Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome

Marfan syndrome (MFS) is an autosomal dominant condition which may involve the cardiovascular, ocular, skeletal, and other systems. Mutations causing MFS are found in the FBN1 gene, encoding fibrillin-1, an extracellular matrix protein involved in microfibril formation. In the most severe cases, mutations are generally found in exons 24-32, and children with these mutations usually die in the first years of life, of cardiopulmonary failure. We present clinical, molecular and histopathological studies on a patient with severe early onset MFS. He has a mutation in exon 25 of FBN1, a G > A transition at nucleotide position 3131 that converts the codon TGC, coding for cysteine at position 1044, to TAC, coding for tyrosine (C1044Y). This has resulted in abnormalities of the extracellular matrix and a severe clinical phenotype, although he has survived to the age of 14 years. (c) 2005 Wiley-Liss, Inc.

Morbidity due to Schistosoma mansoni: an epidemiological assessment of distended abdomen syndrome in Ugandan school children with observations before and 1-year after anthelminthic chemotherapy

The objectives of this study were to determine the prevalence and distribution of distended abdomens among Ugandan school children across a range of eco-epidemiological settings and to investigate the relationship between distended abdomens and helminth infections, in particular Schistosoma mansoni, before and 1-year after anthelminthic treatment. A cross-sectional survey was conducted on 4354 school children across eight districts, with a longitudinal 1-year follow-up of 2644 children (60.7%). On both occasions, parasitological, biometrical and clinical data were collected for each child. Baseline prevalence of S. mansoni and hookworms was 44.3% and 51.8%, respectively. Distended abdomens, defined as an abdominal circumference ratio (ACR) >1.05, were observed in 2.5% of the sampled children, several of whom presented with particularly severe distensions necessitating hospital referral. ACR scores were highly overdispersed between districts and schools. Multivariate regression analysis revealed that S. mansoni infection accounted for only a small fraction of ACR variation, suggesting that either single point prevalence and intensity measures failed to reflect this more chronically evolved morbidity and/or that other interacting factors were involved, e.g. malnutrition and malaria. At 1-year follow-up, ACR scores showed an overall trend of regression towards the mean, potentially indicative of amelioration following chemotherapy, but geographic overdispersion still remained. © 2006 Royal Society of Tropical Medicine and Hygiene.

Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome:recommendations for clinical management

Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit.

Shared monocyte subset phenotypes in HIV-1 infection and in uninfected subjects with acute coronary syndrome.

The mechanisms responsible for increased cardiovascular risk associated with HIV-1 infection are incompletely defined. Using flow cytometry, in the present study, we examined activation phenotypes of monocyte subpopulations in patients with HIV-1 infection or acute coronary syndrome to find common cellular profiles. Nonclassic (CD14(+)CD16(++)) and intermediate (CD14(++)CD16(+)) monocytes are proportionally increased and express high levels of tissue factor and CD62P in HIV-1 infection. These proportions are related to viremia, T-cell activation, and plasma levels of IL-6. In vitro exposure of whole blood samples from uninfected control donors to lipopolysaccharide increased surface tissue factor expression on all monocyte subsets, but exposure to HIV-1 resulted in activation only of nonclassic monocytes. Remarkably, the profile of monocyte activation in uncontrolled HIV-1 disease mirrors that of acute coronary syndrome in uninfected persons. Therefore, drivers of immune activation and inflammation in HIV-1 disease may alter monocyte subpopulations and activation phenotype, contributing to a pro-atherothrombotic state that may drive cardiovascular risk in HIV-1 infection.

