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Sample records for abnormalities growth retardation

  1. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality

    SciTech Connect

    Migliori, M.V.; Pettinari, A.; Cherubini, V.; Bartolotta, E.; Pecora, R.

    1994-01-01

    The authors report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either the short or long arm of chromosome 5 as a consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. 12 refs., 3 figs.

  2. Radiation-Induced Growth Retardation and Microstructural and Metabolite Abnormalities in the Hippocampus

    PubMed Central

    Zawaski, Janice A.; Sahnoune, Iman

    2016-01-01

    Cranial radiotherapy (CRT) increases survival in pediatric brain-tumor patients but can cause deleterious effects. This study evaluates the acute and long-term impact of CRT delivered during childhood/adolescence on the brain and body using a rodent model. Rats received CRT, either 4 Gy fractions × 5 d (fractionated) or a cumulative dose of 20 Gy (single dose) at 28 d of age. Animals were euthanized 1 d, 5 d, or 3.5 mo after CRT. The 3.5 mo group was imaged prior to euthanasia. At 3.5 mo, we observed significant growth retardation in irradiated animals, versus controls, and the effects of single dose on brain and body weights were more severe than fractionated. Acutely single dose significantly reduced body weight but increased brain weight, whereas fractionation significantly reduced brain but not body weights, versus controls. CRT suppressed cell proliferation in the hippocampal subgranular zone acutely. Fractional anisotropy (FA) in the fimbria was significantly lower in the single dose versus controls. Hippocampal metabolite levels were significantly altered in the single dose animals, reflecting a heightened state of inflammation that was absent in the fractionated. Our findings indicate that despite the differences in severity between the doses they both demonstrated an effect on cell proliferation and growth retardation, important factors in pediatric CRT. PMID:27242931

  3. Siblings with a syndrome of hydrocephalus with patent aqueduct, growth retardation and associated anomalies.

    PubMed

    Slee, J; Knowles, S; Goldblatt, J

    1999-01-01

    We report on male siblings with hydrocephalus with associated abnormalities including growth retardation, midline cleft palate and bilateral 'fisting' of the hands, providing evidence for a familial syndrome of hydrocephalus and associated anomalies. PMID:10327245

  4. Retardation of nanoparticles growth by doping

    NASA Astrophysics Data System (ADS)

    Nosenko, Valentyna; Rudko, Galyna; Fediv, Volodymyr; Savchuk, Andrij; Gule, Evgenij; Vorona, Igor

    2014-12-01

    The process of doping of CdS nanoparticles with Mn during colloidal synthesis is analyzed by EPR and optical studies. Analysis of EPR results demonstrated that Mn2+ ions are successfully incorporated into the nanoparticles and occupy the crystal sites both in the bulk of a NP and near the surface of a NP. Optical absorption measurements revealed the retardation of absorption edge shift during the growth for Mn-doped CdS NPs as compared to the undoped CdS NPs. It was concluded that the presence of Mn in the solution leads to the inhibition of NPs growth.

  5. Chromosomal abnormalities in mentally retarded children in the Konya region--Turkey.

    PubMed

    Cora, T; Demirel, S; Acar, A

    2000-01-01

    Etiology of mental retardation is diverse. 120 Students from 11 special training, education, and rehabilitation subclasses were investigated cytogenetically for determining the contribution of chromosomal abnormalities to mild mental retardation. 23 of the 120 children (19%) had chromosomal abnormalities: thirteen cases a classical trisomy 21 (the male:female ratio was 9:4), three a balanced autosomal reciprocal translocation, one a pericentric inversion of chromosome 9, and six fragile-X syndrome (The male:female ratio was 5:1). PMID:10756429

  6. [Intrauterine growth retardation and adult outcome].

    PubMed

    Lapillonne, Alexandre

    2011-03-01

    The epidemiologist David Barker was among the first to develop the concept that some adult diseases might have their origins during fetal life, based notably on a strong association between low birth weight and the risk of chronic diseases in adulthood (coronary artery disease, hypertension and stroke, type 2 diabetes, and osteoporosis). Several other groups replicated these results in other populations, thus confirming that birth weight is a determining factor of adult health. Intra-uterine growth retardation (IUGR) has been widely used as a marker of poor fetal nutrition and health, but some antenatal nutritional disturbances can increase the risk of diseases later in life without affecting fetal growth. The risk of diseases in adulthood appears to be further increased when IUGR is associated with rapid postnatal catch-up growth. This suggests that fetal malnutrition induces adaptations necessary for fetal survival and health, but that it also undermines future health if the postnatal environment is unfavorable. The fetal origins of adult diseases has major public health implications and calls for reinforced pre- and post-natal prevention strategies. PMID:22292298

  7. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

    PubMed Central

    Richieri-Costa, A; Garcia da Silva, S M; Frota-Pessoa, O

    1984-01-01

    Four sibs of non-consanguineous parents who had myotonia from late infancy are described. Mild to moderate mental retardation, severe bone abnormalities of the vertebral column (mainly in the thoracolumbar region), and short stature were also observed. Autosomal recessive inheritance is demonstrated. These cases are compared with reported cases of the Schwartz-Jampel syndrome. Images PMID:6716408

  8. Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages

    PubMed Central

    Behjati, Farkhondeh; Ghasemi Firouzabadi, Saghar; Kahrizi, Kimia; Kariminejad, Roxana; Bagherizadeh, Iman; Ansari, Javad; Fallah, Masoumeh; Mojtahedi, Forough; Darvish, Hossein; Bahrami Monajemi, Gholamreza; Abedini, S. Sedigheh; Jamali, Payman; Mojahedi, Faezeh; Zadeh-Vakili, Azita; Najmabadi, Hossein

    2011-01-01

    Introduction Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with positive family history for MR were investigated in the Genetics Research Center. Material and methods In the majority of families (92%) at least two sibs were affected with MR and none had specific chromosomal syndromes such as Down syndrome. Standard cytogenetic techniques using high resolution GTG banding were carried out on all the patients. Results The overall chromosome abnormality rate contributing to mental retardation was 1.24% (4 cases), which comprised 46,XY,der(18)t(4;18)(q31.1;q23)mat; 45,XY,-21,-22,+der(22)t(21;22)(q21.1;q13.33)mat; 46,XY,rec(2)dup(2p)inv(2)(p25.1q37.3)pat, and 46,XY,der(11)t(10;11)(q25.2;q25)pat. Conclusions Although the most likely genetic cause of mental retardation in patients with consanguineous parents is autosomal recessive, the fact that 1.24% of our patients had chromosomal abnormalities emphasizes the importance of cytogenetic investigation as the first laboratory genetic tests for all MR patients. To our knowledge, this is the first report on the rate of chromosome abnormality among patients with idiopathic mental retardation from consanguineous marriages. PMID:22291774

  9. Intrauterine growth retardation (IUGR): epidemiology and etiology.

    PubMed

    Romo, Agustín; Carceller, Raquel; Tobajas, Javier

    2009-02-01

    Intrauterine growth retardation (IUGR) is mainly due to a pathologic slow-down in the fetal growth pace, resulting in a fetus that is unable to reach its growth potential. IUGR frequency will vary depending on the discrimination criteria adopted. It is extremely important to use local or national fetal growth graphs in order to avoid some confounding factors. IUGR incidence in newborns would be between 3% and 7% of the total population. In our experience it is 5.13% a figure similar to the one obtained by other authors but with a progressively higher incidence during the last decade. There are multiple maternal factors that can generally be grouped into constitutional and general factors given that they affect age, weight, race, maternal cardiac volume, etc, socioeconomic factors with key incidence in the mother's nutrition level, where a poor maternal nutrition level would be the key factor in this group. We have evaluated multiple factors as possible contributors to the IUGR risk: race, parents' age, mother's height (cm), mother's birth weight and before pregnancy (kg), ponderal gain and blood pressure during pregnancy, and previous SGA newborns. Socioeconomic factors like social class, parents' profession, habitual residence, salary, immigration, and diet were also evaluated. We also included variables such as total daily working time and time mothers spent standing up, daily sleeping time (hrs), stress self-perception test at work and primiparity age. Toxic factors during pregnancy: tobacco (active and passive), alcohol, drugs and coffee consumption. Fetal or utero-placental factors were considered. In our study, the most significant etiologic factors were: Active and passive tobacco consuming, mother's stress level, increase of total months worked during pregnancy, total daily working hours and time mothers spent standing up and finally, the parent's height. Our data support the main objective of reducing the incidence of SGA newborns after IUGR by fighting

  10. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs

    PubMed Central

    Young, I D; Macrae, W G; Hughes, H E; Crawford, J S

    1982-01-01

    This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance. Images PMID:7143385

  11. Abnormal Grain Growth Suppression in Aluminum Alloys

    NASA Technical Reports Server (NTRS)

    Hales, Stephen J. (Inventor); Claytor, Harold Dale (Inventor); Alexa, Joel A. (Inventor)

    2015-01-01

    The present invention provides a process for suppressing abnormal grain growth in friction stir welded aluminum alloys by inserting an intermediate annealing treatment ("IAT") after the welding step on the article. The IAT may be followed by a solution heat treatment (SHT) on the article under effectively high solution heat treatment conditions. In at least some embodiments, a deformation step is conducted on the article under effective spin-forming deformation conditions or under effective superplastic deformation conditions. The invention further provides a welded article having suppressed abnormal grain growth, prepared by the process above. Preferably the article is characterized with greater than about 90% reduction in area fraction abnormal grain growth in any friction-stir-welded nugget.

