辛伐他汀5mg与普伐他汀10mg治疗高胆固醇血症的比较

目的：探讨低剂量辛伐他汀治疗高胆固醇血症的临床疗效及耐受性。方法：低、中度原发性高胆固醇血症病人６２例，随机分为２组，Ａ组３１例（男性２６例，女性５例；年龄６４±ｓ１４ａ）采用辛伐他汀５ｍｇ，ｐｏ，ｑｄ。Ｂ组３１例（男性２５例，女性６例；年龄６１±１３ａ）采用普伐他汀１０ｍｇ，ｐｏ，ｑｄ。疗程均为４ｗｋ。结果：辛伐他汀组在降低ＴＣ，ＬＤＬ＿ｃｈ及提高ＨＤＬ＿ｃｈ的平均变化率上分别为１７％±９％，２５％±１２％（Ｐ＜０．０１）和１１％±１１％（Ｐ＞０．０５），与普伐他汀组疗效相当，组间比较，Ｐ值＞０．０５。２种药物治疗期间病人均无显著不良反应。结论：小剂量辛伐他汀疗效可与普伐他汀媲美，５ｍｇ／ｄ可作为治疗高胆固醇血症的起始剂量     

家族性颅骨锁骨发育不全的影像学表现(附6例分析)

目的探讨家族性锁骨颅骨发育不全的X线及CT表现特征。方法分析6例(2个家庭)锁骨颅骨发育不全的临床、X线及CT表现,并从遗传学角度进行探讨。结果家族性锁骨颅骨发育不全的X线及CT表现主要为颅顶膨隆或下陷、囟门未闭、颅缝增宽、多发缝间骨、颅底相对较窄,蝶骨短、蝶窦小,颅底骨明显增厚,并呈棉花团状改变,边缘模糊、牙齿发育不良、锁骨发育不全或缺如、全身骨骼发育不全。结论家族性锁骨颅骨发育不全的X线及CT表现具有特征性,能够作出正确的诊断。     

Familial homozygous hypercholesterolemia: clinical and cardiovascular features in 18 patients

Homozygous familial hypercholesterolemia (HFH) is a very rare autosomal dominant disease characterized by accelerated severe atherosclerosis. We examined 18 patients from 9 families with HFH. The age range was 6-30 years (mean = 16 years). Male to female ratio was equal. All patients had huge, multiple tuberous xanthomas on the skin and tendons. Mean +/- standard deviation of plasma cholesterol, triglycerides, low-density lipoproteins (LDL), and high-density lipoproteins (HDL) cholesterol levels were 608 +/- 89, 122 +/- 39, 550 +/- 88, and 26 +/- 8 mg/dl, respectively. Five patients (28%) had angina pectoris, two sustained a myocardial infarction, and one died at the age of 15 years. Two-dimensional echocardiography demonstrated supravalvular aortic stenosis in 3 of the 13 patients (23%). Coronary arteriography performed in 11 patients demonstrated significant obstruction in 6 patients, 2 each with single-, double-, and triple-vessel disease. Left main stenosis was present in 3 patients (27%). Supravalvular aortic narrowing was demonstrated in 6 patients (54%) and was associated with a gradient in 2 (25 and 35 mmHg, respectively). Segmental contraction abnormalities were detected in 2 of the 11 patients (18%). It is concluded that coronary artery disease is prevalent in patients with HFH and, based on the data presented, we recommend the performance of noninvasive technique, coronary arteriography and supravalvular aortography at an early age to detect and to follow the progression of the disease.     

