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Alveolar proteinosis

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https://www.readbyqxmd.com/read/29775242/mutations-in-mars-identified-in-a-specific-type-of-pulmonary-alveolar-proteinosis-alter-methionyl-trna-synthetase-activity
#1
Martine Comisso, Alice Hadchouel, Jacques de Blic, Marc Mirande
Biallelic missense mutations in MARS are responsible for rare but severe cases of pulmonary alveolar proteinosis (PAP) prevalent on the island of La Réunion. MARS encodes cytosolic methionyl-tRNA synthetase (MetRS), an essential translation factor. The multisystemic effects observed in patients with this form of PAP is consistent with a loss-of-function defect in an ubiquitously expressed enzyme. The pathophysiological mechanisms involved in MARS related PAP are currently unknown. In this work, we analyzed the effect of the PAP related mutations in MARS on the thermal stability and on the catalytic parameters of the MetRS mutants, relative to wild-type...
May 18, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29768688/ppar-%C3%AE-in-innate-and-adaptive-lung-immunity
#2
REVIEW
Samuel Philip Nobs, Manfred Kopf
The transcription factor PPAR-γ (peroxisome proliferator-activated receptor-γ) is a key regulator of lung immunity exhibiting multiple cell type specific roles in controlling development and function of the lung immune system. It is strictly required for the generation of alveolar macrophages by controlling differentiation of fetal lung monocyte precursors. Furthermore, it plays an important role in lung allergic inflammation by licensing lung dendritic cell t helper 2 (Th2) priming capacity as well as acting as a master transcription factor for pathogenic Th2 cells...
May 16, 2018: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/29719809/autoimmune-pulmonary-alveolar-proteinosis-in-an-adolescent-successfully-treated-with-inhaled-rhgm-csf-molgramostim
#3
Marta E Gajewska, Sajitha S Sritharan, Eric Santoni-Rugiu, Elisabeth M Bendstrup
Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare parenchymal lung disease characterized by accumulation of surfactant in the airways with high levels of granulocyte-macrophage colony stimulating factor (GM-CSF) antibodies in blood. Disease leads to hypoxemic respiratory failure. Whole lung lavage (WLL) is considered the first line therapy, but procedure can be quite demanding, specifically for children. Recently alternative treatment options with inhaled GM-CSF have been described but no consensus about the standard treatment exists...
2018: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/29709938/a-case-of-pulmonary-alveolar-proteinosis-with-ulcerative-colitis
#4
Noriho Sakamoto, Shota Nakashima, Hiroshi Ishimoto, Tomoyuki Kakugawa, Atsuko Hara, Hirokazu Yura, Takuto Miyamura, Seiko Nakamichi, Yasushi Obase, Yuji Ishimatsu, Hiroshi Mukae
A 65-year-old Japanese man was referred to our hospital for the further assessment of cough and dyspnea. He had a history of ulcerative colitis for which he was receiving treatment. Chest computed tomography showed a crazy-paving pattern. His bronchoalveolar lavage fluid had a milky appearance, and a transbronchial lung biopsy specimen revealed acellular periodic acid-Schiff stain-positive bodies. The serum anti-GM-CSF antibody titer was elevated. The diagnosis was autoimmune pulmonary alveolar proteinosis (PAP)...
April 27, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29695229/rituximab-for-auto-immune-alveolar-proteinosis-a-real-life-cohort-study
#5
Berenice Soyez, Raphael Borie, Cedric Menard, Jacques Cadranel, Leonidas Chavez, Vincent Cottin, Emmanuel Gomez, Sylvain Marchand-Adam, Sylvie Leroy, Jean-Marc Naccache, Hilario Nunes, Martine Reynaud-Gaubert, Laurent Savale, Abdellatif Tazi, Lidwine Wemeau-Stervinou, Marie-Pierre Debray, Bruno Crestani
BACKGROUND: Whole lung lavage is the current standard therapy for pulmonary alveolar proteinosis (PAP) that is characterized by the alveolar accumulation of surfactant. Rituximab showed promising results in auto-immune PAP (aPAP) related to anti-GM-CSF antibody. METHODS: We aimed to assess efficacy of rituximab in aPAP in real life and all patients with aPAP in France that received rituximab were retrospectively analyzed. RESULTS: Thirteen patients were included...
