CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.

Science.gov (United States)

Wong, Virginia Chun-Nei; Kwong, Anna Ka-Yee

2015-04-01

A Chinese boy presented at 18 months with intractable epilepsy, developmental delay and autistic features. He had multiple seizure types, including absence, myoclonic seizures, limb spasm and tonic seizures. His seizures were finally controlled at 3 years of age with clonazepam and a short course of chloral hydrate incidentally given for his insomnia. Subsequently, he had improvement in his communication skills. A novel hemizygous missense variant (c.1649G>A; p.R550Q) in exon 12 of CDKL5 gene was detected for him, his asymptomatic mother and elder sister. His phenotype is less severe than other male cases. We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE). Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

Energy Technology Data Exchange (ETDEWEB)

Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

1995-12-04

The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

15N NMR studies of layered nitride superconductor LixZrNCl

International Nuclear Information System (INIS)

Tou, H.; Oshiro, S.; Kotegawa, H.; Taguchi, Y.; Kishiume, Y.; Kasahara, Y.; Iwasa, Y.

2010-01-01

NMR measurements were carried out on pristine ZrNCl and Li x ZrNCl. From the 15 N-Knight shift study, the isotropic Knight shift, the traceless chemical (orbital) shift tensor and the traceless Knight shift tensor were determined as K iso = -71 ppm, (σ 1 , σ 2 , σ 3 ) = (-55, -55, 110) ppm and (K 1 , K 2 , K 3 ) = (48, 48, -96) ppm, respectively. In the superconducting state, the fractional change of the 15 N NMR shift for H-parallel ab was observed, evidencing that the pairing symmetry is a spin-singlet state.

Late onset Pompe disease- new genetic variant: Case report ...

African Journals Online (AJOL)

The patient was not given enzyme replacement therapy due to cost but received high protein therapy and Oxygen supplementation using Oxygen extractor machine. She is worsening due to respiratory failure. Conclusion: This is a new genetic variant isolated of late-onset Pompe disease which presents with almost pure ...

Involvement of the mitochondrial compartment in human NCL fibroblasts

International Nuclear Information System (INIS)

Pezzini, Francesco; Gismondi, Floriana; Tessa, Alessandra; Tonin, Paola; Carrozzo, Rosalba; Mole, Sara E.; Santorelli, Filippo M.; Simonati, Alessandro

2011-01-01

Highlights: ► Mitochondrial reticulum fragmentation occurs in human CLN1 and CLN6 fibroblasts. ► Likewise mitochondrial shift-to periphery and decreased mitochondrial density are seen. ► Enhanced caspase-mediated apoptosis occurs following STS treatment in CLN1 fibroblasts. -- Abstract: Neuronal ceroid lipofuscinosis (NCL) are a group of progressive neurodegenerative disorders of childhood, characterized by the endo-lysosomal storage of autofluorescent material. Impaired mitochondrial function is often associated with neurodegeneration, possibly related to the apoptotic cascade. In this study we investigated the possible effects of lysosomal accumulation on the mitochondrial compartment in the fibroblasts of two NCL forms, CLN1 and CLN6. Fragmented mitochondrial reticulum was observed in all cells by using the intravital fluorescent marker Mitotracker, mainly in the perinuclear region. This was also associated with intense signal from the lysosomal markers Lysotracker and LAMP2. Likewise, mitochondria appeared to be reduced in number and shifted to the cell periphery by electron microscopy; moreover the mitochondrial markers VDCA and COX IV were reduced following quantitative Western blot analysis. Whilst there was no evidence of increased cell death under basal condition, we observed a significant increase in apoptotic nuclei following Staurosporine treatment in CLN1 cells only. In conclusion, the mitochondrial compartment is affected in NCL fibroblasts invitro, and CLN1 cells seem to be more vulnerable to the negative effects of stressed mitochondrial membrane than CLN6 cells.

Progressive retinal degeneration and glial activation in the CLN6 (nclf mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation.

Directory of Open Access Journals (Sweden)

Myriam Mirza

Full Text Available Neuronal ceroid lipofuscinosis (NCL is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures. Neuropathological analyses of autopsy material from NCL patients and animal models revealed brain atrophy closely associated with glial activity. Earlier reports also noticed loss of retinal cells and reactive gliosis in some forms of NCL. To study this phenomenon in detail, we analyzed the ocular phenotype of CLN6 (nclf mice, an established mouse model for variant-late infantile NCL. Retinal morphometry, immunohistochemistry, optokinetic tracking, electroretinography, and mRNA expression were used to characterize retinal morphology and function as well as the responses of Müller cells and microglia. Our histological data showed a severe and progressive degeneration in the CLN6 (nclf retina co-inciding with reactive Müller glia. Furthermore, a prominent phenotypic transformation of ramified microglia to phagocytic, bloated, and mislocalized microglial cells was identified in CLN6 (nclf retinas. These events overlapped with a rapid loss of visual perception and retinal function. Based on the strong microglia reactivity we hypothesized that dietary supplementation with immuno-regulatory compounds, curcumin and docosahexaenoic acid (DHA, could ameliorate microgliosis and reduce retinal degeneration. Our analyses showed that treatment of three-week-old CLN6 (nclf mice with either 5% DHA or 0.6% curcumin for 30 weeks resulted in a reduced number of amoeboid reactive microglia and partially improved retinal function. DHA-treatment also improved the morphology of CLN6 (nclf retinas with a preserved thickness of the photoreceptor layer in most regions of the retina. Our results suggest that microglial reactivity closely accompanies disease progression in the CLN6 (nclf retina and both processes can be attenuated with dietary supplemented immuno-modulating compounds.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Science.gov (United States)

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

2017-02-02

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10 -14 ). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Copyright © 2017 American Society of Human Genetics. All rights reserved.

Ncl Synchronously Regulates Na+, K+, and Cl- in Soybean and Greatly Increases the Grain Yield in Saline Field Conditions.

Science.gov (United States)

Do, Tuyen Duc; Chen, Huatao; Hien, Vu Thi Thu; Hamwieh, Aladdin; Yamada, Tetsuya; Sato, Tadashi; Yan, Yongliang; Cong, Hua; Shono, Mariko; Suenaga, Kazuhiro; Xu, Donghe

2016-01-08

Salt stress inhibits soybean growth and reduces gain yield. Genetic improvement of salt tolerance is essential for sustainable soybean production in saline areas. In this study, we isolated a gene (Ncl) that could synchronously regulate the transport and accumulation of Na(+), K(+), and Cl(-) from a Brazilian soybean cultivar FT-Abyara using map-based cloning strategy. Higher expression of the salt tolerance gene Ncl in the root resulted in lower accumulations of Na(+), K(+), and Cl(-) in the shoot under salt stress. Transfer of Ncl with the Agrobacterium-mediated transformation method into a soybean cultivar Kariyutaka significantly enhanced its salt tolerance. Introgression of the tolerance allele into soybean cultivar Jackson, using DNA marker-assisted selection (MAS), produced an improved salt tolerance line. Ncl could increase soybean grain yield by 3.6-5.5 times in saline field conditions. Using Ncl in soybean breeding through gene transfer or MAS would contribute to sustainable soybean production in saline-prone areas.

Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases Ceróide-lipofuscinose neuronal, um tipo de idiotia amaurótica familiar: estudo clínico-patológico de quatro casos

Directory of Open Access Journals (Sweden)

Luciano de Souza Queiroz

1974-03-01

Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.Estudos histoquímicos, bioquímicos e ultraestruturais permitiram recentemente distinguir dois tipos de entidades nosológicas dentre as doenças conhecidas como "Idiotia amaurótica familiar" (IAF. O primeiro, que inclue a doença de Tay-Sachs, ou tipo infantil de IAF, é constituido por doenças de armazenamento de gangliósides. Sua patogenia é conhecida, baseando-se em deficiências de enzimas lisossômicos. O segundo grupo, cuja patogenia é desconhecida, foi recentemente designado "Ceróide-lipofuscinose neuronal" (CLN por Zeman e colaboradores. Corresponde aos tipos infantil tardio, juvenil e adulto de IAF, caracterizando-se histopatologicamente pelo ac

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.

Directory of Open Access Journals (Sweden)

Anne Wöhlke

2011-10-01

Full Text Available Neuronal ceroid lipofuscinosis (NCL is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form of NCL manifesting first visible signs at 5-7 years of age. Genome-wide association analyses for 12 Tibetan-terrier-NCL-cases and 7 Tibetan-terrier controls using the 127K canine Affymetrix SNP chip and mixed model analysis mapped NCL to dog chromosome (CFA 2 at 83.71-84.72 Mb. Multipoint linkage and association analyses in 376 Tibetan terriers confirmed this genomic region on CFA2. A mutation analysis for 14 positional candidate genes in two NCL-cases and one control revealed a strongly associated single nucleotide polymorphism (SNP in the MAPK PM20/PM21 gene and a perfectly with NCL associated single base pair deletion (c.1620delG within exon 16 of the ATP13A2 gene. The c.1620delG mutation in ATP13A2 causes skipping of exon 16 presumably due to a broken exonic splicing enhancer motif. As a result of this mutation, ATP13A2 lacks 69 amino acids. All known 24 NCL cases were homozygous for this deletion and all obligate 35 NCL-carriers were heterozygous. In a sample of 144 dogs from eleven other breeds, the c.1620delG mutation could not be found. Knowledge of the causative mutation for late-onset NCL in Tibetan terrier allows genetic testing of these dogs to avoid matings of carrier animals. ATP13A2 mutations have been described in familial Parkinson syndrome (PARK9. Tibetan terriers with these mutations provide a valuable model for a PARK9-linked disease and possibly for manganese toxicity in synucleinopathies.

Hand activities in infantile masturbation: a video analysis of 13 cases.

Science.gov (United States)

Hansen, Jonas Kjeldbjerg; Balslev, Thomas

2009-11-01

Infantile masturbation is considered a variant of normal behaviour. The abrupt and spontaneous onset, altered sensorium and autonomic phenomena during episodes may suggest an epileptic fit. Therefore, children with infantile masturbation are often admitted to hospital and undergo unnecessary tests. The purpose of the present study was to provide a detailed description of hand activities in infantile masturbation. The authors reviewed video recordings of 2 boys and 11 girls with infantile masturbation. Position, movements and activities of hands and fingers during episodes were registered. Five patterns of hand activities were registered: Fisting (four infants), grasping of toys, furniture or clothing (ten infants), chorea-like "piano playing" hand movements (two infants), pressure over the diaper/genital region (one infant) and bimanual manipulation of items (four infants). Fisting was primarily observed in the younger infants, and bimanual manipulation was primarily seen in the older infants. Recognizing one or more of the five distinct patterns of hand activities in infantile masturbation may help establishing the diagnosis.

Infantile Onset Myasthenia Gravis with MuSK Antibodies

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2006-08-01

Full Text Available A late infantile case of myasthenia gravis (MG with anti-muscle-specific receptor tyrosine kinase (MuSK high antibody (Ab titer is reported from Kyushu University, Fukuoka; and Nagasaki University, Japan.

An inducible mouse model of late onset Tay-Sachs disease.

Science.gov (United States)

Jeyakumar, Mylvaganam; Smith, David; Eliott-Smith, Elena; Cortina-Borja, Mario; Reinkensmeier, Gabriele; Butters, Terry D; Lemm, Thorsten; Sandhoff, Konrad; Perry, V Hugh; Dwek, Raymond A; Platt, Frances M

2002-08-01

Mouse models of the G(M2) gangliosidoses, Tay-Sachs and Sandhoff disease, are null for the hexosaminidase alpha and beta subunits respectively. The Sandhoff (Hexb-/-) mouse has severe neurological disease and mimics the human infantile onset variant. However, the Tay-Sachs (Hexa-/-) mouse model lacks an overt phenotype as mice can partially bypass the blocked catabolic pathway and escape disease. We have investigated whether a subset of Tay-Sachs mice develop late onset disease. We have found that approximately 65% of the mice develop one or more clinical signs of the disease within their natural life span (n = 52, P disease at an earlier age (n = 21, P Tay-Sachs mice confirmed that pregnancy induces late onset Tay-Sachs disease. Onset of symptoms correlated with reduced up-regulation of hexosaminidase B, a component of the bypass pathway.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Directory of Open Access Journals (Sweden)

Mohammad K. Eldomery

2016-11-01

Full Text Available Abstract Background Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. Methods Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC, developmental delay (DD, seizures, and severe hypotonia. Proposed pathogenic variants were confirmed by Sanger sequencing or array comparative genomic hybridization. Functional analysis of the identified MIP variants was performed using the model organism Saccharomyces cerevisiae as the protein and its functions are highly conserved from yeast to human. Results Biallelic single nucleotide variants (SNVs or copy number variants (CNVs in MIPEP, which encodes MIP, were present in all four probands, three of whom had infantile/childhood death. Two patients had compound heterozygous SNVs (p.L582R/p.L71Q and p.E602*/p.L306F and one patient from a consanguineous family had a homozygous SNV (p.K343E. The fourth patient, identified through the GeneMatcher tool, a part of the Matchmaker Exchange Project, was found to have inherited a paternal SNV (p.H512D and a maternal CNV (1.4-Mb deletion of 13q12.12 that includes MIPEP. All amino acids affected in the patients’ missense variants are highly conserved from yeast to human and therefore S. cerevisiae was employed for functional analysis (for p.L71Q, p.L306F, and p.K343E. The mutations p.L339F (human p.L306F and p.K376E (human p.K343E resulted in a severe decrease of Oct1 protease activity and accumulation of non-processed Oct1 substrates and consequently impaired viability under respiratory growth conditions. The p.L83Q (human p.L71Q failed to localize to the mitochondria. Conclusions Our findings reveal for the first

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

Science.gov (United States)

Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Pöyhönen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E; Kuismin, Outi; Kurki, Mitja I; Anttonen, Anna-Kaisa; Tanaka, Keiji; Palotie, Aarno; Waguri, Satoshi; Lehesjoki, Anna-Elina; Komatsu, Masaaki

2016-09-01

The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily conserved ubiquitin-like modification system whose function and link to human disease have remained largely uncharacterized. By using exome sequencing in Finnish individuals with severe epileptic syndromes, we identified pathogenic compound heterozygous variants in UBA5, encoding an activating enzyme for UFM1, in two unrelated families. Two additional individuals with biallelic UBA5 variants were identified from the UK-based Deciphering Developmental Disorders study and one from the Northern Finland Intellectual Disability cohort. The affected individuals (n = 9) presented in early infancy with severe irritability, followed by dystonia and stagnation of development. Furthermore, the majority of individuals display postnatal microcephaly and epilepsy and develop spasticity. The affected individuals were compound heterozygous for a missense substitution, c.1111G>A (p.Ala371Thr; allele frequency of 0.28% in Europeans), and a nonsense variant or c.164G>A that encodes an amino acid substitution p.Arg55His, but also affects splicing by facilitating exon 2 skipping, thus also being in effect a loss-of-function allele. Using an in vitro thioester formation assay and cellular analyses, we show that the p.Ala371Thr variant is hypomorphic with attenuated ability to transfer the activated UFM1 to UFC1. Finally, we show that the CNS-specific knockout of Ufm1 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further suggesting that the UFM1 system is essential for CNS development and function. Taken together, our data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-function allele in UBA5 underlies a severe infantile-onset encephalopathy. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

A Genetic Cascade of let-7-ncl-1-fib-1 Modulates Nucleolar Size and rRNA Pool in Caenorhabditis elegans.

Directory of Open Access Journals (Sweden)

Yung-Hsiang Yi

2015-10-01

Full Text Available Ribosome biogenesis takes place in the nucleolus, the size of which is often coordinated with cell growth and development. However, how metazoans control nucleolar size remains largely unknown. Caenorhabditis elegans provides a good model to address this question owing to distinct tissue distribution of nucleolar sizes and a mutant, ncl-1, which exhibits larger nucleoli than wild-type worms. Here, through a series of loss-of-function analyses, we report that the nucleolar size is regulated by a circuitry composed of microRNA let-7, translation repressor NCL-1, and a major nucleolar pre-rRNA processing protein FIB-1/fibrillarin. In cooperation with RNA binding proteins PUF and NOS, NCL-1 suppressed the translation of FIB-1/fibrillarin, while let-7 targeted the 3'UTR of ncl-1 and inhibited its expression. Consequently, the abundance of FIB-1 is tightly controlled and correlated with the nucleolar size. Together, our findings highlight a novel genetic cascade by which post-transcriptional regulators interplay in developmental control of nucleolar size and function.

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

Directory of Open Access Journals (Sweden)

Staropoli John F

2012-06-01

Full Text Available Abstract Background The neuronal ceroid lipofuscinoses (NCLs, or Batten disease comprise the most common Mendelian form of childhood-onset neurodegeneration, but the functions of the known underlying gene products remain poorly understood. The clinical heterogeneity of these disorders may shed light on genetic interactors that modify disease onset and progression. Case presentation We describe a proband with congenital hypotonia and an atypical form of infantile-onset, biopsy-proven NCL. Pathologic and molecular work-up of this patient identified CLN5 mutations as well as a mutation―previously described as incompletely penetrant or a variant of unknown significance―in POLG1, a nuclear gene essential for maintenance of mitochondrial DNA (mtDNA copy number. The congenital presentation of this patient is far earlier than that described for either CLN5 patients or affected carriers of the POLG1 variant (c.1550 G > T, p.Gly517Val. Assessment of relative mtDNA copy number and mitochondrial membrane potential in the proband and control subjects suggested a pathogenic effect of the POLG1 change as well as a possible functional interaction with CLN5 mutations. Conclusions These findings suggest that an incompletely penetrant variant in POLG1 may modify the clinical phenotype in a case of CLN5 and are consistent with emerging evidence of interactions between NCL-related genes and mitochondrial physiology.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Directory of Open Access Journals (Sweden)

Carlos Cruchaga

Full Text Available Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD. Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7% carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28 or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26. Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS.

Lipofuscinose ceróide neuronal: achados clínicos e neurorradiológicos Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings

Directory of Open Access Journals (Sweden)

Rômulo Lopes Gama

2007-06-01

Full Text Available Lipofuscinose ceróide neuronal (LCN constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de outros casos na família. Os achados de imagem podem contribuir no diagnóstico diferencial.The neuronal ceroid lipofuscinoses (NCL are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation - Fortaleza - Ceará - Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of

Inheritance of late flowering in natural variants of soybean cultivars under short-day conditions

Directory of Open Access Journals (Sweden)

Valeria Carpentieri-Pipolo

2014-10-01

Full Text Available The objective of this work was to determine the inheritance of the long juvenile period trait in natural variants of the Doko, BR 9 (Savana, Davis, Embrapa 1 (IAS 5RC, and BR 16 soybean cultivars. Complete diallel crosses were made between the Doko and BR 16 cultivars and their variants. A 3:1 segregation ratio was observed in the F2 populations of the 'Doko' x Doko-18T, 'Doko' x Doko-Milionária, 'Davis' x São Carlos, and 'BR 9 (Savana' x MABR92-836 (Savanão crosses, indicating that the long juvenile period trait is controlled by a pair of recessive genes. The difference in late flowering between the Doko cultivar and both of its variants was caused by a recessive spontaneous mutation at the same genetic locus. However, the variants Doko-18T and Doko-Milionária are identical mutants that share a pair of genes that control the long juvenile period under short-day conditions. These mutants can be used in breeding programs to develop cultivars adapted to low-latitude tropical regions.

Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

Science.gov (United States)

Woody, April L; Hsieh, David T; McIver, Harkirtin K; Thomas, Linda P; Rohena, Luis

2015-04-01

Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes EIF2B1-5, which encode for the 5 subunits of the eukaryotic initiation factor 2B (eIF2B), a regulator of protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent progressive neurological and cognitive regression. There is a varied clinical spectrum of VWM, with earlier onset associated with more severe phenotypes. Brain magnetic resonance imaging is usually diagnostic with diffusely abnormal white matter, progressing over time to cystic degeneration. We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12. In addition, our case is unusual because of a severe epilepsy course, a novel clinical finding of hypopituitarism manifested by hypothyroidism and adrenal insufficiency, and a prolonged life span with current age of survival of 4 years and 11 months. © 2015 Wiley Periodicals, Inc.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

Science.gov (United States)

Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C; Hornemann, Thorsten; Ylikallio, Emil

2016-03-01

Hereditary sensory and autonomic neuropathy 1 (HSAN1) is an autosomal dominant disorder that can be caused by variants in SPTLC1 or SPTLC2, encoding subunits of serine palmitoyl-CoA transferase. Disease variants alter the enzyme's substrate specificity and lead to accumulation of neurotoxic 1-deoxysphingolipids. We describe two families with autosomal dominant HSAN1C caused by a new variant in SPTLC2, c.547C>T, p.(Arg183Trp). The variant changed a conserved amino acid and was not found in public variant databases. All patients had a relatively mild progressive distal sensory impairment, with onset after age 50. Small fibers were affected early, leading to abnormalities on quantitative sensory testing. Sural biopsy revealed a severe chronic axonal neuropathy with subtotal loss of myelinated axons, relatively preserved number of non-myelinated fibers and no signs for regeneration. Skin biopsy with PGP9.5 labeling showed lack of intraepidermal nerve endings early in the disease. Motor manifestations developed later in the disease course, but there was no evidence of autonomic involvement. Patients had elevated serum 1-deoxysphingolipids, and the variant protein produced elevated amounts of 1-deoxysphingolipids in vitro, which proved the pathogenicity of the variant. Our results expand the genetic spectrum of HSAN1C and provide further detail about the clinical characteristics. Sequencing of SPTLC2 should be considered in all patients presenting with mild late-onset sensory-predominant small or large fiber neuropathy.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.

LENUS (Irish Health Repository)

Arsov, Todor

2011-05-13

The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final diagnosis. We mapped four families with Kufs disease for whom there was good evidence of autosomal-recessive inheritance and found two peaks on chromosome 15. Three of the families were affected by Kufs type A disease and presented with progressive myoclonus epilepsy, and one was affected by type B (presenting with dementia and motor system dysfunction). Sequencing of a candidate gene in one peak shared by all four families identified no mutations, but sequencing of CLN6, found in the second peak and shared by only the three families affected by Kufs type A disease, revealed pathogenic mutations in all three families. We subsequently sequenced CLN6 in eight other families, three of which were affected by recessive Kufs type A disease. Mutations in both CLN6 alleles were found in the three type A cases and in one family affected by unclassified Kufs disease. Mutations in CLN6 are the major cause of recessive Kufs type A disease. The phenotypic differences between variant late-infantile NCL, previously found to be caused by CLN6, and Kufs type A disease are striking; there is a much later age at onset and lack of visual involvement in the latter. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Science.gov (United States)

Hirz, M; Drögemüller, M; Schänzer, A; Jagannathan, V; Dietschi, E; Goebel, H H; Hecht, W; Laubner, S; Schmidt, M J; Steffen, F; Hilbe, M; Köhler, K; Drögemüller, C; Herden, C

2017-03-01

Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. Case 1, a 2-year-old male Alpenländische Dachsbracke was presented with neurological signs including disorientation, character changes including anxiety states and aggressiveness, sudden blindness and reduction of food intake. Magnetic resonance imaging (MRI) scans showed cerebral atrophy with dilation of all cerebral ventricles, thinning of the intermediate mass of the thalamus and widening of the cerebral sulci. Postmortem examination of the central nervous system (CNS) showed neuronal loss in the cerebral cortex, cerebellum and spinal cord with massive intracellular deposits of ceroid pigment. Additional ceroid-lipofuscin deposits were observed in the enteric nervous system and in macrophages within spleen, lymph nodes and lung. Ultrastructural analyses confirmed NCL with the presence of osmiophilic membrane bounded lamellar-like structures. Case 2, a 1,5-year old female Alpenländische Dachsbracke was presented with progressive generalized forebrain disease including mental changes such as fearful reactions to various kinds of external stimuli and disorientation. The dog also displayed seizures, absence of menace reactions and negative cotton-ball test with normal pupillary light reactions. The clinical and post mortem examination yielded similar results in the brain as in Case 1. Whole genome sequencing of Case 1 and PCR results of both cases revealed a homozygous deletion encompassing the entire CLN8 gene as the most likely causative mutation for the NCL form

Late-onset Alzheimer's risk variants in memory decline, incident mild cognitive impairment, and Alzheimer's disease.

Science.gov (United States)

Carrasquillo, Minerva M; Crook, Julia E; Pedraza, Otto; Thomas, Colleen S; Pankratz, V Shane; Allen, Mariet; Nguyen, Thuy; Malphrus, Kimberly G; Ma, Li; Bisceglio, Gina D; Roberts, Rosebud O; Lucas, John A; Smith, Glenn E; Ivnik, Robert J; Machulda, Mary M; Graff-Radford, Neill R; Petersen, Ronald C; Younkin, Steven G; Ertekin-Taner, Nilüfer

2015-01-01

We tested association of nine late-onset Alzheimer's disease (LOAD) risk variants from genome-wide association studies (GWAS) with memory and progression to mild cognitive impairment (MCI) or LOAD (MCI/LOAD) in older Caucasians, cognitively normal at baseline and longitudinally evaluated at Mayo Clinic Rochester and Jacksonville (n>2000). Each variant was tested both individually and collectively using a weighted risk score. APOE-e4 associated with worse baseline memory and increased decline with highly significant overall effect on memory. CLU-rs11136000-G associated with worse baseline memory and incident MCI/LOAD. MS4A6A-rs610932-C associated with increased incident MCI/LOAD and suggestively with lower baseline memory. ABCA7-rs3764650-C and EPHA1-rs11767557-A associated with increased rates of memory decline in subjects with a final diagnosis of MCI/LOAD. PICALM-rs3851179-G had an unexpected protective effect on incident MCI/LOAD. Only APOE-inclusive risk scores associated with worse memory and incident MCI/LOAD. The collective influence of the nine top LOAD GWAS variants on memory decline and progression to MCI/LOAD appears limited. Discovery of biologically functional variants at these loci may uncover stronger effects on memory and incident disease. Copyright © 2015 Elsevier Inc. All rights reserved.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Science.gov (United States)

Owen, David; Töpf, Ana; Preethish-Kumar, Veeramani; Lorenzoni, Paulo José; Vroling, Bas; Scola, Rosana Herminia; Dias-Tosta, Elza; Geraldo, Argemiro; Polavarapu, Kiran; Nashi, Saraswati; Cox, Daniel; Evangelista, Teresinha; Dawson, John; Thompson, Rachel; Senderek, Jan; Laurie, Steven; Beltran, Sergi; Gut, Marta; Gut, Ivo; Nalini, Atchayaram; Lochmüller, Hanns

2018-04-28

Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c.1634T > C; p.L545P found in compound heterozygosis with p.R166*. The reported patients had predominant limb girdle weakness with symptom onset at 12, 17, 18, and 30 years of age, and the majority exhibited a good clinical response to Salbutamol therapy, but not to esterase inhibitors. Meta-analysis including previously reported variants revealed an increased likelihood of a severe, respiratory phenotype with null alleles. Missense variants exclusively affecting the kinase domain, but not the catalytic site, are associated with late onset. These data refine the phenotype associated with MuSK-related CMS. © 2018 Wiley Periodicals, Inc.

Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype

Directory of Open Access Journals (Sweden)

Elizabeth Maria Aparecida Barasnevicius Quagliato

Full Text Available ABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.

Removal of Arsenic, Iron, Manganese, and Ammonia in Drinking Water: Nagaoka International Corporation CHEMILES NCL Series Water Treatment System

Science.gov (United States)

The Nagaoka International Corporation CHEMILES NCL Series system was tested to verify its performance for the reduction of multiple contaminants including: arsenic, ammonia, iron, and manganese. The objectives of this verification, as operated under the conditions at the test si...

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

NARCIS (Netherlands)

Allen, Andrew S.; Berkovic, Samuel F.; Bridgers, Joshua; Cossette, Patrick; Dlugos, Dennis; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Heinzen, Erin L.; Jiang, Yu; Johnson, Michael R.; Kuzniecky, Ruben; Lowenstein, Daniel H.; Marson, Anthony G.; Mefford, Heather C.; O'Brien, Terence J.; Ottman, Ruth; Petrou, Steven; Petrovski, Slavé; Poduri, Annapurna; Ren, Zhong; Scheffer, Ingrid E.; Sherr, Elliott; Wang, Quanli; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna A.; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Møller, Rikke S.; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Rosenow, Felix; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay M.; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weber, Yvonne G.; Weckhuysen, Sarah; Zara, Federico; Abou-Khalil, Bassel; Alldredge, Brian K.; Amrom, Dina; Andermann, Eva; Andermann, Frederick; Bautista, Jocelyn F.; Bluvstein, Judith; Cascino, Gregory D.; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Fiol, Miguel E.; Fountain, Nathan B.; French, Jacqueline; Friedman, Daniel; Haas, Kevin; Haut, Sheryl R.; Hayward, Jean; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E.; Kossoff, Eric H.; Kuperman, Rachel; McGuire, Shannon M.; Motika, Paul V.; Novotny, Edward J.; Paolicchi, Juliann M.; Parent, Jack; Park, Kristen; Shellhaas, Renée A; Sirven, Joseph; Smith, Michael C.; Sullivan, Joseph; Thio, Liu Lin; Venkat, Anu; Vining, Eileen P. G.; Von Allmen, Gretchen K.; Weisenberg, Judith L.; Widdess-Walsh, Peter; Winawer, Melodie R.

2017-01-01

The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients

Natural History of Infantile GM2 Gangliosidosis

Science.gov (United States)

Bley, Annette E.; Giannikopoulos, Ourania A.; Hayden, Doug; Kubilus, Kim; Tifft, Cynthia J.

2011-01-01

OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in infantile GM2 gangliosidosis on the basis of patient surveys and a comprehensive review of existing literature. METHODS: Patients with infantile GM2 gangliosidosis (N = 237) were surveyed via questionnaire by the National Tay Sachs & Allied Diseases Association (NTSAD). These data were supplemented by survival data from the NTSAD database and a literature survey. Detailed retrospective surveys from 97 patients were available. Five patients who had received hematopoietic stem cell transplantation were evaluated separately. The mortality rate of the remaining 92 patients was comparable to that of the 103 patients from the NTSAD database and 121 patients reported in the literature. RESULTS: Common symptoms at onset were developmental arrest (83%), startling (65%), and hypotonia (60%). All 55 patients who had learned to sit without support lost that ability within 1 year. Individual functional measures correlated with each other but not with survival. Gastric tube placement was associated with prolonged survival. Tay Sachs and Sandhoff variants did not differ. Hematopoietic stem cell transplantation was not associated with prolonged survival. CONCLUSIONS: We studied the timing of regression in 97 cases of infantile GM2 gangliosidosis and conclude that clinical disease progression does not correlate with survival, likely because of the impact of improved supportive care over time. However, functional measures are quantifiable and can inform power calculations and study design of future interventions. PMID:22025593

Literatura infantil sobre problemas infantiles: la diabetes

OpenAIRE

Lázaro Fernández, Patricia

2015-01-01

Debido al creciente número de casos de diabetes infantil que se está dando en la sociedad actual, no es raro encontrarse en las aulas cada vez más casos de esta enfermedad. Por esta razón, he decidido analizar dos libros sobre esta temática, para hacer un acercamiento del material seleccionado a las aulas y poder desarrollar junto con los niños un aprendizaje colectivo y cooperativo. En este trabajo se expone la importancia de la literatura y la literatura infantil como una ...

Evolution of gap anisotropy with doping carriers in LixZrNCl superconductors

International Nuclear Information System (INIS)

Kasahara, Y.; Kishiume, T.; Takano, T.; Kobayashi, K.; Matsuoka, E.; Onodera, H.; Kuroki, K.; Taguchi, Y.; Iwasa, Y.

2010-01-01

We have performed specific heat measurements on the electron-doped layered Li x ZrNCl superconductors with systematically controlled x. It has been found that, at the lowest doping x ∼ 0.07, field dependence of the electronic specific heat γ(H) exhibits almost linear increase up to the upper critical field H c2 . Contrastingly, at higher doping (x > 0.10), γ(H) shows steep increase well below H c2 . These results indicate that the anisotropy of the superconducting gap evolves with increasing carrier density, in accord with a prediction by very recent theoretical calculation that takes into account Coulomb interactions in a doped band insulator with honeycomb lattice.

Genetisk udredning ved infantile spasmer

DEFF Research Database (Denmark)

Hansen, Lars Kjærsgaard; Ousager, Lilian Bomme; Møller, Rikke Steensbjerre

2012-01-01

Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the fi......Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH...

Infantilism: Theoretical Construct and Operationalization

Science.gov (United States)

Sabelnikova, Y. V.; Khmeleva, N. L.

2018-01-01

The aim of this article is to define and operationalize the construct of infantilism. The methods of theoretical research involve analysis and synthesis. Age and content criteria are analyzed for childhood and adulthood. Infantile traits in an adult are described. Results: The characteristics of adult infantilism in the modern world are defined,…

Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum

Directory of Open Access Journals (Sweden)

Jonathan E. Phillips

2015-02-01

Full Text Available Neuronal ceroid lipofuscinosis (NCL is the most common childhood-onset neurodegenerative disease. NCL is inevitably fatal, and there is currently no treatment available. Children with NCL show a progressive decline in movement, vision and mental abilities, and an accumulation of autofluorescent deposits in neurons and other cell types. Late-infantile NCL is caused by mutations in the lysosomal protease tripeptidyl peptidase 1 (TPP1. TPP1 cleaves tripeptides from the N-terminus of proteins in vitro, but little is known about the physiological function of TPP1. TPP1 shows wide conservation in vertebrates but it is not found in Drosophila, Caenorhabditis elegans or Saccharomyces cerevisiae. Here, we characterize ddTpp1, a TPP1 ortholog present in the social amoeba Dictyostelium discoideum. Lysates from cells lacking ddTpp1 show a reduced but not abolished ability to cleave a TPP1 substrate, suggesting that other Dictyostelium enzymes can perform this cleavage. ddTpp1 and human TPP1 localize to the lysosome in Dictyostelium, indicating conserved function and trafficking. Cells that lack ddTpp1 show precocious multicellular development and a reduced ability to form spores during development. When cultured in autophagy-stimulating conditions, cells lacking ddTpp1 rapidly decrease in size and are less viable than wild-type cells, suggesting that one function of ddTpp1 could be to limit autophagy. Cells that lack ddTpp1 exhibit strongly impaired development in the presence of the lysosome-perturbing drug chloroquine, and this phenotype can be suppressed through a secondary mutation in the gene that we name suppressor of tpp1− A (stpA, which encodes a protein with some similarity to mammalian oxysterol-binding proteins (OSBPs. Taken together, these results suggest that targeting specific proteins could be a viable way to suppress the effects of loss of TPP1 function.

Possession of ATM Sequence Variants as Predictor for Late Normal Tissue Responses in Breast Cancer Patients Treated With Radiotherapy

International Nuclear Information System (INIS)

Ho, Alice Y.; Fan, Grace; Atencio, David P.; Green, Sheryl; Formenti, Silvia C.; Haffty, Bruce G.; Iyengar, Preetha B.A.; Bernstein, Jonine L.; Stock, Richard G.; Cesaretti, Jamie A.; Rosenstein, Barry S.

2007-01-01

Purpose: The ATM gene product is a central component of cell cycle regulation and genomic surveillance. We hypothesized that DNA sequence alterations in ATM predict for adverse effects after external beam radiotherapy for early breast cancer. Methods and Materials: A total of 131 patients with a minimum of 2 years follow-up who had undergone breast-conserving surgery and adjuvant radiotherapy were screened for sequence alterations in ATM using DNA from blood lymphocytes. Genetic variants were identified using denaturing high performance liquid chromatography. The Radiation Therapy Oncology Group late morbidity scoring schemes for skin and subcutaneous tissues were applied to quantify the radiation-induced effects. Results: Of the 131 patients, 51 possessed ATM sequence alterations located within exons or in short intron regions flanking each exon that encompass putative splice site regions. Of these 51 patients, 21 (41%) exhibited a minimum of a Grade 2 late radiation response. In contrast, of the 80 patients without an ATM sequence variation, only 18 (23%) had radiation-induced adverse responses, for an odds ratio of 2.4 (95% confidence interval, 1.1-5.2). Fifteen patients were heterozygous for the G→A polymorphism at nucleotide 5557, which causes substitution of asparagine for aspartic acid at position 1853 of the ATM protein. Of these 15 patients, 8 (53%) exhibited a Grade 2-4 late response compared with 31 (27%) of the 116 patients without this alteration, for an odds ratio of 3.1 (95% confidence interval, 1.1-9.4). Conclusion: Sequence variants located in the ATM gene, in particular the 5557 G→A polymorphism, may predict for late adverse radiation responses in breast cancer patients

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

Directory of Open Access Journals (Sweden)

Johanna Jakobsdottir

2016-10-01

Full Text Available We performed an exome-wide association analysis in 1393 late-onset Alzheimer's disease (LOAD cases and 8141 controls from the CHARGE consortium. We found that a rare variant (P155L in TM2D3 was enriched in Icelanders (~0.5% versus <0.05% in other European populations. In 433 LOAD cases and 3903 controls from the Icelandic AGES sub-study, P155L was associated with increased risk and earlier onset of LOAD [odds ratio (95% CI = 7.5 (3.5-15.9, p = 6.6x10-9]. Mutation in the Drosophila TM2D3 homolog, almondex, causes a phenotype similar to loss of Notch/Presenilin signaling. Human TM2D3 is capable of rescuing these phenotypes, but this activity is abolished by P155L, establishing it as a functionally damaging allele. Our results establish a rare TM2D3 variant in association with LOAD susceptibility, and together with prior work suggests possible links to the β-amyloid cascade.

STM/STS measurements of the layered superconductor β-HfNCl1-x

International Nuclear Information System (INIS)

Ekino, Toshikazu; Sugimoto, Akira; Shohara, Kazuhiro; Yamanaka, Shoji; Gabovich, Alexander M.

2010-01-01

Scanning tunneling microcopy/spectroscopy (STM/STS) measurements have been carried out on SmSI (β) type HfNCl 1-x (x∼0.3) samples with T c =24K. The STM image on the cleaved surface of ab plane at 5 K clearly reveals a triangular arrangement of bright spots. The separation of the nearest-neighbor spots, 0.369 nm, is in agreement with the a lattice parameter. The STS measurements at 5 K reveal almost constant gap values 2Δ=20meV within the area of at least 10x10nm 2 , thus demonstrating a huge ratio 2Δ/k B T c =10. This ratio is very similar to that found in high-T c oxide and organic superconductors.

Recurrent infantile digital fibromatosis

African Journals Online (AJOL)

We present a case of an 8-year-old-boy with recurrent infantile digital fibromatosis (IDF) who presented with new ... Keywords: fibrous tumors, inclusion body fibromatosis, infantile digital fibromatosis, spindle cells, Reye tumor .... watch-and-wait strategy for patients with histologically confirmed IDF nodules that do not cause ...

Aspectos incomuns da paracoccidioidomicose infantil

Directory of Open Access Journals (Sweden)

Achiléa Lisboa Bittencourt

1987-12-01

Full Text Available São relatados dois casos de paracoccidioidomicose (PCM infantil. Em um deles, a principal manifestação da doença foi tumoração abdominal, simulando linfoma maligno não Hodgkin. O outro apresentou acentuado envolvimento articular, com ruptura da cápsula. Representam o segundo e terceiro casos de PCM infantil observados na Bahia, ambos procedentes de áreas urbanas.The authors present two cases of infantil para-coccidioidomycosis. In one case the main presentation was an abdominal mass that mimicked non- Hodgkin lymphoma. In the other case the child had a joint swelling with rupture of the capsule and the clinical diagnosis was piogenic arthritis. They represent the second and third cases of infantile paracoccidioidomycosis observed in the state of Bahia, all coming from urban areas.

INFANTILISM: THEORETICAL CONSTRUCT AND OPERATIONALIZATION

Directory of Open Access Journals (Sweden)

Yelena V. Sabelnikova

2016-01-01

Full Text Available The aim of the presented research is to define and operationalize theoretically the concept of infantilism and its construct. The content of theoretical construct «infantilism» is analyzed. Methods. The methods of theoretical research involve analysis and synthesis. The age and content criteria are analysed in the context of childhood and adulthood. The traits which can be interpreted as adult infantile traits are described. Results. The characteristics of adult infantilism in modern world taking into account the increasing of information flows and socio-economic changes are defined. The definition of the concept «infantilism» including its main features is given. Infantilism is defined as the personal organization including features and models of the previous age period not adequate for the real age stage with emphasis on immaturity of the emotional and volitional sphere. Scientific novelty. The main psychological characteristics of adulthood are described as the reflection, requirement to work and professional activity, existence of professional self-determination, possession of labor skills, need for selfrealization, maturity of the emotional and volitional sphere. As objective adulthood characteristics are considered the following: transition to economic and territorial independence of a parental family, and also development of new social roles, such as a worker, spouse, and parent. Two options of a possible operationalization of concept are allocated: objective (existence / absence in real human life of objective criteria of adulthood and subjective (the self-report on subjective feeling of existence / lack of psychological characteristics of adulthood. Practical significance consists in a construct operationalization of «infantilism» which at the moment has so many interpretations. That operationalization is necessary for the further analysis and carrying out various researches. 

Infantile osteopetrosis with superimposed rickets.

Science.gov (United States)

Gonen, Korcan Aysun; Yazici, Zeynep; Gokalp, Gokhan; Ucar, Ayse Kalyoncu

2013-01-01

Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important. To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature. We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary. Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.

El maltrato infantil

OpenAIRE

Mazo Toledo, María

2014-01-01

Se estudia el maltrato infantil desde sus antecedentes, así como su tipología, causas y consecuencias. Además de abordar el abuso sexual de forma más amplia. También se expone la evaluación psicológica junto con sus técnicas. Es fundamental la utilización de medidas para la prevención del maltrato infantil, pues una gran parte de los problemas en el niño se ven reflejados en su vida adulta

Photocatalytic degradation of hexadecyl trimethyl ammonium chloride C/sub 19/H/sub 42/NCl

International Nuclear Information System (INIS)

Hassan, M.U.; Anwar, J.; Saif, M.J.

2008-01-01

Surfactants in the environment are a prerequisite for the sustainable development of human health and ecosystems. Surfactants are important in daily life in households as well as in industrial cleansing processes. It is important to have a detailed knowledge about their lifetime in the environment, their biodegradability in wastewater treatment plants and in natural waters, and their ecotoxicity. Most of the issues on environmental acceptability focus on the effects on the environment associated with the use and disposal of these surfactants. These effects are taken into account by a risk assessment. The first step in a risk assessment is an estimate of the concentrations of surf act ants in the environmental compartment of interest, such as wastewater treatment plant effluents, surface waters, sediments, and soils. This estimate is generated either by actual measurement or by prediction via modelling. The measured or predicted concentrations are then compared to the concentrations of surfactant known to be toxic to organisms living in these environmental compartments. There are many situations where industry is producing both heavy metals ions and organic pollutants, Successful treatment of effluents of this type to achieve legislative compliance will depend on whether the heavy metals effect the process of degradation of the organic species and whether the presence of organic molecules hinder the process of removal of heavy metals. Degradation of cationic surfactant was studied with a photolytic cell system. Compressed air was used as oxidant and the temperature was maintained at 25-30 degree C. Effect of UV source, hydrogen peroxide (H/sub 2/O/sub 2/) and titanium (TiO/sub 2/) on Hexadecyl trimethyl ammonium Chloride C/sub 19/H/sub 42/NCl were recorded. HPLC and IR were used to analyse to study the rate of degradation of C/sub 19/H/sub 42/NCl. (author)

Effects of respiratory muscle training (RMT) in children with infantile-onset Pompe disease and respiratory muscle weakness.

Science.gov (United States)

Jones, Harrison N; Crisp, Kelly D; Moss, Tronda; Strollo, Katherine; Robey, Randy; Sank, Jeffrey; Canfield, Michelle; Case, Laura E; Mahler, Leslie; Kravitz, Richard M; Kishnani, Priya S

2014-01-01

Respiratory muscle weakness is a primary therapeutic challenge for patients with infantile Pompe disease. We previously described the clinical implementation of a respiratory muscle training (RMT) regimen in two adults with late-onset Pompe disease; both demonstrated marked increases in inspiratory and expiratory muscle strength in response to RMT. However, the use of RMT in pediatric survivors of infantile Pompe disease has not been previously reported. We report the effects of an intensive RMT program on maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) using A-B-A (baseline-treatment-posttest) single subject experimental design in two pediatric survivors of infantile Pompe disease. Both subjects had persistent respiratory muscle weakness despite long-term treatment with alglucosidase alfa. Subject 1 demonstrated negligible to modest increases in MIP/MEP (6% increase in MIP, d=0.25; 19% increase in MEP, d=0.87), while Subject 2 demonstrated very large increases in MIP/MEP (45% increase in MIP, d=2.38; 81% increase in MEP, d=4.31). Following three-month RMT withdrawal, both subjects maintained these strength increases and demonstrated maximal MIP and MEP values at follow-up. Intensive RMT may be a beneficial treatment for respiratory muscle weakness in pediatric survivors of infantile Pompe disease.

INFANTILE HAEMANGIOMA

Directory of Open Access Journals (Sweden)

Maria Armanda Passas

2016-06-01

Full Text Available Infantile hemangiomas are the most common softtissue tumors of infancy, occurring in approximately 3 to 10 percent of one-year-old children, with predominance in females. Despite the frequency of these tumors, their pathogenesis is not completely understood, and the best approach to their management remains controversial. They have a well-described natural history of rapid growth during early infancy followed by gradual involution, often leading to complete regression. Because of their spontaneous involution, most infantile hemangiomas do not require therapeutic intervention. However, in 10 to 15 % of cases, treatment is necessary because of local complications, life or physiological functioning is threatened or the long-term esthetic risk is too high.

Violencia y TV infantil

Directory of Open Access Journals (Sweden)

Valerio Fuenzalida

2015-01-01

Full Text Available Se establece tres razones para discrepar del “criterio reduccionista” que relaciona la violencia televisiva con la violencia real, particularmente en lo atinente a la televisión infantil. A base de las motivaciones infantiles para ver televisión, propone algunas líneas de acción que superen ese reduccionismo y optimicen la relación niños-televisión.

Prevención y promoción del desarrollo infantil: una experiencia en las Escuelas Infantiles

OpenAIRE

Ángela Díaz-Herrero; María Teresa Martínez-Fuentes

2009-01-01

Este trabajo presenta un programa de prevención y promoción del desarrollo infantil dirigido a 136 niños entre 1 y 3 años de edad escolarizados en escuela infantil entre los cursos académicos 2005-2006 y 2007-2008. Se efectuaron dos valoraciones anuales del desarrollo psicomotor mediante las Escalas Bayley de Desarrollo Infantil (Bayleyayley, 1993). Tras la primera evaluación se dieron recomendaciones tanto a la familia como a los educadores para fortalecer las competencias de los niños. Los ...

Infantile spasms and pigmentary mosaicism

DEFF Research Database (Denmark)

Hansen, Lars K; Bygum, Anette; Krogh, Lotte N

2010-01-01

Summary We present a 3-year-old boy with pigmentary mosaicism and persistent intractable infantile spasms due to mosaicism of chromosome 7. Getting the diagnosis of pigmentary mosaicism in a child with infantile spasms may not be easy, as most diagnostic work-up is done in infancy, at a time when...

Abuso sexual infantil, trastornos de la conducta alimentaria y su tratamiento.

Directory of Open Access Journals (Sweden)

Denise Saboya

2013-11-01

Full Text Available Este trabajo aborda las modalidades de tratamientos sistémicos y cognitivos en sujetos que padecieron Abuso Sexual Infantil (ASI y posteriormente desarrollaron trastornos de la conducta alimentaria, específicamente anorexia y bulimia. Summit (1983 agrupa las acciones familiares y/o judiciales en relación al abuso bajo el nombre de Síndrome de Acomodación al Abuso Sexual Infantil (SAASI. Este incluye cinco etapas: el secreto, el desamparo, el entrampamiento y la acomodación, la revelación tardía y no convincente y por último la retracción. En aquellos casos de desconfianza y negación por parte de la figura materna u otros miembros significativos del grupo familiar ante la develación del abuso, se observa el desarrollo de los trastornos de la alimentación (Losada, 2011. En los niños que presentan trastornos de la conducta alimentaria se observa que hicieron la tentativa de contar el ASI y no fueron escuchados, dando lugar al SAASI y pidiendo ayuda nuevamente pero con su cuerpo portando un trastorno de la conducta alimentaria. Se considera imprescindible el desarrollo de un programa de tratamiento para la comorbilidad entre el abuso sexual infantil y los trastornos de la alimentación, siguiendo el concepto de eclecticismo técnico, inspirado en Lazarus (1992. Se considera relevante que el profesional este abierto a la posibilidad de emplear lo mejor de cada enfoque y escuela para así atender mejor a las diversas necesidades de los pacientes. This work approaches the modalities of systemic and cognitive fastened treatments that suffered sexual infantile abuse and later they developed disorders of the food conduct, specifically anorexia and bulimia. Summit (1983 it groups these familiar or judicial actions under the name of Syndrome of Accommodation to the Sexual Infantile Abuse (SAASI. This one includes five stages: the secret, the abandonment, the entrampamiento and the accommodation, the late and not convincing revelation and

Neonatal and infantile acne vulgaris: an update.

Science.gov (United States)

Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

2014-07-01

Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

Desmoplastic infantile ganglioglioma : a case report

Energy Technology Data Exchange (ETDEWEB)

Park, Won Kyu; Byun, Woo Mok; Kim, Dong Suk [Yeungnam Univ. School of Medicine, Kyongsan (Korea, Republic of)

1999-05-01

Desmoplastic infantile ganglioglioma is an uncommon variety of ganglioglioma that shows evidence of glial and ganglionic differentiation accompanied by an extreme desmoplastic reaction. A 16-month-old girl was admitted with a six-day history of left hemiparesis. MR imaging demonstrated a large multiseptated cystic mass, with a solid portion, in the white matter of the right frontotemporoparietal lobe. After contrast injections, the solid portion was clearly enhanced. The presence of desmoplastic infantile ganglioglioma was confirmed by surgical resection. We describe the characteristic radiologic and pathologic features of desmoplastic infantile ganglioglioma, and include a review of the literature.

Salud y mortalidad infantil en Brasil

OpenAIRE

Denisard Alves; Walter Belluzzo

2005-01-01

(Disponible en idioma inglés únicamente) La salud infantil es un aspecto fundamental del programa de políticas públicas de los países en desarrollo. A lo largo de los años se han puesto en práctica numerosas políticas destinadas al mejoramiento de la salud infantil, con diversos grados de éxito. En Brasil, dichas políticas han llevado a una disminución considerable de los niveles de mortalidad infantil durante los últimos 30 años. Sin embargo, a pesar de esa mejora, las tasas de mortalidad si...

[Spanish consensus on infantile haemangioma].

Science.gov (United States)

Baselga Torres, Eulalia; Bernabéu Wittel, José; van Esso Arbolave, Diego L; Febrer Bosch, María Isabel; Carrasco Sanz, Ángel; de Lucas Laguna, Raúl; Del Pozo Losada, Jesús; Hernández Martín, Ángela; Jiménez Montañés, Lorenzo; López Gutiérrez, Juan Carlos; Martín-Santiago, Ana; Redondo Bellón, Pedro; Ruíz-Canela Cáceres, Juan; Torrelo Fernández, Antonio; Vera Casaño, Ángel; Vicente Villa, María Asunción

2016-11-01

Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Prevención y promoción del desarrollo infantil: una experiencia en las Escuelas Infantiles

Directory of Open Access Journals (Sweden)

Ángela Díaz-Herrero

2009-01-01

Full Text Available Este trabajo presenta un programa de prevención y promoción del desarrollo infantil dirigido a 136 niños entre 1 y 3 años de edad escolarizados en escuela infantil entre los cursos académicos 2005-2006 y 2007-2008. Se efectuaron dos valoraciones anuales del desarrollo psicomotor mediante las Escalas Bayley de Desarrollo Infantil (Bayleyayley, 1993. Tras la primera evaluación se dieron recomendaciones tanto a la familia como a los educadores para fortalecer las competencias de los niños. Los resultados indican, de modo global, progresos significativos tanto en el desarrollo mental como psicomotor de los niños que participaron en dicho programa.

Genetic variants associated with altered plasma levels of C-reactive protein are not associated with late-life cognitive ability in four Scottish samples.

Science.gov (United States)

Marioni, Riccardo E; Deary, Ian J; Murray, Gordon D; Lowe, Gordon D O; Rafnsson, Snorri B; Strachan, Mark W J; Luciano, Michelle; Houlihan, Lorna M; Gow, Alan J; Harris, Sarah E; Stewart, Marlene C; Rumley, Ann; Fowkes, F Gerry R; Price, Jackie F

2010-01-01

It is unknown whether the relationship between raised inflammatory biomarker levels and late-life cognitive ability is causal. We explored this issue by testing the association between genetic regulators of plasma C-reactive protein (CRP) and cognition. Data were analysed from four cohorts based in central Scotland (Total N = 4,782). Associations were tested between variants in the CRP gene and both plasma CRP levels and a battery of neuropsychological tests, including a vocabulary-based estimate of peak prior cognitive ability and a general (summary) cognitive factor score, or 'g'. CRP levels were associated with a number of variants in the CRP gene (SNPs), including rs1205, rs1130864, rs1800947, and rs1417938 (P range 4.2e-06 to 0.041). Higher CRP levels were also associated with vocabulary-adjusted cognitive ability, used here to estimate lifetime cognitive change (P range 1.7e-04 to 0.038). After correction for multiple testing and adjustment for age and sex, no statistically significant associations were found between the SNPs and cognition. CRP is unlikely to be a causal determinant of late-life cognitive ability.

Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis.

Science.gov (United States)

Ghosh, Arunava; Rangasamy, Suresh Babu; Modi, Khushbu K; Pahan, Kalipada

2017-05-01

Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme. TPP1 deficiency is known to cause the accumulation of autofluoroscent lipid-protein pigments in brain. Similar to other neurodegenerative disorders, LINCL is also associated with neuroinflammation and neuronal damage. Despite investigations, no effective therapy is currently available for LINCL. Therefore, we administered gemfibrozil (gem), an food and drug administration (FDA)-approved lipid-lowering drug, which has been shown to stimulate lysosomal biogenesis and induce anti-inflammation, orally, at a dose of 7.5 mg/kg body wt/day to Cln2 (-/-) mice. We observed that gem-fed Cln2 (-/-) mice lived longer by more than 10 weeks and had better motor activity compared to vehicle (0.1% Methyl cellulose) treatment. Gem treatment lowered the burden of storage materials, increased anti-inflammatory factors like SOCS3 and IL-1Ra, up-regulated anti-apoptotic molecule like phospho-Bad, and reduced neuronal apoptosis in the brain of Cln2 (-/-) mice. Collectively, this study reinforces a neuroprotective role of gem that may be of therapeutic interest in improving the quality of life in LINCL patients. © 2017 International Society for Neurochemistry.

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Science.gov (United States)

Neupauerová, Jana; Štěrbová, Katalin; Vlčková, Markéta; Sebroňová, Věra; Maříková, Tat'ána; Krůtová, Marcela; David, Staněk; Kršek, Pavel; Žaliová, Markéta; Seeman, Pavel; Laššuthová, Petra

2017-10-01

Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed. Sanger sequencing was used to confirm the novel variants. For confirmation of the functional consequence of an intronic CDKL5 variant in patient 2, an RNA study was done. DNA sequencing revealed de novo variants in CDKL5, a c.2578C>T (p. Gln860*) present in a hemizygous state in a 3-year-old boy, and a potential splice site variant c.463+5G>A in heterozygous state in a 5-year-old girl. Multiple in silico splicing algorithms predicted a highly reduced splice site score for c.463+5G>A. A subsequent mRNA study confirmed an aberrant shorter transcript lacking exon 7. Our data confirmed that variants in the CDKL5 are associated with EIEE2. There is credible evidence that the novel identified variants are pathogenic and, therefore, are likely the cause of the disease in the presented patients. In one of the patients a stop codon variant is predicted to produce a truncated protein, and in the other patient an intronic variant results in aberrant splicing.

Neonatal hypoglycemic brain injury is a cause of infantile spasms

OpenAIRE

YANG, GUANG; ZOU, LI-PING; WANG, JING; SHI, XIUYU; TIAN, SHUPING; YANG, XIAOFAN; JU, JUN; YAO, HONGXIANG; LIU, YUJIE

2016-01-01

Neonatal hypoglycemic brain injury is one of the causes of infantile spasms. In the present study, the clinical history and auxiliary examination results of 18 patients who developed infantile spasms several months after neonatal hypoglycemia were retrospectively analyzed. Among the 666 patients with infantile spasms admitted to two pediatric centers between January 2008 and October 2012, 18 patients developed infantile spasms after being diagnosed with neonatal hypoglycemia, defined as a who...

Evaluación del método cromogénico cinético para la determinación de endotoxinas bacterianas en el inyectable succinilcolina infantil 100 mg.

