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In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.
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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-ß 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-ß 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.
Asunto(s)
Arterias/anomalías , Proteínas Facilitadoras del Transporte de la Glucosa/genética , Hernia Diafragmática/genética , Inestabilidad de la Articulación/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Enfermedades Cutáneas Genéticas/genética , Malformaciones Vasculares/genética , Adolescente , Adulto , Aorta/diagnóstico por imagen , Aorta/fisiopatología , Arterias/diagnóstico por imagen , Arterias/fisiopatología , Biopsia , Niño , Preescolar , Factor de Crecimiento del Tejido Conjuntivo/genética , Femenino , Hernia Diafragmática/fisiopatología , Humanos , Lactante , Inestabilidad de la Articulación/epidemiología , Inestabilidad de la Articulación/fisiopatología , Masculino , Mutación , Linaje , Síndrome de Dificultad Respiratoria del Recién Nacido/fisiopatología , Piel/patología , Enfermedades Cutáneas Genéticas/epidemiología , Enfermedades Cutáneas Genéticas/fisiopatología , Proteína Smad2/genética , Factor de Crecimiento Transformador beta/genética , Malformaciones Vasculares/epidemiología , Malformaciones Vasculares/fisiopatologíaRESUMEN
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OBJECTIVES: Rheumatoid arthritis (RA) is a common, complex autoimmune disease known to be associated with inheritance of certain human leukocyte antigen (HLA)-DR alleles in different populations. This study investigated the association of DRB1 alleles in Kuwaiti patients with RA. MATERIALS AND METHODS: DRB1 alleles were analyzed in 47 Kuwaiti patients and 70 ethnically matched controls using a DNA-based sequence specific primer (SSP) method. RESULTS: The frequency of DRB1*04 allele was higher in patients compared to the controls (P < 0.012). The association with of HLA-DRB1*04 allele in our patients with RA was accounted for mainly by the seropositive group of patients (P < 0.05). Moreover, five patients were homozygous for DRB1*4 compared to none in the controls. None of the other DRB1 alleles tested was significantly higher in the patients. All patients homozygous for the DRB1*04 allele were females. There was no statistically significant difference in the frequency of DRB1*04 allele in patients classified according to presence of erosive disease or extra-articular manifestations. CONCLUSION: Our results indicate that in Kuwaiti patients, RA is associated with the presence of DRB1*04 allele. The lack of association with severity or the phenotype of RA is not surprising since this is a hospital-based study where patients tend to have a more severe disease.