The impact of serum uric acid on the diagnostic of metabolic syndrome in apparently healthy Brazilian middle-aged men

Background: Hyperuricemia is related to Metabolic Syndrome (MetS) and cardiovascular diseases, but the use of serum uric acid (UA) to diagnose MetS is currently ignored in clinical practices. Objectives: To examine the impact of serum UA on the diagnostic of MetS and the relationship of serum UA with cardiometabolic risk factors in apparently healthy Brazilian middle-aged men residents in a city of Minas Gerais. Methods: In a cross-sectional analysis, 289 apparently healthy middle-aged men underwent anthropometric, clinical, sociodemographic and blood serum biochemical evaluation. By using receive operating curve the internal cutoff of serum UA was determined (5.25 mg/dL). Results: Subjects with two or more components of MetS exhibited higher serum UA as compared to those with one or none component. The inclusion of serum UA ≥ 5.25mg/dL as an additional component of MetS increased the occurrence of this syndrome by 13%. Subjects with UA ≥ 5.25mg/dL showed high prevalence for MetS and association with its components (central obesity, hypertriglyceridemia, dyslipidemia and hypertension) as well as atherogenic risk. Conclusions: Serum UA has an important impact on the diagnostic of MetS and is related to cardiometabolic risk factors in apparently healthy Brazilian middle-aged men. Its use in clinical practices could aggregate accuracy to diagnose MetS.

Burnout syndrome and alcohol consumption in prison employees

Objective: The aims of this study were to estimate the association between an at‑risk drinking pattern and sociodemographic variables, and to compare the mean scores of the factors associated with the Burnout Syndrome, according to the alcohol consumption pattern in staff members from two Brazilian prisons. Methods: A cross‑sectional study was developed with 339 participants (response rate = 63.8%). The instruments used were a sociodemographic questionnaire, the Alcohol Use Disorders Identification Test (AUDIT), and the Maslach Burnout Inventory – General Survey (MBI‑GS). Results: The participants’ average age was 40.2 (SD = 8.8) years, and 81.0% were male. Among 78.5% of participants (95%CI 74.1 – 82.8) reported consuming alcoholic beverages. The prevalence of at‑risk drinking behavior in the sample was 22.4% (95%CI 18.0 – 26.9), and of the Burnout Syndrome was 14.6% (95%CI 10.8 – 18.4). We observed a significant association between at‑risk drinking behavior with gender, higher risk for men (OR = 7.32, p < 0.001), smoking, increased risk for smokers (OR = 2.77, p < 0.001), and religious practice, showing lower risks for religion practitioners (OR = 0.364, p < 0.001). We noticed significantly higher mean scores (p < 0.001) of emotional exhaustion and cynicism, and lower scores of professional achievement among individuals who reported consuming alcoholic beverages. Conclusion: Men who smoke were more likely to develop an at‑risk drinking pattern, while religion is presented as a protective factor. Individuals who consume alcohol were more affected by the different factors of the Burnout Syndrome.

Quantitative electroencephalographic comodulation : an investigation of patterns in chronic fatigue syndrome

Introduction. This is a pilot study of quantitative electro-encephalographic (QEEG) comodulation analysis, which is used to assist in identifying regional brain differences in those people suffering from chronic fatigue syndrome (CFS) compared to a normative database. The QEEG comodulation analysis examines spatial-temporal cross-correlation of spectral estimates in the resting dominant frequency band. A pattern shown by Sterman and Kaiser (2001) and referred to as the anterior posterior dissociation (APD) discloses a significant reduction in shared functional modulation between frontal and centro-parietal areas of the cortex. This research attempts to examine whether this pattern is evident in CFS. Method. Eleven adult participants, diagnosed by a physician as having CFS, were involved in QEEG data collection. Nineteen-channel cap recordings were made in five conditions: eyes-closed baseline, eyes-open, reading task one, math computations task two, and a second eyes-closed baseline. Results. Four of the 11 participants showed an anterior posterior dissociation pattern for the eyes-closed resting dominant frequency. However, seven of the 11 participants did not show this pattern. Examination of the mean 8-12 Hz amplitudes across three cortical regions (frontal, central and parietal) indicated a trend of higher overall alpha levels in the parietal region in CFS patients who showed the APD pattern compared to those who did not have this pattern. All patients showing the pattern were free of medication, while 71% of those absent of the pattern were using antidepressant medications. Conclusions. Although the sample is small, it is suggested that this method of evaluating the disorder holds promise. The fact that this pattern was not consistently represented in the CFS sample could be explained by the possibility of subtypes of CFS, or perhaps co-morbid conditions. Further, the use of antidepressant medications may mask the pattern by altering the temporal characteristics of the EEG. The results of this pilot study indicate that further research is warranted to verify that the pattern holds across the wider population of CFS sufferers.

