Programa de juego para la promoción de la salud psicomotriz en niños de edad preescolar

El juego como modalidad que permite canalizar la comunicación con el niño, se involucra en su mundo, estudia sus manifestaciones a través del desarrollo humano y así mismo implementa actividades que facilitan la potencialización de funciones específicas en niveles cognitivos y corporales. Por ello se pretende hacer un aporte relevante a la disciplina fisioterapéutica, iniciando con la conceptualización del juego, describiendo teorías propuestas por expertos en el área, caracterizando elementos de la psicomotricidad de la población en estudio, para fundamentar planteamientos de diversas ciencias como la psicología y otras ramas del conocimiento que toman al movimiento corporal humano como objeto de estudio, que nos brindan el soporte teórico necesario para finalmente estructurar un modelo conceptual de juego y psicomotricidad para el desarrollo de programas de promoción de la salud en niños en edad preescolar, con el fin de optimizar las cualidades del movimiento.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.

Texture description and distribution of components in ODP Hole 103-639D (Figure 2)

A detailed analysis of the texture, matrix, and elements of the microfacies from the carbonate sequence recovered in ODP Hole 639D resulted in a typological classification of 10 major microfacies types and their variants. The variations in distribution and succession of type microfacies allowed us to divide the carbonate sequence into 12 facies-defined subunits. Based on the analyzed characteristics and their relations, we also propose a paleoenvironmental interpretation involving a mixed carbonate/terrigenous ramp model instead of the previous, classical zoned carbonate platform.

Stable carbon and oxygen isotope ratios of carbonates of ODP Site 103-639

A Tithonian sequence of shallow-water limestones, intercalated with siliciclastics and overlain by dolomite, was recovered during drilling at ODP Site 639 on the edge of a tilted fault block. The carbonates were strongly affected by fracturing, dolomitization, dedolomitization, and compaction. The chronology and nature of the fractures, fracture infilling, and diagenesis of the host rock are established and correlated for both the limestone and the dolomite. A first phase of dolomitization affected limestone that was already, at least partially, indurated. In the limestone unit, fractures were filled by calcite and dolomite; most of the dolomite was recrystallized into calcite, except for the upper part. In the dolomitic unit, the first-formed dolomite was progressively recrystallized into saddle dolomite, as fractures were simultaneously activated. The dolomitic textures become less magnesian (the molar ratio mMg/mCa goes from 1.04-0.98 to 0.80), and the d18O (PDB) ranges from -10 per mil to -8 per mil. The varying pores and fissures are either cemented by a calcic saddle dolomite (mMg/mCa ranging from 0.95 to 0.80) or filled with diverse internal sediments of detrital calcic dolomite, consisting of detrital dolomite silt (d18O from -9 per mil to -7 per mil) and laminated yellow filling (with different d18O values that range from -4 per mil to +3 per mil). These internal sediments clearly contain elements of the host rock and fragments of saddle crystals. They are covered by marls with calpionellids of early Valanginian age, which permits dating of most of the diagenetic phases as pre-Valanginian. The dolomitization appears to be related to fracturing resulting from extensional tectonics; it is also partially related to an erosional episode. Two models of dolomitization can be proposed from the petrographic characteristics and isotopic data. Early replacement of aragonite bioclasts by sparite, dissolution linked to dolomitization, and negative d18O values of dolomite suggest a freshwater influence and 'mixing zone' model. On the other hand, the significant presence of saddle dolomite and repeated negative d18O values suggest a temperature effect; because we can dismiss deep burial, hydrothermal formation of dolomite would be the most probable model. For both of these hypotheses, the vadose filling of cavities and fractures by silt suggests emersion, and the different, and even positive, d18O values of the last-formed yellow internal sediment could suggest dolomitization of the top of the sequence under saline to hypersaline conditions. Fracturing resulting in the reopening of porosity and the draining of dolomitizing fluids was linked to extensional tectonics prior to the tilting of the block. These features indicate an earlier beginning to the rifting of the Iberian margin than previously known. Dolomitization, emersion, and erosion correspond to eustatic sea-level lowering at the Berriasian/Valanginian boundary. Diagenesis, rather than sedimentation, seems to mark this global event and to provide a record of the regional tectonic history.

Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature.

Can We Predict The Clinical Outcomes Of Genitourinary Trauma Patients And Offer Them An Evidence-based Support? The Case For Telemedicine Network.

32

Comparative Cytogenetics Of Physalaemus albifrons And Physalaemus Cuvieri Species Groups (anura, leptodactylidae).

Recently, Physalaemus albifrons (Spix, 1824) was relocated from the Physalaemus cuvieri group to the same group as Physalaemus biligonigerus (Cope, 1861), Physalaemus marmoratus (Reinhardt & Lütken, 1862) and Physalaemus santafecinus Barrio, 1965. To contribute to the analysis of this proposition, we studied the karyotypes of Physalaemus albifrons, Physalaemus santafecinus and three species of the Physalaemus cuvieri group. The karyotype of Physalaemus santafecinus was found to be very similar to those of Physalaemus biligonigerus and Physalaemus marmoratus, which were previously described. A remarkable characteristic that these three species share is a conspicuous C-band that extends from the pericentromeric region almost to the telomere in the short arm of chromosome 3. This characteristic is not present in the Physalaemus albifrons karyotype and could be a synapomorphy of Physalaemus biligonigerus, Physalaemus marmoratus and Physalaemus santafecinus. The karyotype of Physalaemus santafecinus is also similar to those of Physalaemus marmoratus and Physalaemus biligonigerus owing to the presence of several terminal C-bands and the distal localization of the NOR in a small metacentric chromosome. In contrast, the Physalaemus albifrons karyotype has no terminal C-bands and its NOR is located interstitially in the long arm of submetacentric chromosome 8. The NOR-bearing chromosome of Physalaemus albifrons very closely resembles those found in Physalaemus albonotatus (Steindachner, 1864), Physalaemus cuqui Lobo, 1993 and some populations of Physalaemus cuvieri Fitzinger, 1826. Additionally, the Physalaemus albifrons karyotype has an interstitial C-band in chromosome 5 that has been exclusively observed in species of the Physalaemus cuvieri group. Therefore, we were not able to identify any chromosomal feature that supports the reallocation of Physalaemus albifrons.