  12. Abnormal mandibular growth and the condylar cartilage.

    PubMed

    Pirttiniemi, Pertti; Peltomäki, Timo; Müller, Lukas; Luder, Hans U

    2009-02-01

    Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular level. The aim of this review is to summarize recent progress in the understanding of pathological alterations occurring during childhood and adolescence that affect the temporomandibular joint (TMJ) and, hence, result in disorders of mandibular growth. Pathological conditions taken into account are subdivided into (1) congenital malformations with associated growth disorders, (2) primary growth disorders, and (3) acquired diseases or trauma with associated growth disorders. Among the congenital malformations, hemifacial microsomia (HFM) appears to be the principal syndrome entailing severe growth disturbances, whereas growth abnormalities occurring in conjunction with other craniofacial dysplasias seem far less prominent than could be anticipated based on their often disfiguring nature. Hemimandibular hyperplasia and elongation undoubtedly constitute the most obscure conditions that are associated with prominent, often unilateral, abnormalities of condylar, and mandibular growth. Finally, disturbances of mandibular growth as a result of juvenile idiopathic arthritis (JIA) and condylar fractures seem to be direct consequences of inflammatory and/or mechanical damage to the condylar cartilage. PMID:19164410

  13. Dynamic Abnormal Grain Growth in Molybdenum

    NASA Astrophysics Data System (ADS)

    Worthington, Daniel L.; Pedrazas, Nicholas A.; Noell, Philip J.; Taleff, Eric M.

    2013-11-01

    A new abnormal grain growth phenomenon that occurs only during continuous plastic straining, termed dynamic abnormal grain growth (DAGG), was observed in molybdenum (Mo) at elevated temperature. DAGG was produced in two commercial-purity molybdenum sheets and in a commercial-purity molybdenum wire. Single crystals, centimeters in length, were created in these materials through the DAGG process. DAGG was observed only at temperatures of 1713 K (1440 °C) and above and occurred across the range of strain rates investigated, ~10-5 to 10-4 s-1. DAGG initiates only after a critical plastic strain, which decreases with increasing temperature but is insensitive to strain rate. Following initiation of an abnormal grain, the rate of boundary migration during DAGG is on the order of 10 mm/min. This rapid growth provides a convenient means of producing large single crystals in the solid state. When significant normal grain growth occurs prior to DAGG, island grains result. DAGG was observed in sheet materials with two very different primary recrystallization textures. DAGG grains in Mo favor boundary growth along the tensile axis in a <110> direction, preferentially producing single crystals with orientations from an approximately <110> fiber family of orientations. A mechanism of boundary unpinning is proposed to explain the dependence of boundary migration on plastic straining during DAGG.

  14. Dynamic Abnormal Grain Growth in Refractory Metals

    NASA Astrophysics Data System (ADS)

    Noell, Philip J.; Taleff, Eric M.

    2015-11-01

    High-temperature plastic deformation of the body-centered cubic (BCC) refractory metals Mo and Ta can initiate and propagate abnormal grains at significantly lower temperatures and faster rates than is possible by static annealing alone. This discovery reveals a new and potentially important aspect of abnormal grain growth (AGG) phenomena. The process of AGG during plastic deformation at elevated temperatures, termed dynamic abnormal grain growth (DAGG), was observed at homologous temperatures between 0.52 and 0.72 in both Mo and Ta sheet materials; these temperatures are much lower than those for previous observations of AGG in these materials during static annealing. DAGG was used to repeatedly grow single crystals several centimeters in length. Investigations to date have produced a basic understanding of the conditions that lead to DAGG and how DAGG is affected by microstructure in BCC refractory metals. The current state of understanding for DAGG is reviewed in this paper. Attention is given to the roles of temperature, plastic strain, boundary mobility and preexisting microstructure. DAGG is considered for its potential useful applications in solid-state crystal growth and its possibly detrimental role in creating undesired abnormal grains during thermomechanical processing.

  15. Parsing abnormal grain growth in specialty aluminas

    NASA Astrophysics Data System (ADS)

    Lawrence, Abigail Kremer

    Grain growth in alumina is strongly affected by the impurities present in the material. Certain impurity elements are known to have characteristic effects on abnormal grain growth in alumina. Specialty alumina powders contain multiple impurity species including MgO, CaO, SiO2, and Na 2O. In this work, sintered samples made from alumina powders containing various amounts of the impurities in question were characterized by their grain size and aspect ratio distributions. Multiple quantitative methods were used to characterize and classify samples with varying microstructures. The grain size distributions were used to partition the grain size population into subpopulations depending on the observed deviation from normal behavior. Using both grain size and aspect ratio a new visual representation for a microstructure was introduced called a morphology frequency map that gives a fingerprint for the material. The number of subpopulations within a sample and the shape of the distribution on the morphology map provided the basis for a classification scheme for different types of microstructures. Also using the two parameters a series of five metrics were calculated that describe the character of the abnormal grains in the sample, these were called abnormal character values. The abnormal character values describe the fraction of grains that are considered abnormal, the average magnitude of abnormality (including both grain size and aspect ratio), the average size, and variance in size. The final metric is the correlation between grain size and aspect ratio for the entire population of grains. The abnormal character values give a sense of how different from "normal" the sample is, given the assumption that a normal sample has a lognormal distribution of grain size and a Gaussian distribution of aspect ratios. In the second part of the work the quantified measures of abnormality were correlated with processing parameters such as composition and heat treatment conditions. A

  16. Abnormal grain growth in TD-nickel.

    NASA Technical Reports Server (NTRS)

    Petrovic, J. J.; Ebert, L. J.

    1972-01-01

    Characteristics of the coarse grain transformation occurring in TD-nickel 1 in. bar under certain conditions of deformation and annealing were examined. The transformation exhibits Avrami-type kinetics, with an activation energy of 250 kcal per mole. Characteristics of untransformed regions are like those of the as-received state. The transformed grain size increases with increasing deformation and decreasing annealing temperature. The coarse grain transformation is significantly different from primary recrystallization in pure nickel. Its characteristics cannot be rationalized in terms of primary recrystallization concepts, but may be explained in terms of an abnormal grain growth description. The coarse grain transformation in TD-nickel is abnormal grain growth rather than primary recrystallization. The analysis suggests an explanation for the effect of thermomechanical history on the deformation and annealing behavior of TD-nickel.

  17. [Intrauterine growth retardation and the developing brain].

