2,204 results match your criteria: "Lymphangioleiomyomatosis"
Adrenal PEComa Treated by Surgical Resection and Postoperative Radiotherapy: A Case Report.
Am J Case Rep
December 2024
Department of Pathology, Eskişehir City Hospital, Eskişehir, Turkey.
BACKGROUND Perivascular epitheloid cell neoplasm (PEComa) is a rare mesenchymal tumor that is evaluated in the same tumor family as angiomyolipoma, sugar cell tumor of the lung, and lymphangioleiomyomatosis. Immunohistochemically, the disease can express melanocytic and myogenic markers, such as HMB45, HMSA1, MelanA/Mart1, and actin. The disease can be seen in almost every organ, especially the uterus and retroperitoneum.
View Article and Find Full Text PDFPericardial Effusion as a Presentation of Lymphangioleiomyomatosis.
Cureus
November 2024
Internal Medicine, Unidade Local de Saúde de Braga, Braga, PRT.
Lymphangioleiomyomatosis (LAM) is a rare, systemic neoplastic disease that primarily affects women of childbearing age. The disease can arise sporadically or in association with tuberous sclerosis. It is characterized by the proliferation of abnormal smooth muscle-like cells, leading to cystic lung destruction, accumulation of chylous fluid, and development of abdominal tumors.
View Article and Find Full Text PDFTuberous Sclerosis Complex Demonstrated on 18F-FDG PET/CT.
Clin Nucl Med
December 2024
From the Department of Nuclear Medicine, University of Health Sciences, Kartal Dr Lutfi Kirdar City Hospital, Istanbul, Turkey.
Article Synopsis
Primary thymic mucosa-associated lymphoid tissue (MALT) lymphoma with Sjogren's syndrome and diffuse cystic lung disease: a complex respiratory presentation of a multifaceted autoimmune disease.
BMJ Case Rep
December 2024
University of New South Wales Faculty of Medicine, Sydney, New South Wales, Australia
Article Synopsis
- - Mucosa-associated lymphoid tissue (MALT) lymphoma is a rare B-cell lymphoma that can affect various organs, and patients with Sjögren's syndrome (SjS) have significantly higher risks of developing it.
- - A case study is presented of primary thymic MALT lymphoma found incidentally during routine chest imaging, alongside cystic lung disease, primarily observed in women with SjS.
- - Imaging techniques revealed a large mass in the mediastinum and numerous pulmonary cysts; the diagnosis was confirmed via biopsy, and treatment improved lung function, emphasizing the link between SjS and MALT lymphoma's lung manifestations.
Unlocking the clinical potential of paired inspiratory and expiratory CT scans in the differential diagnosis of cystic lung diseases: A systematic review.
PLoS One
December 2024
Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Article Synopsis
The development for emerging biomarkers of lymphangioleiomyomatosis.
Orphanet J Rare Dis
November 2024
Department of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, 410011, China.
Lymphangioleiomyomatosis (LAM) is a rare, slowly progressing, low-grade metastatic tumor primarily affecting women. Currently, vascular endothelial growth factor-D (VEGF-D) is the only validated diagnostic biomarker, enabling diagnosis of LAM without the need for lung biopsy in appropriate clinical settings. However, VEGF-D concentrations are normal in about 30% of patients, rendering it insufficient for diagnosing all cases of LAM.
View Article and Find Full Text PDFFeatures of Lung Cysts in Birt-Hogg-Dubé Syndrome from Patients with Multiple Lung Cysts.
Tuberc Respir Dis (Seoul)
November 2024
Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 04763, Republic of Korea.
Article Synopsis
- High-resolution chest CT scans are essential for diagnosing Birt-Hogg-Dubé syndrome (BHD) and this study investigates how lung cysts in BHD differ from those in other cystic lung diseases.
- In a retrospective analysis of 52,823 patients, 301 were identified with multiple lung cysts, with 24 (8%) diagnosed with BHD; most BHD patients showed bilateral cysts and larger sizes compared to other conditions.
- The study established a predictive model with high sensitivity (95.83%) and specificity (81.22%) to identify BHD based on characteristics like cyst location, size, and diversity, aiding in the diagnosis of previously undetected cases.
