New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome

We report the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome ( OMIM 309583). This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. Our findings contribute to a better delineation and expansion of the clinical spectrum of Snyder-Robinson syndrome, support the important role of the N-terminus in the function of the SMS protein, and provide further evidence for the importance of SMS activity in the development of intellectual processing and other aspects of human development.

Sociodemographic Correlates of Transitions from Alcohol Use to Disorders and Remission in the Sao Paulo Megacity Mental Health Survey, Brazil

Aims: To evaluate sociodemographic correlates associated with transitions from alcohol use to disorders and remission in a Brazilian population. Methods: Data are from a probabilistic, multi-stage clustered sample of adult household residents in the Sao Paulo Metropolitan Area. Alcohol use, regular use (at least 12 drinks/year), DSM-IV abuse and dependence and remission from alcohol use disorders (AUDs) were assessed with the World Mental Health version of the Composite International Diagnostic Interview. Age of onset (AOO) distributions of the cumulative lifetime probability of each alcohol use stage were prepared with data obtained from 5037 subjects. Correlates of transitions were obtained from a subsample of 2942 respondents, whose time-dependent sociodemographic data were available. Results: Lifetime prevalences were 85.8% for alcohol use, 56.2% for regular use, 10.6% for abuse and 3.6% for dependence; 73.4 and 58.8% of respondents with lifetime abuse and dependence, respectively, had remitted. The number of sociodemographic correlates decreased from alcohol use to disorders. All transitions across alcohol use stages up to abuse were consistently associated with male gender, younger cohorts and lower education. Importantly, low education was a correlate for developing AUD and not remitting from dependence. Early AOO of first alcohol use was associated with the transition of regular use to abuse. Conclusion: The present study demonstrates that specific correlates differently contribute throughout alcohol use trajectory in a Brazilian population. It also reinforces the need of preventive programs focused on early initiation of alcohol use and high-risk individuals, in order to minimize the progression to dependence and improve remission from AUD.

Ultrasound Propagation Velocity and Broadband Attenuation Can Help Evaluate the Healing Process of an Experimental Fracture

Ultrasonometry seems to have a future for the evaluation of fracture healing. Ultrasound propagation velocity (USPV) significantly decreases at the same time that bone diameter decreases as healing takes place, thus approaching normal values. In this investigation, both USPV and broadband ultrasound attenuation (BUA) were measured using a model of a transverse mid-diaphyseal osteotomy of sheep tibiae. Twenty-one sheep were operated and divided into three groups of seven, according to the follow-up period of 30, 60, and 90 days, respectively. The progress of healing of the osteotomy was checked with monthly conventional radiographs. The animals were killed at the end of the period of observation of each group, both operated-upon and intact tibiae being resected and submitted to the measurement of underwater transverse and direct contact transverse and longitudinal USPV and BUA at the osteotomy site. The intact left tibia of the 21 animals was used for control, being examined on a symmetrical diaphyseal segment. USPV increased while BUA decreased with the progression of healing, with significant differences between the operated and untouched tibiae and between the periods of observation, for most of the comparisons. There was a strong negative correlation between USPV and BUA. Both USPV and BUA directly reflect and can help predict the healing of fractures, but USPV alone can be used as a fundamental parameter. Ultrasonometry may be of use in clinical application to humans provided adequate adaptations can be developed. (C) 2010 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 29:444-451, 2011

Increased Vascular Permeability, Angiogenesis and Wound Healing Induced by the Serum of Natural Latex of the Rubber Tree Hevea brasiliensis

Increases in vascular permeability and angiogenesis are crucial events to wound repair, tumoral growth and revascularization of tissues submitted to ischemia. An increased vascular permeability allows a variety of cytokines and growth factors to reach the damaged tissue. Nevertheless, the angiogenesis supply tissues with a wide variety of nutrients and is also important to metabolites clearance. It has been suggested that the natural latex from Hevea brasiliensis showed wound healing properties and angiogenic activity. Thus, the purpose of this work was to characterize its angiogenic activity and its effects on vascular permeability and wound healing. The serum fraction of the latex was separated from the rubber with reduction of the pH. The activity of the dialyzed serum fraction on the vascular permeability injected in subcutaneous tissue was assayed according Mile`s method. The angiogenic activity was determined using a chick embryo chorioallantoic membrane assay and its effects on the wound-healing process was determined by the rabbit ear dermal ulcer model. The serum fraction showed evident angiogenic effect and it was effective in enhancing vascular permeability. In dermal ulcers, this material significantly accelerated wound healing. Moreover, the serum fraction boiled and treated with proteases lost these activities. These results are in accordance with the enhancement of wound healing observed in clinical trials carried out with a biomembrane prepared with the same natural latex. Copyright (C) 2009 John Wiley & Sons, Ltd.