    PubMed

    Phan Duy, A; El Khabbaz, F; Renolleau, C; Aberchich, J; Heneau, A; Pham, H; Baud, O

    2013-09-01

    Fetal growth restriction is the second leading cause of perinatal morbidity and mortality, behind prematurity, and is present in 5-12% of all pregnancies in the general population. Often confused with children constitutionally small for gestational age, those who had not achieved their potential for fetal growth and therefore having true growth restriction can be identified using customized growth curves. The point is to accurately identify fetuses with slowing growth or cessation of growth reflecting a pathological process, because these are at risk of death in utero or chronic fetal hypoxia with a significant impact on brain development. The kinetics of growth and prenatal markers of fetal growth restriction will influence the decision to extract the fetus and the gestational age at birth, as well as other factors involved in the neurodevelopmental outcome. Cognitive deficits and executive, motor, and behavioral dysfunctions described in the short term seem to persist together with greater risk of metabolic syndrome in adulthood. Decisions of fetal extraction by C-section continue to be debated until new epidemiological data will be available on large cohorts monitored over the long term using accurate neurocognitive tools. Understanding the effects of fetal growth restriction on the structure and function of the developing brain is essential for improving the relevance of fetal extraction decisions, perinatal care, and early evaluation of treatments for the prevention of neurodevelopmental disorders. PMID:23890731

  18. GROWTH RETARDANTS: Effects on Gibberellin Biosynthesis and Other Metabolic Pathways.

    PubMed

    Rademacher, Wilhelm

    2000-06-01

    Plant growth retardants are applied in agronomic and horticultural crops to reduce unwanted longitudinal shoot growth without lowering plant productivity. Most growth retardants act by inhibiting gibberellin (GA) biosynthesis. To date, four different types of such inhibitors are known: (a) Onium compounds, such as chlormequat chloride, mepiquat chloride, chlorphonium, and AMO-1618, which block the cyclases copalyl-diphosphate synthase and ent-kaurene synthase involved in the early steps of GA metabolism. (b) Compounds with an N-containing heterocycle, e.g. ancymidol, flurprimidol, tetcyclacis, paclobutrazol, uniconazole-P, and inabenfide. These retardants block cytochrome P450-dependent monooxygenases, thereby inhibiting oxidation of ent-kaurene into ent-kaurenoic acid. (c) Structural mimics of 2-oxoglutaric acid, which is the co-substrate of dioxygenases that catalyze late steps of GA formation. Acylcyclohexanediones, e.g. prohexadione-Ca and trinexapac-ethyl and daminozide, block particularly 3ss-hydroxylation, thereby inhibiting the formation of highly active GAs from inactive precursors, and (d) 16,17-Dihydro-GA5 and related structures act most likely by mimicking the GA precursor substrate of the same dioxygenases. Enzymes, similar to the ones involved in GA biosynthesis, are also of importance in the formation of abscisic acid, ethylene, sterols, flavonoids, and other plant constituents. Changes in the levels of these compounds found after treatment with growth retardants can mostly be explained by side activities on such enzymes. PMID:15012200

  19. Ultrastructural study on human placenta from intrauterine growth retardation cases.

    PubMed

    Battistelli, Michela; Burattini, Sabrina; Pomini, Francesco; Scavo, Maria; Caruso, Alessandro; Falcieri, Elisabetta

    2004-10-01

    A morphological study was performed on 27 human placentas from normal gestations (Group 1) and compared with those from eight cases of intrauterine growth restriction (IUGR) (Group 2). Semithin section light microscopy, transmission, and scanning electron microscopy were carried out on trophoblastic terminal villi, carefully identified under the stereomicroscope. In growth retardation cases, villi appear longer, thinner, and less vascularized, compared to the normal condition. Fibrinoid, an extracellular material of hematic origin, frequently fills villar stroma. The density of apical microvilli appears considerably reduced and occasional microvilli-free areas are observed in growth retardation cases. Moreover, the underlying basal membrane appears significantly thicker than that of normal syncytiotrophoblast. Recently, particular attention has been paid to apoptosis as a possible cell deletion mechanism in growth restriction. In our study, a majority of typical apoptotic features appear indifferently in both IUGR and normal pregnancy. Our data hints that growth retardation might be correlated with a complex of structural changes, suggestive of maternofetal traffic downregulation, but further studies are required to understand the underlying functional mechanisms. PMID:15605416

  20. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

    PubMed

    Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C J; Thomas, Paul; Lespinasse, James; Raynaud, Martine; Paringaux, Christine; Van Bokhoven, Hans; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain

    2002-12-01

    Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development. PMID:12428212

  1. Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

    PubMed Central

    Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C. J.; Thomas, Paul; Lespinasse, James; Raynaud, Martine; Paringaux, Christine; van Bokhoven, Hans; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain

    2002-01-01

    Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]–box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development. PMID:12428212

  2. Chlormequat chloride retards rat embryo growth in vitro.

    PubMed

    Xiagedeer, Bayindala; Wu, Shuang; Liu, Yingjuan; Hao, Weidong

    2016-08-01

    Chlormequat chloride is the most widely used plant growth regulator in agriculture to promote sturdier growth of grain crops by avoidance of lodging. Therefore, human exposure to chlormequat chloride is very common, but its developmental toxicity has not been studied. Thus, we investigated the developmental toxicity of chlormequat chloride by applying rat whole embryo culture (WEC) model, limb bud micromass culture and 3T3 fibroblast cytotoxicity test. Chlormequat chloride at 150μg/ml (0.93mM) retarded the rat embryo growth without causing significant morphological malformations and at 500μg/ml (3.1mM) caused both retardation and morphological malformation of the embryos. However, the proliferation and differentiation of limb bud cells were not affected by chlormequat chloride at as high as up to 1000μg/ml (6.2mM) applied. This concentration of chlormequat chloride did not affect the cell viability as examined by 3T3 fibroblast cytotoxicity test either, suggesting that cellular toxicity may not play a role in chlormequat induced inhibition of rat embryo growth. Collectively, our results demonstrated that chlormequat chloride may affect embryo growth and development without inhibiting cell viability. PMID:27165806

  3. Update: consequences of abnormal fetal growth.

    PubMed

    Chernausek, Steven D

    2012-03-01

    Intrauterine growth restriction (IUGR) is prevalent worldwide and affects children and adults in multiple ways. These include predisposition to type 2 diabetes mellitus, the metabolic syndrome, cardiovascular disease, persistent reduction in stature, and possibly changes in the pattern of puberty. A review of recent literature confirms that the metabolic effects of being born small for gestational age are evident in the very young, persist with age, and are amplified by adiposity. Furthermore, the pattern of growth in the first few years of life has a significant bearing on a person's later health, with those that show increasing weight gain being at the greatest risk for future metabolic dysfunction. Treatment with exogenous human GH is used to improve height in children who remain short after being small for gestational age at birth, but the response of individuals remains variable and difficult to predict. The mechanisms involved in the metabolic programming of IUGR children are just beginning to be explored. It appears that IUGR leads to widespread changes in DNA methylation and that specific "epigenetic signatures" for IUGR are likely to be found in various fetal tissues. The challenge is to link such alterations with modifications in gene expression and ultimately the metabolic abnormalities of adulthood, and it represents one of the frontiers for research in the field. PMID:22238390

  4. Abnormal grain growth in Ni-5at.%W

    NASA Astrophysics Data System (ADS)

    Witte, M.; Belde, M.; Barrales Mora, L.; de Boer, N.; Gilges, S.; Klöwer, J.; Gottstein, G.

    2012-12-01

    The growth of abnormally large grains in textured Ni-5at.%W substrates for high-temperature superconductors deteriorates the sharp texture of these materials and thus has to be avoided. Therefore the growth of abnormal grains is investigated and how it is influenced by the grain orientation and the annealing atmosphere. Texture measurements and grain growth simulations show that the grain orientation only matters so far that a high-angle grain boundary exists between an abnormally growing grain and the Cube-orientated matrix grains. The annealing atmosphere has a large influence on abnormal grain growth which is attributed to the differences in oxygen partial pressure.

  5. Abnormal grain growth in AISI 304L stainless steel

    SciTech Connect

    Shirdel, M.; Mirzadeh, H.; Parsa, M.H.

    2014-11-15

    The microstructural evolution during abnormal grain growth (secondary recrystallization) in 304L stainless steel was studied in a wide range of annealing temperatures and times. At relatively low temperatures, the grain growth mode was identified as normal. However, at homologous temperatures between 0.65 (850 °C) and 0.7 (900 °C), the observed transition in grain growth mode from normal to abnormal, which was also evident from the bimodality in grain size distribution histograms, was detected to be caused by the dissolution/coarsening of carbides. The microstructural features such as dispersed carbides were characterized by optical metallography, X-ray diffraction, scanning electron microscopy, energy dispersive X-ray analysis, and microhardness. Continued annealing to a long time led to the completion of secondary recrystallization and the subsequent reappearance of normal growth mode. Another instance of abnormal grain growth was observed at homologous temperatures higher than 0.8, which may be attributed to the grain boundary faceting/defaceting phenomenon. It was also found that when the size of abnormal grains reached a critical value, their size will not change too much and the grain growth behavior becomes practically stagnant. - Highlights: • Abnormal grain growth (secondary recrystallization) in AISI 304L stainless steel • Exaggerated grain growth due to dissolution/coarsening of carbides • The enrichment of carbide particles by titanium • Abnormal grain growth due to grain boundary faceting at very high temperatures • The stagnancy of abnormal grain growth by annealing beyond a critical time.