OpenAIRE

Nancy Burguet-Lago; Aylid Suárez-Castillo; Yamilka Herrera-Ledesma

2015-01-01

El objetivo del presente trabajo fue evaluar el método de lisado de amebocitos del Limulus (LAL) en su variante cromogénica cinética para la determinación de endotoxinas bacterianas en el inyectable succinilcolina infantil 100 mg. Esta variante moni torea el desarrollo de color a través del tiempo y emplea una curva estándar representada por el tiempo de reacción en función de la concentración conocida de endotoxinas, en un rango de 0,005 a 50 UE/mL...

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

DEFF Research Database (Denmark)

2017-01-01

The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients...... with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally...... not find evidence of a role for individual autosomal recessive genes, our current sample is insufficiently powered to assess the overall role of autosomal recessive genotypes in an outbred epileptic encephalopathy population....

Variables que intervienen en el abandono físico o negligencia infantil comparativamente con otros tipos de maltrato infantil

OpenAIRE

Moreno Manso, Juan Manuel

2013-01-01

Es un trabajo de investigación en materia de protección de menores, donde se realiza un análisis comparativo entre las distintas tipologías de maltrato infantil, y más concretamente entre el abandono físico o negligencia infantil y el resto de tipos de maltrato a la infancia. La tesis Doctoral se enmarca en los servicios sociales de protección a la Infancia de la ciudad de Badajoz y es el primer estudio científico sobre el maltrato infantil que se realiza en la Comunidad Autónoma de Extr...

Biofeedback: Infant asthma Biofeedback: asma infantil

Directory of Open Access Journals (Sweden)

J. J. Nombela

2010-09-01

Full Text Available

The present study is a revision of the different applications of biofeedback in infantile bronchial asthma. The technique may be used on its own (preferably in the motor area or in conjunction with other techniques such as hypnosis, relaxation, etc. However, it should be stated that previous work published in this field is difficult to interpret since results are inconclusive, it is, therefore, difficult to produce a scientific summary.

KEY WORDS: Biofeedback; infantile asthma; respiratory biofeedback.

Con este trabajo se pretende hacer una revisión sobre las distintas aplicaciones del biofeedback en el asma bronquial infantil, bien solo (preferentemente en el campo motriz o bien asociado a otras técnicas de hipnosis, relajación, etc. Aunque es necesario manifestar que la producción científica relacionada con el tema, hace que tenga una difícil valoración dado que sus resultados son no concluyentes y discutibles, lo cual dificulta la elaboración de un resumen científico.
PALABRAS CLAVE: Biofeedback; asma infantil; biofeedback respiratorio

Infantile abuse: Radiological diagnosis

Directory of Open Access Journals (Sweden)

Ana Teresa Araujo Reyes

2006-08-01

Full Text Available Infantile abuse is a frequent problem, that must be suspected to bediagnosed, the children victims of infantile abuse can present anytype of injury, nevertheless there are associated injuries common toan inferred trauma that constitute radiological patterns highly specific for abuse, among them are the metafisial injuries, posterior costal fractures and first costal arc fractures, fractures of the toracolumbar region, fractures without apparent explanation, fractures in different stage of evolution, subdural hematoma, subarachnoid hemorrhage, intraparenquimatose contusion and diffuse axonal injury, which combined with the history of the trauma, the age, the development of mental abilities, as well as the mechanism guides the injury diagnose.

Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

Science.gov (United States)

Kurian, Mary; Korff, Christian M; Ranza, Emmanuelle; Bernasconi, Andrea; Lübbig, Anja; Nangia, Srishti; Ramelli, Gian Paolo; Wohlrab, Gabriele; Nordli, Douglas R; Bast, Thomas

2018-01-01

In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures. © 2017 Mac Keith Press.

Birth Weight, Gestational Age, and Infantile Colic

DEFF Research Database (Denmark)

Milidou, Ioanna; Søndregaard, Charlotte; Jensen, Morten Søndergaard

Background Infantile colic is a condition of unknown origin characterized by paroxysms of crying during the first months of life. A few studies have identified low birth weight (BW) as a risk factor among infants born at term, while the association between gestational age (GA) and infantile colic...... interviews of the mother during pregnancy and post partum. Adjusted odds ratios (OR) with 95% confidence intervals (in brackets) are presented. Infantile colic was defined as crying for more than three hours per day and for more than three days per week (modified Wessel’s criteria). Results A total of 4...... with GA gestational weeks 32-40. Finally, after adjusting for GA...

Mutation in LEMD3 (Man1 Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant

Directory of Open Access Journals (Sweden)

Benjamin Korman

2016-01-01

Full Text Available Introduction. Buschke-Ollendorf syndrome (BOS is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions. Evaluation revealed multiple hyperostotic lesions (osteopoikilosis suggestive of BOS. DNA sequencing identified a previously undescribed nonsense mutation (Trp621X in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial LEMD3 mutation in an individual with osteopoikilosis and late-onset morphea. We propose that this constellation represents a novel syndromic variant of BOS.

Infantile sexuality

DEFF Research Database (Denmark)

Zeuthen, Katrine Egede; Gammelgård, Judy

2010-01-01

When first presented, Freud´s theory of infantile sexuality was a scandal. Not only was the claim that the small child sucking at the mother´s breast experiences a kind of pleasure that Freud without hesitation named sexual, the theory also turned the common understanding of human sexuality up-si...

La red sobre trabajo infantil peligroso (Red Tip

Directory of Open Access Journals (Sweden)

Walter Varillas

2003-01-01

Full Text Available En el mundo, aproximadamente 351.7 millones de niños entre 5 y 17 años realizaban algún tipo de actividad económica, de ellos 170.5 millones (48.5% realizaban algún tipo de trabajo considerado peligroso. Un alto porcentaje se encuentra en la agricultura, otros en minas, manufacturas, ladrilleras, predominantemente en la economía informal. El Convenio 138 (cobre la edad mínima de admisión en el empleo de la OIT y el Convenio 182 (sobre las peores formas de trabajo infantil, definen como trabajo infantil peligroso el que puede afectar la salud, seguridad y moralidad de los menores. Estudios específicos sobre los menores muestran su susceptibilidad particular frente a los riesgos laborales, aumentando la peligrosidad para su normal desarrollo y crecimiento: "los niños no son adultos pequeños". Los profesionales de la seguridad y salud en el trabajo pueden colaborar con los profesionales y las organizaciones especializadas en el trabajo infantil, en la definición y caracterización de lo que significa el trabajo infantil peligroso. Para ello se ha conformado la Red sobre Trabajo Infantil Peligroso (Red TIP, con la finalidad de articular estos dos espacios, orientados a eliminar el trabajo infantil peligroso y rescatar al menor y devolverle la oportunidad de sonreír ahora y en el futuro.

PORNOGRAFÍA INFANTIL EN INTERNET

Directory of Open Access Journals (Sweden)

Laura Negredo

2016-09-01

Full Text Available La descarga, intercambio y producción de pornografía infantil es una conducta delictiva de importancia creciente. La explotación cruel de menores y su vínculo con otros problemas como el abuso sexual despiertan preocupación social y académica. El presente trabajo aborda la naturaleza del fenómeno, las características de los materiales que se etiquetan como pornografía infantil, los rasgos psicológicos de los usuarios y los programas de tratamiento existentes.

Maternal characteristics and toddler temperament in infantile anorexia.

Science.gov (United States)

Chatoor, I; Ganiban, J; Hirsch, R; Borman-Spurrell, E; Mrazek, D A

2000-06-01

To explore the association between specific maternal characteristics, maternal perceptions of toddler temperament, and infantile anorexia. Three groups of toddlers (aged 12-37 months) participated in this study: toddlers with infantile anorexia (n = 34), picky eaters (n = 34), and healthy eaters (n = 34). Mothers completed questionnaires that assessed their own eating attitudes, marital satisfaction, and their toddlers' temperament, and an interview that explored their attachment representations. Mothers and toddlers were videotaped during a feeding session, and toddlers were weighed and measured. Temperament ratings differentiated between infantile anorexics and healthy eaters (p anorexia.

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.

Science.gov (United States)

Reitz, Christiane; Jun, Gyungah; Naj, Adam; Rajbhandary, Ruchita; Vardarajan, Badri Narayan; Wang, Li-San; Valladares, Otto; Lin, Chiao-Feng; Larson, Eric B; Graff-Radford, Neill R; Evans, Denis; De Jager, Philip L; Crane, Paul K; Buxbaum, Joseph D; Murrell, Jill R; Raj, Towfique; Ertekin-Taner, Nilufer; Logue, Mark; Baldwin, Clinton T; Green, Robert C; Barnes, Lisa L; Cantwell, Laura B; Fallin, M Daniele; Go, Rodney C P; Griffith, Patrick; Obisesan, Thomas O; Manly, Jennifer J; Lunetta, Kathryn L; Kamboh, M Ilyas; Lopez, Oscar L; Bennett, David A; Hendrie, Hugh; Hall, Kathleen S; Goate, Alison M; Byrd, Goldie S; Kukull, Walter A; Foroud, Tatiana M; Haines, Jonathan L; Farrer, Lindsay A; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Mayeux, Richard

2013-04-10

Genetic variants associated with susceptibility to late-onset Alzheimer disease are known for individuals of European ancestry, but whether the same or different variants account for the genetic risk of Alzheimer disease in African American individuals is unknown. Identification of disease-associated variants helps identify targets for genetic testing, prevention, and treatment. To identify genetic loci associated with late-onset Alzheimer disease in African Americans. The Alzheimer Disease Genetics Consortium (ADGC) assembled multiple data sets representing a total of 5896 African Americans (1968 case participants, 3928 control participants) 60 years or older that were collected between 1989 and 2011 at multiple sites. The association of Alzheimer disease with genotyped and imputed single-nucleotide polymorphisms (SNPs) was assessed in case-control and in family-based data sets. Results from individual data sets were combined to perform an inverse variance-weighted meta-analysis, first with genome-wide analyses and subsequently with gene-based tests for previously reported loci. Presence of Alzheimer disease according to standardized criteria. Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 Alzheimer disease but not reaching significance in genome-wide analyses were replicated in gene-based analyses accounting for linkage disequilibrium between markers and correcting for number of tests performed per gene (CR1, BIN1, EPHA1, CD33; 0.0005 Alzheimer disease was significantly associated with variants in ABCA7 and with other genes that have been associated with Alzheimer disease in individuals of European ancestry. Replication and functional

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Science.gov (United States)

Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

2016-10-01

Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

The changing face of complicated infantile hemangioma treatment

Energy Technology Data Exchange (ETDEWEB)

Menapace, Deanna [Creighton University School of Medicine, Phoenix Regional Campus, Phoenix, AZ (United States); Mayo School of Graduate Medical Education-MN, Department of Otorhinolaryngology, Rochester, MN (United States); Mitkov, Mario [Creighton University School of Medicine, Phoenix Regional Campus, Phoenix, AZ (United States); Towbin, Richard [Phoenix Children' s Hospital, Department of Radiology, Phoenix, AZ (United States); Hogeling, Marcia [University of California, Los Angeles, Division of Dermatology, Santa Monica, CA (United States)

2016-10-15

Infantile hemangiomas are the most common vascular tumors of infancy. A multidisciplinary approach including dermatologists, otolaryngologists, plastic surgeons, hematologists/oncologists and interventional/diagnostic radiologists is crucial for appropriate management of children with complicated infantile hemangiomas. Since its unforeseen discovery in 2008, propranolol has become the first-line treatment for infantile hemangiomas, eclipsing systemic corticosteroids and radiologic intervention. There are still, however, uncommon indications for more aggressive interventional management. We review the 2014-updated International Society for the Study of Vascular Anomalies (ISSVA) classification for vascular anomalies. Additionally, we suggest management algorithms for complicated lesions, including recommendations for radiologic and surgical intervention. (orig.)

El dibujo infantil /

OpenAIRE

Rada Ojer, Ángela

2012-01-01

La autora en este trabajo habla del dibujo infantil que es un lenguaje y una herramienta de alto valor comunicativo y valora cómo las situaciones vitales por las que pasa un niño pueden quedar reflejadas en sus manifestaciones gráficas

Spectroscopic parameters, vibrational levels, transition dipole moments and transition probabilities of the 9 low-lying states of the NCl+ cation

Science.gov (United States)

Yin, Yuan; Shi, Deheng; Sun, Jinfeng; Zhu, Zunlue

2018-03-01

This work calculates the potential energy curves of 9 Λ-S and 28 Ω states of the NCl+ cation. The technique employed is the complete active space self-consistent field method, which is followed by the internally contracted multireference configuration interaction approach with the Davidson correction. The Λ-S states are X2Π, 12Σ+, 14Π, 14Σ+, 14Σ-, 24Π, 14Δ, 16Σ+, and 16Π, which are yielded from the first two dissociation channels of NCl+ cation. The Ω states are generated from these Λ-S states. The 14Π, 14Δ, 16Σ+, and 16Π states are inverted with the spin-orbit coupling effect included. The 14Σ+, 16Σ+, and 16Π states are very weakly bound, whose well depths are only several-hundred cm- 1. One avoided crossing of PECs occurs between the 12Σ+ and 22Σ+ states. To improve the quality of potential energy curves, core-valence correlation and scalar relativistic corrections are included. The potential energies are extrapolated to the complete basis set limit. The spectroscopic parameters and vibrational levels are calculated. The transition dipole moments are computed. The Franck-Condon factors, Einstein coefficients, and radiative lifetimes of many transitions are determined. The spectroscopic approaches are proposed for observing these states according to the transition probabilities. The spin-orbit coupling effect on the spectroscopic and vibrational properties is evaluated. The spectroscopic parameters, vibrational levels, transition dipole moments, as well as transition probabilities reported in this paper could be considered to be very reliable.

Similarities and differences between infantile and early childhood onset vanishing white matter disease.

Science.gov (United States)

Zhou, Ling; Zhang, Haihua; Chen, Na; Zhang, Zhongbin; Liu, Ming; Dai, Lifang; Wang, Jingmin; Jiang, Yuwu; Wu, Ye

2018-06-01

Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1-3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV-V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan-Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

Brainstem evoked potentials in infantile spasms

International Nuclear Information System (INIS)

Miyazaki, Masahito; Hashimoto, Toshiaki; Murakawa, Kazuyoshi; Tayama, Masanobu; Kuroda, Yasuhiro

1992-01-01

In ten patients with infantile spasms, brainstem evoked potentials and MRI examinations were performed to evaluate the brainstem involvement. The result of short latency somatosensory evoked potentials (SSEP) following the right median nerve stimulation revealed abnormal findings including the absence or low amplitudes of the waves below wave P3 and delayed central conduction time in 7 of the ten patients. The result of auditory brainstem responses (ABR) revealed abnormal findings including low amplitudes of wave V, prolonged interpeak latency of waves I-V and absence of the waves below wave IV in 5 of the ten patients. The result of the MRI examinations revealed various degrees of the brainstem atrophy in 6 of the ten patients, all of whom showed abnormal brainstem evoked potentials. The result of this study demonstrates that patients with infantile spasms are frequently associated with brainstem dysfunction and raises the possibility that brainstem atrophy might be a cause of infantile spasms. (author)

CT findings in patients with infantile epilepsy on ACTH therapy

International Nuclear Information System (INIS)

Watanabe, Kazunari; Hara, Kimiko; Hakamada, Akira; Miyazaki, Shuji.

1981-01-01

A case of infantile spasms in which subdural hematoma developed after ACTH-Z therapy was reported. The results of CT evaluated before and after the therapy in 17 cases of infantile epilepsy including infantile spasms. Cerebral atrophy due to ACTH-Z therapy was remarkable, especially in the infants under one year old. We should vary careful in employing ACTH-Z therapy for infants of this age. (Ueda, J.)

AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

Science.gov (United States)

Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi

2017-01-01

Background Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is divided into three types: classic infantile onset, non-classic infantile onset, and late onset. Early enzyme replacement therapy (ERT) before developing respiratory distress may lead to good outcome. Since 2013, we have identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe phenotypes and outcomes of five infantile-onset PD patients who received ERT. Methods GAA enzyme assay was done at National Taiwan University Hospital. Results Ages of diagnosis were 12, 38 and 70 days, 5 and 9 months of age. Clinical presentations included macroglossia (5/5), hypertrophic cardiomyopathy (5/5), failure to thrive (5/5), facial weakness and hypotonia (3 patients diagnosed after 70 days of age), respiratory failure (1 patient diagnosed at 9 months of age). All patients had mildly elevated plasma CK (270–380 UI/L) and transaminase (60–260 UI/l). Ages at starting ERT were 28 and 58 days, 3, 6 and 10 months. The time intervals from diagnosis to starting ERT were between 14 days and 1 month. The durations of ERT were 4–22 months. The outcomes were good. All patients had improvement of cardiac functions shown on echocardiography, respiratory status, and motor development. The patient who first received ERT at 10 months of age was reportedly dead at home due to food obstruction at 18 months of age. Current ages of the survivors were 5–24 months. Conclusions Patients with classic infantile-onset PD will have good outcomes if ERT is started early. Newborn screening for this disease is necessary to yield an early diagnosis.

A five-week-old girl with inspiratory stridor due to infantile hemangiopericytoma

DEFF Research Database (Denmark)

Hansen, Jonas K; Sørensen, Flemming Brandt; Christensen, Mogens Fjord

2006-01-01

UNLABELLED: A 5-week-old girl with inspiratory stridor is presented. No immediate cause of the stridor was found, but eventually a diagnosis of infantile hemangiopericytoma located in the rhinopharynx was made. After surgery all respiratory symptoms disappeared.CONCLUSION: Infantile hemangioperic......UNLABELLED: A 5-week-old girl with inspiratory stridor is presented. No immediate cause of the stridor was found, but eventually a diagnosis of infantile hemangiopericytoma located in the rhinopharynx was made. After surgery all respiratory symptoms disappeared.CONCLUSION: Infantile...

CRESCIMENTO INFANTIL: ANÁLISE DO CONCEITO

Directory of Open Access Journals (Sweden)

Flávia Paula Magalhães Monteiro

2016-01-01

Full Text Available El objetivo fue analizar el concepto de crecimiento infantil mediante identificación de elementos atributos y consecuencias que componen el fenómeno. Para análisis de concepto que fue basado en 41 estudios, se utilizaron el modelo de análisis evolutivo y la revisión integradora de la literatura. Para selección de las producciones, se buscaron las bases de datos Scopus, Cinahl y Lilacs, el portal de PubMed e la biblioteca Cochrane. El crecimiento se ha presentado diferentes connotaciones, incluyendo aspectos sociales y fisiológicos como parte del dominio físico del desarrollo del niño. Atributos y consecuencias identificadas traen amplia percepción acerca del fenómeno analizado, teniendo en cuenta que vinculan diversos aspectos relacionados con otros estudios sobre crecimiento infantil. La comprensión teórica del desarrollo infantil puede proporcionar a enfermeros conocimiento en profundidad sobre los factores que implican este proceso, facilitando decisiones a través de medidas de intervención.

Diagnóstico genético e clínico do autismo infantil Genetic and clinical diagnosis of infantile autism

Directory of Open Access Journals (Sweden)

MARIA IONE FERREIRA DA COSTA

1998-03-01

Full Text Available Os principais objetivos deste estudo foram caracterizar variáveis selecionadas para um melhor entendimento e diagnóstico do autismo infantil, tais como: achados clínicos e de imagem, critérios diagnósticos, frequência de distúrbios neuropsiquiátricos nos familiares dos propósitos, recorrência familiar e a ocorrência de consanguinidade entre os pais dos propósitos e entre outros casais da família. A amostra foi constituída de 36 propósitos, de ambos os sexos e na faixa etária de 1 a 20 anos, pertencentes a 35 famílias distintas, todos com diagnóstico clínico de autismo infantil. Os resultados foram os seguintes: a deficiência mental foi observada clinicamente em todos os pacientes da amostra e convulsão em 27,8%; distúrbios neuropsiquiátricos foram referidos em pelo menos um familiar dos propósitos (97,14 % das famílias, autismo recorrente em 11,42 % e consanguinidade nos pais (11,42 %, avós e bisavós (2,86 %; achados anormais de tomografia computadorizada de crânio foram verificados em três propósitos. O conjunto destes resultados reforça a sugestão do modelo de herança multifatorial com limiar diferencial para sexo no autismo infantil. A avaliação clínica de todo caso de autismo infantil deverá contemplar sempre os aspectos neurológicos, psiquiátricos e genéticos.The main objectives of this study were to characterize the selected variables for a better understanding and diagnosis of infantile autism such as clinical and image findings, diagnostic criteria, frequency of neuropsychiatric disorders in the subjects' families, familial recurrence and occurrence of consanguinity between the subjetcs' parents and between other couples in the family. The sample was composed of 36 subjects of both sexes, in the age group from 1 through 20 years old, members of 35 distinctive families, all of which presenting clinical diagnosis for infantile autism. Mental retardation was clinically observed in all subjects of the

Realidad aumentada en Educación Infantil

OpenAIRE

Sánchez Rodríguez, José; Ruiz Palmero, Julio; Sánchez Vega, Elena

2016-01-01

Comenzamos por un resumen del marco normativo de la etapa Educación Infantil en el que se indica la necesidad de incluir las tecnologías en la misma. Posteriormente comentamos posibilidades de materiales y recursos tecnológicos para la enseñanza. Por último, detallamos algunas experiencias de uso de la realidad aumentada (RA) con alumnado del segundo ciclo de Educación Infantil. Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech.

Salud infantil, expresión corporal, enfoque globalizador en educación infantil : programa preventivo de la obesidad infantil

OpenAIRE

Torres Soltero, Fátima

2012-01-01

La obesidad infantil, es mucho más que un problema simplemente estético, pues su presencia, como hemos podido observar, conlleva una serie de riesgos para los niños/as, en este caso, afectados. Y lo más importante es que estos niños/as cuando sean adultos sepan prevenirla

Infantile masturbation and paroxysmal disorders.

Science.gov (United States)

Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

2008-02-01

A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

Behandling af infantile spasmer

DEFF Research Database (Denmark)

Kjærsgård, Lars; Rasmussen, Niels

2006-01-01

Infantile spasms (IS) are characterised by neurodevelopmental regression, a unique type of seizures and a hypsarrhythmic EEG pattern. Studies recommend the medical treatment of IS as a positive short-term outcome with respect to the spasms and in the resolution of the hypsarrhythmia. However...

Infantile hypertrophic pyloric stenosis

DEFF Research Database (Denmark)

Pedersen, Rikke Neess; Garne, Ester; Loane, Maria

2008-01-01

OBJECTIVE: The objective of this study was to present epidemiologic data on infantile hypertrophic pyloric stenosis (IHPS) from seven well-defined European regions, and to compare incidence and changes in incidence over time between these regions. METHODS: This was a population-based study using ...

A global evolutionary and metabolic analysis of human obesity gene risk variants.

Science.gov (United States)

Castillo, Joseph J; Hazlett, Zachary S; Orlando, Robert A; Garver, William S

2017-09-05

It is generally accepted that the selection of gene variants during human evolution optimized energy metabolism that now interacts with our obesogenic environment to increase the prevalence of obesity. The purpose of this study was to perform a global evolutionary and metabolic analysis of human obesity gene risk variants (110 human obesity genes with 127 nearest gene risk variants) identified using genome-wide association studies (GWAS) to enhance our knowledge of early and late genotypes. As a result of determining the mean frequency of these obesity gene risk variants in 13 available populations from around the world our results provide evidence for the early selection of ancestral risk variants (defined as selection before migration from Africa) and late selection of derived risk variants (defined as selection after migration from Africa). Our results also provide novel information for association of these obesity genes or encoded proteins with diverse metabolic pathways and other human diseases. The overall results indicate a significant differential evolutionary pattern for the selection of obesity gene ancestral and derived risk variants proposed to optimize energy metabolism in varying global environments and complex association with metabolic pathways and other human diseases. These results are consistent with obesity genes that encode proteins possessing a fundamental role in maintaining energy metabolism and survival during the course of human evolution. Copyright © 2017. Published by Elsevier B.V.

Creatividad y Educación Artística en la etapa de infantil

OpenAIRE

Hernando Martín, Carmen

2013-01-01

En el TFG propuesto se desarrolla la creatividad y la educación artística en la etapa de infantil. Para ello, haré hincapié en el dibujo infantil y la representación de la figura humana. Grado en Educación Infantil

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases

International Nuclear Information System (INIS)

Del Gaizo, Andrew; Banerjee, Sima; Terk, Michael

2009-01-01

Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity. The condition is often classified by age of presentation, with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adult onset GSDII, along with key Magnetic Resonance (MR) images. (orig.)

Body mass index in male and female children with infantile autism

DEFF Research Database (Denmark)

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2002-01-01

was to evaluate body mass index (BMI) of children with infantile autism, by comparing the BMI of 117 children with infantile autism with the corresponding BMI percentiles in an age- and sex-matched reference population. The BMI distribution of the male, but not female, children with infantile autism...... was significantly lower than that of the age-matched reference population. There was no evidence that BMI was associated with intelligence or socioeconomic status among children with infantile autism.......Morphometry, the measurement of forms, is an ancient practice. Recently, evidence has grown to support the notion that aberrant neurodevelopment may play a role in the pathophysiology of autism. Is the body, like the brain, affected by abnormal development in these patients? The aim of this study...

A case of infantile osteopetrosis: The radioclinical features with literature update.

Science.gov (United States)

El-Sobky, Tamer Ahmed; Elsobky, Ezzat; Sadek, Ismaiel; Elsayed, Solaf M; Khattab, Mohamed Fawzy

2016-06-01

Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable. Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed. This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis. Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

Mortalidad infantil y migración en Chiapas, México

Directory of Open Access Journals (Sweden)

Olga Lidia Lópes-Gonzáles

2010-01-01

Full Text Available El objetivo de este trabajo fue analizar, en términos causales, la relación entre mortalidad infantil y migración en cuatro zonas socioeconómicas de la región Soconusco en Chiapas, México. El análisis de este estudio se basó en los resultados de una encuesta socio demográfica y de salud con base poblacional (probabilística que se llevó a cabo en el Soconusco, Chiapas en 1996-97. Se contrastan zonas con distinta condición socioeconómica, cultural y productiva. Se realizó análisis de regresión lineal y logística para identificar el efecto de la migración y la mortalidad infantil, así como de la migración y la zona geográfica sobre la tasa de mortalidad infantil. Los datos muestran que aunque más del 70% de la varianza de la mortalidad infantil se explica por la migración, no existe evidencia de una relación causal concluyente. La relación identificada entre mortalidad infantil, migración y zonas geográficas orientan a una explicación alternativa. Planteamos la hipótesis de que en la región estudiada, la magnitud y características de la emigración, así como de las tasas de mortalidad infantil, son consecuencia de las condiciones de vulnerabilidad económica y social de las poblaciones.

Mortalidad infantil y migración en Chiapas, México

Directory of Open Access Journals (Sweden)

Olga Lidia Lópes-Gonzáles

2010-07-01

Full Text Available El objetivo de este trabajo fue analizar, en términos causales, la relación entre mortalidad infantil y migración en cuatro zonas socioeconómicas de la región Soconusco en Chiapas, México. El análisis de este estudio se basó en los resultados de una encuesta socio demográfica y de salud con base poblacional (probabilística que se llevó a cabo en el Soconusco, Chiapas en 1996-97. Se contrastan zonas con distinta condición socioeconómica, cultural y productiva. Se realizó análisis de regresión lineal y logística para identificar el efecto de la migración y la mortalidad infantil, así como de la migración y la zona geográfica sobre la tasa de mortalidad infantil. Los datos muestran que aunque más del 70% de la varianza de la mortalidad infantil se explica por la migración, no existe evidencia de una relación causal concluyente. La relación identificada entre mortalidad infantil, migración y zonas geográficas orientan a una explicación alternativa. Planteamos la hipótesis de que en la región estudiada, la magnitud y características de la emigración, así como de las tasas de mortalidad infantil, son consecuencia de las condiciones de vulnerabilidad económica y social de las poblaciones.

El timerosal y las enfermedades del neurodesarrollo infantil

Directory of Open Access Journals (Sweden)

Luis Maya

2006-09-01

Full Text Available Se evalúa la relación causal entre el timerosal (etilmercurio, como preservante en las vacunas pediátricas, y el incremento de casos de enfermedades del neurodesarrollo infantil, como consecuencia de la ampliación de los esquemas de inmunización. Se revisó la información científica, relacionando el timerosal y las evidencias que permitan evaluar una posible asociación causal, con estudios epidemiológicos, ecológicos, biomoleculares y toxicológicos, de bioseguridad, toxicológicos fetales y sobre salud reproductiva. Se encontró múltiples asociaciones entre la exposición a timerosal y las enfermedades del neurodesarrollo infantil. Tal neurotoxicidad ocurre en los infantes y fetos de gestantes vacunadas por dosis acumulativa de mercurio. Las diversas evidencias implican al timerosal como el agente causante, agravante o disparador de las enfermedades del neurodesarrollo infantil. La toxicidad del mercurio obligó al retiro progresivo del timerosal de los medicamentos. Lamentablemente, en las vacunas, ha habido una sustancial demora en la demostración de su impacto negativo. Actualmente, existen vacunas sin timerosal, cuyo uso está ocasionando la disminución de la incidencia de las enfermedades del neurodesarrollo infantil.

¿Igualdad en educación infantil?

OpenAIRE

Vélez Sales, Paula

2016-01-01

Treball final de Grau en Mestre o Mestra d'Educació Infantil. Codi: MI1040. Curs acadèmic 2015-2016 Este trabajo tiene como objeto realizar una revisión teórica sobre las desigualdades en la etapa de infantil, sus causas y consecuencias. Para ello, estudiaremos las aportaciones teóricas más relevantes sobre las desigualdades sociales, culturales, económicas y políticas que influyen en la escuela. La metodología se ha basado en las búsquedas bibliográficas relacionadas con el tema de la ...

Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ε4, and the Risk of Late-Onset Alzheimer Disease in African Americans

Science.gov (United States)

Reitz, Christiane; Jun, Gyungah; Naj, Adam; Rajbhandary, Ruchita; Vardarajan, Badri Narayan; Wang, Li-San; Valladares, Otto; Lin, Chiao-Feng; Larson, Eric B.; Graff-Radford, Neill R.; Evans, Denis; De Jager, Philip L.; Crane, Paul K.; Buxbaum, Joseph D.; Murrell, Jill R.; Raj, Towfique; Ertekin-Taner, Nilufer; Logue, Mark; Baldwin, Clinton T.; Green, Robert C.; Barnes, Lisa L.; Cantwell, Laura B.; Fallin, M. Daniele; Go, Rodney C. P.; Griffith, Patrick; Obisesan, Thomas O.; Manly, Jennifer J.; Lunetta, Kathryn L.; Kamboh, M. Ilyas; Lopez, Oscar L.; Bennett, David A.; Hendrie, Hugh; Hall, Kathleen S.; Goate, Alison M.; Byrd, Goldie S.; Kukull, Walter A.; Foroud, Tatiana M.; Haines, Jonathan L.; Farrer, Lindsay A.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Mayeux, Richard

2013-01-01

Importance Genetic variants associated with susceptibility to late-onset Alzheimer disease are known for individuals of European ancestry, but whether the same or different variants account for the genetic risk of Alzheimer disease in African American individuals is unknown. Identification of disease-associated variants helps identify targets for genetic testing, prevention, and treatment. Objective To identify genetic loci associated with late-onset Alzheimer disease in African Americans. Design, Setting, and Participants The Alzheimer Disease Genetics Consortium (ADGC) assembled multiple data sets representing a total of 5896 African Americans (1968 case participants, 3928 control participants) 60 years or older that were collected between 1989 and 2011 at multiple sites. The association of Alzheimer disease with genotyped and imputed single-nucleotide polymorphisms (SNPs) was assessed in case-control and in family-based data sets. Results from individual data sets were combined to perform an inverse variance–weighted meta-analysis, first with genome-wide analyses and subsequently with gene-based tests for previously reported loci. Main Outcomes and Measures Presence of Alzheimer disease according to standardized criteria. Results Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10–9), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8

Solitary infantile choriocarcinoma of the liver: MRI findings

Energy Technology Data Exchange (ETDEWEB)

Hoef, Marianne van der; Willi, Ulrich V.; Huisman, Thierry A.G.M. [University Children' s Hospital Zurich, Department of Diagnostic Imaging, Zurich (Switzerland); Niggli, Felix K. [University Children' s Hospital Zurich, Department of Paediatrics, Zurich (Switzerland)

2004-10-01

Infantile hepatic choriocarcinoma is a rare, highly malignant germ-cell tumour believed to result from a choriocarcinoma of the placenta that spreads to the child. Most infants present with a characteristic clinical picture of anaemia, hepatomegaly and precocious puberty. Imaging findings, including conventional MRI, may be non-specific. To improve the accuracy of diagnosis, we present the imaging findings of contrast-enhanced dynamic MRI in a 4.5-month-old boy with infantile hepatic choriocarcinoma. (orig.)

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Science.gov (United States)

Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

2017-01-01

KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin–Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted. PMID:28250421

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Science.gov (United States)

Miyatake, Satoko; Okamoto, Nobuhiko; Stark, Zornitza; Nabetani, Makoto; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Mizuguchi, Takeshi; Ohtake, Akira; Saitsu, Hirotomo; Matsumoto, Naomichi

2017-08-01

KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms. One individual showed extremely mild phenotype. All individuals fulfilled the proposed diagnostic criteria for KBGS. Phenotypic features overlap between KBGS and CSS to some extent, and characteristic dental and fifth finger/toe findings can indicate differential diagnosis. These findings indicate that patients with ANKRD11 variants occupy a wide spectrum of intellectual disability, including clinically normal individuals. This is the first report highlighting the clinical overlap between KBGS and CSS and supporting the recently proposed clinical concept, in which transcriptional machineries are disrupted.

Diversidad y educación: el caso del trabajo infantil

Directory of Open Access Journals (Sweden)

María Alejandra Silva

2017-12-01

Full Text Available Objetivo: conocer los determinantes sociales del trabajo infantil y las políticas para la diversidad en trabajo y educación en Corrientes,  ubicada en el nordeste de Argentina (NEA desde un punto existencial. Método: Se acude al análisis de documentos y estadísticas, además de la consulta a informantes calificados en trabajo y educación. Resultados: El análisis estadístico muestra que las enormes desigualdades regionales persistentes y los problemas de extrema pobreza infantil proporcionan condiciones para que el trabajo infantil aumente. En cuanto a la naturaleza y perfil del trabajo infantil en Corrientes, se observa que hay diversidad de sexo, edad, cultura, tipo de trabajo, duración del día, etc. Conclusiones: El trabajo infantil constituye una flagrante violación de los derechos humanos, que necesita erradicarse a partir de numerosas políticas interministeriales e intersectoriales, siendo necesario políticas de y para la diversidad en educación a fin de incorporar al sistema educativo. Existen informaciones parciales y limitadas, faltando datos oficiales de toda la Provincia, lo que impide pensar en las políticas en y para la diversidad en la escuela que los incluya a través de nuevas metodologías, contenidos, recursos, docentes y gestores proactivos.

Late prematurity: a systematic review

Directory of Open Access Journals (Sweden)

Luís Carlos Machado, Júnior

2014-05-01

Full Text Available Objective: this study aimed to review the literature regarding late preterm births (34 weeks to 36 weeks and 6 days of gestation in its several aspects. Sources: the MEDLINE, LILACS, and Cochrane Library databases were searched, and the references of the articles retrieved were also used, with no limit of time. Data synthesis: numerous studies showed a recent increase in late preterm births. In all series, late preterm comprised the majority of preterm births. Studies including millions of births showed a strong association between late preterm birth and neonatal mortality. A higher mortality in childhood and among young adults was also observed. Many studies found an association with several neonatal complications, and also with long-term disorders and sequelae: breastfeeding problems, cerebral palsy, asthma in childhood, poor school performance, schizophrenia, and young adult diabetes. Some authors propose strategies to reduce late preterm birth, or to improve neonatal outcome: use of antenatal corticosteroids, changes in some of the guidelines for early delivery in high-risk pregnancies, and changes in neonatal care for this group. Conclusions: numerous studies show greater mortality and morbidity in late preterm infants compared with term infants, in addition to long-term disorders. More recent studies evaluated strategies to improve the outcomes of these neonates. Further studies on these strategies are needed. Resumo: Objetivo: revisar a literatura sobre prematuridade tardia (nascimentos de 34 semanas a 36 semanas e seis dias em seus vários aspectos. Fonte dos dados: buscas nas bases MEDLINE, LILACS e Biblioteca Cochrane, sem limite de tempo, e nas referências bibliográficas dos artigos encontrados. Síntese dos dados: muitos estudos mostram aumento na taxa de prematuridade tardia nos últimos anos. Em todas as séries, os prematuros tardios correspondem à maioria dos nascimentos prematuros. Estudos envolvendo análises de milhões de

Endemic characteristics of infantile visceral leishmaniasis in the People's Republic of China.

Science.gov (United States)

Fu, Qing; Li, Shi-Zhu; Wu, Wei-Ping; Hou, Yan-Yan; Zhang, Song; Feng, Yu; Zhang, Li-Ping; Tang, Lin-Hua

2013-05-17

Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. The endemic situation of infantile VL is serious, and there are several active foci of

Intrauterine nicotine exposure, birth weight, gestational age and the risk of infantile colic

DEFF Research Database (Denmark)

Milidou, Ioanna; Søndergaard, Charlotte; Jensen, Morten Søndergaard

Background and aim: Infantile colic is characterised by crying bouts in a healthy infant during the first months. Smoking in pregnancy and low birth weight (BW) have been previously identified as risk factors for infantile colic. Nicotine acts as a neurotransmitter and is known to affect the intr......Background and aim: Infantile colic is characterised by crying bouts in a healthy infant during the first months. Smoking in pregnancy and low birth weight (BW) have been previously identified as risk factors for infantile colic. Nicotine acts as a neurotransmitter and is known to affect...... the intrauterine central nervous system development, while low BW and premature birth have both been related to adverse neurodevelopmental outcomes. We investigated the association between intrauterine nicotine exposure, BW, gestational age (GA) and infantile colic in a large cohort study. Materials and methods......: We used data from the Danish National Birth Cohort. The study on nicotine exposure included 63,128 infants and the study on BW and GA included 62, 785 infants with complete data. Infantile colic was defined according to the modified Wessel’s criteria based on maternal interview 6 months postpartum...

Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

Science.gov (United States)

Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

2017-07-01

Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

Monitoramento do desenvolvimento infantil realizado no Brasil La monitoración del desarrollo infantil realizada en Brasil Monitoring of child development held in Brazil

Directory of Open Access Journals (Sweden)

Silvio Cesar Zeppone

2012-12-01

Full Text Available OBJETIVO: Revisar a literatura científica para verificar como a vigilância do desenvolvimento infantil vem sendo realizada no Brasil. FONTES DE DADOS: Pesquisa em bases de dados (PubMed, Medline, SciELO e Banco de Teses da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior sobre estudos das práticas médicas em relação à vigilância e ao monitoramento do desenvolvimento infantil no Brasil, de 2000 a 2011. Os termos usados para pesquisa foram: vigilância de desenvolvimento infantil, intervenção precoce, triagem de desenvolvimento e testes de triagem de desenvolvimento. Foram encontrados dez textos referentes ao tema em estudo. Artigos originais, de revisão e teses foram revisados, bem como as listas de referências das publicações sobre o assunto. SÍNTESE DOS DADOS: Os estudos sobre a prática do monitoramento do desenvolvimento infantil no Brasil apontam uma importante falha, desde a formação do médico pediatra até a prática clínica, em relação a este tema. CONCLUSÕES: Há necessidade urgente, principalmente frente a uma população emergente de prematuros, que os pediatras façam uma reciclagem do conhecimento sobre o desenvolvimento infantil.OBJETIVO: Revisar la literatura científica para verificar cómo la vigilancia del desarrollo infantil viene siendo realizada en Brasil. FUENTES DE DATOS: Investigación en las bases de datos (Pubmed, Medline, SciELO y Base de Tesis CAPES sobre estudios de las prácticas médicas respecto a la vigilancia y monitoración del desarrollo infantil en Brasil de 2000 a 2011. Los términos usados para la investigación fueron: vigilancia de desarrollo infantil, intervención temprana, screening de desarrollo y pruebas de screening de desarrollo. Se encontraron 10 textos relativos al tema en estudio. Artículos originales, de revisión y tesis fueron revisados, así como las listas de referencias de las publicaciones sobre el tema. SÍNTESIS DE LOS DATOS: Los estudios sobre la pr

Imaging feature of infratentorial desmoplastic infantile and non-infantile tumors

Energy Technology Data Exchange (ETDEWEB)

Kim, Hyun Gi; Lee, Seung Koo [Dept. of Radiology and Research Institute of Radiological Science, Severance Children' s Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of); Kim, Se Hoon [Dept. of Pathology, Yonsei University College of Medicine, Severance Hospital, Seoul (Korea, Republic of)

2016-07-15

To describe imaging features of infratentorial desmoplastic infantile or non-infantile tumors (DIT/DNIT). Four cases with infratentorial DIT/DNIT from our hospital and 5 cases from literature review were analyzed. Clinical data and MR imaging features were evaluated including location, size, shape, margin, composition, dural attachment, perilesional edema, and metastasis or multiplicity. The mean age was 9.2 years (range, 1-18 years). Most of the patients presented with headache or vomiting (4/9, 44.4%) and had no underlying disease (8/9, 88.9%). The major pathologic subtype was astrocytoma (6/9, 66.7%). On MR, majority of the tumors involved cerebellum and/or spinal cord (8/9, 88.9%) and the mean size of the tumors was 4.2 cm (range, 3.2-5 cm). The tumors were mainly solid (4/9, 44.4%) or mixed (4/9, 44.4%) in composition with lobulated shape (7/9, 77.8%) and well-defined margin (7/9, 77.8%). Two cases (2/7, 28.6%) showed dural attachment and all the cases had no or minimal perilesional edema (100%). Metastasis or multiplicity was frequently seen in 44.4% (4/9). Infratentorial DIT/DNIT occurred in relatively older children and the major tumor type was astrocytoma. They also had atypical imaging features showing mainly solid or mixed in composition with frequent metastasis or multiplicity.

El maltrato infantil y la credibilidad del testimonio en menores

OpenAIRE

Fagúndez Gómez, Raquel

2015-01-01

En los últimos años ha aumentado de forma exponencial la investigación acerca del maltrato infantil, ya que se considera un acto reprobable y completamente perjudicial para el menor. Este estudio tiene como finalidad dar a conocer los tipos de maltrato infantil existentes y la metodología que se puede utilizar para detectarlos.

Infantile spasms: A prognostic evaluation

Directory of Open Access Journals (Sweden)

Mary Iype

2016-01-01

Full Text Available Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a the etiology, demographics, semiology, electroencephalogram (EEG, and radiological pattern; b seizure control, psychomotor development, and EEG resolution with treatment; c the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH. No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging.

Infantile nystagmus and visual deprivation

DEFF Research Database (Denmark)

Fledelius, Hans C; Jensen, Hanne

2014-01-01

PURPOSE: To evaluate whether effects of early foveal motor instability due to infantile nystagmus might compare to those of experimental visual deprivation on refraction in a childhood series. METHODS: This was a retrospective analysis of data from the Danish Register for Blind and Weaksighted Ch...

Pornografia infantil na Internet: violência sexual ou pornografia?

Directory of Open Access Journals (Sweden)

Tatiana Savoia Landini

2000-01-01

Full Text Available O artigo versa sobre a proliferação da pornografia infantil na internet. Argumento que uma possível explicação para o aumento dessa troca seja o não entendimento, por parte dos internautas, de que a pornografia infantil é uma forma de violência sexual contra a criança. Essa visão é engendrada pela especificidades da troca desse tipo de material na rede.

Pornografia infantil na Internet: violência sexual ou pornografia?

OpenAIRE

Tatiana Savoia Landini

2000-01-01

O artigo versa sobre a proliferação da pornografia infantil na internet. Argumento que uma possível explicação para o aumento dessa troca seja o não entendimento, por parte dos internautas, de que a pornografia infantil é uma forma de violência sexual contra a criança. Essa visão é engendrada pela especificidades da troca desse tipo de material na rede.

Estudio sobre las consecuencias del maltrato infantil en el desarrollo del lenguaje

OpenAIRE

Moreno Manso, Juan Manuel

2005-01-01

Con el estudio sobre las consecuencias del maltrato infantil en el desarrollo del lenguaje, intentamos determinar si los malos tratos a la infancia ocasionan repercusiones en dicha área y si existen repercusiones lingüísticas diferenciales según el tipo de maltrato infantil que sufre el niño. Para ello, analizamos muestras de maltrato infantil tales como el abandono físico, abandono emocional, maltrato físico y maltrato emocional. Reflejamos los resultados de la aplicación de las Escalas McCa...

Factores de riesgo del maltrato y abandono infantil desde una perspectiva multicausal

OpenAIRE

González-Muriel López, Cristina

1996-01-01

RESUMEN: En este artículo se expone la evolución de los diferentes modelos que han tratado de ofrecer una explicación del maltrato y abandono infantil, modelos que en un principio se basaban en una perspectiva unicausal. Actualmente, el maltrato infantil se encuadra en un marco teórico multicausal; desde este enfoque, se proporciona un análisis de aquellos factores ambientales, familiares e individuales, que se consideran importantes en la explicación del maltrato y abandono infantil intrafam...

Infantile colic

Directory of Open Access Journals (Sweden)

Aleksandra Rurarz

2016-12-01

Full Text Available Infantile colic is one of the most common functional gastrointestinal disorders in infants, usually occurring between 2 weeks to 4 months of age. According to the definition, infantile colic is characterised by episodes of inconsolable crying, generally observed in the evening. Although these symptoms usually resolve spontaneously in the first six months of life, they often cause parental anxiety, leading to repeated medical appointments in search for help. Despite 40 years of research, the causes of this disorder are still unclear; hypersensitivity to cow’s milk protein, lactose intolerance, impaired gut microbiota, immaturity of the nervous system, the negative impact of tobacco smoke, inappropriate childcare techniques and psychosocial factors are believed to be involved in the pathogenesis. The treatment involves behavioural methods, i.e. reducing infant exposure to external stimuli. Breastfeeding mothers are advised to eliminate caffeine and hot spices from their diet and, in some cases, switch to a dairy-free diet. For formula-fed infants, it is recommended to use hydrolysates with a high degree of hydrolysis. Simethicone is commonly used in the pharmacological treatment as it reduces the surface tension of intestinal gases, enabling their easier elimination. The Rome III Diagnostic Criteria recommend to appropriately continue any method if considered effective by the parents, provided that there are no harmful consequences.

TFG-MET fusion in an infantile spindle cell sarcoma with neural features

NARCIS (Netherlands)

Flucke, U.E.; Noesel, M.M. van; Wijnen, M.; Zhang, L.; Chen, C.L.; Sung, Y.S.; Antonescu, C.R.

2017-01-01

An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell

El maltrato y el abuso infantil: una propuesta de intervención

OpenAIRE

Martín-Jimeno, Arantzazu

2014-01-01

El presente trabajo de fin de grado versa sobre el maltrato infantil y el abuso sexual en especial, realizando una propuesta de intervención para su prevención en segundo ciclo de Educación Infantil. En la primera parte se realiza un recorrido teórico por los conceptos más significativos, como la definición, tipología, factores de riesgo y protectores, efectos y situación del maltrato infantil y del abuso sexual en particular. En la segunda parte se presenta una propuesta de in...

La Muerte en la Lírica Infantil Colonial Mexicana

Directory of Open Access Journals (Sweden)

Elsa Malvido

2008-06-01

Full Text Available En este trabajo presentaremos la importancia que la lírica infantil tuvo en la implantación de la cultura occidental en la Nueva España, rastrearemos sus orígenes, intenciones y permanencia en México, destacando uno de sus elementos más constantes: la muerte, así como el papel que desempeñó en las mentes infantiles que la cantaron y representaron. Podrán preguntarse ¿por qué la muerte? y responderemos que después de la conquista castellana de estas tierras, la muerte fue constante, masiva, cotidiana y permanente, todo lo cual se reflejó en las coplas populares; por ejemplo, en el material que hemos consultado compuesto de 193 canciones infantiles, en más de la mitad de ellas se hace referencia, se le menciona, nombra o es el título de las mismas.

LA MUERTE EN LA LÍRICA INFANTIL COLONIAL MEXICANA

Directory of Open Access Journals (Sweden)

Elsa Malvido

2008-06-01

Full Text Available En este trabajo presentaremos la importancia que la lírica infantil tuvo en la implantación de la cultura occidental en la Nueva España, rastrearemos sus orígenes, intenciones y permanencia en México, destacando uno de sus elementos más constantes: la muerte, así como el papel que desempeñó en las mentes infantiles que la cantaron y representaron. Podrán preguntarse ¿por qué la muerte? y responderemos que después de la conquista castellana de estastierras, la muerte fue constante, masiva, cotidiana y permanente, todo lo cual se reflejó en las coplas populares; por ejemplo, en el material que hemos consultado compuesto de 193 canciones infantiles, en más de la mitad de ellas se hace referencia, se le menciona, nombra o es el título delas mismas

Learning Recruits Neurons Representing Previously Established Associations in the Corvid Endbrain.

Science.gov (United States)

Veit, Lena; Pidpruzhnykova, Galyna; Nieder, Andreas

2017-10-01

Crows quickly learn arbitrary associations. As a neuronal correlate of this behavior, single neurons in the corvid endbrain area nidopallium caudolaterale (NCL) change their response properties during association learning. In crows performing a delayed association task that required them to map both familiar and novel sample pictures to the same two choice pictures, NCL neurons established a common, prospective code for associations. Here, we report that neuronal tuning changes during learning were not distributed equally in the recorded population of NCL neurons. Instead, such learning-related changes relied almost exclusively on neurons which were already encoding familiar associations. Only in such neurons did behavioral improvements during learning of novel associations coincide with increasing selectivity over the learning process. The size and direction of selectivity for familiar and newly learned associations were highly correlated. These increases in selectivity for novel associations occurred only late in the delay period. Moreover, NCL neurons discriminated correct from erroneous trial outcome based on feedback signals at the end of the trial, particularly in newly learned associations. Our results indicate that task-relevant changes during association learning are not distributed within the population of corvid NCL neurons but rather are restricted to a specific group of association-selective neurons. Such association neurons in the multimodal cognitive integration area NCL likely play an important role during highly flexible behavior in corvids.

Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

Science.gov (United States)

2013-01-01

Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is

Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers

International Nuclear Information System (INIS)

Chodirker, B.N.; Greenberg, C.R.; Manitoba Univ., Winnipeg, MB; Roy, D.; Cheang, M.; Evans, J.A.; Manitoba Univ., Winnipeg, MB; Manitoba Univ., Winnipeg, MB; Reed, M.H.; Manitoba Univ., Winnipeg, MB

1991-01-01

Hand radiographs of 49 carriers of infantile hypophosphatasia and 67 non-carriers were evaluated using two Apple IIe Computer Programs and Apple Graphics Tablet. CAMPS was used to determine the bone lengths and calculate the metacarpophalangeal profiles. A newly developed program (ADAM) was used to determine bone density based on percent cortical area of the second metacarpal. Carriers of infantile hypophosphatasia had significantly less dense bones. (orig.)

Las inteligencias múltiples en Educación Infantil

OpenAIRE

Ceballos González, Eric

2015-01-01

El objetivo del presente trabajo fin de grado es dar una visión de la posibilidades que nos ofrece las inteligencias múltiples para trabajarlas en la educación infantil. Apoyándose en la base de la las teorías de la inteligencia y los avances de la misma hasta llegar a la teoría de las Inteligencias múltiples. Tomando como mayor representante de dicha teoría a Howard Gadner Grado en Educación Infantil

El diagnóstico positivo de autismo infantil

OpenAIRE

Velázquez Argota, Juana; Lozano Pérez, Teresa

1996-01-01

Se revisan los límites del síndrome autístico y la evolución del concepto de autismo infantil desde Kanner hasta las clasificaciones psiquiátricas más recientes. Se informan los resultados de nuestras investigaciones en el diagnóstico positivo del autismo infantil. La anamnesis remota es de poco valor, más relevantes para el diagnóstico constituyen el examen del paciente en el presente y las escalas de cuantificación del autismo (las cuales son de utilidad en el diagnóstico diferencial entre ...

EL JUEGO SIMBÓLICO, EN EL APRENDIZAJE INFANTIL

OpenAIRE

Mirás-Puente, Tania

2013-01-01

El presente Trabajo de Fin de Grado, en la especialidad Maestro en Educación Infantil, está centrado en la presentación de una propuesta de intervención, fundamentalmente lúdica, cuyo fin es aportar un recurso a los docentes atendiendo a diferentes tipos de aprendizajes. El carácter lúdico es considerado, ya que el juego es uno de los enfoques metodológicos en la etapa infantil. Esta metodología, sostenida en una motivación de aprendizaje, promoverá un ambiente adecuado para la construcción d...

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family

Science.gov (United States)

Korvatska, Olena; Leverenz, James B.; Jayadev, Suman; McMillan, Pamela; Kurtz, Irina; Guo, Xindi; Rumbaugh, Malia; Matsushita, Mark; Girirajan, Santhosh; Dorschner, Michael O.; Kiianitsa, Kostantin; Yu, Chang-En; Brkanac, Zoran; Garden, Gwenn A.; Raskind, Wendy H.; Bird, Thomas D.

2016-01-01

Importance The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. Objective To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases. Design, Setting, and Participants This study includes genetic and pathologic studies of families with LOAD from 1985 to 2014. A total of 131 families with LOAD (751 individuals) were included from the University of Washington Alzheimer Disease Research Center. To identify LOAD genes/risk factors in the LOAD123 family with 21 affected members and 12 autopsies, we sequenced 4 exomes. Candidate variants were tested for cosegregation with the disease. TREM2 R47H was genotyped in an additional 130 families with LOAD. We performed clinical and neuropathological assessments of patients with and without R47H and evaluated the variant's effect on brain pathology, cellular morphology, and expression of microglial markers. Main Outcomes and Measures We assessed the effect of TREM2 genotype on age at onset and disease duration. We compared Braak and Consortium to Establish a Registry for Alzheimer's Disease scores, presence of α-synuclein and TAR DNA-binding protein 43 aggregates, and additional vascular or Parkinson pathology in TREM2 R47H carriers vs noncarriers. Microglial activation was assessed by quantitative immunohistochemistry and morphometry. Results Twelve of 16 patients with AD in the LOAD123 family carried R47H. Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes. We also found a rare missense variant, D353N, in a nominated AD risk gene, unc-5 homolog C (UNC5C), in 5 affected individuals in the LOAD123 family. R47H carriers demonstrated a shortened disease duration (mean [SD], 6.7 [2.8] vs 11.1 [6.6] years; 2-tailed t test; P = .04) and more frequent α-synucleinopathy. The

Cultura, self e autonomia: bases para o protagonismo infantil

Directory of Open Access Journals (Sweden)

Sergio Fernandes Senna Pires

Full Text Available Neste artigo são discutidas as bases do protagonismo (ou participação infantil na sociedade: cultura, construção do self e autonomia. São apresentados os principais fundamentos teóricos da abordagem sociocultural construtivista ao se discutir o self como sistema complexo e dinâmico, co-construído mediante a interação entre sujeito ativo e canalizações culturais. Diante das práticas culturais relacionadas à institucionalização da infância, analisam-se como crenças e valores podem contribuir para a participação infantil nos processos decisórios e para a superação das limitações atuais. Conclui-se que a abordagem co-construtivista, efetivamente, pode contribuir para a promoção do protagonismo infantil, visto que destaca as dimensões da cultura e do sujeito construtivo, aí implicadas.

Management of infantile hemangiomas: Current trends

Directory of Open Access Journals (Sweden)

Gomathy Sethuraman

2014-01-01

Full Text Available Infantile hemangiomas (IH are common vascular tumours. IH have a characteristic natural course. They proliferate rapidly during the early infantile period followed by a period of gradual regression over several years. Most of the uncomplicated IH undergo spontaneous involution, with a small proportion of cases requiring intervention. These are children with IH in life-threatening locations, local complications like haemorrhage, ulceration and necrosis and functional or cosmetic disfigurements. Systemic corticosteroids have been the first line of treatment for many years. Recently, non-selective beta-blockers, such as oral propranalol and topical timolol, have emerged as promising and safer therapies. Other treatment options include interferon α and vincristine which are reserved for life-threatening haemangiomas that are unresponsive to conventional therapy. This review mainly focuses on the current trends and evidence-based approach in the management of IH.

Lógico matemática y psicomotricidad en Educación Infantil

OpenAIRE

Carrera Alonso, Ana

2015-01-01

El presente trabajo tiene dos partes diferenciadas: una primera, sobre la investigación entre los nexos o solapamientos que unen la psicomotricidad y la lógico-matemática en educación infantil y, otra fase, es una propuesta de intervención en el aula para desarrollar la lógica-matemática y la psicomotricidad en el tercer curso del segundo ciclo de la Educación Infantil. Además se añaden una serie de conclusiones y reflexiones sobre lo anteriormente señalado. Grado en Educación Infantil...

