Physiotherapy in lymphangioleiomyomatosis: a systematic review.

Background: Lymphangioleiomyomatosis (LAM) is associated with progressive dyspnoea and exercise intolerance, but despite the central role of physiotherapy on pulmonary rehabilitation, there is a huge lack of physiotherapy approaches used specifically for LAM patients.

Objective: to identify the physiotherapeutic strategies used in the treatment of patients with LAM.

Materials And Methods: This is a systematic review of literature.

Imaging of Cystic Lung Disease.

Diffuse cystic lung disease refers to multiple rounded lucencies or low-attenuating areas with well-defined interfaces with normal lung. Parenchymal lucencies, such as cavitary disease, may mimic cystic lung disease. Cystic lung disease generally has a nonspecific presentation.

Bioinformatics analysis of inflammation and oncology in pulmonary lymphangioleiomyomatosis.

This study investigates the molecular markers and biological pathways of pulmonary lymphangioleiomyomatosis. We analyzed 2 gene expression profiles in the gene expression omnibus Gene Expression Omnibus database for normal lung tissue and lymphangioleiomyomatosis and identified differential expressed genes in pulmonary lymphangioleiomyomatosis. Ninety-one differentially expressed genes were identified, including 36 upregulated genes and 55 downregulated genes.

Pulmonary lymphangioleiomyomatosis and renal angiomyolipoma in a patient with systemic lupus erythematosus: A case report.

Background: The co-incidence of systemic lupus erythematosus (SLE) and tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) and renal angiomyolipoma (AML) is rare. In such patients, the rupture of renal AML may result in fatal circumstances, but this may be preventable.

Methods: A 22-year-old Asian woman with SLE was admitted to our hospital with severe left-flank pain.

Recurrent haemoptysis: a rare diagnosis of kaposiform lymphangiomatosis and review of literature.

Kaposiform lymphangiomatosis (KLA) is a rare clinicopathological entity among lymphatic anomalies. The main involved sites are the mediastinum and the lungs but the disease can also affect multiple extrathoracic organs. Little is known about the pathophysiology, the natural history, the treatment response and the long-term outcome of this disorder.

Computer grading of lung disease severity in patients with lymphangioleiomyomatosis referred for transplantation.

Objectives: Lymphangioleiomyomatosis (LAM) patients with severe lung disease may be considered for lung transplantation. Clinical, physiologic, and quality of life data are usually employed for referral. The aim of this study was to determine whether computed tomographic measurement of lung volume occupied by cysts (cyst score) complemented clinical and physiologic data in supporting referral for transplantation.

Prophylactic renal artery embolization before pregnancy in patients with lymphangioleiomyomatosis and renal angiomyolipoma.

Objective: Pregnant patients with lymphangioleiomyomatosis (LAM) and renal angiomyolipomas (AMLs) require care for both renal AMLs and pulmonary dysfunction because AMLs can grow and rupture during pregnancy, potentially causing hemorrhagic shock and fetal death. This study examined whether prophylactic transcatheter arterial embolization (TAE) could prevent the pregnancy-associated growth and rupture of renal AMLs in patients with LAM.

Methods: This retrospective study included five women with 14 renal AMLs (initial diameter, ≥2 cm) first encountered between September 2010 and August 2015 who subsequently became pregnant.

Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Background: Sporadic lymphangioleiomyomatosis (S-LAM) is a rare neoplasm with heterogeneous clinical features that is conventionally considered to be related to TSC2. This study serves to elucidate the mutation landscape and potential correlation between S-LAM genomic profiles and clinical phenotypes.

Methods: Genomic profiles of 22 S-LAM patients were obtained by sequencing genomic DNA and cell-free DNA from various specimens using an NGS (next-generation sequencing)-based tumor-driver gene panel.

A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma.

Tuberous sclerosis complex (TSC) is a rare disease that threatens multiple organs in the human body. TSC‑associated renal angiomyolipoma (TSC‑RAML) has potentially life‑threatening complications and a generally poor prognosis. The present study aimed to find plasma proteomic diagnostics and disease‑associated markers, and explore the tumor microenvironment using multi‑omics.

Rapamycin nanoparticles improves drug bioavailability in PLAM treatment by interstitial injection.

Background: Pulmonary lymphangiomyomatosis (PLAM) is a rare interstitial lung disease characterized by diffuse cystic changes caused by the destructive proliferation of smooth muscle-like cells or LAM cells. PLAM is more common in young women than other people, and a consensus is lacking regarding PLAM treatment. The clinical treatment of PLAM is currently dominated by rapamycin.

A pulmonary lymphangioleiomyomatosis with multi-site angiomyolipoma: a case report.