Evolution of DL in LAM: Historical Perspectives and the Role of Advanced Imaging.
Chest
November 2024
Critical Care Medicine and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1590, USA. Electronic address:
Article Synopsis
- Lymphangioleiomyomatosis (LAM) is a rare lung disease in women caused by abnormal growth of smooth muscle-like cells, impacting the lungs and lymphatic system.
- The evaluation of LAM's progression often relies on two key tests: Forced Expiratory Volume (FEV) and Diffusing Capacity for Carbon Monoxide (DL), though changes may affect one more than the other.
- Recent advancements emphasize the importance of modern imaging techniques and the LAM Histology Score (LHS) in understanding disease stages, highlighting that smaller cysts significantly impact DL, despite larger cysts being more visually apparent in scans.
The Bi-Steric Inhibitor RMC-5552 Reduces mTORC1 Signaling and Growth in Lymphangioleiomyomatosis.
Am J Respir Cell Mol Biol
November 2024
University of Pennsylvania Perelman School of Medicine, Medicine, Philadelphia, Pennsylvania, United States.
Article Synopsis
- * The only approved treatment, Rapamycin, offers limited benefits as lung function declines after stopping the drug, with LAM cancer stem-like cells displaying high levels of cancer-promoting protein synthesis.
- * A new compound, RMC-5552, shows promise by effectively inhibiting LAM-associated cell growth and providing longer-lasting effects than Rapamycin, suggesting it could be a potential therapy for LAM and other conditions with mTORC1 hyperactivity.
Lymphangioleiomyomatosis: A Review.
Arch Pathol Lab Med
November 2024
The Department of Pathology, SUNY Downstate Health Sciences University, Brooklyn, New York (Rosen).
Article Synopsis
- Lymphangioleiomyomatosis is a rare disease mostly affecting women of childbearing age, characterized by the abnormal growth of smooth muscle-like cells in the lungs, leading to various respiratory issues, including potential respiratory failure.
- The disease is influenced by hormonal factors and exhibits a range of symptoms, from shortness of breath to chest pain, necessitating a thorough understanding of its pathogenesis for effective diagnosis and treatment.
- Recent advancements in medical research have improved diagnostic methods and therapeutic approaches, although significant gaps remain regarding the disease's pathophysiology and the role of the immune system, highlighting the need for a multidisciplinary approach in patient care.
Enhanced Gαq Signaling in -deficient Cells Is Required for Their Neoplastic Behavior.
Am J Respir Cell Mol Biol
November 2024
Research Institute of the McGill University Health Centre, Respiratory Program and Meakins-Christie Laboratories, Montreal, Quebec, Canada.
Article Synopsis
- Inherited or sporadic loss of a specific gene can lead to pulmonary lymphangioleiomyomatosis (LAM), a rare lung disease caused by tumor nodules that display characteristics of neural crest and smooth muscle cells.
- The abnormal growth of these "LAM cells" is linked to increased activity of the mTORC1 protein, which is typically regulated by the TSC1-TSC2 protein complex; while rapamycin slows LAM progression, it does not eliminate the disease, suggesting other processes are involved.
- Recent studies have identified G-protein coupled urotensin-II receptor (UT) signaling as a key player in LAM's cancer-related signaling, revealing that enhanced signaling through UT promotes harmful cell behaviors in
The challenge of therapeutic options for patients with lymphangioleiomyomatosis.
Lancet Respir Med
December 2024
Interstitial Lung Disease Unit, Respiratory Department, University Hospital of Bellvitge, Biomedical Research Institute of Bellvitge, CIBERES, Hospitalet de Llobregat, Barcelona, Spain. Electronic address:
Nintedanib for patients with lymphangioleiomyomatosis: a phase 2, open-label, single-arm study.
Lancet Respir Med
December 2024
Division of Pulmonary and Respiratory Intermediate Care Unit, MultiMedica IRCCS, Milan, Italy.
Article Synopsis
- Lymphangioleiomyomatosis is a rare lung disease primarily affecting women, and the study investigates the safety and effectiveness of the multikinase inhibitor nintedanib after sirolimus has been deemed insufficient or unsuitable.