  6. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.

    PubMed Central

    Wilkie, A O

    1993-01-01

    Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here I describe and analyze a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, approximately 50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomeres should provide a valuable resource in routine diagnostics. PMID:8352277

  7. Growth differences associated with compulsive and stereotyped behavior disorders in adults with mental retardation.

    PubMed

    Powell, S B; Bodfish, J W; Parker, D E; Crawford, T W; Golden, R N; Lewis, M H

    1996-01-01

    We have recently observed that compulsive behaviors in mentally retarded patients appear to be quite prevalent, can be reliably assessed, and have a high rate of co-occurrence with stereotyped and self-injurious behaviors in this population. As abnormal growth rate has been observed in obsessive-compulsive disorder (OCD) patients, we examined physical stature in adults with mental retardation who display repetitive movement disorders. Identification of cases with stereotypic movement disorder, and cases with compulsive behaviors was done using a symptom checklist and direct observation. Subjects with repetitive movement disorders were smaller in stature than control subjects, with gender differences observed across repetitive behavior disorders. Specifically, female subjects with compulsive behavior disorder, but not stereotypic movement disorder, were significantly shorter and weighted significantly less than same sex-matched controls. Conversely, male subjects with stereotypic movement disorder, but not compulsive disorder, were significantly shorter and weighed significantly less than same sex controls. These findings may point to a neuroendocrine abnormality associated with repetitive movement disorders. PMID:9160607

  8. Massive subchorionic hematoma (Breus' mole) complicated by intrauterine growth retardation.

    PubMed

    Nishida, N; Suzuki, S; Hamamura, Y; Igarashi, K; Hayashi, Z; Sawa, R; Yoneyama, Y; Asakura, H; Kawabata, K; Shima, Y; Shin, S; Araki, T

    2001-02-01

    We present here a case of massive subchorionic hematoma complicated by intrauterine growth retardation and oligohydramnios diagnosed at 22 weeks' gestation. The patient was managed with the following medications: (1) tocolysis with ritodrine infusion, (2) 10%maltose infusion therapy (1500mL/day), (3) antibiotic infusion (cefotaxim sodium, 2 g/dayx7) and (4) kampo therapy with Sairei-to until delivery. At 33 weeks and 0 days' gestation, a female baby weighing 1,342 g was delivered without complication by caesarean section. During surgery, an escape of about 500~600 g of dark brown blood with no clots was noted from the subchorionic space of the placenta. Examination of the placenta showed a large fibrosis with well-defined margins on the fetal surface. PMID:11180702

  9. A review of contemporary modalities for identifying abnormal fetal growth.

    PubMed

    O'Connor, C; Stuart, B; Fitzpatrick, C; Turner, M J; Kennelly, M M

    2013-04-01

    Detecting aberrant fetal growth has long been an important goal of modern obstetrics. Failure to diagnose abnormal fetal growth results in perinatal morbidity or mortality. However, the erroneous diagnosis of abnormal growth may lead to increased maternal anxiety and unnecessary obstetric interventions. We review the aetiology of deviant fetal growth and its implications both for the neonatal period and later in adult life. We examine maternal factors that may influence fetal growth such as obesity, glycaemic control and body composition. We discuss novel ways to improve our detection of abnormal fetal growth with a view to optimising antenatal care and clinical outcomes. These include using customised centiles or individualised growth assessment methods to improve accuracy. The role of fetal subcutaneous measurements as a surrogate marker of the nutritional status of the baby is also discussed. Finally, we investigate the role of Doppler measurements in identifying growth-restricted babies. PMID:23550849

  10. Assessment of Turner's syndrome by molecular analysis of the X chromosome in growth-retarded girls.

    PubMed

    Gicquel, C; Gaston, V; Cabrol, S; Le Bouc, Y

    1998-05-01

    Turner's syndrome (TS) is a common disorder (1/2500 to 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood or at puberty for the rest. Growth retardation is the most frequent clinical feature of TS, so we systematically searched for TS in female patients referred to our center because of short stature. Three hundred seventy-five female patients, 1 month to 18 yr old (mean +/- SD = 9(7/12) +/- 3(9/12), with growth retardation (less than -2 SD) and/or decreased height velocity were included in the study. Mean growth retardation was -2.57 SD +/- 0.79 (range: -1 to -7). Thirty-two percent of the patients had reached puberty. GH provocative tests were performed in 329 patients (87.7%), and 36 of these patients (11%) had impaired GH secretion (5 complete and 31 partial GH deficiency). TS was evaluated by Southern blot analysis of leukocyte DNA using a multiallelic polymorphic X chromosome marker (88% heterozygosity rate). Y chromosome PCR analysis was carried out if a pattern indicative of TS was obtained. Leukocyte DNA analysis produced an abnormal restriction pattern for 20 of the 375 cases (5.3%). There was a single hybridizing band in 13 cases, an allelic disproportion indicative of mosaicism in 6 cases, and 3 hybridizing bands in 1 case. One patient tested positive in the Y chromosome PCR analysis. Cytogenetic analysis showed 47 XXX trisomy in the patient with a 3-hybridizing-band pattern and confirmed the diagnosis of TS for 17 of the 19 suspected cases: 45 X: n = 7; 45 X/46 Xi(Xq): n = 4; 45 X/46 XX: n = 2; 46 Xi(Xq): n = 1; 45 X/46 Xr(X): n = 1; 45 X/46 XX/47 XXX: n = 1; 45 X/46 XY: n = 1. Cytogenetic analysis was normal (46 XX) for the 2 other patients. The TS phenotype is variable: dysmorphism is often missing or mild (particularly in cases of mosaicism), but growth is reduced in virtually all patients. Screening of 375 growth-retarded girls identified 18 cases of TS, of which 17 were diagnosed by molecular

  11. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation.

    PubMed Central

    Eggerding, F. A.; Schonberg, S. A.; Chehab, F. F.; Norton, M. E.; Cox, V. A.; Epstein, C. J.

    1994-01-01

    Uniparental isodisomy resulting from the simultaneous presence of isochromosomes of the p and q arms of a chromosome and absence of a normal homologue is an exceptionally rare event. We have observed a growth-retarded female infant in whom the normal chromosome 7 homologues were replaced by what appeared cytogenetically to be isochromosomes of 7p and 7q. Polymorphic microsatellite loci spanning the length of 7p and 7q were analyzed in the proband and her parents to ascertain the parental origin and extent of heterozygosity of the proband's rearranged chromosomes. These studies demonstrated that the 7p alleles of the proband were derived only from the father, the 7q alleles were derived only from the mother, and there was homozygosity for all chromosome 7 loci analyzed. The mechanisms leading to the formation of the proband's isochromosomes could reflect abnormalities of cell division occurring at meiosis, postfertilization mitosis, or both. We believe that the present case may result from incomplete mitotic interchange in the pericentromeric regions of chromosome 7 homologues, with resolution by sister-chromatid reunion in an early, if not first, zygotic division. Phenotypically, our proband resembled three previously reported cases of maternal isodisomy for chromosome 7, suggesting that lack of paternal genes from 7q may result in a phenotype of short stature and growth retardation. Images Figure 1 PMID:7913578

  12. A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation.

    PubMed

    Donnai, D

    1986-05-01

    A further case of a syndrome of pre- and postnatal growth retardation, characteristic face, and unusual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 1984. PMID:3706410

  13. Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings

    SciTech Connect

    Hamel, B.C.J.; Smits, A.P.T.; Helm, B. van den

    1996-07-12

    We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behavior but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at {theta} = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome. 18 refs., 6 figs., 3 tabs.

  14. Abnormal Grain Growth in M-252 and S-816 Alloys

    NASA Technical Reports Server (NTRS)

    Decker, R F; Rush, A I; Dano, A G; Freeman, J W

    1957-01-01

    An experimental investigation was carried out on air- and vacuum-melted M-252 and S-816 alloys to find conditions of heating and hot-working which resulted in abnormal grain growth. The experiments were mainly limited to normal conditions of heating for hot-working and heat treatment and normal temperatures of solution treatment were used to allow grain growth after susceptibility to abnormal grain growth was developed by various experimental conditions. Results indicated that small reductions of essentially strain-free metal were the basic cause of such grain growth.