Fonoaudiologia e educação infantil: uma parceria necessária Speech therapy and infantile education: a necessary partnership

OpenAIRE

Poliana Carla Santos Maranhão; Sabrina Maria Pimentel da Cunha Pinto; Cristiane Monteiro Pedruzzi

2009-01-01

OBJETIVO: investigar as informações que os professores de educação infantil possuem em relação a Fonoaudiologia na escola, bem como sobre temas ligados à área de linguagem. MÉTODOS: foi aplicado um questionário, contendo 17 questões objetivas em uma amostra com 73 professores de educação infantil da rede municipal de ensino da cidade de Maceió-AL. RESULTADOS: os participantes relacionaram a atuação fonoaudiológica na escola à presença de alterações no desenvolvimento da criança. O índice de p...

Selenium content of tissues in Finnish infants and adults with various diseases, and studies on the effects of selenium supplementation in neuronal ceroid lipofuscinosis patients

International Nuclear Information System (INIS)

Westermarck, T.

1977-01-01

A low blood selenium level has previously been observed in healthy inhabitants of Finland. In this study even lower blood selenium values were observed in patients with acrodermatitis enteropathica, dystrophia musculorum progressiva (Duchenne), infantile and juvenile type of neuronal ceroid lipofuscinosis (NCL), severe mental retardation caused by various factors, and myocardial infarction. The selenium content of the brain, heart, kidney and liver in patients of different ages was also determined. The highest selenium level was found in the kidney. The mean liver selenium concentrations in stillborn, premature and full-term neonates were 1.11 plus minus 0.23 (8), 1.21 plus minus 0.17 (12) and 0.93 plus minus 0.16 μg/g dry weight (12) respectively (the number of subjects in parentheses). The selenium values are considerably higher than those in infants of from one to nine months of age and adults, whose liver selenium values were 0.58 plus minus 0.21 (8) and 0.67 plus minus 0.08 μg/g dry weight (8) respectively. The vitamin E levels of serum in patients with NCL, as well as in subjects with severe mental retardation (controls), were low compared with values in healthy normal subjects. Sodium selenite supplementation in patients with NCL produced at least a transitory improvement without causing any toxic effects during one year of administration. (author)

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.

Science.gov (United States)

Pontikis, Charlie C; Cella, Claire V; Parihar, Nisha; Lim, Ming J; Chakrabarti, Shubhodeep; Mitchison, Hannah M; Mobley, William C; Rezaie, Payam; Pearce, David A; Cooper, Jonathan D

2004-10-15

Mouse models of neuronal ceroid lipofuscinosis (NCL) exhibit many features of the human disorder, with widespread regional atrophy and significant loss of GABAergic interneurons in the hippocampus and neocortex. Reactive gliosis is a characteristic of all forms of NCL, but it is unclear whether glial activation precedes or is triggered by neuronal loss. To explore this issue we undertook detailed morphological characterization of the Cln3 null mutant (Cln3(-/-)) mouse model of juvenile NCL (JNCL) that revealed a delayed onset neurodegenerative phenotype with no significant regional atrophy, but with widespread loss of hippocampal interneurons that was first evident at 14 months of age. Quantitative image analysis demonstrated upregulation of markers of astrocytic and microglial activation in presymptomatic Cln3(-/-) mice at 5 months of age, many months before significant neuronal loss occurs. These data provide evidence for subtle glial responses early in JNCL pathogenesis.

CEREN: un centro enfocado en la calidad de vida de la población infantil

OpenAIRE

Centeno, Analía

2016-01-01

El Centro de Estudios en Nutrición y Desarrollo Infantil (CEREN) aborda e interviene en problemáticas de alimentación, nutrición, cuidados, crecimiento y desarrollo infantil. Fue creado con un claro enfoque social, integral y multidisciplinario con el fin de mejorar la calidad de vida de la población infantil de la Provincia.

Manipulative therapies for infantile colic

NARCIS (Netherlands)

Dobson, D.; Lucassen, P.L.; Miller, J.J.; Vlieger, A.M.; Prescott, P.; Lewith, G.

2012-01-01

BACKGROUND: Infantile colic is a common disorder, affecting around one in six families, and in 2001 was reported to cost the UK National Health Service in excess of pound65 million per year (Morris 2001). Although it usually remits by six months of age, there is some evidence of longer-term sequelae

Probable late lyme disease: a variant manifestation of untreated Borrelia burgdorferi infection

Science.gov (United States)

2012-01-01

Background Lyme disease, a bacterial infection with the tick-borne spirochete Borrelia burgdorferi, can cause early and late manifestations. The category of probable Lyme disease was recently added to the CDC surveillance case definition to describe patients with serologic evidence of exposure and physician-diagnosed disease in the absence of objective signs. We present a retrospective case series of 13 untreated patients with persistent symptoms of greater than 12 weeks duration who meet these criteria and suggest a label of ‘probable late Lyme disease’ for this presentation. Methods The sample for this analysis draws from a retrospective chart review of consecutive, adult patients presenting between August 2002 and August 2007 to the author (JA), an infectious disease specialist. Patients were included in the analysis if their current illness had lasted greater than or equal to 12 weeks duration at the time of evaluation. Results Probable late Lyme patients with positive IgG serology but no history of previous physician-documented Lyme disease or appropriate Lyme treatment were found to represent 6% of our heterogeneous sample presenting with ≥ 12 weeks of symptom duration. Patients experienced a range of symptoms including fatigue, widespread pain, and cognitive complaints. Approximately one-third of this subset reported a patient-observed rash at illness onset, with a similar proportion having been exposed to non-recommended antibiotics or glucocorticosteroid treatment for their initial disease. A clinically significant response to antibiotics treatment was noted in the majority of patients with probable late Lyme disease, although post-treatment symptom recurrence was common. Conclusions We suggest that patients with probable late Lyme disease share features with both confirmed late Lyme disease and post-treatment Lyme disease syndrome. Physicians should consider the recent inclusion of probable Lyme disease in the CDC Lyme disease surveillance

El rol del monstruo en las narraciones audiovisuales dirigidas a los niños y niñas. Un análisis semiótico cultural a través del dibujo infantil

Directory of Open Access Journals (Sweden)

Pedro Chacón

2015-02-01

Full Text Available Esta investigación, basándose en los resultados de un estudio piloto que revelaba la importancia del monstruo como personaje para los niños/as de entre 5 y 6 años, se focaliza en el análisis de esta figura como arquetipo recurrente en los productos de la cultura visual infantil contemporánea. Para ello, la metodología empleada se divide en dos etapas diferenciadas: Una primera fase analítica –que pretende ahondar en los significados otorgados a esta figura en el audiovisual infantil de las últimas décadas– y una segunda fase empírica –que se sirve del dibujo infantil, la entrevista desestructurada y el análisis semiótico cultural para observar cómo interpretan los niños/as el rol de este personaje en las historias o narraciones de las que son receptores–. Como resultado se elabora una clasificación que agrupa bajo una serie de categorías básicas, las que podrían ser las variantes más importantes de este personaje dentro del audiovisual infantil. Posteriormente, se comparan estas tipologías definidas con los dibujos realizados por 41 niños/as de Educación Infantil de la ciudad de Granada. En base a esa comparativa se pone de manifiesto, no sólo que el monstruo constituye un símbolo cultural concreto dentro del audiovisual infantil, sino también que los niños/as más pequeños son perfectamente capaces de asimilar los diferentes papeles que éste desempeña dentro de las narraciones.Cómo referenciar este artículo Chacón, P., Morales, X. (2015. El rol del monstruo en las narraciones audiovisuales dirigidas a los niños y niñas. Un análisis semiótico cultural a través del dibujo infantil. Foro de Educación, 13(18, pp. 51-68. doi: http://dx.doi.org/10.14516/fde.2015.013.018.003

ATENCIÓN INFANTIL TEMPRANA EN ESPAÑA

Directory of Open Access Journals (Sweden)

María Auxiliadora Robles-Bello

2013-05-01

Full Text Available Este artículo pretende destacar un ámbito de trabajo de la Psicología Clínica que se ha convertido en una disciplina propia de actuación en la población infantil, para ello se trata de esclarecer el concepto actual de atención temprana y su estructuración territorial vigente en nuestro país. Comenzamos por una definición general de la atención infantil temprana, se continúa especificando los inicios de la atención temprana en España y sus pioneros para finalizar planteando como se estructura este servicio en las diversas Comunidades Autónomas, y en particular en la Comunidad Autónoma de Andalucía.

El manejo de la diabetes en educación infantil

OpenAIRE

Espinosa Fernández, Lucía

2013-01-01

Los objetivos principales de este trabajo son dar a conocer la diabetes Tipo 1 en la escuela a toda la comunidad educativa e integrar al alumno que padece esta enfermedad en el aula. Por ello, se ha diseña un plan de actuación para que puedan llevarlo a cabo en las aulas de Educación Infantil e implicar alumnos, maestros y padres con esta enfermedad Grado en Educación Infantil

Ciencias Experimentales en el aula de Educación Infantil

OpenAIRE

Zamalloa Echevarría, Teresa

2013-01-01

Duración (en horas): Más de 50 horas, Destinatario: Estudiante Mediante la metodología de ABP el alumnado de tercer curso del grado de Educación infantil elaborará propuestas didácticas en grupos para el estudio de los contenidos de ciencias experimentales empleando diferentes estrategias y recursos didácticos para la enseñanza/aprendizaje del medio físico y natural en Educación Infantil.

Mortalidad infantil: Análisis de un decenio

Directory of Open Access Journals (Sweden)

Rogelio León López

1998-12-01

Full Text Available Se efectúo un estudio descriptivo y retrospectivo con la finalidad de conocer el comportamiento de la mortalidad infantil en el policlínico docente "30 de Noviembre" durante el decenio 1985-1994. El universo de estudio estuvo conformado por los 29 fallecidos menores de un año ocurridos en el período referido en dicha área de salud. Se calculó la tasa de mortalidad infantil en sus diferentes componentes en cada año motivo de estudio. Se encontró que la tasa de mortalidad infantil en nuestra área tiene un comportamiento cíclico, que la mortalidad neonatal precoz fue la que más fallecidos aportó y que las principales causas de muerte fueron la sepsis, el bajo peso al nacer y la hipoxia. Se enfatiza en la importancia de establecer un Plan de Medidas encaminado a disminuir la mortalidad infantil del áreaA descriptive and retrospective study was conducted aimed at knowing the behavior of infant mortality rate at the "30 de Noviembre" Teaching Polyclinic from 1985 to 1994. The 29 infants under one year who died in that health area during that period were studied. Infant mortality rate in its different components was calculated by every year under study. It was found that infant mortality rates in our area had a cyclical behavior, that early neonatal mortality had the highest number of deaths, and that the main cause of death were sepsis, low birth weight and hypoxia. Emphasis is made on the need of implementing a plan of measures to reduce infant mortality rate in the area

Intervención de educación intercultural en educación infantil

OpenAIRE

López Pastor, Claudia

2012-01-01

Este trabajo abarca el tema de la interculturalidad, y más concretamente la interculturalidad en infantil. Para llevar a cabo esta propuesta he realizado una serie de actividades relacionadas con el juego para que sean trabajadas con los niños y las niñas de educación infantil de cinco y seis años. Todo ello ha sido diseñado basándome en un marco teórico que recoge ideas y conocimientos de diferentes autores. Grado en Educación Infantil

VIOLENCIA FAMILIAR Y MALTRATO INFANTIL

Directory of Open Access Journals (Sweden)

María Inés Bringiotti

2005-01-01

Full Text Available Este trabajo analiza las implicaciones del concepto "familia" señalando la multiplicidad de fenómenos y situaciones incluidos en el mismo. Su elucidación permitirá determinar los diversos tipos de familia y de riesgo que podemos encontrar en nuestro trabajo cotidiano. La evolución de ese concepto está directamente influida por las determinantes socioestructurales y culturales que en cada momento histórico contextualizan a los sujetos, así como las posibles situaciones de riesgo que deben enfrentar y los recursos con los que cuentan. Se analiza la influencia de las representaciones acerca de cómo debe ser una familia, en la actualidad las familias presentan diferentes formas o estructuras y ello no implica el cumplimiento o no de sus funciones. Esto permitirá establecer adecuadamente las diferentes estrategias de prevención y abordaje aplicables a cada situación. Se ejemplificará concretamente con situaciones problemáticas relacionados a los casos de violencia familiar y maltrato infantil, concretamente con la negligencia y el abuso sexual infantil.

Fonoaudiologia e educação infantil: uma parceria necessária Speech therapy and infantile education: a necessary partnership

Directory of Open Access Journals (Sweden)

Poliana Carla Santos Maranhão

2009-03-01

Full Text Available OBJETIVO: investigar as informações que os professores de educação infantil possuem em relação a Fonoaudiologia na escola, bem como sobre temas ligados à área de linguagem. MÉTODOS: foi aplicado um questionário, contendo 17 questões objetivas em uma amostra com 73 professores de educação infantil da rede municipal de ensino da cidade de Maceió-AL. RESULTADOS: os participantes relacionaram a atuação fonoaudiológica na escola à presença de alterações no desenvolvimento da criança. O índice de professores da amostra que obtiveram contato com o fonoaudiólogo na escola é de 4,1%. Estes educadores relatam que apenas 57,5% receberam informações sobre a aquisição de linguagem e o desenvolvimento da escrita. CONCLUSãO: com a realização da presente pesquisa foi possível confirmar a necessidade de reforçar as ações fonoaudiológicas na escola, bem como a parceria entre fonoaudiólogos e professores.PURPOSE: to investigate the knowledge of infantile education teachers about the speech therapy at school, as well as on subjects regarding language area. METHODS: 73 infantile education teachers in public schools of Maceió-AL answered a questionnaire containing 17 objective questions. RESULTS: the participants related the performance of speech therapy staff at schools to the presence of alterations in children development. Only 4.1% of the teachers have had contact with some speech therapist at school. These educators report that only 57.5% received information about language acquisition and development of writing. CONCLUSION: upon accomplishing this research it was possible to confirm the necessity for reinforcing speech therapy related actions in school, as well as the partnership among speech therapists and teachers.

Lectura e Inteligencias Múltiples en Educación Infantil

OpenAIRE

Carretero-Delgado, Susana

2013-01-01

El fracaso escolar tiene consecuencias negativas importantes tanto a nivel individual como social. Los problemas de lectura son unas de las principales causas de este fracaso. En este trabajo de investigación se ha hecho una exploración sobre el rendimiento lector con alumnos de Educación Infantil para establecer su posible relación con las inteligencias múltiples. Se evaluaron 30 alumnos de Educación Infantil de entre 5 y 6 años con el cuestionario de inteligencias múltiples y una prueba de ...

Linear Nevus Sebaceum Syndrome and Infantile Spasms

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2008-03-01

Full Text Available Two infants with linear nevus sebaceum syndrome and infantile spasms are reported from Safra Childrens Hospital, Sheba Medical Center, Tel Hashomer, Israel; and Hospital for Sick Children, Toronto, Canada.

O desenvolvimento corporal na educação infantil

Directory of Open Access Journals (Sweden)

Adriana Pacheco da Silva Santos

2011-12-01

Full Text Available Este artigo é resultado de um estudo realizado em uma creche pública pertencente à rede municipal de educação de Sinop - MT. Objetivamos compreender o movimento corporal das crianças como parte do desenvolvimento integral das crianças. E também entender como os profissionais trabalham a especificidade do corpo infantil, dos movimentos das crianças durante a rotina da instituição de uma turma de crianças de dois a três anos de idade. Optamos em focalizar a pesquisa na área da Educação Infantil por entender que as crianças desta faixa etária apresentam características importantes no desenvolvimento corporal, visto que muitas vezes na educação infantil o movimento é considerado como ‘indisciplina’, fazendo com que a criança, na maioria das vezes permanece quietas e sentadas em suas cadeiras. Diante de tal propósito, buscamos uma metodologia que nos possibilitasse apreender o movimento corporal da criança e encontramos na pesquisa qualitativa, através da ‘observação participante’, trilhas que nos conduziram à construção de conhecimentos. Como pesquisadora, permanecemos na instituição investigada por quase três meses, em horários intercalados, utilizando o caderno de campo, no qual registramos as observações realizadas, bem como as entrevistas com as professoras da referida turma. Os principais referenciais utilizados para o estudo foram: Vygotsky, Piaget, Vitor Fonseca e Henri Wallon. De acordo com o observado em campo e leituras teóricas, ressaltamos com este estudo a importância do movimento para as crianças e sua contribuição no desenvolvimento infantil pleno.Palavras-chave: educação; educação infantil; maternal II; movimento; sociointeracionismo.

Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

Science.gov (United States)

Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

2016-04-01

Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity.

Infantile pyoderma gangrenosum.

LENUS (Irish Health Repository)

McAleer, Maeve A

2008-02-01

Pyoderma gangrenosum (PG) is rare in infants. There have been 12 cases of PG in infants (<12 months old) reported in the past 25 years, to our knowledge. Six of these cases have been successfully controlled with systemic steroids, and one case with topical steroids alone. We report a case of an 8-month-old infant whose PG was aggressive and unresponsive to systemic steroids. Adjuvant treatment with cyclosporine was required to achieve healing. We review the previous cases of infantile PG and the therapeutic options in this age group.

Hipoacusia neurosensorial infantil

OpenAIRE

Santos Santos, Saturnino

2004-01-01

En nuestro medio existe un déficit de información acerca de la importancia de los factores de riesgo implicados en la aparición de hipoacusia neurosensorial infantil y de las etiologías encontradas. Se estudió retrospectivamente una población de 2.656 niños enviados a nuestro centro para valoración auditiva por presentar factores de riesgo. 481 niños fueron diagnosticados de hipoacusia neurosensorial uni o bilateral de cualquier grado. La edad media al diagnóstico de hipoacusia neurosensorial...

Failure to thrive and cognitive development in toddlers with infantile anorexia.

Science.gov (United States)

Chatoor, Irene; Surles, Jaclyn; Ganiban, Jody; Beker, Leila; Paez, Laura McWade; Kerzner, Benny

2004-05-01

The goal of this study was to examine the relative contributions of growth deficiency and psychosocial factors to cognitive development in toddlers with infantile anorexia. Eighty-eight toddlers, ranging in age from 12 to 33 months, were enrolled in this study. Toddlers were evaluated by 2 child psychiatrists and placed into 1 of 3 groups: infantile anorexia, picky eater, and healthy eater. All 3 groups were matched for age, race, gender, and socioeconomic status (SES). Toddlers underwent nutritional evaluations and cognitive assessments with the Bayley Scales of Infant Development. Toddlers and their mothers were also videotaped during feeding and play interactions, which later were rated independently by 2 observers. On average, toddlers with infantile anorexia performed within the normal range of cognitive development. However, the Mental Developmental Index (MDI) scores of the healthy eater group (MDI = 110) were significantly higher than those of the infantile anorexia (MDI = 99) and picky eater (MDI = 96) groups. Within the infantile anorexia group, correlations between MDI scores and the toddlers' percentage of ideal body weight approached statistical significance (r =.32). Across all groups, the toddlers' MDI scores were associated with the quality of mother-child interactions, SES level, and maternal education level. Collectively, these variables explained 22% of the variance in MDI scores. This study demonstrated that psychosocial factors, such as mother-toddler interactions, maternal education level, and SES level, are related to the cognitive development of toddlers with feeding problems and explain more unique variance in MDI scores than nutritional status.

Quantitative analysis of infantile ureteropelvic junction obstruction by diuretic renography

Energy Technology Data Exchange (ETDEWEB)

Ueno, Shigeru; Suzuki, Yutaka; Murakami, Takeshi; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Makuuchi, Hiroyasu [Tokai Univ., Isehara, Kanagawa (Japan). School of Medicine

2001-04-01

Infantile hydronephrosis detected by ultrasonography poses a clinical dilemma on how to treat the condition. This article reports a retrospective study to evaluate infantile hydronephrosis due to suspected ureteropelvic junction (UPJ) obstruction by means of standardized diuretic renography and to speculate its usefulness for quantitative assessment and management of this condition. Between November 1992 and July 1999, 43 patients who had the disease detected in their fetal or infantile period were submitted to this study. Standardized diuretic renograms were obtained with {sup 99m}Tc-labeled diethylene-triaminepenta-acetate (Tc-99m-DTPA) or {sup 99m}Tc-labeled mercaptoacetyl triglycine (Tc-99m-MAG3) as radiopharmaceuticals. Drainage half-time clearance (T 1/2) of the activity at each region of interest set to encompass the entire kidney and the dilated pelvis was used as an index of quantitative analysis of UPJ obstruction. Initial T 1/2s of 32 kidneys with suspected UPJ obstruction were significantly longer than those of 37 without obstruction. T 1/2s of kidneys which had undergone pyeloplasty decreased promptly after surgery whereas those of units followed up without surgery decreased more sluggishly. These findings demonstrate that a standardized diuretic renographic analysis with T 1/2 can reliably assess infantile hydronephrosis with UPJ obstruction and be helpful in making a decision on surgical intervention. (author)

Quantitative analysis of infantile ureteropelvic junction obstruction by diuretic renography

International Nuclear Information System (INIS)

Ueno, Shigeru; Suzuki, Yutaka; Murakami, Takeshi; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Makuuchi, Hiroyasu

2001-01-01

Infantile hydronephrosis detected by ultrasonography poses a clinical dilemma on how to treat the condition. This article reports a retrospective study to evaluate infantile hydronephrosis due to suspected ureteropelvic junction (UPJ) obstruction by means of standardized diuretic renography and to speculate its usefulness for quantitative assessment and management of this condition. Between November 1992 and July 1999, 43 patients who had the disease detected in their fetal or infantile period were submitted to this study. Standardized diuretic renograms were obtained with 99m Tc-labeled diethylene-triaminepenta-acetate (Tc-99m-DTPA) or 99m Tc-labeled mercaptoacetyl triglycine (Tc-99m-MAG3) as radiopharmaceuticals. Drainage half-time clearance (T 1/2) of the activity at each region of interest set to encompass the entire kidney and the dilated pelvis was used as an index of quantitative analysis of UPJ obstruction. Initial T 1/2s of 32 kidneys with suspected UPJ obstruction were significantly longer than those of 37 without obstruction. T 1/2s of kidneys which had undergone pyeloplasty decreased promptly after surgery whereas those of units followed up without surgery decreased more sluggishly. These findings demonstrate that a standardized diuretic renographic analysis with T 1/2 can reliably assess infantile hydronephrosis with UPJ obstruction and be helpful in making a decision on surgical intervention. (author)

Ontogeny of memory: An update on 40 years of work on infantile amnesia.

Science.gov (United States)

Madsen, Heather Bronwyn; Kim, Jee Hyun

2016-02-01

Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions. Copyright © 2015 Elsevier B.V. All rights reserved.

The controversial role of food allergy in infantile colic: evidence and clinical management.

Science.gov (United States)

Nocerino, Rita; Pezzella, Vincenza; Cosenza, Linda; Amoroso, Antonio; Di Scala, Carmen; Amato, Francesco; Iacono, Giuseppe; Canani, Roberto Berni

2015-03-19

Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow's proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option.

Transumbilical laparoscopic treatment of Congenital Infantile Fibrosarcoma of the Ileum

Directory of Open Access Journals (Sweden)

G. Scirè

2014-08-01

Full Text Available Congenital-Infantile Fibrosarcoma (CIF is a malignant mesenchymal tumor representing 10-20% of soft-tissue tumors. Complete surgical resection is generally the treatment of choice. The most recurrent cytogenetic abnormality was identified as the traslocation t(12;15(p13:q25, which bears the fusion of Tel gene EVT6 with TrkC gene. This study describes a case of infantile fibrosarcoma of the ileum in a female newborn examined for intestinal occlusion and its laparoscopic treatment.

Psychiatric disorders in the parents of individuals with infantile autism: a case-control study

DEFF Research Database (Denmark)

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2007-01-01

The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA).......The rates and types of psychiatric disorders were studied in the parents of individuals with infantile autism (IA)....

Vecu de la grossesse et maladies infantiles chez les Mahou de la ...

African Journals Online (AJOL)

Il ressort que les femmes mahou de la ville de Bouaké associent les connaissances scientifiques et culturelles pour déterminer l'étiologie des maladies infantiles. Le non-respect des consultations prénatales, la mauvaise alimentation de la mère et l'insuffisance de repos favorisent les maladies infantiles. Dans la culture ...

Canine parvovirus: the worldwide occurrence of antigenic variants.

Science.gov (United States)

Miranda, Carla; Thompson, Gertrude

2016-09-01

The most important enteric virus infecting canids is canine parvovirus type 2 (CPV-2). CPV is the aetiologic agent of a contagious disease, mainly characterized by clinical gastroenteritis signs in younger dogs. CPV-2 emerged as a new virus in the late 1970s, which could infect domestic dogs, and became distributed in the global dog population within 2 years. A few years later, the virus's original type was replaced by a new genetic and antigenic variant, called CPV-2a. Around 1984 and 2000, virus variants with the single change to Asp or Glu in the VP2 residue 426 were detected (sometimes termed CPV-2b and -2c). The genetic and antigenic changes in the variants have also been correlated with changes in their host range; in particular, in the ability to replicate in cats and also host range differences in canine and other tissue culture cells. CPV-2 variants have been circulating among wild carnivores and have been well-documented in several countries around the world. Here, we have reviewed and summarized the current information about the worldwide distribution and evolution of CPV-2 variants since they emerged, as well as the host ranges they are associated with.

Infantile choriocarcinoma: a case report with MRI, angiography and bone scintigraphy

International Nuclear Information System (INIS)

Sashi, R.; Sato, K.; Hirano, H.; Tomura, N.; Watarai, J.; Ishida, A.; Morita, M.

1996-01-01

Infantile and maternal choriocarcinoma is a very rare disease. We report a case with the characteristic clinical features of infantile choriocarcinoma: developing anemia, hemorrhagic liver tumors, rapid progression to death and maternal choriocarcinoma. Bone scintigraphy showed increased uptake by the liver tumors. In this case there were two possible primary sites: the placenta of this pregnancy and a hydatidiform mole that had been present 2 years previously. (orig.). With 1 fig

La territorialidad de los cuerpos en el abuso sexual infantil intrafamiliar

Directory of Open Access Journals (Sweden)

Saldarriaga Pérez, Jorge Eduardo

2016-01-01

Full Text Available Durante los últimos años se ha dado una expansión del interés investigativo, además de acciones legales, en torno al abuso sexual infantil, considerado un delito que viola los derechos humanos y una constricción al desarrollo infantil. Esta problemática atraviesa diversos escenarios sociales, especialmente la familia, pensada como nicho de protección, seguridad y formación para los niños y niñas. Por lo tanto, desde el tema y el campo del abuso sexual infantil, se pretende en esta investigación comprender las prácticas culturales que sustentan esta problemática al interior de algunas familias en la ciudad de Pereira. Además, y desde este nudo problémico, planteamos una investigación cualitativa, con un marco epistémico desde el construccionismo social, como referente conceptual en el enfoque de la seguridad humana, con claves analíticas en la teoría de la estructuración y metodológicas desde la hermenéutica doble. El objetivo de la investigación fue comprender las prácticas culturales que sustentan el abuso sexual infantil al interior de algunas familias en la Ciudad de Pereira.

A splice variant of RILP induces lysosomal clustering independent of dynein recruitment

International Nuclear Information System (INIS)

Marsman, Marije; Jordens, Ingrid; Rocha, Nuno; Kuijl, Coenraad; Janssen, Lennert; Neefjes, Jacques

2006-01-01

The small GTPase Rab7 controls fusion and transport of late endocytic compartments. A critical mediator is the Rab7 effector RILP that recruits the minus-end dynein-dynactin motor complex to these compartments. We identified a natural occurring splice variant of RILP (RILPsv) lacking only 27 amino acids encoded by exon VII. Both variants bind Rab7, prolong its GTP-bound state, and induce clustering of late endocytic compartments. However, RILPsv does not recruit the dynein-dynactin complex, implicating exon VII in motor recruitment. Clustering might still occur via dimerization, since both RILP and RILPsv are able to form hetero- and homo-dimers. Moreover, both effectors compete for Rab7 binding but with different outcome for dynein-dynactin recruitment and transport. Hence, RILPsv provides an extra dimension to the control of vesicle fusion and transport by the small GTPase Rab7

Infantile holocord cellular ependymoma with communicating hydrocephalus: unusual presentation of a rare case.

Science.gov (United States)

Aryan, Saritha; Ghosal, Nandita; Aziz, Zarina A; Hegde, A S; Dadlani, Ravi

2014-01-01

We present a case of infantile holocord ependymoma in a 4-month-old boy who presented with infection of ventriculoperitoneal shunt done elsewhere for a communicating hydrocephalus. On magnetic resonance imaging, a diffuse holocord T2-hyperintense, T1-hypointense intramedullary bulky lesion with syringomyelia in the cervical level was seen. To the best of our knowledge, this is the first case of infantile holocord ependymoma. As the extent of morbidity associated with a spinal cord tumor is high, an increased level of suspicion and the need for a complete spinal cord screening in a case of infantile hydrocephalus without obvious clinical and radiological evidence of intracranial abnormality is emphasized.

Association of genetic variants in apoptosis genes FAS and FASL with radiation-induced late toxicity after prostate cancer radiotherapy

Energy Technology Data Exchange (ETDEWEB)

Thurner, E.M.; Krenn-Pilko, S.; Kapp, K.S.; Langsenlehner, T. [Medical University of Graz, Department of Therapeutic Radiology and Oncology, Graz (Austria); Langsenlehner, U. [Division of Internal Medicine, GKK Outpatient Department, Graz (Austria); Renner, W. [Medical University of Graz, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Graz (Austria); Gerger, A. [Medical University of Graz, Division of Oncology, Department of Internal Medicine, Graz (Austria)

2014-03-15

Fas ligand (FASL) triggers apoptotic cell death by cross-linking with its receptor FAS, and after irradiation, expression of FAS and FASL is increased. In the present study, we investigated the association between common polymorphisms in the genes for FAS and FASL and the risk of late side effects after radiotherapy for prostate cancer. The role of FAS (- 1377G > A, rs2234767 and - 670A > G, rs1800682) and FASL (- 844C > T, rs763110) gene polymorphisms in the development of high-grade late rectal and/or urinary toxicity (defined as late toxicity EORTC/RTOG grade ≥ 2) was analyzed in 607 prostate cancer patients treated with radiotherapy. DNA was isolated and the selected polymorphisms were determined by 5'-nuclease (TaqMan) assays. After a median follow-up time of 82 months, high-grade late rectal and/or urinary toxicity was observed in 175 patients (29.7 %). Univariate analysis revealed a significantly decreased risk of high-grade late toxicity in carriers of the FASL - 844T allele. After adjusting for covariates, patients harboring at least one - 844T allele (CT or TT genotype) remained at decreased risk of high-grade late toxicity compared with patients harboring the CC genotype [hazard ratio (HR) 0.585, 95 %CI 0.39-0.878; p = 0.010]. For patients with the - 844TT genotype, the HR was 0.404 (95 %CI 0.171-0.956; p = 0.039) in multivariate analysis. No significant associations were found for the remaining polymorphisms analyzed. These results provide the first evidence that the presence of the FASL - 844T variant allele may have a protective effect against the development of high-grade late rectal and/or urinary side effects after prostate cancer radiotherapy. (orig.) [German] Fas-Ligand (FASL) triggert durch Bindung an seinen Rezeptor FAS den apoptotischen Zelltod, desweiteren konnte nach Bestrahlung eine Ueberexpression von FAS und FASL beobachtet werden. Ziel der vorliegenden prospektiven Studie war die Untersuchung der Zusammenhaenge von

Un acercamiento al cuento infantil desde la perspectiva de género. Estereotipos en el cuento infantil

Directory of Open Access Journals (Sweden)

Nuria Méndez-Garita

2004-12-01

Full Text Available ¿Cuáles son los papeles que desempeñan cada una de las mujeres que son parte de la sociedad? ¿Cómo exige un hombre que se comporte una mujer? ¿Habrán cambiado los estereotipos femeninos y masculinos que muy claramente nos presentan los cuentos? ¿Seguimos propiciando como personas los estereotipos? ¿Se está dando la inversión tanto en los cuentos como en nuestras vidas? A partir de mito griego de la Medusa, se introduce el tema del género y la literatura, sobre todo en aquella que se reconoce como literatura infantil. Desde la perspectiva de género, se pueden tratar diferentes tópicos, en este caso, el artículo se centra en los estereotipos y confrontan los que se derivan de la mujer ángel y la mujer demonio. A lo largo de la historia, la elaboración del mundo simbólico, del significado y del sentido han estado en las mentes de los varones, los que han configurado una representación del mundo a su imagen y semejanza. Son ellos el prototipo, patrón y medida de lo existente. En los cuentos infantiles podemos ver claramente los estereotipos impuestos por la cultura patriarcal; pero también, cómo algunos de ellos son capaces de subvertir el orden establecido. Lo más importante es que la lectura de cuentos infantiles y de la literatura en general, sirve para movernos y conmovernos como lectores; para que nos marque, porque nos interpela.

Interdisciplinary management of infantile colic

Directory of Open Access Journals (Sweden)

Luis Miguel Becerra-Granados

2017-07-01

This article presents a structural review of evidence on the fundamentals and progress in the treatment of infantile colic, and compiles the characteristics of this pathology, the medical and nutritional therapeutic measures, the clinical approach and the techniques to help the patient and his family. This study seeks to provide technical tools to health professionals whose target population is children younger than 2 years of age.

Hypothyroidism in late-onset Pompe disease.

Science.gov (United States)

Schneider, Joseph; Burmeister, Lynn A; Rudser, Kyle; Whitley, Chester B; Jarnes Utz, Jeanine

2016-09-01

In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progressive muscle weakness and worsening respiratory function. Patients with late-onset forms of Pompe disease commonly complain of chronic fatigue and generalized muscle weakness prior to being diagnosed with Pompe disease, and this may lead to consideration of hypothyroidism in the differential diagnosis. This study aimed to evaluate the prevalence of hypothyroidism in the adult-onset form of Pompe disease. Electronic chart review was performed at the Advanced Therapies Clinic at the University of Minnesota Medical Center (UMMC) to identify patients with late-onset Pompe disease. The identified charts were reviewed for a co-diagnosis of hypothyroidism. A query was made to the clinical data repository at UMMC searching diagnosis ICD9 code 244.9 (hypothyroidism not otherwise specified) and/or presence of levothyroxine from 2011 to 2014 in patients 18 years of age and older. The clinical data repository found a prevalence of hypothyroidism of 3.15% (56,072 of 1,782,720 patients) in the adult patient population at UMMC. Ten adult patients with Pompe disease were identified, five with the diagnosis of hypothyroidism (50%, 95% CI: 23.7, 76.3, p Hypothyroidism was found at a higher prevalence in patients with late-onset Pompe disease compared to the general adult population at UMMC. Studies in larger populations of patients with Pompe disease would be needed to confirm an association of Pompe disease and hypothyroidism. Challenges include finding an adequate sample size, due the rarity of Pompe disease.

Espacio infantil y ludoteca

OpenAIRE

Lejarraga Molinero, Nekane

2009-01-01

Este proyecto desarrolla el estudio y análisis de un cambio de uso de un proyecto de uso administrativo en la ciudad de Pamplona. La realización de un cambio de uso de un edificio administrativo a un ESPACIO INFANTIL Y LUDOTECA en el barrio de la Rochapea. Se trata fundamentalmente de un centro lúdico junto al río Arga en el que puedan jugar y desarrollarse de una forma controlada los niños de este nuevo barrio.

Selvadministreret ventrikelsondeernaering hos et barn med infantil autisme

DEFF Research Database (Denmark)

Dyrborg, J

1991-01-01

An example of self-administered gastric tube nutrition in a boy aged 15 years with infantile autism is presented. The boy would neither eat nor drink in the normal manner since the age of eight years and has gradually administered tube-feeding himself. This patient does not fulfill the internatio......An example of self-administered gastric tube nutrition in a boy aged 15 years with infantile autism is presented. The boy would neither eat nor drink in the normal manner since the age of eight years and has gradually administered tube-feeding himself. This patient does not fulfill...... the international criteria for the diagnosis of anorexia nervosa. A possible etiological factor and the education/psychological attitudes to the compulsive symptom are discussed. Udgivelsesdato: 1991-Oct-14...

Determinantes sociais e psicológicos do comportamento alimentar infantil

OpenAIRE

Andrade, Maria da Graça Massano de Amorim de Mavigné, 1961-

2014-01-01

Tese de doutoramento, Psicologia (Psicologia da Saúde), Universidade de Lisboa, Faculdade de Psicologia, 2014 A redução da taxa de crescimento da obesidade infantil é um dos principais objetivos de saúde, a nível nacional e internacional, o que reforça a importância da aquisição de hábitos alimentares saudáveis nos primeiros anos da infância. Uma vasta evidência empírica aponta para a influência de uma multiplicidade de determinantes do comportamento alimentar infantil, sendo contudo neces...

Aproximación al discurso referido en el habla infantil

OpenAIRE

María José Gallucci; Yanira Pinto

2017-01-01

En aquest treball estudiem l’ús del discurs referit en la parla infantil. Descrivim l’estil directe, l’estil indirecte i les cites onomatopeiques des d’una perspectiva sintacticopragmàtica en una mostra de 28 parlants pertanyents al Corpus de habla infantil (Shiro, 1996) tenint en compte el tipus de cita, els marcs introductors, els verbs més freqüents que emmarquen les cites i l’atribució de la paraula. També indaguem, en funció del tipus de l’entrevista analitzada i de les ta...

Presentación Monográfico Educación Infantil

OpenAIRE

Fernández Martínez, Pilar; Ríos García, Isabel; Fernández Martínez, María del Pilar; Ramos Xavier, Gelta Terezinha

2016-01-01

En este Monográfico de la RIE hemos abordado aspectos teóricos y prácticos en distintos escenarios del quehacer educativo en la Educación Infantil que contribuyen al desarrollo social, afectivo, cognitivo y organizativo. En los trabajos que aparecen en él, de una alta calidad investigadora pero muy arraigados a las aulas y a las realidades cotidianas de la escuela infantil, encontramos un punto de unión bajo el enfoque sociocultural de los procesos de enseñanza y aprendizaje, que establece qu...

Significados culturais da asma infantil Cultural meanings of the infantile asthma

Directory of Open Access Journals (Sweden)

Mirna Albuquerque Frota

2008-06-01

Full Text Available OBJETIVO: Analisar os significados culturais da asma infantil com origem na mãe-cuidadora. PROCEDIMENTOS METODOLÓGICOS: Pesquisa qualitativa realizada em 2004, no município de Fortaleza, CE. Foi utilizada a observação participante com abordagem etnográfica e entrevistas com sete mães acompanhantes de seus filhos em unidade de emergência hospitalar. Os significados das falas das mães foram identificados utilizando-se a técnica de análise temática. ANÁLISE DOS RESULTADOS: Foram identificadas duas categorias de discussão; na primeira, "desinformação sobre a doença", foi possível perceber que as mães não são informadas sobre a doença do filho. Na segunda categoria, "cuidado cultural", as mães referem informações sobre os cuidados e utilizam recursos do saber popular para prevenir a asma dos filhos, como o cuidado ambiental e a utilização de remédios caseiros à base de plantas medicinais. CONCLUSÕES: As características de desinformação e desconhecimento materno em relação à asma do filho mostram a necessidade de haver um trabalho educativo intenso, dialógico e problematizador em estreita colaboração com o tratamento, visando à melhoria do prognóstico da doença.OBJECTIVE: To analyze the cultural meanings of infantile asthma from the perspective of the mother/carer of the child. METHODOLOGICAL PROCEDURES: Qualitative research conducted in 2004, in the city of Fortaleza (Northeastern Brazil. An ethnographic approach was utilized, consisting of participant observation and interviews with seven mothers, accompanying their children in a hospital emergency ward. Thematic analysis was the technique employed when identifying the meanings of mothers' discourse. ANALYSIS OF RESULTS: Two discussion categories were identified: "disinformation on illness" in which it was possible to perceive that the mothers were not informed with respect to their children's illness; and "cultural care" in which they relate information on

Educación sobre sexualidad en círculos infantiles

Directory of Open Access Journals (Sweden)

Arelys Martín Pérez

1998-04-01

Full Text Available Se evalúa la eficacia de un proyecto de educación sexual para niños asistentes a círculos infantiles, mediante un diseño cuasi-experimental. Se aplica un sistema de influencias educativas a un grupo estudio compuesto por preescolares del Círculo Infantil "Sonrisas Infantiles". Se evalúan los conocimientos iniciales y finales de éste y del grupo control perteneciente al Círculo Infantil "Sueños de Rosas", ambos del municipio Sancti Spíritus, pero de distintas áreas de salud. Se indica que la muestra total fue de 71 niños de ambos sexos; se realizan en total 22 actividades y se elabora una batería de 10 pruebas para medir de forma cualitativa los conocimientos de los preescolares sobre: conocimientos del propio cuerpo, identificación sexual y reproducción. Se demuestra la eficacia del proyecto por la diferencia significativa en las proporciones de respuestas correctas del grupo experimental con respecto al grupo control al final del experimentoSUMMARY: The effectiveness of a quasi-experimental design-based sex educational program for day-care center children is evaluated. An educational influence system is applied to an experimental group comprised of "Sonrisas Infantiles" day-care center pre-school children. The initial and final knowledge of the above-mentioned group and the control group from "Sueños de Rosa" day care center are assessed. Both day care centers are located in Sancti Spiritus municipality but in different health areas. The total sample covered 71 children of both sexes, 22 activities were carried out and a set of 10 tests for qualitatively measuring the pre-school children's knowledge on human body, sexual identification and reproduction was prepared. The project effectiveness is proved by the significant differences in correct answers between the experimental group and the control group at the end of the experiment

Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review

Directory of Open Access Journals (Sweden)

Majid Alfadhel

2017-10-01

Full Text Available Solute carrier family 19 (thiamine transporter, member 3 ( SCL19A3 gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infantile Leigh-like SLC19A3 gene defects of patients who died at 4 months of age with no response to a high dose of biotin and thiamine. In addition, we report a novel mutation that was not reported previously. Finally, we review the literature regarding early infantile Leigh-like SLC19A3 gene defects and compare the literature with our patient.

Cranial computed tomography in infantile spasms

International Nuclear Information System (INIS)

Howitz, P.; Neergaard, K.; Pedersen, H.

1990-01-01

Out of 109 children with infantile spasms (IS), prospectively tested during the years 1976 to 1979 in Denmark, 52 children were examined by cranial computed tomography (CT). The classification of IS into cryptogenic (CR), symptomatic (SY) and doubtful (DO) was done clinically without considering the CT-finding. Sixty per cent of the scannings were abnormal. Only 6/30 (20%) of the children in ACTH treatment were found to develop cerebral atrophy which means that this finding is not an obligatory side-effect of ACTH treatment of children with IS. Normal CT-findings were found in 50% of the CR and 50% of the SY + DO-groups, and could not be used as a prognostic tool for estimating the mental development. This was also the case for children with cerebral atrophy. Abnormal CT-findings (minus atrophy) were highly correlated to the group with clinical symptoms and indicate an extremely unsatisfying long-term mental prognosis. CT-scanning is a valuable tool for the examination of clearing children with infantile spasms. (authors)

Competencias desde la perspectiva intercultural para el grado de educación infantil

Directory of Open Access Journals (Sweden)

Fernando GONZÁLEZ ALONSO

2005-01-01

adecuar sus titulaciones hacia el Espacio Europeo de Educación Superior, a través de la planificación de los grados en Educación Infantil y Educación Primaria. La propuesta de competencias específicas desde la perspectiva intercultural para Educación infantil, puede resultar un interesante punto de partida.

La obesidad infantil /

OpenAIRE

Galea Barquero, Irene

2013-01-01

La obesidad infantil es la enfermedad de tipo nutricional que se da con más frecuencia en los niños de los países desarrollados, conlleva riesgos físicos y psicológicos y determinados estudios señalan que puede acortar la esperanza de vida en 13 años. En Castilla y León, la tasa de obesidad entre los niños en edad escolar es del 0,8%. La autora va a recoger datos y a realizar un estudio del desayuno que realizan estos niños por considerarlo la primera comida del día y la más importa...

XRCC1 Polymorphism Associated With Late Toxicity After Radiation Therapy in Breast Cancer Patients

Energy Technology Data Exchange (ETDEWEB)

Seibold, Petra; Behrens, Sabine [Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg (Germany); Schmezer, Peter [Division of Epigenomics and Cancer Risk Factors, German Cancer Research Center, Heidelberg (Germany); Helmbold, Irmgard [Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg (Germany); Barnett, Gillian; Coles, Charlotte [Department of Oncology, Oncology Centre, Cambridge University Hospital NHS Foundation Trust, United Kingdom (UK) (United Kingdom); Yarnold, John [Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London (United Kingdom); Talbot, Christopher J. [Department of Genetics, University of Leicester, Leicester (United Kingdom); Imai, Takashi [Advanced Radiation Biology Research Program, National Institute of Radiological Sciences, Chiba (Japan); Azria, David [Department of Radiation Oncology and Medical Physics, I.C.M. – Institut regional du Cancer Montpellier, Montpellier (France); Koch, C. Anne [Radiation Medicine Program, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario (Canada); Dunning, Alison M. [Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Cambridge (United Kingdom); Burnet, Neil [Department of Oncology, Oncology Centre, Cambridge University Hospital NHS Foundation Trust, University of Cambridge, Cambridge (United Kingdom); Bliss, Judith M. [The Institute of Cancer Research, Clinical Trials and Statistics Unit, Sutton (United Kingdom); Symonds, R. Paul; Rattay, Tim [Department of Cancer Studies and Molecular Medicine, University of Leicester, Leicester (United Kingdom); Suga, Tomo [Advanced Radiation Biology Research Program, National Institute of Radiological Sciences, Chiba (Japan); Kerns, Sarah L. [Department of Radiation Oncology, Icahn School of Medicine at Mount Sinai, New York, NH (United States); and others

2015-08-01

Purpose: To identify single-nucleotide polymorphisms (SNPs) in oxidative stress–related genes associated with risk of late toxicities in breast cancer patients receiving radiation therapy. Methods and Materials: Using a 2-stage design, 305 SNPs in 59 candidate genes were investigated in the discovery phase in 753 breast cancer patients from 2 prospective cohorts from Germany. The 10 most promising SNPs in 4 genes were evaluated in the replication phase in up to 1883 breast cancer patients from 6 cohorts identified through the Radiogenomics Consortium. Outcomes of interest were late skin toxicity and fibrosis of the breast, as well as an overall toxicity score (Standardized Total Average Toxicity). Multivariable logistic and linear regression models were used to assess associations between SNPs and late toxicity. A meta-analysis approach was used to summarize evidence. Results: The association of a genetic variant in the base excision repair gene XRCC1, rs2682585, with normal tissue late radiation toxicity was replicated in all tested studies. In the combined analysis of discovery and replication cohorts, carrying the rare allele was associated with a significantly lower risk of skin toxicities (multivariate odds ratio 0.77, 95% confidence interval 0.61-0.96, P=.02) and a decrease in Standardized Total Average Toxicity scores (−0.08, 95% confidence interval −0.15 to −0.02, P=.016). Conclusions: Using a stage design with replication, we identified a variant allele in the base excision repair gene XRCC1 that could be used in combination with additional variants for developing a test to predict late toxicities after radiation therapy in breast cancer patients.

XRCC1 Polymorphism Associated With Late Toxicity After Radiation Therapy in Breast Cancer Patients

International Nuclear Information System (INIS)

Seibold, Petra; Behrens, Sabine; Schmezer, Peter; Helmbold, Irmgard; Barnett, Gillian; Coles, Charlotte; Yarnold, John; Talbot, Christopher J.; Imai, Takashi; Azria, David; Koch, C. Anne; Dunning, Alison M.; Burnet, Neil; Bliss, Judith M.; Symonds, R. Paul; Rattay, Tim; Suga, Tomo; Kerns, Sarah L.

2015-01-01

Purpose: To identify single-nucleotide polymorphisms (SNPs) in oxidative stress–related genes associated with risk of late toxicities in breast cancer patients receiving radiation therapy. Methods and Materials: Using a 2-stage design, 305 SNPs in 59 candidate genes were investigated in the discovery phase in 753 breast cancer patients from 2 prospective cohorts from Germany. The 10 most promising SNPs in 4 genes were evaluated in the replication phase in up to 1883 breast cancer patients from 6 cohorts identified through the Radiogenomics Consortium. Outcomes of interest were late skin toxicity and fibrosis of the breast, as well as an overall toxicity score (Standardized Total Average Toxicity). Multivariable logistic and linear regression models were used to assess associations between SNPs and late toxicity. A meta-analysis approach was used to summarize evidence. Results: The association of a genetic variant in the base excision repair gene XRCC1, rs2682585, with normal tissue late radiation toxicity was replicated in all tested studies. In the combined analysis of discovery and replication cohorts, carrying the rare allele was associated with a significantly lower risk of skin toxicities (multivariate odds ratio 0.77, 95% confidence interval 0.61-0.96, P=.02) and a decrease in Standardized Total Average Toxicity scores (−0.08, 95% confidence interval −0.15 to −0.02, P=.016). Conclusions: Using a stage design with replication, we identified a variant allele in the base excision repair gene XRCC1 that could be used in combination with additional variants for developing a test to predict late toxicities after radiation therapy in breast cancer patients

Estilos de apego padres-hijo y obesidad infantil

Directory of Open Access Journals (Sweden)

Corina Alba-Alba

2014-12-01

Full Text Available El apego es una conducta de búsqueda de cercanía con el otro significativo para obtener seguridad, confianza y afecto la cual se lleva a cabo a través de distintas estrategias que determinan un estilo de apego. El estilo de apego puede clasificarse en dos grandes categorías: seguro e inseguro. La incidencia de obesidad infantil continúa en aumento en México, siendo uno de los países más afectados por lo que es prioritario explorar nuevos aportes de conocimiento respecto al tema. El presente artículo ofrece información teórica y empírica como referente para plantear la pertinencia de estudiar la relación entre estilos de apego padres-hijo y obesidad infantil.

Abuso sexual infantil, trastornos de la conducta alimentaria y su tratamiento.

OpenAIRE

Denise Saboya; Analia Verónica Losada

2013-01-01

Este trabajo aborda las modalidades de tratamientos sistémicos y cognitivos en sujetos que padecieron Abuso Sexual Infantil (ASI) y posteriormente desarrollaron trastornos de la conducta alimentaria, específicamente anorexia y bulimia. Summit (1983) agrupa las acciones familiares y/o judiciales en relación al abuso bajo el nombre de Síndrome de Acomodación al Abuso Sexual Infantil (SAASI). Este incluye cinco etapas: el secreto, el desamparo, el entrampamiento y la acomodación, la revelación t...

Genetics Home Reference: early infantile epileptic encephalopathy 1

Science.gov (United States)

... Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder characterized by a type of seizure known as ... 2 links) Health Topic: Developmental Disabilities Health Topic: Epilepsy Genetic and Rare Diseases Information Center (1 link) ...

Acute Infantile Hemiplegia Associated with Ipsilateral Retinal ...

African Journals Online (AJOL)

An 18-month-old patient with acute infantile hemiplegia, aphasia and ipsilateral retinal vascular occlusion, is described. The opthalmic findings suggest that the lesion was due to emboli originating from both internal carotid arteries, probably as a result of upper respiratory tract infection and otitis media. This report ...

Infantile autism in children of immigrant parents. A population-based study from Göteborg, Sweden.

Science.gov (United States)

Gillberg, C; Steffenburg, S; Börjesson, B; Andersson, L

1987-06-01

A population-based study of infantile autism from western Sweden has been completed. Urban children with autism more often than age-matched children in the general population had immigrant parents from 'exotic' countries. No such trend was seen in rural children with infantile autism.

El conducto de Serres: alta prevalencia en mandíbulas infantiles

OpenAIRE

Hernández Huaripaucar, Edgar; Hernández, Liliana Gisela

2011-01-01

Objetivo. Conocer algunas características anátomo-topográficas del conducto de Serres y su prevalencia en mandíbulas infantiles, adultas y seniles. Material y método. La muestra estuvo constituida por 45 mandíbulas infantiles, adultas y seniles que presentaron o no el conducto de Serres, provenientes del anfiteatro de Anatomía de la Facultad de Odontología de la Universidad San Luís Gonzaga de Ica. La hipótesis operativa plantea que las características del conducto de Serres estudiad...

La mortalidad infantil y la mortalidad materna en el siglo XXI

OpenAIRE

Aguirre, Alejandro

2009-01-01

La mortalidad infantil y la mortalidad materna han sido reducidas de manera sustancial en los países desarrollados, por lo cual en esas naciones la mortalidad tiende a concentrarse en las edades avanzadas de las poblaciones. Sin embargo, en países como México no está ocurriendo un avance relevante en la disminución de la mortalidad infantil y materna, pues a pesar de los notables progresos conseguidos en ese sentido durante las décadas recientes, para seguir avanzando se requieren fuertes inv...

Instrumentos para avaliação de apraxia de fala infantil

OpenAIRE

Gubiani, Marileda Barichello; Pagliarin, Karina Carlesso; Keske-Soares, Marcia

2015-01-01

RESUMO Objetivo: Revisar sistematicamente na literatura os principais instrumentos utilizados para avaliação da apraxia de fala infantil. Estratégia de pesquisa: Realizou-se busca nas bases Scopus, PubMed e Embase Critérios de seleção: Foram selecionados estudos empíricos que utilizaram instrumentos de avaliação da apraxia de fala infantil. Análise dos dados: A seleção dos artigos foi realizada por dois pesquisadores independentes. Resultados: Foram encontrados 695 resumos. Após a l...

Caracterización neuropsicológica de una población infantil urbana a través de la Evaluación Neuropsicológica Infantil Puebla-Sevilla

OpenAIRE

Yulia Solovieva; Deyanira Loredo; Luis Quintanar; Emelia Lázaro

2013-01-01

Objetivo. Recientemente se han desarrollado instrumentos de evaluación en la Neuropsicología infantil, sin embargo, se requiere continuar las investigaciones intentando combinar las posibilidades del análisis observacional y cuantitativo de los resultados. Es necesario precisar las características de ejecución con base en parámetros como edad, escolaridad, procedencia de las poblaciones infantiles. El objetivo del artículo es caracterizar los tipos de ejecuciones de niños mexicanos preescolar...

Democratic Administration and Family Participation in the Extent of the Infantile Education

Directory of Open Access Journals (Sweden)

Bianca Cristina Côrrea

2007-06-01

Full Text Available The present work presents reflections concerning democratic administration and family participation in the infantile education that were part of my Dissertation of Master's degree. The main objective of the research was to observe existent practices or potentials of participation of the families in the infantile education. The work incuded as the bibliographical research as field research, this last one accomplished along one year in municipal school of infantile education (EMEI in the city of São Paulo that assists children from 4 to 6 years. The results of the research indicated that, although there was effort on the part of the professionals of the school in accomplishing a quality work to involve the participation of the families, also counted with institutionalized mechanisms of participation and adopted other actions to promote it, it lacked speakers to discuss its practice heading to the wanted objectives.

Preventive Effect of Residential Green Space on Infantile Atopic Dermatitis Associated with Prenatal Air Pollution Exposure.

Science.gov (United States)

Lee, Ji-Young; Lamichhane, Dirga Kumar; Lee, Myeongjee; Ye, Shinhee; Kwon, Jung-Hyun; Park, Myung-Sook; Kim, Hwan-Cheol; Leem, Jong-Han; Hong, Yun-Chul; Kim, Yangho; Ha, Mina; Ha, Eunhee

2018-01-09

Few birth cohort studies have examined the role of traffic-related air pollution (TRAP) in the development of infantile atopic dermatitis (AD), but none have investigated the role of preventive factors such as green spaces. The aim of this study was to investigate whether exposure to nitrogen dioxide (NO₂) and particulate matter with an aerodynamic diameter of Health study. Subjects were geocoded to their residential addresses and matched with air pollution data modeled using land-use regression. Information on infantile AD was obtained by using a questionnaire administered to the parents or guardians of the children. The association between infantile AD and exposure to NO₂ and PM 10 was determined using logistic regression models. We assessed the effects of residential green spaces using stratified analyses and by entering product terms into the logistic regression models. The risk of infantile AD significantly increased with an increase in air pollution exposure during the first trimester of pregnancy. The adjusted odds ratio (OR) and 95% confidence interval (CI) were 1.219 (1.023-1.452) per 10 μg/m³ increase in PM 10 and 1.353 (1.027-1.782) per 10 ppb increase in NO₂. An increase in the green space within 200 m of residence was associated with a decreased risk of AD (OR = 0.996, 95% CI: 0.993-0.999). The stratified analysis of residential green space revealed stronger associations between infantile AD and PM 10 and NO₂ exposure during the first trimester in the areas in the lower tertiles of green space. This study indicated that exposure to TRAP during the first trimester of pregnancy is associated with infantile AD. Less residential green space may intensify the association between TRAP exposure and infantile AD.

