Clinical and genetic features of Chinese patients with lichen and macular primary localized cutaneous amyloidosis.

BACKGROUND: Primary localized cutaneous amyloidosis (PLCA) is a chronic pruritic skin disorder. The genetic basis of familial (f)PLCA involves mutations in the oncostatin M receptor (OSMR) and interleukin-31 receptor A (IL31RA) genes, but the disease pathophysiology is not fully understood. AIM: To investigate the OSMR mutation spectrum in patients with sporadic (s)PLCA/fPLCA, lichen/macular PLCA in mainland China. METHODS: This study was carried out on 64 patients with sPLCA, along with 36 with fPLCA and 10 unaffected individuals collected from 23 unrelated Chinese families. Genomic DNA was extracted from peripheral blood samples. Mutation screening of 17 OSMR exons was performed by Sanger sequencing. RESULTS: PLCA lesions are typically localized to the shins, forearm and back. Sequence analysis of OSMR exons demonstrated that the OSMR missense mutation rate in patients with fPLCA (63.89%) was significantly higher than that in patients with sPLCA (34.38%). The male/female ratio of patients carrying a homozygous OSMR mutation (0.29) was significantly lower than that of patients carrying a heterozygous OSMR mutation (1.08; P < 0.05) and of patients with wildtype OSMR (1.75; P < 0.01). Age of onset of PLCA with OSMR homozygous mutation (median age 20 years) was earlier than that of PLCA with OSMR heterozygous mutation (median age 32 years; P < 0.01) or PLCA with wildtype genotype (median age 32 years; P < 0.01). CONCLUSION: The present data indicate OSMR mutations as not only the main cause of fPLCA, but also the potential source of the pathogenesis of sPLCA, although the exact molecular mechanism remains unknown.

[Optical coherence tomographic analysis of in-stent neoatherosclerosis in lesions with restenosis after drug-eluting stent implantation].

Objective: To explore the imaging characteristics and related influencing factors of in-stent neoatherosclerosis (ISNA) in patients with restenosis after drug-eluting stent(DES) implantation with optical coherence tomography(OCT). Methods: A total of 25 cases of coronary heart disease patients(DES placement time ≥8 months) with coronary artery angiography showing DES in-stent restenosis (ISR) in Zunyi medical college affiliated hospital from July 2013 to December 2015 were included in this study and patient's data were retrospectively analyzed.In these patients with ISR, OCT images were acquired before percutaneous coronary intervention. Patients were divided into the ISNA group (12 patients and 12 lesions) and non-ISNA group(13 patients and 13 lesions) according to the result of OCT. ISNA on OCT was defined as neointima formation with the presence of lipids or calcification. Results: (1) The incidence of chronic kidney disease and increased low-density lipoprotein cholesterol level in ISNA group were significant higher than that in non-ISNA group(all P<0.05). The stent implantation time in ISNA group was longer than that in the non-ISNA group(53.0(14.0, 81.0) months vs. 15.0(8.5, 32.5) months, P<0.01). In addition, clinical manifestation of acute coronary syndrome was present in 8 out of 12 patientsin ISNA group, and stable angina pectoris was found in 10 out of 13 casesin non-ISNA group(P<0.01). (2) Quantitative analysis of OCT showed that the lumen area was less in ISNA group than in non-ISNA group((3.45±1.82)mm(2) vs. (4.17±1.68)mm(2), P<0.01), and neointimal area(3.89(2.26, 5.52)mm(2) vs. 2.96(1.99, 4.22)mm(2), P<0.01), neointimal load (53.15(40.18, 67.30)% vs. 41.54(32.08, 56.91)%, P<0.01), neointimal thickness(0.98(0.63, 1.36)µm vs. 0.72(0.51, 1.03)µm, P<0.01) were higher in ISNA group than in non-ISNA group.(3)Qualitative analysis of OCT showed that the prevalence of homogeneous intima was less in the ISNA group than in the non-ISNA group ((41.42±22.56)% vs.(72.06±18.68)%, P<0.05), on the contrary, the heterogeneous intima was more common in the ISNA group ((58.57±22.56)% vs. (27.94±18.68)%, P<0.05). There was no significant difference between two groups in the peri-stentmicrovessels (9/12 vs. 5/13,P>0.05), and prevalence of intraintimalmicrovessels was higher in the ISNA group than in non-ISNA group (7/12 vs. 2/13, P<0.05). In addition, thin cap fibrous plaque(7/12 vs. 0, P<0.01), disrupted intima with visible cavity (7/12 vs. 1/13, P<0.05),andintraluminal red thrombus(7/12 vs. 1/13, P<0.05) were significantly higher in ISNA group than in non-ISNA group. Conclusions: Results of OCT show that ISNA occurs frequently in patients with ISR after DES implantation. The stent implantation time, incidence of chronic kidney disease and higher low-density lipoprotein cholesterol level are associated with the formation of ISNA in these patients.

[Analysis of optical coherence tomography of early and very late stent restenosis after drug-eluting stent implantation].

Objective: Using optical coherence tomography (OCT) to analyze the morphological characteristics of lesions between early in-stent restenosis (E-ISR) and very late in-stent restenosis (VL-ISR) after drug-eluting stents (DES) implantation. Methods: In 25 patients (DES) with ISR, OCT images were acquired before percutaneous coronary intervention (PCI), the morphological characteristics of E-ISR (<1 years, n=14) and VL-ISR (>3 years, n=11) were compared.The quantitative and qualitative analysis of the entire stent and the minimum lumen area (MLA) site were carried out respectively. OCT quantitative restenotic tissue analysis included the assessment of mean lumen area, mean stent area, mean neointimal area and mean neointimal burden.OCT qualitative restenotic tissue analysis included the assessment of tissue structure [homogeneous or heterogeneous intima (lipid-rich neoitima, thin-cap fibroatheroma (TCFA)-like intima)], presence of microvessels, intraluminal material (red thrombus, pale thrombus), disrupted intima with cavity and tissue prolapse and was performed at every 1-mm slice of the entire stent. Results: Compared with the E-ISR group, the proportion of cross-sections with heterogeneous intima in the entire stent was significantly higher in the VL-ISR group (60.57% vs 32.93%, P=0.005), and both peristent and intraintimal microvessels were more frequently observed in the VL-ISR group (P<0.05). In addition, lipid-rich neointima (72.7% vs 21.4%, P=0.017), TCFA-like intima (54.5% vs 7.1%, P=0.021), disrupted intima with visible cavity (63.6% vs 7.1%, P=0.007) and red thrombus (63.6% vs 7.1%, P=0.007) were observed more frequently in the VL-ISR group compared with E-ISR group for the entire stent.The heterogeneous intima was observed more frequently in the VL-ISR group (90.9% vs 35.7%, P=0.012) at the MLA sites.Intraintimal microvessels and disrupted intima with visible cavity were observed only in the VL-ISR group. Conclusions: OCT imaging indicates that the morphological characteristics of restenosis lesions in VL-ISR are different from those in E-ISR.The atherosclerotic changes of neointima, such as lipid-rich neointima, disrupted intima with cavity and microvessels are more often observed in VL-ISR lesions after DES implantation compared with E-ISR.Progression of the atherosclerosis within neointima after DES implantation may be associated with VL-ISR.