  15. The Use of Genomic Microarrays to Study Chromosomal Abnormalities in Mental Retardation

    ERIC Educational Resources Information Center

    Mao, Rong; Pevsner, Jonathan

    2005-01-01

    Mental retardation affects 2 to 3% of the US population. It is defined by broad criteria, including significantly subaverage intelligence, onset by age 18, and impaired function in a group of adaptive skills. A myriad of genetic and environmental causes have been described, but for approximately half of individuals diagnosed with mental…

  16. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms

    SciTech Connect

    Wilkie, A.O.M.

    1993-09-01

    Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here the author describes and analyzes a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, [approximately]50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomers should provide a valuable resource in routine diagnostics. 73 refs., 4 figs., 4 tabs.

  17. Nanoscale abnormal grain growth in (001) epitaxial ceria

    SciTech Connect

    Solovyov, Vyacheslav F.; Develos-Bagarinao, Katherine; Nykypanchuk, Dmytro

    2009-09-01

    X-ray reciprocal-space mapping and atomic force microscopy (AFM) are used to study kinetics and mechanisms of lateral grain growth in epitaxial (001) ceria (CeO{sub 2}) deposited by pulsed laser deposition on (001) yttria-stabilized zirconia (YSZ) and (12 lowbar 10) (r-cut) sapphire. Rate and character of the grain growth during postannealing at 1050 deg. C are found to be strongly dependent on the type of the epitaxial substrate. Films deposited on YSZ exhibit signatures of normal grain growth, which stagnated after the lateral grain size reaches 40 nm, consistent with the grain-boundary pinning by the thermal grooving. In contrast, when r-cut sapphire substrate was used, abnormal (secondary) grain growth is observed. A small population of grains grow to well over 100 nm consuming smaller, <10 nm, grains, thus forming well-defined >100 nm large (001) terminations and rendering the sample single-crystalline quality. The grain growth is accompanied by reduction in lateral rms strain, resulting in a universal grain size--rms strain dependence. Analysis of the AFM and x-ray diffraction data leads to the conclusion that bimodal initial grain population consisting of grains with very different sizes is responsible for initiation of the abnormal growth in (001) CeO{sub 2} films on r-cut sapphire. Due to different surface chemistry, when a YSZ substrate is used, the initial grain distribution is monomodal, therefore only normal growth is active. We demonstrate that a 2.2 deg. miscut of the sapphire substrate eliminates the large-grain population, thus suppressing abnormal grain growth. It is concluded that utilization of abnormal grain growth is a promising way for synthesis of large (001) ceria terminations.

  18. Kinetic constants of abnormal grain growth in nanocrystalline nickel

    NASA Astrophysics Data System (ADS)

    Aleshin, A. N.

    2016-02-01

    The grain growth in nanocrystalline nickel with a purity of 99.5 at % during non-isothermal annealing was experimentally investigated using differential scanning calorimetry and transmission electron microscopy. Nanocrystalline nickel was prepared by electrodeposition and had an average grain size of approximately 20 nm. It was shown that, at a temperature corresponding to the calorimetric signal peak, abnormal grain growth occurs with the formation of a bimodal grain microstructure. Calorimeters signals were processed within the Johnson-Mehl-Avrami formalism. This made it possible to determine the exponent of the corresponding equation, the frequency factor, and the activation energy of the grain growth, which was found to be equal to the activation energy of the vacancy migration. The reasons for the abnormal grain growth in nanocrystalline nickel were discussed.

  19. Long-term physiological and economic consequences of growth retardation in children and adolescents.

    PubMed

    Norgan, N G

    2000-05-01

    The application of a lifespan perspective in human biology in recent years has shown that a number of early environmental factors influencing human growth and development have long-term biological or psycho-social consequences. Human growth is characterized by prolonged infancy, an extended childhood phase and high rates of growth during the adolescent growth spurt. It is unlikely that these characteristics would have evolved without having advantages, and curtailments have the potential for disadvantage. The present paper examines the evidence for long-term physiological and economic consequences of growth retardation in children and adolescents. The emphasis is the biological and economic imperatives of survival, subsistence, reproduction and production rather than aspects of metabolic competence. Many of the consequences of growth retardation are determined by the direct effect on body size, but many other consequences arise from the conditions that cause the growth retardation. Catch up of retarded growth can occur, but does not usually do so because of the continued presence of the retarding agents. Basal metabolism and physical work capacity are usually commensurate with the size of the individual; mechanical efficiency of physical work is unchanged, but falls in activity levels may occur along with a reduction in the pace of activity. Growth retardation in childhood is associated with a higher disease and mortality risk in adulthood, with decreased productivity and employment and promotion prospects. Studies are showing that relative deprivation and the accumulation of socially patterned exposures are important in some societies. Height and growth retardation have proved invaluable in reflecting these factors, but the next generation of studies may require more discriminating indices. PMID:10946793

  20. C21orf5, a human candidate gene for brain abnormalities and mental retardation in Down syndrome.

    PubMed

    Rachidi, M; Lopes, C; Delezoide, A-L; Delabar, J M

    2006-01-01

    Mental retardation represents the more invalidating pathological aspect of trisomy 21 and has a hard impact on public health. The dosage imbalance of chromosome 21 genes could be the cause of neurological alterations and mental retardation seen in Down syndrome. We studied C21orf5 that we have demonstrated to be overexpressed in Down syndrome tissues, as a candidate gene for trisomy 21. A new optical technology (Rachidi et al., 2000) was used to compare signal intensity and cell density in presumptive embryonic brain compartments, at their boundaries and in higher specialized brain centres during fetal lifespan. We showed a developmentally regulated transcriptional activity of C21orf5 and a regional and cellular specific distribution of gene transcripts during human embryonic and fetal development. A wide but differential expression was detected in the nervous system during embryogenesis with a relatively lower level in the forebrain than in the midbrain and hindbrain and the highest transcription intensity in the future cerebellum. This developmentally regulated expression is maintained during post-embryogenesis and evolves selectively in fetal cerebral, hippocampal and cerebellar areas. Differential and cellular specificity were detected in hippocampus with higher C21orf5 mRNA level in the pyramidal cells compared to granular cells of the dentate gyrus. The expression pattern detected in cortical and cerebellar structures correlates well to the altered cortical lamination and to the lower size of the cerebellum observed in Down syndrome patients. In addition, the patterned differential expression detected in the medial temporal-lobe system, including hippocampal formation and perirhinal cortex, working as control centres of the memory circuits and involved in cognitive processes and memory storage, also corresponds to abnormal brain regions seen in Down syndrome patients. The C21orf5 selective expression in the key brain structures for learning and memory

  1. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

    PubMed Central

    Telvi, L; Ion, A; Carel, J C; Desguerre, I; Piraud, M; Boutin, A M; Feingold, J; Ponsot, G; Fellous, M; McElreavey, K

    1996-01-01

    An unusual familial case of three sibs with a partial duplication of distal Xp sequences is described. The proband, an 18 year old boy, showed mental retardation, severe dysmorphic features, hypogonadotrophic hypogonadism (HHG), and hypoplastic external genitalia. His karyotype was 46,Y,inv dup(X) (p22.11-->p 22.32). The proband has two sisters each with the same inv dup(Xp) chromosome. Both sisters presented with short stature but were otherwise phenotypically normal. The abnormal X chromosome was inactive in the majority of cells examined. Southern blot dosage analysis indicated a duplication of distal Xp sequences. The proximal breakpoint is located between DXS28 and DXS41, and is therefore at least 2 Mb distal to the DSS locus. The relationship between the phenotype and the Xp duplication is discussed. Images PMID:8880579

  2. PHYSIOLOGICAL CONSEQUENCES OF EARLY NEONATAL GROWTH RETARDATION: EFFECTS OF A-DIFLUOROMETHYLORNITHINE ON RENAL GROWTH AND FUNCTION IN THE RAT

    EPA Science Inventory

    The physiological consequences of early neonatal growth retardation in the kidney are investigated using DFMO (a-difluoromethylornithine), a specific irreversible inhibitor of ornithine decarboxylase (ODC), a key enzyme in the biosynthesis of polyamines. e administered 500 eg/kg/...

