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Rare lung diseases

Lung-Chi Lee, Tsu-Heng Weng, Ke-Hao Huang, Hsin-Ting Lin, Chang-Min Liang, Ming-Cheng Tai, Jiann-Torng Chen, Ke-Hung Chien
RATIONALE: Madelung's disease is a specific type of benign symmetric lipomatosis, which is characterized by overgrowing fat distributed at the neck and shoulder. This excessive fat accumulation may occur in different regions, including vital organs, such as the larynx, trachea, or the orbits. Surgery is usually performed to correct the esthetic or functional concern of the affected area. There are only few case reports mentioned about the orbital involvement of this disease. This study aimed to describe a case of Madelung's disease with ocular complications and the successful treatment using tarsoconjunctival flap...
October 2018: Medicine (Baltimore)
Chiara Tersigni, Elisabetta Venturini, Carlotta Montagnani, Leila Bianchi, Elena Chiappini, Maurizio de Martino, Luisa Galli
Among parasitic hepatic cystic lesions, the most common disease is represented by cystic echinococcosis, especially in high endemic countries. European epidemiology of cystic echinococcosis in children is very difficult to assess because of under-reporting but is increasing, because of high immigration flows from endemic countries and an increased awareness. Hydatidosis can be localized in every part of the body. The liver and lungs are the most common localizations in both children and adults. Multi-organ involvement is rarely reported in children...
October 16, 2018: Journal of Pediatric Gastroenterology and Nutrition
Bat-El Bar Aluma, Lucy Norcliffe-Kaufmann, Ifat Sarouk, Adi Dagan, Moshe Ashkenazi, Yael Bezalel, Daphna Vilozni, Avishay Lahad, Ori Efrati
OBJECTIVES: Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy characterized by chronic lung disease and cyclic vomiting due to hyper-adrenergic crises. Most FD patients are in a depleted nutritional state; however the phenotype of the disease is quite different between patients, as for the severity of lung disease and the intensity and frequency of these pathognomonic crises. In this study we wanted to investigate whether resting energy expenditure (REE) levels are increased in this population, and if correlations exist between REE levels and phenotype severity...
October 16, 2018: Journal of Pediatric Gastroenterology and Nutrition
Yi-Chen Yeh, Hua-Lin Kao, Kang-Lung Lee, Mei-Han Wu, Hsiang-Ling Ho, Teh-Ying Chou
Lymphoepithelioma-like carcinoma (LELC) of the lung is a rare Epstein-Barr virus (EBV)-associated carcinoma. It is histologically characterized by a syncytial growth pattern with marked lymphocytic infiltration that is indistinguishable from the histology observed in undifferentiated nasopharyngeal carcinomas. However, it has been noted that LELC can display nonclassic morphology and lack significant lymphocytic infiltration. In this study, we conducted a comprehensive clinicopathologic analysis of 61 patients with pulmonary LELC and performed automatic quantification of the lymphocytic infiltrate using the IHC Profiler software...
October 16, 2018: American Journal of Surgical Pathology
Ryuya Edahiro, Hiroyuki Kurebe, Saeko Nakatsubo, Yuki Hosono, Nobuhiko Sawa, Kohei Nishida, Yuko Ohara, Yohei Oshitani, Hiroyuki Kagawa, Kazuyuki Tsujino, Kenji Yoshimura, Keisuke Miki, Mari Miki, Seigo Kitada, Masahide Mori
Diffuse pulmonary ossification (DPO) is an uncommon diffuse lung disease characterized by metaplastic bone formation in the lung parenchyma and is rarely diagnosed in life. While DPO usually occurs as a secondary disease, idiopathic cases are extremely rare. We describe three cases of idiopathic DPO, two of which were definitively diagnosed by surgical lung biopsy. One case was observed in a 43-year-old man with a history of recurrent pneumothorax who developed pneumothorax after the surgical biopsy. Few reports have described cases of DPO with recurrent pneumothorax; however, pneumothorax should be considered as a potential complication when such patients are encountered...
October 17, 2018: Internal Medicine
Findra Setianingrum, Riina Rautemaa-Richardson, David W Denning
Pulmonary cryptococcosis is an important opportunistic invasive mycosis in immunocompromised patients, but it is also increasingly seen in immunocompetent patients. The main human pathogens are Cryptococcus neoformans and C. gattii, which have a worldwide distribution. In contrast to cryptococcal meningitis, pulmonary cryptococcosis is still underdiagnosed because of limitations in diagnostic tools. It can mimic lung cancer, pulmonary tuberculosis, bacterial pneumonia, and other pulmonary mycoses both clinically and radiologically...
