Niño con síndrome tricorrinofalángico tipo II acompañado de baja estatura / Triehorhinophalangeal syndrome type II presenting with short stature in a child

El síndrome tricorrinofalángico (STRF) tipo II (sinónimo: síndrome de Langer-Giedion) es un síndrome autosómico dominante raro que afecta genes adyacentes y que se produce como resultado de una microdeleción que abarca los genes EXTl y TRPSl en la banda 8q24 (OMIM 150230). En este síndrome se combinan características de dos trastornos autosómicos dominantes: el síndrome tricorrinofalángico tipo I (OMIM 190350) y la osteocondromatosis múltiple hereditaria tipo I (OMIM 133700). El STRF tipo II se caracteriza por escaso cabello, nariz prominente y de extremo bulboso, surco nasolabial plano y alargado, epífisis de las falanges en forma de cono, retraso de la edad ósea durante la infancia y osteocondromas cartilaginosos múltiples. En este artículo presentamos el caso de un paciente de Turquía con las características clínicas y los signos óseos del STRF tipo II en el que se detectó una deleción de 13,8 Mb en las bandas 8q23.1-8q24.13.

Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas. We report a Turkish patient who had the clinical features and skeletal signs of TRPSII in whom a 13.8Mb deletion in 8q23.1- 8q24.13 was detected.

Multiplex protein profiling of bronchoalveolar lavage in idiopathic pulmonary fibrosis and hypersensitivity pneumonitis

Idiopathic pulmonary fibrosis [IFF] and chronic hypersensitivity pneumonitis [HP] are diffuse parenchyma! lung diseases characterized by a mixture of inflammation and fibrosis, leading to lung destruction and finally death. The aim of this study was to compare different pathophysiological mechanisms, such as angiogenesis, coagulation, fibrosis, tissue repair, inflammation, epithelial damage, oxidative stress, and matrix remodeling, in both disorders using bronchoalveolar lavage [BAL]. At diagnosis, patients underwent bronchoscopy with BAL and were divided into three groups: Control [n = 10], HP [n = 11], and IPF [n = 11], based on multidisciplinary approach [clinical examination, radiology, and histology]: Multiplex searchlight technology was used to analyze 25 proteins representative for different pathophysiological processes: Eotaxin, basic fibroblast growth factor [FGFb], fibronectin, hepatocyte growth factor [HGF], interleukine [IL]-8, IL-12p40, IL-17, IL-23, monocyte chemotactic protein [MCP-1], macrophage-derived chemokine [MDC], myeloperoxidase [MPO], matrix metalloproteinase [MMP]-8, MMP-9, active plasminogen activating inhibitor 1 [PAI-1], pulmonary activation regulated chemokine [PARC], placental growth factor [PIGF], protein-C, receptor for advanced glycation end products [RAGE], regulated on activation normal T cells expressed and secreted [RANTES], surfactant protein-C [SP-C], transforming growth factor-pi [TGF-]31], tissue inhibitor of metalloproteinase-1 [TIMP-1], tissue factor, thymic stromal lymphopoietin [TSLP], and vascular endothelial growth factor [VEGF]. All patients suffered from decreased pulmonary function and abnormal BAL cell differential compared with control. Protein levels were increased in both IPF and HP for MMP-8 [P = 0.022], MMP-9 [P- 0.0020], MCP-1 [P - 0.0006], MDC [P = 0.0048], IL-8 [P - 0.013] MPO [P - 0.019] and protein-C [P = 0.0087], whereas VEGF was decreased [P = 0.0003] compared with control. HGF was upregulated in HP [P = 0.0089] and active PAI-1 was upregulated [P = 0.019] in IPF compared with control. Differences in expression between IPF and HP were observed for IL-12p40 [P = 0.0093] and TGF-p1 [P= 0.0045]. Using BAL, we demonstrated not only expected similarities but also important differences in both disorders, many related to the innate immunity. These findings provide new clues for further research in both disorders