Hyperbaric oxygen on the healing of ischemic colonic anastomosis - an experimental study in rats

The aim of the present study was to evaluate the effect of hyperbaric oxygen therapy (HBO(2)) on the healing process of ischemic colonic anastomoses in rats Forty Wistar rats were divided into four groups control (Group I), control and HBO(2) (Group 11), ischemia (Group III), ischemia and HBO(2) (Group IV) Ischemia was achieved by clamping four centimeters of the colonic arcade On the eighth therapy day, the anastomotic region was removed for quantification of hydroxyproline and immunohistochemical determination of metalloproteinases 1 and 9 (MMP1,MMP9) The immunohistochemical studies showed significantly larger metalloproteinase-labeled areas in Group IV compared with Group III for both MMP1 and MMP9 (p<001) This finding points to a higher remodeling activity of the anastomoses in this experimental group Additionally, animals subjected to hyperbaric oxygen therapy showed both a reduction in interstitial edema and an increase in hydroxyproline concentrations [at the anastomotic site] Therefore, we conclude that HBO(2) is indeed beneficial in anastomotic ischemia

The lectin KM+ induces corneal epithelial wound healing in rabbits

Neutrophil influx is essential for corneal regeneration (Gan et al. 1999). KM+, a lectin from Artocarpus integrifolia, induces neutrophil migration (Santos-de-Oliveira et al. 1994). This study aims at investigating a possible effect of KM+ on corneal regeneration in rabbits. A 6,0-mm diameter area of debridement was created on the cornea of both eyes by mechanical scraping. The experimental eyes received drops of KM+ (2.5 mu g/ml) every 2 h, The control eyes received buffer, The epithelial wounded areas of the lectin-treated and untreated eyes were stained with fluorescein, photographed and measured, The animals were killed 12 h (group 1, n = 5), 24 h (group 2, n = 10) and 48 h (group 3, n = 5) after the scraping. The corneas were analysed histologically (haematoxylin and eosin and immunostaining for proliferation cell nuclear antigen, p&3, vascular endothelial growth factor, c-Met and laminin). No significant differences were found at the epithelial gap between treated and control eyes in the group 1. However, the number of neutrophils in the wounded area was significantly higher in treated eyes in this group. Three control and seven treated eyes were healed completely and only rare neutrophils persisted in the corneal stroma in group 2. No morphological distinction was observed between treated and control eyes in group 3. In treated corneas of group 2, there was an increase in immunostaining of factors involved in corneal healing compared to controls, Thus, topical application of KM+ may facilitate corneal epithelial wound healing in rabbits by means of a mechanism that involves increased influx of neutrophils into the wounded area induced by the lectin.

The impact of perinatal and socioeconomic factors on mental health problems of children from a poor Brazilian city: a longitudinal study

Low birth weight and preterm birth, and social disadvantage may negatively affect mental health of children, but findings have been inconsistent. To assess the influence of perinatal and social factors on mental health problems in children aged 7-9 years. A random sample of 805 births in So Luis, Brazil was studied in 1997/1998 and again in 2005/2006. Perinatal, socioeconomic and demographic variables were assessed within 24 h after delivery. The Strengths and Difficulties Questionnaire (SDQ) was used to assess mental health problems in the children. Simple and multiple Poisson regressions were used for statistical analysis. The overall prevalence of mental health problems in the total sample was 47.7%. The prevalences of emotional and conduct problems were 58.2 and 48.8%, respectively. Only paternal age (< 20 years) was associated with mental health problems as measured by the full SDQ scale (prevalence ratio PR = 1.27). Children born to single mothers (PR = 1.31) and those with birth weight from 1,500 to 2,499 g (PR = 1.18) and from 2,500 to 2,999 g (PR = 1.17) had a higher risk of emotional problems, but those from low income families had a lower risk (PR = 0.80). Children with a father of less than 20 years had a higher risk of having problems with their peers (PR = 1.75). A maternal education of 9 years or over was inversely associated with peer (PR = 0.70) and conduct problems (PR = 0.73). Girls had a lower risk of conduct (PR = 0.77) and hyperactivity problems (PR = 0.68). A maternal education of 4 years or less increased the risk of hyperactivity (PR = 1.48). Socioeconomic and demographic conditions were better predictors of mental health problems in children than birth weight or preterm birth. However, since most effect sizes were small most mental health problems were, unexplained by the variables in the study.