April 25, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29690908/adenosine-deaminase-deficiency-a-review
#6
REVIEW
Aisling M Flinn, Andrew R Gennery
Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. Whilst most notable affects are on lymphocytes, other manifestations include skeletal abnormalities, neurodevelopmental affects and pulmonary manifestations associated with pulmonary-alveolar proteinosis. Affected patients present in early infancy, usually with persistent infection, or with pulmonary insufficiency...
April 24, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29688922/the-use-of-high-frequency-percussive-ventilation-for-whole-lung-lavage-a-case-report
#7
Sudhakar Kinthala, Mark Liang, Felix Khusid, Sebron Harrison
Whole-lung lavage (WLL) remains the gold standard in the treatment of pulmonary alveolar proteinosis. However, anesthetic management during WLL can be challenging because of the risk of intraoperative hypoxemia and various cardiorespiratory complications of 1-lung ventilation. Here, we describe a novel strategy involving the application of high-frequency percussive ventilation using a volumetric diffusive respirator (VDR-4) during WLL in a 47-year-old woman with pulmonary alveolar proteinosis. Our observations suggest that high-frequency percussive ventilation is a potentially effective ventilation strategy during WLL that may reduce the risk of hypoxemia and facilitate lavage...
April 23, 2018: A&A practice
https://www.readbyqxmd.com/read/29652291/whole-lung-lavage-in-a-patient-with-pulmonary-alveolar-proteinosis
#8
Lindsay R Hunter Guevara, Shane M Gillespie, Alan M Klompas, Norman E Torres, David W Barbara
Pulmonary alveolar proteinosis (PAP) is a rare syndrome in which phospholipoproteinaceous matter accumulates in the alveoli leading to compromised gas exchange. Whole-lung lavage is considered the gold standard for severe autoimmune PAP and offers favorable long-term outcomes. In this case report, we describe the perioperative management and procedural specifics of a patient undergoing WLL for PAP in which an anesthesiologist serves as the proceduralist and a separate anesthesiologist provides anesthesia care for the patient...
April 2018: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/29652170/pulmonary-transplantation-of-human-ipsc-derived-macrophages-ameliorates-pulmonary-alveolar-proteinosis
#9
Christine Happle, Nico Lachmann, Mania Ackermann, Anja Mirenska, Gudrun Göhring, Kathrin Thomay, Adele Mucci, Miriam Hetzel, Torsten Glomb, Takuji Suzuki, Claudia Chalk, Silke Glage, Oliver Dittrich-Breiholz, Bruce Trapnell, Thomas Moritz, Gesine Hansen
Rationale While the transplantation of induced pluripotent stem cell (iPSC)-derived cells harbors enormous potential for the treatment of pulmonary diseases, in vivo data demonstrating clear therapeutic benefits of human iPSC-derived cells in lung disease models is missing. Objective We here tested the therapeutic potential of iPSC-derived macrophages in a humanized disease model of hereditary pulmonary alveolar proteinosis (herPAP). herPAP is caused by a genetic defect of the GM-CSF-receptor, which leads to disturbed macrophage differentiation and protein/surfactant degradation in the lungs subsequently resulting in severe respiratory insufficiency...
April 13, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29626540/supramolecular-assembly-of-human-pulmonary-surfactant-protein-sp-d
#10
R Arroyo, A Martin-González, M Echaide, A Jain, W H Brondyk, J Rosenbaum, F Moreno-Herrero, J Perez-Gil
Pulmonary surfactant protein D (SP-D) is a glycoprotein from the collectin family that is a component of the lung surfactant system. It exhibits host defense and immune regulatory functions in addition to contributing to the homeostasis of the surfactant pool within the alveolar airspaces. It is known that the SP-D monomer forms trimers, which further associate into higher order oligomers. However, the pathway and the interactions involved in the assembly of SP-D oligomers are not clearly understood. In the current study, a recombinant form of full-length human SP-D (rhSP-D) has been qualitatively and quantitatively studied by Atomic Force Microscopy (AFM) and electrophoresis, with the aim to understand the conformational diversity and the determinants defining the oligomerization of the protein...
