes. While pulmonary cysts are not uncommon, cysts presenting later in life with unclear etiology are rare and result in both a diagnostic and therapeutic challenge. Read More

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Tuberous sclerosis complex: a complex case.

Cold Spring Harb Mol Case Stud 2022 04 28;8(3). Epub 2022 Apr 28.

Department of Pathology, University of Otago, Dunedin 9016, New Zealand.

Tuberous sclerosis complex (TSC) is an inheritable disorder characterized by the formation of benign yet disorganized tumors in multiple organ systems. Germline mutations in the (hamartin) or more frequently (tuberin) genes are causative for TSC. The malignant manifestations of TSC, pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML), may also occur as independent sporadic perivascular epithelial cell tumor (PEComa) characterized by somatic mutations. Read More

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YouTube-videos for patient education in lymphangioleiomyomatosis?

Respir Res 2022 Apr 27;23(1):103. Epub 2022 Apr 27.

Center for Interstitial and Rare Lung Diseases, Dep. Pneumology, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.

Background: The Internet is commonly used by patients to acquire health information. To date, no studies have evaluated the quality of information available on YouTube regarding lymphangioleiomyomatosis (LAM). Our aim was to determine the quality and content of YouTube videos regarding LAM and to compare the information provided with current knowledge and guidelines about the disease. Read More

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Hierarchical cluster analysis based on disease-associated manifestations of patients with lymphangioleiomyomatosis: An analysis of the national database of designated intractable diseases of Japan.

Respir Investig 2022 Apr 12. Epub 2022 Apr 12.

First Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.

Background: Lymphangioleiomyomatosis (LAM) is a rare multisystem disease with variable manifestations and differing rates of progression among individuals. Classification of its phenotypes is an issue for consideration. We hypothesized that clinical manifestations associated with LAM cluster together and identifying these associations would be useful for identifying phenotypes. Read More

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Proteinases in the pathogenesis of lymphangioleiomyomatosis lung disease: nibbling or chewing up the lung?

Eur Respir J 2022 04 14;59(4). Epub 2022 Apr 14.

Division of Pulmonary Sciences and Critical Care Medicine, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

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Adverse Event Profiles of PARP Inhibitors: Analysis of Spontaneous Reports Submitted to FAERS.

Front Pharmacol 2022 25;13:851246. Epub 2022 Mar 25.

Department of Oncology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Several poly ADP ribose polymerase inhibitors (PARPis) are currently approved for the treatment of a variety of cancers. The safety profile of PARPis has not yet been systemically analyzed in the real world. We conducted this pharmacovigilance analysis using the US FDA's Adverse Event Reporting System (FAERS) database to explore the difference in adverse events (AEs) among PARPis. Read More

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X-ray Dark-field Chest Radiography of Lymphangioleiomyomatosis.

Radiology 2022 06 29;303(3):499-500. Epub 2022 Mar 29.

From the Department of Diagnostic and Interventional Radiology, School of Medicine & Klinikum Rechts der Isar, Technical University of Munich, Ismaninger Str 22, 81675 Munich, Germany (F.T.G., F.P.); and Department of Physics, School of Natural Sciences (F.P.), and Institute for Advanced Study (F.P.), Technical University of Munich, Garching, Germany.

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Extrapulmonary lymphangioleiomyomatosis presenting as uterine round ligament lesion: A case report.

Asian J Surg 2022 Mar 22. Epub 2022 Mar 22.

Department of Radiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, East Qingchun Road, Hangzhou, Zhejiang, 310016, PR China. Electronic address:

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Port J Card Thorac Vasc Surg 2021 Nov 7;28(3):69. Epub 2021 Nov 7.

Department of Cardiothoracic Surgery, Centro Hospitalar Universitário São João, Porto, Portugal.

A 40 years-old woman with a previous history of a right pneumothorax in 2013 had a left pneumothorax with persistent air leak in 2020. The computerized tomography scan of the chest described diffuse emphysematous changes with multiple "small bullae" in the upper lobes. She was submitted to mechanical and chemical pleurodesis with a wedge apical resection by uniportal video-assisted thoracic surgery. Read More

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November 2021

Pulmonary lymphangioleiomyomatosis (LAM): A literature overview and case report.

Radiol Case Rep 2022 May 21;17(5):1646-1655. Epub 2022 Mar 21.

Department of Radiology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam.

