Familial partial trisomy 5p resulting from segregation of an insertional translocation

A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.     

集训新兵躯体化症状特点及其相关因素分析

目的：探讨集训新兵躯体化症状特点及其相关因素。方法：用成人EPQ和症状自评量表（SCL-90）在集训过程中对1432名新兵进行了躯体化症状和个性评定。结果：集训第一个月末新兵躯体化症状的检出率最高（12.25％），集训第二个月末为9.81％，集训前为8.66％。逐步回归分析表明，影响躯体化症状的主要因素依次为情绪不稳、有过受伤史、缺少体育锻炼、非主动要求参军等。结论：集训期间躯体化症状呈非线性下降趋势，集训前躯体化症状受多种因素影响。     

Accessibility, clinical effectiveness, and practice costs of providing a telephone option for routine asthma reviews: phase IV controlled implementation study.

BACKGROUND: Attendance for routine asthma reviews is poor. A recent randomised controlled trial found that telephone consultations can cost-effectively and safely enhance asthma review rates; however, concerns have been expressed about the generalisability and implementation of the trial's findings. AIM: To evaluate the effectiveness of a telephone option as part of a routine structured asthma review service. DESIGN OF STUDY: Phase IV controlled before-and-after implementation study. SETTING: A large UK general practice. METHOD: Using existing administrative groups, all patients with active asthma (n = 1809) received one of three asthma review services: structured recall with a telephone-option for reviews versus structured recall with face-to-face-only reviews, or usual-care (to assess secular trends). Main outcome measures were: proportion of patients with active asthma reviewed within the previous 15 months (Quality and Outcomes Framework target), mode of review, enablement, morbidity, and costs to the practice. RESULTS: A routine asthma review was provided for 397/598 (66.4%) patients in the telephone-option group compared with 352/654 (53.8%) in the face-to-face-only review group: risk difference 12.6% (95% confidence interval [CI] = 7.2 to 17.9, P<0.001). The usual-care group achieved a review rate of 282/557 (50.6%). Morbidity was equivalent in the three groups; however, enablement (P = 0.03) and confidence (P = 0.007) in asthma management were greater in the telephone-option versus face-to-face-only group. The cost per review achieved by providing the telephone-option service was lower than the face-to-face-only service (10.03 pounds versus 12.74 pounds, mean difference 2.71 pounds; 95% CI = 1.92 to 3.50, P<0.001); usual-care costs were 11.85 pounds per review achieved. CONCLUSION: Routinely offering telephone reviews cost-effectively increased asthma review rates, enhancing patient enablement and confidence with management, with no detriment to asthma morbidity. Practices should consider a telephone option for their asthma review service.     

Age, gender and litter-related variation in T-lymphocyte cytokine production in young pigs

The capacity of farm animals to produce cytokines could be an important determinant of robustness and health. From research in rodents and humans it appears that the production and the balance of T helper 1 (Th1) and T helper 2 (Th2)-type cytokines influences susceptibility to autoimmune and infectious diseases. It is known that pigs show a large variation in many immune response parameters. So far the extent of individual variation in the production of Th1- and Th2-type cytokines in commercial outbred pigs has not been reported. In the current experiment we determined mRNA expression, as well as protein production of cytokines in 32 pigs from eight litters. From each litter two male and two female pigs were tested at 2, 5 and 8 weeks of age. Two Th1-type cytokines, interleukin (IL)-2 and interferon (IFN)-gamma, and two Th2-type cytokines, IL-4 and IL-10, were measured after phytohaemagglutinin (PHA)-stimulation of blood mononuclear cells. Cytokine production and the Th1/Th2-ratio were highly variable. The variation in cytokine protein production was moderately consistent across ages, i.e. pigs that produced high levels of cytokine at 2 weeks of age tended to do so as well at 5 and 8 weeks of age. Cytokine production tended to increase with age, and gilts and boars differed in their IL-2/IL-4 ratio. Unexpectedly, age, gender and litter effects often differed for mRNA and protein production data. We hypothesize that cytokine production is a consistent trait in pigs, especially at the protein production level. Future investigations in more animals and across a wider age range are necessary.     