Evaluating equal employment opportunity and its impact on the increased participation of men and women in the transport industry

This paper seeks to identify the approaches undertaken in implementing equal employment opportunity in the transport industry in Australia and the links between these approaches and indicators of increased participation of women. This male dominated industry employs limited numbers of women with fewer numbers of women in management. The study analyses data from a unique set of equal opportunity progress reports from all organisations in the transport industry that are required to provide public reports under Australian legislation. The findings indicate a correlation between some approaches to equal opportunity and increased numbers of women in some areas. The study is equally remarkable for what it does not find. Despite widespread equal opportunity implementation across a broad number of employment measures there are limited measures that predict increases in the numbers of women in management or in non-traditional roles. This study differs from others in that it identifies issues specific to one industry and links organisational approach to equal opportunity with the employment status of both women and men.

Suicidal ideation, suicide attempts, and HIV infection

A cross-sectional study was performed to investigate the prevalence and predictors of suicidal ideation and past suicide attempt in an Australian sample of human imumunodeficiency virus (HIV)-positive and HIV-negative homosexual and bisexual men. Sixty-five HIV-negative and 164 HIV-positive men participated. A suicidal ideation score was derived from using five items selected from the Beck Depression Inventory and the General Health Questionnaire (28-item version). Lifetime and current prevalence rates of psychiatric disorder were evaluated with the Diagnostic Interview Schedule Version-III-R. The HIV-positive (Centers for Disease Control and Prevention [CDC] Stage IV) men (n=85) had significantly higher total suicidal ideation scores than the asymptomatic HIV-positive men (CDC Stage II/III) (n=79) and the HIV-negative men. High rates of past suicide attempt were detected in the HIV-negative (29%) and HIV-positive men (21%). Factors associated with suicidal ideation included being HIV-positive, the presence of current psychiatric disorder, higher neuroticism scores, external locus of control, and current unemployment. In the HIV-positive group analyzed separately, higher suicidal ideation was discriminated by the adjustment to HIV diagnosis (greater hopelessness and lower fighting spirit), disease factors (greater number of current acquired immunodeficiency syndrome [AIDS]-related conditions), and background variables (neuroticism). Significant predictors of a past attempted suicide were a positive lifetime history of psychiatric disorder (particularly depression diagnoses), a lifetime history of injection drug use, and a family history of suicide attempts. The findings indicate increased levels of suicidal ideation in symptomatic HIV-positive men and highlight the role that multiple psychosocial factors associated with suicidal ideation and attempted suicide play in this population.

Understanding the literacy difficulties of students with Asperger's syndrome in middle years' classrooms

Among the students in Australian classrooms who are experiencing learning difficulties are increasing numbers of children who have been diagnosed with Asperger's syndrome. Although the general cognitive and language abilities of these students are comparable with most of their peers, they experience significant difficulties with social communication, social interactions and social-emotional/behavioural functioning. Despite indications that there are features inherent in Asperger's syndrome that are likely to have a negative effect on the development of advanced literacy skills, studies to date have primarily focused on social-emotional/behavioural challenges. Without effective literacy skills, however, students' access to educational and career opportunities may be curtailed. This article reviews features of Asperger's syndrome that appear to have a negative impact upon the development of advanced literacy skills and suggests ways in which inclusive classroom teachers could support the development of their learners.

A qualitative study of the experience of oral cancer among Taiwanese men

The incidence and mortality of oral cancer in Taiwanese men have increased over the past decade, primarily associated with a surge in the popularity of betel quid chewing. The aim of this study was to examine the experience of six Taiwanese men with oral cancer, who were aged between 40 and 60 years, using a qualitative approach. The three major themes emerging from the data include: (i) understanding the cancer diagnosis; (ii) the challenges of cancer treatment; and (iii) adapting to difference. Increasing nurses' understanding of the experiential aspects of oral cancer in this population is required if nurses are to develop successful health promotion programmes and nursing interventions to meet these patients' needs.