一个四代家族性帕金森病大家系报告

目的 明确该家系所患疾病是否为家族性帕金森病.方法 详细调查先证者和家系成员临床资料,绘制该家系遗传图谱,以确定何种遗传学方式.结果 调查发现该家系共4代33例,已患病13例,可疑6例,发病年龄为33～53岁,病程3～18年,临床表现为典型PD,左旋多巴治疗有效.结论 该家系可确定是一个常染色体显性遗传的PD大家系.     

The evaluation of renal hemodynamics changes in Familial Mediterranean fever with color Doppler sonography

Background: Renal resistive index (RRI) scanned through renal Doppler is a practical marker employed in measuring blood flow in renal and intrarenal arteries and in noninvasive evaluation of renal vascular resistance. We aimed to investigate the renal hemodynamic variations in patients with Familial Mediterranean Fever (FMF).

Material and methods: Seventy-nine FMF patients and 51 healthy subjects suitable for age and sex were included. Patients were divided into two groups according to their urinary albumin excretion. Fifty-two patients with 0–29?mg/day albuminuria were included in the normoalbuminuric group while 27 patients with 30–299?mg/day albuminuria were included in the microalbuminuric group.

Results: RRI values were higher in patients with FMF compared to the healthy subjects (p?p?=?0.002, p?p?=?0.013.

Conclusion: RRI may be a marker that may be used in assessing resistance to renal blood flow, early renal damage, and progression of renal damage in FMF patients.     

Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons,mistakes, and the way forward

Familial hypercholesterolemia (FH) is a leading cause of premature atherosclerosis. Genetic defects in the LDLR, APOB and PCSK9 genes cause FH, and confirmation of a gene defect is essential for an indisputable diagnosis of the disease. FH is underdiagnosed and we aimed to revise the genetic defects that have been characterized in FH patients of Greek origin and define an effective, future strategy for genetic studies. A literature search was performed in MEDLINE and EMBASE on genetic studies with FH patients of Greek origin. To date, no APOB and PCSK9 mutations have been found in the Greek population. It must be noted however, that only a small number of patients has been screened for PCSK9 mutations. In total, 41 LDLR defects have been characterized, with 6 common mutations c.1646G>A (p.Gly546Asp), c.858C>A (p.Ser286Arg), c.81C>G (p.Cys27Trp), c.1285G>A (p.Val429Met), c.517T>C (p.Cys173Arg), and c.1775G>A (p.Gly592Glu) that account for >80% of all mutations. Due to geographic isolation, ​founder mutations exist in a subpopulation in North West Greece and the Greek Cypriot population but not in the general population. Genetic testing should focus primarily on LDLR, and subsequently on PCSK9 and APOB. The Greek population is genetically homogeneous, which allows for a quick molecular diagnosis of the disease. Cascade screening is feasible and will certainly facilitate the identification of additional patients.     

家族性腺瘤性息肉病癌变危险因素分析

目的 探讨家族性腺瘤性息肉病(FAP)相关性结直肠癌及其癌变危险因素,为监测预防FAP癌变提供依据。方法 收集我院确诊的65例FAP患者,根据患者是否发生癌变,分为FAP癌变组(35例)与未癌变组(30例),统计分析FAP相关性结直肠癌发生的危险因素。结果 在65例FAP患者中,35例患者经病理确诊发生癌变,癌变率为53.85%。发病年龄、腺瘤数量、腺瘤大小及腺瘤组织学类型是影响FAP癌变的相关因素(P<0.05),且和癌变呈显著正相关。结论 FAP癌变倾向极高,发病年龄、腺瘤数量、腺瘤大小及腺瘤组织学类型是影响FAP癌变的相关因素,与癌变呈正相关。     

No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: a descriptive study

OBJECTIVE: In order to enable clinicians to refer the right persons suspected of familial hypercholesterolemia (FH) for mutation screening, a retrospective study was conducted in a Danish FH cohort. DESIGN AND METHODS: The study comprised 643 probands and 395 relatives, of which 421 individuals had a pathogenic mutation, and 211 had cardiovascular disease (CVD). Logistic regression, Cox regression, and receiver operating characteristics (ROC) curves were used to find optimal predictive variables for mutation status and evaluate risk factors for CVD. RESULTS: Age alone had significant predictive power in both genders. ROC curves and area under the curve plots found no parameters capable of predicting mutation status. The only significant risk factor for CVD in both genders was mutation carrier status. CONCLUSIONS: No parameters could decipher mutation status a priori. All individuals fulfilling the FH criteria should therefore be referred in order to facilitate family tracing and genetic counseling.     

肝细胞核因子-1α基因突变协同腺瘤样结肠息肉病基因突变对家族性腺瘤性息肉病细胞增殖的影响

目的探讨肝细胞核因子-1α（HNF-1α）基因突变协同腺瘤样结肠息肉病基因（APC）突变对家族性腺瘤性息肉病（FAP）细胞增殖的影响。 方法利用RNA干扰技术,构建HNF-1α基因突变协同APC突变细胞模型,通过MTT法、克隆形成、划痕试验、细胞迁移、细胞侵袭及致瘤等实验观察HNF-1α基因突变协同APC突变对FAP细胞的增殖能力。 结果与单突变组比较,HNF-1α基因突变协同APC突变组FAP细胞具有较强的细胞克隆形成、细胞迁移、细胞侵袭及致瘤性。 结论HNF-1α基因协同APC突变促进了FAP细胞增殖。     

腹腔镜全结直肠切除治疗家族性腺瘤性息肉病伴癌变

目的 探讨腹腔镜辅助全结直肠切除手术在家族性腺瘤性息肉病(FAP)伴癌变中的安全性、可行性。方法 3例FAP伴癌变病例施行腹腔镜辅助全结直肠切除手术,总结手术经验,观察手术安全性、术后恢复情况以及短期随访结果。取同期开腹全结肠切除手术8例作为对照组。结果 腹腔镜组3例均顺利施行腹腔镜辅助全结肠、直肠切除术,无中转开腹手术病例,平均手术时间243.33(200-310)min,显著长于开腹组(P=0.028)。 平均术中出血量146.66(90-200)ml,肛门排气时间为术后1.33 d,住院时间14 d,略短于开腹组,尚未达统汁学差异;平均手术切口长度腹腔镜组为4.33 cm,显著短于开腹组19.38 cm(P<0.01)。腹腔镜组3例术后无严重并发症,术后均证实为FAP伴癌变,随访时间分别为25、15、10个月,无肿瘤局部复发与远处转移。结论 由具丰富腹腔镜外科经验的医师施行腹腔镜辅助全结直肠切除术治疗FAP安全、可行、有效,但需要进一步的手术病例积累及随机对照研究。