Background: Lymphangioleiomyomatosis (LAM) is a rare low-grade malignant tumor featured with diffuse cystic changes due to the destructive proliferation of LAM cells, closely related to angiomyolipoma (AML). Here, we reported a rare case of pulmonary LAM coexisting with AMLs in multiple sites of the lung, liver, kidney, and retroperitoneum. We aimed to contribute to the body of knowledge regarding the diagnosis, identification and treatment of such cases.

Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line.

The TSC1 gene is a tumor suppressor gene that encodes for the growth inhibitory protein hamartin. It was founded clinically relevant to tuberous sclerosis complex (TSC) and related epilepsy. Variants in TSC1 resulted in tuberous sclerosis, focal cortical dysplasia (FCD) Type II, pulmonary lymphangioleiomyomatosis and change in everolimus sensitivity.

Pelvic Lymph Node Lymphangiomyomatosis Found During Surgery for Gynecological Fallopian Tube Cancer: A Case Report and Literature Review.

Background: Lymphangioleiomyomatosis (LAM) is a rare low-grade metastatic tumor with an unknown origin that spreads through lymphatic vessels. It is characterized by the proliferation of smooth muscle-like or epithelioid tumor cells in the lung and axial lymphatic system. Extrapulmonary LAM is a localized disease with a low incidence rate, and the location of the related lesions is atypical.

Perioperative management of thoracic surgery in patients with lymphangioleiomyomatosis.

Background: General surgery for patients with lymphangioleiomyomatosis (LAM) is infrequent, however, general surgeons also occasionally experience it. Only a few reports have described the specific perioperative management appropriate for patients with LAM. Hence, in this case series, we aimed to investigate the surgical outcomes of LAM patients and their characteristics.

Evaluation of maximal exercise capacity through the incremental shuttle walking test in lymphangioleiomyomatosis.

Background: The cardiopulmonary exercise test (CPET) is the gold standard for assessing aerobic fitness; however, it is expensive, not widely available, and requires specialized equipment and staff. The incremental shuttle walking test (ISWT) is an exercise field test used to evaluate exercise capacity and may be an alternative to CPET in patients with lymphangioleiomyomatosis (LAM).

Objective: To investigate whether the ISWT can be used to assess maximal aerobic capacity in patients with LAM.

Acute Hypoxemic Respiratory Failure Due to COVID-19 in a Patient With Underlying Lymphangioleiomyomatosis.

Lymphangioleiomyomatosis (LAM) is a rare disorder that can cause lesions that develop into cysts, most commonly in the lung parenchyma and renal angiomyolipomas. We report a case of a young female with LAM who was admitted to the hospital for a COVID-19 infection, with the objective of discussing the management of LAM with concurrent COVID-19 infection. She ultimately showed overall clinical improvement after receiving dexamethasone and remdesivir, while holding her outpatient mammalian target of rapamycin (mTOR) inhibitor.

Retroperitoneal Cystic Adenopecoma with Genetic Analysis: A Rare Neoplasm.

Lymphangiomyomatosis is a member of the PEComa family, and usually involves the pulmonary parenchyma of middle-aged females. Infrequently, it may involve abdominal and retroperitoneal lymph nodes, and rarely it has been described to be associated with fallopian tube-type ciliated epithelium co-existing in one neoplasm. To increase our understanding of this unusual tumor, we describe the morphology and genetics of one case and review the literature.

LAM Cells as Potential Drivers of Senescence in Lymphangioleiomyomatosis Microenvironment.

Senescence is a stress-response process characterized by the irreversible inhibition of cell proliferation, associated to the acquisition of a senescence-associated secretory phenotype (SASP), that may drive pathological conditions. Lymphangioleiomyomatosis (LAM) is a rare disease in which LAM cells, featuring the hyperactivation of the mammalian Target of Rapamycin Complex 1 (mTORC1) for the absence of tuberin expression, cause the disruption of the lung parenchyma. Considering that LAM cells secrete SASP factors and that mTOR is also a driver of senescence, we deepened the contribution of senescence in LAM cell phenotype.

Sirolimus reduces the risk of pneumothorax recurrence in patients with lymphangioleiomyomatosis: a historical prospective self-controlled study.

Background: Spontaneous pneumothorax has a high incidence and high rate of recurrence in patients with lymphangioleiomyomatosis (LAM). The risk factors for pneumothorax and the effects of sirolimus on pneumothorax in patients with LAM are unknown. In our study, multivariate logistic regression was applied to a cross-sectional cohort to investigate factors associated with pneumothorax in LAM patients.

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

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.

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

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

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.