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Rare lung diseases

Erina Sasaki, Angela T Byrne, Ethna Phelan, Desmond W Cox, William Reardon
The filamin A gene (FLNA) on Xq28 encodes the filamin A protein. Mutation in FLNA causes a wide spectrum of disease including skeletal dysplasia, neuronal migration abnormality, cardiovascular malformation, intellectual disability and intestinal obstruction. Recently, childhood-onset interstitial lung disease associated with a range of FLNA mutations has been recognised and reported. We document our personal experience of this emerging disorder and compile a comprehensive overview of clinical features and molecular changes in all identifiable published cases...
December 13, 2018: European Journal of Pediatrics
Cynthia Gonano, Jérôme Pasquier, Cécile Daccord, Simon R Johnson, Sergio Harari, Violette Leclerc, Lucy Falconer, Eleonora Miano, Jean-François Cordier, Vincent Cottin, Romain Lazor
BACKGROUND: Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of women characterized by multiple lung cysts leading to respiratory insufficiency and frequent pneumothorax (PT). Air travel (AT) could increase the risk of PT in LAM through rupture of subpleural cysts induced by atmospheric pressure changes in aircraft cabin. To determine whether AT increases the risk of PT in LAM, we performed a retrospective survey of members of European LAM patient associations. A flight-related PT was defined as occurring ≤30 days after AT...
December 13, 2018: Orphanet Journal of Rare Diseases
Min-Woo Chung, Sang-Yoon Ha, Jung-Ho Choi, Hyuk-Jin Park, Dae-Seong Myung, Sung-Bum Cho, Wan-Sik Lee, Jin-Woong Kim, Hyung-Hoon Oh, Young-Eun Joo
RATIONALE: Radiofrequency ablation (RFA) is a safe and effective local treatment modality with a low complication rate and is commonly used to treat hepatocellular carcinoma (HCC). The clinical outcome of RFA may be closely related to the location, size, and shape of index tumors, and major complications, including hemorrhage, liver abscess, infarction, visceral organ perforation, hemothorax, pneumothorax, tumoral seeding, and hepatic failure. Cardiac tamponade is a rare and serious life-threatening complication associated with RFA...
December 2018: Medicine (Baltimore)
Jian Wang, Yimeng Chen, Sisi Zhang, Qingyong Chen
RATIONALE: About 50% of patients with a diagnosis of nonsmall cell lung carcinoma exhibit metastatic disease at the time of diagnosis. The preferential sites of extrapulmonary spread are the lymph nodes, liver, brain, adrenal glands, and bones; gastrointestinal tract perforation secondary to metastatic lung cancer is extremely rare. PATIENT CONCERNS: A 60-year-old male nonsmoker patient presented with a 20-day history of facial, neck, and right upper limb edema...
December 2018: Medicine (Baltimore)
Shengming Deng, Bin Zhang, Jihui Li, Shibiao Sang, Wei Zhang
INTRODUCTION: Multiple cardiac metastases from nonsmall-cell lung cancer are extremely rare. Multiple cardiac metastases detected by F-fluorodeoxyglucose positron-emission tomography/computed tomography (F-FDG PET/CT) have not been previously reported. PATIENT CONCERNS: A 53-year-old man was admitted to the hospital with left back pain for 1 month. DIAGNOSES: A contrast-enhanced computed tomography (CECT) scan showed a moderately enhancing mass with a necrotic area in the upper left lobe of the lung and a filling defect in the interventricular septum...
December 2018: Medicine (Baltimore)
João Pedro Gomes, Lèlita Santos, Yehuda Shoenfeld
Systemic Sclerosis (SSc) is a rare autoimmune disease that is characterized by a progressive skin fibrosis, an obliteration of the microvasculature and an exaggerated extracellular matrix deposition, which lead to a multisystemic dysfunction. Various pathogenetic mechanisms were described. The lack of a successful therapy make SSc a disease with a poor prognosis. The intravenous immunoglobulin (IVIG) has been used for a long time in different autoimmune diseases, and firstly used in SSc patients in 2000. IVIG has multiple non-specific mechanisms of action and, beyond an impressive improvement in muscle symptoms, a French nationwide cohort demonstrated that IVIG ameliorates the skin disease and systemic inflammation, and helps the daily dose corticosteroid's tapering at the end of the treatment...
December 10, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Andrew M Courtwright, Souheil El-Chemaly
Telomeres are repetitive nucleotide sequences that cap linear chromosomes, thereby limiting progressive chromosomal shortening during cell replication. In conjunction with environmental factors, common single nucleotide polymorphisms and rare and ultra-rare telomere-related mutations are associated with accelerated telomere shortening resulting in organ dysfunction, including interstitial lung disease (ILD). The most common telomere-related mutation-associated ILD is idiopathic pulmonary fibrosis (IPF). Up to one-third of individuals with familial IPF have shortened telomeres and/or carry a telomere-related mutation and one in ten individuals with sporadic IPF have telomere-related mutations...