- Conducted in Milan, the phase 2 study included 30 women who took nintedanib for 12 months, with the main measurement being the change in lung function (FEV) over that period.
- Results showed that participants experienced stable lung function after one year on nintedanib, but a slight decline occurred in lung function during the following year without treatment, with nausea being the most common side effect.
Article Synopsis
- A 47-year-old woman with a history of drug-resistant epilepsy was admitted to the emergency department due to sudden shortness of breath and chest pain, revealing low oxygen levels and signs of pulmonary issues.
- Imaging tests showed cystic lung lesions consistent with lymphangioleiomyomatosis and a collapsed lung, which was treated with a chest tube.
- Further examinations identified skin and kidney tumors related to angiomyolipoma, confirmed through biopsy, and genetic testing led to a diagnosis that prompted treatment with everolimus and dexamethasone.
Repurposing Nitazoxanide for Potential Treatment of Rare Disease Lymphangioleiomyomatosis.
Biomolecules
September 2024
Biosputnik LLC., New York, NY 10002, USA.
Article Synopsis
- Lymphangioleiomyomatosis (LAM) is a rare genetic lung disease, and the current treatment with Rapamycin only slows its progression, emphasizing the need for new therapeutic options.
- Nitazoxanide (NTZ), a safe and approved drug for treating diarrhea, shows promise due to its mTORC1 inhibitory effect and potential for repurposing in LAM treatment.
- In experiments, NTZ effectively reduced cell growth at specific doses but did not inhibit mTORC1 as expected; it lowered pAkt levels, and while it showed some benefits in reducing lung lesions in mouse models, results need further analysis.
Tuberous sclerosis-associated pulmonary lymphangioleiomyomatosis: The role of pulmonary rehabilitation - A case report.
Respir Med Case Rep
October 2024
Faculty of Biomedicine, Don Bosco University, Calle a Plan del Pino Km 1 1/2, Soyapango, 1874, El Salvador.
Article Synopsis
- - Lymphangioleiomyomatosis (LAM) is a rare lung disease affecting primarily women, often associated with Tuberous Sclerosis.
- - A patient with a complex medical history was hospitalized, and after stabilization, respiratory exercises and devices improved her condition significantly, avoiding the need for mechanical ventilation.
- - This case suggests that pulmonary rehabilitation may benefit TSC-LAM patients in the ICU by enhancing lung function and possibly shortening hospital stays, though more research is needed.
PEComas: A review of imaging and clinical features.
Clin Imaging
December 2024
University of California, Los Angeles, David Geffen School of Medicine at UCLA, Department of Radiological Sciences, 757 Westwood Plaza, Suite 1621, Los Angeles, CA 90095-7532, USA.
Article Synopsis
- Perivascular epithelioid cell tumors (PEComas) are uncommon tumors with diverse imaging characteristics and treatment approaches.
- They can occur on their own or as part of conditions like tuberous sclerosis, with some being easily removable while others pose greater treatment challenges.
- This review aims to present an overview of PEComas, including common types, their epidemiology, appearance in imaging, and available treatment options.
Quantifying Spatial Distribution of Ventilation Defects in Multiple Pulmonary Diseases With Hyperpolarized Xenon MRI.
J Magn Reson Imaging
October 2024
Center for Pulmonary Imaging Research, Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Article Synopsis
- The study focuses on assessing lung ventilation using hyperpolarized Xe MRI, comparing ventilation defect percentage (VDP) with defect distribution index (DDI) to measure how defects cluster spatially in various pulmonary diseases.
- It involves 421 subjects, including healthy controls and individuals with various obstructive and restrictive lung conditions, analyzed using a 3T MRI system.
- Results indicate that DDI is significantly higher in many pulmonary conditions compared to healthy controls, correlating well with VDP and pulmonary function tests, especially in obstructive disease groups.
Successful Treatment of Postmenopausal Exacerbation of Abdominal Lymphangioleiomyomatosis With Sirolimus: A Report of a Rare Case.
Cureus
September 2024
Respiratory Medicine, Iizuka Hospital, Iizuka, JPN.
