2022-12-232022-12-232018-01-11Beyens, A. vd. (2018). ''Arterial tortuosity syndrome: 40 new families and literature review''. Genetics in Medicine, 20(10), 1236-1245.1098-36001530-0366https://www.sciencedirect.com/science/article/pii/S1098360021046773https://doi.org/10.1038/gim.2017.253http://hdl.handle.net/11452/30071Çalışmada 64 yazar bulunmaktadır. Bu yazarlardan sadece Bursa Uludağ Üniversitesi mensuplarının girişleri yapılmıştır.Purpose: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10. Methods: We retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-beta signaling with immunohistochemistry for pSMAD2 and CTGF. Results: Stenoses, tortuosity, and aneurysm formation are widespread occurrences. Severe but rare vascular complications include early and aggressive aortic root aneurysms, neonatal intracranial bleeding, ischemic stroke, and gastric perforation. Thus far, no reports unequivocally document vascular dissections or ruptures. Of note, diaphragmatic hernia and infant respiratory distress syndrome (IRDS) are frequently observed. Skin and vascular biopsies show fragmented elastic fibers (EF) and increased collagen deposition. EM of skin EF shows a fragmented elastin core and a peripheral mantle of microfibrils of random directionality. Skin and end-stage diseased vascular tissue do not indicate increased TGF-beta signaling. Conclusion: Our findings warrant attention for IRDS and diaphragmatic hernia, close monitoring of the aortic root early in life, and extensive vascular imaging afterwards. EM on skin biopsies shows disease-specific abnormalities.eninfo:eu-repo/semantics/openAccessAneurysmArterial tortuosity syndromeElectron microscopyGLUT10Recessive cutis laxaMarfan-syndromeMutationsPulmonarySLC2A10VesselsSystemGenetics & heredityAdolescentAdultAortaArteriesBiopsyChildChild, preschoolConnective tissue growth factorFemaleGlucose transport proteins, facilitativeHernia, diaphragmaticHumansInfantJoint instabilityMaleMutationPedigreeRespiratory distress syndrome, newbornSkinSkin diseases, geneticSmad2 proteinTransforming growth factor betaVascular malformationsReview0004486657000172-s2.0-8505593772512361245201029323665Genetics & heredityCutis Laxa; Arterial Tortuosity Syndrome; MutationConnective tissue growth factorSmad2 proteinConnective tissue growth factorCTGF protein, humanGlucose transporterSLC2A10 protein, humanSmad2 proteinSMAD2 protein, humanTransforming growth factor betaAdultAortic aneurysmAortic stenosisArterial tortuosity syndromeReviewAutosomal recessive disorderBlood vessel biopsyBrain hemorrhageBrain ischemiaChildClinical articleClinical featureCollagen synthesisConnective tissue diseaseControlled studyDiaphragm herniaElastic fiberElectron microscopyFemaleFibrilGeneGene mutationHistologyHumanHuman cellHuman tissueInfantMaleMesenteric artery occlusionMolecular geneticsNeonatal hemorrhageNeonatal respiratory distress syndromeNucleotide sequencePhenotypePulmonary artery stenosisPylorus stenosisSkin biopsySLC2A10 geneStomach perforationTGF beta signalingVascular tissueAbnormalitiesAdolescentAortaArteryBiopsyCongenital blood vessel malformationDiagnostic imagingDiaphragm herniaGeneticsJoint instabilityMutationNeonatal respiratory distress syndromePathologyPathophysiologyPedigreePreschool childSkinSkin disease