Pregnancy In Sickle Cell Disease - Do We Know What To Expect?

36

Clinical trials in Brazilian journals of ophthalmology: where we are

PURPOSE: To compare clinical trials published in Brazilian journals of ophthalmology and in foreign journals of ophthalmology with respect to the number of citations and the quality of reporting [by applying the Consolidated Standards for Reporting Trials (CONSORT) statement writing standards]. METHODS: The sample of this systematic review comprised the two Brazilian journals of ophthalmology indexed at Science Citation Index Expanded and six of the foreign journals of ophthalmology with highest Impact Factor® according ISI. All clinical trials (CTs) published from January 2009 to December 2010 at the Brazilians journals and a 1:1 randomized sample of the foreign journals were included. The primary outcome was the number of citations through the end of 2011. Subgroup analysis included language. The secondary outcome included likelihood of citation (cited at least once versus no citation), and presence or absence of CONSORT statement indicators. RESULTS: The citation counts were statistically significantly higher (P<0.001) in the Foreign Group (10.50) compared with the Brazilian Group (0.45). The likelihood citation was statistically significantly higher (P<0.001) in the Foreign Group (20/20 - 100%) compared with the Brazilian Group (8/20 - 40%). The subgroup analysis of the language influence in Brazilian articles showed that the citation counts were statistically significantly higher in the papers published in English (P<0.04). Of 37 possible CONSORT items, the mean for the Foreign Group was 20.55 and for the Brazilian Group was 13.65 (P<0.003). CONCLUSION: The number of citations and the quality of reporting of clinical trials in Brazilian journals of ophthalmology still are low when compared with the foreign journals of ophthalmology with highest Impact Factor®.

Atividade fisica e sintomas musculo-esqueleticos : explorando relações em população de calouros de medicina

Universidade Estadual de Campinas. Faculdade de Educação Física

A century of research: what have we learned about the interaction of Trypanosoma cruzi with host cells?

Since the discovery of Trypanosoma cruzi and the brilliant description of the then-referred to "new tripanosomiasis" by Carlos Chagas 100 years ago, a great deal of scientific effort and curiosity has been devoted to understanding how this parasite invades and colonises mammalian host cells. This is a key step in the survival of the parasite within the vertebrate host, and although much has been learned over this century, differences in strains or isolates used by different laboratories may have led to conclusions that are not as universal as originally interpreted. Molecular genotyping of the CL-Brener clone confirmed a genetic heterogeneity in the parasite that had been detected previously by other techniques, including zymodeme or schizodeme (kDNA) analysis. T. cruzi can be grouped into at least two major phylogenetic lineages: T. cruzi I, mostly associated with the sylvatic cycle and T. cruzi II, linked to human disease; however, a third lineage, T. cruziIII, has also been proposed. Hybrid isolates, such as the CL-Brener clone, which was chosen for sequencing the genome of the parasite (Elias et al. 2005, El Sayed et al. 2005a), have also been identified. The parasite must be able to invade cells in the mammalian host, and many studies have implicated the flagellated trypomastigotes as the main actor in this process. Several surface components of parasites and some of the host cell receptors with which they interact have been described. Herein, we have attempted to identify milestones in the history of understanding T. cruzi- host cell interactions. Different infective forms of T. cruzi have displayed unexpected requirements for the parasite to attach to the host cell, enter it, and translocate between the parasitophorous vacuole to its final cytoplasmic destination. It is noteworthy that some of the mechanisms originally proposed to be broad in function turned out not to be universal, and multiple interactions involving different repertoires of molecules seem to act in concert to give rise to a rather complex interplay of signalling cascades involving both parasite and cellular components.

The relationship between birth weight and insulin resistance in childhood

Chronic diseases that are typical of adulthood may originate in intra-uterine life through inadequate fetal development. The present epidemiological cohort study of 506 healthy children aged 5\20138 years evaluated the relationship between birth weight and insulin resistance in an age group that has been assessed in few similar studies. Insulin concentration was determined by chemiluminescence and insulin resistance by the homeostasis model assessment (HOMA). Blood glucose, total cholesterol and fractions (LDL cholesterol and HDL cholesterol) and TAG concentrations were determined by automated enzymatic methods. Linear regression analysis investigated the relationship between birth weight (assessed as a continuous variable and in three categories: small for gestational age, SGA; adequate for gestational age and large for gestational age) and the HOMA index, using backward stepwise selection and biological models to explain the causal pathway of the relationship. There were negativeassociations between birth weight (P < 0·001), SGA (P = 0·027) and the HOMA index, and a positive association between waist circumference (P < 0·001) and the HOMA index. Considering the significant associations between birth weight and waist circumference (P < 0·001) and waist circumference and insulin resistance (P < 0·001), we can probably suspect that lower birth weight is a common cause of higher waist circumference and insulin resistance. In summary, the results of the present study showed increased insulin resistance in apparently healthy, young children, who had lower weight at birth and higher measurements of waist circumference. There is a need to develop public health policies that adopt preventive measures to promote adequate maternal-fetal and child development and enable early diagnosis of metabolic abnormalities