Infertility Management in Men with Cystic Fibrosis

Cystic fibrosis （CF） is a multisystem autosomal recessive disorder. CF has a reported incidence of 1 in 2 500 and a carrier frequency of 1 in 25. It is caused by mutations in a gene located on the long arm of chromosome 7. With almost 50% of patients with CF now in the adult population, and a very high interest in future parenting （78% of men wanting children）, there is an increasing need to be proactive in terms of advice about reproductive health. Discussion on reproduction should start in early adolescence and be regularly updated by medical staff. The recent advances in reproductive techniques have allowed the development of sperm aspiration coupled with intra-cytoplasmic sperm injection （ICSI）. Spermatozoa can be retrieved from either the epididymis or the testes. Genetic counselling is strongly recommended for both partners when congenital bilateral aplasia of vas deferens （CBAVD） is diagnosed as there is the inevitability of transmitting a mutated CFTR gene, and an increased risk of producing an affected child with serious long-term implications. Most treatment centres, with the introduction of ICSI, routinely screen all males with azoospermia caused by obstruction （other than that caused by vasectomy） or germ cell failure. Protocols usually involve screening for 28 relatively common CFTR mutations. Further advanced testing may be necessary up to a final detection level of approximately 98.5%. Before considering any assisted reproduction treatment, it is pertinent that CF patients receive medical and psychological counselling.     

Primary shunt hyperbilirubinaemia in a large four-generation family confirming autosomal dominant genetic disorder

AIM: To describe the pattern of inheritance and confirm the diagnostic criteria of primary shunt hyperbilirubinaemia (PSH). METHODS: Forty members of a family pedigree across four generations were included in this study. All family members were interviewed and investigated by physical examination, hematology and liver function test and the pattern of inheritance was analyzed. RESULTS: Nine of the forty family members suffered primary shunt hyperbilirubinaemia. The mature erythrocytes of the propositus were irregular in shape and size. The pedigree showed transmission of the trait through four generations with equal distribution in male and female. No individual with a primary shunt hyperbilirubinaemia was born to unaffected parents. The penetrance was complete in adult. CONCLUSION: The pattern of inheritance is autosomal dominant. The abnormality of erythrocytes and decrease in white blood cell could be supplemented in the diagnosis of PSH. The PSH is a genetic disorder and could by renamed as hereditary shunt hyperbilirubinaemia.     

先天性干扰素免疫缺陷致遗传性分枝杆菌易感综合征的机制研究

遗传性分枝杆菌易感综合征(Mendelian susceptibility to mycobacterial disease, MSMD)是一种罕见的先天性疾病,其特征是选择性易感弱毒性分枝杆菌,如卡介苗(BCG Vaccine)和环境分枝杆菌。γ-干扰素(interferon-γ, IFN-γ)在细菌免疫防御机制中至关重要,先天性IFN-γ免疫缺陷是MSMD重要的发病机制。从1996年开始,先后发现了18个与MSMD相关的致病基因,绝大多数基因突变可以引起先天性IFN-γ免疫缺陷。本文将对遗传性分枝杆菌易感综合征的致病基因及其引起分枝杆菌感染的机制进行系统综述。     

痣样基底细胞癌综合征1例

痣样基底细胞癌综合征（Naevoid basal cell carcinoma sydrome,NBCCS）又称Gorlin-Goltz综合征,在人群中的发病率为1/56000,男女比为3∶1,临床上罕见[1]。该综合征为常染色体显性遗传疾病     

胚胎干细胞可在遗传性血液紊乱中输送“优质基因”

据Eckardt S 2011年1月10日(J Clin Invest,2001 Jan 10.pii:45377.doi:10.1172/JCI45377.[Epub ahead of print])报道,利用生殖细胞产生胚胎干细胞,可解决遗传疾病的问题,该方法与无需基因组工程的典型基因治疗方法不同。美国全国儿童医院研究所研究人员公布了一份基因治疗方案,改善鼠实验中的遗传性血液紊乱——β-地中海贫血,基因改善是使用鼠的未受精卵制造胚胎干细胞系。这些干细胞系没有遗传疾病基因,可用于小鼠的移植治疗。对于治疗常染色体显性遗传     

《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。     

钙黏素超家族的研究进展

钙黏素是一类介导Ca~(2 )依赖的细胞间黏附的跨膜糖蛋白,主要参与同型细胞间的黏附作用,可与质膜下细胞骨架系统相结合或与信号传导系统相联系,直接或间接影响细胞的活动,参与很多生物学过程,包括细胞识别、细胞骨架排列、细胞增殖、分化、细胞黏附、细胞迁移以及信号传导等。在调节胚胎发育、机体形态发生等方面具有重要作用。钙黏素家族成员的异常表达可能与多种遗传疾病相关。     

抑癌基因LKB1与Peutz-Jeghers综合征的研究进展

黑斑息肉综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性遗传性疾病,以皮肤黏膜存在黑色素斑点、消化道多发性息肉和非消化道存在多发性息肉为特征.早期研究认为该病息肉癌变的可能性不大,但是随着对其研究的增多,人们发现不仅PJS 患者消化道息肉的癌变风险率较高,而且PJS患者还常常伴发生殖系统和其他许多器官的良性或恶性肿瘤.临床上PJS 主要表现为胃肠道多发性息肉,腹部症状以反复肠套叠、消化道出血和阵发性腹痛为主[1],PJS息肉可发生在胃肠道任何部分,以空肠和回肠为主,其次是结肠和胃.1998年Jenne和Hemminki等研究发现了PJS的发生与19号染色体短臂(19p13.3)的肿瘤抑癌基因LKB1(又名LKB1/STK11,即丝氨酸-苏氨酸激酶11,serine/threonine kinase)有关,突变以移码突变和无义突变为主[2].     

Carole's Ⅱ型1例报道

Carole＇s病又称交通性海绵状肝内胆管扩张或先天性肝内胆管扩张征，该病1958年由法国医生Caroli和Couinaud首先描述其临床特征故称Carole＇s病。Carole＇s病确切的病冈尚未完全明了，大部分学者认为其为胚胎发育过程中胆管发育异常所至，也有学者认为是常染色体隐性遗传疾病。该病又分为两型，单纯型和硬化型，我们最近发现1例病例，CT表现符合Carole＇s Ⅱ的诊断，经肝穿刺病理证实，现报道如下。     

优生优育话健康

优生优育学是一门从人的智力和身体素质两个方面改善人的遗传素质，防止有遗传疾病的个体出生，促使智力发达、身体健康的个体繁衍，积极预防和治疗包括遗传缺陷的各种疾病，以帮助人的机体能适应环境而生存，提高教育水平，挖掘人的智能上的潜在能力，促进民族繁衍昌盛的综合性很强的科学。