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Rare lung diseases

Tadashi Iwai, Manabu Hoshi, Naoto Oebisu, Akiyoshi Shimatani, Naoki Takada, Hiroaki Nakamura
Epithelioid sarcoma (ES) is a rare and aggressive type of soft tissue sarcoma with resistance to systemic chemotherapy. Therefore, new treatment options are required for patients with advanced ES. Eribulin is a novel potential treatment option for patients with inoperative sarcoma. We herein report a case of a 27-year-old Japanese man with cystic lung metastases from an ES in the left forearm, resulting in long-term stable disease. A solid, metastatic sarcomatous nodule appeared in the right lung, as shown by computed tomography, within the first 2 months after surgery...
September 2018: Anti-cancer Drugs
Nikolaos A Papakonstantinou, Charalambos Zisis, Charikleia Kouvidou, Grigoris Stratakos
Radiofrequency ablation is an effective treatment for atrial fibrillation. Pulmonary vein stenosis/occlusion is one of its rare complications. Herein, the case of a 50-year-old man with hemoptysis and migratory pulmonary infiltrations after transcatheter radiofrequency ablation for atrial fibrillation is presented. Initially, pneumonia, interstitial pulmonary disease, or lung cancer was suspected, but wedge resection revealed hemorrhagic infiltrations. Chest computed tomography pulmonary angiography detected no left superior pulmonary vein due to its total occlusion, and left upper lobectomy was performed...
August 2018: Korean Journal of Thoracic and Cardiovascular Surgery
Yizhou Zhao, Mathieu Castonguay, Derek Wilke, Zhaolin Xu, Madelaine Plourde, Liam Mulroy, Mary MacNeil, David Bowes
INTRODUCTION: Large cell neuroendocrine carcinoma (LCNEC) is a rare type of high-grade pulmonary neuroendocrine tumor. The study objective is to investigate its survival outcomes, incidence of brain metastases, and patterns of recurrence. METHODS: This is a single center study of patients with pathologic diagnosis of pulmonary LCNEC. Patient data were collected retrospectively and analyzed, including survival, incidence of brain metastases, and patterns of recurrence...
May 24, 2018: Current Problems in Cancer
Nannan Gao, Tengyue Zhang, Jiadong Ji, Kai-Feng Xu, Xinlun Tian
BACKGROUND: Lymphangioleiomyomatosis (LAM) is a rare lung disease and the mammalian target of the rapamycin (mTOR) inhibitors has been used as an effective therapy. Here we conducted a systematic review and meta-analysis with the aims to quantify the efficacy and safety of mTOR inhibitors in LAM patients. METHODS: The following databases were searched for clinical trials regarding LAM patients treated with mTOR inhibitors until December 2017: Pubmed, Embase, Cochrane Library and OVID medicine...
August 14, 2018: Orphanet Journal of Rare Diseases
Saif Al-Zahid, Tanwen Wright, Philip Reece
Background: Inflammatory pseudotumours (IPT) are rare benign tumours characterised by spindle-shaped histiocyte proliferation often mimicking a soft tissue sarcoma. They can occur in different parts of the body and various aetiological factors have been proposed. To our knowledge this is the first case report of IPT of the larynx caused by mycobacterial disease. Case Report: We report a case of IPT of the larynx in an immunocompromised 81-year-old lady presenting with stridor and dysphagia with known disseminated Mycobacterium kansasii of the lungs...
2018: Case Reports in Pathology
Koichi Masuda, Shinsuke Takenaga, Kazuhiko Morikawa, Asami Kano, Hiroya Ojiri
Sarcoidosis is a multisystemic inflammatory disease of unknown origin characterized by the formation of noncaseating granulomas and accumulation of inflammatory cells. Sarcoidosis most commonly affects the lungs and lymphoid system. However, the liver can also be involved in 50%-65% of cases. On magnetic resonance imaging, sarcoidosis lesions usually present as hypointense lesions on all sequences. However, we present a rare case of nodular liver sarcoidosis presenting with T2 hyperintense lesions. In addition, while most cases of hepatic nodular sarcoidosis present with multiple small hepatic nodules, liver masses of our case are larger than usual...
October 2018: Radiology case reports
Moaaz Soliman, Fatima Neemuchwala, Amanda Sankar, Rama Jasty, Raja Rabah, Antonia P Popova, Erika A Newman
A 14-year-old male patient presented with a nonproductive cough, weight loss, fatigue, and malaise. A chest radiograph showed large bilateral cavitary lung lesions in both upper and lower lobes that failed to improve with antibiotics and anti-inflammatory medications. Infectious and rheumatologic work-ups were negative. Thoracoscopic lung biopsies were diagnostic for nodular lymphocyte predominant Hodgkin lymphoma (NLPHL). The patient received combination chemotherapy and immunotherapy based on current treatment standards with an excellent clinical response...
