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10.1186/s13023-018-0780-z http://scihub22266oqcxt.onion/10.1186/s13023-018-0780-z C5870397!5870397!29580292     free     free     free Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Orphanet+J+Rare+Dis 2018 ; 13 (ä): ä Nephropedia Template TP {{tp|p=29580292|t=2018. Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood |pdf=|usr=}}{{29580292}} gab.com Text Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=29580292 #FOAvip Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded. Results: Pulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumothorax, and 4 developed scoliosis. The frequency of pulmonary complaints increased over time. The leading radiographic pattern was ground-glass opacities with a rapid increase in reticular pattern and traction bronchiectasis between initial and follow-up Computer tomography (CT) in all subjects. Honeycombing and cysts were newly detectable in 3 patients. Half of the patients received a lung biopsy for diagnosis; histological patterns were cellular non-specific interstitial pneumonia, usual interstitial pneumonia-like, and desquamative interstitial pneumonia. Conclusions: HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required. Electronic supplementary material: The online version of this article (10.1186/s13023-018-0780-z) contains supplementary material, which is available to authorized users. Twit Text FOAVip Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=29580292 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29580292 #FOAvip English Wikipedia <ref>{{Cite pmid|29580292}}</ref> Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood #MMPMID29580292 Hengst M; Naehrlich L; Mahavadi P; Grosse-Onnebrink J; Terheggen-Lagro S; Skanke LH; Schuch LA; Brasch F; Guenther A; Reu S; Ley-Zaporozhan J; Griese M Orphanet J Rare Dis 2018[]; 13 (ä): ä PMID29580292show ga Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. Methods: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded. Results: Pulmonary symptoms including dyspnea, coughing, need for oxygen, and clubbing started 3.3 years before the diagnosis was made at the mean age of 8.83 years (range 2-15). All children had recurrent pulmonary infections, 3 had a spontaneous pneumothorax, and 4 developed scoliosis. The frequency of pulmonary complaints increased over time. The leading radiographic pattern was ground-glass opacities with a rapid increase in reticular pattern and traction bronchiectasis between initial and follow-up Computer tomography (CT) in all subjects. Honeycombing and cysts were newly detectable in 3 patients. Half of the patients received a lung biopsy for diagnosis; histological patterns were cellular non-specific interstitial pneumonia, usual interstitial pneumonia-like, and desquamative interstitial pneumonia. Conclusions: HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required. Electronic supplementary material: The online version of this article (10.1186/s13023-018-0780-z) contains supplementary material, which is available to authorized users. äHermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease(epmc).pdf DeepDyve Pubget Overpricing