Early Infantil Krabbe Disease with Unusual Survival

Introduction: Globoid cell leukodystrophy (Krabbe disease) is caused by a deficiency of the lysosomal galactocerebrosidase that results in progressive demyelination. The sole treatment is hematopoietic cell transplantation, which is only effective if performed before the onset of signs. In the absence of treatment, most children with early infantile Krabbe disease die within 2 years. Case Report: Female patient, first child of non-consanguineous parents, apparently normal till the fifth month of age when she presented with irritability, stiffness with clenched fists, developmental delay and feeding difficulties that progressed rapidly to failure to thrive, apathy, psychomotor regression, few spontaneous movements and spastic tetraparesis. Cerebral MRI showed extensive cerebral white matter abnormalities, relatively sparing the U-fibers, with a pattern of radiating stripes. Galactocerebrosidase activity in leukocytes and fibroblasts and molecular studies confirmed the diagnosis of Krabbe disease. After the rapid and regressive initial phase, she showed no further clinical progression of the disorder and although she did not grow she even showed regression of irritability and had a stable evolution and good visual contact until death over the age of 5 years. Comments: Our case shows that patients may have a stabilized form of disease and that a longer survival than described in the literature without transplant is possible in some patients.

Non-Progressive Leukoencephalopathy with Bilateral Temporal Cysts

We report two cases of a peculiar leukoencephalopathy with temporal cysts. Both patients have a non-progressive neurological disorder with mental retardation, microcephaly and sensorineural deafness although clinical differences between them may reflect a different aetiology. The metabolic disorders with white matter involvement and the recently described leukoencephalopathies (Van Der Knaap disease, 'vanishing white matter disease') were excluded based on clinical, biologic and imaging findings. Cytomegalovirus infection is a likely possibility in the first case although the magnetic resonance imaging picture is only partially similar to previously reported cases. Our patients are strikingly similar to the patients reported by Deonna et al. and Olivier et al. We discuss the clinical and imaging findings in our patients and the differential diagnosis considering the known disorders of the white matter in childhood.

Pyoderma gangrenosum and ulcerative colitis in the tropics

Pyoderma gangrenosum is a rare inflammatory skin condition, characterized by progressive and recurrent skin ulceration. There may be rapidly enlarging, painful ulcers with undermined edges and a necrotic, hemorrhagic base. Disorders classically associated with pyoderma gangrenosum include rheumatoid arthritis, inflammatory bowel disease, paraproteinemia and myeloproliferative disorders. There have been some reports of the occurrence of pyoderma gangrenosum in Africa, and in Nigeria, but only one specifically reported pyoderma gangrenosum in association with ulcerative colitis. We report on a 45-year-old man who presented with pyoderma gangrenosum associated with ulcerative colitis; the second report in Nigeria. The skin lesions were managed with daily honey wound dressings. Oral dapsone and prednisolone were started. The frequency of the bloody diarrhea decreased, and was completely resolved by the second week after admission. The ulcers also showed accelerated healing. The goal of therapy is directed towards the associated systemic disorder, if present.

Progressive multifocal leukoencephalopathy as an AIDS-defining condition in a patient with high CD4+ T-lymphocyte count

We present the case of a 31-year-old man with acute manifestation of progressive multifocal leukoencephalopathy (PML) as an AIDS-defining disease. The patient presented with a three-day history of neurological disease, brain lesions without mass effect or contrast uptake and a slightly increased protein concentration in cerebrospinal fluid. A serological test for HIV was positive and the CD4+ T-cell count was 427/mm³. Histological examination of the brain tissue revealed abnormalities compatible with PML. The disease progressed despite antiretroviral therapy, and the patient died three months later. PML remains an important cause of morbidity and mortality among HIV-infected patients.