  3. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

    PubMed Central

    2010-01-01

    Background Rett syndrome (RTT), a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT. When these same mutations occur in males, they often present as severe neonatal encephalopathy. However, some MECP2 mutations can also lead to diseases characterized as mental retardation syndromes, particularly in boys. One of these mutations, A140V, is a common, recurring missense mutation accounting for about 0.6% of all MeCP2 mutations and ranking 21st by frequency. It has been described in familial X-linked mental retardation (XLMR), PPM- X syndrome (Parkinsonism, Pyramidal signs, Macroorchidism, X-linked mental retardation) and in other neuropsychiatric syndromes. Interestingly, this mutation has been reported to preserve the methyl-CpG binding function of the MeCP2 protein while compromising its ability to bind to the mental retardation associated protein ATRX. Results We report the construction and initial characterization of a mouse model expressing the A140V MeCP2 mutation. These initial descriptive studies in male hemizygous mice have revealed brain abnormalities seen in both RTT and mental retardation. The abnormalities found include increases in cell packing density in the brain and a significant reduction in the complexity of neuronal dendritic branching. In contrast to some MeCP2 mutation mouse models, the A140V mouse has an apparently normal lifespan and normal weight gain patterns with no obvious seizures, tremors, breathing difficulties or kyphosis. Conclusion We have identified various neurological abnormalities in this mouse model of Rett syndrome/X-linked mental retardation which may help to elucidate the manner in which MECP2 mutations cause neuronal changes resulting in mental retardation without the confounding effects of seizures, chronic hypoventilation, or other Rett syndrome associated symptoms. PMID:20163734

  4. Abnormal Stability in Growth of Diffusion-Limited Aggregation

    NASA Astrophysics Data System (ADS)

    Ohta, Shonosuke

    2009-01-01

    An abnormal and unsteady growth of an isotropic cluster in diffusion-limited aggregation (DLA) is observed in stability analyses. Macroscopic fluctuation due to the delay of transition from a dendritic tip to a tip-splitting growth induces the anisotropy of DLA. An asymptotic deformation factor \\varepsilon∞ = 0.0888 is obtained from large DLA clusters. A symmetric oval model proposed from the dual-stability growth of DLA gives an asymptotic fractal dimension of 1.7112 using \\varepsilon∞. The correspondence of this model to the box dimension is excellent.

  5. A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

    PubMed Central

    Gijsbers, Antoinet CJ; Lew, Janet YK; Bosch, Cathy AJ; Schuurs-Hoeijmakers, Janneke HM; van Haeringen, Arie; den Hollander, Nicolette S; Kant, Sarina G; Bijlsma, Emilia K; Breuning, Martijn H; Bakker, Egbert; Ruivenkamp, Claudia AL

    2009-01-01

    High-density single-nucleotide polymorphism (SNP) genotyping technology enables extensive genotyping as well as the detection of increasingly smaller chromosomal aberrations. In this study, we assess molecular karyotyping as first-round analysis of patients with mental retardation and/or multiple congenital abnormalities (MR/MCA). We used different commercially available SNP array platforms, the Affymetrix GeneChip 262K NspI, the Genechip 238K StyI, the Illumina HumanHap 300 and HumanCNV 370 BeadChip, to detect copy number variants (CNVs) in 318 patients with unexplained MR/MCA. We found abnormalities in 22.6% of the patients, including six CNVs that overlap known microdeletion/duplication syndromes, eight CNVs that overlap recently described syndromes, 63 potentially pathogenic CNVs (in 52 patients), four large segments of homozygosity and two mosaic trisomies for an entire chromosome. This study shows that high-density SNP array analysis reveals a much higher diagnostic yield as that of conventional karyotyping. SNP arrays have the potential to detect CNVs, mosaics, uniparental disomies and loss of heterozygosity in one experiment. We, therefore, propose a novel diagnostic approach to all MR/MCA patients by first analyzing every patient with an SNP array instead of conventional karyotyping. PMID:19436329

  6. Genetic heterogeneity of prematurity and intrauterine growth retardation: clues from the Old Order Amish.

    PubMed

    Khoury, M J; Cohen, B H

    1987-08-01

    We studied differences in the role of genetic factors in prematurity and intrauterine growth retardation with the use of data on 312 Amish singleton live children ascertained from Amish records in Lancaster county, Pennsylvania, between 1969 and 1980. Birth and death certificates were obtained on all children, and inbreeding coefficients of child, mother, and father were computed by use of the path method of tracing common ancestors in a unique genealogic registry of Amish ancestors dating back to the 1700s. Multivariate analysis with linear and log linear models showed that a lower mean gestational age and a higher risk of prematurity (less than 37 weeks) and borderline maturity (37 to 38 weeks) were significantly associated with increased maternal inbreeding but not child or paternal inbreeding. On the other hand, a higher risk of intrauterine growth retardation (less than the tenth percentile in birth weight for gestational age) and mild intrauterine growth delay (tenth to twenty-fifth percentile) were associated with increased child inbreeding but not maternal or paternal inbreeding. The analysis suggests the presence of genetic heterogeneity in the etiology of prematurity and intrauterine growth retardation; while prematurity is mostly related to the maternal genotype, intrauterine growth retardation is related to the fetal genotype. The study reemphasizes the need for separating low birth weight into prematurity and intrauterine growth retardation in genetic and epidemiologic studies. PMID:3618690

  7. A case of ataxic diplegia, mental retardation, congenital nystagmus and abnormal auditory brain stem responses showing only waves I and II.

    PubMed

    Aiba, K; Yokochi, K; Ishikawa, T

    1986-01-01

    A three-year-old boy who had ataxic diplegia, mental retardation, horizontal pendular nystagmus with head nodding and abnormal auditory brain stem responses showing only waves I and II was presented. His clinical features coincided with recent reports in the Japanese literature of cases of a new syndrome that is congenital in origin and seen only in boys. PMID:3826555

  8. Growth retardation in sickle-cell disease treated by nutritional support.

    PubMed

    Heyman, M B; Vichinsky, E; Katz, R; Gaffield, B; Hurst, D; Castillo, R; Chiu, D; Kleman, K; Ammann, A J; Thaler, M M

    1985-04-20

    The effect of increased nutritional intake was evaluated in 5 growth-retarded children with sickle-cell disease. Growth on recommended daily calorie and protein intakes had been inadequate in all 5. Fat absorption and intestinal mucosal morphology were normal in all 5. 2 children were given nutritional supplementation by nasogastric intubation, 1 received nightly oral formula supplements, and 2 were supplemented with zinc, iron, folate, and vitamin E only. Nutritional supplementation by the nasogastric route produced a rapid sustained increase in growth rate, associated with striking reductions in pain crises and infections which had previously necessitated many hospital admissions. Oral supplementation improved the clinical course but had no effect on growth rate. Mineral and vitamin supplements influenced neither the growth rate nor the clinical course. The observations indicate that nasogastric nutritional supplementation may accelerate growth and reduce the incidence and severity of complications in growth-retarded children with sickle-cell disease. PMID:2858749

  9. [Possibility of predicting intrauterine fetal growth retardation by a single ultrasonic examination (using varying standards)].

    PubMed

    Fedorova, M V; Kotov, Iu B; Lukashenko, S Iu; Alekseevskiĭ, A V; Dub, N V; Sichinava, L G; Novikova, S V; Klimenko, P A

    1991-05-01

    The paper deals with early prediction of fetal growth retardation and its severity in a newborn from single ultrasound fetal biometric findings (biparietal head size, chest and belly diameters) at week 20 of pregnancy. The prediction was made by employing the developed varying standards for these parameters as percentile curves and tables. A stepwise prediction of fetal growth retardation was proposed for obstetric in- and outpatient settings, which was presented as an IBM personal computer dialogue program. The positive diagnostic value of fetal growth retardation prediction was found to be 69.7%, its negative value was 86.9%. The paper discusses whether therapeutic measures and pregnancy length affect the efficiency of its prediction and stresses that the prediction is valuable for individual well-grounded tactics for pregnancy management. PMID:1897665

  10. Cystic fibrosis growth retardation is not correlated with loss of Cftr in the intestinal epithelium

    PubMed Central

    Grady, Brian R.; Mishra, Kirtishri; Cotton, Calvin U.; Drumm, Mitchell L.

