La construcción del vínculo familia-escuela en el ingreso a educación inicial : estudio de caso de un jardín de infantes

La presente investigación se propone analizar las expectativas, concepciones y prácticas llevadas a cabo por familias y maestros, en el ingreso de los niños de tres años a la educación inicial. La comprensión de estas circunstancias se realiza desde la perspectiva sistémica, paradigma teórico que privilegia las relaciones sobre los elementos, considerando al sistem a familiar y al educativo en términos de interacción. Se postula que la forma en que el sistema educativo y el familiar acompañen el proceso de iniciación a la vida escolar de los niños incide en la manera en que transitarán por posteriores etapas educativas. Asimismo se sostiene que en la medida en que el sistema familiar comparta la labor educativa con el jardín de infantes desde el comienzo de la escolarización, se amplía la posibilidad de potenciar el desarrollo integral de los niños. Se trata de un estudio de caso utilizando el enfoque metodológico cualitativo desde la observación etnográfica, apuntando a comprender la construcción del vínculo familia \2013 escuela, desde del significado de las acciones de los actores educativos involucrados. La investigación se llevó a cabo con niños de tres años que ingresaban a jardín de infantes y que no tenían escolaridad previa. Este criterio de exclusión radicó en que se buscó identificar, analizar y comprender las repercusiones que tiene la construcción del vínculo tanto para el sistema familiar como para el educativo desde el comienzo de escolaridad. La decisión de focalizar la investigación en primera infancia se fundamenta en la importancia que tienen para el desarrollo integral los primeros contactos de los infantes con el ámbito educativo. Desde esta investigación se sostiene que la educación es un proceso continuo y dinámico que tiene sus cimientos en la educación inicial.Consecuentemente se plantea como necesario que tanto la familia como el jardín de infantes acompañen los procesos educativos de los niños, generando entre sí la mayor comprensión y aceptación mutua

Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease leading to the death of affected individuals within years. The involvement of inflammation in the pathogenesis of neurodegenerative diseases, including ALS, is increasingly recognized but still not well understood. The aim of this study is to evaluate the levels of inflammation-related IL-1 family cytokines (IL-1β, IL-18, IL-33, IL-37) and their endogenous inhibitors (IL-1Ra, sIL-1R2, IL-18BP, sIL-1R4) in patients with sporadic ALS (sALS), METHODS: Sera were collected from 144 patients (125 patients were characterized by disease form, duration, and disability, using the revised ALS functional rating scale (ALSFRS-R) and from 40 matched controls. Cerebrospinal fluid (CSF) was collected from 54 patients with sALS and 65 patients with other non-infectious non-oncogenic diseases as controls. Cytokines and inhibitors were measured by commercial ELISA. RESULTS: Among the IL-1 family cytokines tested total IL-18, its endogenous inhibitor IL-18BP, and the active form of the cytokine (free IL-18) were significantly higher in the sALS sera than in controls. No correlation between these soluble mediators and different clinical forms of sALS or the clinical setting of the disease was found. IL-18BP was the only mediator detectable in the CSF of patients. CONCLUSIONS: Among the IL-1 family cytokines, only IL-18 correlates with this disease and may therefore have a pathological role in sALS. The increase of total IL-18 suggests the activation of IL-18-cleaving inflammasome. Whether IL-18 upregulation in circulation of sALS patients is a consequence of inflammation or one of the causes of the pathology still needs to be addressed

Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis.

Background The causes of Amyotrophic Lateral Sclerosis (ALS) are unknown. A bulk of evidence supports the hypothesis that oxidative stress and mitochondrial dysfunction can be implicated in ALS pathogenesis. Methods We assessed, in cerebrospinal fluid (CSF) and in plasma of 49 ALS patients and 8 controls, the amount of oxidized proteins (AOPP, advanced oxidation protein products), the total antioxidant capacity (FRA, the ferric reducing ability), and, in CSF, two oxidation products, the 4-hydroxynonenal and the sum of nitrites plus nitrates. Results The FRA was decreased (p = 0.003) in CSF, and AOPP were increased in both CSF (p = 0.0039) and plasma (p = 0.001) of ALS patients. The content of AOPP was differently represented in CSF of ALS clinical subsets, resulting in increase in the common and pseudopolyneuropathic forms (p < 0.001) and nearly undetectable in the bulbar form, as in controls. The sum of nitrites plus nitrates and 4-hydroxynonenal were unchanged in ALS patients compared with controls. Conclusion Our results, while confirming the occurrence of oxidative stress in ALS, indicate how its effects can be stratified and therefore implicated differently in the pathogenesis of different clinical forms of ALS

