DNA testing for fragile X syndrome in schools for learning difficulties

Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals but also to identify carriers who are unaware of their high risk of having an affected child. The disorder is associated with a cytogenetically visible fragile site (FRAXA) at Xq27.3, caused by amplification of a (CGG)n repeat sequence within the gene at this locus designated FMR1. Clinical and molecular studies have been undertaken to screen for fragile X syndrome in 154 children with moderate and severe learning difficulties of previously unknown origin. Southern blot analysis of peripheral blood showed the characteristic abnormally large (CGG)n repeat sequence associated with fragile X syndrome in four of the 154 children. The findings were confirmed by cytogenetic observation of the fragile site and by further molecular studies. The families of the affected children were offered genetic counselling and DNA tests to determine their carrier status. These findings show that there are still unrecognised cases of fragile X syndrome. Given the difficulty of making a clinical diagnosis and the implications for families when the diagnosis is missed, screening in high risk populations may be justified. The issues involved in screening all children in special schools for fragile X syndrome are discussed.     

Does age at the start of breast feeding influence infantile diarrhoea morbidity? A case–control study in periurban Guinea–Bissau

Colostrum protects the newborn from intestinal infection by its content of secretory immunoglobulin A and other immediately acting factors. It may also induce maturation of the child's gastrointestinal immune defences, thus contributing to the protection against diarrhoeal disease later in infancy. To test this hypothesis, a case–control study on breast feeding and diarrhoea was carried out in a periurban community in Guinea–Bissau. The child's age at the start of breast feeding was ascertained soon after birth ( n = 279). Subsequent cases of acute diarrhoea ( n = 66) were identified at 3–monthly examinations, and four concurrent controls were randomly selected among attendants. Three separate estimates of association showed that the cases tended to have started breast feeding later after birth than the diarrhoea–free controls, but no single test was statistically significant. Early breast feeding might have consequences for diarrhoeal morbidity after the neonatal period.     

Adaptive loss of ultraviolet-sensitive/violet-sensitive (UVS/VS) cone opsin in the blind mole rat (Spalax ehrenbergi)

In previous studies, fully functional rod and long-wavelength-sensitive (LWS) cone photopigments have been isolated from the eye of the subterranean blind mole rat (Spalax ehrenbergi superspecies). Spalax possesses subcutaneous atrophied eyes and lacks any ability to respond to visual images. By contrast this animal retains the ability to entrain circadian rhythms of locomotor behaviour to environmental light cues. As this is the only known function of the eye, the rod and LWS photopigments are thought to mediate this response. Most mammals are dichromats possessing, in addition to a single rod photopigment, two classes of cone photopigment, LWS and ultraviolet-sensitive/violet-sensitive (UVS/VS) with differing spectral sensitivities which mediate colour vision. In this paper we explore whether Spalax is a dichromat and has the potential to use colour discrimination for photoentrainment. Using immunocytochemistry and molecular approaches we demonstrate that Spalax is a LWS monochromat. Spalax lacks a functional UVS/VS cone photopigment due to the accumulation of several deleterious mutational changes that have rendered the gene nonfunctional. Using phylogenetic analysis we show that the loss of this class of photoreceptor is likely to have arisen from the visual ecology of this species, and is not an artefact of having an ancestor which lacked a functional UVS/VS cone photopigment. We conclude that colour discrimination is not a prerequisite for photoentrainment in this species.     

胸腹部联合损伤73例诊治分析

1临床资料 1995-07／2003-12收治胸腹联合伤73（男52，女21）例，年龄3～72（平均47）岁，急诊入院69例，受伤至急诊入院时间为1／3～16h，致伤原因：穿透伤26例，其中刀刺伤23例，枪伤3例，闭合伤47例，其中车祸38例，坠落伤9例，入院时伴休克50例，呼吸急促36例，胸痛29例，腹痛20例，胸腹联合痛14例，昏迷10例，气管移位11例，伤侧呼吸音减弱或消失17例。     

Radiology curriculum for medical students: Clinicians’ perspectives

This study was conducted to establish clinicians’ perspectives of a set of radiology curriculum topics for medical student teaching, which were held to be important by radiologists. A questionnaire was sent to clinicians in all specialties. Forty‐six clinicians (51.1%) out of 90 returned the questionnaires. All curriculum topics were scored above an average of 4 (agree). The five highest ranking curriculum topics in order of importance were: developing a system for viewing chest radiographs (5.59), developing a system for viewing abdominal radiographs (5.56), developing a system for viewing bone and joint radiographs (5.33), distinguishing normal structures from abnormal in chest and abdominal radiographs (5.33) and identifying gross bone or joint abnormalities in skeletal radiographs (5.22). Correlative analysis between speciality groups showed surgical and medical specialities were significantly different in their responses of two learning outcomes: basic knowledge about the contrast media benefits and risks (P= 0.01) and ability to select the most appropriate and the most cost‐effective methods of radiological investigations for clinical situations (P= 0.03). Acute specialities were not significantly different from the other two groups for these two learning outcomes. There was no statistically significant difference for other learning outcomes between the three speciality groups.     

Is there a role for Notch signalling in human breast cancer?

Aberrant Notch signalling has been observed in several human cancers, including acute T-cell lymphoblastic leukaemia and cervical cancer, and is strongly implicated in tumourigenesis. Unregulated Notch signalling in the mouse mammary gland leads to tumour formation. These results raise the possibility that Notch signalling might play a role in human breast cancer. There are currently few reports that address this question directly and this appears to be an area worthy of further investigation.     

医院感染耐亚胺培南铜绿假单胞菌与oprD_2基因相关的ERIC分型研究

目的 探究耐亚胺培南铜绿假单胞菌(IRPA)的oprD2基因缺失在天津地区3所三甲医院内的分布以及该菌的克隆流行情况.方法 采用聚合酶链反应(PCR)方法检测60株IRPA的oprD2基因缺失情况,并以基于肠杆菌科基因间重复一致序列PCR(ERIC-PCR)方法对其中的54株进行分子生物学分型.结果 60株IRPA中有38株oprD2基因缺失.且3所医院的oprD2基因缺失率差异无统计学意义(P＞0.05),54株IRPA用ERICPCR方法分为30型.结论 IRPA的oprD2基因缺失在天津地区的分布差异无统计学意义,且提示尚有其他原因造成亚胺堵南/西司他丁耐药株流行;个别科室内的IRPA存在克隆流行趋势,应注意监控IRPA在医院内的暴发流行.