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Cludia Farinha Patrícia Barreto Rita Coimbra Adela Iutis Maria Luz Cachulo Jos Cunha-Vaz Yara T. E. Lechanteur Carel B. Hoyng Rufino Silva 《Investigative ophthalmology & visual science》2022,63(9)
PurposeTo determine the association between rare genetic variants in complement factor H (CFH) and phenotypic features in age-related macular degeneration (AMD) patients from the Coimbra Eye Study (CES).MethodsAMD patients from the Incidence CES () underwent ophthalmologic examination and color fundus photography, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, and near-infrared imaging. Multimodal phenotypic characterization was carried out in a centralized reading center. The coding and splice-site regions of the CFH gene were sequenced through single-molecule molecular inversion probe–based next-generation sequencing in association with the EYE-RISK consortium. Variants with minor allele frequency <0.05 resulting in splice-site or protein change were selected. Differences in phenotypic features between carriers and noncarriers were analyzed using generalized estimated equations logistic regression models, considering intereye correlations.ResultsWe included 39 eyes of 23 patients carrying rare CFH variants and 284 eyes of 188 noncarriers. Carrier status was associated with having higher drusen burden in the macula in the inner Early Treatment Diabetic Retinopathy Study circle (odds ratio [OR], 5.44 [95% confidence interval {CI}, 1.61–18.37]; P = 0.006), outer circle (OR, 4.37 [95% CI, 1.07–17.77]; P = 0.04), and full grid (OR, 4.82 [95% CI, 1.13–20.52]; P = 0.033). In SD-OCT, a lower total macular volume and lower inner retinal layers’ volume (OR, 0.449 [95% CI, 0.226–0.894]; P = 0.023; OR, 0.496 [95% CI, 0.252–0.979]; P = 0.043) and pigment epithelial detachments (PEDs) (OR, 5.24 [95% CI, 1.08–25.44]; P = 0.04) were associated with carrying a rare CFH variant. Carriers with subretinal drusenoid deposits (SDD) had the rare variant P258L in all cases except one.ConclusionsWe identified in our cohort phenotypic differences between carriers and noncarriers of rare variants in the CFH gene. Carriers had more severe disease, namely superior drusen burden, PEDs, and thinner retinas. The rare variant P258L may be associated with SDD. Carriers are probably at increased risk of progression. NCT02748824相似文献
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洪德兵 《实用中医内科杂志》2013,(4):107-109
[目的]观察辨证论治与变量颈椎牵引及手法联合西药治疗颈性眩晕疗效。[方法]使用随机平行对照方法,将60例门诊患者按抽签法分为两组。对照组30例①5%葡萄糖氯化钠注射250mL加脉络宁20mL静滴,1次/d;尼莫地平40mg,3次/d,口服。②枕颌带坐位变量牵引,牵引质量2~10kg,(按患者体位和自我感觉有所增减)先由轻至重牵引,逐渐增至患者最大耐受限度,10~14d牵引质量再由重减轻,至病程完成。牵引时间每次10~30min,以患者能耐受为限,1次/d,14d为1疗程。③手法点、按、揉风池、百会、天柱、合谷、内关、大椎、肩贞、肩井等穴位。治疗组30例辨证论治。①肝阳上亢型,方以天麻沟藤饮加减。②气血亏虚型,方以归脾汤加减。③痰浊中阻型,方以半夏白术天麻汤加减。④肾精不足型,方以偏阳虚用右归丸加减,偏肾阴虚用左归丸加减。西医、牵引、手法治疗同对照组。连续治疗14d为1疗程。观测临床症状、不良反应。连续治疗疗程,判定疗效。[结果]治疗组临床治愈6例,显效14例,有效7例,无效3例,总有效率90.00%。对照组临床治愈2例,显效13例,有效7例,无效8例,总有效率73.33%。临床疗效治疗组优于对照组(P<0.05)。[结论]辨证论治、变量颈椎牵引及手法联合西药治疗颈性眩晕疗效满意,值得临床应用。 相似文献
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Eun Sil Her Sangha Lee Su-Jin Yang LiHae Park Mi Gyeong Park Seong-Ju Kim Yunmi Shin 《Journal of Korean medical science》2022,37(28)