Lack of Association between Nuclear Factor ErythroidDerived 2-Like 2

Oxidative stress involvement has been strongly hypothesized among the possible pathogenic mechanisms of motor neuron degeneration in amyotrophic lateral sclerosis (ALS). The intracellular redox balance is finely modulated by numerous complex mechanisms critical for cellular functions, among which the nuclear factor erythroid-derived 2-like 2 (NFE2L2/Nrf2) pathways. We genotyped, in a cohort of ALS patients ( = 145) and healthy controls ( = 168), three SNPs in Nrf2 gene promoter: −653 A/G, −651 G/A, and −617 C/A and evaluated, in a subset ( = 73) of patients, advanced oxidation protein products (AOPP), ironreducing ability of plasma (FRAP), and plasma thiols (-SH) as oxidative damage peripheral biomarkers. Nrf2 polymorphisms were not different among patients and controls. Increased levels of AOPP ( &lt; 0.05) and decreased levels of FRAP ( &lt; 0.001) have been observed in ALS patients compared with controls, but no difference in -SH values was found. Furthermore, no association was found between biochemical markers of redox balance and Nrf2 polymorphisms. These data confirm an altered redox balance in ALS and indicate that, while being abnormally modified compared to controls, the oxidative stress biomarkers assessed in this study are independent from the −65

Amyotrophic Lateral Sclerosis: A Genetic Point Of View

In the last twenty years the rapid advances in neurogenetic have revolutionized not only the molecular, pathological inheritance but also the clinical concept of ALS. Here we review the current genetic breakthrough in familial and sporadic ALS, considering how this knowledge has allowed widening of the scenario on the possible pathogenic disease mechanisms and better understanding of the relationship between the genetic, pathological and clinical subtypes

Pes cavus and hereditary neuropathies: when a relationship should be suspected.

The hereditary peripheral neuropathies are a clinically and genetically heterogeneous group of diseases of the peripheral nervous system. Foot deformities, including the common pes cavus, but also hammer toes and twisting of the ankle, are frequently present in patients with hereditary peripheral neuropathy, and often represent one of the first signs of the disease. Pes cavus in hereditary peripheral neuropathies is caused by imbalance between the intrinsic muscles of the foot and the muscles of the leg. Accurate clinical evaluation in patients with pes cavus is necessary to exclude or confirm the presence of peripheral neuropathy. Hereditary peripheral neuropathies should be suspected in those cases with bilateral foot deformities, in the presence of family history for pes cavus and/or gait impairment, and in the presence of neurological symptoms or signs, such as distal muscle hypotrophy of limbs. Herein, we review the hereditary peripheral neuropathies in which pes cavus plays a key role as a "spy sign," discussing the clinical and molecular features of these disorders to highlight the importance of pes cavus as a helpful clinical sign in these rar

Lithium therapy is able to reduce oxidative stress in amyotrophic lateral sclerosis patients

Objectives: The causes of motorneurons loss in Amyotrophic Lateral Sclerosis (ALS) are still unknown, but accumulating evidences indicate that oxidative stress is involved in the pathogenesis of this disease. Recently, a possible role of lithium salts on ALS treatment has been proposed. Lithium, a mood-stabilizing drug, is increasingly recognized as neuroprotectant, mainly for mechanisms linked to autophagy. Methods: We tested, in an open label therapeutic trial, the effect of lithium, at targeted plasma levels ranging from 0.4 to 0.8 mEq/liter, on clinical and oxidative stress-related laboratory parameters in 30 ALS patients. In the enrolled patients, we assessed blood levels of advanced oxidation protein products (AOPP), ferric reducing ability of plasma (FRAP), total glutathione, as well as disease-related ALSFRS-r andMRC scales at baseline and at 6 months after the targeted plasma lithium level was achieved. Results: Reduction ofAOPP (p=0.005) and increase of total glutathione (p=0.002), as compared to the values before treatment, were observed. FRAP increased but not significantly. Clinical evaluations at 6 months after the targeted plasma lithium level was achieved, showed a decrease of ALS-FRS and MRC scale scores compared to pre-treatment’s one, but not significantly. Conclusion: Lithium therapy is able to reduce circulating levels of blood oxidative stress markers inALS.Whether or not the modification of oxidative stress markers and antioxidant defence is related to a direct effect of this drug on pathogenic mechanism of the disease is still an open question, to be addressed with long term studies