Changes in body fluid and energy compartments during prolonged hunger strike

Prolonged total food deprivation in non-obese adults is rare, and few studies have documented body composition changes in this setting. In a group of eight hunger strikers who refused alimentation for 43 days, water and energy compartments were estimated, aiming to assess the impact of progressive starvation. Measurements included body mass index (BMI), triceps skinfold (TSF), arm muscle circumference (AMC), and bioimpedance (BIA) determinations of water, fat, lean body mass (LBM), and total resistance. Indirect calorimetry was also performed in one occasion. The age of the group was 43.3±6.2 years (seven males, one female). Only water, intermittent vitamins and electrolytes were ingested, and average weight loss reached 17.9%. On the last two days of the fast (43rd-44th day) rapid intravenous fluid, electrolyte, and vitamin replenishment were provided before proceeding with realimentation. Body fat decreased approximately 60% (BIA and TSF), whereas BMI reduced only 18%. Initial fat was estimated by BIA as 52.2±5.4% of body weight, and even on the 43rd day it was still measured as 19.7±3.8% of weight. TSF findings were much lower and commensurate with other anthropometric results. Water was comparatively low with high total resistance, and these findings rapidly reversed upon the intravenous rapid hydration. At the end of the starvation period, BMI (21.5±2.6 kg/m²) and most anthropometric determinations were still acceptable, suggesting efficient energy and muscle conservation. Conclusions: 1) All compartments diminished during fasting, but body fat was by far the most affected; 2) Total water was low and total body resistance comparatively elevated, but these findings rapidly reversed upon rehydration; 3) Exaggerated fat percentage estimates from BIA tests and simultaneous increase in lean body mass estimates suggested that this method was inappropriate for assessing energy compartments in the studied population; 4) Patients were not morphologically malnourished after 43 days of fasting; however, the prognostic impact of other impairments was not considered in this analysis.

Quantitative study of myocardial microcirculation in arterial hypertension due to progressive inhibition of NO synthesis

OBJECTIVE: To study the quantitative changes in intramyocardial blood vessels in rats in whom nitric oxide synthesis was inhibited. METHODS: Four groups of 10 rats were studied: control (C25 and C40) and L-NAME (L25 and L40). The animals L25 and L40 received L-NAME in the dosage of 50mg/kg/day for 25 and 40 days, respectively. On days 26 and 41 the animals in groups 25 and 40 were sacrificed. Analysis of the myocardium was performed using light microscopy and stereology. RESULTS: Arterial blood pressure and heart weight increased 74.5 and 57.8% after 25 days and 90.2 and 34.6% after 40 days, respectively. Comparing the L-NAME rats with the respective controls revealed that vessel volume density decreased 31.3% after 40 days, and the vessel length-density decreased 53.5% after 25 days and 25.7% after 40 days. The mean cross-sectional area of the vessels showed an important reduction of 154.6% after 25 days. The intramyocardial vessels decreased significantly in length- density in the L-NAME animals. The mean cross-sectional area of the vessels, which normally increases during heart growth between 25 and 40 days, showed a precocious increase by the 25th day in the L-NAME rats. This suggests an increase of the size of the heart, including blood vessels. CONCLUSION: The inhibition of the NO synthesis provokes rarefaction in the intramyocardial vessels that progresses with the time of administration of L-NAME.

Derechos de participación e información en programas dirigidos a adolescentes en escuelas secundarias de la Ciudad de Córdoba: cumplimiento progresivo y estrategias de promoción. Participation and information rights in programs for adolescents in secondary schools in Cordoba City: progressive implementation and promotion strategies.