BackgroundAs the coronavirus disease 2019 (COVID-19) has continued for a couple of years, the long-term effects of the pandemic and the subsequent school curriculum modification on the mental health of children and parents need to be investigated. To clarify the changes that can occur during one school year and to predict the risk factors for vulnerable groups, this study identified parameters relative to children’s screen time, their problematic behavior, and parental depression.MethodsA total of 186 participants were analyzed who were parents of elementary schoolchildren in South Korea. These parents were required to complete a web-based questionnaire twice. The questionnaires were conducted in June 2020 and September 2021. Participants’ general demographics including family income, children’s screen time, sleep patterns, problematic behavior, and parental depression were assessed via the parental questionnaire that included various measurement tools.ResultsChildren’s body mass index (BMI) increased significantly in 2021 (18.94 ± 3.75 vs. 18.14 ± 3.30, P < 0.001). Smartphone frequency of use per week (5.35 vs. 4.54, P < 0.001) and screen time per day (3.52 vs. 3.16, P < 0.001) significantly increased during the period of the COVID-19 pandemic. The television screen time (2.88 vs. 3.26, P < 0.001), frequency of viewing (3.77 vs. 4.77, P < 0.001), and children’s problematic behaviors significantly decreased (9.15 vs. 11.85, P < 0.001). A lower income household was a key predictor of increased smartphone frequency (B = 1.840, 95% confidence interval [CI], 0.923–2.757, P < 0.001) and smartphone screen time (B = 1.992, 95% CI, 1.458–2.525, P < 0.001). The results showed that the lower income household (B = 5.624, 95% CI, 2.927–8.320, P < 0.001) and a child’s psychiatric treatment history (B = 7.579, 95% CI, 5.666–9.492, P < 0.001) was the most significant predictor of problematic behaviors of children and parental depression (B = 3.476, 95% CI, 1.628–5.325, P < 0.001; B = 3.138, 95% CI, 1.827–4.450, P < 0.001).ConclusionThis study suggested that children’s smartphone screen time and BMI increased during COVID-19 because of the school curriculum modification following school closures in South Korea. The increased children’s problematic behaviors and parental depression were predicted by lower-income households and the previous psychiatric history of children. These results indicate that multiple social support systems to the vulnerable group are needed during the ongoing pandemic and that a modified school setting is required. 相似文献
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目的 比较超声检查和病理测量甲状腺乳头状癌(papillary thyroid carcinoma,PTC)肿瘤大小的差异,并分析其临床意义。方法 选取2012年6月~2014年6月杭州市第一人民医院收治的PTC 114例(共122枚癌灶),所有癌灶大小先后通过术前超声检查和术后组织病理测量确定,采用Pearson相关分析、配对t 检验和Bland-Altman作图评价两种方法测量肿瘤大小的差异性和一致性。结果 Pearson相关显示两种方法测量的肿瘤最大径存在显著正相关(r =0.957,P =0.000)。配对t 检验显示肿瘤的超声最大径(8.24±5.06)mm与病理最大径(7.79±4.75)mm存在显著性差异。Bland-Altman分析显示,两种方法测量的肿瘤最大径的差值绝对值介于0~6.5 mm之间,平均(1.03±1.14)mm,差值的一致性界限(l imit s of agreement,LoA)为-2.41 mm~3.33 mm,LoA的95%置信区间为-2.87 mm~3.78 mm,LoA置信区间范围内差值的最大绝对值为2.9 mm。结论 超声检查和病理测量PTC的肿瘤大小存在显著差异,两者的一致性欠佳,临床实践中应引起重视。 相似文献
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目的评估内镜下甲状腺切除术与常规甲状腺切除术相比的有效性及安全性。方法检索国内外数据库中比较内镜下甲状腺切除术与常规甲状腺切除术的随机对照试验。完成数据提取和文献质量评价后,采用RevMan5.1软件对数据进行Meta分析。结果本评价纳入11个研究共1398例患者。内镜下甲状腺切除术的优点有美容评分高[SMD=4.23,95%CI(2.66,5.80),P<0.05]、伤口满意度高[RR=2.25,95%CI(1.89,2.70),P<0.05]。缺点是手术时间长[SMD=1.02,95%CI(0.44,1.59),P<0.05]、术后引流量多[SMD=0.89,95%CI(0.56,1.23),P<0.05]。两种手术方式的并发症、复发率均无差别。结论内镜下甲状腺切除术适用于对美容要求高的患者,同时需考虑其优缺点及费用。 相似文献
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文章对近年来中医药治疗溃疡性结肠炎从病因病机、治疗方法,包括分型论治,以基础方加减,成药治疗及治则进行了文献综述,并对存在的问题及发展前景作了阐述。 相似文献
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目的了解本辖区内不同文化程度糖尿病患者疾病控制现状,为不同文化程度糖尿病患者的早期干预及治疗、护理决策提供依据。方法选择本辖区内病程1年以上的糖尿病患者600例,按文化程度分为"初中及以下"和"高中及以上"两组各300例。测量两组患者空腹血糖(FPG)、早餐后2h血糖(P2hPG)、糖化血红蛋白(HbA1c)、尿微量白蛋白(UAb)及眼底情况,并进行比较 使用糖尿病控制状况量表(CSSD-70)进行测评,比较不同文化程度患者的疾病控制情况差异。结果初中及以下的糖尿病患者FPG、P2hPG、HbA1c高于高中及以上文化程度患者(P〈0.05) 初中及以下文化程度糖尿病患者CSSD-70量表总分及生活习惯、生存技能、治疗目标、疾病知识维度得分均低于高中及以上文化程度患者(P〈0.05)。结论文化程度低的糖尿病患者疾病控制状况差于文化程度高的患者,因此要加强文化程度较低的糖尿病患者的治疗和管理水平,加强糖尿病健康教育,大力推广新的治疗策略,预防晚期并发症,提高生活质量,降低医疗费用。 相似文献