Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lymphangioleiomyomatosis (LAM) is an extremely rare lung disease affecting females of a childbearing age. The condition occurs sporadically or in association with tuberous sclerosis complex. The diagnosis of LAM is often delayed since the clinical symptoms and signs are non-specific. The present study reports the a case of a patient with LAM, in which bloody sputum was presented as the initial symptom. The 43-year-old female had experienced a small amount of bloody sputum over the previous five years. The patient was admitted to the Department of Respiratory Medicine at Taizhou People's Hospital (Taizhou, China) in 2012, reporting symptoms of a cough, shortness of breath and bloody sputum over the previous 10 days. A high-resolution computed tomography scan revealed multiple small circular thin-walled translucent areas in both lung fields. The initial diagnosis of the patient was LAM. A biopsy was performed using a video-assisted thoracoscopy. In conclusion, increased awareness and early diagnosis and treatment were determined to be key factors in ensuring a satisfactory prognosis.
 ...
PMID:Sporadic lymphangioleiomyomatosis with bloody sputum as an initial symptom: A case report and review of the literature. 2613 53

Lymphangioleiomyomatosis (LAM) is a rare neoplastic disease affecting predominantly young women. Clinical symptoms of this progressive disease include dyspnoea, cough, recurrent pneumothorax, hemoptysis and chylothorax. LAM is generally aggressive in nature and ultimately results in respiratory failure. Important hallmark features of this metastatic disease include the formation of lesions of abnormal smooth muscle cells, cystic destruction of the lung tissue and lymphangiogenesis affecting the lungs, abdomen and lymphatics. Research over the last 10-15 years has significantly enhanced our understanding of the molecular and cellular processes associated with LAM. These processes include mutational inactivation of the tuberous sclerosis complex genes, TSC1 and TSC2, activation of the mammalian target of rapamycin (mTOR) pathway, enhanced cell proliferation and migration, lymphangiogenesis, metastatic spread through the blood and lymphatic circulations, sex steroid sensitivity and dysregulated autophagy. Despite this increased knowledge there is currently no cure for LAM and treatment options remain limited. Whilst the mTOR inhibitor rapamycin has shown some benefit in patients with LAM, with stabilisation of lung function and improved quality of life, cessation of treatment results in recurrence of the disease progression. This highlights the urgent need to identify novel targets and new treatment regimens. The focus of this review is to summarise our current understanding of the cellular and molecular processes associated with LAM and highlight emerging treatments.
 ...
PMID:Lymphangioleiomyomatosis: Current understanding and potential treatments. 2671 79

The characteristics of patients with lymphangioleiomyomatosis (LAM) are poorly defined, as they may present with or without pleural effusion (PE). We performed a systematic review across four electronic databases searching for studies reporting clinical findings, PE characteristics, and the most effective treatment of LAM. Case descriptions and retrospective studies were included, unrestricted by year of publication. The review consisted of 94 studies (199 patients) spanning a period of nearly 55 years. The median age was 38 years (range: 1 month to 69 years), and 79.7% were between 21 and 50 years old. All cases had dyspnea, 95% had a cough, and 87.5% had chest pain. PE was exudative chylothorax, usually unilateral (76%) and right-sided, predominantly lymphocytic, and with proportionately higher levels of proteins than lactate dehydrogenase. Sirolimus was effective in all cases, completely in 87%, and partially in 13%, although the number of patients receiving sirolimus was small. The present study confirmed that LAM and PE mainly occur in women of childbearing age (third to fifth decade of life). PE was usually unilateral and presented as a lymphocyte-predominant chylous exudate. The most effective treatment for PE seems to be sirolimus, although studies with larger series are needed to confirm this.
...
PMID:Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review. 2693 2

Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease presenting with cough, dyspnea on exertion and recurrent pneumothorax. Substantial achievements have been made during the past two decades regarding the pathogenesis, diagnosis and management of this disorder. LAM, affecting almost exclusively women, is associated with inactivating tuberous sclerosis complex (TSC) gene mutations in LAM cells, resulting in activation of mTOR that controls cell proliferation, growth and motility. Many parallels have been identified between LAM pathogenesis and neoplasia; inactivating mutations, the ability of LAM cells to metastasise, the induction of angiogenesis and lymphangiogenesis, invasion of the lung. Recent reports suggest that VEGF-D levels have diagnostic utility in LAM patients. Partial response of TSC-associated tumors and decrease the rate of lung function decline in females with LAM due to inhibition of mTOR pathway with sirolimus have been demonstrated.
...
PMID:[Lymphangioleiomyomatosis - new concepts on pathogenesis, diagnosis and treatment]. 2742 Nov 26

Lymphangioleiomyomatosis (LAM) is a rare and fatal disease which occurs almost exclusively in young women. The disease often affects lungs and most of the patients die from respiratory failure. It is often initially misdiagnosed as asthma or chronic obstructive pulmonary disease. The most common presentations of pulmonary LAM (P-LAM) include dyspnea and coughing. Chylothorax and spontaneous pneumothorax may be seen in advanced cases. Although rare, it may present with extrapulmonary LAM (E-LAM). Renal angiomyolipomas and abdominal lymphadenopathies (LAPs) are common in E-LAM cases. Pelvic retroperitoneal masses are very rare and often require exploratory laparotomy. Herein, we report a 36-year-old female case of a rare extrapulmonary manifestation of LAM who was treated with abdominal and thoracic surgery, radiotherapy and finally sirolimus.
 ...
PMID:An extrapulmonary manifestation of lymphangioleiomyomatosis: A rare case report. 2913 17

BACKGROUND Lymphangioleiomyomatosis (LAM) is a rare progressive cystic and nodular disease of the lung characterized by smooth muscle cell proliferation. LAM predominantly affects young premenopausal women. This report is of a case of LAM presenting in a 47-year-old woman with a past history of breast cancer and discusses the possibility of an association between the two conditions. CASE REPORT A 47-year-old woman presented as an emergency with an exacerbation of a four-month history of shortness of breath and dry cough. Her symptoms began following the start of anti-hormonal treatment with letrozole and goserelin acetate for a moderately differentiated (grade 2) invasive ductal carcinoma of the breast (pT2, pN0, M0) which was positive for expression of estrogen receptor (ER+), progesterone receptor (PR+), and human epidermal growth factor receptor 2 (HER2+). Until the previous four months, she had breast-conserving treatment with radiotherapy and tamoxifen therapy. Following hospital admission, she was found to be in type I respiratory failure. Chest X-ray, lung computed tomography (CT), and positron-emission tomography (PET) showed diffuse cystic and nodular lung lesions, consistent with a diagnosis of LAM, and antihormonal therapy was discontinued. She developed pericarditis that was treated with the anti-inflammatory agent, colchicine. Treatment with letrozole and sirolimus improved her respiratory symptoms. CONCLUSIONS A rare case of LAM is presented in a woman with a recent history of breast cancer. Because both tumors were hormone-dependent, this may support common underlying gene associations and signaling pathways between the two types of tumor.
 ...
PMID:A Case of Lymphangioleiomyomatosis (LAM) of the Lung in a Patient with a History of Breast Cancer. 3090 27


<< Previous 1 2 3 4