Abordar la infancia desde el enfoque de derechos (ED) implica una lectura de los derechos de los cuales los niños, niñas y adolescentes (NNA) son titulares y de las acciones estatales que se implementan para viabilizar el ejercicio concreto de ellos. Esta perspectiva exige comprender los contenidos de las políticas púb,el grado de participación que se les asigna y los sentidos que ellas toman en términos de progresividad de los derechos. Los cambios de concepción de la infancia desde la Convención Internacional de los Derechos del Niño (CIDN) y los cambios legislativos interpelan al Estado y la sociedad a modificar la visión hegemónica. Nuestra hipótesis gira alrededor de las siguientes considerac.: se han producido algunas modificaciones en las políticas y acciones estatales, aún no se dan las transformaciones necesarias de las lógicas institucionales y de los operadores que estimulen la participación de NNA en el ámbito escolar. Esto se visualiza en la ausencia de análisis cuali de los contenidos de las acc. y la falta de ftes estadísticas específicas, que muestren la orientac.de los contenidos en los principios de la protecc.integral. Estos presupuestos plantean interrogantes que delimitan el problema de investigación: ¿cómo se construye y reconstruye el ejercicio de la ciudadanía a través de la participación de los NNA, en su paso por la escuela, y cuáles son las lógicas institucionales que habilitan u obstaculizan ese ejercicio? Y ¿cuáles son los recursos institucionales que permitan que los programas y acciones redunden en el ejercicio efectivo de los derechos?.Obj.gral: Describir, analizar e interpretar la progresividad en el ejercicio de los derechos de participación e informacióin que tienen los adolescentes en escuelas secundarias de la cd de Cba, durante 2005 / 2010, para promover espacios públicos de construcción de ciudadanía. Se analizarán tres escuelas de Córdoba, escuela pública provincial, púb. nacional y privada. Obj. Espec.: Analizar las prácticas participativas formales e informales en las escuelas seleccionadas.- Aplicar indicadores cuanti y cualitativos del “Sistema de Indicadores para los derechos de la Infancia” Describir y analizar los recursos materiales y humanos. Elaborar y proponer procedim. para la confec. de registros de datos estadísticos - Elaborar y proponer lineamientos para la elaborac.e implementac.de acciones. Diseñar herramientas de difusión sobre los ds de participación e información.Esta investigac. es de carácter descriptivo e interpretativo, analizará diferentes ftes de informac.con técnicas cuanti y cualitativas, durante período la promulgación de la Ley 26061/05 y la adhesión prov. 9396/07. Se tomarán del Sistema de Indicadores, el derecho a la educación, el tema transversal “Acceso a la información y participación”, y las categorías de análisis “Recepción del Derecho y Capacidades estatales”. Se trabajaran indicadores cuanti y señales de progreso (cualitativos): estructurales, proceso y resultados. Serán analizados los Programas implementados durante el período de estudio. Estrategias cuali observac. participante, entrevistas, grupos focales, talleres de sensibilización, etc .Otras ftes de info: doc. institucionales, registros, evaluac, contenidos de programas y campañas y de difusión, prensa escrita, legislaciones, etc. La info se analizará a través Programa Atlas Ti, y del análisis estadístico. Algunos resultados esperados: Evaluac.y ajuste del Sistema de indicadores, la sensibilizac. desde el EF de autorid. escol. para la formulac. de planes y programas para el monitoreo adecuado de los mismos y para la rendic. de ctas de su gestión. Estimular la participac. de NNA en la escuela. Realizac.de documental. Brindar herramientas al Edo para superv de la aplicación progresiva del ejercicio de los derechos de participación e información de NNA Promov la continua evaluac. de los programas y acc.desde el ED para estimular el reconoc. de la nec.de ajuste de la política. The issue of children from the rights focus implies a reading of the rights in which children and adolescents are the holders and the state actions that are implemented to enable the exercise of them. This perspective requires understanding the contents of the public policies, the participation level that is assigned, and the senses that they take in terms of rights progressivity of. The conception changes about children since the International Convention on the Rights of the Child and legislative changes challenge to the State and society to modify hegemony vision. Our hypothesis revolves around the following considerations: there have been some public policies and state actions changes, but they not turn out, yet, transformations in logical institutional and actors whose are encourages children participation in school. This could be reflects in the absence of qualitative analysis in the actions contents and the lack of sources specific statistics, that will be showing the control of the principal contents of integral protection. These, raise the questions that delimit our problem research: how is built citizenship exercise through children and adolescent’s participation in the school, and what are the institutional logical that empowers or turns difficult that exercise? And What are the institutional resources that make possible the effective exercise of the rights, through different programs and actions?. General Objective: To describe, analyze and interpret exercise progressivity participation and information rights that have the adolescents in secondary schools in Córdoba City during 2005 / 2010, in order to promote public spaces for the construction of citizenship. It will analyze three schools in Cordoba, provincial public school, national public school and private school. . Obj. Specifics: To analyze the formal and informal participative practices in the schools selected. - To apply quantitative and qualitative indicators of the “Indicators System for Infa

Elevated blood pressure prevalence in children did not follow the increase in overweight: results from a school-based study in a rapidly developing country, 1998-2006

Background: Blood pressure (BP) is strongly associated with body weight and there is concern that the pediatric overweight epidemic could lead to an increase in children's mean BP. Objectives: We analyzed BP trends from 1998 to 2006 among children of the Seychelles, a rapidly developing middle-income country in Africa. Methods: Serial school-based surveys of weight, height and BP were conducted yearly between 1998-2006 among all students of the country in four school grades (kindergarten, 4th, 7th and 10th years of compulsory school). We used the CDC criteria to define "overweight" (BMI _95th sex-, and age-specific percentile) and the NHBPEP criteria for "elevated BP" (BP _95th sex-, age-, and height specific percentile). Methods for height, weight, and BP measurements were identical over the study period. The trends in mean BMI and mean systolic/diastolic BP were assessed with linear regression. Results: 27,703 children aged 4-18 years (participation rate: 79%) contributed 43,927 observations on weight, height, and BP. The prevalence of overweight increased from 5.1% in 1998-2000 to 8.1% in 2004-2006 among boys, and from 6.1% to 9.1% among girls, respectively. The prevalence of elevated BP was 8.4% in 1998-2000 and 6.9% in 2004-2006 among boys; 9.8% and 7.8% among girls, respectively. Over the 9-years study period, age-adjusted body mass index (BMI) increased by 0.078 kg/m2/year in boys and by 0.083 kg/m2/year in girls (both sexes, P_0.001). Age- and height-adjusted systolic BP decreased by -0.37 mmHg/year in boys and by -0.34 mmHg/year in girls (both sexes, P_0.001). Diastolic BP did not change in boys (-0.02 mmHg/year, P: 0.40) and slightly increased in girls (0.07 mmHg/year, P: 0.003). These trend estimates were altered modestly upon further adjustment for BMI or if analyses were based on median rather than mean values. Conclusion: Although body weight increased markedly between 1998 and 2006 in this population, systolic BP decreased and diastolic BP changed only marginally. This suggests that population increases in body weight are not necessarily associated with corresponding rises in BP in children.

