Zobrazeno 1 - 10
of 699
pro vyhledávání: '"Pulmonary alveolar microlithiasis"'
Autor:
Parviz Mardani, Reyhaneh Naseri, Reza Shahriarirad, Hadiseh Mahram, Masoud Shafi, Tahmoores Niknam, Mohammad Bagher Khosravi, Mohammad Javad Fallahi, Armin Amirian
Publikováno v:
The Clinical Respiratory Journal, Vol 18, Iss 5, Pp n/a-n/a (2024)
Abstract Background Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive genetic disorder with approximately 1000 known cases worldwide, in which calcium phosphate microliths deposit in the alveolar air spaces. As of writing this rep
Externí odkaz:
https://doaj.org/article/a13caadefc2c4bc893ca7f0ef6852985
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundPulmonary alveolar microlithiasis (PAM) is a rare disease whose clinical and imaging manifestations are non-specific, characterized by the deposition of microliths, which primarily consist of calcium and phosphorus, within the alveoli. In t
Externí odkaz:
https://doaj.org/article/2ed51e895194455c85dd3a339fc792ee
Autor:
Åsa Lina M. Jönsson, Ole Hilberg, Ulf Simonsen, Jane Hvarregaard Christensen, Elisabeth Bendstrup
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease caused by variants in the SLC34A2 gene encoding the sodium-dependent phosphate transport protein 2B, NaPi-2b. PAM is characterized by deposition of calcium ph
Externí odkaz:
https://doaj.org/article/eda338914ccf4ad78ba9a4d7be092085
Publikováno v:
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Key Clinical Message We reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXO
Externí odkaz:
https://doaj.org/article/768226287c754bdeb567c2dd1032671e
Autor:
Amir Mohammad Hashem Asnaashari, Davood Attaran, Soroush Attaran, Parastou Asnaashari, Sahar Ravanshad, Sepide Hejazi
Publikováno v:
Journal of Cardio-Thoracic Medicine, Vol 10, Iss 3, Pp 1039-1043 (2022)
Pulmonary alveolar microlithiasis (PAM) is a rare inherited pulmonary disease characterized by the deposition of intra-alveolar calcium deposits. In most of the Asian and European countries, PAM is usually misdiagnosed as pulmonary tuberculosis and s
Externí odkaz:
https://doaj.org/article/3f693e0ac8a648aeaf11f846aed36493
Autor:
Åsa Lina M. Jönsson, Nati Hernando, Thomas Knöpfel, Susie Mogensen, Elisabeth Bendstrup, Ole Hilberg, Jane Hvarregaard Christensen, Ulf Simonsen, Carsten A. Wagner
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-11 (2022)
Abstract Background Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pulmonary alveolar microlithiasis (PAM). PAM is characterised by the deposition of calcium-phosphate concretio
Externí odkaz:
https://doaj.org/article/b26c4688d07040dca763b1684c455225
Autor:
Francesca Polit, Ferial Alloush, Cynthia Espinosa, Hisham F. Bahmad, Arman Gill, Laura Mendez, Gisel Urdaneta, Robert Poppiti, Monica Recine, Hernando Garcia
Publikováno v:
Respiratory Medicine Case Reports, Vol 42, Iss , Pp 101815- (2023)
Diffuse pulmonary ossification (DPO) is a rare pulmonary condition characterized by the diffuse formation of mature bone in the lungs. Pulmonary ossification, in general, can be subdivided into diffuse pulmonary ossification (DPO) and nodular pulmona
Externí odkaz:
https://doaj.org/article/e6c70bf7eb8f48ada2ac28564215f925
Autor:
Fabia Cruz, Diogo Batista, Cátia Pereira, Vera Durão, Rita Macedo, Richard Staats, Paula Pinto, Cristina Bárbara
Publikováno v:
European Journal of Case Reports in Internal Medicine (2022)
Pulmonary alveolar microlithiasis (PAM) is a genetic lung disorder that is characterized by the accumulation of calcium phosphate deposits in the alveolar spaces of the lung. PAM is discovered incidentally on radiographs performed for other purposes,
Externí odkaz:
https://doaj.org/article/4ffbd25d531148d289dd9782432fd7f5
Autor:
D Suresh Kumar, K Gokul
Publikováno v:
Journal of Association of Pulmonologist of Tamil Nadu, Vol 5, Iss 1, Pp 41-43 (2022)
Pulmonary alveolar microlithiasis (PAM) is a rare inherited disorder of sodium phosphate cotransporter which causes accumulation of microliths in alveoli. This is a case report of a 46-year-old female, came for surgical fitness for laparoscopic chole
Externí odkaz:
https://doaj.org/article/e6659f4566354dc29c7e20a0a5b8feba
Publikováno v:
Journal of Advanced Lung Health, Vol 2, Iss 3, Pp 112-114 (2022)
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder characterized by diffuse bilateral deposition of calcispherites in lung alveoli due to mutations in the SLC34A2 gene. Here, we presented a case of PAM in a young male who
Externí odkaz:
https://doaj.org/article/42b5b285974848a8a2d3b36cc414a13d