Trabajo infantil, pobreza y desarrollo local en el municipio de Buenaventura. Un estudio de caso

Directory of Open Access Journals (Sweden)

Oscar Jehiny Larrahondo Ramos

2010-01-01

Full Text Available El presente texto es el resultado del estudio denominado “Trabajo infantil y factores de vulnerabilidad en Buenaventura”, el cual describe y perfila algunas consideraciones sobre el trabajo infantil y su relación con la pobreza y el Desarrollo Local en el municipio de Buenaventura en el año 2010, a partir de cinco espacios de interrelación laboral en los que se presenta la problemática. Aquí, se muestran algunas definiciones conceptuales pertinentes sobre el Trabajo Infantil y la Pobreza, al igual que una serie de hallazgos, al mismo tiempo que un conjunto de recomendaciones o conclusiones al respecto.

Análisis de hábitos de alimentación y actividad física en educación infantil. Propuesta educativa para prevenir la obesidad infantil en alumnos de 5-6 años

OpenAIRE

Reverte-García, Soledad

2013-01-01

La obesidad infantil está considerada una grave epidemia que atenta contra la salud de los niños en países desarrollados. El objetivo principal de este trabajo es prevenir la obesidad infantil desde el ámbito educativo en el segundo ciclo de educación infantil. Para ello hemos analizado el estado nutricional y el grado de actividad física de una muestra de alumnos de 5-6 años mediante la elaboración de un cuestionario específico, y a partir de los resultados obtenidos se ha desarrollado...

The early electroclinical manifestations of infantile spasms: A video EEG study

Directory of Open Access Journals (Sweden)

Mary Iype

2016-01-01

Full Text Available Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG changes are sparse in the literature. The purpose of the study was to describe the clinical and ictal video-EEG characteristics of consecutive cases with infantile spasms and to try to find an association with the etiology. Materials and Methods: The clinical phenomenology and EEG characteristics on video-EEG were analyzed in 16 babies with infantile spasms. Results: A total of 869 spasms were reviewed. Nine (56.3% showed focal seizures at least once during the recording and 1 (6.3% had multifocal myoclonus in addition to the spasms. The duration of the cluster and interval between spasms was totally variable in all patients. Lateralizing phenomena were present in at least some of the spasms in all patients. Unilateral manual automatism in the form of holding the pinna was noted in three patients following the spasm. The ictal EEG activity in the majority (75% was the slow wave. Four (25% showed fast generalized spindle-like ictal discharges. Spikes, spike and wave activity, or electrodecremental pattern alone during the ictus was seen in none. On bivariate analysis, no factor noted on the video EEG had association with the etiology. Conclusion: Infantile spasms could be associated with focal and other seizures, has unique, non-uniform and variable semiology from patient to patient. The ictal EEG manifestation in the majority (75% of our patients was the slow wave transient with 25% showing generalized fast spindle-like activity.

Factores de riesgo del maltrato y abandono infantil desde una perspectiva multicausal

Directory of Open Access Journals (Sweden)

Cristina GONZÁLEZ-MURIEL LÓPEZ

2009-11-01

Full Text Available RESUMEN: En este artículo se expone la evolución de los diferentes modelos que han tratado de ofrecer una explicación del maltrato y abandono infantil, modelos que en un principio se basaban en una perspectiva unicausal. Actualmente, el maltrato infantil se encuadra en un marco teórico multicausal; desde este enfoque, se proporciona un análisis de aquellos factores ambientales, familiares e individuales, que se consideran importantes en la explicación del maltrato y abandono infantil intrafamiliar.SUMMARY: In this report is exposed the evolution of the different models which have tried to offer an explanation to the phenomenon of the abuse and children's neglect, models that at first were based in an unicausal perspective. Nowadays, the children's abuse is inserted in a theorical multicausal setting; from this aproach, it is provided an analysis of those familiar, individual and surrounding factors which are considered important in the explanation of abuse and intrafamiliar children's neglect.

A case of high-titer anti-D hemolytic disease of the newborn in which late onset and mild course is associated with the D variant, RHD-CE(9)-D

DEFF Research Database (Denmark)

Jakobsen, Marianne A; Nielsen, Christian; Sprogøe, Ulrik

2014-01-01

BACKGROUND: The RhD antigen is very immunogenic and is a significant cause of hemolytic disease of the newborn (HDN). The RHD-CE(8-9)-D hybrid allele is commonly associated with a D- phenotype. Here, we report a case of high-titer maternal anti-D and late onset of HDN in a newborn carrying a RHD......-CE(9)-D variant supposedly encoding the same partial D antigen as the RHD-CE(8-9)-D allele, but with significant expression of D antigen. STUDY DESIGN AND METHODS: To elucidate the blood group antigen background of the case, we carried out serologic, flow cytometric, and genetics studies of the newborn...

CT study of infantile cerebral vitamin B1 deficiency (analysis of 22 cases)

International Nuclear Information System (INIS)

Liu Bin; Xi Meifang; Wang Mengding; Wang Chaoxiu

1998-01-01

Purpose: To study the CT features of infantile cerebral vitamin B 1 deficiency. Methods: The authors retrospectively reviewed the clinical manifestations and CT findings of 22 cases of infantile vitamin B 1 deficiency. Results: The main clinical signs were seizure malaise dullness and vomiting. CT scans showed bilateral symmetrical hypodense foci in lenticular nucleus (20/22), head of caudate nucleus (15/22), thalamus (3/22), anterior limb of internal capsule (4/22), external capsule (1/22) and para-ventricle white matter (2/22), and in many cases, signs of cerebral atrophy. 22 cases received thiamine treatment and were fully recovered. Conclusion: The authors concluded that bilateral symmetric hypodense foci in lenticular nucleus thalamus, head of caudate nucleus, anterior limb of internal capsule, external capsule and para-ventricle white matter were important CT signs suggestive of infantile cerebral vitamin B 1 deficiency

Prevalence and risk factors for infantile colic in District Mansehra

International Nuclear Information System (INIS)

Fazil, M.

2011-01-01

Objective: Infantile colic is a common problem among infants age 3 days to 3 months. It may affect parental feelings negatively and the parents may undertake all kinds of actions to stop excessive crying. The objective of this study was to assess the incidence of infantile colic and its risk factors in infants born in District Mansehra. Methods: In this prospective study, all those newborn babies were included who were born at King Abdullah Teaching Hospital Mansehra between January 1 2008 and March 31, 2008, and those newborn babies who were brought to children OPD for routine check-up and EPI centre for vaccination of this hospital during this time period. For every infant, gender, mode of delivery, gestational age at birth, birth weight, birth order, and mother's reproductive history were collected. These babies were seen at least once in a week up to 12 weeks and history from the mothers about the duration of crying and fussiness behaviour was recorded. At the end of 3 months the infants were again assessed and additional information on infant nutritional source was obtained and any medication used for colic relief was identified. Cases of colic were identified by applying Wessel criteria to recorded data. Chi-square tests were used. Results: From total 512 infants, follow-up was completed for 426 infants. In total, 90 infants (21.77%) satisfied the Wessel criteria for infantile colic. No statistical significance was found between colicky and non-colicky infants according to sex, gestational age at birth, birth weight, type of delivery, and, infant's feeding pattern. However, firstborn infants had higher rate for developing colic (p=0.03). Conclusion: Prevalence of colic was 21.77% in this infant population of District Mansehra. Except for birth order, no other variable was significantly associated with infantile colic. (author)

Prevalencia de depresión infantil en colegios oficiales de Barranquilla

OpenAIRE

Daniella Abello Luque; Omar Fernando Cortés Peña; Ornella Barros Vanegas; Silvia Mercado Osorio; Dadiana Solano Lamadrid

2014-01-01

El presente artículo tiene como finalidad descri- bir la prevalencia de sintomatología de depresión Infantil en niños y niñas. Para esto se llevó a cabo un muestreo aleatorio simple, en el que se empleó como muestra un total de 178 estudiantes de 4° a 6° pertenecientes a colegios oficiales de la ciudad de Barranquilla. Además como instrumento se empleó el Inventario de Depresión Infantil CDI de Kovacks (1992) en su versión en español. Los resultados arrojaron un 15.73...

El testimonio infantil ante el abuso sexual

OpenAIRE

Vera Temiño, Alba

2012-01-01

Se aborda la problemática de la evaluación del testimonio infantil en los casos de abuso sexual. Se hace un recorrido por las dificultades que plantea este tipo de análisis y se profundiza en las herramientas forenses que la psicología ha creado para su investigación

Estimativas da prevalencia de desnutricao infantil nos municipios brasileiros em 2006

Directory of Open Access Journals (Sweden)

Maria Helena D'Aquino Benicio

2013-06-01

Full Text Available OBJETIVO: Estimar a prevalência da desnutrição infantil para os municípios brasileiros. MÉTODOS: Utilizou-se modelo de regressão logística multinível para estimar a probabilidade individual de desnutrição em 5.507 municípios brasileiros em 2006, em função de fatores preditivos agrupados segundo níveis hierárquicos. A variável resposta foi a desnutrição infantil (crianças de seis a 59 meses com estatura para idade e sexo inferior a -2 escores Z, segundo o padrão da Organização Mundial da Saúde. As variáveis preditivas foram determinantes da desnutrição aferidos de forma semelhante pela Pesquisa Nacional sobre Demografia e Saúde-2006 e pela Amostra do Censo de 2000. No nível 1 (individual: sexo e idade; no nível 2 (domiciliar: variáveis socioeconômicas, água com canalização interna, área urbana ou rural; e no nível 3 (municipal: localização do município e cobertura da Estratégia Saúde da Família em 2006. RESULTADOS: Detectou-se elevação estatisticamente significativa da chance de desnutrição nas crianças do sexo masculino, que moravam em domicílios com duas ou mais pessoas por cômodo, pertencentes aos quintos inferiores do escore socioeconômico, com três ou mais crianças 70% mostrou redução de 45% na chance de desnutrição infantil. Estimativas da prevalência de desnutrição infantil mostraram que a maioria dos municípios estudados apresentou risco de desnutrição sob controle, muito baixo ou baixo. Riscos de maior magnitude foram encontrados em 158 dos municípios, na Região Norte. CONCLUSÕES: A desnutrição infantil como problema de saúde pública concentra-se nos municípios da Região Norte do País, onde a cobertura da Estratégia Saúde da Família é mais baixa. Detectou-se efeito de proteção da Estratégia Saúde da Família em relação à desnutrição infantil no País como um todo, independentemente de outros determinantes do problema.

La literatura infantil como medio de prevención del abuso sexual infantil

OpenAIRE

San Emeterio Herrería, Paula

2016-01-01

RESUMEN: El maltrato infantil y, especialmente, el abuso sexual a menores, es un fenómeno que siempre ha estado presente y, quizás, hoy en día se detecta en mayor medida, aunque no lo suficiente. La trascendencia de tratar este tema y formular métodos de prevención no solo recae en el número de niños y adolescentes que pueden verse afectados, si no, también, en la dificultad de su detección, así como, en la gravedad de sus consecuencias. Existen abundantes recursos y programas para prevenir e...

Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

International Nuclear Information System (INIS)

Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

2004-01-01

We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

First trimester nicotine exposure and the risk of infantile colic

DEFF Research Database (Denmark)

Milidou, Ioanna; Henriksen, Tine Brink; Jensen, Morten Søndergaard

Background: Although prenatal exposure to maternal smoking has been associated with infantile colic (IC), to date no published studies have reported on the relationship between the prenatal use of nicotine replacement therapy (NRT) and IC. Aim: We aimed to assess the relationship between fetal...... exposure to nicotine, coming from both cigarette smoking and use of NRT early in pregnancy, and IC. Methods: The study population consisted of 63,883 pregnancies that resulted in live born singletons enrolled in the Danish National Birth Cohort between 1997 and 2002. Mother’s smoking habits and use of NRT......: The results indicate that prenatal exposure to nicotine from any source during the first trimester of the pregnancy increases the risk of infantile colic....

Gestão da educação infantil nas políticas municipais

Directory of Open Access Journals (Sweden)

Sonia Kramer

2014-01-01

Full Text Available Este artículo presenta una investigación sobre políticas públicas y gestión de Educación Infantil. Se centra en las encuestas con profesionales responsables por la educación para niños en veinticuatro departamentos municipales de educación. Después de presentar el referencial teórico-metodólogico, la concepción de entrevista y como se há desarrollado, el artículo describe el contexto de la investigación, el perfil de los encuestados y analiza los principales resultados en cuanto a: gestión y extensión de atención; condiciones (recursos financieros, materiales y espacio; continuidad política; organización y operación de los departamentos municipales de educación; relaciones entre departamentos e instituciones; gestión de la propuesta pedagógica; acceso a la educación infantil; lugar social da educación infantil; profesionales de educación infantil, condiciones de trabajo y formación. En la última parte, sistematiza conclusiones y prioridades para políticas públicas.

Relatório do estágio curricular supervisionado na Educação Infantil I: Centro Municipal de Educação Infantil Monteiro Lobato

OpenAIRE

Ribeiro, Eva Aparecida dos Santos

2011-01-01

Este presente artigo é um relato de observação e regência na Educação Infantil, realizado no Centro Municipal de Educação Infantil Monteiro Lobato, localizado na Avenida dos jacarandás s/n, no Jardim das Primaveras, Sinop-MT. As observações e as regências foram realizadas no período vespertino, entre os dias 14 de junho à 05 de julho do ano de 2011, totalizando 60 horas de Estágio. Dias antes de iniciar o trabalho no CMEI, foi realizada uma visita para conhecer o ambiente onde iria fazer o es...

Magnetic resonance imaging findings of solitary infantile myofibromatosis of the skull: A case report

Energy Technology Data Exchange (ETDEWEB)

Lee, Seung Eun; Cho, Kil Ho; Suh, Jang Ho; Choi, Joon Hyuk [College of Medicine, Yeungnam University, Daegu (Korea, Republic of)

2016-11-15

Infantile myofibromatosis is a rare, benign mesenchymal disorder of early childhood characterized by solitary or multiple benign myofibroblastic tumors. The tumors may involve the skin, subcutaneous tissue, muscle, bone and visceral organs. We report magnetic resonance imaging findings of solitary infantile myofibromatosis arising in the temporal bone of a ten-month-old boy, and the diagnosis was confirmed by surgical excision and histopathological examination.

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Science.gov (United States)

Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H

2005-02-01

The purpose of this study was to describe the phenotype (and corresponding genotype) of adult patients with late-onset Tay-Sachs disease, a clinical variant of the GM2-gangliosidoses. A comprehensive physical examination, including neurological assessments, was performed to establish the current disease pattern and severity. In addition, the patients' past medical histories were reviewed. The patients' alpha-subunit mutations (beta-Hexosaminidase A genotype) were determined and correlated with their corresponding clinical findings and disease course. Twenty-one patients (current mean age: 27.0 years; range: 14-47 years) were identified. The pedigree revealed a relative with the "classic" infantile or late-onset form of Tay-Sachs disease in four (out of 18) unrelated families. The patients were predominantly male (15/21 individuals) and of Ashkenazi Jewish ancestry (15/18 families). Mean age at onset was 18.1 years; balance problems and difficulty climbing stairs were the most frequent presenting complaints. In several cases, the diagnosis was delayed (mean age at diagnosis: 27.0 years). Analysis of the beta-hex A gene revealed the G269S mutation as the most common disease allele; found in homozygosity (N = 1) or heterozygosity (N = 18; including 2 sib pairs). Disease onset (age 36 years) was delayed and progression relatively slower in the homozygous G269S patient. Two siblings (ages 28 and 31 years), of non-Jewish ancestry, were compound heterozygotes (TATC1278/W474C); their clinical course is dominated by psychiatric problems. Brain imaging studies revealed marked cerebellar atrophy in all patients (N = 18) tested, regardless of disease stage. Late-onset Tay-Sachs disease is an infrequent disorder and the diagnosis is often missed or delayed (by approximately 8 years). Early on, the majority of patients develop signs of either cerebellar or anterior motor neuron involvement. Affected individuals may also develop psychotic episodes. In most cases, the later

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease

NARCIS (Netherlands)

T.A. Kanters (Tim A.); I Hoogenboom-Plug (Iris); M.P.M.H. Rutten-van Mölken (Maureen); W.K. Redekop (Ken); A.T. van der Ploeg (Ans); L. van Hakkaart-van Roijen (Leona)

2014-01-01

textabstractBackground: Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this

The relationship between abduction deficit and reoperation among patients with infantile esotropia.

Science.gov (United States)

Rajavi, Zhale; Sabbaghi, Hamideh; Torkian, Pooya; Behradfar, Narges; Yaseri, Mehdi; Feizi, Mohadeseh; Faghihi, Mohammad; Sheibani, Kourosh

2018-01-01

To determine the relationship between abduction deficit and reoperation among patients with infantile esotropia (IET). The records of 216 patients (432 eyes) with IET who underwent surgery, from 2010 to 2015 were studied. Patients with IET whose deviation appeared before 6mo of age and had stable preoperative deviation in two examinations with at least 2wk apart and a minimum 3mo postoperative follow up were included. Cases with early onset accommodative esotropia, congenital cataract, retinopathy of prematurity (ROP), manifest nystagmus, fundus lesions, neurologic and ophthalmic anomalies, 6 th nerve palsy and Duane's syndrome were excluded. Preoperative abduction deficit was considered from -1 to -3 grading scale. Three months after surgery, children were classified into no-need reoperation [deviation≤15 prism diopters (PD)], and need-reoperation groups (deviation>15 PD). In this retrospective study, 117 female and 99 male patients with the mean surgical age of 4.7±6.4y were included. Reoperation rate was 33.3% and 16.0% in IET patients with and without abduction deficit, respectively in patients who had a history of late surgery. Abduction deficit increased the odds of reoperation by 82% [OR=1.82, 95% confidence interval (CI) =1.05 to 3.19, P =0.003] in patients who had a history of late surgery (>2 years old, P =0.021). Abduction deficit was improved significantly after operation ( P <0.001). Based on our results, abduction deficit can be considered as a risk factor of reoperation in IET patients who are operated at the age of more than 2y.

Significado cultural dos bens de consumo em um concurso de beleza infantil

OpenAIRE

Netto, Carla Freitas Silveira

2010-01-01

A presente dissertação tem como objetivo ampliar o conhecimento sobre o significado cultural dos bens de consumo, tendo como objeto o fenômeno dos concursos de beleza infantil e suas candidatas. Primeiramente, descrevo os concursos de beleza (adulto e infantil) expondo as principais discussões já geradas sobre o assunto, a fim de apresentar o contexto da pesquisa. Depois, realizo uma revisão teórica da temática dos significados culturais dos bens de consumo, do modelo de movimentação destes s...

Programa de promoción de salud para infantes preescolares de círculos infantiles Santa Clara

OpenAIRE

Quintero Fleites, Eva Josefina

2011-01-01

Con el objetivo de desarrollar un Programa de promoción de salud para infantes preescolares, se realizó una investigación de desarrollo en el área de promoción de salud, con el universo de 34 círculos infantiles del municipio Santa Clara. Las muestras fueron de dos círculos infantiles, tanto para el diagnóstico como para el estudio piloto, y de ocho círculos infantiles para la extensión de la experiencia (cinco experimentales y tres controles). Las etapas investigativas fueron: diagnóst...

ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE

Directory of Open Access Journals (Sweden)

E. N. Basargina

2014-01-01

Full Text Available Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological process. The only specific method of treating Pompe disease is enzyme replacement therapy (intravenous administration of recombinant human acid glucosidase, the effectiveness whereof depends on the time the therapy started. Since such a therapy was introduced into practice, Pompe disease mortality decreased by 79%. 6 children with infantile Pompe disease were observed and treated at the cardiovascular care unit of the Scientific Center of Children’s Health in 2011‑2014. The article presents a clinical case demonstrating capabilities of diagnosing infantile Pompe disease in Russia and effective application of alglucosidase alfa in 4-month-old child. 

Literatura infantil e pedagogia: tendências e enfoques na produção acadêmica contemporânea

Directory of Open Access Journals (Sweden)

Edgar Roberto Roberto Kirchof

Full Text Available Resumo O objetivo deste artigo é apresentar uma revisão do campo de estudos que articula literatura infantil e pedagogia, com base na análise de 69 artigos publicados em três revistas que focalizam a literatura infantil no Brasil: Leitura: Teoria & Prática; Tigre Albino; Revista Emília. As análises buscam evidenciar as principais questões levantadas, nesses periódicos, no que tange às dimensões pedagógicas da literatura infantil. Antes dos resultados das análises, contudo, o artigo apresenta uma breve retrospectiva histórica das principais questões envolvendo literatura infantil e pedagogia. Os resultados das análises permitiram concluir que a maior parte dos artigos enfatiza a importância da literatura para a formação do sujeito, trazendo propostas e sugestões para que sejam salvaguardadas as dimensões lúdica e artístico-literária da literatura infantil na escola e em outros espaços de formação.

Interacciones vinculares en el sistema de cuidado infantil

Directory of Open Access Journals (Sweden)

María Teresa Moreno - Zavaleta

2014-01-01

Full Text Available El estudio identifica y analiza las interacciones vinculares existentes en el sistema de cuidado infantil de niños con y sin desnutrición crónica en un mismo contexto de pobreza. Este es un estudio multimétodo, basado en información de campo recopilada y en una construcción teórica que emergió a partir de los resultados obtenidos, ampliando el marco conceptual de la desnutrición infantil. La constelación y gestión del cuidado son dos categorías emergentes, que contribuyen a comprender que en los diferentes escenarios donde transitan los niños hay diversos cuidadores que varían en calidad, permanencia y coherencia repercutiendo esta situación en su estado nutricional. Si bien las mujeres se constituyen en las gestoras principales del cuidado, no son ellas las únicas responsables del cuidado y por ello se recomienda fortalecer las redes de apoyo familiar y comunitario.

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction

NARCIS (Netherlands)

Poll-The, B. T.; Saudubray, J. M.; Ogier, H.; Schutgens, R. B.; Wanders, R. J.; Schrakamp, G.; van den Bosch, H.; Trijbels, J. M.; Poulos, A.; Moser, H. W.

1986-01-01

Infantile Refsum's disease was diagnosed in three male patients, presenting with facial dysmorphia, retinitis pigmentosa, neurosensory hearing loss, hepatomegaly, osteopenia and delayed growth and psychomotor development. An elevated plasma phytanic acid concentration and a deficient phytanic acid

Gratification disorder ("infantile masturbation"): a review.

Science.gov (United States)

Nechay, A; Ross, L M; Stephenson, J B P; O'Regan, M

2004-03-01

Little has been published on gratification disorder ("infantile masturbation") in early childhood. To expand on the profile of patients diagnosed with this condition. Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

Clinical polyomavirus BK variants with agnogene deletion are non-functional but rescued by trans-complementation

International Nuclear Information System (INIS)

Myhre, Marit Renee; Olsen, Gunn-Hege; Gosert, Rainer; Hirsch, Hans H.; Rinaldo, Christine Hanssen

2010-01-01

High-level replication of polyomavirus BK (BKV) in kidney transplant recipients is associated with the emergence of BKV variants with rearranged (rr) non-coding control region (NCCR) increasing viral early gene expression and cytopathology. Cloning and sequencing revealed the presence of a BKV quasispecies which included non-functional variants when assayed in a recombinant virus assay. Here we report that the rr-NCCR of BKV variants RH-3 and RH-12, both bearing a NCCR deletion including the 5' end of the agnoprotein coding sequence, mediated early and late viral reporter gene expression in kidney cells. However, in a recombinant virus they failed to produce infectious progeny despite large T-antigen and VP1 expression and the formation of nuclear virus-like particles. Infectious progeny was generated when the agnogene was reconstructed in cis or agnoprotein provided in trans from a co-existing BKV rr-NCCR variant. We conclude that complementation can rescue non-functional BKV variants in vitro and possibly in vivo.

Leucodistrofia metacromática infantil em gêmeos

OpenAIRE

Wittig,Ehrenfried Othmar; Marçallo,Francisco Antonio; Pilotto,Rui Fernando; Mello,Luiz Renato

1985-01-01

Os autores descrevem um par de gêmeas monozigóticas, filhas de pais consanguíneos em segundo grau (f=1/32), com leucodistrofia metacromática, forma infantil. A zigosidade foi determinada pelos achados obstétricos e por marcadores genéticos eritrocitários.

Efecto a corto plazo de la vigabatrina en los espasmos infantiles Short term effect of vigabatrin in infantile spasms

Directory of Open Access Journals (Sweden)

Albia J. Pozo Alonso

2007-03-01

Full Text Available El objetivo de este trabajo fue valorar el efecto a corto plazo de la vigabatrina en 18 pacientes con el diagnóstico de espasmos infantiles. Trece pacientes fueron tratados en monoterapia, y 6 de ellos de primera intención. La dosis máxima promedio utilizada de vigabatrina fue de 130 mg/ (kg∙día (rango de 75 a 170 mg/ [kg∙día]. Los espasmos epilépticos cesaron en el 44,4 % de los casos a los 18,4 días como promedio tras el inicio del tratamiento con vigabatrina (rango de 3 a 43 días. La dosis promedio de respuesta a la vigabatrina fue de 103 mg/ (kg∙día (rango de 50 a 156 mg/ [kg∙día]. En el 16,7 % de los niños se logró la disminución de las crisis en más del 90 % y en el 5,6 % se redujeron los espasmos epilépticos en más del 50 %. Los espasmos epilépticos persistieron en el 33,3 %. Se obtuvo mejoría electroencefalográfica en el 55,6 % de los casos y en el 5,6 % desaparecieron las descargas. La hipsarritmia desapareció en el 75 % de los pacientes. Se debe continuar empleando la vigabatrina en monoterapia o como terapia adjunta en pacientes con espasmos infantiles.The purpose of this paper was to assess the short term effect of vigabatrin in 18 patients that were diagnosed infantile spasms. Thirteen of them were treated with monotherapy, and six of them were treated of first intention. The average maximum dose of vigabatrin was 130 mg/(kg∙day (range 75-170 mg/[kg∙day]. The epileptic spasms ceased in 44.4 % of the cases at 18.4 days as an average after the beginning of the treatment with vigabatrin (range 3 to 43 days. The average dose of response to vigabatrin was 103 mg/(kg∙day (range 50 to 156 mg/[kg∙day]. In 16.7 % of the children it was possible to reduce the crises more than 90 % , whereas in 5.6 % the epileptic spasms decreased more than 50 %. The epileptic spasms persisted in 33.3 %. An electroencephalographic improvement was observed in 55.6 % of the cases, and in 5.6 % the discharges vanished

Role of ARX Gene in Infantile Spasms and Dystonia

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2007-08-01

Full Text Available The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA.

Las funciones ejecutivas en la clínica neuropsicológica infantil

Directory of Open Access Journals (Sweden)

Vanessa Arán Filippetti

2013-01-01

Full Text Available En los últimos años, el estudio de las funciones ejecutivas (FE aso- ciado a diferentes trastornos del neurodesarrollo ha experimentado un notable auge en el ámbito de la neuropsicología infantil. En el presente artículo revisamos los principales modelos teóricos del funcionamiento ejecutivo en niños atendiendo a sus implicancias tanto para la valoración clínica como para la praxis educativa. En relación con sus bases neuroanatómicas se destacan los modelos neu- rofuncionales que ponen el acento en la fluida relación entre la corteza prefrontal (CPF y las FE así como en la riqueza de conexiones entre la CPF y diferentes regiones corticales y estructuras subcorticales. Finalmen- te, examinamos los perfiles de funcionamiento ejecutivo en diferentes trastornos de la clínica neuropsicológica infantil. La integración de estos aportes permite comprender la heterogeneidad del déficit ejecutivo en trastornos infantiles que no necesariamente cursan con patología primaria de los lóbulos frontales.

Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report.

Science.gov (United States)

Rubino, Elisa; Vacca, Alessandro; Gallone, Salvatore; Govone, Flora; Zucca, Milena; Gai, Annalisa; Ferrero, Patrizia; Fenoglio, Pierpaola; Giordana, Maria Teresa; Rainero, Innocenzo

2017-11-01

Bipolar disorder is a chronic psychiatric illness characterised by fluctuation in mood state, with a relapsing and remitting course. Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous syndrome, with the most frequent phenotype being behavioural variant frontotemporal dementia (bvFTD). Here, we report the case of an Italian male presenting with late-onset bipolar disorder that developed into bvFTD over time, carrying a mutation in the GRN gene. Interestingly, the patient carried the c.1639 C > T variant in the GRN gene, resulting in a R547C substitution. Our case report further corroborates the notion that, in addition to FTD, progranulin may be involved in the neurobiology of bipolar disorder type 1, and suggests to screen patients with late-onset bipolar disorder for GRN mutations.

El diagnóstico positivo de autismo infantil

Directory of Open Access Journals (Sweden)

Juana Velázquez Argota

1996-08-01

Full Text Available Se revisan los límites del síndrome autístico y la evolución del concepto de autismo infantil desde Kanner hasta las clasificaciones psiquiátricas más recientes. Se informan los resultados de nuestras investigaciones en el diagnóstico positivo del autismo infantil. La anamnesis remota es de poco valor, más relevantes para el diagnóstico constituyen el examen del paciente en el presente y las escalas de cuantificación del autismo (las cuales son de utilidad en el diagnóstico diferencial entre el trastorno autístico tipo Kanner y los trastornos autísticos atípicos. Las pruebas de inteligencia standard se deben aplicar según el nivel de funcionamiento del paciente y si no clasificara es más bien por el bajo cociente de inteligencia que por su comportamiento autístico. El clínico debería tener presente la posibilidad del diagnóstico de autismo cuando examina niños pequeños con problemas de desarrollo y utilizar escalas de síntomas autísticos adecuados a los primeros años de vida. Se recomienda el uso de la prueba de Bo Olsson en el diagnóstico diferencial de autismo de Kanner, síndrome de Rett y daño cerebral temprano en la etapa preescolar.The limits of the austistic syndrome as well as the evolution of the infantile autism concept since Kanner to the latest psychiatric classifications are reviewed. The results of our research on the positive diagnosis of infantile autism are reported. The patient's medical examination and the autism quantification scales (useful for the diferential diagnosis between the Kanner type autistic disorder and the atypical autistic disorders are more important for the diagnosis than the remote anamnesis, which is of little value. The standard intelligence test should be applied according to the patients functioning level and if he would not classify it would be because of his low intelligence quotient and not because of his autistic behaviour. The clinician should take into account the

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

Science.gov (United States)

Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

2016-12-01

Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

Pedagogia de Projetos como metodologia no trabalho com a educação infantil

Directory of Open Access Journals (Sweden)

Patricia Frageri

2016-12-01

Full Text Available Este artigo teve como tema a Pedagogia de Projetos como metodologia no trabalho com a Educação Infantil e a pesquisa foi realizada na escola Gente Feliz de Sinop. A investigação teve como objetivo conhecer em que consiste a metodologia de trabalho pautada na pedagogia de projetos, e suas interfaces, no contexto da educação infantil. Os instrumentos de pesquisa foram entrevista e questionário com duas professoras. Os resultados mostram que a instituição prioriza a metodologia de trabalho por projetos e que as professoras estão familiarizadas com essa metodologia buscando construir junto com as crianças as práticas pedagógicas diárias. Palavra-chave: educação infantil; Pedagogia de Projetos; metodologia de trabalho.

Leucodistrofia metacromática infantil em gêmeos

Directory of Open Access Journals (Sweden)

Ehrenfried Othmar Wittig

1985-09-01

Full Text Available Os autores descrevem um par de gêmeas monozigóticas, filhas de pais consanguíneos em segundo grau (f=1/32, com leucodistrofia metacromática, forma infantil. A zigosidade foi determinada pelos achados obstétricos e por marcadores genéticos eritrocitários.

The natural course of infantile Pompe's disease : 20 original cases compared with 133 cases from the literature

NARCIS (Netherlands)

van den Hout, HMP; Hop, W; van Diggelen, OP; Smeitink, JAM; Smit, GPA; Poll-The, BTT; Bakker, HD; Loonen, MCB; de Klerk, JBC; Reuser, AJJ; van der Ploeg, AT

Objective. Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies. Methods. A total of 20 infantile

Diseño y desarrollo de recursos on-line aplicaciones virtuales de arte infantil en contextos hospitalarios

OpenAIRE

Ávila Valdés, Noemí

2005-01-01

La presente tesis doctoral se enmarca en el ámbito del estudio del Arte Infantil y la Creatividad, y vinculada a las investigaciones del Museo Pedagógico de Arte Infantil (MUPAI) del Departamento de Didáctica de la Expresión Plástica de la Universidad Complutense de Madrid. Abierto un nuevo espacio, la hospitalización infantil, en la investigación en torno a la creatividad y educación artística del niño, surge la posibilidad, por todos los condicionantes que se analizarán en esta tesis, de tr...

El desarrollo de la creatividad en la Educación Infantil a través de los microrrelatos

OpenAIRE

Díaz Molinero, María

2014-01-01

Con mi Trabajo de Fin de Grado pretendo ofrecer una propuesta para trabajar en las aulas de educación infantil, congenieando un triple concepto: creatividad, imaginación y lenguaje. [...] Grado en Educación Infantil

Carácter axiológico del cuento infantil en las prácticas educativas

Directory of Open Access Journals (Sweden)

Dra. C. María Cristina Tamayo Valdés

2016-06-01

Full Text Available El objetivo de este artículo es demostrar el carácter axiológico del cuento infantil en el proceso de enseñanza-aprendizaje de la narración oral. Para cumplir este propósito se analiza cómo el texto y los textos cumplen determinadas funciones en el proceso en que se enseña la oralidad narrativa; por eso, el proceso de enseñanza-aprendizaje de la narración oral está guiado por la diversidad de textos que han de estar presentes en el aula; en particular, interesa el cuento infantil por sus valores en la educación moral y estética de los escolares. Importa atender los valores a partir de las influencias educativas y formativas de los cuentos infantiles, en función del desarrollo integral de la personalidad de los niños y jóvenes. En función de entender la integridad y posición del cuento infantil oral se considera, en principio, el desarrollo de la situación lingüístico-comunicativa a mejorar.

Infantile encephalitic beriberi: magnetic resonance imaging findings

Energy Technology Data Exchange (ETDEWEB)

Wani, Nisar A. [Government Medical College Srinagar, Department of Pediatric Radiology, Jammu and Kashmir, Pin (India); Qureshi, Umar A.; Ahmad, Kaiser; Ahmad, Waseem [Government Medical College Srinagar, Department of Pediatrics, Jammu and Kashmir (India); Jehangir, Majid [Government Medical College Srinagar, Department of Radiology, Jammu and Kashmir (India)

2016-01-15

Thiamine deficiency in infants is still encountered in developing countries. It may present with acute neurological manifestations of infantile encephalitic beriberi. To review brain MRI findings in infantile encephalitic beriberi from a single institution. A retrospective review of MRI scans in 22 infants with acute-onset beriberi encephalopathy was carried out. Hyperintense lesions on T2-weighted images were seen symmetrically in the putamen in all patients, in the caudate nuclei in 16/22 (73%), the thalami in 7/22 (32%) and the globi pallidi in 3/22 (14%) of the infants. Altered signal intensity lesions in the cerebral cortex were seen in 7/22 (32%). The mammillary bodies were seen in one infant and the periaqueductal gray matter in two. There was restricted diffusion in 14/22 (64%), and 6/8 children with no evidence of restriction had been imaged ≥10 days after presentation. MR spectroscopy showed increased lactate peak in 6/8 infants (75%). Recognition of symmetrical T2-W hyperintense lesions in the basal ganglia with restricted diffusion and prominent lactate peak may allow early diagnosis of encephalitic beriberi in at-risk infants. (orig.)

Identifying genetic variants that affect viability in large cohorts.

Directory of Open Access Journals (Sweden)

Hakhamanesh Mostafavi

2017-09-01

Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

¿Ludistas o convencidos? Una aproximación a la realidad televisiva infantil

OpenAIRE

Francés Barceló, María Teresa

2005-01-01

Las aproximaciones teóricas a la realidad televisiva infantil siguen mostrando un horizonte desolador, sembrado de alusiones constantes a la violencia, la vacuidad de los mensajes, la pobreza de su lenguaje o la carga ideológica que arrastran consigo los contenidos y, la influencia de todo ello, claro está, en las mentes inmaduras de los más pequeños. Si bien es cierto que el panorama de la programación infantil encuentra en estas apreciaciones parte de su verdad, muchas encierran...

La co-creatividad en las marcas transmedia infantiles desde la perspectiva del productor

OpenAIRE

Urbano, Rosalía; Aguaded Gómez, José Ignacio; Bernal-Bravo, César

2018-01-01

La creatividad es imprescindible en las producciones transmedia, se sitúa en la base para generar una buena franquicia de entretenimiento infantil. En el estudio se detallan las acciones y competencias del productor en su propio modelo creativo, investigación interpretativa de dos estudios de casos sobre marcas transmedia infantiles de animación. Observaciones, entrevistas y análisis de documentos siguiendo la teoría fundamentada, perfecta para la interpretación de información en el área de c...

El trabajo infantil y la recesión económica de 1999 en Colombia.

Directory of Open Access Journals (Sweden)

Claudia Marcela Umaña Aponte

2010-05-01

Full Text Available El artículo examina la relación entre crecimiento económico, ingresos de las familias, empleo infantil y asistencia escolar en Colombia. También analiza el impacto de la recesión económica de 1999 en la educación y empleo infantil. Una importante contribución del artículo es el uso de datos microeconómicos y macroeconómicos en la estimación de los modelos empíricos, ya que nos permiten analizar los determinantes micro y macroeconómicos del empleo infantil. Los resultados muestran que el ingreso de las familias y el crecimiento económico son relevantes para el proceso de decisión de las familias sobre educación y empleo de los niños. Encontramos que en Colombia el empleo infantil es contra cíclico y la educación es pro cíclica respecto al crecimiento económico. En consecuencia, mayores niveles de ingreso social aumentan el bienestar de los niños ofreciéndoles mayor educación y menores responsabilidades económicas. Esto implica que la principal razón por la cual los niños trabajan en Colombia es la pobreza. El impacto de la crisis de finales de los años 90 sobre el empleo infantil y la educación fue un incremento fuerte de niños en la fuerza laboral y una leve reducción en la asistencia escolar.

Infantile Short Bowel Syndrome: short and long term evaluation

NARCIS (Netherlands)

J.F. Olieman (Joanne)

2009-01-01

textabstractInfantile short bowel syndrome is a condition which is characterized by malabsorption of nutrients, as a result of congenital intestinal shortening or massive small bowel resection. Survival rates have improved over the years, but morbidity remains high and clinical management of these

Crecimiento y estado nutricional infantil en San Salvador de Jujuy

Directory of Open Access Journals (Sweden)

Bejarano, Ignacio

2001-01-01

Full Text Available La recolección de datos antropométricos dentro de un programa de asistencia sanitaria y alimentaria permite definir el estado nutricional y de salud de los individuos y en base a esta información planificar, ejecutar y valorar la incidencia de dicho programa en la población. El objetivo de este trabajo fue evaluar el crecimiento y estado nutricional de una población infantil (1-5 años residente en barrios periféricos de San Salvador de Jujuy y comprendida en el Programa Materno Infantil (PROMIN. Los datos procedieron de mediciones de peso (kg y talla (cm realizadas en 4616 niños, los que se agruparon por sexo y edad decimal. Los indicadores utilizados fueron: peso, talla, puntuación z (Pz, índice de masa corporal (IMC. Los resultados indicaron que: 1 la mayoría de la población se encontró entre 2z: 98,9% para talla/edad (T/E y 96.6% para peso/edad (P/E (estándar nacional; 99.4% para T/E y 97.7% para P/E (estándar internacional; 2 los valores promedios del IMC en todos los grupos de edad y en ambos sexos, fueron superiores a los de referencia, resultando estas diferencias estadísticamente significativas (p<0.01. Se concluye que el crecimiento y el estado nutricional de esta población se ajusta al de las poblaciones de referencia nacional e internacional y que, probablemente este comportamiento, el cual no refleja la situación general del resto de las poblaciones infantiles de la Provincia de Jujuy, responda al efecto de la asistencia alimentaria, médica y sanitaria ofrecida por el PROMIN y a las características socioeconómicas, demográficas y culturales propias de esta población infantil.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Science.gov (United States)

Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; Brunner, Han G; Keren, Boris; Thevenon, Julien; Faivre, Laurence; Thomas, Gary; Thauvin-Robinet, Christel

2018-05-03

Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis. Copyright © 2018 American Society of Human Genetics. All rights reserved.

Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

Science.gov (United States)

Joyce, Angela

2016-06-01

This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. Copyright © 2016 Institute of Psychoanalysis.

de nutrición infantil 2001-2002.

Directory of Open Access Journals (Sweden)

Lucía Díez-Gañán

2007-01-01

Full Text Available Fundamento: Para conocer la situación alimentaria y nutricional en la población infantil, sobre la que no existía información actualizada, el Instituto de Salud Pública desarrolló la Encuesta de Nutrición Infantil de la Comunidad de Madrid 2001/2002 (ENICM. En este trabajo se analiza la ENICM para describir y evaluar la ingesta de alimentos, energía y nutrientes en esta población. Métodos: Estudio transversal sobre una muestra representativa de la población de 5-12 años de la Comunidad de Madrid. La información alimentaria se recogió en 2001 y 2002 mediante dos recuerdos de 24 horas. Se ha estudiado la ingesta total diaria de alimentos, energía y nutrientes. Los análisis incluyen los 1.852 niños con información completa en los dos recuerdos (90,8% de las entrevistas realizadas. Resultados: La ingesta media total diaria de alimentos es 1.460,7 gramos/persona/día. Salvo para los lácteos, huevos y aceites, la ingesta en los grupos alimentarios básicos es inadecuada, particularmente baja en las frutas frescas, verduras y hortalizas. La ingesta media energética y nutricional resultante es 1.905,9 kcal/persona/día; 43,6% hidratos de carbono; 17,4% proteínas, 39,0% lípidos (13,3% grasas saturadas, 16,8% monoinsaturadas, 5,0% poliinsaturadas; 363,8 mg de colesterol; 13,6 g de fibra e ingestas por debajo de las recomendadas de zinc, ácido fólico, vitaminas D y E (ambos sexos y hierro y vitamina B6 (niñas. Conclusiones: La dieta de la población infantil de la Comunidad de Madrid presenta desequilibrios que es necesario mejorar: ingesta inadecuada de alimentos básicos, exceso de proteínas, grasas saturadas y colesterol y déficit de hidratos de carbono, fibra y algunos micronutrientes.

La música en los juegos de patio en educación infantil

OpenAIRE

Escorial Blázquez, Sandra María

2012-01-01

Los cambios socioeconómicos y culturales que hemos vivido en las últimas décadas han afectado a todas las estructuras de la sociedad, cambiando las formas de jugar y divertirse de los niños y niñas de infantil. Trataremos de analizar la situación actual que se desarrolla en el patio de recreo infantil. Centrándonos en la música y el juego, como elementos fundamentales que participan en el desarrollo integral de la persona. El recreo es un espacio-tiempo para jugar libremente y todos los utili...

Infantile malignant osteopetrosis: A case report of three siblings

Directory of Open Access Journals (Sweden)

Sahil Jain

2013-01-01

Full Text Available Infantile malignant osteopetrosis, a rare hereditary, generalized disorder of bone characterized by a significant increase in the density of the skeletal tissues is described in three siblings. The incidence, genetic etiology, clinical, laboratory, radiological features, management and prognosis have been discussed.

Hacia una educación infantil de calidad

Directory of Open Access Journals (Sweden)

Ana Lupita Chaves Salas

2004-01-01

Full Text Available El artículo analiza las funciones que cumple la educación infantil dentro de la sociedad y da a conocer algunos criterios de calidad para valorar los programas dirigidos a la educación del niño y la niña menor de seis años

Evolución de la mortalidad infantil en la ciudad de Barcelona (1983-1998 Trends in infant mortality in Barcelona [Spain], 1983-1998

Directory of Open Access Journals (Sweden)

Emma Albacar

2004-02-01

Full Text Available Objetivo: Analizar las tendencias de la mortalidad infantil, teniendo en cuenta sus componentes y las principales causas de defunción entre los años 1983 y 1998 en la ciudad de Barcelona. Métodos: Se han calculado las tasas globales y por sexos de la mortalidad infantil, posneonatal, neonatal, neonatal tardía y neonatal precoz de los residentes de la ciudad de Barcelona entre los años 1983 y 1998, con los datos procedentes de los registros de mortalidad y natalidad. Los datos se han agrupado en períodos de 4 años y se han ajustado los modelos de regresión de Poisson con la finalidad de calcular los riesgos relativos de mortalidad que comparen estos períodos. También se ha calculado la variación porcentual entre las tasas de los períodos definidos. Resultados: En total, durante estos 16 años hubo 1.564 muertes. De éstas, 896 corresponden a niños (57,3% y las 668 restantes a niñas (42,7%. Las tasas de mortalidad infantil oscilan entre 10,5 por 1.000 nacidos vivos en el año 1986 y 3,4 10 años después, en el año 1996. Entre los años 1983 y 1988 se observa un estancamiento de la mortalidad infantil, y a partir del año 1989 se nota una disminución en las tasas de mortalidad infantil. La tasa de mortalidad neonatal, y sobre todo la neonatal precoz, experimentan un descenso más pronunciado que la mortalidad posneonatal. Las causas de defunción más frecuentes son las debidas a defectos congénitos (47,4% seguidas por las causas perinatales (32,1%. Conclusiones: Tras analizar la tendencia de la mortalidad infantil y haber observado la de años anteriores, se concluye que las tasas de mortalidad infantil han disminuido durante el período estudiado, aunque no con la misma intensidad que en décadas anteriores.Objective: To analyze trends in infant mortality, taking into account its main components and the principal causes of death between 1983 and 1998 in the city of Barcelona (Spain. Methods: We calculated overall mortality rates

The relationship between abduction deficit and reoperation among patients with infantile esotropia

Directory of Open Access Journals (Sweden)

Zhale Rajavi

2018-03-01

Full Text Available AIM: To determine the relationship between abduction deficit and reoperation among patients with infantile esotropia (IET. METHODS: The records of 216 patients (432 eyes with IET who underwent surgery, from 2010 to 2015 were studied. Patients with IET whose deviation appeared before 6mo of age and had stable preoperative deviation in two examinations with at least 2wk apart and a minimum 3mo postoperative follow up were included. Cases with early onset accommodative esotropia, congenital cataract, retinopathy of prematurity (ROP, manifest nystagmus, fundus lesions, neurologic and ophthalmic anomalies, 6th nerve palsy and Duane’s syndrome were excluded. Preoperative abduction deficit was considered from -1 to -3 grading scale. Three months after surgery, children were classified into no-need reoperation [deviation≤15 prism diopters (PD], and need-reoperation groups (deviation>15 PD. RESULTS: In this retrospective study, 117 female and 99 male patients with the mean surgical age of 4.7±6.4y were included. Reoperation rate was 33.3% and 16.0% in IET patients with and without abduction deficit, respectively in patients who had a history of late surgery. Abduction deficit increased the odds of reoperation by 82% [OR=1.82, 95% confidence interval (CI =1.05 to 3.19, P=0.003] in patients who had a history of late surgery (>2 years old, P=0.021. Abduction deficit was improved significantly after operation (P<0.001. CONCLUSION: Based on our results, abduction deficit can be considered as a risk factor of reoperation in IET patients who are operated at the age of more than 2y.

La neuropsicología infantil desde la perspectiva histórico-cultural.

Directory of Open Access Journals (Sweden)

Luis Alberto Taype-Huarca

2015-01-01

Full Text Available Cada vez se tienen mas avances dentro de laneuropsicologfa infantil en su interes por los problemascomportamentales y cognitivos del desarrollo, eneste artfculo se presenta una revisi6n de la propuestaneuropsicol6gica hist6rico-cultural,Uno de los puntos principales def desarroOo delaneuropsicologfa contemporanea es la conceptualizaci6nde la neuropsicologfa de las diferencias individualeso neuropsicologfa de la normal|dad que permite lafundamentaci6n de la neuropsicologia infantil, trazandoseUna Clara diferencia con la neuropsicologfa clSsica. Seanalizan las consideraciones te6ricas, neuropsicol6gicasy psicol6gicas, de estudio como son: el analisis de losfactores neuropsicol6gicos, los componentes del sistemafuncional complejo, las nuevas formaciones psicol6gicasde la edad, la formaci6n par etapas de las acciones y losconceptos; y las actfvidades fundamentales de la edad.Finalmente resaltamos la importancia de la propuestaestudiada par su consistencia te6rica y su Clara direcci6nhacia la complementaci6n de la evaluaci6n, el diagn6sticoy la correcci6n en la neuropsicologia infantil; asimismo seVa|Oran las ventajas y diffcultades para la consolidaci6n deeste modelo a nivel clinico e investigativo.

Nutrigym Kids Center "Club Integral Infantil en el Sector Ceibos de Guayaquil

OpenAIRE

Espol; Orellana Vélez, María Verónica; Vargas Pino, Jonathan Roberto

2016-01-01

Nutrigym Kids Center Club infantil en el sector ceibos de Guayaquil ha sido desarrollado para un segmento de mercado específico con un problema actual de salud que está predominado en el país que es la obesidad infantil. El segmento de mercado son los niños entre los 5 y 11 años de edad que padecen sobrepeso u obesidad y ademas que no estén interesados en actividades deportiva comunes la ubicación es estratégica puesto que estará en un sector donde la mayoría de los posibles clientes es cla...

Inflammatory myofibroblastic tumors of the lung carrying a chimeric A2M-ALK gene: report of 2 infantile cases and review of the differential diagnosis of infantile pulmonary lesions.

Science.gov (United States)

Tanaka, Mio; Kohashi, Kenichi; Kushitani, Kei; Yoshida, Misa; Kurihara, Sho; Kawashima, Masumi; Ueda, Yuka; Souzaki, Ryota; Kinoshita, Yoshiaki; Oda, Yoshinao; Takeshima, Yukio; Hiyama, Eiso; Taguchi, Tomoaki; Tanaka, Yukichi

2017-08-01

We report 2 infantile cases of pulmonary tumor carrying a chimeric A2M-ALK gene. A2M-ALK is a newly identified anaplastic lymphoma kinase (ALK)-related chimeric gene from a tumor diagnosed as fetal lung interstitial tumor (FLIT). FLIT is a recently recognized infantile pulmonary lesion defined as a mass-like lesion that morphologically resembles the fetal lung. Grossly, FLIT characteristically appears as a well-circumscribed spongy mass, whereas the tumors in these patients were solid and firm. Histologically, the tumors showed intrapulmonary lesions composed of densely proliferating polygonal or spindle-shaped mesenchymal cells with diffuse and dense infiltrations of inflammatory cells forming microcystic or micropapillary structures lined by thyroid transcription factor 1-positive pneumocytes, favoring inflammatory myofibroblastic tumor rather than FLIT. The proliferating cells were immunoreactive for ALK, and A2M-ALK was identified in both tumors with reverse-transcription polymerase chain reaction. The dense infiltration of inflammatory cells, immunoreactivity for ALK, and identification of an ALK-related chimeric gene suggested a diagnosis of inflammatory myofibroblastic tumor. Histologically, most reported FLITs show sparse inflammatory infiltrates and a relatively low density of interstitial cells in the septa, although prominent infiltration of inflammatory cells and high cellularity of interstitial cells are seen in some FLITs. The present cases suggest that ALK rearrangements, including the chimeric A2M-ALK gene, may be present in these infantile pulmonary lesions, especially those with inflammatory cell infiltration. We propose that these infantile pulmonary lesions containing a chimeric A2M-ALK gene be categorized as a specific type of inflammatory myofibroblastic tumor that develops exclusively in neonates and infants. Copyright © 2017 Elsevier Inc. All rights reserved.

Clinical research of benign infantile convulsions with mild gastroenteritis

Directory of Open Access Journals (Sweden)

Wei-bing LI

2014-03-01

Full Text Available Cases of benign infantile convulsions with mild gastroenteritis (BICE treated in our hospital from 2008 to 2012 were analyzed retrospectively. Among the 65 cases of convulsions with acute diarrhea, there were 18 cases of BICE, 15 cases of febrile seizures, 13 cases of epilepsy, 6 cases of viral encephalitis, 6 cases of hyponatremia encephalopathy, 3 cases of hypernatremia encephalopathy, 2 cases of toxic encephalopathy, and 2 cases of hypocalcemia convulsion. The convulsion occurred mostly during the first 2 d of the illness and was in a generalized tonic or tonic-clonic form. Positive rotavirus antigens in the BICE patients were detected in 83.33％ (15/18. Phenobarbital was administered after the first convulsion (5-10 mg/kg, and diazepam was given intravenously in case of recurrence (0.10-0.30 mg/kg. BICE occurs frequently in infantile and controlling relapse is the main purpose. The prognosis is good. doi: 10.3969/j.issn.1672-6731.2014.03.019

Determinantes del trabajo infantil y la escolaridad: el caso del Valle del Cauca en Colombia

Directory of Open Access Journals (Sweden)

Sebastián Urueña Abadía

2009-10-01

Full Text Available Colombia, al igual que la mayoría de países latinoamericanos, consciente de las repercusiones sociales y económicas negativas del trabajo infantil, se ha comprometido en la lucha por la erradicación de este fenómeno. Prueba de ello es la ratificación por parte del gobierno colombiano en el año 2007, del Convenio 182 de la OIT sobre la Prohibición de las Peores Formas de Trabajo Infantil y la Acción Inmediata para su Eliminación. En el plano regional, como parte del Plan de Desarrollo del Departamento del Valle del Cauca 2008-2011, se está implementando actualmente una estrategia territorial de erradicación del trabajo infantil en sus 42 municipios. Considerando este panorama, este trabajo indaga cuáles son los determinantes del trabajo infantil y la escolaridad en el departamento del Valle a partir de los datos de la Encuesta Nacional de Calidad de Vida del año 2003. Para el análisis se emplea un modelo econométrico Probit Bivariado, que permite el estudio conjunto e interrelacionado de decisiones diferentes, en este caso la asistencia escolar y el trabajo.

Serial elongation derotation flexion (EDF) casting for patients with infantile and juvenile scoliosis.

Science.gov (United States)

Canavese, Federico; Rousset, Marie; Mansour, Mounira; Samba, Antoine; Dimeglio, Alain

2016-02-01

Infantile and juvenile scoliosis, among different types of spinal deformity, is still a challenge for pediatric orthopedic surgeons. The ideal treatment of infantile and juvenile scoliosis has not yet been identified as both clinicians and surgeons still face multiple challenges, including preservation of the thoracic spine, thoracic cage, lung growth and cardiac function without reducing spinal motion. Elongation, derotation, flexion (EDF) casting technique is a custom-made thoracolumbar cast based on a three dimensional correction concept. This cast offers three-dimensional correction and can control the evolution of the deformity in some cases. Spinal growth can be guided by EDF casting as it can influence the initially curved spine to grow straighter. This article aimed to provide a comprehensive review of how infantile and juvenile scoliosis can affect normal spine and thorax and how these deformities can be treated with serial EDF casting technique. A current literature review is mandatory in order to understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in young and very young patients.

Atuação do psicólogo frente aos transtornos globais do desenvolvimento infantil

Directory of Open Access Journals (Sweden)

José Carlos Souza

Full Text Available Os autores fazem uma revisão bibliográfica sobre a atuação do psicólogo frente aos transtornos globais do desenvolvimento infantil, especificamente sobre: autismo infantil, síndrome de Asperger e síndrome de Rett. Inicialmente, apresenta-se uma noção do desenvolvimento infantil, e, então, abordam-se os possíveis transtornos, com suas respectivas definições, etiologias, critérios diagnósticos, diagnóstico diferencial e tratamento. Durante o processo de intervenção e prevenção junto à criança, destacam-se a importância do psicólogo no tratamento e a eficácia dos recursos psicoterápicos para a melhora de qualidade de vida da criança com a síndrome.

Atuação do psicólogo frente aos transtornos globais do desenvolvimento infantil

Directory of Open Access Journals (Sweden)

José Carlos Souza

Full Text Available O artigo apresenta revisão bibliográfica sobre a atuação do psicólogo frente aos transtornos globais do desenvolvimento infantil, especificamente sobre autismo infantil, síndrome de Asperger e síndrome de Rett. Inicialmente, apresenta-se uma noção do desenvolvimento infantil, e, então, abordam-se possíveis transtornos, com suas respectivas definições, etiologias, critérios diagnósticos, diagnóstico diferencial e tratamento. Durante o processo de intervenção e prevenção junto à criança, destacam-se a importância do psicólogo no tratamento e a eficácia dos recursos psicoterápicos para a melhora de qualidade de vida da criança com a síndrome.

Three solutions to a single problem: alternative casting frames for treating infantile idiopathic scoliosis.