    2011-01-01

    Maldigestion due to exocrine pancreatic insufficiency leads to intestinal malabsorption and consequent malnutrition, a mechanism proposed to cause growth retardation associated with cystic fibrosis (CF). However, although enzyme replacement therapy combined with increased caloric intake improves weight gain, the effect on stature is not significant, suggesting that growth retardation has a more complex etiology. Mouse models of CF support this, since these animals do not experience exocrine pancreatic insufficiency yet are growth impaired. Cftr absence from the intestinal epithelium has been suggested as a primary source of growth retardation in CF mice, a concept we directly tested by generating mouse models with Cftr selectively inactivated or restored in intestinal epithelium. The relationship between growth and functional characteristics of the intestines, including transepithelial electrophysiology, incidence of intestinal obstruction, and histopathology, were assessed. Absence of Cftr exclusively from intestinal epithelium resulted in loss of cAMP-stimulated short-circuit current, goblet cell hyperplasia, and occurrence of intestinal obstructions but only slight and transient impaired growth. In contrast, specifically restoring Cftr to the intestinal epithelium resulted in restoration of ion transport and completely protected against obstruction and histopathological anomalies, but growth was indistinguishable from CF mice. These results indicate that absence of Cftr in the intestinal epithelium is an important contributor to the intestinal obstruction phenotype in CF but does not correlate with the observed growth reduction in CF. PMID:21659619

  11. Intrauterine growth retardation and premature delivery: the influence of maternal smoking and psychosocial factors.

    PubMed Central

    Nordentoft, M; Lou, H C; Hansen, D; Nim, J; Pryds, O; Rubin, P; Hemmingsen, R

    1996-01-01

    OBJECTIVES. This study investigated the influence of psychosocial stress, maternal schooling, social support, psychological well-being, alcohol, and smoking on intrauterine growth retardation and premature delivery. METHODS. At a Copenhagen university hospital, 2432 pregnant women completed a questionnaire on general health, psychosocial stressors, and sociodemographic characteristics. RESULTS. In 212 cases (8.7%) the women delivered prematurely. Preterm delivery as associated with psychosocial stress (adjusted odds ratio [OR]=1.14 for each 1-point increase on the psychosocial stressor 5-point scale and 1.92 for the whole scale) and poor school education (adjusted OR=2.62 for 7-9 years of schooling, 1.91 for 10 years, and 1.0 for 11-13 years). In 152 cases (6.3%), infants had a birthweight below the 10th percentile. Intrauterine growth retardation was associated with smoking, daily drinking, school education, and social network variables. In a multiple logistic regression model, intrauterine growth retardation was associated with smoking habits (adjusted OR=2.40 for 0-9 cigarettes daily, 2.68 for 10-15 daily, and 2.88 for more than 15 daily). CONCLUSIONS. Psychosocial stressors and limited duration of schooling appeared to influence preterm delivery. Smoking habits influenced intrauterine growth retardation. PMID:8604759

  12. RETARDED GROWTH OF EMBRYO1, a New Basic Helix-Loop-Helix Protein, Expresses in Endosperm to Control Embryo Growth1[W

    PubMed Central

    Kondou, Youichi; Nakazawa, Miki; Kawashima, Mika; Ichikawa, Takanari; Yoshizumi, Takeshi; Suzuki, Kumiko; Ishikawa, Akie; Koshi, Tomoko; Matsui, Ryo; Muto, Shu; Matsui, Minami

    2008-01-01

    We have isolated two dominant mutants from screening approximately 50,000 RIKEN activation-tagging lines that have short inflorescence internodes. The activation T-DNAs were inserted near a putative basic helix-loop-helix (bHLH) gene and expression of this gene was increased in the mutant lines. Overexpression of this bHLH gene produced the original mutant phenotype, indicating it was responsible for the mutants. Specific expression was observed during seed development. The loss-of-function mutation of the RETARDED GROWTH OF EMBRYO1 (RGE1) gene caused small and shriveled seeds. The embryo of the loss-of-function mutant showed retarded growth after the heart stage although abnormal morphogenesis and pattern formation of the embryo and endosperm was not observed. We named this bHLH gene RGE1. RGE1 expression was determined in endosperm cells using the β-glucuronidase reporter gene and reverse transcription-polymerase chain reaction. Microarray and real-time reverse transcription-polymerase chain reaction analysis showed specific down-regulation of putative GDSL motif lipase genes in the rge1-1 mutant, indicating possible involvement of these genes in seed morphology. These data suggest that RGE1 expression in the endosperm at the heart stage of embryo development plays an important role in controlling embryo growth. PMID:18567831

  13. Plant Growth Retardation and Conserved miRNAs Are Correlated to Hibiscus Chlorotic Ringspot Virus Infection

    PubMed Central

    Gao, Ruimin; Wan, Zi Yi; Wong, Sek-Man

    2013-01-01

    Virus infection may cause a multiplicity of symptoms in their host including discoloration, distortion and growth retardation. Hibiscus chlorotic ringspot virus (HCRSV) infection was studied using kenaf (Hibiscus cannabinus L.), a non-wood fiber-producing crop in this study. Infection by HCRSV reduced the fiber yield and concomitant economic value of kenaf. We investigated kenaf growth retardation and fluctuations of four selected miRNAs after HCRSV infection. Vegetative growth (including plant height, leaf size and root development) was severely retarded. From the transverse and radial sections of the mock and HCRSV-infected kenaf stem, the vascular bundles of HCRSV-infected plants were severely disrupted. In addition, four conserved plant developmental and defence related microRNAs (miRNAs) (miR165, miR167, miR168 and miR171) and their respective target genes phabulosa (PHB), auxin response factor 8 (ARF8), argonaute 1 (AGO1) and scarecrow-like protein 1 (SCL1) displayed variation in expression levels after HCRSV infection. Compared with the mock inoculated kenaf plants, miR171 and miR168 and their targets SCL1 and AGO1 showed greater fluctuations after HCRSV infection. As HCRSV upregulates plant SO transcript in kenaf and upregulated AGO1 in HCRSV-infected plants, the expression level of AGO1 transcript was further investigated under sulfite oxidase (SO) overexpression or silencing condition. Interestingly, the four selected miRNAs were also up- or down-regulated upon overexpression or silencing of SO. Plant growth retardation and fluctuation of four conserved miRNAs are correlated to HCRSV infection. PMID:24386476

  14. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

    PubMed Central

    Gineau, Laure; Cognet, Céline; Kara, Nihan; Lach, Francis Peter; Dunne, Jean; Veturi, Uma; Picard, Capucine; Trouillet, Céline; Eidenschenk, Céline; Aoufouchi, Said; Alcaïs, Alexandre; Smith, Owen; Geissmann, Frédéric; Feighery, Conleth; Abel, Laurent; Smogorzewska, Agata; Stillman, Bruce; Vivier, Eric; Casanova, Jean-Laurent; Jouanguy, Emmanuelle

    2012-01-01

    Natural killer (NK) cells are circulating cytotoxic lymphocytes that exert potent and nonredundant antiviral activity and antitumoral activity in the mouse; however, their function in host defense in humans remains unclear. Here, we investigated 6 related patients with autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency characterized by a lack of the CD56dim NK subset. Using linkage analysis and fine mapping, we identified the disease-causing gene, MCM4, which encodes a component of the MCM2-7 helicase complex required for DNA replication. A splice-site mutation in the patients produced a frameshift, but the mutation was hypomorphic due to the creation of two new translation initiation methionine codons downstream of the premature termination codon. The patients’ fibroblasts exhibited genomic instability, which was rescued by expression of WT MCM4. These data indicate that the patients’ growth retardation and adrenal insufficiency likely reflect the ubiquitous but heterogeneous impact of the MCM4 mutation in various tissues. In addition, the specific loss of the NK CD56dim subset in patients was associated with a lower rate of NK CD56bright cell proliferation, and the maturation of NK CD56bright cells toward an NK CD56dim phenotype was tightly dependent on MCM4-dependent cell division. Thus, partial MCM4 deficiency results in a genetic syndrome of growth retardation with adrenal insufficiency and selective NK deficiency. PMID:22354167

  15. Growth retardation at early life and metabolic adaptation among North Korean children.

    PubMed

    Lee, S-K; Nam, S-Y; Hoffman, D J

    2015-08-01

    The high prevalence of obesity is a major public health issue and contributes to the 'double burden' of disease in developing countries. Early exposure to poor nutrition may cause metabolic adaptations that, when accompanied by exposure to 'affluent' nutrition, may increase the risk for obesity and other metabolic disorders. The aim of this study was to determine differences in energy metabolism and nutritional status between normal-height and growth-retarded North Korean children living in South Korea. A total of 29 children were recruited and underwent measurements of resting energy expenditure (REE), respiratory quotient (RQ), anthropometrics and dietary intake. There was no difference in REE or any assessment of obesity between the growth-retarded and normal-height children. Children who were classified as growth retarded (HAZ<-1.0) or stunted (HAZ<-2.0) had a significantly higher RQ (β=0.036 or 0.060, respectively, P=0.018 or 0.016), independent of sex, age, fat-free mass, fat mass and food quotient, compared with children with normal height. The results from this study, the first from an Asian population, add to the growing body of literature suggesting that undernutrition early in life results in adaptations in energy metabolism that favor fat deposition, increasing the risk of stunted children becoming overweight or obese later in life. Continued research on this topic is warranted, given the continued rise in the prevalence of the double burden in transitional countries. PMID:25997456