April 4, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29607238/pulmonary-alveolar-proteinosis-in-setting-of-inhaled-toxin-exposure-and-chronic-substance-abuse
#11
Meirui Li, Salem Alowami, Miranda Schell, Clive Davis, Asghar Naqvi
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which defects in alveolar macrophage maturation or function lead to the accumulation of proteinaceous surfactant in alveolar space, resulting in impaired gas exchange and hypoxemia. PAP is categorized into three types: hereditary, autoimmune, and secondary. We report a case of secondary PAP in a 47-year-old man, whose risk factors include occupational exposure to inhaled toxins, especially aluminum dust, the use of anabolic steroids, and alcohol abuse, which in mice leads to alveolar macrophage dysfunction through a zinc-dependent mechanism that inhibits granulocyte macrophage-colony stimulating factor (GM-CSF) receptor signalling...
2018: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29592982/pulmonary-alveolar-proteinosis-following-cryptococcal-meningitis-a-possible-cause
#12
Sarah Demir, Nader Chebib, Francoise Thivolet-Bejui, Vincent Cottin
Autoimmune pulmonary alveolar proteinosis (PAP) is a rare interstitial lung disease characterised by the presence of granulocyte macrophage colony-stimulating factor (GM-CSF) autoantibodies. A man with no history of infection developed cryptococcal meningitis and a right parahilar cryptococcal mass. Antifungal treatment led to infection control, although there was presence of neurological sequelae. After 3 years, thoracic CT revealed bilateral ground glass opacities and a crazy paving pattern. Transparietal needle biopsy showed proteinaceous alveolar deposits, confirming the diagnosis of PAP...
March 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29577041/peripheral-alveolar-nitric-oxide-concentration-reflects-alveolar-inflammation-in-autoimmune-pulmonary-alveolar-proteinosis
#13
Taizou Hirano, Shinya Ohkouchi, Naoki Tode, Makoto Kobayashi, Manabu Ono, Teruyuki Satoh, Yoichiro Mitsuishi, Akira Watanabe, Masao Tabata, Toshiya Irokawa, Hiromasa Ogawa, Hisatoshi Sugiura, Toshiaki Kikuchi, Keiichi Akasaka, Ryushi Tazawa, Yoshikazu Inoue, Koh Nakata, Hajime Kurosawa, Masakazu Ichinose
Nitric oxide and alveolar macrophage inflammation http://ow.ly/czCx30i12n8.
January 2018: ERJ Open Research
https://www.readbyqxmd.com/read/29517585/genetic-causes-and-clinical-management-of-pediatric-interstitial-lung-diseases
#14
Nadia Nathan, Keren Borensztajn, Annick Clement
PURPOSE OF REVIEW: Interstitial lung disease (ILD) in children (chILD) is an umbrella term for a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and implicates genetic contributors. The purpose of this review is to provide updated information on the molecular defects associated with the development of chILD. RECENT FINDINGS: Currently, the main mutations are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, and NKX2-1...
May 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29490416/an-eleven-year-retrospective-cross-sectional-study-on-pulmonary-alveolar-proteinosis
#15
Arda Kiani, Tahereh Parsa, Parisa Adimi Naghan, Hervé Dutau, Fatemeh Razavi, Behrooz Farzanegan, Mahsa Pourabdollah Tootkaboni, Atefeh Abedini
INTRODUCTION: Pulmonary alveolar proteinosis (PAP) is a rare disease in the field of pulmonary medicine. The efficacy of whole-lung lavage (WLL) as the treatment of PAP had never been evaluated in the Iranian population. Therefore, there is a real need to investigate the characteristics of PAP and also to evaluate the efficacy of WLL in this rare disease. The study aimed to investigate demographic features, clinical presentation and treatment outcomes of the disease in Iranian PAP patients...