Lymphangioleiomyomatosis is a rare multisystem disease associated with genetic mutations. The disease usually occurs in women of childbearing age and is characterized by infiltration of immature smooth muscle cells into the lungs, airways, and axial lymphatic systems of the chest and abdomen. The disease often destroys lung parenchyma and produces air cysts. Read More

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Heart-Shaped Mediastinal Angiomyolipoma with Chylopericardium.

Ann Thorac Surg 2022 Mar 18. Epub 2022 Mar 18.

Division of Thoracic Surgery, Gaffrée e Guinle University Hospital - Federal University of the State of Rio de Janeiro (UNIRIO), Rio de Janeiro, Brazil.

Angiomyolipomas are benign mesenchymal tumors classified as PEComas, consisting of blood vessels, smooth muscle and fat, generally found in renal tissue. Extrarenal cases are uncommon and those of the mediastinum rare with only 23 reports in the literature. We present a successfully managed surgically case of a symptomatic 44-year-old woman with a large heart-shaped mediastinal angiomyolipoma in the right hemithorax associated with chylopericardium. Read More

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Sex and Gender in Lung Disease and Sleep Disorders: A State-of-the-Art Review.

Chest 2022 Mar 14. Epub 2022 Mar 14.

Division of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, CT. Electronic address:

The terms sex and gender often are used interchangeably, but have specific meaning when it comes to their effects on lung disease. Ample evidence is now available that sex and gender affect the incidence, susceptibility, presentation, diagnosis, and severity of many lung diseases. Some conditions are more prevalent in women, such as asthma. Read More

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Soluble Immune-Related Proteins as New Candidate Serum Biomarkers for the Diagnosis and Progression of Lymphangioleiomyomatosis.

Front Immunol 2022 1;13:844914. Epub 2022 Mar 1.

Department of Pulmonary and Critical Care Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: The goal of this study was to analyze serum from lymphangioleiomyomatosis (LAM) patients and healthy controls to identify novel biomarkers that could shed light on disease diagnosis and pathogenesis.

Methods: From April 2017 to October 2019, qualified serum samples were obtained to explore differences in 59 immune proteins between 67 LAM patients and 49 healthy controls by the Luminex method.

Results: We characterized 22 serum immune proteins that were differentially expressed in LAM patients compared with healthy people. Read More

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Something not so new for lymphangioleiomyomatosis: is VEGF-D a glass half empty or half full?

J Bras Pneumol 2022 03 14;48(1):e20220046. Epub 2022 Mar 14.

. Divisão de Pneumologia, Instituto do Coração - InCor - Hospital das Clinicas Faculdade de Medicina, Universidade de São Paulo, São Paulo (SP) Brasil.

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Diagnostic performance of VEGF-D for lymphangioleiomyomatosis: a meta-analysis.

J Bras Pneumol 2022 14;48(1):e20210337. Epub 2022 Mar 14.

. Department of Respiratory and Critical Care Medicine, Clinical Research Center for Respiratory Disease, West China Hospital, Sichuan University, Chengdu, China.

Objective: VEGF-D is a potential biomarker for lymphangioleiomyomatosis (LAM); however, its diagnostic performance has yet to be systematically studied.

Methods: We searched PubMed, EMBASE, Scopus, Web of Science, and Cochrane Library to identify primary studies on VEGF-D in relation to the diagnosis of LAM. The quality of the studies was evaluated using the Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2). Read More

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A survey of use of mTOR inhibitors in patients with lymphangioleiomyomatosis listed for lung transplant.

Respir Med 2022 Apr-May;195:106779. Epub 2022 Mar 4.

Division of Pulmonary and Critical Care, Loyola University Health System, Stritch School of Medicine, USA. Electronic address:

Background: Lymphangioleiomyomatosis (LAM) is an uncommon indication for lung transplantation. The use of mechanistic target of rapamycin (mTOR) inhibitors, which are the mainstay of treatment in progressive LAM, in patients awaiting lung transplant is controversial. We sought to examine worldwide practice patterns in use of mTOR inhibitors in LAM patients on the lung transplant waiting list. Read More

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Multifocal micronodular pneumocyte hyperplasia lacking typical clinical features of the tuberous sclerosis complex: a case report and literature review.

BMC Pulm Med 2022 Mar 5;22(1):77. Epub 2022 Mar 5.

Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.