December 12, 2018: Annals of the American Thoracic Society
C Fisser, O W Hamer, R Eiber, M Pfeifer, C Lerzer
Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease. PAP results from impaired surfactant clearance. In adults, autoimmune pulmonary alveolar proteinosis is present in 90 - 95 % of the cases. In 5 - 10 %, other etiologies such as toxins and dust exposure, hematological disorders and infections have to be considered. Men between 30 - 60 years are commonly affected. Typical symptoms are cough, dyspnea and alteration in ventilatory function. CT scan of the lung is characterised by a crazy paving pattern...
December 7, 2018: Pneumologie
Moritz C Wyler von Ballmoos, Edward Y Chan, Michael J Reardon
Primary pulmonary artery sarcoma is a rare tumor originating from the pulmonary artery tree. Given the low incidence, few centers have reported on more than a handful of cases. Because of its rarity it is also commonly misdiagnosed as pulmonary embolism. Multi-modality diagnostic imaging and recognition of specific imaging characteristics along with a high index of suspicion is required to make the correct diagnosis and expedite treatment. The primary imaging modality for most cardiac tumors such as primary pulmonary artery sarcoma is now MRI...
December 8, 2018: International Journal of Cardiovascular Imaging
Jia Liu, Jun Yuan, Tianxiang Feng, Yinjuan Zhao, Qian Sun, Jun Chen, Jingyu Chen, Meiling Jin, Bin Xue
Lymphangioleiomyomatosis (LAM) is a rare neoplastic disease that leads to progressive destruction of lung function. However, the mechanisms underlying the progression of LAM remain unknown. Recent studies demonstrated that miR‑124‑3p (hereinafter referred to as miR‑124) is a downregulated miRNA in tumors and it is still unclear whether miR‑124 participates in LAM. In the present study, it was revealed that miR‑124 was downregulated in LAM specimens and overexpression of miR‑124 resulted in the apoptosis of TSC2‑deficient cells via RXRα (retinoid X receptor α), while slightly influencing TSC2 wild‑type cells...
December 7, 2018: Oncology Reports
Seung Hoan Choi, Lu-Chen Weng, Carolina Roselli, Honghuang Lin, Christopher M Haggerty, M Benjamin Shoemaker, John Barnard, Dan E Arking, Daniel I Chasman, Christine M Albert, Mark Chaffin, Nathan R Tucker, Jonathan D Smith, Namrata Gupta, Stacey Gabriel, Lauren Margolin, Marisa A Shea, Christian M Shaffer, Zachary T Yoneda, Eric Boerwinkle, Nicholas L Smith, Edwin K Silverman, Susan Redline, Ramachandran S Vasan, Esteban G Burchard, Stephanie M Gogarten, Cecelia Laurie, Thomas W Blackwell, Gonçalo Abecasis, David J Carey, Brandon K Fornwalt, Diane T Smelser, Aris Baras, Frederick E Dewey, Cashell E Jaquish, George J Papanicolaou, Nona Sotoodehnia, David R Van Wagoner, Bruce M Psaty, Sekar Kathiresan, Dawood Darbar, Alvaro Alonso, Susan R Heckbert, Mina K Chung, Dan M Roden, Emelia J Benjamin, Michael F Murray, Kathryn L Lunetta, Steven A Lubitz, Patrick T Ellinor
Importance: Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the population. Young individuals with AF have a strong genetic association with the disease, but the mechanisms remain incompletely understood. Objective: To perform large-scale whole-genome sequencing to identify genetic variants related to AF. Design, Setting, and Participants: The National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine Program includes longitudinal and cohort studies that underwent high-depth whole-genome sequencing between 2014 and 2017 in 18 526 individuals from the United States, Mexico, Puerto Rico, Costa Rica, Barbados, and Samoa...
December 11, 2018: JAMA: the Journal of the American Medical Association
Edme Roxana Mustafa, Diana Rodica Tudoraşcu, Alina Giucă, Despina Manuela Toader, Maria Camelia Foarfă, Ileana Puiu, Anca Maria Istrate-Ofiţeru
A 46-year-old female diagnosed several years ago with arterial hypertension and an ischemic stroke with significant recovery was admitted for dyspnea on usual physical activity and fatigue. Physical examination revealed signs of heart failure with crackles on both lung bases, distented jugular veins, accentuated pulmonic valve closure (P2) and tricuspid regurgitation murmur. Echocardiography identified a large tumor in the left atrium, suggestive of atrial myxoma, which caused a severe functional mitral stenosis and produced severe pulmonary hypertension...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Luca Paoluzzi, Munir Ghesani
Background: Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant mesenchymal neoplasm of uncertain differentiation characterized by rearrangements of the NR4A3 gene. EMC often affects adults around the age of 50 and arise in the deep tissues of the proximal extremities and limb girdles. EMC is characterized by indolent growth rate but strong tendency to local recurrence and metastatic spread. No systemic treatment is specifically approved by the FDA for this disease and surgery has been traditionally the only potentially curative strategy...