2018: Advances in Respiratory Medicine
https://www.readbyqxmd.com/read/29484482/new-interplay-between-interstitial-and-alveolar-macrophages-explains-pulmonary-alveolar-proteinosis-pap-induced-by-indium-tin-oxide-particles
#16
François Huaux, Valentin De Gussem, Astrid Lebrun, Yousof Yakoub, Mihaly Palmai-Pallag, Saloua Ibouraadaten, Francine Uwambayinema, Dominique Lison
Occupational exposure to indium tin oxide (ITO) particles has been associated with the development of severe lung diseases, including pulmonary alveolar proteinosis (PAP). The mechanisms of this lung toxicity remain unknown. Here, we reveal the respective roles of resident alveolar (Siglec-Fhigh AM) and recruited interstitial (Siglec-Flow IM) macrophages contributing in concert to the development of PAP. In mice treated with ITO particles, PAP is specifically associated with IL-1α (not GM-CSF) deficiency and Siglec-Fhigh AM (not Siglec-Flow IM) depletion...
April 2018: Archives of Toxicology
https://www.readbyqxmd.com/read/29455859/heterozygous-mutations-in-oas1-cause-infantile-onset-pulmonary-alveolar-proteinosis-with-hypogammaglobulinemia
#17
Kazutoshi Cho, Masafumi Yamada, Kazunaga Agematsu, Hirokazu Kanegane, Noriko Miyake, Masahiro Ueki, Takuma Akimoto, Norimoto Kobayashi, Satoru Ikemoto, Mishie Tanino, Atsushi Fujita, Itaru Hayasaka, Satoshi Miyamoto, Mari Tanaka-Kubota, Koh Nakata, Masaaki Shiina, Kazuhiro Ogata, Hisanori Minakami, Naomichi Matsumoto, Tadashi Ariga
Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding a surfactant phospholipid transporter in alveolar type II epithelial cells. GPAP is also caused by mutations in genes whose products are implicated in surfactant catabolism in alveolar macrophages (AMs). We performed whole-exome sequence analysis in a family affected by infantile-onset PAP with hypogammaglobulinemia without causative mutations in genes associated with PAP: SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB, and GATA2...
March 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29448164/the-toxicology-of-indium-oxide
#18
REVIEW
Ernst M Bomhard
Indium oxide (In2 O3 ) is a technologically important semiconductor essentially used, doped with tin oxide, to form indium tin oxide (ITO). It is poorly soluble in all so far tested physiologic media. After repeated inhalation, In2 O3 particles accumulate in the lungs. Their mobilization can cause significant systemic exposure over long periods of time. An increasing number of cases of severe lung effects (characterized by pulmonary alveolar proteinosis, emphysema and/or interstitial fibrosis) in workers of the ITO industry warrants a review of the toxicological hazards also of In2 O3 ...
March 2018: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/29434585/the-activin-a-peroxisome-proliferator-activated-receptor-gamma-axis-contributes-to-the-transcriptome-of-gm-csf-conditioned-human-macrophages
#19
Concha Nieto, Rafael Bragado, Cristina Municio, Elena Sierra-Filardi, Bárbara Alonso, María M Escribese, Jorge Domínguez-Andrés, Carlos Ardavín, Antonio Castrillo, Miguel A Vega, Amaya Puig-Kröger, Angel L Corbí
GM-CSF promotes the functional maturation of lung alveolar macrophages (A-MØ), whose differentiation is dependent on the peroxisome proliferator-activated receptor gamma (PPARγ) transcription factor. In fact, blockade of GM-CSF-initiated signaling or deletion of the PPARγ-encoding gene PPARG leads to functionally defective A-MØ and the onset of pulmonary alveolar proteinosis. In vitro , macrophages generated in the presence of GM-CSF display potent proinflammatory, immunogenic and tumor growth-limiting activities...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29403217/cytopathological-examination-of-bronchoalveolar-lavage-fluid-in-diagnosis-of-pulmonary-alveolar-proteinosis
#20
Manjari Kishore, Manju Kaushal, Desh Deepak, Manju Kumari
Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the deposition of extracellular lipoproteinaceous material within the air spaces. Although the diagnosis is mainly based on histopathological findings, sometimes, the diagnostic yield of transbronchial and even open lung biopsy can be unsatisfactory. The advantage with bronchoalveolar lavage (BAL) cytology is that apart from being safer for the patient, it can sample a much wider area and help in giving an early diagnosis and treatment to the patient...
January 2018: Journal of Laboratory Physicians
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