New evidence for,and challenges in,linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

We recently reported a significant increase in the frequency of carriers of grey zone (GZ) alleles of FMR1 gene in Australian males with Parkinson's disease (PD) from Victoria and Tasmania. Here, we report data comparing an independent sample of 817 PD patients from Queensland to 1078 consecutive Australian male newborns from Victoria. We confirmed the earlier finding by observing a significant excess of GZ alleles in PD (4.8%) compared to controls (1.5%). Although both studies provided evidence in support of an association between GZ‐carrier status and increased risk for parkinsonism, the existing evidence in the literature from screening studies remains equivocal and we discuss the need for alternative approaches to resolve the issue.     

Immunohistochemical localization of relaxin, prolactin and prostaglandin synthase in human amnion, chorion and decidua

Relaxin, prolactin and prostaglandin synthase were localized by the avidin-biotin immunoglucose oxidase method in human amnion, chorion and decidua. Specimens from ten normal spontaneous deliveries and four elective Caesarean section deliveries with no labour were compared. Relaxin was found more consistently in the cells of the chorionic cytotrophoblast than in the cells of the parietal decidua adherent to the fetal membranes. Only half the tissues after spontaneous delivery contained positive relaxin-stained cells, whereas all the tissues from elective Caesarean sections contained cells positively stained with antiserum to relaxin. In both series of tissues prolactin was localized predominantly in the parietal decidual cells and was very infrequently found in the chorionic cytotrophoblast. Polyclonal antiserum to prostaglandin synthase was used to identify those cells producing prostaglandin in amnion, chorion and decidua. The cells of the amnion and chorion showed positive immunolocalization with no differences between tissues collected before or after labour. Double immunostaining using avidin-biotin immunoperoxidase for prolactin, followed by avidin-biotin immunoglucose oxidase for prostaglandin synthase, produced identical results in the same series of tissues examined with the single-staining method.     

Returning to work with aphasia: A case study

Background: For some people with aphasia, returning to work will be their eventual goal. While there are reports in the literature of incidence of return to work, and general discussion of success, there are few documented in depth studies of what this might entail for the individual with aphasia.

Aims: This paper explores returning to work with aphasia, and examines the complex relationship between the person, the aphasia and the demands of employment.

Methods & Procedures: This is a detailed case report, describing and reflecting on the experiences of GD, who returned to work following his stroke and aphasia. Therapy focused specifically on work requirements is described and the factors affecting GD's return to work explored. An interview was used to elicit GD's reflections on his experiences.

Outcome & Results: GD's language skills improved over time and with therapy, and he developed several strategies that facilitated his communication. He was able to return to work (part-time) in a modified role and this was successful initially. After an extended period (～19 months) his employment was terminated and GD explored other options. He moved on to a volunteering and charity trustee role.

Conclusions: The success (or not) of returning to work with aphasia is multi-faceted and does not rest solely with the person with aphasia. The nature of the work may have a strong bearing on success, as will the ability and willingness of the employer to engage in the process. Partnership with the person and constant review of goals and management is of overwhelming importance. We need to consider what “success” may mean in this context and the need to consider therapeutic and rehabilitation needs over a longer time frame.     

Detection of anti-HTLV-I Tax antibodies in HTLV-I enzyme-linked immunosorbent assay-negative individuals

The HTLV-I tax gene protein (Tax) is not packaged within the mature viral particle from which the proteins for the commercially available enzyme-linked immunosorbent assay (ELISA) are derived. Screening of 162 individuals within a cohort of white intravenous (IV) drug abusers, previously identified as having an increased incidence of HTLV-I infection, demonstrated that seven of them had antibodies to the HTLV-I Tax protein but tested negative in HTLV-I ELISAs and Western blots prepared from purified virion proteins. Three out of 35 individuals in other behaviorally defined high-risk groups also displayed this limited pattern of reactivity to HTLV-I proteins. The presence of the anti-HTLV- I p40/Tax antibodies was determined by radioimmunoprecipitation assay (RIPA), which also revealed low levels of anti-env reactivity. The specificity of the anti-p40 reactivity was confirmed on specific Tax ELISAs and Western blots prepared from recombinantly produced Tax. In vitro gene amplification by the polymerase chain reaction (PCR) was used to establish the presence of sequences homologous to HTLV-I proviral DNA in four/four of these HTLV-I ELISA negative, Tax ELISA/Tax western blot/RIPA positive individuals. These data suggest that the true incidence of HTLV-I infection within high-risk cohorts is greater than previously reported.     

