608 results match your criteria: "Lymphangioleiomyomatosis Imaging"
Pericardial 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 PDFPrimary 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.
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.
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.
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.
Diagnostic Accuracy of Computed Tomography in Lymphangioleiomyomatosis.
Acta Med Port
November 2024
Universidade de Ribeirão Preto (UNAERP) - Campus Guarujá. Guarujá; Diagnósticos da América S.A. (DASA). São Paulo. Brasil.
Management of a rare case of lymphangioleiomyomatosis complicated by recurrent pneumothorax.
BMJ Case Rep
September 2024
Division of Pulmonary and Critical Care, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Article Synopsis
- A female patient of reproductive age is treated in the emergency department for worsening shortness of breath caused by pneumothorax, a condition that has been recurring for her over the past three months.
- She has a long history of lymphangioleiomyomatosis (LAM), a rare lung disease that mainly affects women and can lead to complications like pneumothorax.
- LAM requires specialized medical care and can significantly impact the patient's quality of life, highlighting the importance of a multidisciplinary approach that includes family physicians for managing such chronic conditions.
A Comparison of Clinical and Radiological Presentations of Sporadic and Tuberous Sclerosis Complex-Associated Lymphangioleiomyomatosis.
Am J Med Genet A
January 2025
Massachusetts General Hospital, Boston, Massachusetts, USA.
Article Synopsis
- - This study compares the clinical and radiological features of tuberous sclerosis complex (TSC)-associated lymphangioleiomyomatosis (LAM) and sporadic LAM by reviewing medical records of 90 confirmed cases.
- - Patients with sporadic LAM showed more clinical symptoms at diagnosis, while TSC-LAM patients presented all four analyzed CT phenotypes, including multiple sclerotic bone lesions and fat-containing lesions in various organs.
- - The findings indicate significant differences between the two LAM types, which could lead to updated diagnostic criteria, while also highlighting similarities that may help understand the underlying mechanisms of sporadic LAM.
Surgical management of pleural complications in lymphangioleiomyomatosis.
J Thorac Cardiovasc Surg
August 2024
Center for LAM and Rare Lung Diseases at Columbia University, Department of Anesthesiology, Columbia University Irving Medical Center, New York, NY. Electronic address:
Article Synopsis
- Lymphangioleiomyomatosis (LAM) is a rare lung disease mostly affecting women, often leading to complications like pneumothorax and chylothorax, so surgical management options were examined.
- The study reviewed records of 326 patients suspected of having LAM, revealing that 40.5% underwent surgical procedures, with significant instances of pneumothorax and associated treatments like pleurodesis.
- Findings suggest a high occurrence of pleural disease in LAM patients, indicating a need for thoracic surgeons to be aware of these issues and highlighting the potential benefits of using tunneled indwelling pleural catheters for better management.
Multisystem Lymphangioleiomyomatosis.
Radiology
August 2024
From the Department of Radiology, Qilu Hospital of Shandong University, 107 Wenhua W Rd, Lixia District, Jinan 250012, Shandong, China.
[Clinical features of pulmonary hypertension in lymphangioleiomyomatosis].
Zhonghua Jie He He Hu Xi Za Zhi
August 2024
Division of Pulmonary and Critical Care Medicine, The first Affiliated Hospital of Guangzhou Medical University, Guangzhou Institute of Respiratory Health, National Centre of Respiratory Medicine, Guangzhou 510120, China.
To describe the prevalence of lymphangioleiomyomatosis-pulmonary hypertension (LAM-PH), to explore the clinical features of patients with LAM-PH, and to evaluate the role of pulmonary artery optical coherence tomography (OCT) in the diagnosis of LAM-PH. Among 234 patients diagnosed with LAM in our center from June 2017 to August 2023, echocardiography was performed in 167 patients, 15 patients with PH indicated by echocardiography were selected as the LAM-PH group. From the remaining 152 patients, 32 patients were randomly selected as the control group.
View Article and Find Full Text PDFClinical Trial Validation of Automated Segmentation and Scoring of Pulmonary Cysts in Thoracic CT Scans.
Diagnostics (Basel)
July 2024
Laboratory of Imaging Physics, Biochemistry and Biophysics Center, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
In cystic lung diseases such as lymphangioleiomyomatosis (LAM), a CT-based cyst score that measures the percentage of the lung volume occupied by cysts is a common index of the cyst burden in the lungs. Although the current semi-automatic measurement of the cyst score is well established, it is susceptible to human operator variabilities. We recently developed a fully automatic method incorporating adaptive features in place of manual adjustments.