人肿瘤细胞与正常细胞内微管的PAP免疫酶细胞化学观察

我们利用兔抗微管蛋白抗体和兔抗辣根过氧化物酶(HRP)抗血清制备的HRP—抗HRP(PAP)复合物,建立了微管的PAP免疫酶细胞化学方法。应用此法观察到人食管癌ECa 109、胃癌SGC 7901,乳腺癌MCF 7和成骨肉瘤OS 732细胞间期胞质微管减少或消失,只有大量弥散分布的微管蛋白棕色反应产物,在微管组织中心(MTOC)附近十分密集,而正常成纤维细胞和胎儿胃粘膜上皮细胞间期,都有发达的胞质微管结构(CMTC)。在分裂期,这些肿瘤细胞都显示纺锤体微管,与正常细胞比较无明显差异。本研究应用PAP方法进一步证明,以前用免疫荧光细胞化学方法观察到的人肿瘤细胞间期胞质微管缺陷的特征。除去低温(4℃)或秋水仙酰胺处理后,解聚的CMTC又可恢复,表明本方法与免疫荧光染色法,同样具有很高的特异性。本工作在细胞固定及免疫反应的某些步骤上有所改进。     

Neuropsychological functions,sleep, and mental health in adults with Klinefelter syndrome

A few studies have examined neuropsychological functions, sleep, and mental health combined in Klinefelter syndrome (KS; 47,XXY). We investigated neuropsychological functions with standard tests, sleep with actigraphy, and self‐reported mental health in 30 men with KS (Mean age = 36.7 years) compared to 21 controls (Mean age = 36.8 years). Men with KS scored significantly lower on mental speed, attention span, working memory, inhibition, and set‐shifting tests, as well as overall IQ (mean effect size difference Cohen's d = 0.79). Men with KS had significantly longer night wakes, with no differences in other sleep variables (mean d = 0.34). Men with KS reported poorer mental health than controls (mean d = 1.16). Regression analyses showed neuropsychological functions explained variance in some sleep domains for men with KS but not for controls. Neuropsychological functions explained variance in some mental health domains for controls. For men with KS, however, verbal IQ was the only significant predictor of mental health. Altogether, men with KS display problems in neuropsychological functions and mental health but do not appear different from controls on most sleep parameters. Our findings indicate that relations between neuropsychological functions, sleep, and mental health differ between men with KS and controls.     

Interstitial deletion of band q12 of chromosome 5

A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.
The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.     

Trisomy 6qter

A previously reported patient with trisomy for the distal part of 6q was shown by R-banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp-shaped mouth; micrognathia; a very short neck with unusual anterior webbing; joint contractures; the absence of severe inner organ malformations; and survival into adulthood.     

Predictors of sunbathing and sunscreen use in college undergraduates

Sunbathing and sunscreen use, as well as related intentions, attitudes, beliefs, and knowledge, were assessed in 90 Southern Appalachian undergraduates. A large majority (75%) reported sunbathing, with more than half reporting sun lamp use. A slight majority (56.7%) reported some use of sunscreen. Subjects reporting an intention to tan spent more time sunbathing, both outside and under a sun lamp. Individuals reporting a sun protection intention had lighter tans and spent less time sunbathing. Sunbathing was predicted by perceptions of sunbathing as relaxing, while sun lamp use was predicted by more positive views of suntatns. Sunscreen use was predicted by more positive sun protection attitudes and less negative sunscreen attitudes.     

Clinical aspects of the MASA syndrome in a large family, including expressing females

We have evaluated, both clinically and by linkage analysis, a large family with 22 known affected males with the MASA syndrome (McKusick 303300). Clinical findings varied widely amongst the affected family members, with some appearing initially to have the MASA syndrome and others to have X-linked hydrocephalus (HSAS) (McKusick 307000). Important findings included the presence of adducted thumbs in two obligate carriers, learning problems or mild mental retardation in three females, two of whom were obligate carriers, and hydrocephalus with neonatal death in three females born to obligate carriers. X-inactivation analysis in lymphocytes from the two women with adducted thumbs revealed preferential inactivation of one X chromosome, suggesting that nonrandom X-inactivation may be responsible for clinical expression in females. The presence of HSAS in some individuals of this family and the MASA syndrome in others further supports the hypothesis that these two conditions are the result of a mutation in the same gene.