Science.gov (United States)

Halanski, Matthew A; Harper, Benjamin L; Cassidy, Jeffry A; Crawford, Haemish A

2013-07-01

This is a technique article discussing 3 alternative frames for casting children with infantile scoliosis. To provide surgeons with alternatives to expensive specialized casting tables to allow local treatment of these children utilizing readily available materials present at most institutions. Casting for infantile scoliosis has become more popular as reports have shown promising results with this technique without the morbidity and complications associated with more invasive procedures. However, without a specialized casting table, treating these patients has been limited to a few centers throughout the country often causing patients to travel large distances to receive care. Three different alternatives to commercially available casting frames are presented. Requirements, setup, and techniques are discussed. Each surgeon has had success with each of these frames. These provide adequate support and traction while allowing enough access to the trunk to apply a well-molded cast. Cotrel/Metha casting for infantile scoliosis can be accomplished without a specialized table using commonly available equipment.

Significaciones del abuso sexual infantil intrafamiliar en contexto mapuche rural

Directory of Open Access Journals (Sweden)

Lilian Sanhueza Díaz

2010-07-01

Full Text Available presente trabajo muestra los resultados de un estudio de caso realizado en la Región de La Araucanía, con actores sociales relevantes para el mundo mapuche y familias afectadas por situaciones de abuso sexual. Se plantean los principales hallazgos, en torno a las visiones que estos actores sociales tienen respecto del abuso sexual infantil intrafamiliar, en el complejo contexto de relaciones interétnicas característicode esta región. Destaca la pérdida de mecanismos de protección propios de la cultura, el potencial rol de las autoridades tradicionales, la vulnerabilidad de la fi gura materna, las condiciones sociofamiliares que constituirían factores de riesgo ante situaciones de abuso sexual infantil y la valorización del rol de facilitador intercultural y de la lengua materna como dispositivo terapéutico.

Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

Directory of Open Access Journals (Sweden)

Arthur M Glenberg

2016-01-01

Full Text Available At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA, faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging.

Niveles de vida y salud en la España del primer franquismo: las desigualdades en la mortalidad infantil

OpenAIRE

Bernabeu Mestre, Josep; Caballero Pérez, Pablo; Galiana Sánchez, María Eugenia; Nolasco Bonmatí, Andreu

2005-01-01

A partir del estudio de las relaciones entre la mortalidad infantil y el desarrollo socioeconómico y sanitario de las provincias españolas, se analizan las desigualdades en salud que mostraban las diferentes regiones en las décadas centrales del siglo XX. Junto a los trabajos sobre mortalidad infantil y políticas de salud materno infantil llevados a cabo por la Dirección General de Sanidad, para los datos relativos a las condiciones y los niveles de vida, además de las informaciones socioecon...

A infância em Piaget e o infantil em Freud: temporalidades e moralidades em questão

Directory of Open Access Journals (Sweden)

Maria Regina Maciel

Full Text Available Resumo O presente artigo propõe uma abordagem comparativa entre as noções de infância em Jean Piaget e de infantil em Sigmund Freud, tomando como conceitos básicos a noção de tempo e de moral em ambos os autores. Sustenta-se ser possível afirmar, a partir de uma leitura da epistemologia genética, que a infância vai-se transformando à medida que agimos e conhecemos de acordo com estruturas cognitivas operatórias. No entanto, segundo a psicanálise, é possível nos remeter ao infantil, presente também na vida adulta. O infantil escapa à racionalidade que subjaz àquela noção de estrutura piagetiana. A permanência do infantil é fonte das experiências criativas e da instauração de um movimento permanente de subjetivação.

Postnatal Expression of V2 Vasopressin Receptor Splice Variants in the Rat Cerebellum

Science.gov (United States)

Vargas, Karina J.; Sarmiento, José M.; Ehrenfeld, Pamela; Añazco, Carolina C.; Villanueva, Carolina I.; Carmona, Pamela L.; Brenet, Marianne; Navarro, Javier; Müller-Esterl, Werner; Figueroa, Carlos D.; González, Carlos B.

2010-01-01

The V2 vasopressin receptor gene contains an alternative splice site in exon-3, which leads to the generation of two splice variants (V2a and V2b) first identified in the kidney. The open reading frame of the alternatively spliced V2b transcripten codes a truncated receptor, showing the same amino acid sequence as the canonical V2a receptor up to the 6th transmembrane segment, but displaying a distinct sequence to the corresponding 7th transmembrane segment and C-terminal domain relative to the V2a receptor. Here, we demonstrate the postnatal expression of V2a and V2b variants in the rat cerebellum. Most importantly, we showed by in situ hybridization and immunocytochemistry that both V2 splice variants were preferentially expressed in Purkinje cells, from early to late postnatal development. In addition, both variants were transiently expressed in the neuroblastic external granule cells and Bergmann fibers. These results indicate that the cellular distributions of both splice variants are developmentally regulated, and suggest that the transient expression of the V2 receptor is involved in the mechanisms of cerebellar cytodifferentiation by AVP. Finally, transfected CHO-K1 .expressing similar amounts of both V2 splice variants, as that found in the cerebellum, showed a significant reduction in the surface expression of V2a receptors, suggesting that the differential expression of the V2 splice variants regulate the vasopressin signaling in the cerebellum. PMID:19281786

TGFβ1 polymorphisms and late clinical radiosensitivity in patients treated for gynecologic tumors

International Nuclear Information System (INIS)

Ruyck, Kim de; Van Eijkeren, Marc; Claes, Kathleen; Bacher, Klaus; Vral, Anne; Neve, Wilfried de; Thierens, Hubert

2006-01-01

Purpose: To investigate the association between six transforming growth factor β1 gene (TGFβ1) polymorphisms (-1.552delAGG, -800G>A, -509C>T, Leu10Pro, Arg25Pro, Thr263Ile) and the occurrence of late normal tissue reactions after gynecologic radiotherapy (RT). Methods and Materials: Seventy-eight women with cervical or endometrial cancer and 140 control individuals were included in the study. According to the Common Terminology Criteria for Adverse Events version 3.0 (CTCAEv3.0) scale, 25 patients showed late adverse RT reactions (CTC2+), of whom 11 had severe complications (CTC3+). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), single base extension and genotyping assays were performed to examine the polymorphic sites in TGFβ1. Results: Homozygous variant -1.552delAGG, -509TT, and 10Pro genotypes were associated with the risk of developing late severe RT reactions. Triple (variant) homozygous patients had a 3.6 times increased risk to develop severe RT reactions (p = 0.26). Neither the -800A allele, nor the 25Pro allele or the 263Ile allele were associated with clinical radiosensitivity. There was perfect linkage disequilibrium (LD) between the -1.552delAGG and the -509C>T polymorphisms, and tight LD between the -1.552/-509 and the Leu10Pro polymorphisms. Haplotype analysis revealed two major haplotypes but could not distinguish radiosensitive from nonradiosensitive patients. Conclusions: The present study shows that homozygous variant TGFβ1 -1.552delAGG, -509TT, and 10Pro genotypes may be associated with severe clinical radiosensitivity after gynecologic RT

Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

Energy Technology Data Exchange (ETDEWEB)

Terespolsky, D.; Siegel-Bartelt, J.; Weksberg, R. [Univ. of Toronto (Canada); Farrell, S.A. [Credit Valley Hospital, Mississauga (Canada)

1995-11-20

Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al., a wide clinical range of cases has been reported. There is great variability in severity, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. In 8 reported families, affected individuals died in infancy. Here we present 4 maternally related, male cousins with a severe variant of SGBS. One of these males was aborted therapeutically at 19 weeks of gestation following the detection of multicystic kidneys on ultrasound. The 3 liveborn males were hydropic at birth with a combination of craniofacial anomalies including macrocephaly; apparently low-set, posteriorly angulated ears; hypertelorism; short, broad nose with anteverted nares; large mouth with thin upper vermilion border; prominent philtrum; high-arched or cleft palate; short neck; redundant skin; hypoplastic nails; skeletal defects involving upper and lower limbs; gastrointestinal and genitourinary anomalies. All 3 patients were hypotonic and neurologically impaired from birth. With the exception of a trilobate left lung in one patient, the cardiorespiratory system was structurally normal. All patients died within the first 8 weeks of life of multiple complications including pneumonia and sepsis. Two SGBS kindreds, with moderate expression of the condition, have been mapped to Xq27. It is not known whether severe, familiar cases, such as ours, are genetically distinct from and map to another locus. Final resolution of the genetic basis of the phenotypic variability in SGBS must await cloning and mutation analysis of the SGBS gene(s). 21 refs., 4 figs., 1 tab.

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy [version 1; referees: 2 approved

Directory of Open Access Journals (Sweden)

Chris D. Balak

2017-09-01

Full Text Available Background: X-linked spinal muscular atrophy (XL-SMA results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1. Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and one synonymous, all lie within Exon15 of the UBA1 gene, which contains the active adenylation domain (AAD. Methods: In this study, our group characterized the three known missense variants in vitro. Using a novel Uba1 assay and other methods, we investigated Uba1 adenylation, thioester, and transthioesterification reactions in vitro to determine possible biochemical effects of the missense variants. Results: Our data revealed that only one of the three XL-SMA missense variants impairs the Ubiquitin-adenylating ability of Uba1. Additionally, these missense variants retained Ubiquitin thioester bond formation and transthioesterification rates equal to that found in the wild type. Conclusions: Our results demonstrate a surprising shift from the likelihood of these XL-SMA mutations playing a damaging role in Uba1’s enzymatic activity with Ubiquitin, to other roles such as altering UBA1 mRNA splicing via the disruption of splicing factor binding sites, similar to a mechanism in traditional SMA, or disrupting binding to other important in vivo binding partners.  These findings help to narrow the search for the areas of possible dysfunction in the Ubiquitin-proteasome pathway that ultimately result in XL-SMA. Moreover, this investigation provides additional critical understanding of the mutations’ biochemical mechanisms, vital for the development of future effective diagnostic assays and therapeutics.

Dibujo infantil como medio de diagnostico

OpenAIRE

González Hernando, Elisa

2015-01-01

Con este documento se pretende demostrar la importancia que tiene el dibujo infantil en el correcto desarrollo integral de las personas. Se estudia la importancia del dibujo y su valor a la hora de utilizarlo como método de diagnóstico ante determinados aspectos que pueden determinar la vida de una persona. En definitiva lo que se desarrolla en este trabajo de Fin de Grado es el papel que juega el dibujo como herramienta para el seguimiento del desarrollo de los individuos centrándonos ...

Estratificación socioeconómica y salud materno infantil en México

OpenAIRE

Carlos Javier Echarri Cánovas

2004-01-01

El objetivo del artículo es el estudio de la salud de los niños en México, mediante un análisis que tenga como eje la diferenciación social, la atención a la salud materno infantil y la estructura familiar. Se argumenta la necesidad de prestar mas atención al análisis de los determinantes que de los indicadores de salud, en virtud de las características de información disponible y de los niveles de mortalidad infantil. Un aspecto metodológico importante es que lo...

W/M serrated osteotomy for infantile Blount's disease in Ghana ...

African Journals Online (AJOL)

2015-10-30

Oct 30, 2015 ... surgical treatment is well suited for developing countries. This study describes .... with infantile Blount's are included for analysis. In this study, we are ... To increase the stability of the osteotomy, the teeth had to be pointed (at ...

Successive neuron loss in the thalamus and cortex in a mouse model of infantile neuronal ceroid lipofuscinosis.

Science.gov (United States)

Kielar, Catherine; Maddox, Lucy; Bible, Ellen; Pontikis, Charlie C; Macauley, Shannon L; Griffey, Megan A; Wong, Michael; Sands, Mark S; Cooper, Jonathan D

2007-01-01

Infantile neuronal ceroid lipofuscinosis (INCL) is caused by deficiency of the lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). We have investigated the onset and progression of pathological changes in Ppt1 deficient mice (Ppt1-/-) and the development of their seizure phenotype. Surprisingly, cortical atrophy and neuron loss occurred only late in disease progression but were preceded by localized astrocytosis within individual thalamic nuclei and the progressive loss of thalamic neurons that relay different sensory modalities to the cortex. This thalamic neuron loss occurred first within the visual system and only subsequently in auditory and somatosensory relay nuclei or the inhibitory reticular thalamic nucleus. The loss of granule neurons and GABAergic interneurons followed in each corresponding cortical region, before the onset of seizure activity. These findings provide novel evidence for successive neuron loss within the thalamus and cortex in Ppt1-/- mice, revealing the thalamus as an important early focus of INCL pathogenesis.

La geometría a través del arte en Educación Infantil

Directory of Open Access Journals (Sweden)

Álvaro ANTÓN SANCHO

2016-06-01

Full Text Available En este trabajo comprobamos que la expresión artística como recurso didáctico, concretamente la obra de un pintor del entorno próximo al alumnado, permite un aprendizaje significativo y motivador de los contenidos de geometría en la etapa infantil, adquirido además de modo globalizado junto a otras áreas de conocimiento. Para ello, hemos analizado el contenido del currículo de geometría de Educación Infantil, hemos descrito cómo ocurre el aprendizaje infantil de la geometría y aportado unas líneas metodológicas generales para trabajarla. Finalmente, hemos realizado una intervención educativa en el área de geometría sobre un grupo de alumnos de tercer curso de Educación Infantil utilizando la obra pictórica de Julio de Pablo como recurso. Los objetivos principales de la propuesta son presentar de modo lúdico y significativo a través de la obra de nuestro autor los diversos contenidos geométricos (topológicos, proyectivos y métricos, favorecer la observación y exploración del entorno con perspectiva geométrica y el desarrollo de la creatividad, la memoria, la reflexión y el juicio crítico. Hemos evaluado inicialmente las habilidades geométricas, artísticas y de capacidad reflexiva e interpretativa, y, tras realizar la intervención, hemos vuelto a evaluar para comparar los datos. El núcleo de este trabajo consiste en describir la intervención, extraer resultados y analizarlos. De ellos colegimos que el recurso a la expresión artística, concretamente a la obra pictórica de un autor del entorno local, permite presentar de modo globalizado, significativo y motivador la totalidad de los contenidos de geometría de Educación Infantil con excelente aprovechamiento por parte del alumnado y de una manera flexible y adaptable a sus necesidades e intereses. Por eso estimamos que una propuesta como la que hacemos es fácilmente adaptable a otros cursos y grupos de Educación Infantil y aprovechable en sus l

Políticas efectivas para reducir la mortalidad infantil en el Perú: ¿Cómo reducir la mortalidad infantil en las zonas más pobres del país?

OpenAIRE

Beltrán, Arlette; Grippa Zárate, Ana Rosa

2014-01-01

El propósito del presente trabajo es hallar aquellos determinantes más efectivos para reducir la mortalidad neonatal e infantil, para que sean utilizados como variables de política por el «policymaker» y se pueda alcanzar el Objetivo de Desarrollo del Milenio # 4: reducir para el año 2015 la tasa de mortalidad infantil a un tercio de su valor inicial de 1992. El trabajo hace uso de dos bases de datos: la IV Encuesta Demográfica y de Salud Familiar (Endes, 2000) y el II Censo de Infraestructur...

La creatividad y la educación artística en educación infantil: Una propuesta educativa

OpenAIRE

Tejedor Valbuena, Lara

2016-01-01

Este documento, refleja la importancia de la creatividad y la Educación Artística en la etapa de Educación Infantil. Este trabajo plantea una revisión de la literatura alrededor de la temática de cómo la creatividad puede fomentarse desde el área de la Educación Artística en Educación Infantil. A su vez, se detalla una propuesta curricular orientada a niños/as de segundo de Educación Infantil con énfasis en la experimentación y la exploración. Las principales conclusiones extraídas tras la pu...

A pedagogia no combate ao trabalho infantil no município de Boa Vista

Directory of Open Access Journals (Sweden)

Lysne Nôzenir Camelo de Lima

2013-09-01

Full Text Available O trabalho infantil expõe as crianças a vários riscos, prejudicando seu desenvolvimento e configura-se como violação de direito. O trabalho apresenta a pedagogia utilizada pelo PETI em Boa Vista; o procedimento foi aplicado através de entrevista semi-estruturada e questionários, aos gestores e as crianças do programa, com enfoque qualitativo e quantitativo, avaliando a participação e satisfação dos integrantes e seus familiares. O PETI tem a finalidade de erradicar as diversas formas de trabalho infantil, assim como retirar das ruas crianças e/ou adolescentes. Sendo o seu público alvo crianças e/ou adolescentes na faixa etária de 07 (sete a 15 (quinze anos de idade. Dentre as ações desenvolvidas estão a de caráter protetivo e sócioeducativo, que compreendem: atividades ludopedagógicas, palestras preventivas e educativas, esportes, artesanatos, músicas e etc. Nesse contexto, cabe ao PETI, como programa estratégico, contribuindo para erradicação do trabalho infantil no Município de Boa Vista. Oportunizando assim as crianças e adolescentes assim como suas famílias a terem uma vida melhor. No resultado final, constatou-se o compromisso em erradicar o trabalho infantil em Boa Vista, priorizando o atendimento as famílias, através da educação social.

Estudio sobre las variables que intervienen en el abandono físico o negligencia infantil

OpenAIRE

Moreno Manso, Juan Manuel

2002-01-01

La escasez de estudios en materia de abandono físico o negligencia determinan un desconocimiento bastante importante de la tipología de maltrato infantil, considerada hoy por hoy como la de mayor incidencia, tanto a través de estudios nacionales como internacionales. Por ello, a través del análisis de diecinueve variables individuales, sociales, relacionales y familiares, pretendemos aportar un mayor conocimiento sobre una práctica de desprotección infantil con...

A obesidade infantil: um olhar sobre o contexto familiar, escolar e da mídia

Directory of Open Access Journals (Sweden)

Micheli Luttjohann Duré

2015-10-01

Full Text Available Justificativa e Objetivos: O crescente aumento da obesidade em nível mundial aloca este problema como uma epidemia global, enfatizando a mesma como um problema de saúde pública. A obesidade também se coloca como uma doença infantil, exigindo dos profissionais da saúde, ações preventivas que atinjam todo o contexto em que crianças e adultos estejam inseridos. A partir desta temática, objetivou-se discutir a problemática da obesidade infantil e a sua relação com três agentes que influenciam o estilo de vida de escolares com sobrepeso e obesidade: mídia audiovisual, relações familiares e instituições acadêmicas. Conteúdo: Artigo de revisão de literatura onde foram consultados em sites de busca (Scielo e PubMed artigos que tivessem no seu contexto no mínimo dois dos seguintes descritores: instituições acadêmicas, relações familiares, mídia audiovisual e obesidade infantil. Considerou-se como recorte temporal o período de 2009 a 2013. Conclusão: verificou-se a necessidade de políticas públicas que normatizem propagandas destinadas ao público infantil, adequando-as ao perfil educativo preventivo. Além disso, constatou-se que a escola exerce papel fundamental na prática de hábitos alimentares saudáveis. Percebe se, assim, a necessidade de adaptação a essa realidade, tendo a família o papel de mediar e controlar tais ações. DESCRITORES: Mídia audiovisual. Relações familiares. Instituições acadêmicas. Obesidade infantil.

Casting for infantile scoliosis: the pitfall of increased peak inspiratory pressure.

Science.gov (United States)

Dhawale, Arjun A; Shah, Suken A; Reichard, Samantha; Holmes, Laurens; Brislin, Robert; Rogers, Kenneth; Mackenzie, William G

2013-01-01

Serial cast correction is a popular treatment option for progressive infantile scoliosis. Body casting can lead to chest and abdominal expansion restriction and result in decreased chest wall compliance. There are no studies evaluating the effects of casting on ventilation in infantile scoliosis. This study examines changes in peak inspiratory pressure (PIP) during serial casting for infantile scoliosis. We retrospectively reviewed data obtained from 37 serial Cotrel elongation, derotation, and flexion cast corrections in patients with infantile scoliosis. Patient demographics, radiographic measurements, and anesthesia data were recorded. Anesthesia technique was standardized: children were intubated with rigid endotracheal tubes (ETTs); tidal volume was held constant at 8 to 10 cm(3)/kg using volume control ventilation; and PIP was recorded at baseline, after cast application before window cutout, and after window cutout before extubation. Any complications were documented. We assessed the PIP changes with a repeated measures analysis of variance (ANOVA). The mean age at first casting was 21.8 months (range, 12 to 42 mo) and mean follow-up since first casting was 22.4 months (range, 13 to 40 mo) with mean major Cobb angle of 53±15 degrees. The mean PIP was 15.5±4.9 cm H(2)O before casting, 31.9±7.9 cm H(2)O after cast application, and 20.4±5.6 cm H2O after making windows. There was a 106% increase after casting and 32% increase after window cutout from the baseline PIP levels. There was a significant difference in PIP on repeated measures ANOVA (Pcasting and another had delayed difficulty in breathing. Casting resulted in an increased PIP due to transient restrictive pulmonary process; after windows were cut out, the PIP reduced but not to baseline. In patients with underlying pulmonary disease, the casting process may induce respiratory complications, and a proper period of observation after casting is necessary. Case series, level 4.

Las competencias básicas en Educación Infantil. Propuestas prácticas

OpenAIRE

Autrán Mac-Kinlay, Patricia

2014-01-01

Las competencias básicas actualmente solo están reflejadas en la ley a partir de la educación primaria, pero con la realización de este trabajo se destaca la necesidad de ponerlas en funcionamiento en la etapa de Educación Infantil. Para poder desarrollar estas capacidades y habilidades que les ayuden a enfrentarse en los conflictos que se les puedan presentar a lo largo de la vida, por ello hay que aprender desde Educación Infantil, aunque no esté presente para esta etapa en la normativa ...

Tratamiento de la psicomotricidad en el segundo ciclo de la educación infantil

OpenAIRE

Lasaga Rodríguez, María José; Campos Mesa, María del Carmen; Ries, Francis

2013-01-01

Con nuestra investigación pretendemos conocer el tratamiento que recibe la psicomotricidad en el segundo ciclo de la Educación Infantil, desde la opinión de los maestros que se encuentran desarrollando esta profesión. Para ello hemos pasado un cuestionario desde el año 2005 al 2011 a una muestra de 76 sujetos. Tras los resultados obtenidos podemos concluir que los maestros que imparten docencia en el grado de Educación Infantil consideran importante el trabajo de psicomotricidad en sus clase...

Creatividad y matemáticas en educación infantil: Perspectiva Didáctica

OpenAIRE

Fernández Ruiz, Cristina

2013-01-01

En el presente Trabajo Fin de Grado se pretende ahondar en el conocimiento sobre la creatividad y las matemáticas en Educación Infantil desde una perspectiva didáctica. Tras entender la creatividad y las matemáticas como aspectos importantes para el desarrollo integral de los/as alumnos/as y desde la necesidad actual de formar personas “creativas”, nos centramos en una propuesta didáctica para segundo ciclo de Educación Infantil, basada en la teoría de las Inteligencias Múltiples de Howard Ga...

Pedagogia de Projetos como metodologia no trabalho com a educação infantil

OpenAIRE

Patricia Frageri

2016-01-01

Este artigo teve como tema a Pedagogia de Projetos como metodologia no trabalho com a Educação Infantil e a pesquisa foi realizada na escola Gente Feliz de Sinop. A investigação teve como objetivo conhecer em que consiste a metodologia de trabalho pautada na pedagogia de projetos, e suas interfaces, no contexto da educação infantil. Os instrumentos de pesquisa foram entrevista e questionário com duas professoras. Os resultados mostram que a instituição prioriza a metodologia de trabalho por p...

A obesidade infantil: um problema emergente

OpenAIRE

Sousa, Joana; Loureiro, Isabel; Carmo, Isabel do

2008-01-01

A obesidade é um dos problemas de saúde mais graves que afecta crianças e adolescentes a nível mundial. As evidências sugerem que o problema está a agravar-se rapidamente. O aumento da prevalência de obesidade infantil pode fazer com que a próxima geração apresente indicadores de obesidade no adulto superiores aos indicadores actuais. Pelo facto de a obesidade estar intimamente associada a diferentes patologias crónicas faz com que estejamos perante um enorme desafio para o sistema de cuidado...

TFG-MET fusion in an infantile spindle cell sarcoma with neural features.

Science.gov (United States)

Flucke, Uta; van Noesel, Max M; Wijnen, Marc; Zhang, Lei; Chen, Chun-Liang; Sung, Yun-Shao; Antonescu, Cristina R

2017-09-01

An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression. Although this immunoprofile suggested partial neural/neuroectodermal differentiation, overall features were unusual and did not fit into any known tumor types (cellular schwannoma, MPNST), raising the possibility of a novel pathologic entity. The TFG-MET gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital spindle cell sarcomas, with yet another example of kinase oncogenic activation through chromosomal translocation. The discovery of this new fusion is significant since the resulting MET activation can potentially be inhibited by targeted therapy, as MET inhibitors are presently available in clinical trials. © 2017 Wiley Periodicals, Inc.

Tuberculose infantil: estudo retrospectivo

Directory of Open Access Journals (Sweden)

Boaventura Antonio dos Santos

2011-10-01

Full Text Available Introdução: A tuberculose (TB infantil permanece como uma das doenças mais prevalentes e preocupantes no mundo, sobretudo em nações em desenvolvimento, onde as taxas são ainda mais elevadas e os casos descritos subestimados pela dificuldade em se estabelecer um diagnóstico definitivo. Dessa forma, este estudo tem como objetivo descrever o perfil clínico e epidemiológico dos pacientes com TB infantil pulmonar e extrapulmonar. Métodos: Foram avaliados retrospectivamente, através de questionário, pacientes com idade de até 15 anos, internados no Serviço de Pediatria do HCPA, no período de janeiro de 2002 a setembro de 2007.   Resultados: Dos 52 pacientes incluídos, 63% apresentavam TB pulmonar. Das formas extra-pulmonares, a meningoencefalite foi a mais prevalente (22%. Comorbidades foram dectadas em 31 (60% pacientes, dos quais 15 (29% apresentavam desnutrição grave, 9 (18% HIV positivo e 7 (13% pneumopatia crônica. Das manifestações clínicas, febre e tosse estavam presentes na maioria dos pacientes. O padrão radiológico predominante foi o de consolidação pulmonar (51%. A maioria dos pacientes referia história de contato com paciente bacilífero (64%. Conclusão: A TB pulmonar representa a principal forma de apresentação clínica da TB, sendo o diagnóstico feito de forma presuntiva na maioria dos casos. O diagnóstico baseado na comprovação bacteriológica foi obtido numa minoria de pacientes, demonstrando a importância dos achados clínico-laboratoriais, história epidemiológica e vacinal para o diagnóstico. Nesse sentido, a criação de escores tem se tornado uma ferramenta de fácil acesso e com razoável acurácia para auxiliar o diagnóstico de TB em serviços de baixa complexidade, especialmente o ambulatorial.

Accurate genotyping across variant classes and lengths using variant graphs

DEFF Research Database (Denmark)

Sibbesen, Jonas Andreas; Maretty, Lasse; Jensen, Jacob Malte

2018-01-01

of read k-mers to a graph representation of the reference and variants to efficiently perform unbiased, probabilistic genotyping across the variation spectrum. We demonstrate that BayesTyper generally provides superior variant sensitivity and genotyping accuracy relative to existing methods when used...... collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the reads to the variants and reference simultaneously. However, this realignment problem has proved computationally difficult. Here, we present a new method (BayesTyper) that uses exact alignment...... to integrate variants across discovery approaches and individuals. Finally, we demonstrate that including a ‘variation-prior’ database containing already known variants significantly improves sensitivity....

Políticas públicas para a educação infantil em Porto Velho/RO (1999/2008

Directory of Open Access Journals (Sweden)

Juracy Machado Pacífico

2014-02-01

Full Text Available Este estudo trata das políticas públicas educacionais de modo geral e analisa especificamente as políticas públicas de Educação Infantil desenvolvidas pela Secretaria Municipal de Educação (SEMED de Porto Velho/RO, no período de 1999 a 2008. Caracteriza-se como estudo de abordagem qualitativa, com análise de dados qualitativos e quantitativos. Nos resultados observa que aspectos fundamentais para a garantia de educação infantil de qualidade e que priorize o desenvolvimento integral da criança não foram suficientemente considerados, o que demonstra a pouca atenção por parte do Município de Porto Velho a ela dispensada. O estudo concluiu que embora as políticas nacionais atuais tenham contemplado a Educação Infantil com financiamento, este ainda é insuficiente para a garantia das condições mínimas adequadas à manutenção e desenvolvimento do ensino dessa etapa. Considera o acesso à Educação Infantil como fundamental para a garantia do desenvolvimento pleno da criança e defende a proposta de que para a consolidação da Educação Infantil de qualidade serão necessários, no mínimo, três aspectos: a priorização dessa etapa no rol das ações da SEMED, a definição de metas e a ampliação dos recursos financeiros, tanto para a expansão e aparelhagem de escolas, como para a manutenção e desenvolvimento da Educação Infantil.

Asthme Infantile: Les facteurs de risque modifiables | Monebenimp ...

African Journals Online (AJOL)

Cette étude transversale avait pour objectif de déterminer les facteurs de risque modifiables de l'asthme infantile. En d'autres termes, il s'agit des facteurs pour lesquels l'on pourrait ... La période de recrutement s'étendait du 1er Août au 31 Décembre 1999. L'enfant devrait avoir une difficulté respiratoire avec sifflement ...

Repertorio tradicional infantil de Cádiz: texto, rito, gesto y símbolo

Directory of Open Access Journals (Sweden)

María Jesús Ruiz

2009-01-01

Full Text Available El repertorio infantil de tradición oral recogido en la provincia de Cádiz en los últimos veinte años reúne un corpus frondoso de retahílas y canciones. El trabajo propone, en una primera parte, una clasificación del repertorio atendiendo a la organización poética de los textos. En una segunda parte, se intentan descifrar los ritos, motivos y símbolos que pertenecieron al mundo folklórico adulto y que -refugiándose en el grado cero de la transmisión tradicional- han quedado confiscados por el folklore infantil.

Toy Library: space research on the play of children in school of infantile education

Directory of Open Access Journals (Sweden)

Aline Sommerhalder

2011-06-01

Full Text Available This article deals with the toy library as an area of research on child's play and on the child. In dialogue with psychoanalysis, the article aims to address aspects that characterize the children play in an environment of toy library. The study presents a reflection from the results of six sessions of observation of the ‘house play’ among children of the school of infantile education. The observation of the play activity was accompanied by the daily record in the field of actions and words of the thirteen children participating in the study. The study shows that the child is playing in a subjective space and is a preferred vehicle for achieving symbolic of desires and fantasies, the reality of transformation and creation of new knowledge. Therefore, it emphasizes the importance of valuing the toy library at school as a way of redemption and make of play in school of infantile education and highlights the value of play for learning and development of children in school of infantile education.

La TDT: El gran contenedor infantil del futuro

Directory of Open Access Journals (Sweden)

María Dolores MORENO RODRÍGUEZ

2009-08-01

Full Text Available RESUMEN: Los expertos en edu-comunicación apuestan por la tematización que favorece la proliferación de canales infantiles al amparo de las nuevas frecuencias disponibles a través de la TDT. Reconocen, asimismo, la interactividad como un valor añadido aplicable a la producción televisiva infantil en tanto que elemento clave en la estimulación de la creatividad y recepción participativa por parte del niño. En cambio, los especialistas rechazan los sistemas de control parental por resultar ineficaces y evidenciar la insuficiente implicación de las familias en la educación televisiva de sus hijos. Así lo revela la investigación de la que damos cuenta en este artículo y que ha sido desarrollada mediante la configuración de un panel de treinta expertos que se han pronunciado sobre la TDT, sus nuevos usos y servicios de aplicación en la programación infantil. La obtención de información se ha llevado a cabo mediante la aplicación del Método Delphi lo que ha permitido la aportación deslocalizada y asincrónica de expertos procedentes de distintas áreas geográficas y científicas. Siendo de este modo que hemos reunido la opinión de especialistas en pedagogía, didáctica, periodismo, televisión educativa y televisión infantil, así como de representantes de observatorios audiovisuales, consejos, revistas especializadas, y asociaciones de consumidores.ABSTRACT: Experts in edu-communication are in favour of the thematic specialization that encourages the proliferation of children’s channels under the protection of the new frequencies available through DTTV. They also recognize the interactivity available as a value added applicable to children’s television production as a key element in the stimulation of children’s creativity and participatory reception. However, the specialists reject the systems of parental control because they are ineffective and demonstrate the insufficient involvement of the families in the televised

Literatura y juego: Las canciones escenificadas infantiles

Directory of Open Access Journals (Sweden)

Cerrillo Torremocha, Pedro C.

2004-12-01

Full Text Available The main goal of this paper is to analyze the content and structure of stagey children songs (skipping, rows, swing, playing a game standing in a ring.... These songs are considered to be orally-transmitted compositions, necessarily accompanied by an action that requires either staging or specific body language. I focus on those songs that contain popular and traditional ballads, or parts thereof. Reference is also made to the gradual disappearance of these compositions and the impact of this fact on the way children learn them nowadays, before they are put into writing.

El autor analiza los contenidos y la estructura organizativa de las canciones escenificadas infantiles (corro, comba, filas, columpio..., que son composiciones que van necesariamente acompañadas de una acción que se representa o, cuando menos, de una serie de gestos muy concretos, deteniéndose expresamente en aquellas canciones infantiles en las que sobreviven romances, o partes de romances, de amplia difusión popular en otros tiempos. En el último apartado, el trabajo se refiere al proceso de desaparición que sufren estas composiciones, lo que provoca un aprendizaje diferente de las mismas (previo paso de la oralidad a la escritura por los niños y niñas de hoy.

Impacto psicológico del maltrato infantil en la sociedad

OpenAIRE

Prieto Valderrábano, Lorena

2015-01-01

La autora presenta en este trabajo el maltrato infantil, los tipos de maltrato y sus múltiples consecuencias, el impacto psicosocial que acarrea este acto y el proceso de detección y la evaluación que realiza el psicólogo en estos casos

Justificación de la educación física en la educación infantil Justificagáo da educagáo física na educagáo infantil Justification for Physical Education at the Preschool Level

Directory of Open Access Journals (Sweden)

Pedro Gil-Madrona

2008-12-01

Full Text Available El progresivo descubrimiento del propio cuerpo como fuente de sensaciones, la exploración de las posibilidades de acción y funciones corporales, constituirán experiencias obligatorias sobre las cuales ir construyendo el pensamiento infantil. De igual forma, las relaciones afectivas establecidas en situaciones de actividad motriz, y en particular mediante el juego, serán fundamentales para el crecimiento emocional. A la intervención desde la motricidad en la etapa de infantil le corresponde la tarea de dar respuestas a cuestiones planteadas u otras, como el excesivo sedentarismo de la infancia o la obesidad infantil. En este sentido, en el presente artículo nos ocuparemos de justificar la necesaria presencia de la motricidad en fu forma sistemática -la educación física- en la educación infantil, y presentar un proyecto de mediación en la praxis en esta etapa educativa, lúdico, alegre, gozoso, atractivo y encantador para los niños. Recogemos conceptos y supuestos en torno al desarrollo psicomotor, los contenidos motrices en la etapa de educación infantil, la expresión corporal, el juego motor y el planteamiento metodológico y programador de la motricidad en esta etapa educativa.O descobrimento progressivo do próprio corpo como fonte de sensações, a exploração das possibilidades de ação e das funções corporais são experiências forçosas que permitem elaborar pensamento infantil. Asi mesmo, as relações afetivas estabelecidas em situações de atividade motriz, sobretudo do jogo, são básicas para o crescimento emocional. À motricidade no estágio infantil é responsável de dar respostas a perguntas propostas ou temas como o sedentarismo ou a obesidade infantil. Neste sentido, justificaremos a exigência e necessária da motricidade em sua forma sistemática (a educação física na educação infantil e apresentaremos um projeto lúdico, alegre, prazenteiro, atraente e encantador para os meninos, que sirva de media

Programa de prevención del sobrepeso y obesidad infantil en centros educativos de Navarra

OpenAIRE

Oses Recalde, Maddi

2017-01-01

El objetivo general de este TFM es disminuir la prevalencia de sobrepeso y obesidad infantil en navarra. Todo ello para mejorar la salud en la población infantil y consecuentemente mejorar la salud en su edad adulta. Para ello se identifican los siguientes objetivos específicos: 1) Mejorar los hábitos alimentarios de los participantes del proyecto. 2) Aumentar la actividad física de los participantes. 3) Disminuir el sobrepeso y la obesidad de los participantes del programa. Para la ...

Validade de Criterio do Inventario de Potencial para Abuso Infantil (CAP

Directory of Open Access Journals (Sweden)

Ana Carolina de Almeida Patrian

2013-04-01

Full Text Available É grande o interesse pelo tema da violência contra a criança, porém são escassas suas formas de avaliação, dificultando o desenvolvimento de intervenções. O Inventário de Potencial de Abuso Infantil (CAP é considerado eficaz na identificação precoce de pais considerados em risco de agredirem fisicamente seus filhos e uma boa ferramenta para avaliar intervenções na área dos maus-tratos contra crianças e adolescentes. O presente estudo objetivou realizar a validade de critério do Inventário CAP, por meio da comparação de seus resultados entre cuidadores considerados de alto risco para abuso infantil e cuidadores de baixo risco para o abuso infantil. Dois grupos de pais foram participantes, sendo um grupo composto por 20 pais denunciados por agressões físicas e o outro grupo de 20 pais não agressores de igual nível socioeconômico e educacional. Os resultados indicaram que o inventário é capaz de avaliar as diferenças entre os grupos propostos, demonstrando ser um bom instrumento para o trabalho de serviços de proteção à criança epara a avaliação de intervenções e políticas públicas ou pesquisas.

Biografías narrativas de docentes: experiencias de adversidad educativa, significados y capacidades. Caso: Docentes en formación práctica: Centros Infantiles del Buen Vivir. Tecnología en Desarrollo Infantil Integral

OpenAIRE

Zambrano Echanique, Erika Matilde

2016-01-01

La investigación responde a la necesidad de conocer la realidad de los docentes en contextos de adversidad, específicamente describir las experiencias, significados y capacidades de los Tecnólogos en Desarrollo Infantil Integral, quienes trabajan en los Centros Infantiles del Buen Vivir (CIBV) ubicados en sectores de atención prioritaria en el Ecuador. Para este estudio cualitativo, se seleccionó a cinco docentes en formación, mediante la técnica de muestreo en bola de nieve, se utilizó el mé...

A case of infantile osteopetrosis: The radioclinical features with literature update

Directory of Open Access Journals (Sweden)

Tamer Ahmed EL-Sobky

2016-06-01

Conclusion: Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

La explotación sexual comercial infantil: una ganancia subjetiva

Directory of Open Access Journals (Sweden)

Leidy Bibiana Camacho Ordóñez

2009-01-01

Full Text Available La explotación sexual comercial infantil (Esci es un problema que crece día a día en nuestro país, y afecta considerablemente el desarrollo físico y psicológico de los menores y las menores de edad involucrados en estas prácticas. El estudio realizado por el grupo de investigación Crecer del programa de psicología de la Universidad Surcolombiana de Neiva, sintetizado en este artículo, abordó esta problemática en los municipios de Neiva, Campoalegre y Pitalito, del departamento del Huila, a través de un enfoque metodológico cualitativo. El estudio permitió encontrar que para los niños, niñas y adolescentes participantes en esta investigación, la explotación sexual comercial infantil representa una ganancia subjetiva, ante una historia de carencias económicas y afectivas.

La explotación sexual comercial infantil: una ganancia subjetiva

Directory of Open Access Journals (Sweden)

Leidy Bibiana Camacho Ordóñez

2009-10-01

Full Text Available La explotación sexual comercial infantil (Esci es un problema que crece día a día en nuestro país, y afecta considerablemente el desarrollo físico y psicológico de los menores y las menores de edad involucrados en estas prácticas. El estudio realizado por el grupo de investigación Crecer del programa de psicología de la Universidad Surcolombiana de Neiva, sintetizado en este artículo, abordó esta problemática en los municipios de Neiva, Campoalegre y Pitalito, del departamento del Huila, a través de un enfoque metodológico cualitativo. El estudio permitió encontrar que para los niños, niñas y adolescentes participantes en esta investigación, la explotación sexual comercial infantil representa una ganancia subjetiva, ante una historia de carencias económicas y afectivas.

Mortalidad infantil en el Hospital Docente Ginecoobstétrico de Guanabacoa (1998-2010 Infant mortality in the Guanabacoa Gynecology-Obstetric Teaching Hospital (1998-2010

Directory of Open Access Journals (Sweden)

Vivian Asunción Álvarez Ponce

2011-12-01

Full Text Available Introducción: La mortalidad infantil constituye un importante indicador que se utiliza para medir el estado de salud de la población. Entre sus componentes, la defunción neonatal precoz representa un reto para el ginecoobstetra, ya que su disminución está fundamentalmente relacionada con el seguimiento obstétrico durante el embarazo y el periodo del parto. Objetivo: Determinar el comportamiento de la tasa de mortalidad infantil, en el Hospital Docente Ginecoobstétrico de Guanabacoa, en el periodo comprendido entre el 1 de enero de 1998 y el 31 de diciembre del 2010. Métodos: Se realizó un estudio descriptivo, transversal y retrospectivo de todas las defunciones infantiles que ocurrieron en la institución. El universo de estudio estuvo conformado por las 74 defunciones infantiles de un total de 23 533 nacidos vivos. La información fue obtenida a partir del Comité de Mortalidad y de los registros del Departamento de Estadística de la Institución. Resultados: Se encontró que la tasa de mortalidad infantil durante esos 13 años fue de 3,9 x 1000 nacidos vivos, con tendencia al decrecimiento a partir de 2004. Las principales causas de muerte fueron infecciones, asfixia y malformaciones. Aunque predominó también el componente neonatal precoz, de 2,7 x 1000 nacidos vivos, este mostró una disminución en el periodo estudiado. Asimismo, vale señalar que desde el año 2008 no ha habido muertes neonatales tardías. Conclusiones: La tasa de mortalidad infantil del decenio fue 3,9 x 1000 nacidos vivos, con tendencia a la disminución del componente neonatal precoz. La sepsis constituyó el principal problema para la institución.Introduction: Infant mortality is an important indicator used to measure the population health status. Among its components, the early neonatal death is a challenge for the gynecology-obstetric specialist since its decrease is mainly related to the obstetric follow-up over pregnancy and delivery period. Objective

Distrofia neuroaxonal infantil: diagnóstico em vida por biopsia conjuntival

Directory of Open Access Journals (Sweden)

S. Rosemberg

1985-03-01

Full Text Available São relatados três casos de distrofia neuroaxonal infantil cujo diagnóstico foi feito mediante o estudo ultrastrutural de biópsia da conjuntiva. Nesta, algumas fibras nervosas amielínicas e, mais raramente, as mielínicas, mostravam, no axoplasma, agregados densos membrano-tubulares, idênticos aos dos esferóides ocorrentes no SNC nesta doença. O achado destas estruturas é o único meio diagnóstico em vida. A biópsia da conjuntiva, pela facilidade de sua execução e por sua inocuidade, é o procedimento preferido para este estudo. Clinicamente, a enorme hipotonia aliada a sinais piramidais, a ausência de crises convulsivas, a atrofia cerebelar visível à tomografia e o modo evolutivo, sugerem fortemente o diagnóstico de distrofia neuroaxonal infantil.

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Science.gov (United States)

Lev, Dorit; Michelson-Kerman, Marina; Vinkler, Chana; Blumkin, Lubov; Shalev, Stavit A; Lerman-Sagie, Tally

2008-03-01

Despite major recent advances in our understanding of developmental cerebellar disorders, classification and delineation of these disorders remains difficult. The term pontocerebellar hypoplasia is used when there is a structural defect, originating in utero of both pons and cerebellar hemispheres. The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, congenital contractures, microcephaly, polyhydramnion and respiratory insufficiency leading to early death. However, anterior horn cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of anterior horn cell degeneration and cerebellar atrophy without pontine involvement. We describe two siblings from a consanguineous Moslem Arabic family who presented with progressive degeneration of both the cerebellum and the anterior horn cells. The patients presented after 1 year of age with a slow neurodegenerative course that included both cognitive and motor functions. There is considerable phenotypic variability; the sister shows a much milder course. Both children are still alive at 6 and 9 years. The sister could still crawl and speak two word sentences at the age of 3 years while the brother was bedridden and only uttered guttural sounds at the same age. Our cases further extend the phenotype of the cerebellar syndromes with anterior horn cell involvement to include a childhood onset and protracted course and further prove that this neurodegenerative disorder may start in utero or later in life.

El maltrato infantil: un problema mundial

Directory of Open Access Journals (Sweden)

SANTANA-TAVIRA ROSALINDA

1998-01-01

Full Text Available Al abordar el maltrato infantil se presentan diversos problemas: desconocimiento de la verdadera proporción de dicha problemática; raíces culturales e históricas profundas; diversidad de opiniones en cuanto a su definición y clasificación; dificultades en la investigación y, finalmente, una diversidad de consideraciones sobre sus repercusiones y su manejo terapéutico. En el presente artículo se estudia el maltrato infantil desde sus antecedentes históricos, así como sus clasificaciones, sus definiciones y su epidemiología. Asimismo, se revisan las repercusiones y se plantean las alternativas de tratamiento que en la bibliografía existente se han manejado como fundamentales para enfrentar este fenómeno cada vez más alarmante. Queda subrayada la necesidad de unificar criterios en cuanto a la definición y clasificación de información científica en torno a datos demográficos que, finalmente, hablarán de la realidad del problema, de los avances relacionados con sus causas, su diagnóstico, sus medidas preventivas y su tratamiento. Es fundamental utilizar medidas tendientes a prevenir el maltrato, pues una gran parte de los problemas en el niño se ven reflejados en la vida adulta. Se comparan las distintas clasificaciones en torno al tema, así como las características tanto del agredido como del agresor en los distintos tipos de maltrato.

Cellulase variants

Science.gov (United States)

Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

2015-07-14

This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

Infantile parkinsonism-dystonia: a dopamine “transportopathy”

OpenAIRE

Blackstone, Craig

2009-01-01

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by lo...

La red sobre trabajo infantil peligroso (Red Tip The hazardous child labor network (Red Tip

Directory of Open Access Journals (Sweden)

Walter Varillas

2003-01-01

Full Text Available En el mundo, aproximadamente 351.7 millones de niños entre 5 y 17 años realizaban algún tipo de actividad económica, de ellos 170.5 millones (48.5% realizaban algún tipo de trabajo considerado peligroso. Un alto porcentaje se encuentra en la agricultura, otros en minas, manufacturas, ladrilleras, predominantemente en la economía informal. El Convenio 138 (cobre la edad mínima de admisión en el empleo de la OIT y el Convenio 182 (sobre las peores formas de trabajo infantil, definen como trabajo infantil peligroso el que puede afectar la salud, seguridad y moralidad de los menores. Estudios específicos sobre los menores muestran su susceptibilidad particular frente a los riesgos laborales, aumentando la peligrosidad para su normal desarrollo y crecimiento: "los niños no son adultos pequeños". Los profesionales de la seguridad y salud en el trabajo pueden colaborar con los profesionales y las organizaciones especializadas en el trabajo infantil, en la definición y caracterización de lo que significa el trabajo infantil peligroso. Para ello se ha conformado la Red sobre Trabajo Infantil Peligroso (Red TIP, con la finalidad de articular estos dos espacios, orientados a eliminar el trabajo infantil peligroso y rescatar al menor y devolverle la oportunidad de sonreír ahora y en el futuro.In the world, approximately 351.7 millions children between 5 and 17 years old work. Of them, 170,5 millions (48.5% work at the hazardous child labor forms. A high percentage is in agriculture, others in mines, manufactures, brick makers, predominantly in informal economy. The 138 Convention of ILO and the 182 Convention, define as hazardous child labor activities that can affect the health, safety and morality of the children. Studies on the children at work point out their particular susceptibility to some occupational risks, increasing the danger for their normal development and growth. "They are not little adults". The occupational health

Epilepsia infantil : descripción clínica, evaluación neuropsicológica y tratamiento

OpenAIRE

Andrés Regalado, Alberto

2015-01-01

La epilepsia infantil es una condición de salud crónica que afecta a la calidad de vida por múltiples variables como son la frecuencia de las crisis, los fármacos antiepilépticos la frecuencia de las crisis y el tiempo de transcurso de las mismas, la intervención en los periodos infantiles mejoraría la evaluación del sujeto facilitando su adaptación a la vida normal

Miastenia gravis infantil: relato de caso diagnosticado clinicamente

Directory of Open Access Journals (Sweden)

J. Rodrigo Lopes

1985-09-01

Full Text Available Registro de caso de miastenia infantil (forma congênita, em criança com 16 meses de idade. Ênfase ao diagnóstico diferencial das várias formas de miastenia na infância é dada durante a discussão do caso. O diagnóstico baseou-se na resposta imediata a teste com Neostigmina, seguido de terapêutica satisfatória com Mestinon.

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

Science.gov (United States)

El-Hattab, Ayman W; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J; Afqi, Manal; Saleh, Mohammed A M; Faqeih, Eissa A; Alzaidan, Hamad I; Alshenqiti, Abduljabbar; Flore, Leigh Anne; Hertecant, Jozef; Sacharow, Stephanie; Barbouth, Deborah S; Murayama, Kei; Shah, Amit A; Lin, Henry C; Wong, Lee-Jun C

2018-04-01

Mitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantile-onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17-related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with nine novel MPV17 pathogenic variants. We summarize the clinical features of all 100 affected individuals and review the total 48 MPV17 pathogenic variants. The vast majority of affected individuals presented with an early-onset encephalohepatopathic disease characterized by hepatic and neurological manifestations, failure to thrive, lactic acidemia, and mtDNA depletion detected mainly in liver tissue. Rarely, MPV17 deficiency can cause a late-onset neuromyopathic disease characterized by myopathy and peripheral neuropathy with no or minimal liver involvement. Approximately half of the MPV17 pathogenic variants are missense. A genotype with biallelic missense variants, in particular homozygous p.R50Q, p.P98L, and p.R41Q, can carry a relatively better prognosis. © 2017 Wiley Periodicals, Inc.

Clinical findings versus imaging studies in the diagnosis of infantile ...

African Journals Online (AJOL)

Background: Infantile hypertrophic pyloric stenosis is the most common surgical cause of vomiting in early infancy and can be diagnosed clinically or by imaging studies. Objectives: The aim of this study was to assess the accuracy of clinical examination compared with ultrasound and upper gastrointestinal contrast imaging ...

AVALIAÇÃO DA AUTOEFICÁCIA MATERNA PARA A PREVENÇÃO DA DIARREIA INFANTIL

OpenAIRE

Taís Capistrano Lopes; Anne Fayma Lopes Chaves; Emanuella Silva Joventino; Rebeca Silveira Rocha; Ana Rita Pimentel Castelo; Mônica Oliveira Batista Oriá

2013-01-01

El objetivo fue evaluar la autoeficacia para prevenir la diarrea infantil entre madres de niños de Quixadá-Ceará, Brasil. Estudio descriptivo, cuantitativo, en tres Unidades Básicas de Salud de Quixadá-CE, de marzo a mayo de 2012. Se entrevistaron 150 madres de niños menores de cinco años, mediante formulario sociodemográfico y Escala de Autoeficacia Materna para Prevención de la Diarrea Infantil. 51,3% de los niños tuvieron diarrea, 89% de las madres presentaron niveles menores de autoeficac...

Programa de prevención y de erradicación del trabajo infantil y adolescente

OpenAIRE

Montesinos Arruti, María Natalia

2015-01-01

El trabajo infantil, una problemática social compleja, es toda actividad económica, remunerada o no, realizada por niños y por niñas por debajo de la edad mínima de admisión al empleo o al trabajo, independientemente de su categoría ocupacional. Existen factores que ayudan a producirlo, como el desempleo, los bajos salarios, la distribución inequitativa de la riqueza, el trabajo no registrado y la legitimación de prácticas tradicionales del trabajo infantil. En la actualidad hay, ap...

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

International Nuclear Information System (INIS)

Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

2016-01-01

Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease

Incidencia de los hábitos educativos en el aprendizaje del alumnado de educación infantil

Directory of Open Access Journals (Sweden)

María MARTÍNEZ REDONDO

2014-10-01

Full Text Available La etapa de Educación Infantil es fundamental para el posterior desarrollo del alumnado. Se debe garantizar un entorno de aprendizaje basado en actividades lúdicas y significativas que permita a los niños y niñas crecer en unas condiciones apropiadas para el desarrollo de hábitos educativos que figuran en el currículum de Educación Infantil. El profesorado debe dirigir su metodología a la consolidación y afianzamiento de hábitos educativos tales como deportivos y tecnológicos, de lectura y escritura, morales y conductuales, ambientales, de higiene y autonomía personal. En este artículo, presentamos los resultados de un trabajo de investigación en el que se recogen, a través de una metodología cuantitativa, las opiniones del profesorado de Educación Infantil de la zona de Sierra de Segura, El Condado y Las Villas, cuya cabecera de comarca es Úbeda, provincia de Jaén, respecto a qué tipología de hábitos educativos es más recomendable aplicar en la práctica educativa según las directrices que nos brinda el currículum de Educación Infantil. Los resultados evidencian, según las opiniones mostradas por el profesorado de Educación Infantil, la incipiente necesidad de basar la práctica docente en la trasmisión y desarrollo de hábitos educativos en el alumnado de tres a seis años, generando nuevos planteamientos, conocimientos, habilidades y actitudes imprescindibles para la futura formación del alumnado.

LA RELACIÓN INFANCIA Y MOVIMIENTO EN LIBROS DE TEXTO DEL SEGUNDO CICLO DE EDUCACIÓN INFANTIL

Directory of Open Access Journals (Sweden)

Vladimir Martínez Bello

2014-01-01

Full Text Available Este artículo presenta un estudio que analiza libros de texto españoles, de educación infantil del segundo ciclo, con el objetivo de determinar la relación entre infancia y movimiento, en sus imágenes. Se estudiaron las imágenes a través de un análisis de contenido siguiendo un sistema de dimensiones, categorías e indicadores previamente establecido. En el proceso de análisis se contó con la participación de un grupo observacional independiente, ubicado en territorio español. Los resultados señalan que las imágenes analizadas representan principalmente un cuerpo infantil único, tanto a nivel de representación racial como de diversidad corporal. Además, las imágenes visibilizan igualdad de niños y niñas; se relaciona el proceso de construcción corporal en contacto con espacios al aire libre y naturales, y el cuerpo infantil puede asumir distintos niveles de actividad motriz, pero con mayor tendencia hacia cuerpos en posición estática. La presente investigación indica que las imágenes analizadas, a pesar de garantizar la visibilidad en términos de igualdad de género, muestran cuerpos infantiles únicos, tanto a nivel de ausencia de discapacidad física, mental o sensorial, como de representación racial. El sistema educativo infantil debe incorporar la reflexión crítica sobre la diversidad corporal, con el objetivo de construir opciones a esas representaciones dominantes que pueden afectar a las personas más pequeñas.

Nascidos para comprar: notas sobre o consumismo infantil

Directory of Open Access Journals (Sweden)

Ana Augusta Ferreira de Freitas

2015-10-01

Full Text Available http://dx.doi.org/10.5007/1980-4512.2015n31p210 O objetivo desse trabalho é analisar os fatores que levam o público infantil a buscar, precocemente, serviços estéticos oferecidos em salões de beleza. Uma pesquisa de campo foi conduzida junto a seis díades de mães com suas respectivas filhas. Como estratégia de pesquisa, uma narrativa ficcional foi conduzida com as crianças; enquanto entrevistas foram usadas com as mães. Como resultado, observou-se que vários estímulos levam as crianças a consumirem serviços estéticos. Entre estes, a referência materna, as influências de familiares, amigos da escola e da mídia, através da televisão e internet. De forma secundária, foi registrado que os serviços mais desejados e consumidos pelo público infantil foram os de manicure e cabelereiro. Em termos de papeis, as mães adquirem o serviço, e dividem com suas filhas o papel de decisão, ao determinarem, juntas, como o consumo acontecerá.

CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.

Science.gov (United States)

Miron, Justin; Picard, Cynthia; Nilsson, Nathalie; Frappier, Josée; Dea, Doris; Théroux, Louise; Poirier, Judes

2018-06-01

Because currently known Alzheimer's disease (AD) single-nucleotide polymorphisms only account for a small fraction of the genetic variance in this disease, there is a need to identify new variants associated with AD. Our team performed a genome-wide association study in the Quebec Founder Population isolate to identify novel protective or risk genetic factors for late-onset sporadic AD and examined the impact of these variants on gene expression and AD pathology. The rs10984186 variant is associated with an increased risk of developing AD and with a higher CDK5RAP2 mRNA prevalence in the hippocampus. On the other hand, the rs4837766 variant, which is among the best cis-expression quantitative trait loci in the CDK5RAP2 gene, is associated with lower mild cognitive impairment/AD risk and conversion rate. The rs10984186 risk and rs4837766 protective polymorphic variants of the CDK5RAP2 gene might act as potent genetic modifiers for AD risk and/or conversion by modulating the expression of this gene. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

Mortalidad infantil por malformaciones congénitas en Argentina: análisis del quinquenio 2002-2006

OpenAIRE

Bronberg, Rubén; Alfaro, Emma; Chaves, Estela; Dipierri, José

2009-01-01

Objetivo. Analizar la distribución espacial y temporal de la mortalidad infantil por malformaciones congénitas en la Argentina entre 2002-2006. Materiales y métodos. Los datos provinieron del Ministerio de Salud. Las malformaciones congénitas se clasificaron según la Clasificación Internacional de Enfermedades, décima revisión. Se calcularon por departamentos, provincias y regiones, componentes de la mortalidad infantil (neonatal precoz y tardía y postneonatal), subconjuntos de malformaciones...