Article Synopsis
- Lymphangioleiomyomatosis (LAM) is a rare lung disease mainly found in women of childbearing age but can progress in postmenopausal women, as shown in a case involving a 70-year-old patient with a long history of the disease.
- Despite stable lung health, the patient developed abdominal lesions years after her initial diagnosis, coinciding with her breast cancer treatment using aromatase inhibitors, suggesting a link between treatments and LAM progression.
- Sirolimus, a medication administered to the patient, effectively reduced the size of the abdominal nodules and alleviated symptoms, highlighting the need for ongoing monitoring of LAM patients beyond menopause and more investigations into treatment options and disease mechanisms.
Pulmonary Lymphatics History, Anatomy, and Pathophysiology: Emerging Knowledge and a Look to the Future.
Lymphology
October 2024
Department of Pathology, UCLA, Los Angeles, CA.
Article Synopsis
- Central lymphatic disorders in the lung have been underexplored, with a focus on the historical context and basic anatomy of lung lymphatics.
- The article discusses various pulmonary diseases linked to lymphatic dysfunction, such as Gorham-Stout disease and lymphangioleiomyomatosis (LAM), highlighting both primary and secondary disturbances.
- Future research may involve targeting lymphatic vessels for treatment, as presented in symposiums at international lymphology congresses in Italy and Spain.
Clinical and Functional Outcomes Associated with Quality of Life in Patients with Lymphangioleiomyomatosis: A Cross-Sectional Study.
Lung
December 2024
Department of Physical Therapy, School of Medicine, University of Sao Paulo, São Paulo, SP, Brazil.
Article Synopsis
- Lymphangioleiomyomatosis (LAM) is a rare lung disease affecting women, leading to decreased health-related quality of life (HRQoL), with limited understanding of the factors influencing this impairment.
- A study assessed 45 women with LAM, finding the lowest HRQoL scores in general health and vitality, while anxiety (35%) and depression (17%) were prevalent among the participants.
- Results indicated that depression symptoms and exercise capacity significantly impacted HRQoL, while lung function showed weak or no correlation with quality of life.
Surgical Management of Solitary Extrapulmonary Lymphangioleiomyomatosis in the Mesentery: A Case Report.
Cureus
September 2024
Department of Colorectal Surgery, Monash Health, Melbourne, AUS.
Article Synopsis
- * A 22-year-old female experienced chronic abdominal pain and was found to have a large mass during surgery, initially suspected to be related to ovarian issues.
- * The mass was successfully removed through laparotomy with no complications, and histopathology confirmed it as E-LAM; this case highlights effective management of E-LAM with positive patient outcomes.
A case report and review of rheumatoid arthritis co-occurring with tuberous sclerosis complex, a rare occurrence.
Front Immunol
October 2024
Department of Rheumatology and Immunology, Jiujiang University Affiliated Hospital, Jiujiang, Jiangxi, China.
Article Synopsis
- Rheumatoid arthritis (RA) is a common autoimmune disease, while tuberous sclerosis complex (TSC) is a rare genetic disorder.
- A 46-year-old woman presented with symptoms of polyarthritis and cough, initially suspected to be RA-ILD, but after further testing, multiple TSC-related conditions were identified.
- The patient was treated with everolimus alongside anti-rheumatic therapy, leading to an improvement in her cough symptoms.
Lymphangioleiomyomatosis and its Treatment: When to Start?
Arch Bronconeumol
September 2024
Department of Respiratory Medicine, St. Vincent's University Hospital, Dublin 4, Ireland; School of Medicine, University College Dublin, Dublin 4, Ireland. Electronic address:
Uterine lymphangioleiomyomatosis in a premenopausal woman with tuberous sclerosis: A case report.
Case Rep Womens Health
October 2024
Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Article Synopsis
- A case report details a 27-year-old woman with tuberous sclerosis who experienced spontaneous uterine rupture, leading to emergency surgery where they discovered damage consistent with lymphangioleiomyomatosis.
- The case emphasizes the need for early diagnosis and monitoring in women of reproductive age due to risks associated with estrogen, highlighting the importance of thorough evaluations in complicated medical situations.