Structural analysis of Turtle mountain (Alberta) using digital elevation model: Toward a progressive failure

In 1903, the eastern slope of Turtle Mountain (Alberta) was affected by a 30 M m3-rockslide named Frank Slide that resulted in more than 70 casualties. Assuming that the main discontinuity sets, including bedding, control part of the slope morphology, the structural features of Turtle Mountain were investigated using a digital elevation model (DEM). Using new landscape analysis techniques, we have identified three main joint and fault sets. These results are in agreement with those sets identified through field observations. Landscape analysis techniques, using a DEM, confirm and refine the most recent geology model of the Frank Slide. The rockslide was initiated along bedding and a fault at the base of the slope and propagated up slope by a regressive process following a surface composed of pre-existing discontinuities. The DEM analysis also permits the identification of important geological structures along the 1903 slide scar. Based on the so called Sloping Local Base Level (SLBL) an estimation was made of the present unstable volumes in the main scar delimited by the cracks, and around the south area of the scar (South Peak). The SLBL is a method permitting a geometric interpretation of the failure surface based on a DEM. Finally we propose a failure mechanism permitting the progressive failure of the rock mass that considers gentle dipping wedges (30°). The prisms or wedges defined by two discontinuity sets permit the creation of a failure surface by progressive failure. Such structures are more commonly observed in recent rockslides. This method is efficient and is recommended as a preliminary analysis prior to field investigation.

Periodontitis and gingivitis in inflammatory bowel disease: a case-control study.

BACKGROUND: The oral cavity is frequently affected in patients with inflammatory bowel disease (IBD), especially in patients with Crohn's disease (CD). Periodontitis is thought to influence systemic autoimmune or inflammatory diseases. We aimed to analyze the relationship of periodontitis and gingivitis markers with specific disease characteristics in patients with IBD and to compare these data with healthy controls. METHODS: In a prospective 8-month study, systematic oral examinations were performed in 113 patients with IBD, including 69 patients with CD and 44 patients with ulcerative colitis. For all patients, a structured personal history was taken. One hundred thirteen healthy volunteers served as a control group. Oral examination focussed on established oral health markers for periodontitis (bleeding on probing, loss of attachment, and periodontal pocket depth) and gingivitis (papilla bleeding index). Additionally, visible oral lesions were documented. RESULTS: Both gingivitis and periodontitis markers were higher in patients with IBD than in healthy control. In univariate analysis and logistic regression analysis, perianal disease was a risk factor for periodontitis. Nonsmoking decreased the risk of having periodontitis. No clear association was found between clinical activity and periodontitis in IBD. In only the CD subgroup, high clinical activity (Harvey-Bradshaw index > 10) was associated with 1 periodontitis marker, the loss of attachment at sites of maximal periodontal pocket depth. Oral lesions besides periodontitis and gingivitis were not common, but nevertheless observed in about 10% of patients with IBD. CONCLUSIONS: IBD, and especially perianal disease in CD, is associated with periodontitis. Optimal therapeutic strategies should probably focus on treating both local oral and systemic inflammation.

Pension reform in a rapidly ageing country: the case of Ukraine

Ukraine has a rapidly ageing and declining population. A dynamic forward-­looking Computable General Equilibrium (CGE) model with an explicitly modelled Pay‐As‐You-­Go pension scheme is constructed to perform simulations of different pension reform scenarios and investigate the impact of population ageing on a wide range of macroeconomic variables. It is shown that, changes in age structure will result in a significant negative impact on the economy and stability of the pension system. Analysis of the potential changes to the pension system is limited to modelling an increase of the pension age, keeping either the workers’ contribution rate or replacement rate constant.