2018: Clinical Sarcoma Research
Masatoshi Yamazoe, Hiromi Tomioka, Takahiro Kamada, Masahiro Kaneko, Eiji Katsuyama
The co-presence of malignant pleural mesothelioma (MPM) and lung cancer is rare. We report a 70-year-old male with exposure to asbestos. Chest computed tomography revealed a right mediastinal mass combined with an enlarged ipsilateral lymph node and left pleural effusion. Transbronchial lung biopsy revealed lung adenocarcinoma. Thoracoscopic examination revealed multiple left pleural nodules, leading to the diagnosis of MPM. Despite aggressive anticancer drug therapy, he expired due to disease progression 2...
2019: Respiratory Medicine Case Reports
Yu M Zhou, Huma E Chaudhry, Amar Shah, Janna Andrews
Breast augmentation is the most common cosmetic surgery in the United States. Squamous cell carcinoma (SCC) of the breast raises suspicion of possibly metastatic origin. Here, we report an unusual case of implant-associated SCC of the breast post silicone gel breast implant. The patient is a 46-year-old female with SCC of the breast. She initially had silicone gel breast implantation for breast augmentation in 1995. She had multiple revisions due to swelling and hardening. In 2016, she underwent bilateral prosthesis explantation and bilateral capsulectomy...
October 3, 2018: Curēus
Carlos Eduardo Salazar-Mejía, María Elena García-Gutiérrez, María Inés Contreras-Salcido, Carlos Javier Rodríguez-Álvarez, Blanca Otilia Wimer-Castillo, Jackeline Grace Lara-Campos, Edio Llerena-Hernández, José Luis González-Vela, David Hernández-Barajas
Choriocarcinoma syndrome (CS) is a rare clinical entity within the spectrum of nonseminomatous germ-cell tumors (NSGCT). It is characterized by the abrupt establishment of rapidly progressive and hemorrhagic tumors associated with very high levels of the beta fraction of human chorionic gonadotropin ( β -hCG) and with a very poor prognosis, particularly in patients with β -hCG values above 50,000 IU/L. We present the case of a 17-year-old man with a sudden onset nonmassive hemoptysis. Physical examination revealed a right testicular mass...
2018: Case Reports in Oncological Medicine
Mridul Gupta, Radhika Annam, Joseph Bahgat, Margaret Eng
Lemierre's syndrome is a rare disease associated with significant morbidity and mortality. It begins with an oropharyngeal infection, which spreads locally to involve the internal jugular vein causing thrombophlebitis, followed by distant spread and metastatic infections. Affected individuals are commonly young adults. Causative organisms are usually oropharyngeal flora, most commonly being the anaerobe Fusobacterium necrophorum . Porphyromonas asaccharolytica is a rare etiological agent with only three cases being reported in the literature...
2018: Case Reports in Infectious Diseases
Inge Raadal Skov, Elisabeth Bendstrup, Jesper Rømhild Davidsen
This case report demonstrates 44-year old man, presenting with recurring clinical pneumonias during a period of over 1 year. The patient was clinically affected with, i.a., weight loss, finger clubbing and severely reduced diffusion capacity. Repetitive chest x-rays showed bilateral and consolidating infiltrates, and a high-resolution computed tomography of the thorax (HRCT) exposed ground glass opacities superimposed on a reticular pattern as the so-called 'crazy paving' pattern. A bronchoscopic alveolar lavage revealed alveolar proteinaceous material compatible with the diagnosis pulmonary alveolar proteinosis (PAP)...
2019: European Clinical Respiratory Journal
Kirsten Jorgensen, Monika Roychowdhury, Grace da Cunha, Young Bae Kim, John O Schorge
BACKGROUND: Gestational trophoblastic neoplasia rarely occurs in term pregnancies. Stage IV choriocarcinoma treated with conventional chemotherapy can result in death as a result of hemorrhagic sequelae at tumor sites. CASE: A 30-year-old woman at 34 weeks of gestation presented with a persistent cough, worsening dyspnea, and vaginal bleeding. Chest radiograph demonstrated innumerable lung nodules, and quantitative β-hcg concentration exceeded 1.3 million milli-international units/mL...
December 4, 2018: Obstetrics and Gynecology
Aude Gibelin, Antoine Parrot, Muriel Fartoukh, Nicolas de Prost
PURPOSE OF REVIEW: A prompt identification of the cause of acute respiratory failure (ARF)/acute respiratory distress syndrome (ARDS) is required in order to initiate a targeted treatment. Yet, almost 10% of ARDS patients have no identified ARDS risk factor at ARDS diagnosis. Numerous rare causes of ARF have been reported in this setting. The purpose of this review is to delineate the main rare causes of ARF/ARDS and to provide clinicians with a pragmatic diagnostic work-up. RECENT FINDINGS: Recent epidemiological data have proposed the identification of a subgroup of ARDS patients lacking exposure to common risk factors...
December 5, 2018: Current Opinion in Critical Care
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