View Article and Find Full Text PDFDevelopment and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex.
J Med Genet
September 2024
CRCHUM, Montreal, Quebec, Canada
Article Synopsis
- The study aims to create and validate a clinical risk score to predict renal angiomyolipoma (AML) and pulmonary lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex (TSC).
- Data from 2420 participants was analyzed using logistic regression, taking into account early-onset clinical signs, sex, and genetic mutations to develop risk scores for AML and LAM.
- Results showed that risk scores effectively predicted the likelihood of AML and LAM, with excellent calibration and strong discrimination, suggesting potential for personalized preventative care and screening in TSC patients.
Improved Diffusion-Weighted Hyperpolarized Xe Lung MRI with Patch-Based Higher-Order, Singular Value Decomposition Denoising.
Acad Radiol
December 2024
Center for Pulmonary Imaging Research, Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA; Department of Biomedical Engineering, University of Cincinnati, Cincinnati, Ohio 45221, Cincinnati, Ohio 45229, USA; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio 45221, USA; Imaging Research Center, Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. Electronic address:
Article Synopsis
- Hyperpolarized xenon (Xe) MRI is a noninvasive imaging technique used to evaluate lung structure and function, particularly focusing on the effects of aging and diseases such as cystic fibrosis and asthma on alveolar size.
- Low signal-to-noise ratio (SNR) can negatively affect the accuracy of measurements like the apparent diffusion coefficient (ADC), leading to misleadingly low values, especially in diseased lung regions where ADCs can be abnormally high.
- The study applied a new denoising technique called Global Local Higher Order Singular Value Decomposition (GLHOSVD), which significantly improved image quality, enhanced SNR, and allowed for more accurate assessment of lung microstructure that was previously difficult to measure in high
Hepatic perivascular epithelioid cell tumors: Benign, malignant, and uncertain malignant potential.
World J Gastroenterol
May 2024
División Patología, Hospital General de Agudos Cosme Argerich, Buenos Aires C1155AHA, Argentina.
In 2013, the World Health Organization defined perivascular epithelioid cell tumor (PEComa) as "a mesenchymal tumor which shows a local association with vessel walls and usually expresses melanocyte and smooth muscle markers." This generic definition seems to better fit the PEComa family, which includes angiomyolipoma, clear cell sugar tumor of the lung, lymphangioleiomyomatosis, and a group of histologically and immunophenotypically similar tumors that include primary extrapulmonary sugar tumor and clear cell myomelanocytic tumor. Clear cell tumors with this immunophenotypic pattern have also had their malignant variants described.
View Article and Find Full Text PDFGiant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade.
Saudi J Kidney Dis Transpl
November 2023
Department of Nephrology, The Kidney Centre Post Graduate Training Institute, Karachi, Pakistan.
Renal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas.
View Article and Find Full Text PDFGiant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female.
Case Rep Neurol Med
April 2024
Bogomolets National Medical University, Kyiv, Ukraine.
Article Synopsis
- * Common ocular signs of TS include achromic patches and small retinal tumors (less than 5 mm), and the condition is diagnosed through a combination of clinical features and genetic tests.
- * A case of a 15-year-old girl with seizures and blurred vision was diagnosed with TS after imaging revealed brain and lung abnormalities, emphasizing the need for early diagnosis and management to prevent complications.
Article Synopsis
- * The rise in CT scans has made it more common for doctors to encounter these lung cysts, despite the rarity of DCLD.
- * Key factors in diagnosing DCLD involve identifying specific conditions, such as LAM, PLCH, BHD, and LIP, often requiring lung biopsies for accurate diagnosis and management.
Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic inactivation.
Front Oncol
March 2024
Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA, United States.
Background: Patients with platinum-resistant recurrent high grade serous ovarian carcinoma have poor outcomes and limited treatment options.
Case Presentation: We present a case of a 48-year-old woman with platinum-resistant high grade serous ovarian carcinoma harboring the pathogenic R611Q variant with concomitant single copy loss of (suggesting biallelic inactivation) identified in targeted tumor sequencing. The patient was treated with the mTOR inhibitor everolimus, with an excellent response by imaging and a marked decrease in CA125; she remained on everolimus for 19 months until she developed progressive disease.