Propuesta educativa de la aplicación del trabajo por proyectos en Educación Infantil

OpenAIRE

Pozo López, Sara del

2015-01-01

En el presente documento se expone una propuesta educativa enfocada al segundo ciclo de Educación Infantil, cuyo objetivo principal es abordar un Aprendizaje Basado en Proyectos con una metodología interdisciplinar, transversal, activa y participativa a través de la cual los educandos consigan una calidad educativa partiendo de sus necesidades con el fin de crear personas críticas, creativas y con un anhelo intrínseco de aprender. Grado en Educación Infantil

Injury Patterns among Individuals Diagnosed with Infantile Autism during Childhood

DEFF Research Database (Denmark)

Mouridsen, Svend-Erik; Rich, Bente; Isager, Torben

2016-01-01

Background: To date, injury risk among people with infantile autism (IA) has been a relatively poorly researched issue.Objective:The purpose of our study was to compare the prevalence and types of injuries in a clinical sample of 118 patients diagnosed with IA during childhood with those of 336 age...

Structural consequences of amino acid substitutions causing Tay-Sachs disease.

Science.gov (United States)

Ohno, Kazuki; Saito, Seiji; Sugawara, Kanako; Sakuraba, Hitoshi

2008-08-01

To determine the structural changes in the alpha-subunit of beta-hexosaminidase due to amino acid substitutions causing Tay-Sachs disease, we built structural models of mutant alpha-subunits resulting from 33 missense mutations (24 infantile and 9 late-onset), and analyzed the influence of each amino acid replacement on the structure by calculating the number of atoms affected and determining the solvent-accessible surface area of the corresponding amino acid residue in the wild-type alpha-subunit. In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was generally larger than that in the late-onset Tay-Sachs group in both the main chain and the side chain, and residues associated with the mutations found in the infantile Tay-Sachs group tended to be less solvent-accessible than those in the late-onset Tay-Sachs group. Furthermore, color imaging determined the distribution and degree of the structural changes caused by representative amino acid substitutions, and that there were also differences between the infantile and late-onset Tay-Sachs disease groups. Structural study is useful for elucidating the basis of Tay-Sachs disease.

Osteomyelitis of the maxilla in a patient with Malignant Infantile Osteopetrosis

Directory of Open Access Journals (Sweden)

Artur Aburad de Carvalhosa

2016-04-01

Full Text Available Osteopetrosis is characterized by a considerable increase in bone density resulting in defective remodeling, caused by failure in the normal function of osteoclasts, and varies in severity. It is usually subdivided into three types: benign autosomal dominant osteopetrosis; intermediate autosomal recessive osteopetrosis; and malignant autosomal recessive infantile osteopetrosis, considered the most serious type. The authors describe a case of chronic osteomyelitis in the maxilla of a 6-year-old patient with Malignant Infantile Osteopetrosis. The treatment plan included pre-maxilla sequestrectomy and extraction of erupted upper teeth. No surgical procedure was shown to be the best to prevent the progression of oral infection. Taking into account the patient's general condition, if the patient develops severe symptomatic and refractory osteomyelitis surgery should be considered. The patient and his family are aware of the risks and benefits of surgery and its possible complications.

Formación en valores y cuentos tradicionales en la etapa de educación infantil

Directory of Open Access Journals (Sweden)

Verónica Marín-Díaz

2015-01-01

Full Text Available Los valores son hoy un elemento de la formación, siendo pieza clave enla Educación Infantil. Junto a estos encontramos la metodología de los cuentos tradicionales comoforma de enseñanza-aprendizaje. En el presente artículo exponemos los primeros resultados de unestudio no experimental, llevado a cabo con el objetivo general de conocer cuáles son los valoresque el profesorado cree que transmiten los cuentos infantiles. El principal resultado obtenido es quelos cuentos tradicionales transmiten diferentes valores en función de la etapa educativa en que seempleen y de la experiencia profesional de los sujetos docentes. Concluimos que la educación envalores a través de los cuentos tradicionales en la etapa de Educación Infantil, es una metodologíaválida para la socialización de los niños y las niñas.

Formación en valores y cuentos tradicionales en la etapa de educación infantil

Directory of Open Access Journals (Sweden)

Verónica Marín-Díaz, España

2015-07-01

Full Text Available (analítico: Los valores son hoy un elemento de la formación, siendo pieza clave en la Educación Infantil. Junto a estos encontramos la metodología de los cuentos tradicionales como forma de enseñanza-aprendizaje. En el presente artículo exponemos los primeros resultados de un estudio no experimental, llevado a cabo con el objetivo general de conocer cuáles son los valores que el profesorado cree que transmiten los cuentos infantiles. El principal resultado obtenido es que los cuentos tradicionales transmiten diferentes valores en función de la etapa educativa en que se empleen y de la experiencia profesional de los sujetos docentes. Concluimos que la educación en valores a través de los cuentos tradicionales en la etapa de Educación Infantil, es una metodología válida para la socialización de los niños y las niñas.

Suppression of metabolic activity caused by infantile strabismus and strabismic amblyopia in striate visual cortex of macaque monkeys.

Science.gov (United States)

Wong, Agnes M F; Burkhalter, Andreas; Tychsen, Lawrence

2005-02-01

Suppression is a major sensorial abnormality in humans and monkeys with infantile strabismus. We previously reported evidence of metabolic suppression in the visual cortex of strabismic macaques, using the mitochondrial enzyme cytochrome oxidase as an anatomic label. The purpose of this study was to further elucidate alterations in cortical metabolic activity, with or without amblyopia. Six macaque monkeys were used in the experiments (four strabismic and two control). Three of the strabismic monkeys had naturally occurring, infantile strabismus (two esotropic, one exotropic). The fourth strabismic monkey had infantile microesotropia induced by alternating monocular occlusion in the first months of life. Ocular motor behaviors and visual acuity were tested after infancy in each animal, and development of stereopsis was recorded during infancy in one strabismic and one control monkey. Ocular dominance columns (ODCs) of the striate visual cortex (area V1) were labeled using cytochrome oxidase (CO) histochemistry alone, or CO in conjunction with an anterograde tracer ([H 3 ]proline or WGA-HRP) injected into one eye. Each of the strabismic monkeys showed inequalities of metabolic activity in ODCs of opposite ocularity, visible as rows of lighter CO staining, corresponding to ODCs of lower metabolic activity, alternating with rows of darker CO staining, corresponding to ODCs of higher metabolic activity. In monkeys who had infantile strabismus and unilateral amblyopia, lower metabolic activity was found in (suppressed) ODCs driven by the nondominant eye in each hemisphere. In monkeys who had infantile esotropia and alternating fixation (no amblyopia), metabolic activity was lower in ODCs driven by the ipsilateral eye in each hemisphere. The suppression included a monocular core zone at the center of ODCs and binocular border zones at the boundaries of ODCs. This suppression was not evident in the monocular lamina of the LGN, indicating an intracortical rather than

Educação infantil: a criança em foco

Directory of Open Access Journals (Sweden)

Marcilene do Nascimento Silva

2011-12-01

Full Text Available O Ministério da Educação e do Desporto por meio de um texto chamado “Critérios para um Atendimento em Creches que Respeite os Direitos Fundamentais das Crianças” diz que toda criança tem direito a brincadeira, a atenção individual, a um ambiente aconchegante, seguro e estimulante, direito a higiene e à saúde, alimentação sadia, desenvolver sua curiosidade, imaginação e capacidade de expressão, entre outros, direitos estes que são necessários para que a criança se desenvolva em sua plenitude e possa ter uma infância saudável, feliz e infância esta ao qual ela tem todo o direito. O estágio aconteceu na Creche Municipal de Educação Infantil Pequeno Príncipe, que conta com aproximadamente 150 crianças, o inicio de atendimento da creche são das 07h00min da manhã as 05h00min horas da tarde. Este pressente relatório tem o objetivo de discorrer a respeito da realidade educacional na creche, de que forma ela acontece, se é significativa para as crianças, como se dá o processo de ensino-aprendizagem.Palavras-chave: educação; educação infantil; estágio; Creche Municipal de Educação Infantil Pequeno Príncipe.

Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report

Directory of Open Access Journals (Sweden)

Zhang B

2016-03-01

Full Text Available Bin Zhang,1,2,* Yuying Zhao,1,3,* Junling Liu,1,4 Ling Li,1 Jingli Shan,1 Dandan Zhao,1 Chuanzhu Yan1,3 1Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 2Department of Neurology, Liaocheng People’s Hospital, Liaocheng, Shandong, 3Department of Neurology, Qilu Hospital of Shandong University, Key Laboratory for Experimental Teratology of the Ministry of Education, Brain Science Research Institute, Shandong University, Jinan, Shandong, 4Department of Neurology, Affiliated Hospital of Weifang Medical University, Weifang, Shandong, People’s Republic of China *These authors contributed equally to this work Abstract: Pompe disease is a rare autosomal recessive hereditary disease caused by genetic defects of acid maltase. This disease could be divided into two forms: infantile and late-onset, which mainly affect cardiac, respiratory, and skeletal muscle systems. Late-onset patients mainly show symptoms of skeletal muscle involvement, but recent reports have found that the central nervous system was also affected in some patients. Herein, we report a case of a female, adolescent-onset Pompe patient, who was diagnosed with complicated intracranial aneurysm in adulthood. Keywords: Pompe disease, glycogen storage disease II, acid maltase, acid alpha-glucosidase, cerebrovascular disorders

Somatic cancer variant curation and harmonization through consensus minimum variant level data

Directory of Open Access Journals (Sweden)

Deborah I. Ritter

2016-11-01

Full Text Available Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG of the Clinical Genome Resource (ClinGen, in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD. MVLD is a framework of standardized data elements to curate cancer variants for clinical utility. With implementation of MVLD standards, and in a working partnership with ClinVar, we aim to streamline the somatic variant curation efforts in the community and reduce redundancy and time burden for the interpretation of cancer variants in clinical practice. Methods We developed MVLD through a consensus approach by i reviewing clinical actionability interpretations from institutions participating in the WG, ii conducting extensive literature search of clinical somatic interpretation schemas, and iii survey of cancer variant web portals. A forthcoming guideline on cancer variant interpretation, from the Association of Molecular Pathology (AMP, can be incorporated into MVLD. Results Along with harmonizing standardized terminology for allele interpretive and descriptive fields that are collected by many databases, the MVLD includes unique fields for cancer variants such as Biomarker Class, Therapeutic Context and Effect. In addition, MVLD includes recommendations for controlled semantics and ontologies. The Somatic WG is collaborating with ClinVar to evaluate MVLD use for somatic variant submissions. ClinVar is an open and centralized repository where sequencing laboratories can report summary-level variant data with clinical significance, and ClinVar accepts cancer variant data. Conclusions We expect the use of the MVLD to streamline clinical interpretation of cancer variants, enhance interoperability among multiple redundant curation efforts, and increase submission of

Cifras del retroceso: el deterioro relativo de la tasa de mortalidad infantil de Argentina en la segunda mitad del siglo XX

Directory of Open Access Journals (Sweden)

José Carlos Escudero

2006-01-01

Full Text Available Se compara la evolución histórica de la tasa de mortalidad infantil de Argentina con la de otros países americanos en la segunda mitad del siglo XX. También se compara la evolución histórica de la tasa de mortalidad infantil de la Ciudad Autónoma de Buenos Aires y la del Gran Buenos Aires con la de otras ciudades de América y del mundo. Esto muestra el deterioro relativo de la posición de Argentina con respecto a su nivel de mortalidad infantil.

A self-controlled study of intralesional injection of diprospan combined with topical timolol cream for treatment of thick superficial infantile hemangiomas.

Science.gov (United States)

Xu, Peng; Yu, Qian; Huang, Huizhen; Zhang, Wenjie; Li, Wei

2018-04-30

Topical application of timolol cream is effective and convenient for treating superficial infantile hemangiomas. Intralesional injection of corticosteroids, such as diprospan, is useful for the treatment of superficia infantile hemangiomas without systemic side effects. We conducted a self-controlled study to investigate whether a combination of intralesional injection of diprospan with topical timolol 0.5% cream would be more efficient than timolol cream alone in thick superficial infantile hemangiomas. Thirty-eight patients with 39 thick superficial infantile hemangiomas were recruited. Each lesion was randomly divided into two equal parts: one part was treated with topical timolol 0.5% cream (timolol cream group), while the other part was treated with injection of diprospan combined with topical timolol 0.5% cream (combined treatment group). Infants were followed every 4 weeks to determine whether injections should be continued, and timolol cream was applied four times daily for 5 months. During 5 months of treatment, three specialist physicians were invited to evaluate the therapeutic effects. The combined treatment group showed better lesion involution than did the timolol cream group regarding lesion thickness and color of lesions. The combination of intralesional injection of diprospan with topical timolol 0.5% cream is a suitable and safe strategy for thick superficial infantile hemangiomas. © 2018 Wiley Periodicals, Inc.

Eco-reliable path finding in time-variant and stochastic networks

International Nuclear Information System (INIS)

Li, Wenjie; Yang, Lixing; Wang, Li; Zhou, Xuesong; Liu, Ronghui; Gao, Ziyou

2017-01-01

This paper addresses a route guidance problem for finding the most eco-reliable path in time-variant and stochastic networks such that travelers can arrive at the destination with the maximum on-time probability while meeting vehicle emission standards imposed by government regulators. To characterize the dynamics and randomness of transportation networks, the link travel times and emissions are assumed to be time-variant random variables correlated over the entire network. A 0–1 integer mathematical programming model is formulated to minimize the probability of late arrival by simultaneously considering the least expected emission constraint. Using the Lagrangian relaxation approach, the primal model is relaxed into a dualized model which is further decomposed into two simple sub-problems. A sub-gradient method is developed to reduce gaps between upper and lower bounds. Three sets of numerical experiments are tested to demonstrate the efficiency and performance of our proposed model and algorithm. - Highlights: • The most eco-reliable path is defined in time-variant and stochastic networks. • The model is developed with on-time arrival probability and emission constraints. • The sub-gradient and label correcting algorithm are integrated to solve the model. • Numerical experiments demonstrate the effectiveness of developed approaches.

CDKL5 variants

Science.gov (United States)

Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R.

2017-01-01

Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. Results: The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. Conclusions: These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain. PMID:29264392

La enseñanza de las ciencias sociales en la educación infantil en México: las representaciones sociales y la práctica docente de nueve estudiantes de maestra de educación infantil

Directory of Open Access Journals (Sweden)

Lorenia Hernández Cervantes

2014-03-01

Full Text Available El presente artículo describe las representaciones sobre la enseñanza de las ciencias sociales de un grupo de nueve estudiantes de maestras de educación infantil. Los resultados obtenidos se analizan a partir de las perspectivas propuestas en el estudio de Goodman & Adler (1985. De acuerdo con los resultados, el área de ciencias sociales en educación infantil es considerada por las estudiantes como "una no asignatura" y su enseñanza está basada en "estrategias para promover las relaciones humanas".

LATE RENAL GRAFT REJECTION: PATHOLOGY AND PROGNOSIS

Directory of Open Access Journals (Sweden)

E.S. Stolyarevich

2014-01-01

Full Text Available Rejection has always been one of the most important cause of late renal graft dysfunction. Aim of the study was to analyze the prevalence of different clinico-pathological variants of rejection that cause late graft dysfunction, and evaluate their impact on long-term outcome. Materials and methods. This is a retrospective study that analyzed 294 needle core biopsy specimens from 265 renal transplant recipients with late (48,8 ± 46,1 months after transplantation allograft dysfunction caused by late acute rejection (LAR, n = 193 or chronic rejection (CR, n = 78 or both (n = 23. C4d staining was performed by immunofl uorescence (IF on frozen sections using a standard protocol. Results. Peritubular capillary C4d deposition was identifi ed in 36% samples with acute rejection and in 62% cases of chronic rejection (including 67% cases of transplant glomerulopathy, and 50% – of isolated chronic vasculopathy. 5-year graft survival for LAR vs CR vs their combination was 47, 13 and 25%, respectively. The outcome of C4d– LAR was (p < 0,01 better than of C4d+ acute rejection: at 60 months graft survival for diffuse C4d+ vs C4d− was 33% vs 53%, respectively. In cases of chronic rejection C4d+ vs C4d– it was not statistically signifi cant (34% vs 36%. Conclusion. In long-term allograft biopsy C4d positivity is more haracteristic for chronic rejection than for acute rejection. Only diffuse C4d staining affects the outcome. C4d– positivity is associated with worse allograft survival in cases of late acute rejection, but not in cases of chronic rejection. 

Fatores socioeconómicos y mortalidad infantil en Ecuador, 1970-1981 Fatores socioeconômicos e mortalidade infantil no Equador, 1970-1981 Socioeconomic factors and infant mortality in Ecuador, 1970-1981

Directory of Open Access Journals (Sweden)

Guillermo González Pérez

1988-08-01

Full Text Available En Ecuador la tasa de mortalidad infantil se redujo entre 1970 y 1981 en un 35%, a pesar de lo cual su valor sigue siendo elevado en el contexto latinoamericano. A nivel provincial, el comportamiento de la tasa no ha sido homogéneo, observándose fuertes diferencias entre las entidades en cuanto a la mortalidad durante el primer año de vida. Mediante el empleo de técnicas de regresión múltiple, pretendióse identificar aquellos factores socioeconómicos que más han incidido en el descenso de la mortalidad infantil en Ecuador en el período señalado, así como las variables que más explican las diferencias interprovinciales en dicho indicador. La disminución de la natalidad y el aumento proporcional de los gastos del presupuesto destinado a salud por una parte, y la tasa de alfabetización por otra parecen ser elementos claves para una explicación económico social de los cambios recientes en la mortalidad infantil ecuatoriana.No Equador entre os anos de 1970 a 1981 a taxa de mortalidade infantil reduziu em 35%, embora seu valor continua sendo elevado em relação ao contexto latinoamericano. A nível regional, o comportamento da taxa não tem sido homogêneo, observando-se diferenças significativas nas diversas regiões quanto a taxa de mortalidade durante o primeiro ano de vida. Com o emprego da técnica de regressão múltipla, pretendeu-se identificar aqueles fatores socioeconômicos que mais têm incidido no declínio da mortalidade infantil no Equador, no período acima descrito, bem como as variáveis que melhor explicam as diferenças inter-regionais do referido indicador. A diminuição da natalidade e o aumento proporcional de recursos financeiros destinados à saúde, por um lado, e a taxa de alfabetização por outro, parecem ser elementos chaves para uma explicação econômica social das mudanças recentes na mortalidade infantil equatoriana.In Equador infant mortality has dropped by 35% between 1970 and 1981, though this

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Directory of Open Access Journals (Sweden)

Zhiyv Niu

2018-03-01

Full Text Available ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies.Patients and methodsClinical and laboratory data of three unrelated probands with predominantly distal weakness manifesting in the sixth-seventh decade of life, and available affected and unaffected family members were reviewed. Next-generation sequencing panel, whole exome sequencing, and targeted analyses of family members were performed to elucidate the genetic etiology of the myopathy.ResultsGenetic analyses detected two contributing variants located on different chromosomes in three unrelated probands: a heterozygous pathogenic mutation in SQSTM1 (c.1175C>T, p.Pro392Leu and a heterozygous variant in TIA1 (c.1070A>G, p.Asn357Ser. The affected fraternal twin of one proband also carries both variants, while the unaffected family members harbor one or none. Two unrelated probands (family 1, II.3, and family 3, II.1 have a distal myopathy with rimmed vacuoles that manifested with index extensor weakness; the other proband (family 2, I.1 has myofibrillar myopathy manifesting with hypercapnic respiratory insufficiency and distal weakness.ConclusionThe findings indicate that all the affected individuals have a myopathy associated with both variants in SQSTM1 and TIA1, respectively, suggesting that the two variants determine the phenotype and likely functionally interact. We speculate that the TIA1 variant is a modifier of the SQSTM1 mutation. We identify the combination of SQSTM1 and TIA1 variants as a novel genetic defect associated with myofibrillar myopathy and suggest to consider sequencing both genes in the molecular investigation of myopathy with rimmed vacuoles and myofibrillar myopathy

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Science.gov (United States)

Niu, Zhiyv; Pontifex, Carly Sabine; Berini, Sarah; Hamilton, Leslie E; Naddaf, Elie; Wieben, Eric; Aleff, Ross A; Martens, Kristina; Gruber, Angela; Engel, Andrew G; Pfeffer, Gerald; Milone, Margherita

2018-01-01

The aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on two different chromosomes; and to highlight the underappreciated complex forms of genetic myopathies. Clinical and laboratory data of three unrelated probands with predominantly distal weakness manifesting in the sixth-seventh decade of life, and available affected and unaffected family members were reviewed. Next-generation sequencing panel, whole exome sequencing, and targeted analyses of family members were performed to elucidate the genetic etiology of the myopathy. Genetic analyses detected two contributing variants located on different chromosomes in three unrelated probands: a heterozygous pathogenic mutation in SQSTM1 (c.1175C>T, p.Pro392Leu) and a heterozygous variant in TIA1 (c.1070A>G, p.Asn357Ser). The affected fraternal twin of one proband also carries both variants, while the unaffected family members harbor one or none. Two unrelated probands (family 1, II.3, and family 3, II.1) have a distal myopathy with rimmed vacuoles that manifested with index extensor weakness; the other proband (family 2, I.1) has myofibrillar myopathy manifesting with hypercapnic respiratory insufficiency and distal weakness. The findings indicate that all the affected individuals have a myopathy associated with both variants in SQSTM1 and TIA1 , respectively, suggesting that the two variants determine the phenotype and likely functionally interact. We speculate that the TIA1 variant is a modifier of the SQSTM1 mutation. We identify the combination of SQSTM1 and TIA1 variants as a novel genetic defect associated with myofibrillar myopathy and suggest to consider sequencing both genes in the molecular investigation of myopathy with rimmed vacuoles and myofibrillar myopathy although additional studies are needed to investigate the

Ações de enfermeiros e professores na prevenção e no combate à obesidade infantil

Directory of Open Access Journals (Sweden)

Fabiane Dias da Rosa dos Santos

2014-01-01

Full Text Available El objetivo fue conocer como enfermeros y profesores contribuyen para prevención y combate a la obesidad infantil. Estudio cualitativo, realizado en 2012, con datos recolectados por entrevistas con tres enfermeros de la Red Básica y ocho profesores de una escuela primaria de un municipio del sur del Brasil. El análisis temático indicó como factores que contribuyen a la obesidad infantil el consumo de alimentos poco saludables y la cultura alimentaria de las familias. Como acciones de prevención y combate al incentivo de la lactancia materna, el proceso educativo de la madre y la utilización de actividades lúdicas que promuevan el aprendizaje del niño sobre la obesidad. Se concluye como importantes acciones conjuntas y sistemáticas entre enfermeros y profesores para enfrentamiento de la obesidad infantil.

Obesidad infantil y consumo de bebidas azucaradas

OpenAIRE

Coronel, Julia

2011-01-01

La obesidad infantil es un importante problema de salud pública, por su prevalencia y consecuencias sobre las expectativas y la calidad de vida. La pediatría no deja de ser, en cada minuto del crecimiento de los niños, un momento para aprovechar y para poder decir qué tenemos y cómo tenemos que comer, tanto en cantidad como en calidad de nutrientes. El siguiente trabajo de investigación, realizado en la ciudad de Mar del Plata, tiene como objetivo determinar cómo incide el c...

Reflexo do consumismo infantil no ambiente escolar

OpenAIRE

Camargo, Sônia de Fátima; Vieira Júnior, Hélio

2011-01-01

Este artigo propôs verificar se há reflexos do consumismo infantil no ambiente escolar. Se á fatores que influenciam nas interações afetivas e subjetivas dos alunos das séries iniciais do Ensino Fundamental na Escola Municipal Professora Ana Cristina de sena município de Sinop – MT. O objetivo do trabalho foi investigar as relações interpessoais em sala de aula e de que forma essas relações acontecem diante do consumismo. Como fundamentação teórica, recorremos aos autores, Zygmunt Bauman, Ann...

Obesidade infantil: uma proposta de tratamento comportamental

OpenAIRE

Cruz, Maria Tereza Monteiro da

2012-01-01

O objetivo da presente pesquisa foi avaliar um programa de economia de fichas para modificar o comportamento de crianças obesas. Participaram do estudo dois jovens do sexo masculino com idades de 10 e 11 anos uma adolescente com 15 anos, todos apresentavam peso excessivo para a idade e freqüentavam uma ONG voltada para o tratamento da obesidade infantil e suas mães. A pesquisadora emprestou uma filmadora para os participantes e solicitou que P1 filmasse o almoço e o jantar cinc...

Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation

Directory of Open Access Journals (Sweden)

Ludmila Brunerova

2017-11-01

Full Text Available BackgroundHypopituitarism as a result of PROP1 (prophet of PIT1 mutation represents the most common genetic cause of combined deficiency of pituitary hormones and due to growth retardation it is typically diagnosed in childhood.Case descriptionWe present a unique case report of a prepubertal woman with growth retardation in whom combined pituitary hormone deficiency [central hypopituitarism, hypogonadism, and growth hormone (GH deficiency] caused by homozygous mutation c.150delA in the PROP1 gene was diagnosed late in young adulthood due to unfavorable life circumstances. Through cautiously combined GH therapy and sex hormone therapy, she has achieved better than expected height (exceeding predictions based on family height and sexual maturation, including regular menstrual cycles.ConclusionEarly diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation.

Estágio Supervisionado Educação Infantil III

Directory of Open Access Journals (Sweden)

Orlanda Oliveira Bueno

2011-07-01

Full Text Available ResumoEste relatório é resultado do estágio de docência em educação infantil III sob a orientação da Professora Sandra Luzia Wrobel Straub da professora. MS. Lenita Korbes do curso de pedagogia da Unemat, Campus de Sinop/MT. Foi realizado as observações nos dias 29/ 30/ 31/de Novembro de 2013 e a regência entre os dias05/11/2013 á 15/11/ 2012 dando um total de 52 horas de estágio no CMEI as restantes das horas foram na UNEMAT e as professoras deram os encaminhamentos e sanaram as dúvidas, O está localizado na Avenida, André Maggi no jardim São Paulo; nos períodos matutino e vespertino, com uma turma de creche II.  Nas datas 08/09/05/2013 retornamos a universidade onde as professoras Sandra Luzia Wrobel Straub e a prof. MS. Lenita Korbes contribuíram na elaboração do plano de aula, Com carga horária total de 76 horas. Tendo como objetivo aprimorar a prática de ensinar as crianças em sala de aula e de compreender como ocorre a ação pedagógica na Educação Infantil, com crianças deidade entre 4 e 5 anos de idade, seguindo um planejamento que cumpriu com o regimento interno da Creche e que foi elaborado de acordo com as fontes teóricas trabalhados no decorrer do curso de pedagogia, na universidade aconteceu à socialização onde trocamos as experiências obtidas durante os estágios e enceramos com uma confraternização.  Palavras-chave: ação pedagógica, teoria/prática e educação infantil.

Historia de la Educación Infantil. Introducción

Directory of Open Access Journals (Sweden)

Carmen SANCHIDRIÁN BLANCO

2010-03-01

Full Text Available RESUMEN: Una de las lagunas que presenta nuestro actual conocimiento de la Historia de la Educación en España es la referida a la educación infantil, que comprendería, en nuestro caso, la educación de los niños de cero a seis años. El primer problema que se planteó a la hora de abordar la confección de este número monográfico fue el de definir su título por los cambios de denominación y de funciones que ha sufrido a lo largo de los aproximadamente 150 años que tiene de historia, si nos limitamos, claro está, a su institucionalización. En España, hasta 1970, las expresiones empleadas en castellano para referirse a este nivel suelen incluir el término «párvulo»: maestro/a de párvulos, escuela de párvulos, etc. El término «educación preescolar» es el que ha prevalecido a lo largo de los últimos veinte años, prácticamente desde la Ley General de Educación de 1970 hasta la Ley de Ordenación General del Sistema Educativo de 1990, que emplea el término «educación infantil» para referirse a la que se ofrece a los niños de cero a seis años1. El término «educación infantil», por el que apuesta la L.O.G.S.E., intenta definir un nivel educativo con su propia entidad y caracterizado no sólo por estar «antes» de la educación escolar.

Incorrecciones del habla infantil

Directory of Open Access Journals (Sweden)

María del Pino LECUONA NARANJO

2009-11-01

Full Text Available En el presente trabajo se pretende dar una visión de algunos rasgos característicos del lenguaje infantil, centrándonos especialmente en el estudio de los niños de 4 a 6 años de edad. Es pues, su finalidad fundamental la descripción y análisis de los rasgos que se pueden observar en la expresión verbal de los preescolares. Las diversas peculiaridades que van a ser objeto de examen se refieren a la emisión de incorrecciones de carácter fonético, morfológico y semántico. El análisis unificado de estos tres factores responde a la consideración de que todos surgen como consecuencia de un proceso de simplificación lingüística originado por un estado inconcluso de desarrollo del lenguaje.

El desarrollo de la marcha infantil como proceso de aprendizaje

Directory of Open Access Journals (Sweden)

Patricia Martín Casas

2014-06-01

Full Text Available El desarrollo de la marcha infantil es un proceso especialmente complejo en que el intervienen factores motores, perceptivos y cognitivos. Desde el nacimiento, el niño integra la información recibida y realiza un progresivo control cortical sobre los patrones neuromotores innatos para desarrollar diferentes formas de locomoción hasta la marcha independiente. Estas ideas no son novedosas pero se están revisando en la actualidad y han motivado numerosos cambios en el estudio del desarrollo infantil. La consideración de la adquisición de la marcha como un aprendizaje en situaciones de constante cambio permite comprender la marcha como acción, cuya realización implica la adquisición de nuevas capacidades de interacción y conocimientos. En este trabajo se exponen los principales conocimientos acerca de este proceso de aprendizaje y se propone destacar las alteraciones de la marcha como indicadores de dificultades en el desarrollo, que requieren una valoración y un abordaje terapéutico interdisciplinares.

Algunos indicadores de calidad en la educación infantil

Directory of Open Access Journals (Sweden)

María Paz LEBRERO BAENA

2010-07-01

Full Text Available Encontrar los auténticos indicadores de la calidad en la Educación infantil es un objetivo aún no totalmente alcanzado, a pesar de la creciente cantidad de escritos en torno a ellos. Para cubrir el trecho que falta hemos considerado necesario contextualizar la opinión del profesorado sobre la calidad de la Educación infantil y las posibilidades de mejora. El trabajo que aquí presentamos es fruto de un debate con doctorandos de Pedagogía en un Programa Interuniversitario que se inició en 2004, en el que no ha faltado un exhaustivo análisis de las fuentes documentales. El instrumento que hemos aplicado para obtener los datos es un cuestionario autoadministrado que utiliza una metodología cuantitativa-cualitativa. Las diferentes opciones de las escalas Lickert nos han permitido recabar la opinión de profesorado en las distintas áreas solicitadas, mientras que el Análisis de Componentes Principales nos ha facilitado la interpretación de determinados aspectos.

Perfil de actividad durante el juego en futbolistas infantiles

Directory of Open Access Journals (Sweden)

José C. Barbero Álvarez

2007-12-01

Full Text Available En fútbol, el patrón de actividad de jugadores adultos, tanto masculinos como femeninos, ha sido ampliamente estudiado, pero son escasos los estudios que han centrado su atención en el análisis de los desplazamientos de los jugadores de categorías infantiles. Un mayor conocimiento de las demandas de este deporte en las etapas iniciales permitiría la confección de programas de entrenamiento más acordes con las características de los chicos de estas edades. El objetivo del presente estudio fue cuantificar de los desplazamientos en jugadores de fútbol de categoría infantil (12,2 ± 0,6 años; 156 ± 0,8 cm y 51 ± 5,2 kg que pertenecían a la selección de la ciudad autónoma de Melilla, mediante la aplicación de dispositivos basados en tecnología GPS. Los resultados obtenidos certifican que el fútbol infantil es una especialidad deportiva intermitente en la que se intercalan actividades de alta intensidad con situaciones del juego que permiten que el jugador recupere estando parado, andando o con una velocidad de carrera muy baja. La tasa trabajo-descanso fue de 1:3,5 y la distancia media recorrida por minuto fue aproximadamente de 100 m. Esta distancia varía disminuyendo de forma lineal conforme transcurre el partido, existiendo diferencias significativas entre el inicio y el final del juego, lo que indicaría la aparición de la fatiga. Los esfuerzos de alta intensidad que se realizan implican el 6,1% del tiempo de juego y el 16,3 % de la distancia recorrida, efectuando un sprint máximo de entre 10 y 15 m de media, cada 141 segundos. La aplicación de tareas que reproduzcan la intensidad del juego durante cortos periodos de tiempo (no superiores a 10 minutos aseguraría una elevada intensidad de trabajo durante los entrenamientos.

Infantile fibrosarcoma: Magnetic resonance imaging findings in six cases

Energy Technology Data Exchange (ETDEWEB)

Canale, Sandra [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France)], E-mail: canalesandra@yahoo.com; Vanel, Daniel [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France); Istituti Ortopedici Rizzoli, 1/10 via di Barbiano, 40136 Bologna (Italy); Couanet, Dominique [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France); Patte, Catherine [Department of Pediatrics, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France); Caramella, Caroline; Dromain, Clarisse [Department of Radiology, Institut Gustave-Roussy, 39 rue Camille Desmoulins, 94805 Villejuif (France)

2009-10-15

Purpose: To retrospectively review magnetic resonance (MR) imaging features in a series of six infantile fibrosarcomas to find out if MR can suggest this unusual diagnosis and to highlight the value of MR during and following treatment. Materials and methods: The records of six cases of histologically proven infantile fibrosarcoma were retrieved from the files of our cancer center. All imaging data available were consensually reviewed by two radiologists. Results: There were five females and one male (age range at diagnosis, 0-12 months; mean, 6 months). The most common finding was a well-circumscribed single mass in five patients (83%). All tumors had arisen on limbs; at their proximal or distal extremity or at the root of the limb. The masses were 9 cm large in mean diameter. The initial tumor signal was isointense to muscle on T1-weighted and hyperintense on T2-weighted sequences. All masses were well circumscribed and half of them contained internal fibrous septa. The internal signal was homogeneous in three patients and heterogeneous in the three others. An intense enhancement was seen in all three contrast-enhanced exams available; heterogeneous in two cases and homogeneous in one. Osseous erosion was observed in only one patient who was the only one with distant metastasis. After treatment (chemotherapy and very limited surgery), tumors had totally disappeared, leaving muscle fat infiltration in two patients and subcutaneous fat hypertrophy in one patient. Conclusion: Although imaging findings are not specific of infantile fibrosarcoma, this diagnosis could be suggested when MR imaging depicts a large well-circumscribed mass arising in a limb at birth or during the neonatal period. This mass is sometimes heterogeneous and septate and exhibits an isointense T1- and hyperintense T2-weighted signals and strong enhancement. MR is also the technique of choice for follow-up during treatment which consists nowadays almost exclusively in chemotherapy.

Neonatal and infantile erythroderma: ′The red baby′

OpenAIRE

Sarkar Rashmi

2006-01-01

Neonatal and infantile erythroderma or "the red baby" is a rare condition. It can be potentially life-threatening and requires urgent attention of the dermatologists. The causes of erythroderma in this age group are different from that in adults and distinctive, but maybe difficult to establish due to poor specificity of clinical and laboratory findings. Careful monitoring and management of the patient may improve the final outcome. In this review, the various causes of "the red baby" is disc...

VIGILÂNCIA DO CRESCIMENTO INFANTIL: CONHECIMENTO E PRÁTICAS DE ENFERMEIROS DA ATENÇÃO PRIMÁRIA À SAÚDE

Directory of Open Access Journals (Sweden)

Altamira Pereira da Silva Reichert

2012-01-01

Full Text Available El objetivo fue verificar conocimientos y prácticas de enfermeros de Estrategia Salud de la Familia acerca de la vigilancia del crecimiento de lactantes en las consultas de puericultura e informaciones maternas. Investigación cuantitativa, transversal, realizada entre mayo-junio de 2009, a través de cuestionario con enfermeros y entrevista con madres en João Pessoa, Paraíba, Brasil. Para análisis, se utilizó software EPI INFO y SPSS. Los enfermeros realizaron consulta direccionada al crecimiento y desarrollo infantil, solamente 37,8% tenían conocimiento general sobre crecimiento infantil; 64,4% cometieron errores en cuestión sobre líneas de curva del crecimiento en el cuadernillo del niño; se observó contradicción entre informaciones fornecidas por madres y enfermeros sobre orientación para desarrollo infantil. Así, hay necesidad de actualización de enfermeros acerca de contenidos relacionados a la salud del niño, para la vigilancia del crecimiento infantil de forma integral.

Impacto de la lactancia materna en la vacunación infantil

Directory of Open Access Journals (Sweden)

Deyanira La Rosa Hernández

2013-03-01

Full Text Available Dos de los factores más importantes que intervienen en la prevención de enfermedades infecciosas en el menor de un año son: la lactancia materna y la vacunación infantil. En el desarrollo de las respuestas inmunitarias inducidas por vacunas se precisa de un sistema inmunitario competente, en el que la lactancia materna juega un papel esencial como inductor de madurez inmunológica de la etapa posnatal. La lactancia materna exclusiva potencia las respuestas inmunitarias de la mayoría de los inmunógenos vacunales aplicados en los programas de inmunización infantil. Para enriquecer nuestros conocimientos sobre el efecto de la leche humana sobre la vacunación se realizó una revisión bibliográfica tras consultar las bases de datos Google, Medline y el Localizador de Información de Salud de Infomed con la utilización de descriptores como lactancia materna, vacunas, breast-feeding and vaccine.

História da literatura infantil na Madeira: reflexos de um mundo em mudança

OpenAIRE

Ramos, Dina Isabela Lemos

2011-01-01

O aumento substancial do número de livros infantis publicados na Madeira, ou produzidos por autores nativos da Ilha, mais cedo ou mais tarde, daria como resultado a escrita de um ensaio teórico acerca deste assunto. Esta é a essencial finalidade deste trabalho. Percorrendo diversas matérias em redor da Literatura Infantil pretende-se dar uma ideia da sua evolução e crescimento na Ilha. Através de uma contextualização inicial do género Literatura Infantil, fornecem-se diversos dados acerca de...

Recursos tecnológicos para el ámbito de la Música en Educación infantil

OpenAIRE

Andrés de Pablos, Elena de

2014-01-01

La importancia de los recursos tecnológicos ha aumentado en los últimos tiempos en el ámbito educativo. En este trabajo he realizado una selección de recursos musicales para la etapa de Educación Infantil para reforzar la adquisición de habilidades musicales de manera menos tradicional pero más eficaz. El objetivo es elaborar una propuesta para el uso de recursos tecnológicos como complemento a los materiales tradicionales para la educación musical en Educación Infantil Grado en Ed...

Obesidade infantil: uma reflexão sobre dinâmica familiar numa visão etnográfica

Directory of Open Access Journals (Sweden)

Márcio Flávio Moura de Araújo

2006-01-01

Full Text Available Estudo reflexivo que tem como objetivo enfocar a contribuição da Etnografia para o cuidado de Enfermagem relacionado à obesidade infantil numa dinâmica familiar inadequada. O presente artigo aborda a ascensão da obesidade no Brasil, particularmente na população infantil e tenta compreender de que maneira esta doença pode estar vinculada a características familiares como: sedentarismo, hiperfagia, desmame precoce e padrões culturais prejudiciais à saúde. A reflexão ressalta que, nessa compreensão, o enfermeiro pode utilizar a Etnografia, a fim de entender o simbolismo que exerce o alimento na família e suas repercussões na educação alimentar infantil. Conclui-se que a Etnografia aguça a percepção do enfermeiro, podendo facilitar a implantação da educação em saúde nessas famílias onde a adiposidade infantil surge devido uma conjectura propícia para a sua gênese. Dessa forma, a Enfermagem contribui para uma melhoria da qualidade de vida dos obesos e para redução da morbi-mortalidade de patologias associadas à obesidade.

Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision.

Science.gov (United States)

Huurneman, Bianca; Boonstra, F Nienke

2013-12-01

To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Interocular acuity differences and binocular summation ratios were compared between groups. Crowding ratios were calculated by dividing the single Landolt C decimal acuity with the crowded Landolt C decimal acuity mono- and binocularly. A linear regression analysis was conducted to investigate the contribution of 5 predictors to the monocular and binocular crowding ratio: nystagmus amplitude, nystagmus frequency, strabismus, astigmatism, and anisometropia. Crowding ratios were higher under mono- and binocular viewing conditions for children with infantile nystagmus syndrome than for children with normal vision. Children with albinism showed higher crowding ratios in their poorer eye and under binocular viewing conditions than children with normal vision. Children with albinism and children with infantile nystagmus syndrome showed larger interocular acuity differences than children with normal vision (0.1 logMAR in our clinical groups and 0.0 logMAR in children with normal vision). Binocular summation ratios did not differ between groups. Strabismus and nystagmus amplitude predicted the crowding ratio in the poorer eye (p = 0.015 and p = 0.005, respectively). The crowding ratio in the better eye showed a marginally significant relation with nystagmus frequency and depth of anisometropia (p = 0.082 and p = 0.070, respectively). The binocular crowding ratio was not predicted by any of the variables. Children with albinism and children with infantile nystagmus syndrome show larger interocular acuity differences than children with normal vision. Strabismus and nystagmus amplitude are significant predictors of the crowding ratio in the poorer eye.

Infantile masturbation in an African female: is this a justification for female genital cutting?

Science.gov (United States)

Otaigbe, Barbara Edewele

2008-05-01

Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for 'spiritual intervention' and prompt female genital cutting/mutilation to reduce the child's libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa. A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult's lap. Rocking was accompanied with lip smacking, eye rolling, shaking, "watching of television in the air", spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently. Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later. Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.

Infantile myofibroma of the zygomatoco-maxillo-orbital complex: Case report with spontaneous regression

Directory of Open Access Journals (Sweden)

K. Arab

2016-12-01

Conclusion: Radiologically aggressive infantile myofibroma has been previously treated by surgical intervention. In this case report there was a significant spontaneous regression. Conservative treatment and follow-up may be an appropriate alternative.

O saber e o não revelar da violência sexual doméstica infantil na dinâmica do profissional escolar

OpenAIRE

Vollet, Mayra Rocha [UNESP

2012-01-01

Pretendeu-se, com o presente estudo, refletir sobre a dinâmica da violência sexual doméstica infantil em suas diversas manifestações no contexto escolar. Buscou-se investigar, por meio de entrevistas semi estruturadas, como profissionais escolares conceituam violência sexual doméstica infantil, se e como identificam estes casos entre seus alunos e como agem diante da suspeita de violência sexual doméstica infantil. Embora a notificação desses casos seja impositiva a toda sociedade, a literatu...

Adult neuronal ceroid-lipofuscinosis.

Science.gov (United States)

Goebel, H H; Braak, H

1989-01-01

Among the different clinical forms of neuronal ceroid-lipofuscinosis (NCL), the adult type is the least frequent, most sporadic and most difficult one to diagnose. Clinical symptomatology differs from the classical childhood NCL forms in that ocular symptoms are absent while changes of behavior, dementia and seizures dominate the clinical picture. Excessive accumulation of NCL-specific lipopigments has largely been explored in the nervous system, where pigmento-architectonic investigations disclose layer-specific cortical pathology similar to but less pronounced than that of juvenile and protracted juvenile NCL. Ultrastructural analysis of lipopigments in adult NCL reveals diversity of lipopigment fine structure, but less impressive than in the childhood forms of NCL. Abnormal accretion of lipopigments outside the nervous system has rarely been demonstrated and requires ampler documentation, making in vivo diagnosis of adult NCL often difficult and sometimes equivocal. Adult NCL is now frequently considered identical to "Kufs' disease". However, in the past, the latter term has comprised a heterogeneous spectrum of lipidoses the NCL-nature of which had not been unequivocally established. Thus, one may either speak of "Kufs' syndrome" or abandon this term altogether. Although patients afflicted with adult NCL may suffer from Kufs' disease, not all who have and had Kufs disease may have or have had adult NCL. The current debate on adult NCL centers around scepticism concerning many of the earlier reports, on incorporating diagnostic studies of non-CNS organs in presumptive patients and on distinguishing adult NCL from "atypical" patients or forms of NCL, as well as other disorders marked by non-specific abnormal accumulation of lipofuscin.

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Science.gov (United States)

Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

2006-01-01

Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

Evolución de la mortalidad infantil, neonatal y postneonatal en Andalucía, 1975-1998

Directory of Open Access Journals (Sweden)

Miguel Ruiz Ramos

2003-01-01

Full Text Available Fundamento: La mortalidad infantil, y sus componentes neonatal y postneonatal, son importantes indicadores de salud, lo cual justifica su análisis periódico incluso en países desarrollados donde sus tasas han descendido considerablemente. El objetivo de este estudio es describir las modificaciones registradas en dichas tasas en Andalucía en el último cuarto de siglo. Métodos: Se han calculado las tasas anuales de mortalidad infantil, neonatal precoz y tardía, así como post-neonatal en 1975- 1998. Mediante regresión de Poisson se han estimado los porcentajes anuales de cambio de las tasas en los dos intervalos de 1975-1986 y 1987-1998 así como en el periodo completo 1975-1998. Se ha analizado también la mortalidad proporcional por causas infecciosas, respiratorias, congénitas, afecciones originadas en el periodo perinatal y el resto de causas, así como la razón de tasas de mortalidad por afecciones originadas en el periodo perinatal y para el total de causas, en el quinquenio 1994-98 respecto al quinquenio 1975-79, en los periodos infantil, neonatal (precoz y tardío y postneonatal. Resultados: Los mayores descensos porcentuales se han producido en la mortalidad neonatal precoz (6,38% y tardía (4,6%. La razón de tasas de mortalidad por afecciones originadas en el periodo perinatal entre 1994-98 y 1975-79 es 10 para la mortalidad postneonatal mientras que es inferior a 1 para la mortalidad neonatal tardía (0,63, precoz (0,33 e infantil (0,30. Conclusiones: La mortalidad en los periodos infantil, neonatal precoz, tardío y post-neonatal ha descendido acusadamente entre 1975 y 1998. El riesgo de fallecer por afecciones originadas en el periodo perinatal de los niños con más de 4 semanas y menos de 1 año de vida (periodo postneonatal se ha multiplicado por diez entre 1975-79 y 1994-98.

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

DEFF Research Database (Denmark)

Elo, Jenni M; Yadavalli, Srujana S; Euro, Liliya

2012-01-01

was impaired. Our results imply that the three FARS2 mutations directly impair aminoacylation function and stability of mtPheRS, leading to a decrease in overall tRNA charging capacity. This study establishes a new genetic cause of infantile mitochondrial Alpers encephalopathy and reports a new mitochondrial...

Continuidad tópica en las narraciones infantiles en lengua inglesa

Directory of Open Access Journals (Sweden)

José Ignacio Albentosa Hernández

2011-04-01

Full Text Available Normal 0 21 false false false ES X-NONE X-NONE MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabla normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0cm; line-height:115%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} El creciente interés por los estudios de literatura infantil en nuestro país en los últimos años es un hecho innegable que se manifiesta en los numerosos congresos, simposios y publicaciones que, sobre literatura dirigida a niños han  sucedido en los dos últimos decenios. En este estudio, hemos querido conjugar, en una primera y sencilla aproximación, el texto literario infantil y un concepto lingüístico, el tópico, que ha sido, y sigue siendo profundamente debatido a lo largo del último quindenio; todo ello tomando como base las características propias del género y registros que las narraciones infantiles.

Mortalidade infantil por causas evitáveis em uma cidade do Nordeste do Brasil

Directory of Open Access Journals (Sweden)

Suelayne Gonçalves do Nascimento

2014-04-01

Full Text Available Estudo de corte transversal que objetivou descrever a ocorrência da mortalidade infantil em Recife (PE entre 2000 e 2009, segundo causas evitáveis. A população foi composta pelos óbitos infantis de mães residentes na cidade do Recife e a classificação de evitabilidade adotou a Lista de causas de mortes evitáveis por intervenções do Sistema Único de Saúde. Para análise dos dados utilizou-se estatística descritiva. Foi observado decréscimo no coeficiente de mortalidade infantil de 20,4 para 12,1 por 1.000 nascidos vivos. Do total de 3.743 óbitos registrados, 2.861 (76,4% foram classificados como evitáveis. Destacaram-se os óbitos reduzíveis por adequada atenção à mulher na gestação. A abordagem da evitabilidade auxilia nas discussões relacionadas à organização, qualidade e acesso aos serviços de saúde, bem como na identificação dos óbitos que poderiam ter sido prevenidos ou evitados por uma adequada atenção à saúde materno-infantil.

Cuando dejan de ser bebés. Una experiencia en la casa infantil Universitaria

Directory of Open Access Journals (Sweden)

Karla Martorell Esquivel

2007-01-01

Full Text Available En el presente artículo se realiza un análisis reflexivo acerca de los procesos experimentados por los niños y las niñas entre los dos y los tres años, en relación con los cambios continuos y progresivos en las diferentes áreas del desarrollo, a saber socioafectiva, cognitivo-lingüístico y psicomotriz. Asimismo, se da a conocer la experiencia obtenida como docentes de la Casa Infantil Universitaria de la Universidad de Costa Rica en cuanto a las generalidades del desarrollo en esta edad. Las particularidades presentadas por la población infantil que asiste a la institución, así como las estrategias seguidas para su atención. Se hace referencia a la experiencia lograda durante el período del II Ciclo 2005 y el I Ciclo 2006, el cual constituyó una excelente oportunidad para favorecer el desarrollo integral de las personas de esas edades y el crecimiento profesional y personal de las maestras de la Casa Infantil Universitaria. Finalmente, se brindan algunas estrategias y consideraciones finales sobre cómo conducir y guiar a los niños y las niñas de esta edad en ambientes no escolarizados.

Concepcion del Maltrato Infantil y los Patrones de Crianza

OpenAIRE

Ruth E Caicedo-Fonseca

2007-01-01

Existen situaciones y comportamientos de la persona, familia y colectivos, que por diferentes circunstancias pueden propiciar la Violencia Intrafamiliar conllevando al Maltrato Infantil. El que se presenten estos factores predispone a la aparicion del maltrato, pero esto no significa que necesariamente el resultado de tales comportamientos desemboque en violencia contra los miembros del nucleo familiar, pero si es seguro que esas personas son mas vulnerables al problema. Cuando la persona tra...

Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy.

Science.gov (United States)

Ghosh, Arunava; Corbett, Grant T; Gonzalez, Frank J; Pahan, Kalipada

2012-11-09

The classical late infantile neuronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive disease, where the defective gene is Cln2, encoding tripeptidyl-peptidase I (TPP1). At the molecular level, LINCL is caused by accumulation of autofluorescent storage materials in neurons and other cell types. Currently, there is no established treatment for this fatal disease. This study reveals a novel use of gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, in up-regulating TPP1 in brain cells. Both gemfibrozil and fenofibrate up-regulated mRNA, protein, and enzymatic activity of TPP1 in primary mouse neurons and astrocytes as well as human astrocytes and neuronal cells. Because gemfibrozil and fenofibrate are known to activate peroxisome proliferator-activated receptor-α (PPARα), the role of PPARα in gemfibrozil- and fenofibrate-mediated up-regulation of TPP1 was investigated revealing that both drugs up-regulated TPP1 mRNA, protein, and enzymatic activity both in vitro and in vivo in wild type (WT) and PPARβ(-/-), but not PPARα(-/-), mice. In an attempt to delineate the mechanism of TPP1 up-regulation, it was found that the effects of the fibrate drugs were abrogated in the absence of retinoid X receptor-α (RXRα), a molecule known to form a heterodimer with PPARα. Accordingly, all-trans-retinoic acid, alone or together with gemfibrozil, up-regulated TPP1. Co-immunoprecipitation and ChIP studies revealed the formation of a PPARα/RXRα heterodimer and binding of the heterodimer to an RXR-binding site on the Cln2 promoter. Together, this study demonstrates a unique mechanism for the up-regulation of TPP1 by fibrate drugs via PPARα/RXRα pathway.

[Hypochondriac symptoms in late-onset depression: the relationship between hypochondria and somatic state of patients].

Science.gov (United States)

Ivanets, N N; Avdeeva, T I; Kinkul'kina, M A

2013-01-01

Authors studied 276 women with late-onset depression. Concomitant chronic somatic diseases were identified in 90%. The presence of disease and its nosological definition did not impact on the development of hypochondriac symptoms in patients with late-onset depression. Patients with hypochondriac late-onset depression more often had disability pension due to somatic disease because they more often referred to internists in case of similar objective severity of somatic pathology. It was singled out three variants of the relationship between hypochondria and somatic state: hypernosognostic (a complete coincidence of hypochondria content with actual somatic pathology; anosognostic (a lack of coincidence) and disharmonic (a partial coincidence). The themes of hypochondria in late-nset depressions were correlated with a total number of somatic diseases and their severity. At the same time, there was no correlation between the content of hypochondria and the character of somatic disease.

Valoración y prevención de la obesidad infantil en la práctica clínica y efectividad del tratamiento físico en las obesidades infantiles genéticas de mayor relevancia

OpenAIRE

Liquete Cuadrado, Eva

2016-01-01

Es de enorme estímulo y justificación analizar las complicaciones que implica la obesidad infantil en países desarrollados. Ante este acuciante problema se realiza una revisión tradicional y crítica mediante un material y métodos minucioso, con el fin de conocer la efectividad actualizada en la práctica clínica de estos estados infantiles en referencia al tratamiento fisioterapéutico, así como su valoración y prevención. En 2012, la obesidad afectaba al 10’6% de los niños en...

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Science.gov (United States)

Goina, Elisa; Peruzzo, Paolo; Bembi, Bruno; Dardis, Andrea; Buratti, Emanuele

2017-09-06

Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c.-32-13T > G mutation. Using a minigene approach and patient fibroblasts, we successfully increased inclusion of exon 2 in the mRNA and GAA enzyme production by targeting a specific silencer with a combination of AMOs. Most importantly, the use of these AMOs in patient myotubes results in a decreased accumulation of glycogen. To our knowledge, this is the only therapeutic approach resulting in a decrease of glycogen accumulation in patient tissues beside enzyme replacement therapy (ERT) and TFEB overexpression. As a result, it may represent a highly novel and promising therapeutic line for GSDII. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

Psicologia Escolar em educação infantil: reflexões de uma atuação

Directory of Open Access Journals (Sweden)

Tatiana Vokoy

Full Text Available O modelo de Educação Infantil tem sido alterado à medida que a criança passa a ser vista como sujeito de educação, com necessidade de atendimento qualificado. O trabalho do psicólogo escolar permeia questões relacionadas ao desenvolvimento integral da criança, abrangendo aspectos cognitivos, afetivos e motores. A pesquisa foi desenvolvida em uma instituição de Educação Infantil de Brasília com objetivo de conhecer a prática educativa e a atuação do psicólogo escolar. Foram realizadas entrevistas com a equipe psicopedagógica e observações de atividades da rotina escolar. Concluímos que o modelo de atuação do psicólogo deve ser fundamentado no paradigma interdisciplinar, contextual e crítico. Este estudo vislumbra novas possibilidades para repensar o processo de construção do papel do psicólogo escolar na Educação Infantil.

The Effectiveness of Contact Cryotherapy in Treatment of Infantil Hemangiomas - Original Article

Directory of Open Access Journals (Sweden)

Nazan Taşlıdere

2008-12-01

Full Text Available Objective: Hemangiomas of infancy are the most common benign tumours of childhood. Cryotherapy is a widely accepted modality for the treatment of hemangiomas of the newborn. However, no studies clearly supporting its effectivity are available. In contrast to an earlier "wait and see" approach to treating hemangiomas in young children, we sought to determine whether these vascular lesions would respond to contact cryosurgery.Methods: Nineteen patients with 25 infantil hemangiomas were included in the study between 2003-2008 years. Patients were treated with contact cryotherapy. All lesions were treated with the same method (double freeze-thaw cycle of 15 seconds.Results: In 15 lesion; 11 (%73.3 lesions healed with full regression, two (%13.3 lesions healed with partially regression, one lession showed no change and one lesion showed progression. Conclusion: Contact cryotherapy has been evaluated as an effective and safe method in infantil hemangiomas.

