In the western world a sharp rise in the incidence of inflammatory bowel disease (IBD) has been observedsince the early 1950s. The increase in the incidence of ulcerative colitis preceded the increase in the incidenceof Crohn's disease by about 10 - 15 years. In high incidence areas, a female preponderance at a young age isobserved in Crohn's disease, whereas in ulcerative colitis male incidence is still high at older ages. IBD ismore common in the western world than in eastern areas and, in both the United States and Europe, a north-south gradient has been reported, with IBD more common in the north than in the south. There are alsoindications that in typically low-incidence areas, more cases are being seen lately. Rates for Japan suggestthat this Asian population is now affected with approximately equal frequency as western populations withregard to ulcerative colitis; Crohn's disease in contrast is still less common. The prevalence of Crohn'sdisease in the Chinese populations in Hong Kong and Singapore appears to be increasing, and more cases havealso been observed lately in central China. This could be due to a greater awareness and better availability ofhealth care and/or improved study methods. However, it may also be a real increase, reflecting changingenvironmental factors. Both genetic factors and environment are thought tO be important in developing IBD,the observed increase during the past decennia is probably due to environmental factors since genetic make-upcannot change that quickly. Smoking is the only consistent risk factor in case-control studies, but does notseem to explain the observed changes in incidence and age and gender distribution in the two diseases,nutrition and life-style factors changed to a great extent during the period in which the rising incidence ofIBD has been reported. Following the temporal trends in these areas and using case-control settings in apopulation based manner during the coming years should prove to be of great interest, as this might shedsome light on the role of environmental factors in the etiology of IBD.

Subfertility can be caused by acquired or genetic factors. Y chromosome microdeletion is one of the genetic factors associating with male infertility.1 Azoospermia factors (AZFa, AZFb and AZFc) have been mapped to different subregions in Yq11.2 So far, two gene families, RNA-binding motif (RBM) and deleted in azoospermia (DAZ) from interval 6, were proposed as candidate spermatogenesis genes for AZF.3,4 Recent studies demonstrated that microdeletions were detected at a frequency of 5% to 18% in the AZF region of oligospermic and azoospermic men.5-7 With the development of assisted reproductive technologies, particularly intracytoplasmic sperm injection (ICSI), these men can now father a child and the genetic abnormalities in defective spermatozoa could be transmitted to future offspring. To examine the possible transmission of the Y-chromosome microdeletion to the offspring via ICSI treatment, we performed both cytogenetic and molecular analyses of the Y chromosome on both an infertile patient with Y chromosome microdeletion and his offspring.

炎症性肠病遗传因素的研究进展

炎症性肠病(IBD)包括溃疡性结肠炎(UC)和克罗恩病(CD),属慢性肠道非特异性炎性疾病.IBD病因不明,发病机制可能与遗传、环境及免疫等多种因素有关.

骨囊肿植骨后持续被动运动促进骨愈合的疗效观察

Background: Bony cyst is a kind of common benign bone disease, for which, cause is unclear. Multiple bony cyst is rare in clinic. It is supposed metabolic and genetic factors may be involved. People aged 5～ 15 years are commonly affected population (Female: Male 1:2).

1 SummaryThe 5-year-survival rates of surgically treated patients are varying and depend on UICC stages/substages with remarkable variations in between published reports, surgical hospital units, individual surgeons, and continents. These variations may be due to surgical techniques, training status, hospital and individual case volume, but also on referral patterns, and statistical evaluation methods. Survival time and cure rates are significantly improved by modern adjuvant chemotherapy in colon cancers UICC Ⅲ and in substages of UICC Ⅱ (e.g. UICC Ⅱ B) by 5%-16%, and adjuvant radiochemotherapy in rectal cancer by 10%-14% when compared to surgical controls. In three modern colon cancer trials standard adjuvant chemotherapy was further improved by increasing the survival rates, e.g. from 59% to 71% in stage Ⅲ and IIB patients. In rectal cancer neoadjuvant radio(chemo)therapy decreases local relapse rates vs. postoperative adjuvant radio(chemo)therapy. Since surgery in rectal cancer has also been significantly improved by total mesorectal excision (TME) and better surgical training, the indications and methods for multimodal therapy have changed from UICC Ⅱ+Ⅲ to more individual criteria. Molecular and genetic factors, such as thymidylate synthase (TS), microsatellite instability (MSI) or loss of chromosome 18q/DCC might have an independent impact on prognosis in the spontaneous course, but could also help to individually select colon and rectal cancer patients and treatment protocols for multimodal therapy. Thus, surgery and multimodal therapy has become very complex, needs regularly be updated in competent reviews, and should be conducted in specialized centers of multi-and interdisciplinary excellence.

Hemostatic genes in symptomatic and hidden forms of thrombotic complications in obstetrics