October 16, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
Massimiliano Salati, Cinzia Baldessari, Fiorella Calabrese, Giulio Rossi, Elisa Pettorelli, Giulia Grizzi, Massimo Dominici, Fausto Barbieri
Background: Pulmonary sarcomatoid carcinoma is a rare, poorly differentiated, and highly aggressive type of non-small cell lung cancer. High tumor mutational burden and PD-L1 overexpression make it an excellent candidate for immunotherapy. Objectives and Method: We presented the case of a patient who underwent left inferior lobectomy with concurrent right paravertebral muscular metastasectomy for an infiltrative neoplastic mass, whose final diagnosis was consistent with stage IV pulmonary sarcomatoid carcinoma...
September 2018: Case Reports in Oncology
A J Kim, H Ro, J H Chang, J Y Jung, W K Chung, Y H Park, H H Lee
Besides the initial description of IgG4-related pancreatic disease, other sites are now commonly involved. However, occurrence of IgG4-related disease is rare in organ transplanted patients. A 57-year-old man who received a kidney transplantation presented with recurrent dyspnea on exertion. A computed tomography scan of the chest revealed bilateral interlobular septal thickening and multiple tubular and branching small nodular lesions in the right upper lobe, and mass-like consolidation of the left middle lobe...
October 2018: Transplantation Proceedings
Fan Ma, Kaiyu Zhou, Yimin Hua, Xiaoliang Liu, Hongyu Duan, Yifei Li, Chuan Wang
RATIONALE: Chronic thromboembolic pulmonary hypertension (CTEPH) is rare in children and determining the underlying etiologies is essential for treatment. Venous thromboembolism, a well-known complication in nephrotic syndrome (NS), always occurrs during the treatment in course of the disease. However, CTEPH as the first manifestation of NS has not been reported till now. PATIENT CONCERNS: A 12-year-old boy initially complained of hemoptysis, cough and shortness of breath with exertion, any symptoms regarding NS such as edema were not presented...
October 2018: Medicine (Baltimore)
Shelvin K Vadi, Bhagwant R Mittal, Ashwani Sood, Gurpreet Singh, Amanjit Bal, Ashwin S Parihar, Anish Bhattacharya, Rajender K Basher, Rakesh Kapoor
PURPOSE: Male breast cancer (MBC) is a rare malignancy, with recurrence being one of the main adverse predictors for prognosis. The aim of the study was to evaluate the diagnostic and predictive value of fluorine-18-fluorodeoxyglucose (F-FDG) PET/CT in the setting of suspected recurrence of MBC. PATIENTS AND METHODS: Retrospective analysis of PET/CT findings was performed in 23 previously treated, histologically proven patients with MBC (mean age: 59.3±10.9 years; range: 36-79 years) with suspected recurrence...
October 11, 2018: Nuclear Medicine Communications
Masanobu Hayakawa, Kazuyuki Oda
Inflammatory myofibroblastic tumor (IMT) of the lung is a rare disease. The patient underwent the chemoradiotherapy for primary left lung cancer which showed complete responce (CR) by the treatment. A different nodule of 10 mm in diameter was found in the left lung by computed tomography (CT). Positron emission tomography(PET) showed positive detection correspond to the nodule ( SUVmax 4.82). A partial lung resection was carried out, and the tumor was diagnosed as IMT pathologically.
October 2018: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Zheng Wang, Francesco Bonella, Wenting Li, Eda B Boerner, Qiongya Guo, Xianglong Kong, Xiaoju Zhang, Ulrich Costabel, Michael Kreuter
The mechanisms of idiopathic pulmonary fibrosis (IPF), a rare, devastating disease with a median survival of 3-5 years, are not fully understood. Gastroesophageal reflux disease (GERD) is a frequent comorbidity encountered in IPF. Hypothetically, GERD-associated microaspiration may lead to persistent inflammation impairing lung infrastructure, thereby possibly accelerating the progression of IPF. IPF may increase intrathoracic pressure, which can aggravate GERD and vice versa. On the basis of the possible beneficial effects of antireflux or antacid therapy on lung function, acute exacerbation, and survival, the recent international IPF guideline recommends antacid therapies for patients with IPF, regardless of symptomatic GERD...
October 11, 2018: Respiration; International Review of Thoracic Diseases
L K Dzeranova, E A Pigarova, L S Selivanova, E A Tarabrin, K Yu Slashchuk, E E Bibik
Ectopic ACTH-syndrome is a relatively rare neuroendocrine disease. It is characterized by hypercortisolemia-associated severe complications that justifies need for timely diagnosis and radical therapy. Case report of young patient with ACTH-producing lung tumor is presented. There was 1-year diagnostic search on background of endogenous hypercorticism. Treatment resulted severe postoperative adrenal insufficiency that demonstrates current difficulties in management of these patients.
