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A 49 years old woman (weight 68 kg, BMI 27.3 kg/m2) with heterozygous familial hypercholesterolemia (HeFH) and multiple statin intolerance with muscle aches and creatine kinase elevation, presented at the Outpatient Lipid Clinic of Verona University Hospital in May 2015. Hypercholesterolemia was firstly diagnosed during adolescence, followed in adulthood by a diagnosis of Cogan's syndrome, a rheumatologic disorder characterized by corneal and inner ear inflammation. No xanthomas, corneal arcus, or vascular bruits were detectable at physical examination. Screening for macrovascular complications did not reveal relevant damages. Ongoing medical therapy included salicylic acid, methylprednisolone, methotrexate, and protonic‐pump inhibitor. In the absence of specific lipid‐lowering therapy, plasma lipid levels at first visit were: total‐cholesterol = 522 mg/dL, LDL‐cholesterol = 434 mg/dL, HDL‐cholesterol = 84 mg/dL, triglycerides = 120 mg/dL, Lp(a) = 13 mg/dL. On December 2015, evolocumab 140 mg sc every 2 weeks was initiated. After a 24‐week treatment, the LDL‐cholesterol levels decreased by an average of 21.2% to 342 ± 22 mg/dL (mean ± SD). On May 2016, LDL‐apheresis (H.E.L.P.system) was started as add‐on therapy. Compared to the average levels obtained during the evolocumab monotherapy period, the LDL‐cholesterol was reduced by 49.4%, thus reaching an inter‐apheresis level (mean ± SD) of 173 ± 37 mg/dL. This report suggests that a combination therapy with evolocumab and lipoprotein‐apheresis may have synergic effects on circulating lipid levels. Its relevance as a highly effective treatment option for hyperlipidemia in HeFH patients warrants further investigation in larger datasets.  相似文献   
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Aim of the work: To evaluate the quality of life (QoL) in Familial Mediterranean Fever (FMF) patients, and determine its association with fatigue, depression, disease severity and other clinical parameters. Patients and methods: Sixty FMF patients were included. QoL was assessed by Short Form-36 (SF-36), depression by Hamilton Depression Scale (HDS), and fatigue by Fatigue severity scale (FSS). Disease severity score and Mutations of the Mediterranean fever (MEFV) gene were assessed. Results: The mean age of patients was 33.73 ± 9.81 years and disease duration 14.6 ± 12.1 years. They were 35 females and 25 males. FMF patients scored significantly higher in FSS (29.9 ± 17.6) and HDS (15.1 ± 8.5) compared to the control (10.6 ± 7.1 and 6.3 ± 9.4; p < 0.0001 respectively) while all SF36 sub-items except mental health were significantly lower (p < 0.05). MEFV gene mutation was present in 49 (81.7%) patients. The visual analogue scale of pain significantly negatively correlated with the FSS (p < 0.0001), HDS (p < 0.0001) and all SF36 sub-items except mental health (p < 0.0001). Disease duration, age of onset, and duration of attacks showed no significant correlation with FSS, HDS and SF36. Delay in diagnosis significantly correlated with FSS (p < 0.0001) and negatively with SF36 sub-items physical role (p = 0.02), general health (p = 0.01) and social functioning (p = 0.03). Age of diagnosis significantly correlated with FSS (p = 0.03) and negatively with SF36-vitality (p = 0.047). There was a significant effect of disease severity on QoL, fatigue and depression (p < 0.05). Conclusion: QoL is associated with fatigue, depression and disease severity in FMF patients. It should be used in routine clinical evaluation as an outcome measure in FMF.  相似文献   
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Secondary to the detection of a chronic anemia with a slightly increased Hb F level in a 7‐year-old boy carrying a hemoglobin (Hb) variant, we investigated the members of his family and found that they were related to the original case of Hb Calais. In the present study, we report the clinical and biological impacts of this Hb variant in various members of three generations of this family.  相似文献   
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林娟  韩键美 《海南医学院学报》2012,18(9):1333-1334,1338
目的:探讨亲情式护理方式在前列腺手术患者康复中的作用,为该类疾病的临床护理提供经验参考。方法:选择我院泌尿外科施行前列腺手术患者217例,随机分为两组,其中对照组(105例)采取传统护理方式,观察组(112例)采取亲情式护理方式。对患者治疗过程中的并发症及康复效果进行分析,并对患者满意度进行调查。结果:继发性出血等术后并发症在观察组112例患者中出现13例(11.6%),而在对照组中出现22例(21.0%),两组比较差异显著(P<0.05)。结论:较之传统的护理方式,亲情式护理方式可明显减少前列腺手术患者术后并发症的发生率,对患者的康复起着积极作用。  相似文献   
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Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays an essential role in the degradation of low‐density lipoprotein C (LDL‐C) receptors, and PCSK9 inhibitors have recently emerged as a potential treatment option to reduce LDL‐C. Our paper reviewed the current available Phase II clinical trials of PCSK9 inhibitors for the treatment of dyslipidemia. A second objective of this review was to evaluate the potential clinical role of PCSK9 inhibitors in the management of dyslipidemia. Studies evaluating the efficacy and safety of any PCSK9 inhibitors in patients with dyslipidemia were included. The monoclonal antibodies REGN727/SAR236553 and AMG145 have the most published clinical data. Seven phase II trials were retrieved that evaluated the efficacy and safety of REGN727/SAR236553 or AMG145 in patients with either hypercholesterolemia or heterozygous familial hypercholesterolemia (HeFH). These two agents significantly decreased LDL‐C levels either as monotherapy or in combination with other lipid‐lowering agents. REGN727/SAR236553 and AMG145 have been well tolerated. The ongoing phase III trials of these two agents are summarized. REGN727/SAR236553 and AMG145 have demonstrated the potential to further decrease LDL‐C levels when added to conventional lipid‐lowering therapy. Morbidity and mortality data are required to define their roles in clinical practice.  相似文献   
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