August 10, 2018: Journal of Pediatric Hematology/oncology
Masamitsu Ubukata, Atsushi Mitsuhashi, Yuki Nishizawa, Teruhiro Fujii, Masaki Hara, Akihito Ohta, Kosaku Nitta
A 70-year-old man with prior Raynaud's phenomena developed hypertension and renal insufficiency. Raynaud's phenomena, finger skin thickening, interstitial lung disease, and positive anticentromere antibody findings indicated systemic sclerosis (SSc). Based on the presence of SSc, severe hypertension with rapidly progressive renal failure, and proliferative and obliterative arteriolar vasculopathy, scleroderma renal crisis (SRC) was diagnosed. Despite good blood pressure control with antihypertensive drugs, hemodialysis was initiated and could not be withdrawn owing to unimproved renal dysfunction...
August 10, 2018: Internal Medicine
J Cuilleron, P Mas, L Kiakouama, L Gaillot-Durand, P Seve, G Devouassoux
Acquired hemophilia A (AHA) is a rare disease, defined by the production of anti-factor VIII antibodies causing disordered hemostasis. It is idiopathic in 50% of cases, but sometimes associated with solid tumors. We report a case where AHA led to the diagnosis of lung cancer. CASE REPORT: An 82-year-old man with spontaneous hematomas on his trunk and extremities, and isolated prolongation of activated partial thromboplastin time was admitted to the emergency room. A severely reduced factor VIII level and a high factor VIII inhibitor title confirmed the diagnosis of AHA...
August 8, 2018: Revue des Maladies Respiratoires
Daniel M Provencher, Andrew R Jauregui
Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by progressive and irreversible fibrosis of lung parenchyma that reduces lung function. This rare, incurable disease often is mistaken for an inflammatory condition. IPF typically manifests in older men and is associated with a history of smoking. Disease progression is rapid, with a 5-year survival rate of 20%. Treatment options include lung transplantation and medical therapies to reduce the steady decline in lung function. This article reviews the epidemiology, pathophysiology, presentation, diagnosis, and management of IPF...
August 8, 2018: JAAPA: Official Journal of the American Academy of Physician Assistants
Ubaid Feroze Seedat, Faheem Seedat
Haemoptysis is concerning for both patient and healthcare provider and points to the presence of severe underlying lung disease warranting investigation. Approximately 8% of patients with pulmonary tuberculosis (PTB) infection will experience haemoptysis at some point during their life [1;2] . The aetiology of haemoptysis in the setting of PTB is diverse and may occur during active or following prior PTB infection due to pulmonary complications. We describe the case of a 33-year-old female who presented with massive haemoptysis on two separate occasions within a five-month period...
2018: Respiratory Medicine Case Reports
Jennifer L Anderson, Matthew C Hall, Jennifer K Meece
Asymptomatic blastomycosis infections are rarely identified or described in the literature, but are believed to comprise 50% of cases. In this report we describe five sporadic cases of blastomycosis in asymptomatic patients. All of these cases were initially identified as incidental findings of lung nodules on CXR or CT. To our knowledge, these are the first detailed descriptions of asymptomatic blastomycosis, occurring as sporadic disease, in the literature.
September 2018: Medical Mycology Case Reports
Suzanne Miller, Clare Coveney, Janice Johnson, Aliki-Eleni Farmaki, Nishant Gupta, Martin D Tobin, Louise V Wain, Francis X McCormack, David J Boocock, Simon R Johnson
Background: Lymphangioleiomyomatosis (LAM) is a rare disease of women. Decline in lung function is variable making appropriate targeting of therapy difficult. We used unbiased serum proteomics to identify markers associated with outcome in LAM. Methods: 101 women with LAM and 22 healthy controls were recruited from the National Centre for LAM (Nottingham, UK). 152 DNA and serum samples with linked lung function and outcome data were obtained from patients in the NHLBI LAM Registry (USA). Proteomic analysis was performed on a discovery cohort of 50 LAM and 20 control sera using a SCIEX SWATH mass spectrometric workflow...