Mortalidade infantil em duas coortes de base populacional no Sul do Brasil: tendências e diferenciais

Directory of Open Access Journals (Sweden)

Menezes Ana M. B.

1996-01-01

Full Text Available Estudou-se a tendência temporal da mortalidade infantil através de dois estudos de coorte realizados em Pelotas, Rio Grande do Sul, em 1982 e 1993. Ambas coortes incluíram todos os nascimentos hospitalares e óbitos verificados através de visitas regulares aos hospitais, cartórios e cemitérios. As informações sobre a causa de morte foram obtidas através de entrevistas com pediatras, revisão do prontuário, necrópsias e entrevista com os pais das crianças. O coeficiente de mortalidade infantil caiu de 36,4 por mil nascidos vivos para 21,1 na década. As principais causas de mortalidade infantil em 1993 foram as perinatais, malformações congênitas, diarréia e infecções respiratórias. Crianças com baixo peso ao nascer apresentaram mortalidade 12 vezes maior do que crianças com peso adequado, e crianças pré-termo, duas vezes mais do que crianças com retardo de crescimento intra-uterino. Crianças de famílias com renda baixa (um salário mínimo apresentaram mortalidade sete vezes superior àquelas com renda alta (10 salários mínimos. A mortalidade de crianças de baixo peso ao nascer e alta renda familiar decresceu em 67%, contra apenas 36% para as de baixa renda. Conclui-se que, mesmo com uma queda expressiva da mortalidade infantil na década, persistem importantes desigualdades sociais.

Interacciones docente-estudiantes y maltrato infantil: análisis microgenético desde la perspectiva sociocultural

Directory of Open Access Journals (Sweden)

María Natalia Rodríguez García

2017-12-01

Full Text Available Esta investigación tiene como objetivo caracterizar las significaciones sobre el maltrato infantil, que emergen en el contexto de un salón de clases de primero de primaria, en un colegio público de la ciudad de Bogotá. Este estudio se sustenta en la perspectiva sociocultural. Desde un enfoque idiográfico y por medio de análisis microgenéticos, se profundizó en el estudio de caso de Martina, quien, a partir de su práctica pedagógica, proporcionó elementos para caracterizar las significaciones que ha construido sobre el maltrato infantil y la manera en cómo estas son comunicadas a los niños. Metodológicamente, se solicitó a la profesora preparar un taller para sus estudiantes orientado hacia la prevención del maltrato infantil. También, se llevó a cabo una entrevista con la docente para complementar los análisis. Los resultados indican que las significaciones del maltrato infantil, que emergen en la práctica educativa de la educadora, están permeadas por un sistema cultural más amplio, a saber, la religión católica, y que a través de lo religioso se comunica con sus estudiantes para alinear sus objetivos a los de ellos. Futuras investigaciones podrían centrarse en el estudio de la práctica docente, de manera detallada, y considerar la cultura como elemento fundamental de la organización escolar.

Participação infantil: a busca por uma relação democrática entre crianças e adultos

Directory of Open Access Journals (Sweden)

Rubia Vicente Demetrio

2015-10-01

Full Text Available http://dx.doi.org/10.5007/1980-4512.2015n31p224 O presente texto busca refletir sobre a participação das crianças nos contextos coletivos de educação da infância, tendo como a base a relação estabelecida entre crianças e adultos no cotidiano da instituição. Estas reflexões tiveram origem em uma experiência de estágio supervisionado na educação infantil do curso de Pedagogia, momento este caracterizado pelo encontro com as crianças pequenas e práticas educativas que marcam a vida das crianças e adultos que ali atuam. Diante disto, elegemos neste artigo algumas temáticas que marcaram este período e que consideramos importante para aprofundamento e reflexão na área da educação infantil. Esta experiência teve início na 7ª fase do curso de Pedagogia da UFSC com a habilitação em Educação Infantil, e teve como objetivo aproximar teoria e prática por meio da inserção em instituições de educação infantil públicas. Imersas no cotidiano da educação infantil, nos utilizamos das ferramentas pedagógicas de observação e registro, que orientaram, juntamente com a produção teórica sobre a educação infantil, as proposições na 8ª fase. Tendo como base um projeto que considera as crianças como referência da dinâmica das relações pedagógicas, tornando-as ponto de partida para a orientação das práticas educativa, elegemos três eixos norteadores para refletir sobre nossa inserção em campo, são elas: estágio, prática pedagógica e participação infantil.

Epidemiological dynamics of norovirus GII.4 variant New Orleans 2009.

Science.gov (United States)

Medici, Maria Cristina; Tummolo, Fabio; De Grazia, Simona; Calderaro, Adriana; De Conto, Flora; Terio, Valentina; Chironna, Maria; Bonura, Floriana; Pucci, Marzia; Bányai, Kristián; Martella, Vito; Giammanco, Giovanni Maurizio

2015-09-01

Norovirus (NoV) is one of the major causes of diarrhoeal disease with epidemic, outbreak and sporadic patterns in humans of all ages worldwide. NoVs of genotype GII.4 cause nearly 80-90 % of all NoV infections in humans. Periodically, some GII.4 strains become predominant, generating major pandemic variants. Retrospective analysis of the GII.4 NoV strains detected in Italy between 2007 and 2013 indicated that the pandemic variant New Orleans 2009 emerged in Italy in the late 2009, became predominant in 2010-2011 and continued to circulate in a sporadic fashion until April 2013. Upon phylogenetic analysis based on the small diagnostic regions A and C, the late New Orleans 2009 NoVs circulating during 2011-2013 appeared to be genetically different from the early New Orleans 2009 strains that circulated in 2010. For a selection of strains, a 3.2 kb genome portion at the 3' end was sequenced. In the partial ORF1 and in the full-length ORF2 and ORF3, the 2011-2013 New Orleans NoVs comprised at least three distinct genetic subclusters. By comparison with sequences retrieved from the databases, these subclusters were also found to circulate globally, suggesting that the local circulation reflected repeated introductions of different strains, rather than local selection of novel viruses. Phylogenetic subclustering did not correlate with changes in residues located in predicted putative capsid epitopes, although several changes affected the P2 domain in epitopes A, C, D and E.

Educação contra a exclusão: trabalho infantil e abandono escolar: uma realidade entre dois mundos

OpenAIRE

Mateus, Maria do Nascimento Esteves; Ribeiro, Maria do Céu

2009-01-01

Este trabalho subordinado ao tema “Educação Contra A Exclusão - Trabalho Infantil e Abandono Escolar: Uma Realidade Entre Dois Mundos” teve como objectivo compreender as estratégias que a Escola EB2,3/S D. Afonso III – Vinhais concebeu para manter ou chamar de novo os jovens adolescentes que abandonam a escola em prol de um trabalho infantil ilegal e desqualificado.

Optimal diagnostic strategy for infantile cholestasis in pediatric surgery

International Nuclear Information System (INIS)

Kato, Hisataka; Fumino, Shigehisa; Furukawa, Taizo; Ono, Shigeru; Kimura, Osamu; Deguchi, Eiichi; Iwai, Naomi

2011-01-01

The initial goal in treatment for infantile cholestasis is to exclude surgical cholestasis, especially biliary atresia (BA). In this study, we retrospectively reviewed the diagnostic course of infantile cholestasis. Between 2000 and 2009, a total of 44 infants with cholestasis were referred to our department. The median age at admission was 54 days (range: 0-143 days). The medical charts of these infants were reviewed. The initial diagnostic approach was ultrasonography followed by the qualitative detection of bilirubin in stool. The 35 infants with acholic stool and/or a small or absent gallbladder on ultrasonography were subsequently examined by hepatobiliary scintigraphy (HBS). Twenty-nine infants with negative scintigraphy findings underwent intraoperative cholangiography (lOC), and BA was finally confirmed in 24 of 44. A choledochal cyst was noted in 2, Alagille syndrome in 2, cytomegalovirus infection in 2, panhypopituitarism in 2, multiple hemangiomas of the liver in 1, and cholecystolithiasis in 1. The remaining 10 infants were diagnosed as having neonatal hepatitis. The sensitivity and specificity of HBS for BA were 100% and 54.5%, respectively. HBS is a useful modality for detection of BA with a sensitivity of 100%. The indication for IOC should depend on these scan results. (author)

O brincar criativo e a obesidade infantil

OpenAIRE

Mishima,Fernanda Kimie Tavares; Barbieri,Valéria

2009-01-01

A obesidade infantil é uma das doenças mais preocupantes atualmente, o estudo de seus fatores psicológicos é escasso, podendo se vincular a características específicas do brincar. Este trabalho objetiva investigar se há algum prejuízo causado pela dificuldade de expressão da criatividade no brincar de crianças obesas e, em caso positivo, qual a sua natureza. Foram realizados cinco estudos de caso com meninos obesos entre 7 e 10 anos, de nível sócio-econômico médio e famílias intactas, com apl...

Lenguaje infantil y educación verbal

OpenAIRE

Fernández Pérez, Milagros

2013-01-01

Comunicación presentada en: "V Congreso Mundial de Educación Infantil y Formación de Educadores. Antequera, 31 de octubre, 1 y 2 de noviembre de 2013, en Antequera" El trabajo subraya la importancia de contemplar el desarrollo lingüístico en sus procesos y etapas, y la necesidad de acomodar la educación verbal a las etapas evolutivas Ministerio de Ciencia y Tecnología (HUM 2007-66074-CO2-01/FILO) Xunta de Galicia. Consellería de Economía e Industria. Dirección xeral de Investigación, De...

Maltrato infantil en escuela ecuatoriana de Ambato

OpenAIRE

Romero Viamonte, Katherine; Villacís Salazar, Marina Isabel; Jara Vázquez, Ernesto

2016-01-01

Introducción: El maltrato infantil se define como el abuso y la desatención de que son objeto los menores de 18 años; incluye el maltrato físico o psicológico, abuso sexual, desatención, negligencia y explotación comercial o de otro tipo que puedan causar un daño a la salud, al desarrollo o la dignidad del niño, y poner en peligro su supervivencia, en el contexto de una relación de responsabilidad, confianza o poder. Método: Se realizó un estudio prospectivo, con enfoque cuali-cuantitativo, m...

Low Vision Management For Infantile Nystagmus: A Case Study

OpenAIRE

Alexandra Troy, OD; Sara Appel, OD

2015-01-01

Background: Infantile nystagmus is a common cause of visual impairment. It can occur in isolation, but it is often found in association with other conditions, such as albinism. The condition results in varying levels of vision impairments ranging from mild to severe. Characteristics include early onset, bilateral involvement, pendular and jerk waveforms, the presence of a null point, and the lack of optokinetic nystagmus and oscillopsia (environment moving). This article provides a review of...

Materiales y recursos en el aprendizaje de las matemáticas en la Educación Infantil

OpenAIRE

Fernández Castro, Elisa

2013-01-01

RESUMEN A lo largo del proceso de enseñanza y aprendizaje, los materiales y recursos y el uso adecuado de los mismos cobran un especial protagonismo. En el ámbito de la lógica-matemática durante la Educación Infantil, un correcto conocimiento de los materiales por parte de los docentes facilita y motiva el aprendizaje de los escolares. En este trabajo se muestra la importancia de los materiales en la enseñanza y el aprendizaje en la etapa infantil, con las ventajas y limitaciones de su uso y ...

Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.

Science.gov (United States)

Oresic, Kristina; Mueller, Britta; Tortorella, Domenico

2009-06-01

NCLs (neuronal ceroid lipofuscinoses), a group of inherited neurodegenerative lysosomal storage diseases that predominantly affect children, are the result of autosomal recessive mutations within one of the nine cln genes. The wild-type cln gene products are composed of membrane and soluble proteins that localize to the lysosome or the ER (endoplasmic reticulum). However, the destiny of the Cln variants has not been fully characterized. To explore a possible link between ER quality control and processing of Cln mutants, we investigated the fate of two NCL-related Cln6 mutants found in patient samples (Cln6(G123D) and Cln6(M241T)) in neuronal-derived human cells. The point mutations are predicted to be in the putative transmembrane domains and most probably generate misfolded membrane proteins that are subjected to ER quality control. Consistent with this paradigm, both mutants underwent rapid proteasome-mediated degradation and complexed with components of the ER extraction apparatus, Derlin-1 and p97. In addition, knockdown of SEL1L [sel-1 suppressor of lin-12-like (Caenorhabditis elegans)], a member of an E3 ubiquitin ligase complex involved in ER protein extraction, rescued significant amounts of Cln6(G123D) and Cln6(M241T) polypeptides. The results implicate ER quality control in the instability of the Cln variants that probably contributes to the development of NCL.

Quantitative characterization of all single amino acid variants of a viral capsid-based drug delivery vehicle.

Science.gov (United States)

Hartman, Emily C; Jakobson, Christopher M; Favor, Andrew H; Lobba, Marco J; Álvarez-Benedicto, Ester; Francis, Matthew B; Tullman-Ercek, Danielle

2018-04-11

Self-assembling proteins are critical to biological systems and industrial technologies, but predicting how mutations affect self-assembly remains a significant challenge. Here, we report a technique, termed SyMAPS (Systematic Mutation and Assembled Particle Selection), that can be used to characterize the assembly competency of all single amino acid variants of a self-assembling viral structural protein. SyMAPS studies on the MS2 bacteriophage coat protein revealed a high-resolution fitness landscape that challenges some conventional assumptions of protein engineering. An additional round of selection identified a previously unknown variant (CP[T71H]) that is stable at neutral pH but less tolerant to acidic conditions than the wild-type coat protein. The capsids formed by this variant could be more amenable to disassembly in late endosomes or early lysosomes-a feature that is advantageous for delivery applications. In addition to providing a mutability blueprint for virus-like particles, SyMAPS can be readily applied to other self-assembling proteins.

Estratificación socioeconómica y salud materno infantil en México

Directory of Open Access Journals (Sweden)

Carlos Javier Echarri Cánovas

2004-01-01

Full Text Available El objetivo del artículo es el estudio de la salud de los niños en México, mediante un análisis que tenga como eje la diferenciación social, la atención a la salud materno infantil y la estructura familiar. Se argumenta la necesidad de prestar mas atención al análisis de los determinantes que de los indicadores de salud, en virtud de las características de información disponible y de los niveles de mortalidad infantil. Un aspecto metodológico importante es que los estratos socioeconómicos actúan como variables intermedias tanto de las biodemográficas —edad, paridad y espaciamiento— como de la atención a la salud, por lo que el análisis de la mortalidad infantil no puede llevarse a cabo con las herramientas usuales, como las regresiones lineales, ya que se violaría el supuesto de la independencia de las variables explicativas. Al efectuar análisis por separado en cada estrato social vemos que los efectos de las variables consideradas son totalmente distintos. Si bien esto puede deberse al escaso número de eventos, ratifica nuestra hipótesis de que se debe proceder al análisis por separado en cada estrato, privilegiando la atención a la salud como la variable más importante.

A case of high-titer anti-D hemolytic disease of the newborn in which late onset and mild course is associated with the D variant, RHD-CE(9)-D.

Science.gov (United States)

Jakobsen, Marianne A; Nielsen, Christian; Sprogøe, Ulrik

2014-10-01

The RhD antigen is very immunogenic and is a significant cause of hemolytic disease of the newborn (HDN). The RHD-CE(8-9)-D hybrid allele is commonly associated with a D- phenotype. Here, we report a case of high-titer maternal anti-D and late onset of HDN in a newborn carrying a RHD-CE(9)-D variant supposedly encoding the same partial D antigen as the RHD-CE(8-9)-D allele, but with significant expression of D antigen. To elucidate the blood group antigen background of the case, we carried out serologic, flow cytometric, and genetics studies of the newborn and his father. Individuals carrying the RHD-CE(9)-D allele do express D antigen, but do so at significantly lower levels than those carrying the more common D+ phenotypes (e.g., DCe/dce). It may mitigate and delay otherwise severe HDN in pregnancies complicated by high-titer anti-D. © 2014 AABB.

Inteligencia conectiva para la educación matemática infantil

Directory of Open Access Journals (Sweden)

2017-07-01

Full Text Available La construcción de un cerebro conectivo comienza en las edades más tempranas del desarrollo humano. Sin embargo, el conocimiento que ya se tiene sobre los cerebros individual y colectivo apenas se ha incorporado en el desarrollo del pensamiento matemático en Educación Infantil, donde comienzan a gestarse elementos clave para tomar decisiones, resolver problemas de la vida cotidiana, tratar con datos y comprender el entorno. Desde esta perspectiva la presente investigación marca como objetivo general analizar el proceso de enseñanza-aprendizaje de las matemáticas en Educación Infantil a partir del conexionismo, considerando como objetivos específicos, por un lado, determinar las características de una práctica matemática que promueva las conexiones y, por otro lado, identificar los distintos tipos de conexiones matemáticas para fomentar la inteligencia conectiva. La investigación se lleva a cabo a lo largo de dos años consecutivos bajo un paradigma interpretativo con un enfoque metodológico basado en el uso combinado de Investigación-Acción y Teoría Fundamentada. Los resultados han permitido concretar un prototipo de actividad o conjunto de actividades que, en forma de secuencia didáctica, promueve tres tipos de conexiones matemáticas para desarrollar la inteligencia conectiva en Educación Infantil: conceptuales, que producen nexos entre contenidos matemáticos diversos; docentes, que vinculan diversos conceptos matemáticos a través de una metodología activa y de vivenciar las experiencias matemáticas con otras materias; y prácticas, que relacionan las matemáticas con el entorno.

Currículo en el nivel preescolar costarricense: El Ciclo Materno Infantil (CMI

Directory of Open Access Journals (Sweden)

Ana Lucía Chaves-Álvarez

2009-12-01

Full Text Available Recibido 20 de abril de 2009 • Aprobado 14 de setiembre de 2009 • Corregido 15 de octubre de 2009     Este artículo aborda la conceptuación y la descripción del Ciclo Materno Infantil como parte del nivel de preescolar del sistema educativo formal costarricense. Con el propósito de tener una visión más amplia de este Ciclo, se hace un repaso por el concepto de currículo, así como de los elementos que lo conforman, y, luego, se detallan específicamente los aspectos relacionados con el currículo de preescolar costarricense del Ciclo Materno Infantil, tomando como punto de partida el Programa de Estudio que se elaboró para atender este Ciclo en el sistema educativo de Costa Rica.

Relatório do estágio curricular supervisionado na Educação Infantil I: Centro Municipal de Educação Infantil Monteiro Lobato

Directory of Open Access Journals (Sweden)

Eva Aparecida dos Santos Ribeiro

2011-12-01

Full Text Available Este presente artigo é um relato de observação e regência na Educação Infantil, realizado no Centro Municipal de Educação Infantil Monteiro Lobato, localizado na Avenida dos jacarandás s/n, no Jardim das Primaveras, Sinop-MT. As observações e as regências foram realizadas no período vespertino, entre os dias 14 de junho à 05 de julho do ano de 2011, totalizando 60 horas de Estágio. Dias antes de iniciar o trabalho no CMEI, foi realizada uma visita para conhecer o ambiente onde iria fazer o estágio, uma breve observação da sala, conhecer a professora regente, conhecer o PPP do CMEI e sua metodologia de trabalho, como são realizados os planejamentos e a realizações dos projetos para melhor desenvolvimento das atividades a ser trabalhadas durante o estágio. A professora regente da turma está desenvolvendo o projeto sobre o Meio Ambiente, Preservação e reciclagem e seres vivos e não vivos, nos passando seu caderno de planejamento para conseguimos dar procedimento no seu trabalho, sempre estando presentes no caso de dúvidas e de ideias para desenvolver as atividades. No primeiro dia, fui apresentada eu aos alunos, e foi proposta uma roda de conversa para a apresentação dos alunos, para conhecê-los melhor, com todos sentados no chão e além de falarem o seu nome, falar se tinham irmãos, com quem morram?, e se gostam da escola e dos amigos ?, incluindo a professora regente da turma, me deixando aberta para suas perguntas e curiosidades, agindo sempre de modo amigável, para que os alunos não achassem que eu estava invadindo o seu espaço, a roda de conversa foi muito agradável. Nos próximos dias de atividades com o planejamento diário sempre de acordo com as necessidades dos alunos. Os alunos se demonstraram entusiasmados e aprenderam muito com as atividades lúdicas, leituras e dinâmicas. O conhecimento adquirido durante o estágio de Educação Infantil foi da importância de ensinar e também aprender, sempre

Mortalidade de infantil no município do Rio de Janeiro Mortalidad Infantil en el Municipio de Rio de Janeiro Child Mortality in Rio de Janeiro City

Directory of Open Access Journals (Sweden)

Lígia Neres Matos

2007-06-01

Full Text Available A taxa de mortalidade infantil é considerada indicador síntese da qualidade de vida e do nível de desenvolvimento de uma população. Este artigo analisa a evolução dessas taxas no Município do Rio de Janeiro, no período de 1979 a 2004, e as causas em 2004. Trata de estudo descritivo a partir do total de óbitos infantis e nascimentos ocorridos, utilizando-se os sistemas de informação produzidos pelo Ministério da Saúde. Para avaliação, segundo causa básica de morte, usou-se a Classificação Internacional de Doenças. As taxas de mortalidade infantil por mil nascidos vivos decresceram de 37,4 em 1979 para 15,1 em 2004, sendo o componente pós-neonatal o principal responsável por este declínio. Em 2004, as principais causas de óbito neonatais foram as afecções perinatais e as malformações congênitas; entre os óbitos pós-neonatais destacaram-se as doenças infecciosas e parasitárias, as causas mal definidas e as doenças respiratórias. Embora tenha sido observada queda da taxa de mortalidade infantil, esta não teve uma redução maior, devido ao pequeno declínio do componente neonatal precoce. Observou-se que a assistência à saúde da criança, no município do Rio de Janeiro, ainda deixa a desejar no que se refere à integralidade da assistência desde o período pré-natal.La tasa de mortalidad infantil es considerada indicador síntese de la calidad de vida y del nivel de desarrollo de una población. Este artículo analiza la evolución de esas tasas en la Ciudad del Rio de Janeiro, en el periodo de 1979 hasta 2004, y las causas en 2004. Tratase de un estudio descriptivo desde el total de fallecimientos infantiles y nacimientos ocurridos, usando los sistemas de informaciones producidos por el Ministerio de la Salud. Para la evaluación, según causa básica de muerte, fue usada la Clasificación Internacional de Enfermedades. Las tasas de mortalidad infantil por mil nacimientos vivos decrecieron de 37,4 en 1979

Pagos por desempeño para mejorar el estado nutricional infantil: impacto de los convenios de apoyo presupuestario en tres regiones peruanas con alta prevalencia de desnutrición crónica infantil, 2010-2014

Directory of Open Access Journals (Sweden)

Viviana Cruzado de la Vega

Full Text Available RESUMEN Objetivos. Estimar el impacto de un esquema de pago por desempeño, denominado convenios de apoyo presupuestario, aplicado por el Gobierno a las tres regiones con mayores tasas de desnutrición crónica infantil (DCI en 2008, Apurimac, Ayacucho y Huancavelica, sobre indicadores de cobertura de servicios de cuidado infantil (vacunación, controles de crecimiento y desarrollo infantil, suplemento de hierro y del estado nutricional del niño (desnutrición, anemia, diarrea. Mediante estos convenios se transferían recursos a los presupuestos de dichas regiones condicionados al cumplimiento de compromisos de gestión y metas de cobertura con el objetivo de mejorar el estado nutricional infantil. Materiales y métodos. A partir de los datos de la Encuesta Demográfica y de Salud Familiar de 2008 a 2014, se compara la evolución en los indicadores evaluados de una muestra de niños que residen en los ámbitos donde se suscribieron los convenios y una muestra de control, mientras los convenios estuvieron vigentes y en los años posteriores para reportar el estimador de diferencias en diferencias del impacto promedio de los convenios Resultados. se encuentran impactos positivos sobre el incremento de coberturas de vacunas del esquema básico y de la vacuna rotavirus y, a través de ellos, en la reducción de la ocurrencia de diarrea y desnutrición. Conclusiones. el esquema habría sido efectivo en activar la cadena mayor cobertura de vacunas y menor DCI, pero no parece mejorar la cobertura de otras prestaciones como las atenciones de crecimiento y desarrollo del niño y entrega de suplementos de hierro al niño y gestante.

OPTIMIZATION OF EARLY PHYSICAL REHABILITATION OF PATIENTS WITH SPASTIC INFANTILE CEREBRAL PALSIES

Directory of Open Access Journals (Sweden)

G. S. Lupandina-Bolotova

2014-01-01

Full Text Available Infantile cerebral palsy is an urgent issue of pediatric neurology all over the world. Adequate choice of the term and methods of rehabilitation helps children with this pathology to adapt to the society and improves prognosis of motor and mental development thereof. The article presents the optimal methods of physical rehabilitation at early stages of a child’s development based on the current understanding of neuroplasticity, reserve capabilities of a developing brain, as well as of pathophysiological aspects of recovery and compensation of the damaged structures of the central nervous system. The authors demonstrate crucial differences between approaches to rehabilitation of children under and over 2 years of age. Despite the selected methods of rehabilitation of children with infantile cerebral palsy, successful results of the therapy require a multidisciplinary approach characterized by early onset, balanced combination of methods of physical rehabilitation and drug therapy, physiotherapy and psychological-pedagogic support. 

Explotación sexual comercial infantil: las rutas de vida del maltrato

Directory of Open Access Journals (Sweden)

Raquel Méndez Villamizar

2012-07-01

Full Text Available Se aborda el tema de la explotación sexual comercial infantil aportando a la comprensión de las situaciones de riesgo y favorecedoras para el ingreso y la permanencia de niños, niñas y adolescentes a partir de la reconstrucción de las rutas de vida de los sujetos sometidos a esta forma de maltrato infantil. Desde un enfoque etnográfico se lograron 6 rutas de vida: 4 niñas y 2 niños explotados sexualmente en la Comuna Centro de la ciudad de Bucaramanga (Colombia. Se destaca el análisis y documentación sobre el ámbito familiar y social, el contexto de interacción y las prácticas cotidianas de un problema complejo caracterizado por la exclusión, el maltrato y el estigma de los niños en esta situación.

Explotación sexual comercial infantil: las rutas de vida del maltrato

Directory of Open Access Journals (Sweden)

Raquel Méndez Villamizar

2012-01-01

Full Text Available Se aborda el tema de la explotación sexual comercial infantil aportando a la comprensión de las situaciones de riesgo y favorecedoras para el ingreso y la permanencia de niños, niñas y adolescentes a partir de la reconstrucción de las rutas de vida de los sujetos sometidos a esta forma de maltrato infantil. Desde un enfoque etnográfico se lograron 6 rutas de vida, 4 niñas y 2 niños explotados sexualmente en la Comuna Centro de la ciudad de Bucaramanga (Colombia. Se destaca el análisis y documentación sobre el ámbito familiar y social, el contexto de interacción y las prácticas cotidianas de un problema complejo caracterizado por la exclusión, el maltrato y el estigma de los niños en esta situación.

A randomized, controlled trial of oral propranolol in infantile hemangioma.

Science.gov (United States)

Léauté-Labrèze, Christine; Hoeger, Peter; Mazereeuw-Hautier, Juliette; Guibaud, Laurent; Baselga, Eulalia; Posiunas, Gintas; Phillips, Roderic J; Caceres, Hector; Lopez Gutierrez, Juan Carlos; Ballona, Rosalia; Friedlander, Sheila Fallon; Powell, Julie; Perek, Danuta; Metz, Brandie; Barbarot, Sebastien; Maruani, Annabel; Szalai, Zsuzsanna Zsofia; Krol, Alfons; Boccara, Olivia; Foelster-Holst, Regina; Febrer Bosch, Maria Isabel; Su, John; Buckova, Hana; Torrelo, Antonio; Cambazard, Frederic; Grantzow, Rainer; Wargon, Orli; Wyrzykowski, Dariusz; Roessler, Jochen; Bernabeu-Wittel, Jose; Valencia, Adriana M; Przewratil, Przemyslaw; Glick, Sharon; Pope, Elena; Birchall, Nicholas; Benjamin, Latanya; Mancini, Anthony J; Vabres, Pierre; Souteyrand, Pierre; Frieden, Ilona J; Berul, Charles I; Mehta, Cyrus R; Prey, Sorilla; Boralevi, Franck; Morgan, Caroline C; Heritier, Stephane; Delarue, Alain; Voisard, Jean-Jacques

2015-02-19

Oral propranolol has been used to treat complicated infantile hemangiomas, although data from randomized, controlled trials to inform its use are limited. We performed a multicenter, randomized, double-blind, adaptive, phase 2-3 trial assessing the efficacy and safety of a pediatric-specific oral propranolol solution in infants 1 to 5 months of age with proliferating infantile hemangioma requiring systemic therapy. Infants were randomly assigned to receive placebo or one of four propranolol regimens (1 or 3 mg of propranolol base per kilogram of body weight per day for 3 or 6 months). A preplanned interim analysis was conducted to identify the regimen to study for the final efficacy analysis. The primary end point was success (complete or nearly complete resolution of the target hemangioma) or failure of trial treatment at week 24, as assessed by independent, centralized, blinded evaluations of standardized photographs. Of 460 infants who underwent randomization, 456 received treatment. On the basis of an interim analysis of the first 188 patients who completed 24 weeks of trial treatment, the regimen of 3 mg of propranolol per kilogram per day for 6 months was selected for the final efficacy analysis. The frequency of successful treatment was higher with this regimen than with placebo (60% vs. 4%, P<0.001). A total of 88% of patients who received the selected propranolol regimen showed improvement by week 5, versus 5% of patients who received placebo. A total of 10% of patients in whom treatment with propranolol was successful required systemic retreatment during follow-up. Known adverse events associated with propranolol (hypoglycemia, hypotension, bradycardia, and bronchospasm) occurred infrequently, with no significant difference in frequency between the placebo group and the groups receiving propranolol. This trial showed that propranolol was effective at a dose of 3 mg per kilogram per day for 6 months in the treatment of infantile hemangioma. (Funded by

PRUEBA DE CONOCIMIENTOS PARA LA ENSEÑANZA DEL NÚMERO EN FUTURAS MAESTRAS DE EDUCACIÓN INFANTIL

Directory of Open Access Journals (Sweden)

Tatiana Goldrine

2015-06-01

Full Text Available El presente artículo presenta el diseño y validación de un instrumento sobre el "conocimiento para la enseñanza del número en futuras maestras de educación infantil". El instrumento se fundamenta en tres componentes teóricos referidos al conocimiento docente: i los conceptos lógico matemáticos asociados a la construcción del número, ii la organización de la enseñanza y iii las etapas del aprendizaje de nociones de lógica y número. El instrumento plantea dos situaciones de aula de educación infantil para suscitar el conocimiento docente. Los resultados muestran que el instrumento posee validez de contenido y validez de constructo, alcanzando una consistencia interna de 0.72. Se concluye que el instrumento validado para medir el saber de las maestras para la enseñanza del número puede ser de utilidad en programas de formación docente en educación infantil.

Importância da biomecânica para o professor de Educação Física: observando uma brincadeira infantil

Directory of Open Access Journals (Sweden)

2006-11-01

Full Text Available O presente estudo busca traçar uma relação entre a biomecânica e a maturação do sistema nervoso, destacando a grande importância da primeira na educação física e na compreensão de alguns fenômenos físicos que ocorrem no corpo humano em tarefas infantis. PALAVRAS-CHAVE: Aprendizagem motora, desenvolvimento infantil, biomecânica The aim of this paper is to show the relation between biomechanics and the maturation of the nervous system, in order to emphasize the great importance of the former in physical education and to understand some physical phenomenon happening in human body during infantile tasks. KEY WORDS: Motive learning, infantile development, biomechanics

La salud emocional en Educación Infantil

OpenAIRE

García Gómez, Sandra

2015-01-01

En este trabajo se presenta una propuesta para trabajar las emociones en educación infantil, persiguiendo de esta forma lograr una correcta salud emocional que ayude a los niños y niñas a prevenir futuros problemas derivados de las emociones. En la propuesta que se plantea se introducen técnicas diferentes con las que se otorga a los alumnos y alumnas unas capacidades emocionales para que posean un control sobre sus emociones y sepan establecer unos límites a sus sentimientos. Grado en Edu...

Neonatal and infantile erythroderma: ′The red baby′

Directory of Open Access Journals (Sweden)

Sarkar Rashmi

2006-01-01

Full Text Available Neonatal and infantile erythroderma or "the red baby" is a rare condition. It can be potentially life-threatening and requires urgent attention of the dermatologists. The causes of erythroderma in this age group are different from that in adults and distinctive, but maybe difficult to establish due to poor specificity of clinical and laboratory findings. Careful monitoring and management of the patient may improve the final outcome. In this review, the various causes of "the red baby" is discussed along with its prognosis and management.

El timerosal y las enfermedades del neurodesarrollo infantil

OpenAIRE

Luis Maya; Flora Luna

2006-01-01

Se evalúa la relación causal entre el timerosal (etilmercurio), como preservante en las vacunas pediátricas, y el incremento de casos de enfermedades del neurodesarrollo infantil, como consecuencia de la ampliación de los esquemas de inmunización. Se revisó la información científica, relacionando el timerosal y las evidencias que permitan evaluar una posible asociación causal, con estudios epidemiológicos, ecológicos, biomoleculares y toxicológicos, de bioseguridad, toxicológicos fetales y so...

Estudio de seguridad y salud en la construcción de escuela infantil

OpenAIRE

González Márquez, Javier

2015-01-01

Se trata de un estudio de seguridad y salud en la construcción de una escuela infantil. Se han tenido en cuenta riesgos propios de la construcción así como en las instalaciones de abastecimiento, electricidad y contraincendios.

PERCEPCIONES DEL PROFESORADO DE EDUCACIÓN INFANTIL SOBRE SUS PROPUESTAS DE ENSEÑANZA EN APRENDIZAJE AUTORREGULADO

Directory of Open Access Journals (Sweden)

Sonia Rodríguez Fernández

2012-01-01

Full Text Available El presente trabajo muestra la investigación realizada para facilitar el desarrollo de la autorregulación del aprendizaje, implicando a los docentes de segundo ciclo de educación infantil de 18 Centros de la provincia de Granada, Jaén y Almería, a través del conocimiento y percepción de su propio proceso de enseñanza y aprendizaje. Se parte de un estudio descriptivo, con un diseño pre-experimental de corte cuantitativo,utilizando el EEPEA-EI (Escala para la evaluación del proceso de enseñanza-aprendizaje enEducación Infantil y diseñado para tal efecto. Los resultados muestran como el profesoradotiene unas concepciones claras sobre cómo desarrollar su proceso de enseñanza-aprendizaje en el aula, establece previamente las metas a alcanzar y se siente más satisfecho de proceso seguido. Como conclusión, destacamos que el profesorado de educación infantil desarrolla altas expectativas, creencias de mejora y satisfacción con el trabajo llevado a cabo.

El maltrato infantil: aspectos psicológicos y programas de tratamientos

OpenAIRE

González Díaz, Adriana

2013-01-01

La presente revisión recoge los aspectos psicológicos derivados del maltrato infantil. Expone la tipología, así la evaluación psicológica de los menores en estos casos y las patologías asociadas al maltrato. Finalmente se exponen los principales programas de intervención y tratamiento en estos casos

On Human Symbiosis and the Vicissitudes of Individuation. Infantile Psychosis, Volume 1.

Science.gov (United States)

Mahler, Margaret S.

The concepts of symbiosis and separation-individuation are explained, and the symbiosis theory of infantile psychosis is presented. Diagnostic considerations and clinical cases of child psychosis are reviewed; prototypes of mother-child interaction are described; and therapy is discussed. A summary of the symbiosis theory and a bibliography of…

Los efectos de la relajación mediante el masaje infantil en la memoria de trabajo

OpenAIRE

Segura-Meix, Míriam; Caballé-Barberá, Cristóbal; Castells-Carles, Laia

2017-01-01

Partiendo de la hipótesis de que la relajación, el masaje y la memoria de trabajo están interrelacionadas, el presente artículo se centra en una investigación llevada a cabo en un aula ordinaria de Educación Infantil de titularidad pública en las Tierras del Ebro, Tarragona. Tras desarrollar un número de sesiones de relajación, que incluían masaje infantil, se trató de comprobar si dicho trabajo mejoraba la memoria de trabajo de un grupo de niños de cinco años de edad. Las sesiones de relajac...

Juego heurístico: Otra forma de hacer matemáticas en Educación Infantil

OpenAIRE

López de Goicoechea Erdozáin, Leyre

2015-01-01

Este Trabajo de Fin de Grado trata el desarrollo del pensamiento lógico-matemático y la importancia del aprendizaje manipulativo en el proceso de enseñanza-aprendizaje de las matemáticas en los niños de Educación Infantil. Para llevarlo a cabo se ha partido de una revisión de bibliografía especializada. Además, el trabajo incluye una intervención educativa basada en el juego heurístico en un aula de segundo ciclo de Infantil, a través de la cual se pretende ofrecer una experiencia real de la ...

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease

Directory of Open Access Journals (Sweden)

A. Gupta

2015-01-01

Interpretation: Neonatal microstructural abnormalities correlate with neurodevelopmental treatment outcomes in patients treated for infantile Krabbe disease. DTI with quantitative tractography is an excellent biomarker for evaluating infants with Krabbe disease identified through newborn screening.

Treatment of Infantile Diarrhea by Acupuncture and Laser Irradiation - A Report of 60 Cases

Institute of Scientific and Technical Information of China (English)

丁渡明

2004-01-01

@@ Infantile diarrhea is a common disease in babies of less than 2 years old in summer or autumn. It is due to acute dyspepsia mainly caused by improper feeding or attack of cold or damp pathogens.Clinically, it is characterized by increased times of defecation (5-6, or even dozens of times a day),yellow-green or blue-green thin feces intermingled with mucus, milk-mass and indigested food which have a sour and fetid odor, accompanied with loss of appetite, abdominal distending pain, nausea,vomiting, and even fever, irritability, dehydration and electrolyte disturbance in severe cases. The microscopy reveals that there are leukocytes and fat globules in feces. We have treated 60 cases of infantile diarrhea with acupuncture and He-Ne laser point irradiation and obtained satisfactory therapeutic results.

Mortalidad infantil en Cuba 1959-1999

Directory of Open Access Journals (Sweden)

Raúl Riverón Corteguera

2001-09-01

enfermedades diarreicas y de las infecciones respiratorias agudas, la lactancia materna, el control de la sepsis y los síndromes neurológicos infecciosos, así como la tecnología avanzada y el desarrollo de las unidades de terapia intermedia e intensiva neonatales y pediátricas. No puede olvidarse tampoco el arduo trabajo desarrollado por nuestros médicos, enfermeras y técnicos que en todo momento han dado lo mejor de su trabajo en aras de reducir con sus modestos esfuerzos, la mortalidad infantil en toda Cuba.According to the available statistical data, from 1959 to 1999, infant mortality rate in Cuba decreased 81.3 %; early neonatal mortality, 73.4 %; late neonatal mortality, 83.6 %; and postneonatal mortality, 86.0 %. The reductions obtained during this period were uniformly distributed among all the provinces, although the most significant decrease took place in the central and western provinces. Enteritis and other diarrheal diseases, acute respiratory infections, perinatal affections in general and meningitis showed the greatest reductions, even though all the causes of death were reduced in this period. Natality decreased 51.3 %; fecundity, 30 %; and the gross demographic growth of the population, 59.8 %. The institutional delivery increased 65.9 %, low birth weight descended 36.9 %, perinatal mortality decreased 67.2 %, live births decreased 21.1 % and infant survival at 5 rose 3.8 %. This has been possible due mainly to the political decision made by our State of giving priority to the health sector and, specially, to maternal and child health at the beginning of the 1960s, which allowed to attain advances in the organizaton and quality of health care and a wide health services coverage. The improvement of the living standard, of education and of the health and epidemiological situation achieved by the population, as well as the equitative distribution of food, prioritizing mothers and children, were also important elements. A fundamental factor in the last

Extraocular Muscles Tension, Tonus, and Proprioception in Infantile Strabismus: Role of the Oculomotor System in the Pathogenesis of Infantile Strabismus—Review of the Literature

Directory of Open Access Journals (Sweden)

Costantino Schiavi

2016-01-01

Full Text Available The role played by the extraocular muscles (EOMs in the etiology of concomitant infantile strabismus is still debated and it has not yet definitively established if the sensory anomalies in concomitant strabismus are a consequence or a primary cause of the deviation. The commonest theory supposes that most strabismus results from abnormal innervation of the EOMs, but the cause of this dysfunction and its origin, whether central or peripheral, are still unknown. The interaction between sensory factors and innervational factors, that is, esotonus, accommodation, convergence, divergence, and vestibular reflexes in visually immature infants with family predisposition, is suspected to create conditions that prevent binocular alignment from stabilizing and strengthening. Some role in the onset of fixation instability and infantile strabismus could be played by the feedback control of eye movements and by dysfunction of eye muscle proprioception during the critical period of development of the visual sensory system. A possible role in the onset, maintenance, or worsening of the deviation of abnormalities of muscle force which have their clinical equivalent in eye muscle overaction and underaction has been investigated under either isometric or isotonic conditions, and in essence no significant anomalies of muscle force have been found in concomitant strabismus.

Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective.

Science.gov (United States)

Chen, Kai; Song, Jiangping; Wang, Zhen; Rao, Man; Chen, Liang; Hu, Shengshou

2018-05-01

Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart disease characterized by fibro-fatty replacement of the myocardium. TTN missense variants were previously reported as a pathogenic factor for ACM. TTN missense variants are commonly identified in ACM, but have limited effect on the phenotype of ACM. We sequenced 15 ACM-related genes in 35 patients who had a heart transplantation and quantified myocardium, and fibrous and adipose tissue in blocks of the explanted heart. Clinical and pathological characteristics were compared between patients with TTN variants and others. Pedigree analysis was performed in 3 families with TTN variants. TTN variants were detected in 11 patients (all missense, 9 heterozygous and 2 oligogenic form). The TTN truncating variant was absent in the cohort. Patients with TTN variants had late onset age of the disease (31 ±13 years vs 17 ±3 years, P = 0.049) and age of heart transplantation (41 ±14 years vs 24 ±9 years, P = 0.027), larger left ventricle end-diastolic diameter (62 ±10 mm vs 45 ±10 mm, P = 0.019), smaller right ventricular outflow tract (34 ±14 mm vs 50 ±15 mm, P = 0.046), more myocardium (40.8% ±29.4% vs 13.8% ±11.0%, P = 0.017), and less adipose tissue (43.0% ±30.9% vs 66.9% ±18.5%, P = 0.036) in right ventricle than those with desmosomal variants. There was few difference between patients with TTN variants and those without variants. Pedigrees showed none of the family members with TTN missense variants had a disease phenotype, indicating a very low penetrance. TTN missense variants was commonly identified in ACM patients in this cohort, but hardly played a primary role in ACM as causative variants. © 2018 Wiley Periodicals, Inc.

Correcao de informacoes vitais: estimacao da mortalidade infantil, Brasil, 2000-2009

Directory of Open Access Journals (Sweden)

Paulo Germano de Frias

2013-12-01

Full Text Available OBJETIVO : Propor método simplificado para corrigir informações vitais e estimar o coeficiente de mortalidade infantil no Brasil. MÉTODOS : A correção dos dados vitais dos sistemas de informação sobre mortalidade e nascidos vivos foi obtida por meio de fatores de correção, estimados com base em eventos não informados ao Ministério da Saúde e captados por pesquisa de busca ativa. O método simplificado de correção das informações vitais, de 2000-2009 para o Brasil e unidades da federação, estabelece o nível de adequação das informações de óbitos e nascidos vivos, pelo cálculo do coeficiente geral de mortalidade padronizado por idade e da razão entre os nascidos vivos, informados e esperados, respectivamente, em cada município brasileiro. A partir da aplicação dos fatores de correção ao número de óbitos e nascidos vivos, informados em cada município, as estatísticas vitais foram corrigidas, possibilitando estimar o coeficiente de mortalidade infantil. RESULTADOS : Os maiores fatores de correção foram referentes aos óbitos infantis que atingiram valores maiores do que 7 para municípios com grande precariedade de informações de mortalidade. Os fatores de correção apresentaram gradiente decrescente à medida que melhoraram os indicadores de adequação das informações vitais para óbitos e nascidos vivos. As informações vitais corrigidas pelo método simplificado por unidade da federação, em 2008, foram similares às obtidas na pesquisa de busca ativa. A taxa de natalidade e o coeficiente de mortalidade infantil decresceram em todas as regiões brasileiras, no período. A taxa de decréscimo anual foi de 6,0% no Nordeste, a maior do Brasil (4,7%. CONCLUSÕES : A busca ativa de óbitos e nascimentos possibilitou calcular fatores de correção por nível de adequação das informações de mortalidade e de nascidos vivos. O método simplificado proposto permitiu corrigir as informações vitais por

El tratamiento de la muerte en el álbum ilustrado infantil. Obras publicadas en castellano (1980-2008)

OpenAIRE

Arnal Gil, Javier Ignacio

2012-01-01

617 p.: il.col., graf. El tratamiento de la muerte en el álbum infantil. Obras publicadas en castellano (1980-2008) gira en torno a tres ejes fundamentales, literatura, infancia y muerte, y muestra la manera en que el álbum infantil acerca la muerte a los niños a través de sus páginas. A lo largo de este estudio se presta especial atención a los tabúes que siguen vivos dentro de un tema que no ha dejado de ser tabú, al tratamiento de los sentimientos que la muerte provoca, a los protag...

Elaboración de una ficha integrativa de evaluación psicológica infantil. FIEPsI

OpenAIRE

Carchipulla Aguilar, Verónica

2013-01-01

Este trabajo tiene como objetivo la Elaboración de una Ficha Integrativa de Evaluación Psicológica Infantil FIEPsI, a partir del Modelo Integrativo Focalizado en la personalidad y tomando en cuenta los aspectos necesarios para el trabajo con público infantil, de tal manera que la intervención con niños y niñas sea adecuado y funcional tanto para el terapeuta como para el paciente. Para alcanzar los resultados propuestos se utilizó una metodología que involucró la participación de al menos 44 ...

Proyecto Educativo para Potenciar la Alimentación Sana en alumnos de Educación Infantil (PEPAS)

OpenAIRE

Lozano-Albalate, Laura

2015-01-01

El presente Trabajo Fin de Grado nace con el principal objetivo de mejorar la salud de los alumnos de segundo ciclo de Educación Infantil a través de una alimentación sana. Para ello, en primer lugar, se realiza un estudio teórico de la situación actual de la alimentación infantil y de las características con las que debe contar una dieta sana, variada y equilibrada. Posteriormente, se diseña un Proyecto Educativo que ayude tanto a los alumnos como a sus familias a comprender los beneficios d...

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Directory of Open Access Journals (Sweden)

Héron Bénédicte

2012-06-01

Full Text Available Abstract Background Niemann-Pick disease type C (NP-C is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are limited. We report findings from a prospective open-label study in the French paediatric NP-C cohort. Methods Data on all paediatric NP-C patients treated with miglustat in France between October 2006 and December 2010 were compiled. All patients had a confirmed diagnosis of NP-C, and received miglustat therapy according to manufacturer’s recommendations. Pre-treatment and follow-up assessments were conducted according to a standardized protocol. Results Twenty children were enrolled; 19 had NPC1 gene mutations and 1 had NPC2 gene mutations. The median age at diagnosis was 1.5 years, and the median age at miglustat initiation was 6.0 years. Eight NPC1 patients had the early-infantile, eight had the late-infantile, and three had the juvenile-onset forms of NP-C. A history of hepatosplenomegaly and/or other cholestatic symptoms was recorded in all 8 early-infantile onset patients, 3/8 late-infantile patients, and 1/3 juvenile onset patients. Brain imaging indicated white matter abnormalities in most patients. The median (range duration of miglustat therapy was 1.3 (0.6–2.3 years in early-infantile, 1.0 (0.8–5.0 year in late-infantile, and 1.0 (0.6–2.5 year in juvenile onset patients. NP-C disability scale scores indicated either stabilization or improvement of neurological manifestations in 1/8, 6/8, and 1/3 NPC1 patients in these subgroups, respectively. There were no correlations between brain imaging findings and disease course. Mild-to-moderate gastrointestinal disturbances were frequent during the first 3 months of miglustat therapy, but were easily managed with dietary modifications and/or anti-propulsive medication. Conclusions Miglustat can improve or stabilize neurological

Intrauterine nicotine exposure, birth weight, gestational age and the risk of infantile colic

DEFF Research Database (Denmark)

Milidou, Ioanna; Søndergaard, Charlotte; Jensen, Morten Søndergaard

Background Preterm and growth restricted infants may have developmental delays or deviant organ function related to the central nervous system and the gastrointestinal tract. Since both organ systems are hypothesized to be involved in the pathogenesis of infantile colic, a condition characterized...

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Science.gov (United States)

Esmer, Carmen; Villegas-Aguilera, Miguel; Morales-Ibarra, Juan José; Bravo-Oro, Antonio

Alexander disease is a rare form of leukodystrophy that involves mainly astrocytes; it is inherited in an autosomal recessive manner and occurs by mutations in the GFAP gene, located on chromosome 17q21. It can occur at any age and its infantile form is characterized by macrocephaly, seizures, severe motor and cognitive delay, and progressive spasticity or ataxia. An 8-month-old female was evaluated with a history of neurodevelopmental delay and unprovoked focal motor seizures. Physical examination showed normal head circumference, increased motor responses to tactile and noise stimuli, pyramidal signs and no visceromegalies. Widespread hypodense white matter was found on magnetic resonance and lumbar puncture showed hyperproteinorrachia. Krabbe disease was ruled out by enzymatic assay and gene sequencing of GALC. In the reassessment of the case, abnormalities in neuroimaging lead to suspicion of Alexander disease, and GFAP gene sequencing reported a pathogenic mutation in exon 4 c.716G>A, which caused a change of arginine to histidine at position 239 of the protein (p.Arg239His). The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis. Copyright © 2016 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

CT and MR imaging characteristics of infantile hepatic hemangioendothelioma

International Nuclear Information System (INIS)

Feng Shiting; Chan Tao; Ching, A.S.C.; Sun Canhui; Guo Huanyi; Fan Miao; Meng Quanfei; Li Ziping

2010-01-01

Aim: This study aims to analyze computed tomography (CT) and magnetic resonance (MR) imaging features of infantile hepatic hemangioendotheliomas before and after treatment. Materials and methods: CT and MR examinations of seven infants with biopsy proven hepatic hemangioendotheliomas were retrospectively analyzed. The distribution, number, size, imaging appearance, enhancement pattern and post-treatment changes of the tumors were evaluated. Results: A total of 153 hepatic hemangioendotheliomas were detected on CT (111) and MR (42) imaging. In six infants, 109/111 (98.2%) tumors were hypodense and 2/111 (1.8%) lesions contained calcification on unenhanced CT. On MR imaging, all 42 lesions in one infant were heterogeneously T1-hypointense and T2-hyperintense compared to the normal liver parenchyma. Contrast-enhanced CT and MRI showed peripheral rim (51.6%), uniform (48.4%), fibrillary (33.3%), and nodular (28.8%) contrast enhancement in the hepatic arterial phase. Homogeneous (100%), rim (98.2%) and mixed enhancement patterns were noted in tumors 2.0 cm and 1.0-2.0 cm in diameter respectively in the hepatic arterial phase. In three patients who underwent steroid therapy, follow-up CT examination demonstrated tumor size reduction and increased intra-tumoral calcification in two patients. Conclusion: Infantile hepatic hemangioendotheliomas show some typical imaging features and size-dependent pattern of contrast enhancement on CT and MR imaging, which allow accurate imaging diagnosis and post-treatment evaluation.

Ajuste social y escolar de jóvenes víctimas de maltrato infantil en situación de acogimiento residencial

Directory of Open Access Journals (Sweden)

Alexander Muela

2013-01-01

Full Text Available El objetivo del presente trabajo consistió en examinar el ajuste social y escolar de jóvenes que habían sufrido maltrato en la infancia y se encontraban en situación de acogimiento residencial. Además, pretendíamos comprobar si existían diferencias entre los sujetos sometidos a distintas situaciones de desprotección infantil. En el estudio participaron 318 jóvenes residentes en la Comunidad Autónoma del País Vasco de edades comprendidas entre los 13 y los 18 años (M = 15.35, DT = 1.68 pertenecientes a tres colectivos. El primero de ellos estaba constituido por 69 jóvenes (31 mujeres y 38 varones víctimas de maltrato infantil que se hallaban bajo una medida de protección de acogimiento residencial. El segundo grupo estaba formado por 75 jóvenes (29 mujeres y 46 varones víctimas de maltrato infantil que se encontraban en situación de riesgo de desamparo. Por último, el tercer grupo estaba constituido por 174 jóvenes (95 mujeres y 79 varones que no habían sufrido maltrato. Los resultados pusieron de manifiesto que, independientemente de la situación de desprotección infantil en la que se encontrasen, los jóvenes víctimas de maltrato infantil mostraban mayores dificultades de adaptación social y escolar que los jóvenes que no habían sufrido maltrato en la infancia.

Timing of surgery for infantile esotropia: sensory and motor outcomes

OpenAIRE

Wong, Agnes M.F.

2008-01-01

Infantile esotropia is a common ophthalmic disorder in childhood. It is often accompanied by profound maldevelopment of stereopsis, motion processing, and eye movements, despite successful surgical realignment of the eyes. The proper timing of surgery has been debated for decades. There is growing evidence from clinical and animal studies that surgery during the early critical periods enhances sensory and ocular motor development. The Congenital Esotropia Observational Study has defined a cli...

Infantile myofibromatosis: a most unusual cause of gastric outlet obstruction

Energy Technology Data Exchange (ETDEWEB)

Rohrer, Kellie; Murphy, Robyn; Thresher, Caroline; Jacir, Nabil; Bergman, Kerry [Morristown Memorial Hospital, Department of Radiology, Morristown, NJ (United States)

2005-08-01

Non-bilious vomiting in the newborn is common. Etiologies include both surgical and medical conditions. Gastroesophageal reflux, soy or milk protein allergy, and prostaglandin-induced foveolar hyperplasia are among the medical causes. Surgical entities include gastric antral webs, pre-ampullary duodenal and pyloric atresia, and hypertrophic pyloric stenosis. We report the unique case of an 8-day-old girl who presented with gastric outlet obstruction secondary to infantile myofibromatosis. (orig.)

Exploración psicológica forense del abuso sexual infantil: revisión de procedimientos e instrumentos

OpenAIRE

Pereda Beltran, Noemí; Arch Marín, Mila

2012-01-01

El objetivo del presente trabajo fue realizar una revisión de los procedimientos e instrumentos publicados para la exploración psicológica forense del abuso sexual infantil. Se obtuvieron 82 artículos originales con información relativa a instrumentos psicológicos para la evaluación del abuso sexual infantil. El 71,9% de los artículos se centraron en instrumentos clínicos, basados en indicadores psicológicos y emocionales, mientras que el 28,1% se basaron en el análisis de la credibilidad del...

Genetic Variants in KLOTHO Associate With Cognitive Function in the Oldest Old Group

DEFF Research Database (Denmark)

Mengel-From, Jonas; Sørensen, Mette; Nygaard, Marianne

2016-01-01

, for example, growth factor signaling. In the present study, 19 tagging gene variants in KL were studied in relation to 2 measures of cognitive function, a 5-item cognitive composite score and the Mini Mental State Examination, in 1,480 Danes 92-100 years of age. We found that heterozygotes for the previously......Decline in cognitive abilities is a major concern in aging individuals. A potential important factor for functioning of the central nervous system in late-life stages is the KLOTHO (KL) gene. KL is expressed in various organs including the brain and is involved in multiple biological processes...... reported KL-VS had poorer cognitive function than noncarriers. Two other variants positioned in the 5' end of the gene, rs398655 and rs562020, were associated with better cognitive function independently of KL-VS, and the common haplotype AG was associated with poorer cognition, consistently across two...