2018: Khirurgiia
Filip Mejza, Paweł Nastałek, Zbigniew Doniec, Wojciech Skucha
Introduction Chronic bronchitis (CB) symptoms are commonly reported in subjects without chronic obstructive pulmonary disease (COPD), but CB is rarely diagnosed in these subjects. Objectives We aimed to determine CB prevalence, burden and risk factors in population without COPD. Patients and methods Data from "Action Health - lung cancer prevention and health care improvement program" held in the Proszowice county was used. All county inhabitants aged 40 or above were invited to participate. A questionnaire to ascertain symptoms and risk factors, along with spirometry, both baseline and post bronchodilator, were administered as a part of the program...
October 10, 2018: Polish Archives of Internal Medicine
Marina Andjelkovic, Predrag Minic, Misa Vreca, Maja Stojiljkovic, Anita Skakic, Aleksandar Sovtic, Milan Rodic, Vesna Skodric-Trifunovic, Nina Maric, Jelena Visekruna, Vesna Spasovski, Sonja Pavlovic
Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD...
2018: PloS One
Engi Ahmed, Caroline Sansac, Mathieu Fieldes, Anne Bergougnoux, Chloé Bourguignon, Joffrey Mianné, Cécile Arnould, Isabelle Vachier, Said Assou, Arnaud Bourdin, John De Vos
Primary Ciliary Dyskinesia (PCD) is a rare heterogeneous genetic disorder affecting motile cilia structure and function leading to lung disease. We generated induced pluripotent stem cells (iPSCs) from dermal fibroblasts of a female PCD patient carrying disease-causing variants in the CCDC40 gene. Reprogramming was performed with the human OSKM transcription factors using the Sendai-virus delivery system. The resulting transgene free iPSCs had normal karyotype, expressed pluripotency markers, could differentiate into the three germ layers in vivo and retained the disease-causing CCDC40 mutations...
September 28, 2018: Stem Cell Research
Pietro Bertoglio, Andrea Viti, Simona Paiano, Luca Rosario Assante, Giuseppe Salvatore Bogina, Carlo Pomari, Giuseppe Zamboni, Alberto Claudio Terzi
IgG4-related disease (IgG4-RD) is a progressive inflammatory disease that might rarely involve only the lungs. We retrospectively reviewed the preoperative, clinical and surgical features of patients with a pathology highly suggestive or probable diagnosis of IgG4-RD without extra-thoracic involvement. Five patients were selected, 2 were operated on the right side. Positron emission tomography-computed tomography (PET-CT) showed an uptake in all the patients (median 5.5), and 2 patients had an uptake at the thoracic lymph nodes...
October 5, 2018: Interactive Cardiovascular and Thoracic Surgery
Christian Blume, Izabela Tuleta, Kay Nolte, Klaus W Eichhorn, Mark Jakob, Hans Clusmann, Thorsten Send
OBJECTIVE: Sarcoidosis is a multisystemic granulomatous disease of unknown cause which affects the lung or bilateral hilar lymphadenopathy in over 90% of the cases. Neurosarcoidosis (NS) is rare and accounts for approximately 5 - 15% of the cases. Involvement of all parts of the central and peripheral nervous system is possible with various clinical symptoms, e. g. seizures, hydrocephalus, optic/facial nerve palsy or hearing loss. METHODS: We screened the neuropathological data bases and the medical records of two neurosurgical university hospitals for cases of NS...
October 8, 2018: British Journal of Neurosurgery
Sebastien Dejust, David Morland, Claire Bruna-Muraille, Jean-Christophe Eymard, Gabriel Yazbek, Aude-Marie Savoye, Dimitri Papathanassiou
The everolimus-exemestane combination is indicated in advanced breast cancer treatment and usually well tolerated. The objective of the study was to determine the frequency of everolimus lung side effects and investigate their imaging characteristics on positron emission tomography with 18F-fluoro-deoxy-glucose combined with computerized tomography (F-FDG PET/CT).Our single-center retrospective descriptive study systematically included all patients with metastatic breast cancer treated by this combination (n = 29 representing 57 F-FDG PET/CT)...
October 2018: Medicine (Baltimore)
Ryota Tanaka, Keisei Tachibana, Kazuharu Suda, Haruhiko Kondo, Masayuki Noguchi
Severe combined immunodeficiency disease (SCID) mice with human lepidic adenocarcinoma were established by the intrabronchial implantation of fresh surgically resected specimens. Human pulmonary adenocarcinoma tissue from 16 different cases was transplanted into SCID mice, and SCID mouse tumors were established from four of these cases (25%). Among the four tumors, the tumor cells of two SCID mice showed replacement lepidic growth of mouse alveolar structures accompanied by multiple intrapulmonary lesions. Human lung carcinoma cell lines showing lepidic growth are rare and the xenograft models using the SCID mouse model developed in the current study will be useful for analyzing the growth and/or progression patterns and clinical behavior of lepidic adenocarcinoma, the major histological subtype of human carcinoma of the lung...
September 28, 2018: Pathology, Research and Practice
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