Clinical Trials for Neuroprotection in ALS

Owing to uncertainty on the pathogenic mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis (ALS) riluzole remains the only available therapy, with only marginal effects on disease survival. Here we review some of the recent advances in the search for disease-modifying drugs for ALS based on their putative neuroprotective effetcs. A number of more or less established agents have recently been investigated also in ALS for their potential role in neuroprotection and relying on antiglutamatergic, antioxidant or antiapoptotic strategies. Among them Talampanel, beta-lactam antibiotics, Coenzyme Q10, and minocycline have been investigated. Progress has also been made in exploiting growth factors for the treatment of ALS, partly due to advances in developing effective delivery systems to the central nervous system. A number of new therapies have also been identified, including a novel class of compounds, such as heat-shock protein co-inducers, which upregulate cell stress responses, and agents promoting autophagy and mitochondriogenesis, such as lithium and rapamycin. More recently, alterations of mRNA processing were described as a pathogenic mechanism in genetically defined forms of ALS, as those related to TDP-43 and FUS-TLS gene mutations. This knowledge is expected to improve our understanding of the pathogenetic mechanism in ALS and developing more effective therapies

Effects of lithium administration on oxidative stress markers in amyotrophic lateral sclerosis patients

Objectives: Amyotrophic lateral sclerosis (ALS) is a neurological disease characterized by a selective degeneration and death of upper and lower motor neurons, initiating in mid adult life and almost invariably progressing to paralysis and death over a 1–5 year time course. The causes of motorneurons loss are still unknown, but accumulating evidences indicate that oxidative stress is involved in the pathogenesis of this disease. The only treatment actually approved for this disease is Riluzole, an antiglutamatergic drug, that prolongs survival in ALS patients by about two months. Recently it has been proposed a possible role of lithium salts on the treatment of this disease. Lithium, a well known mood-stabilizing drug used for the treatment of bipolar affective disorders, at the same time is increasingly recognized as neuroprotectant agent mainly by its effects on cellular mechanisms linked to autophagy and mitochondriogenesis. Methods: We tested the effect of lithium carbonate (plasma levels ranging from 0.4 to 0.8 mEq/l) on 20 ALS patients (mean age ± SD: 64.3 years ± 7.0). In all enrolled patients, before beginning treatment, we assessed peripheral oxidative stress markers, in particularly advanced oxidation protein products (AOPP), ferric reducing ability of plasma (FRAP), total glutathione, and disease progression clinical signs quantified by ALSFRS-r and MRC scale. These evaluations were performed, during add-on to riluzole treatment, at the acquisition of the targeted plasma lithium level in plasma and at 6 months after starting lithium treatment. Results: We evidenced that, at lithium range of 0.4–0.8 mEq/l, the patients presented, compared to baseline values, significant reduction of AOPP (p\0.005), increase of FRAP but not significantly (p = 0.08) and significant increase of total glutathione (p\0.002). Conclusion: We conclude that lithium therapy is able to reduce circulating levels of blood oxidative stress markers in ALS patients. ALSFRS- r and MRC did not change after this short course treatment. Whether or not the modification of oxidative stress markers and anti-oxidant defence is related to a direct effect of this drug on pathogenicmechanism and time course of the disease is still an open question, to be addressed with long term studies in conjunction with clinical efficacy assessment

Strategies for clinical approach to neurodegeneration in Amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and ultimately fatal neurodegenerative disorder of unknown aetiology that involves the loss of upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord. Significant progress in understanding the cellular mechanisms of motor neuron degeneration in ALS has not been matched with the development of therapeutic strategies to prevent disease progression, and riluzole remains the only available therapy, with only marginal effects on disease survival. More recently alterations of mRNA processing in genetically defined forms of ALS, as those related to TDP-43 and FUS-TLS gene mutations have provided important insights into the molecular networks implicated in the disease pathogenesis. Here we review some of the recent progress in promoting therapeutic strategies for neurodegeneration