August 9, 2018: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Nicole Legare, Seema Frosh, Jonathan B Vasquez, Son T Ho
A 58-year-old Caucasian male presented with left periorbital oedema extending to the nasal area for 1 year along with nasal discharge for 1 month. Lab work was significant for positive cytoplasmic antineutrophil cytoplasmic antibodies. CT scan showed solid mass along the nasal soft tissue with bony nasal destruction. A CT scan of the thorax was performed to rule out granulomatosis with polyangiitis and showed multiple pulmonary nodules. Biopsies of the nasal mass and lung nodule were performed which showed fragments of fibrosis with spindle cell proliferation consistent with eosinophilic angiocentric fibrosis (EAF)...
August 9, 2018: BMJ Case Reports
Zoe E Betteridge, Lynsey Priest, Robert G Cooper, Neil J McHugh, Fiona Blackhall, Janine A Lamb
BACKGROUND: The close temporal association between onset of some connective tissue diseases and cancer suggests a paraneoplastic association. Adult patients with scleroderma with anti-RNA polymerase III autoantibodies and adult patients with dermatomyositis with anti-transcriptional intermediary factor 1 (anti-TIF1) or anti-nuclear matrix protein 2 (anti-NXP2) autoantibodies have a significantly increased risk of developing cancer. Autoantibodies may serve as biomarkers for early detection of cancer and also could be relevant for prediction of responses to immune therapies...
August 9, 2018: Arthritis Research & Therapy
Runxiao Zheng, Lan Tao, Hui Jian, Yun Chang, Yan Cheng, Yanlin Feng, Haiyuan Zhang
Airborne fine particulate matter (PM2.5 ) has been known capable of causing lung inflammation and fibrosis, as a result of a series of chronic respiration diseases. Although NLRP3 inflammasome activation is essential for development of many chronic diseases, the relationship between PM2.5 -induced toxicological effect and NLRP3 inflammasome activation is rarely investigated. Since PM2.5 contains a large population of nanosized materials and many types of nanomaterials can activate NLRP3 inflammasome, the NLRP3 inflammasome activation and lung fibrosis induced by PM2...
August 6, 2018: Ecotoxicology and Environmental Safety
Priyanka Krishna, Prasan Kumar Panda, Sudarsan Hariprasad, Shiv Shankar Singh, S R Gedela
Respiratory distress is very uncommon as a presenting symptom of Chilaiditi syndrome. Furthermore, pneumonia is not documented with the syndrome, compromising further to the distress. We describe a middle-aged man, chronic alcoholic, recently diagnosed with liver cirrhosis, presented with a 1-year history of slowly progressive breathlessness. Recently, he developed mild-to-moderate hemoptysis and cough with aggravation of breathlessness. He did not have fever, chest pain, or orthopnea. He was cyanosed, requiring high-dose oxygen therapy...
March 2018: Journal of Family Medicine and Primary Care
Sarah G K Engel, Sonal Bhatia
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, lungs, and liver. It exhibits wide phenotypic variation, ranging from the most severe cases with intellectual disability and intractable epilepsy to the mildest, clinically silent forms of the disease. The incidence of TSC is reported to be 1/6000; however, this does not account for those with milder forms of the disease, of which forme fruste is the mildest...
April 2018: Journal of Pediatric Neurosciences
María Tereza Nieto-Coronel, Allan David López-Vásquez, Diana Marroquín-Flores, Sandy Ruiz-Cruz, Jorge Luis Martínez-Tláhuel, Jaime De la Garza-Salazar
Osteosarcoma is the most common primary malignancy of bone in children and young adults, the highest incidence peak is during adolescence and doesn't have any gender predominance. The main site of metastasis are the lungs and extrapulmonary cases are occasional. The incidence of metastasis in the Central Nervous System (CNS) is 2-6.5%, increase to 10-15% in patients with pulmonary metastases. Therefore, metastatic disease of the CNS is rare and the information on such patients is limited. Here, we describe a case of a 20-year old patient diagnosed with osteosarcoma in the left distal femur stage IIB, he developed pulmonary disease, during palliative chemotherapy experienced relapse to the brain classified as recursive partitioning analysis (RPA) class II, and was treated with external radiotherapy (30 Gy in 10 fractions) and later he had a poor evolution and died...
July 2018: Reports of Practical Oncology and Radiotherapy
A Wilke, H Semper, C Gross, C Grohé
BACKGROUND: Augmentation with human alpha-1 proteinase inhibitor is the only specific treatment for Alpha-1-Antitrypsin Deficiency (AATD), a rare genetic disease with symptoms of progressive COPD. OBJECTIVES: A prospective long-term exploration of outcomes during the "Alpha-1-Mobile" home care AAT augmentation program in seven advanced-stage patients. METHODS: Patients received weekly i. v. AAT augmentation and COPD therapy. Symptoms, lung function, health status, quality-of-life aspects, and safety were documented continuously...
August 2018: Pneumologie
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