Adult hereditary fructose intolerance

Hereditary fructose intolerance （HFI） is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting,abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to Ⅳ fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.     

《膝关节外科学》出版

由我国著名关节外科专家吕厚山教授等编写的《膝关节外科学》一书已由人民卫生出版社出版发行。本书由九章构成,从解剖到生物力学,从创伤到肿瘤,从先天性遗传疾病到各种关节炎,从骨科检查法到放射影像学,从超声到核医学,对膝关节及其各种疾病做了全面的介绍。特别是若干章节详尽的讲述了关节镜和人工关节在创伤、骨肿瘤和各种关节炎治疗方面的应用,以及骨与软骨的组织工程和半月板移植等方面的技术,具有先进知识介绍和临床技术指导的两重意义。     

基因科技造福人类健康——专访浙江大学医学院附属第一医院遗传与基因组医学中心主任祁鸣教授

近年来随着人们对遗传疾病发病机制认识的加深,基因诊断技术开始在国外应用起来,并逐渐成熟和完善。人类基因与疾病的深入研究正推动着医学领域里的一场革命,基因检测在欧美已经发展成为年产数百亿产值的新兴产业,基因检测为疾病的有效防治、增进大众健康以及生物医药的发展带来了新的机遇。十二月的北京天气微寒、光和日丽,祁鸣教授在人类基因变异组计划（HVP）北京工作会议间隙接受了本刊记者的专访。     

《膝关节外科学》出版

由我国著名关节外科专家吕厚山教授等编写的《膝关节外科学》一书已由人民卫生出版社出版发行。本书由九章构成,从解剖到生物力学,从创伤到肿瘤,从先天性遗传疾病到各种关节炎,从骨科检查法到放射影像学,从超声到核医学,对膝关节及其各种疾病做了全面的介绍。特别是若干章节详尽的讲述了关节镜和人工关节在创伤、骨肿瘤和各种关节炎治疗方面的应用,以及骨与棼常的组织工程和半月板移植等方面的技术,具有先进知识介绍和临床技术指导的两重意义。     

《膝关节外科学》出版

由我国著名关节外科专家吕厚山教授等编写的《膝关节外科学》一书已由人民卫生出版社出版发行。本书由九章构成,从解剖到生物力学,从创伤到肿瘤,从先天性遗传疾病到各种关节炎,从骨科检查法到放射影像学,从超声到核医学,对膝关节     

Clinical characteristics and gene mutation analysis of methylmalonic aciduria

Methylmalonic aciduria（MMA） is a common inherited autosomal recessive disorder resulting from defects in the enzyme methylmalonyl CoA mutase（MCM,mut complementation group） or in the synthesis of the MCM cofactor adenosylcobalamin（cbl complementation groups）.The defects in the mut complementation group accounts for the largest number of patients with isolated MMA.At least 200 mutations in the MUT gene on chromosome 6p12 have been identified in MMA patients until now.This study aimed to investigate the clinical characteristics of MMA and genomic variations in the MUT gene of Chinese patients.Genomic DNA was extracted from 18 patients who were diagnosed as having isolated MMA by gas chromatography/mass spectrometry（GC-MS）,and from some of their parents as well.Amplification and direct sequencing of the MUT coding regions（exon 2-13） and their adjacent intronic consensus splice sites were performed in order to identify the disease causing mutations.In this group,six novel mutations in the MUT gene,c.424A>G（p.T142A）,c.786T>G（p.S262R）,c.808G>C（p.G270R）,c.1323₁324insA,c.1445-1G>A and c.1676+77A>C were identified.p.T142A and p.G270R were respectively detected at a heterozygous level in one patient.Two previously reported mutations,c.682C>T（p.R228X） and c.323G>A（p.R108H） were also found in this study.In addition,six previously described single nucleotide polymorphism（SNP）,c.636A>G（p.K212K）,c.1495G>A（p.A499T）,c.1595A>G（p.H532R）,c.1992G>A（p.A664A）,c.2011G>A（p.V671I） and c.1677-53A>G were identified.In this study,we updated the spectrum of MUT mutations and identified the main MMA-causing mutations in Chinese MMA patients.     

多房型囊性肾细胞癌

患者男，50岁。2年前体检发现右肾囊肿，约70mm大小，近期囊肿增大，住院诊治。发病以来无腰背酸痛，无肉眼血尿，否认家中有遗传疾病，亦无血透史。患者发痛营养良好，心肺（-），腹平坦，     

广西地区1783例遗传疾病咨询者的染色体分析

目的：探讨染色体核型与遗传疾病的关系。方法：采集1783例遗传疾病咨询者的外周血，对其外周血淋巴细胞行培养制片，胰酶消化，作G带显色分析，对异常核型行电脑摄像及染色体分析。结果：染色体G带显色分析表明异常核型232例，为受检人数的13．0％，其中常染色体数目、结构异常145例，占62．5％，性染色体数目、结构异常87例，占37．5％。结论：染色体数目、结构出现核型异常与常见的染色体疾病有直接的关系。     

Apert综合征矫治一例

患儿，男，6岁，因主诉“特殊面容及手足并指(趾)影响美观和功能6年”，于2004年2月28日入院，要求行双手并指分指术。患儿父母非近亲婚配，否认有类似家族史。入院查体：发音吐字不清，轻度智力缺陷。头颅前后扁而高，形如塔状，额骨前突，双颞变宽，枕部平坦。眼前突，眼裂外下斜，眶距重度增宽，IOD值45mm，如图l(见中插5)。鼻梁塌陷，     

结节性硬化症1例

1 临床资料 患儿,男,12岁。因阵发性四肢痉挛10余年,加重二月入院。患儿2岁左右时无明显诱因出现四肢痉挛,表现为阵发性头及躯干急骤前屈,上肢伸直,然后屈曲内收,下肢屈曲。每次发作时间在5～6s左右后自行缓解,每月发作数次。在当地医院以“癫痫”治疗,口服“鲁米那”。其间在8～10岁左右,发作次数有所减少。近二个月来,患儿上述症状明显加重,持续时间明显延长,约1～2 min左右,发作时有短暂的意识丧失。既往史:第1胎第1产,足月顺产,无窒息抢救史,否认乙肝、结核、手术外伤等病史。2岁时面部出现皮疹,一直以“湿疹”治疗。父母非近亲结婚,其兄弟姐妹无类似病史。查体:T36.5℃,体重25kg,发育正常,营养中等,神志清楚,智力大致正常,在鼻的两侧面颊部可见多个突出平面约0、1cm～0.2