The impact of new screening protocol on individuals at increased risk of colorectal cancer

OBJECTIVE: Screening colonoscopy has been shown to reduce mortality and cancer stage in hereditary nonpolyposis colorectal cancer (HNPCC) individuals. However, the benefit of screening in intermediate risk groups is unknown. The most recent national guidelines have recommended a reduction of screening frequency for the intermediate risk group. Therefore, this study aims to compare the results of colonoscopic screening in HNPCC and intermediate risk groups and assess the effect of the most recent screening protocol recommendations. METHOD: A total of 244 individuals; 108 from HNPCC families (28 mismatch repair gene carriers) and 136 from intermediate risk families were referred for regular colonoscopic screening by the Regional Genetics Service. Findings from 417 colonoscopies performed between 1992 and 2003 were evaluated. RESULTS: A total of three cancers, 39 adenomas and 41 hyperplastic polyps were found in the HNPCC group compared with one cancer, 22 adenomas and 19 hyperplasic polyps in the intermediate risk group. If the recent screening guidelines for the intermediate group were applied, then 89 (44%) fewer colonoscopies would have been performed. Although no cancers would have been missed, six adenomas (mean size = 5.7 mm, range 2-10 mm) with two graded as severely dysplasic and six hyperplastic polyps would not have been detected. CONCLUSION: The detection rate and distribution of adenomas were similar in both groups. If the new colonoscopic screening recommendations for the intermediate risk group had been applied, a small number of significant lesions would have been missed.     

Alzheimer's disease: identical phenotype of familial and non-familial cases

Summary Ninety outpatients with Alzheimer's disease according to ICD-10 diagnostic draft criteria were studied to test the hypothesis that cases with a familial aggregation are different from cases without such an aggregation with respect to cognitive impairment. In all cases the diagnosis of Alzheimer's disease was confirmed by prospective observation within 12 months of initial evaluation. Patients were divided into two groups: one consisting of 23 patients with a familial aggregation, the other consisting of 67 patients without secondary cases among first-degree relatives. By means oft-tests differences in impairment of cognitive functions between the groups were calculated. The results did not yield statistically significant differences between the groups for any of the neuropsychologically investigated cognitive deficits. Thus the hypothesis that the presence of a familial aggregation may lead to a distinct phenotype in Alzheimer's disease was not confirmed.     

Sequential occurrence of IgA nephropathy and Henoch-Schönlein purpura: support for common pathogenesis

We report a patient who developed Henoch-Schönlein purpura (HSP) 13 years after he presented with IgA nephropathy (IgAN). In both HSP and IgAN renal biopsy most commonly reveals focal proliferative glomerulonephritis on light microscopy and immunofluorescence displays mesangial IgA deposits. In addition, patients with HSP or IgAN have elevated serum IgA levels, circulating IgA immune complexes, IgA-bearing lymphocytes, immunoglobulin-producing cells, and binding of IgG to glomerular components of similar molecular weight. The occurrence of both diseases in the same patient or the same families and the presence of immune abnormalities compatible with HSP or IgAN in relatives of patients with these diseases suggest a common pathogenesis.     

Familial Juvenile Nephronophthisis in Two Siblings — Histological Findings at an Early Stage —

We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN.     

Familial fixed subaortic stenosis

In this report, we give details of two families in which fixed subaortic stenosis was found in more than one member. It is rare for this entity to show familial incidence.     

儿童意外伤害及事故倾性的家族聚集性分析

目的:探讨意外伤害及事故倾性的家族聚集性,为将来阐明遗传因素在其中的作用提供初步线索。方法:以事故倾性儿童为先证者,采用病例对照研究方法研究579个核心家系(291个先证家系和288个对照家系),分析意外伤害及事故倾性的家族聚集性。结果:病例组有36.4%核心家系至少有一名成员发生过伤害,高于对照组9.0%,差异有统计学意义。病例组的父、母、同胞伤害发生率均高于对照组(差异有显著性)。但病例组与对照组一级亲属的事故倾性发生率无显著性差异。多因素Logistic回归分析发现,父、母、同胞发生伤害都是儿童事故倾性的危险因素,儿童喜欢冒险、不能集中精力也和事故倾性有关联。结论:意外伤害存在家族聚集性,遗传因素可能在其中发挥一定作用。没有发现事故倾性具有家族聚集性。