Background: Multifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of the tuberous sclerosis complex (TSC) with distinctive histological characteristics. Most case reports of MMPH associated with TSC usually have a history and typical clinical features (seizures, mental retardation, and skin lesions) of TSC. We present a peculiar asymptomatic MMPH case that lacked the history and typical clinical features of TSC. Read More

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Pulmonary Langerhans Cell Histiocytosis and Lymphangioleiomyomatosis Have Circulating Cells With Loss of Heterozygosity of the TSC2 Gene.

Chest 2022 Feb 26. Epub 2022 Feb 26.

Division of Pulmonary and Critical Care Medicine, San Giuseppe Hospital MultiMedica IRCCS, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy; Department of Medicine, Ospedale San Giuseppe MultiMedica IRCCS, Milan, Italy.

Background: Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are cystic lung diseases in which a neoplastic cell is thought to be responsible for disease pathogenesis. The neoplastic LAM cell has mutations in the TSC genes, TSC1 or TSC2, whereas the neoplastic PLCH cell may have mutations in several genes (eg, BRAF, NRAS, MAP2K1). These mutations are not specific for PLCH and have been described in multiple cancers. Read More

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February 2022

ETV2 regulates PARP-1 binding protein to induce ER stress-mediated death in tuberin-deficient cells.

Life Sci Alliance 2022 05 18;5(5). Epub 2022 Feb 18.

Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA

Lymphangioleiomyomatosis (LAM) is a rare progressive disease, characterized by mutations in the tuberous sclerosis complex genes ( or ) and hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1). Here, we report that E26 transformation-specific (ETS) variant transcription factor 2 (ETV2) is a critical regulator of -deficient cell survival. ETV2 nuclear localization in -deficient cells is mTORC1-independent and is enhanced by spleen tyrosine kinase (Syk) inhibition. Read More

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Machine learning to distinguish lymphangioleiomyomatosis from other diffuse cystic lung diseases.

Respir Investig 2022 May 16;60(3):430-433. Epub 2022 Feb 16.

imvaria inc., USA. Electronic address:

Patients with lymphangioleiomyomatosis (LAM) frequently experience delays in diagnosis, owing partly to the delayed characterization of imaging findings. This project aimed to develop a machine learning model to distinguish LAM from other diffuse cystic lung diseases (DCLDs). Computed tomography scans from patients with confirmed DCLDs were acquired from registry datasets and a recurrent convolutional neural network was trained for their classification. Read More

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Understanding Lymphatic Anatomy and Abnormalities at Imaging.

Radiographics 2022 Mar-Apr;42(2):487-505. Epub 2022 Feb 18.

From the Department of Radiology, Divisions of Cardiothoracic Imaging (E.L., P.P.A.), Interventional Radiology (W.S.), and Body Imaging (W.R.M.), University of Michigan, University Hospital Floor B1, Reception C, 1500 E Medical Center Dr, SPC 5030, Ann Arbor, MI 48109; University of Pennsylvania Perelman School of Medicine, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (D.M.B.); and Department of Radiology, Division of Pediatric Radiology, University of Michigan, C.S. Mott Children's Hospital, Ann Arbor, Mich (M.L.T.).

Lymphatic abnormalities encompass a wide range of disorders spanning solitary common cystic lymphatic malformations (LMs) to entities involving multiple organ systems such as lymphangioleiomyomatosis. Many of these disorders are rare, yet some, such as secondary lymphedema from the treatment of malignancy (radiation therapy and/or lymph node dissection), affect millions of patients worldwide. Owing to complex and variable anatomy, the lymphatics are not as well understood as other organ systems. Read More

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Lung-selective mRNA delivery of synthetic lipid nanoparticles for the treatment of pulmonary lymphangioleiomyomatosis.

Proc Natl Acad Sci U S A 2022 02;119(8)

Department of Biomedical Engineering, Tufts University, Medford, MA 02155;

Safe and efficacious systemic delivery of messenger RNA (mRNA) to specific organs and cells in vivo remains the major challenge in the development of mRNA-based therapeutics. Targeting of systemically administered lipid nanoparticles (LNPs) coformulated with mRNA has largely been confined to the liver and spleen. Using a library screening approach, we identified that N-series LNPs (containing an amide bond in the tail) are capable of selectively delivering mRNA to the mouse lung, in contrast to our previous discovery that O-series LNPs (containing an ester bond in the tail) that tend to deliver mRNA to the liver. Read More

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February 2022