Los musicogramas y otros recursos visuales como recursos para la audición musical en educación infantil

OpenAIRE

Sanz Rubio, Laura

2015-01-01

Este trabajo indaga acerca del uso de musicogramas y otros recursos visuales y audiovisuales utilizados como soporte durante los procesos de escucha musical en la etapa de educación infantil. Para ello se ha realizado un breve estudio sobre el tema, y posteriormente una búsqueda y selección de los recursos disponibles en Internet. En este tipo de recursos los elementos visuales y audiovisuales sirven como apoyo para hacia la comprensión auditiva. Grado en Educación Infantil

Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

Directory of Open Access Journals (Sweden)

Marina V. Shulskaya

2018-05-01

Full Text Available Background: Parkinson’s disease (PD is a complex disease with its monogenic forms accounting for less than 10% of all cases. Whole-exome sequencing (WES technology has been used successfully to find mutations in large families. However, because of the late onset of the disease, only small families and unrelated patients are usually available. WES conducted in such cases yields in a large number of candidate variants. There are currently a number of imperfect software tools that allow the pathogenicity of variants to be evaluated.Objectives: We analyzed 48 unrelated patients with an alleged autosomal dominant familial form of PD using WES and developed a strategy for selecting potential pathogenetically significant variants using almost all available bioinformatics resources for the analysis of exonic areas.Methods: DNA sequencing of 48 patients with excluded frequent mutations was performed using an Illumina HiSeq 2500 platform. The possible pathogenetic significance of identified variants and their involvement in the pathogenesis of PD was assessed using SNP and Variation Suite (SVS, Combined Annotation Dependent Depletion (CADD and Rare Exome Variant Ensemble Learner (REVEL software. Functional evaluation was performed using the Pathway Studio database.Results: A significant reduction in the search range from 7082 to 25 variants in 23 genes associated with PD or neuronal function was achieved. Eight (FXN, MFN2, MYOC, NPC1, PSEN1, RET, SCN3A and SPG7 were the most significant.Conclusions: The multistep approach developed made it possible to conduct an effective search for potential pathogenetically significant variants, presumably involved in the pathogenesis of PD. The data obtained need to be further verified experimentally.

LHD1, an allele of DTH8/Ghd8, controls late heading date in common wild rice (Oryza rufipogon).

Science.gov (United States)

Dai, Xiaodong; Ding, Younian; Tan, Lubin; Fu, Yongcai; Liu, Fengxia; Zhu, Zuofeng; Sun, Xianyou; Sun, Xuewen; Gu, Ping; Cai, Hongwei; Sun, Chuanqing

2012-10-01

Flowering at suitable time is very important for plants to adapt to complicated environments and produce their seeds successfully for reproduction. In rice (Oryza rufipogon Griff.) photoperiod regulation is one of the important factors for controlling heading date. Common wild rice, the ancestor of cultivated rice, exhibits a late heading date and a more sensitive photoperiodic response than cultivated rice. Here, through map-based cloning, we identified a major quantitative trait loci (QTL) LHD1 (Late Heading Date 1), an allele of DTH8/Ghd8, which controls the late heading date of wild rice and encodes a putative HAP3/NF-YB/CBF-A subunit of the CCAAT-box-binding transcription factor. Sequence analysis revealed that several variants in the coding region of LHD1 were correlated with a late heading date, and a further complementary study successfully rescued the phenotype. These results suggest that a functional site for LHD1 could be among those variants present in the coding region. We also found that LHD1 could down-regulate the expression of several floral transition activators such as Ehd1, Hd3a and RFT1 under long-day conditions, but not under short-day conditions. This indicates that LHD1 may delay flowering by repressing the expression of Ehd1, Hd3a and RFT1 under long-day conditions. © 2012 Institute of Botany, Chinese Academy of Sciences.

Condición infantil contemporánea: hacia una epistemología de las infancias

Directory of Open Access Journals (Sweden)

Juan Carlos Amador Baquiro

2013-05-01

Full Text Available El artículo analiza la construcción social y subjetiva de lainfancia en el contexto de dos referentes: la configuraciónsocial que surgió del proyecto civilizatorio de Occidentey la sedimentación moderno-colonial de las sociedadesde América Latina y el Caribe. A partir de ese análisis, seidentifican los principales elementos que permiten reconocerel concepto ‘condición infantil contemporánea’para, finalmente, proponer el ‘campo infancias’ comouna opción epistemológica distinta a la de los saberesmodernos que permita comprender los modos de ser yexistir de estos sujetos en el tiempo presente.Palabras claveCondición infantil contemporánea, configuración social,sociedades moderno-coloniales, campo infancias.

La interacción escuela–familia: algunas claves para repensar la formación del profesorado de Educación Infantil

Directory of Open Access Journals (Sweden)

Mª Luisa MIR POZO

2012-01-01

Full Text Available En el estudio que presentamos identificamos las estrategias relacionales que se utilizan con las familias en escuelas infantiles de 0–3 años de las Islas Baleares y esbozamos algunas orientaciones que puedan ayudar a mejorar la participación comunitaria y la formación del profesorado de educación infantil. Los contextos de la familia y la escuela comparten la socialización de los niños y las niñas desde edades cada vez más tempranas. La corresponsabilidad educativa exige la creación de espacios compartidos para la construcción de una relación que facilite la inclusión del ámbito familiar en la institución educativa para favorecer el desarrollo y el aprendizaje infantil.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Science.gov (United States)

Shamseldin, Hanan E.; Faqeih, Eissa; Alasmari, Ali; Zaki, Maha S.; Gleeson, Joseph G.; Alkuraya, Fowzan S.

2016-01-01

Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex. PMID:26708753

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

NARCIS (Netherlands)

Poll-The, B. T.; Saudubray, J. M.; Ogier, H. A.; Odièvre, M.; Scotto, J. M.; Monnens, L.; Govaerts, L. C.; Roels, F.; Cornelis, A.; Schutgens, R. B.

1987-01-01

Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present.

Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis.

Science.gov (United States)

Palmer, D N; Tyynelä, J; van Mil, H C; Westlake, V J; Jolly, R D

1997-03-01

The neuronal ceroid-lipofuscinoses (NCL, Batten disease) are fatal inherited neurodegenerative diseases of children characterized by retinal and brain atrophy and the accumulation of electron-dense storage bodies in cells. Mutations in different genes underlie different major forms. The infantile disease (CLN-1, McKusick 256730) is distinguished by the storage of the sphingolipid activator proteins (SAPs) A and D in distinctive granular osmiophilic deposits (GRODs). This contrasts with the other major forms, where subunit c of mitochondrial ATP synthase is stored in various multilamellar profiles. Ceroid-lipofuscinoses also occur in dogs, including a form in miniature Schnauzers with distinctive granular osmiophilic deposit-like storage bodies. Antisera to SAPs A and D reacted to these storage bodies in situ. The presence of SAP D was confirmed by Western blotting and of SAP A by protein sequencing. Neither subunit c of mitochondrial ATP synthase nor of vacuolar ATPase is stored. This suggests that there are two families of ceroid-lipofuscinoses, the subunit c-storing forms, and those in which SAPs A and D, and perhaps other proteins, accumulate. Further work is required to determine whether other forms with granular osmiophilic deposits belong to the latter class and the genetic relationships between them and the human infantile disease.

Dysphagia lusoria: a late onset presentation.

Science.gov (United States)

Bennett, Alice Louise; Cock, Charles; Heddle, Richard; Morcom, Russell Kym

2013-04-21

Dysphagia lusoria is a term used to describe dysphagia secondary to vascular compression of the oesophagus. The various embryologic anomalies of the arterial brachial arch system often remain unrecognised and asymptomatic, but in 30%-40% of cases can result in tracheo-oesophageal symptoms, which in the majority of cases manifest as dysphagia. Diagnosis of dysphagia lusoria is via barium swallow and chest Computed tomography scan. Manometric abnormalities are variable, but age-related manometric changes may contribute to clinically relevant dysphagia lusoria in patients who present later in life. Our report describes a case of late-onset dysphagia secondary to a right aortic arch with an aberrant left subclavian artery, which represents a rare variant of dysphagia lusoria. The patient had proven additional oesophageal dysmotility with solid bolus only and a clinical response to dietary modification.

Obesidad Infantil.Alimentación,actividad física y medio ambiente

OpenAIRE

Cabrerizo, Sofía; Díez, Sara; Fernández, Bibiana

2018-01-01

Situación en Asturias del problema de la obesidad infantil,aspectos multifactoriales del problema,y elaboración de una serie de recomendaciones de las evidencias disponibles a partir de las evidencias disponibles y de una revisión bibliográfica. Consejería de Sanidad del Principado de Asturias

Reflexiones etnográficas sobre el ocio infantil

Directory of Open Access Journals (Sweden)

Begoña Leyra Fatou

2014-06-01

Full Text Available El presente artículo revisa y amplía parte de los resultados de un estudio realizado sobre el ocio infantil en la Comunidad de Madrid (España (Gaitán, Domínguez, Bárcenas y Leyra, 2011, tratando de analizar el concepto de ocio, como proceso educativo, que de manera transversal enlaza diferentes elementos de la vida cotidiana de niños y niñas. Asimismo, a través de estas páginas se examinarán los diferentes discursos, comportamientos y percepciones que tienen respecto al ocio tanto los niños y niñas como las personas adultas que participaron en la investigación. Se tratará de hacer un recorrido por la propia concepción del ocio infantil así como del tiempo libre, y de los usos y prácticas diferenciadas en distintos grupos de niños y niñas, analizando cómo el ocio forma parte de la educación formal y no formal, llevando consigo elementos transversales de género y edad. Para este estudio se contó con un “grupo junior” de investigación, compuesto por niños y niñas que realizaron reflexiones y aportaciones tanto a lo largo del proceso etnográfico como sobre los resultados obtenidos, fortaleciendo el propio enfoque de “Protagonismo Infantil” y de “Co-investigación de niños y niñas”.

El cambio de clase en vela infantil y juvenil: estudios desde 2003 hasta 2013

Directory of Open Access Journals (Sweden)

Jordi Renom Pinsach

2014-09-01

Full Text Available Este trabajo presenta las principales conclusiones del Programa de tutorización para el cambio de clase (PTCC iniciado por la Federación Catalana de Vela (FCV en el 2001. Se trata de un proyecto inédito a nivel internacional, que pretende conocer e incidir en la mejora continua del paso de los regatistas infantiles a las clases juveniles. En vela de competición, el tiempo final en la clase Optimist, la elección de una nueva clase y las primeras experiencias en la escogida son momentos clave de la vida deportiva de los regatistas. Después de un periodo piloto, en el 2003 se inició un proceso de 10 años durante el que se han llevado a cabo tres estudios (2003, 2008 y 2013 de seguimiento e intervención de las flotas infantiles y juveniles de la FCV. Mediante cuestionarios creados para este proyecto se han recogido impresiones de 370 regatistas infantiles, 231 juveniles y de 170 padres y madres. Vista la extensión de los resultados, el artículo se centra en las tendencias que más informan sobre la evolución de los regatistas, especialmente en el estudio de 2013, a la vez que presenta el PTCC como un posible modelo para el seguimiento de flotas aplicable a otras organizaciones relacionadas con la vela de competición.

Diagnósticos em psiquiatria infantil: uma reflexão a partir da obra de Winnicott

Directory of Open Access Journals (Sweden)

Rosana Kesrouani

Full Text Available A realização dos diagnósticos em psiquiatria infantil depende tanto do campo teórico que constitui esta especialidade como da forma que é realizado. É necessário discutir estes aspectos, pois o diagnóstico tem implicações na terapêutica a ser proposta, para a realização de pesquisas e para a proposição de ações de saúde, e para a vida tanto do paciente quanto de sua família. Este artigo pretende evidenciar algumas das contribuições de D. W. Winnicott e propor discussão sobre o diagnóstico em psiquiatria infantil.

Infantile colic, regurgitation, and constipation: an early traumatic insult in the development of functional gastrointestinal disorders in children?

Science.gov (United States)

Indrio, Flavia; Di Mauro, Antonio; Riezzo, Giuseppe; Cavallo, Luciano; Francavilla, Ruggiero

2015-06-01

Functional gastrointestinal disorders (FGIDs) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms not explained by structural or biochemical abnormalities. Infantile colic, gastroesophageal reflux, and constipation are the most common FGIDs that lead to referral to a pediatrician during the first 6 months of life and are often responsible for hospitalization, feeding changes, use of drugs, parental anxiety, and loss of parental working days with relevant social consequences. We performed a retrospective study on patients referred for recurrent abdominal pain from January 2002 trough December 2009 to our Pediatric Gastroenterology Outpatient Unit. The population studied was matched with healthy control without history of recurrent abdominal pain, enrolled among pediatricians practicing primary health care. History of infantile colic, regurgitation, and functional constipation was detected respectively in 26.41, 25.31, and 30.16% of children diagnosed with FGIDs compared to 11.34, 12.85, and 11.76% of healthy children. According to our data, children with a history of gastrointestinal infantile distress have a higher prevalence of FGIDs years later.

[Analysis of the Characteristics of Infantile Small World Neural Network Node Properties Correlated with the Influencing Factors].

Science.gov (United States)

Qu, Haibo; Lu, Su; Zhang, Wenjing; Xiao, Yuan; Ning, Gang; Sun, Huaiqiang

2016-10-01

We applied resting-state functional magnetic resonance imaging(rfMRI)combined with graph theory to analyze 90 regions of the infantile small world neural network of the whole brain.We tried to get the following two points clear:1 whether the parameters of the node property of the infantile small world neural network are correlated with the level of infantile intelligence development;2 whether the parameters of the infantile small world neural network are correlated with the children’s baseline parameters,i.e.,the demographic parameters such as gender,age,parents’ education level,etc.Twelve cases of healthy infants were included in the investigation(9males and 3females with the average age of 33.42±8.42 months.)We then evaluated the level of infantile intelligence of all the cases and graded by Gesell Development Scale Test.We used a Siemens 3.0T Trio imaging system to perform resting-state(rs)EPI scans,and collected the BOLD functional Magnetic Resonance Imaging(fMRI)data.We performed the data processing with Statistical Parametric Mapping 5(SPM5)based on Matlab environment.Furthermore,we got the attributes of the whole brain small world and node attributes of 90 encephalic regions of templates of Anatomatic Automatic Labeling(ALL).At last,we carried out correlation study between the above-mentioned attitudes,intelligence scale parameters and demographic data.The results showed that many node attributes of small world neural network were closely correlated with intelligence scale parameters.Betweeness was mainly centered in thalamus,superior frontal gyrus,and occipital lobe(negative correlation).The r value of superior occipital gyrus associated with the individual and social intelligent scale was-0.729(P=0.007);degree was mainly centered in amygdaloid nucleus,superior frontal gyrus,and inferior parietal gyrus(positive correlation).The r value of inferior parietal gyrus associated with the gross motor intelligent scale was 0.725(P=0.008);efficiency was mainly

EVALUATION OF THE SUB-NATIONAL DECENTRALIZATION OF THE HEALTH IN VENEZUELA INFANTILE MATERNAL PROGRAM

Directory of Open Access Journals (Sweden)

Maritza Ávila Urdaneta

2009-11-01

Full Text Available The work approaches the evaluation of the decentralization of the health at sub-national level in Venezuela, maternal program Infantile (PROMIN, period 1998-2004: Case of study, Estado Zulia. With the samples of ten Municipalities and Coordinators of Health (CH. Of the results and conclusions, it is appraised that in Venezuela with the Model of Integral Attention with respect to the PROMIN (1998-2004, the reason of Maternal Mortality RMM average for the country ascends to 60 by 100,000 NVR (OPS, 2003, whereas in Zulia was in 79,9; they emphasize the Municipalities: Cañada de Urdaneta with but the high one of 214.13, followed of Mara 149.44 by 100,000 NVR. Key words: Sub-national decentralization of the Health, Infantile Maternal Program, Indicating of Morbidity and Mortality, Coordination of the Municipal Health.

Evolução da assistência materno-infantil na cidade de São Paulo (1984-1996

Directory of Open Access Journals (Sweden)

Carlos Augusto Monteiro

2000-12-01

Full Text Available OBJETIVO: Descrever a evolução da assistência materno-infantil, com base nas informações extraídas de dois inquéritos domiciliares realizados nos anos de 1984/85 e de 1995/96, na cidade de São Paulo, SP. MÉTODOS: Foram estudadas amostras probabilísticas da população entre zero e 59 meses de idade: 1.016 crianças em 1984/85 e 1.280 crianças em 1995/96. Três componentes da assistência materno-infantil foram investigados: assistência pré-natal, assistência ao parto e ao recém-nascido e assistência de puericultura. RESULTADOS: Aspectos favoráveis da evolução da assistência materno-infantil na cidade de São Paulo foram a manutenção da cobertura universal da assistência hospitalar ao parto, a expansão substancial do alojamento conjunto mãe-filho na maternidade, o aumento no número de consultas de puericultura no primeiro ano de vida e, sobretudo, a universalização da cobertura das vacinas BCG, tríplice e anti-sarampo. Aspectos desfavoráveis foram o progresso muito modesto e claramente insuficiente da assistência pré-natal, a manutenção de quase 50% de cesarianas e a não expansão da puericultura após o primeiro ano de vida. CONCLUSÕES: Estimativas sobre a evolução da assistência materno-infantil no conjunto das áreas urbanas do País em período semelhante confirma e acentua o desempenho insatisfatório da assistência pré-natal na cidade de São Paulo. Comparações favoráveis a São Paulo são registradas apenas quanto a cobertura vacinal. A influência que mudanças na assistência materno-infantil podem ter exercido sobre a evolução de diferentes indicadores do estado de saúde das crianças da cidade é examinada em artigos subseqüentes.

Evolução da assistência materno-infantil na cidade de São Paulo (1984-1996

Directory of Open Access Journals (Sweden)

Monteiro Carlos Augusto

2000-01-01

Full Text Available OBJETIVO: Descrever a evolução da assistência materno-infantil, com base nas informações extraídas de dois inquéritos domiciliares realizados nos anos de 1984/85 e de 1995/96, na cidade de São Paulo, SP. MÉTODOS: Foram estudadas amostras probabilísticas da população entre zero e 59 meses de idade: 1.016 crianças em 1984/85 e 1.280 crianças em 1995/96. Três componentes da assistência materno-infantil foram investigados: assistência pré-natal, assistência ao parto e ao recém-nascido e assistência de puericultura. RESULTADOS: Aspectos favoráveis da evolução da assistência materno-infantil na cidade de São Paulo foram a manutenção da cobertura universal da assistência hospitalar ao parto, a expansão substancial do alojamento conjunto mãe-filho na maternidade, o aumento no número de consultas de puericultura no primeiro ano de vida e, sobretudo, a universalização da cobertura das vacinas BCG, tríplice e anti-sarampo. Aspectos desfavoráveis foram o progresso muito modesto e claramente insuficiente da assistência pré-natal, a manutenção de quase 50% de cesarianas e a não expansão da puericultura após o primeiro ano de vida. CONCLUSÕES: Estimativas sobre a evolução da assistência materno-infantil no conjunto das áreas urbanas do País em período semelhante confirma e acentua o desempenho insatisfatório da assistência pré-natal na cidade de São Paulo. Comparações favoráveis a São Paulo são registradas apenas quanto a cobertura vacinal. A influência que mudanças na assistência materno-infantil podem ter exercido sobre a evolução de diferentes indicadores do estado de saúde das crianças da cidade é examinada em artigos subseqüentes.

Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas: clinical, pathologic, and MRI findings.

Science.gov (United States)

Nakamoto, Yuya; Yamato, Osamu; Uchida, Kazuyuki; Nibe, Kazumi; Tamura, Shinji; Ozawa, Tsuyoshi; Ueoka, Naotami; Nukaya, Aya; Yabuki, Akira; Nakaichi, Munekazu

2011-01-01

Neuronal ceroid-lipofuscinosis (NCL) is a rare group of inherited neurodegenerative lysosomal storage diseases characterized histopathologically by the abnormal accumulation of ceroid- or lipofuscin-like lipopigments in neurons and other cells throughout the body. The present article describes the clinical, pathologic, and magnetic resonance imaging (MRI) findings of the NCL in three longhaired Chihuahuas between 16 mo and 24 mo of age. Clinical signs, including visual defects and behavioral abnormalities, started between 16 mo and 18 mo of age. Cranial MRI findings in all the dogs were characterized by diffuse severe dilation of the cerebral sulci, dilated fissures of diencephalons, midbrain, and cerebellum, and lateral ventricular enlargement, suggesting atrophy of the forebrain. As the most unusual feature, diffuse meningeal thickening was observed over the entire cerebrum, which was strongly enhanced on contrast T1-weighted images. The dogs' conditions progressed until they each died subsequent to continued neurologic deterioration between 23 mo and 24 mo of age. Histopathologically, there was severe to moderate neuronal cell loss with diffuse astrogliosis throughout the brain. The remaining neuronal cells showed intracytoplasmic accumulation of pale to slightly yellow lipopigments mimicking ceroid or lipofuscin. The thickened meninges consisted of the proliferation of connective tissues with abundant collagen fibers and mild infiltration of inflammatory cells suggesting neuroimmune hyperactivity. Although the etiology of this neuroimmune hyperactivity is not currently known, MRI findings such as meningeal thickening may be a useful diagnostic marker of this variant form of canine NCL.

Infantile acne treated with oral isotretinoin

DEFF Research Database (Denmark)

Miller, Iben Marie; Echeverría, Begoña; Torrelo, Antonio

2013-01-01

In contrast to adolescent acne, infantile acne (IA) is a rare condition with only a limited body of available literature. In this descriptive, retrospective study, we reviewed six cases from 2002 to 2010 treated with oral isotretinoin. The average age of onset was 6.16 months (range 0-21 mos......). Consistent with the previous, limited literature, we found predominantly boys are affected, a predilection for the cheeks, and a polymorphic inflammatory morphology. Two patients had a family history of acne. All cases were successfully and safely treated with oral isotretinoin. The suggested treatment...... of childhood acne is similar to that of adolescents (graded according to the severity of the skin disease and risk of scarring). Oral isotretinoin appears to be an effective and safe treatment for severe IA....

Los refuerzos positivos en el aula de infantil

OpenAIRE

Martínez Álvarez, Elena

2013-01-01

Este estudio ha sido realizado con el fin de analizar si el refuerzo positivo es un medio adecuado, o no para producir un mejor ambiente de trabajo en el aula de infantil, y si puede producir mejores resultados académicos, es decir, si puede mejorar el proceso de enseñanza – aprendizaje. Para poder contestar a esta cuestión vamos a analizar determinadas teorías e hipótesis relacionadas con este tema. Además vamos a poner en práctica una serie de actividades prácticas relacionadas con este ...

Maltrato infantil: normatividad y psicología forense

OpenAIRE

Gerardo A. Hernández M.; Ángela C. Tapias S.

2010-01-01

El presente trabajo documental, de carácter pedagógico, está dirigido a profesionales que trabajen con casos de maltrato infantil. Introduce al lector sobre la normatividad y las instituciones que se encargan de la protección y atención al menor maltratado, además de los instrumentos de evaluación psicológica forense utilizados. Se presenta el aporte de la psicología jurídica para probar el daño psicológico. Finalmente, se propone como plan de acción recurrir a mecanismos alternativos, menos ...

Effectiveness of propanolol for treatment of infantile haemangioma

DEFF Research Database (Denmark)

Andersen, Ida Gillberg; Rechnitzer, Catherine; Charabi, Birgitte

2014-01-01

INTRODUCTION: Infantile haemangiomas (IH) are the most common benign tumours in children. They are characterised by rapid growth during the first year of life followed by spontaneous regression during childhood. Indications for treatment are functional impairment, bleeding/ulceration, rapid growth...... and severe aesthetic risk. Recently, systemic treatment with propranolol has become the first-line therapy. The objective of this study was to assess the efficacy of propranolol in the treatment of IH and to investigate whether treatment with a low dose of 1 mg/kg/day was sufficient. MATERIAL AND METHODS...... large residual changes. FUNDING: not relevant. TRIAL REGISTRATION: not relevant....

Short term effect of vigabatrin in infantile spasms

OpenAIRE

Pozo Alonso, Albia J.; Pozo Lauzán, Desiderio; Cordero López, Girelda

2007-01-01

El objetivo de este trabajo fue valorar el efecto a corto plazo de la vigabatrina en 18 pacientes con el diagnóstico de espasmos infantiles. Trece pacientes fueron tratados en monoterapia, y 6 de ellos de primera intención. La dosis máxima promedio utilizada de vigabatrina fue de 130 mg/ (kg∙día) (rango de 75 a 170 mg/ [kg∙día]). Los espasmos epilépticos cesaron en el 44,4 % de los casos a los 18,4 días como promedio tras el inicio del tratamiento con vigabatrina (rango de 3 a 43 ...

An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report.

Science.gov (United States)

Eypper, Elizabeth H; Lee, Johnson C; Tarasen, Ashley J; Weinberg, Maxene H; Adetayo, Oluwaseun A

2018-01-01

Objective: Infantile digital fibromatosis is a rare benign childhood tumor, infrequently cited in the literature. Hallmarks include nodular growths exclusive to fingers and toes and the presence of eosinophilic cytoplasmic inclusions on histology. This article aims to exemplify diagnoses of infantile digital fibromatosis and possible treatment options. Methods: A computerized English literature search was performed in the PubMed/MEDLINE database using MeSH headings "infantile," "juvenile," "digital," and "fibromatosis." Twenty electronic publications were selected and their clinical and histological data recorded and used to compile a treatment algorithm. Results: A 9-month-old male child was referred for a persistent, symptomatic nodule on the third left toe. A direct excision with Brunner-type incisions was performed under general anesthesia. The procedure was successful without complications. The patient has no recurrence at 2 years postsurgery and continues to be followed. Histological examination revealed a proliferation of bland, uniformly plump spindle cells with elongated nuclei and small central nucleoli without paranuclear inclusions consistent with fibromatosis. Conclusions: Asymptomatic nodules should be observed for spontaneous regression or treated with nonsurgical techniques such as chemotherapeutic or steroid injection. Surgical removal should be reserved for cases with structural or functional compromise.

Rede social de apoio ao desenvolvimento infantil segundo a equipe de saúde da família

Directory of Open Access Journals (Sweden)

Ana Paula Dezoti

2013-09-01

Full Text Available O objetivo deste estudo foi identificar as redes sociais de apoio às famílias para a promoção do desenvolvimento infantil na perspectiva da equipe Estratégia Saúde da Família. MÉTODOS: Pesquisa qualitativa descritiva. Foram sujeitos doze profissionais de saúde, sendo três de cada categoria profissional: enfermeiro, médico, auxiliar de enfermagem e agente comunitário de saúde que atuam nas unidades de saúde do estudo. Os dados foram coletados por meio de entrevista semiestruturada e analisados segundo análise categorial temática. RESULTADOS: Os resultados evidenciaram três categorias empíricas: Elementos da rede social de apoio; Funções de apoio às famílias; Dificuldades e lacunas na rede social de apoio às famílias. CONCLUSÃO: Considera-se que as redes sociais têm importante papel na vinculação das famílias, fortalecendo seu potencial para o desenvolvimento infantil saudável. Recomenda-se que os profissionais de saúde articulem ações que possam influenciar esses elementos de maneira que promovam o desenvolvimento infantil adequado.

EDUCAÇÃO INFANTIL, CURRÍCULO E SABERES DOCENTES: PERCURSOS DE UMA PESQUISA-AÇÃO

Directory of Open Access Journals (Sweden)

Elaine Luciana Silva Sobral

2011-03-01

Full Text Available Apresentamos os processos, percursos e achados de uma pesquisa-ação que teve como objetivos: investigar saberes docentes necessários ao desenvolvimento de uma proposta curricular numa instituição pública de educação infantil e contribuir para a (re significação, por parte de professores, de saberes necessários à construção de uma proposta curricular para a educação infantil. Com a participação de 19 sujeitos desenvolvemos observações não-participantes; entrevistas semi-estruturadas (individuais e coletivas; análise de documentos e seminários de estudos reflexivos. Analisamos duas categorias: 1 Saberes docentes relativos às concepções de currículo/proposta curricular e 2 Saberes docentes relativos às especificidades da educação infantil. Percebemos avanços no que se refere à (resignificação de tais saberes por parte dos sujeitos, configurando rupturas importantes com suas concepções iniciais. Apontamos para a necessidade de um trabalho de formação permanente, no contexto da instituição, de modo a propiciar o diálogo entre as práticas pedagógicas e as propostas curriculares.

LOS SERVICIOS DE CUIDADO INFANTIL EN AMÉRICA LATINA Y EL CARIBE

Directory of Open Access Journals (Sweden)

María Caridad Araujo

2015-01-01

Full Text Available Los servicios de cuidado infantil para niños menores de cuatro años de edad han expandido su cobertura de forma importante en América Latina y el Caribe. Esta expansión ha buscado primordialmente facilitar el acceso de las mujeres al mercado laboral. El énfasis en la calidad de los servicios de cuidado durante los primeros años de la vida es fundamental. Este artículo sistematiza información sobre el diseño, la gestión, el financiamiento y la calidad de los servicios de cuidado infantil en la región. Entre sus principales hallazgos se encuentran los siguientes: i existe evidencia de una inconsistencia entre el objetivo que mayoritariamente declaran perseguir estos programas —el desarrollo infantil integral— y el diseño de los servicios que brindan; ii los programas que dependen de los municipios se destacan por tener mejores variables estructurales (asociadas, en general, con una mejor calidad del servicio, en comparación con aquellos de escala nacional, así como por un mayor nivel de inversión por niño atendido; y iii existe variabilidad en el costo unitario de atención, lo cual es consistente no sólo con una considerable heterogeneidad en el servicio sino también con diferencias en el costo-efectividad de distintos modelos de provisión y de gestión. Asegurar servicios de cuidado de calidad para todos los niños que acuden a ellos y garantizar que la oferta pública de estos servicios alcance a los niños de las familias más pobres son dos prioridades importantes y todavía pendientes en la agenda de la política social regional.

Trabajo infantil y problemas del comportamiento en menores trabajadores

OpenAIRE

Cardenas Ramirez, Luz Stella

2016-01-01

Objetivo: Identificar la relación de los factores de riesgo ocupacional del trabajo infantil con los problemas de comportamiento en menores de edad trabajadores de una plaza de mercado en Colombia Materiales y métodos: Se realizó un estudio de corte transversal con 100 niños trabajadores de la plaza de Mercaneiva. Se aplicó un cuestionario para evaluar los factores ocupacionales en la población, evaluando aspectos sociodemográficos y condiciones laborales; para establecer la prevalencia d...

¿UNO DE CADA CINCO?: VICTIMIZACIÓN SEXUAL INFANTIL EN ESPAÑA

Directory of Open Access Journals (Sweden)

Noemí Pereda

2016-05-01

Full Text Available Si bien la extensión de la victimización sexual infantil sigue siendo un tema de controversia, numerosos estudios internacionales confirman que se trata de un problema altamente frecuente, que afecta a un importante porcentaje de la población. El objetivo de esta revisión es presentar aquellos trabajos publicados en España sobre la epidemiología de esta problemática. Para ello, los trabajos se han clasificado en estudios de incidencia, estudios retrospectivos de prevalencia y estudios con muestras de menores. Los resultados indican que, a pesar de las voces contrarias a su reconocimiento, la victimización sexual infantil es muy frecuente, como se obtiene de las posibles víctimas mediante estudios de autoreporte. Como conclusión, se alerta a los profesionales que trabajan con niños y niñas de su papel en la detección y notificación de estos casos, así como se subraya la responsabilidad de la Administración en la subvención de estudios de alcance nacional

La prevención de la obesidad infantil desde una perspectiva comunitaria

Directory of Open Access Journals (Sweden)

Carles Ariza

2015-04-01

Full Text Available El porcentaje de fracasos y recaídas en el tratamiento de la obesidad es alto. Siempre que sea posible, la prevención de la obesidad para modificar hábitos alimentarios y estilos de vida ha de ser la conducta preferente. Este trabajo pretender ofrecer un marco de evidencia sobre los componentes más efectivos de las intervenciones para el abordaje de la obesidad infantil, tanto de su prevención como de su reducción, cuando esta ya está instaurada. A partir de la literatura científica, se presentan los aspectos que debe contemplar la prevención, tanto universal como selectiva, de la obesidad infantil. Habida cuenta también de la controversia sobre los instrumentos de registro y control del problema, se aportan algunos criterios clarificadores. Finalmente, se diferencia el abordaje de la prevención del sobrepeso y la obesidad con una perspectiva comunitaria, ofreciéndose 2 protocolos breves que esquematizan un procedimiento básico a seguir.

Problemas externalizantes e agressividade infantil: uma revisão de estudos brasileiros

Directory of Open Access Journals (Sweden)

Taiane Lins

2012-01-01

Full Text Available Problemas de exteriorizar conductas y de agresividad pueden conducir a dificultades de adaptación y sufrimiento en la infancia y en las etapas posteriores. Varios factores se han vinculado a estos patrones de comportamiento. Se realizó estudio bibliográfico de artículos completos publicados en Brasil que se refieren a estudios empíricos brasileños, de 2000 a 2010, en las bases de datos SciELO Brasil, PePSIC, LILACS, IndexPsi y MEDLINE. Se evaluaron los resultados presentados en 30 artículos seleccionados en siete categorías: prácticas educativas y habilidades parentales, características familiares, características de los niños, exposición a modelos de comportamiento violento, programas de intervención de los padres, exteriorización de quejas y otros. Se concluye que estos estudios han contribuido a la identificación de predictores de problemas de exteriorización/agresividad infantil, investigando, principalmente, factores relacionados con características infantiles y prácticas educativas de los padres.

Análisis de la narrativa infantil escrita por mujeres (1920-1939

Directory of Open Access Journals (Sweden)

Francisca Sánchez-Pinilla

2012-01-01

Full Text Available Nuestro trabajo aborda el estudio de un corpus de cuentos infantiles publicados por mujeres en la prensa nacional de adultos entre 1920 y 1939. Son sus objetivos: hacer visible esa producción; analizar las diferentes propuestas estéticas e ideológicas formalizadas en esta escritura y reinsertar esta producción artística en el sistema literario en el que se produjo, ya que nace dentro de éste y son las circunstancias históricas posteriores las que lo aíslan y lo convierten en una escritura menor. La visibilización de la escritura femenina infantil para niños se constituye en tres fases: autoras que publican en el último tercio del siglo XIX; autoras que publican entre 1900 y 1920 y autoras que escriben entre 1920 y 1939. Los ámbitos para los que estas mujeres producen son el escolar, el familiar, el asociativo, el editorial, la ilustración gráfica, y la prensa escrita.

Maltrato infanto juvenil en discapacitados cognitivos Infantile-juvenile ill-treatment in cognitive handicapped

Directory of Open Access Journals (Sweden)

Nadieska Benítez Gort

2010-06-01

Full Text Available El maltrato infantil es uno de los temas más álgidos dentro de la práctica médica pediátrica; si a esto se le suma la condición de discapacidad cognitiva que convierte a niños y adolescentes en población más expuesta y menos apta para identificarlo y defenderse, se estaría tratando un problema médico de alta complejidad. Es importante el conocimiento de este tema en el personal de salud más cercano a la familia, lo que puede contribuir a la disminución de la frecuencia del maltrato y a reducir el tiempo de daño al niño o adolescente. Todo lo anterior puede evitar que estos pequeños sean mal diagnosticados y mal tratados a punto de partida de la desorganización conductual y emocional que en ellos pueden aparecer secundarios al maltrato, muchas veces inexplicables para padres y médicos. Es importante poner a disposición de los especialistas de la atención primaria y personal de salud comunitario, algunos apuntes sobre las particularidades del maltrato infantil en niños y adolescentes con necesidades cognitivas especiales, sus causas, tipos y consecuencias más frecuentes para su salud mental. El maltrato infanto juvenil en discapacitados cognitivos no es probablemente infrecuente en las comunidades y sí quizás poco identificado. La capacidad del personal de salud para encontrarlo siempre será oportuna y salvadora, de ahí la necesidad de conocimientos sobre el tema.The infantile ill-treatment is one of the more inhuman subjects in the pediatric medical practice and if to this feature we added the cognitive inability status converting children and adolescents into a more exposed and less able population to identify it and to defend itself, this will becomes in very complex medical problem. It is important the knowledge of this subject by health staff nearest of family, contributing to decrease of ill-treatment frequency and reducing the damage time to child or adolescent. The above mentioned may to avoid that these little

METÁFORAS DE LA TRANSICIÓN: LA RELACIÓN ENTRE LA ESCUELA INFANTIL Y LA ESCUELA PRIMARIA Y LA PERSPECTIVA DE FUTUROS DOCENTES DE EDUCACIÓN INFANTIL

Directory of Open Access Journals (Sweden)

Javier Argos González

2011-01-01

Full Text Available La transición entre etapas educativas y, en particular la que se realiza entre la Educación Infantil y la Educación Primaria, resulta un elemento clave y un reto para el adecuado desarrollo y aprendizaje de los alumnos. En el presente trabajo realizamos un acercamiento a la perspectiva que tienen estudiantes de Magisterio de Educación Infantil en relación con la continuidad entre las referidas etapas, a partir de la experiencia en su primer año de prácticas en centros educativos. Nuestro análisis se sustenta en las observaciones, reflexiones y argumentaciones efectuadas por los estudiantes en relación con cuestiones que, en torno a la continuidad, les planteamos al iniciar sus prácticas educativas, así como en las metáforas con las que sintetizaban su perspectiva al respecto. Los resultados constatan una cierta disfunción entre la importancia otorgada a la continuidad en los centros y sus prácticas cotidianas. De lo anterior se desprende la necesidad de instaurar en los centros propuestas armonizadas que faciliten una adecuada transición entre etapas.

La educación para la salud a través de series de televisión infantiles

OpenAIRE

Navío Candelas, Ángeles

2012-01-01

Este trabajo pretende dar una visión del panorama televisivo español en series infantiles que presentan un alto contenido en relación con la promoción de la educación para la salud. Los niños y niñas que se encuentran en la etapa de Educación Infantil aprenden por imitación, en muchos casos de sus personajes de series favoritos, esto puede suponer una amenaza o bien una oportunidad para la adquisición de hábitos y costumbres saludables. En una realidad sociosanitaria en la que son prota...

INTERFACES ENTRE DESENHO E LETRAMENTO NA EDUCAÇÃO INFANTIL: CONTRIBUIÇÕES DA TEORIA HISTÓRICO-CULTURAL

OpenAIRE

Leite, Aline Cristina de Castro Garcia

2016-01-01

Esta pesquisa teve como objetivo analisar as práticas e concepções de professores da Educação Infantil acerca da utilização do desenho como ferramenta de ensino e como forma de inserção das crianças no letramento. Teve como pressuposto a concepção de Educação Infantil como possibilitadora de acesso à criança aos conhecimentos sistematizados, contemplando as necessidades físicas, motoras, cognitivas, afetivas e emocionais da criança. Algumas questões deram origem à proposição de...

El bienestar infantil: Propuesta de Intervención para prevenir el maltrato mediante el desarrollo de habilidades socioemocionales

OpenAIRE

Sanz Villarreal, Elena

2016-01-01

El maltrato infantil es un problema social que afecta a niños y niñas de todos los países del mundo, sea cual sea su condición social o económica. La cultura de la violencia está globalizada e influye en todos los ámbitos de la vida. En nuestra sociedad, los menores destacan por su vulnerabilidad: los mismos adultos que deberían protegerles, son los responsables de su maltrato. En este trabajo se realiza un acercamiento al maltrato infantil para sensibilizar a los docentes, dotándoles de estr...

El esgrafiado: una técnica artística que se puede trabajar en Educación Infantil

OpenAIRE

Moreno Lorente, Sara

2013-01-01

En el presente trabajo se lleva a cabo una investigación cualitativa en un centro de Educación Infantil y Primaria en la provincia de Segovia. Para llevar a cabo este trabajo del esgrafiado en Educación Infantil es muy importante la observación, la producción y la interpretación de los esgrafiados, tanto los que yo les muestre a los niños como los elaborados por ellos. Todas las actividades están dentro de un contexto interdisciplinar de forma que los niños aprenden educación artística, psic...

La administración del cuerpo infantil en el s. XVIII: una lectura sobre el inicio de la ortopedia infantil

OpenAIRE

Yutzis, Daniela

2009-01-01

A partir de la lectura de una fuente primaria, el texto de Andry L’orthopédie ou l’art de prevenir et corriger dans les enfans, les difformités du corps el trabajo se centra en una lectura histórico-política del inicio de la ortopedia infantil en Francia del siglo XVIII. Esta investigación en el recorrido de las pedagogías de la postura aborda el ajuste de la arquitectura corporal de la anatomía del cuerpo que recorre estéticas y políticas que mantienen el interés por la rectitud corporal. El...

Tendencia de la prevalencia de la obesidad infantil y adolescente en Oviedo durante las décadas 1992-2012

OpenAIRE

Llada Suárez, Rubén

2014-01-01

Los últimos cálculos de la Organización Mundial de la Salud, OMS (2012) estiman que la obesidad ha alcanzado proporciones epidémicas a nivel mundial, existiendo consenso internacional en considerar que la obesidad infantil es uno de los problemas de salud pública más graves del siglo XXI. La obesidad infantil tiene importantes repercusiones sobre la calidad de vida del niño acarreando múltiples comorbilidades si persiste en la edad adulta. Entre las principales patologías asociadas a la o...

Iniciación al estudio de las matemáticas de las cantidades en la Educación Infantil

OpenAIRE

De Castro Hernández, Carlos; Pastor Llamas, Clara; Pina Plaza, Lidia Cayetana; Rojas Díez, María Isabel; Escorial González, Beatriz

2009-01-01

Para estudiar cómo es el inicio del aprendizaje de las ‘matemáticas de las cantidades’, hemos desarrollado una experiencia con 64 alumnos de 4 y 5 años, pertenecientes a tres grupos de Educación Infantil. Durante 5 semanas trabajamos, partiendo de literatura infantil, en un taller de resolución de problemas inmersos en una situación de comunicación. Los problemas eran planteados por una persona cercana. Los niños, tras emplear diversas estrategias informales de modelización directa, a través ...

Trabajo y salud de las docentes de la Universidad Nacional de Córdoba: uso de medicamentos/sustancias lícitas y plan materno infantil Trabalho e saúde das docentes da Universidade Nacional de Córdoba: uso de medicamentos/substâncias lícitas e plano materno infantil Work and health of the Cordoba National University teachers: medicaments/legal drugs use and infantile-maternal plan

Directory of Open Access Journals (Sweden)

Marta Susana Giacone

2004-04-01

Full Text Available Este trabajo tuvo como objetivo investigar condiciones de existencia, proceso de trabajo y salud y consumo de medicamentos de docentes universitarias en edad reproductiva. Además, intentó conocer uso, opiniones y sugerencias de usuarias del Plan Materno Infantil de la Obra Social Universitaria. El estudio se encaminó desde la perspectiva teórico-metodológica del materialismo histórico y dialéctico, se delineó como investigación social desarrollada a través de un estudio de campo descriptivo-correlativo e estratégico en una muestra total de 50 personas. Los resultados indican presencia de condiciones de existencia y trabajo deterioradas, afectando el perfil de salud de las docentes y el consumo de medicamentos. Alto porcentaje de las entrevistadas consideró el Plan Materno Infantil muy bueno o bueno y enfatizó la necesidad de mejor información a cerca de ella.Este trabalho teve como objetivo investigar condições de existência, processo de trabalho e saúde e consumo de medicamentos de docentes universitárias em idade reprodutiva. Além disso, buscou conhecer uso, opiniões e sugestões de usuárias do Plano Materno Infantil da Obra Social Universitária. O estudo encaminhou-se pela perspectiva teórico-metodológica do materialismo histórico e dialético, delineou-se como investigação social desenvolvida por um estudo de campo descritivo-correlativo e estratégico, em uma mostra total de 50 pessoas. Os resultados indicam presença de condições de existência e trabalho deterioradas, afetando o perfil de saúde das docentes e o consumo de medicamentos. Alta porcentagem das entrevistadas considerou o Plano Materno Infantil bom ou muito bom e enfatizou a necessidade de melhor informação sobre ele.This study aimed to investigate university teachers in reproductive age' life conditions, work and health process and medicaments use. Beside, aimed research the use, opinions and suggestions of Infantile-Maternal Plan of the

Monocular and binocular development in children with albinism, infantile nystagmus syndrome, and normal vision

NARCIS (Netherlands)

Huurneman, B.; Boonstra, F.N.

2013-01-01

Abstract Background/aims: To compare interocular acuity differences, crowding ratios, and binocular summation ratios in 4- to 8-year-old children with albinism (n = 16), children with infantile nystagmus syndrome (n = 10), and children with normal vision (n = 72). Methods: Interocular acuity

Rarity of the Alzheimer Disease–Protective APP A673T Variant in the United States

Science.gov (United States)

Wang, Li-San; Naj, Adam C.; Graham, Robert R.; Crane, Paul K.; Kunkle, Brian W.; Cruchaga, Carlos; Gonzalez Murcia, Josue D.; Cannon-Albright, Lisa; Baldwin, Clinton T.; Zetterberg, Henrik; Blennow, Kaj; Kukull, Walter A.; Faber, Kelley M.; Schupf, Nicole; Norton, Maria C.; Tschanz, JoAnn T.; Munger, Ronald G.; Corcoran, Christopher D.; Rogaeva, Ekaterina; Lin, Chiao-Feng; Dombroski, Beth A.; Cantwell, Laura B.; Partch, Amanda; Valladares, Otto; Hakonarson, Hakon; St George-Hyslop, Peter; Green, Robert C.; Goate, Alison M.; Foroud, Tatiana M.; Carney, Regina M.; Larson, Eric B.; Behrens, Timothy W.; Kauwe, John S. K.; Haines, Jonathan L.; Farrer, Lindsay A.; Pericak-Vance, Margaret A.; Mayeux, Richard; Schellenberg, Gerard D.

2015-01-01

IMPORTANCE Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States. OBJECTIVE To determine the frequency of the APP A673T variant in a large group of elderly cognitively normal controls and AD cases from the United States and in 2 case-control cohorts from Sweden. DESIGN, SETTING, AND PARTICIPANTS Case-control association analysis of variant APP A673T in US and Swedish white individuals comparing AD cases with cognitively intact elderly controls. Participants were ascertained at multiple university-associated medical centers and clinics across the United States and Sweden by study-specific sampling methods. They were from case-control studies, community-based prospective cohort studies, and studies that ascertained multiplex families from multiple sources. MAIN OUTCOMES AND MEASURES Genotypes for the APP A673T variant were determined using the Infinium HumanExome V1 Beadchip (Illumina, Inc) and by TaqMan genotyping (Life Technologies). RESULTS The A673T variant genotypes were evaluated in 8943 US AD cases, 10 480 US cognitively normal controls, 862 Swedish AD cases, and 707 Swedish cognitively normal controls. We identified 3 US individuals heterozygous for A673T, including 1 AD case (age at onset, 89 years) and 2 controls (age at last examination, 82 and 77 years). The remaining US samples were homozygous for the alanine (A673) allele. In the Swedish samples, 3 controls were heterozygous for A673T and all AD cases were homozygous for the A673 allele. We also genotyped a US family previously reported to harbor the A673T variant and found a mother-daughter pair, both

Product Variant Master as a Means to Handle Variant Design

DEFF Research Database (Denmark)

Hildre, Hans Petter; Mortensen, Niels Henrik; Andreasen, Mogens Myrup

1996-01-01

be implemented in the CAD system I-DEAS. A precondition for high degree of computer support is identification of a product variant master from which new variants can be derived. This class platform defines how a product build up fit certain production methods and rules governing determination of modules...

Estudio transversal de los determinantes del trabajo infantil en Cartagena, año 2007

Directory of Open Access Journals (Sweden)

Karina Acevedo

2011-01-01

Full Text Available El trabajo infantil constituye una problemática compleja que tiene importantes repercusiones en las reservas de capital humano, en la salud de los niños y niñas, y en la persistencia de la pobreza. Nuestro principal objetivo en este artículo es dilucidar sus determinantes en la ciudad de Cartagena a través de la estimación de un modelo probit bivariado, con el cual analizamos conjuntamente las decisiones de trabajo y de asistencia escolar. Los resultados muestran que el trabajo infantil y la asistencia escolar son actividades excluyentes, siendo los determinantes más robustos de estas decisiones la educación del jefe de hogar, y la pobreza. Entre otros determinantes se encuentran las restricciones crediticias, la proximidad física a las escuelas y la tasa de ocupación de las personas adultas.

Mejora de la calidad de la dieta y del estado nutricional en población infantil mediante un programa innovador de educación nutricional: INFADIMED

OpenAIRE

Maria del Mar Bibiloni; Jordi Fernández-Blanco; Noemí Pujol-Plana; Núria Martín-Galindo; Maria Mercè Fernández-Vallejo; Mariona Roca-Domingo; Juan Chamorro-Medina; Josep A. Tur

2017-01-01

Objetivo: Evaluar los resultados de un programa de educación nutricional desarrollado con recursos locales para mejorar la calidad de la dieta y reducir la prevalencia de sobrepeso y obesidad en la población infantil. Método: Estudio longitudinal de intervención por educación nutricional (INFADIMED) en población infantil (3-7 años) de Vilafranca del Penedès (Barcelona) reclutada en centros de educación infantil y primaria, con grupo de intervención o INFADIMED (n = 319; 50,2% niñas) y grup...

Diffusion, Perfusion, and Histopathologic Characteristics of Desmoplastic Infantile Ganglioglioma.

Science.gov (United States)

Ho, Chang Y; Gener, Melissa; Bonnin, Jose; Kralik, Stephen F

2016-07-01

We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review.

Encuadrando corazones: el encuadre arteterapeutico en el hospital infantil

OpenAIRE

Cock Moncada, Adriana

2013-01-01

El presente trabajo de investigación, pretende reflexionar acerca de las dificultades que existen al interior de un hospital infantil para establecer un encuadre arteterapéutico adecuado. Así mismo, trata de dar cuenta de los ajustes que se pueden realizar en la intervención arteterapéutica con relación al encuadre, para conseguir crear un espacio de creatividad saludable que ayude a mejorar la calidad de vida de los niños y niñas hospitalizados. Finalmente, intenta arrojar una luz para futur...

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

Science.gov (United States)

Walus, Mariusz; Kida, Elizabeth; Golabek, Adam A

2010-06-01

There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). To elucidate the molecular mechanisms underlying TPPI deficiency in patients carrying missense mutations and to test the amenability of mutant proteins to chemical chaperones and permissive temperature treatment, we introduced individually 14 disease-associated missense mutations into human TPP1 cDNA and analyzed the cell biology of these TPPI variants expressed in Chinese hamster ovary cells. Most TPPI variants displayed obstructed transport to the lysosomes, prolonged half-life of the proenzyme, and residual or no enzymatic activity, indicating folding abnormalities. Protein misfolding was produced by mutations located in both the prosegment (p.Gly77Arg) and throughout the length of the mature enzyme. However, the routes of removal of misfolded proteins by the cells varied, ranging from their efficient degradation by the ubiquitin/proteasome system to abundant secretion. Two TPPI variants demonstrated enhanced processing in response to folding improvement treatment, and the activity of one of them, p.Arg447His, showed a fivefold increase under permissive temperature conditions, which suggests that folding improvement strategies may ameliorate the function of some misfolding TPPI mutant proteins.

Selection of salt-tolerant variant of wheat in vitro

International Nuclear Information System (INIS)

Zheng, Q.; Zhu, Y.; Chen, W.; Tang, X.

1990-01-01

Full text: Growing-tip explants of four winter wheat varieties were cultured on basal medium supplemented with 2,4-D 2mg/l and various NaCI concentrations. The calli derived from 'Nongda 139' growing-tips were subcultured on the medium salinized with 0.4% NaCI for one year. Then they were cultured on a medium serially salinised with NaCI, increasing by 0.4% steps until 2%. Finally, surviving calli were transferred to a medium containing 0.4% NaCI for regeneration. 21 plants were obtained among which 3 were sterile. Dwarf, late ripening, shrunken grains and spike shape variations were observed, but they were non-heritable except dwarf and spike shape. Some potential NaCI-tolerant variants were identified. (author)

Gestão Democrática e Participação Familiar no Âmbito da Educação Infantil

Directory of Open Access Journals (Sweden)

Bianca Cristina Côrrea

2007-06-01

Full Text Available The present work presents reflections concerning democratic administration and family participation in the infantile education that were part of my Dissertation of Master's degree. The main objective of the research was to observe existent practices or potentials of participation of the families in the infantile education. The work incuded as the bibliographical research as field research, this last one accomplished along one year in municipal school of infantile education (EMEI in the city of São Paulo that assists children from 4 to 6 years. The results of the research indicated that, although there was effort on the part of the professionals of the school in accomplishing a quality work to involve the participation of the families, also counted with institutionalized mechanisms of participation and adopted other actions to promote it, it lacked speakers to discuss its practice heading to the wanted objectives.

Brechas regionales de la mortalidad infantil en Colombia

Directory of Open Access Journals (Sweden)

Marta C Jaramillo-Mejía

Full Text Available Objetivos. Estudiar las variaciones de la tasa de mortalidad infantil (TMI en los departamentos de Colombia durante el período 2003-2009, examinar la persistencia de las variaciones entre los departamentos sobre el tiempo y relacionarlas con el impacto de las condiciones socioeconómicas y la disponibilidad de servicios de salud, sobre la mortalidad infantil. Materiales y métodos. Utilizando estadísticas vitales y relacionando datos socioeconómicos y de servicios de salud, se analizaron tres aspectos: la variación de la TMI departamental (2003-2009, la relación entre la TMI departamental y determinantes claves en el tiempo, y las líneas de causalidad e impacto relativo de los diferentes factores. Se emplearan ecuaciones estructurales. Resultados. Se encontró una razón de 4,7 entre la mayor y menor TMI departamental (2009, esta podría estar subestimada principalmente por el subregistros en departamentos de bajos ingresos. Hay una relación negativa entre la TMI departamental con el tiempo y variables altamente correlacionadas, como educación de la madre, ingreso per cápita, cobertura de aseguramiento y acceso a servicios. Conclusiones. El efecto del aseguramiento, disponibilidad de camas privadas y atención médica, es superior al impacto de mejores condiciones socioeconómicas sobre la TMI. La oferta de servicios no parece estar influenciada por una política racional, los recursos no se asignan de acuerdo con las necesidades, sino con el desarrollo general. Las camas privadas se hacen disponibles donde hay mejor aseguramiento en salud y menor TMI

Brechas regionales de la mortalidad infantil en Colombia

Directory of Open Access Journals (Sweden)

Marta C. Jaramillo-Mejía

2013-12-01

Full Text Available Objetivos. Estudiar las variaciones de la tasa de mortalidad infantil (TMI en los departamentos de Colombia durante el período 2003-2009, examinar la persistencia de las variaciones entre los departamentos sobre el tiempo y relacionarlas con el impacto de las condiciones socioeconómicas y la disponibilidad de servicios de salud, sobre la mortalidad infantil. Materiales y métodos. Utilizando estadísticas vitales y relacionando datos socioeconómicos y de servicios de salud, se analizaron tres aspectos: la variación de la TMI departamental (2003-2009, la relación entre la TMI departamental y determinantes claves en el tiempo, y las líneas de causalidad e impacto relativo de los diferentes factores. Se emplearan ecuaciones estructurales. Resultados. Se encontró una razón de 4,7 entre la mayor y menor TMI departamental (2009, esta podría estar subestimada principalmente por el subregistros en departamentos de bajos ingresos. Hay una relación negativa entre la TMI departamental con el tiempo y variables altamente correlacionadas, como educación de la madre, ingreso per cápita, cobertura de aseguramiento y acceso a servicios. Conclusiones. El efecto del aseguramiento, disponibilidad de camas privadas y atención médica, es superior al impacto de mejores condiciones socioeconómicas sobre la TMI. La oferta de servicios no parece estar influenciada por una política racional, los recursos no se asignan de acuerdo con las necesidades, sino con el desarrollo general. Las camas privadas se hacen disponibles donde hay mejor aseguramiento en salud y menor TMI

Smoking during pregnancy and infantile colic

DEFF Research Database (Denmark)

Søndergaard, Charlotte; Henriksen, Tine Brink; Obel, Carsten

2001-01-01

during this period. Adjustment for maternal age, parity, marital status, alcohol intake, birth weight, gestational age, breastfeeding, caffeine intake postpartum, and paternal smoking did not change the effect measures. Conclusion. The results indicate that maternal smoking during pregnancy may increase......Objective. To evaluate the association between maternal smoking during pregnancy and infantile colic (IC). Methods. A follow-up study of singleton infants delivered by Danish mothers at the Aarhus University Hospital from May 1991 to February 1992 and still living in the municipality of Aarhus...... questionnaire and based on Wessel's criteria, except that we used only the crying criterion. Results. IC was seen in 10.8% of all infants. We observed a twofold increased risk of IC among infants whose mothers smoked 15 or more cigarettes per day during their pregnancy(relative risk: 2.1; 95% confidence...

Tecnologia simplificada na enfermagem materno infantil

Directory of Open Access Journals (Sweden)

Selma Campestrini

1991-09-01

Full Text Available A autora apresenta três modelos de tecnologia simplificada da enfermagem materno infantil: o equipamento didático SEIO COBAIA para treinar exercícios e massagens da mama e mamilo; a peça indumentária SUPRETRAUMA - sutiã preventivo de traumatismo mamilar - usado por gestantes; e, a técnica para reverter mamilo umbilicado durante o puerperio imediato. Além de corroborar na promoção do aleitamento materno e na prevenção de desmame precoce, demonstra a possibilidade da enfermagem relacionar o saber teórico-científico com o saber tecnico-prático, na saúde da mulher e da criança, com tecnologia adequada às necessidades, à compreensão e ao bem estar da população.