The Werner's Syndrome RecQ Helicase/Exonuclease at the Nexus of Cancer and Aging

Werner''s Syndrome (WS) or adult-onset progeria is an autosomal recessive disorder of accelerated aging caused by mutations of the DNA RecQ helicase/exonuclease (WRN). WRN is an ATP-dependent helicase with 3′ to 5′ DNA exonuclease activity that regulates the replicative potential of dividing cells, and WRN loss-of-function mutations promote cellular senescence and neoplastic transformation. These molecular findings translate clinically into adult-onset progeria manifested by premature hair graying, dermal atrophy, cardiovascular disease, and cancer predilection along with a markedly reduced life expectancy. Recently, a patient with WS who developed pancreatic adenocarcinoma was identified in Honolulu suggesting a significant prevalence of loss-of-function WRN mutations in Hawai‘i''s Japanese-American population. Based upon the indigenous Japanese WRN loss-of-function mutation heterozygote rate of 6 per 1,000, we speculate the possibility of approximately 1,200 heterozygotes in Hawai‘i. Our ongoing studies aim to evaluate Hawai‘i''s true allelic prevalence of WRN loss-of-function mutations in the Japanese-American population, and the role of WRN silencing in sporadic cancers. In summary, WRN plays a nexus-like role in the complex interplay of cellular events that regulate aging, and analysis of WRN polymorphisms in Hawai‘i''s population will generate novel insights to advance care for age-related pathologies.     

颅内动脉瘤栓塞后并发脑缺血的原因分析

1 临床资料我们总结2004-02/2004-06在第四军医大学唐都医院神经外科住院行栓塞治疗颅内动脉瘤患者27(男12,女15)例,年龄32～72岁.     

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。     

Desmoplastic fibroma of the proximal ulna

A young man presented with desmoplastic fibroma in the proximal ulna. This rare tumour was treated by curettage and bone grafting.     

Serum levels of CD14 in neonatal sepsis by Gram-positive and Gram-negative bacteria

The purpose of this study is to measure soluble CD14 (sCD14) levels in sera from newborn with sepsis, to compare it with other markers, and to study its evolution in Gram-negative and Gram-positive sepsis. Forty normal newborns were included (26 were full term and 14 were preterm infants), 20 babies had a positive blood culture (11 Gram-positive and 9 Gram-negative) and 16 cases were suspected of having sepsis based on clinical and laboratory findings, but a negative blood culture. Interleukin-6 (IL-6), sCD14, and tumour necrosis factor-α (TNFα) were measured by enzyme immunoassay, and fibronectin (FN) and C-reactive protein (CRP) by radial immunodiffusion. Neonates with a positive blood culture had increased levels of sCD14(3.20 ± 1.26μgml^-1, p < 0.001), CRP(69 ± 46 μgml^-1, p < 0.001)and IL-6 (134 ± 150 pg ml^-1, p < 0.001), and decreased values of FN (12.3 ± 6.6 mg ml^-1, p < 0.001). TNFα levels were also high (160 ± 37 pg ml^-1), but this increase was not statistically significant. Newborn infants suspected of having sepsis but a negative blood culture had similar but milder abnormalities. Soluble CD 14 levels correlated with CRP values; however, there was no correlation between sCD 14, TNFα and IL-6. Neonates with sepsis by Gram-positive bacteria had lower sCD14 levels than patients with Gram-negative sepsis (2.63 ± 1.2 versus 4.04 ± 1.0μgml^-1, p < 0.05). In conclusion, the sCD14 level is increased in newborn infants with sepsis, and this is higher in infections by Gram-negative bacteria, suggesting a different contribution of monocyte and macrophage cells. In contrast, IL-6, TNFα, CRP and FN values are similar in infections by Gram-positive and Gram-negative bacteria.