  16. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

    PubMed

    Kopajtich, Robert; Murayama, Kei; Janecke, Andreas R; Haack, Tobias B; Breuer, Maximilian; Knisely, A S; Harting, Inga; Ohashi, Toya; Okazaki, Yasushi; Watanabe, Daisaku; Tokuzawa, Yoshimi; Kotzaeridou, Urania; Kölker, Stefan; Sauer, Sven; Carl, Matthias; Straub, Simon; Entenmann, Andreas; Gizewski, Elke; Feichtinger, René G; Mayr, Johannes A; Lackner, Karoline; Strom, Tim M; Meitinger, Thomas; Müller, Thomas; Ohtake, Akira; Hoffmann, Georg F; Prokisch, Holger; Staufner, Christian

    2016-08-01

    tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one. PMID:27426735

  17. Growth retardation of Escherichia coli by artificial increase of intracellular ATP.

    PubMed

    Na, Yoon-Ah; Lee, Joo-Young; Bang, Weon-Jeong; Lee, Hyo Jung; Choi, Su-In; Kwon, Soon-Kyeong; Jung, Kwang-Hwan; Kim, Jihyun F; Kim, Pil

    2015-06-01

    Overexpression of phosphoenolpyruvate carboxykinase (PCK) was reported to cause the harboring of higher intracellular ATP concentration in Escherichia coli, accompanied with a slower growth rate. For systematic determination of the relationship between the artificial increase of ATP and growth retardation, PCKWT enzyme was directly evolved in vitro and further overexpressed. The evolved PCK67 showed a 60% greater catalytic efficiency than that of PCKWT. Consequently, the PCK67-overexpressing E. coli showed the highest ATP concentration at the log phase of 1.45 μmol/gcell, with the slowest growth rate of 0.66 h(-1), while the PCKWT-overexpressing cells displayed 1.00 μmol/gcell ATP concentration with the growth rate of 0.84 h(-1) and the control had 0.28 μmol/gcell with 1.03 h(-1). To find a plausible reason, PCK-overexpressing cells in a steady state during chemostat growth were applied to monitor intracellular reactive oxygen species (ROS). Higher amount of intracellular ROS were observed as the ATP levels increased. To confirm the hypothesis of slower growth rate without perturbation of the carbon flux by PCK-overexpression, phototrophic Gloeobacter rhodopsin (GR) was expressed. The GR-expressing strain under illumination harbored 81% more ATP concentration along with 82% higher ROS, with a 54% slower maximum growth rate than the control, while both the GR-expressing strain under dark and dicarboxylate transporter (a control membrane protein)-expressing strain showed a lower ATP and increased ROS, and slower growth rate. Regardless of carbon flux changes, the artificial ATP increase was related to the ROS increase and it was reciprocally correlated to the maximum growth rate. To verify that the accumulated intracellular ROS were responsible for the growth retardation, glutathione was added to the medium to reduce the ROS. As a result, the growth retardation was restored by the addition of 0.1 mM glutathione. Anaerobic culture even enabled the artificial ATP

  18. The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat)

    PubMed Central

    Bisaillon, Jason J.; Radden, Legairre A.; Szabo, Eric T.; Hughes, Samantha R.; Feliciano, Aaron M.; Nesta, Alex V.; Petrovic, Belinda; Palanza, Kenneth M.; Lancinskas, Dainius; Szmurlo, Theodore A.; Artus, David C.; Kapper, Martin A.; Mulrooney, James P.; King, Thomas R.

    2014-01-01

    Because of the similar phenotypes they generate and their proximate reported locations on Chromosome 7, we tested the recessive retarded hair growth (rhg) and frizzy (fr) mouse mutations for allelism, but found instead that these defects complement. To discover the molecular basis of rhg, we analyzed a large intraspecific backcross panel that segregated for rhg and restricted this locus to a 0.9 Mb region that includes fewer than ten genes, only five of which have been reported to be expressed in skin. Complementation testing between rhg and a recessive null allele of fibroblast growth factor receptor 2 eliminated Fgfr2 as the possible basis of the retarded hair growth phenotype, but DNA sequencing of another of these candidates, ornithine aminotransferase (Oat), revealed a G to C transversion specifically associated with the rhg allele that would result in a glycine to alanine substitution at residue 353 of the gene product. To test whether this missense mutation might cause the mutant phenotype, we crossed rhg/rhg mice with mice that carried a recessive, perinatal-lethal, null mutation in Oat (designated OatΔ herein). Hybrid offspring that inherited both rhg and OatΔ displayed markedly delayed postnatal growth and hair development, indicating that these two mutations are allelic, and suggesting strongly that the G to C mutation in Oat is responsible for the retarded hair growth phenotype. Comparisons among +/+, rhg/+, rhg/rhg and rhg/OatΔ mice showed plasma ornithine levels and ornithine aminotransferase activities (in liver lysates) consistent with this assignment. Because histology of 7- and 12-month-old rhg/rhg and rhg/OatΔ retinas revealed chorioretinal degeneration similar to that described previously for OatΔ/OatΔ mice, we suggest that the rhg mutant may offer an ideal model for gyrate atrophy of the choroid and retina (GACR) in humans, which is also caused by the substitution of glycine 353 in some families. PMID:25264521

  19. Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.

    PubMed

    Hou, Jia-Woei

    2004-05-01

    Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature. PMID:15366814

  20. Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

    PubMed Central

    Behjati, Farkhondeh; Ghasemi Firouzabadi, Saghar; Sajedi, Firoozeh; Kahrizi, Kimia; Najafi, Mostafa; Ebrahimizade Ghasemlou, Behruz; Shafeghati, Yousef; Behnia, Fatemeh; Mohammadi Arya, Ali Reza; Karimi, Hossein; Hadipour, Fatemeh; Hadipour, Zahra; Jamali, Peyman; Kariminejad, Roxana; Darvish, Hossein; Bahman, Ideh; Bagherizadeh, Eiman; Najmabadi, Hossein; Vameghi, Roshanak

    2013-01-01

    Background Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age. Objectives The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 selected patients with idiopathic mental retardation (IMR) in Iran. Materials and Methods A number of 100 patients with IMR, normal karyotypes and negative fragile-X and metabolic tests were screened for subtelomeric abnormalities using MLPA technique. Results Nine of 100 patients showed subtelomeric abnormalities with at least one of the two MLPA kits. Deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. Duplication was only single and was present in 2 patients. Three patients were found to have both a deletion and duplication.MLPA testing in the parental samples of 7 patients which was accessible showed that 4 patients were de novo, 2 patients had inherited from a clinically normal mother, and one had inherited from a clinically normal father. Screening with the two MLPA kits (SALSA P036 and SALSA P070) proved abnormality in only five of the 9 patients. Conclusions So, the prevalence rate of abnormal subtelomeres using MLPA technique in patients with idiopathic MR in our study was 5 - 9%, the higher limit referring to the positive results of one of the two MLPA kits, and the lower limit representing the results of positive double-checking with the two MLPA kits. PMID:24693374

  1. Zinc status and its relation to growth retardation in children with chronic inflammatory bowel disease.

    PubMed

    Nishi, Y; Lifshitz, F; Bayne, M A; Daum, F; Silverberg, M; Aiges, H

    1980-12-01

    Zinc status was studied in 30 patients with chronic inflammatory bowel disease (CIBD) as well as in 17 normal children, 13 primordial short stature, and 17 anorexia nervosa patients. Basal serum and urinary excretion levels of zinc were measured in all patients. In addition, a zinc loading test was performed in 16 CIBD patients, 21 normal and/or short stature children, and nine patients with anorexia nervosa. Eleven of 30 patients with CIBD had serum zinc values less than 0.7 microgram/ml, whereas none of the other patients had hypozincemia. In addition, the mean urinary zinc excretion of CIBD patients was significantly lower than that of patients with primordial short stature and with anorexia nervosa. An altered response to oral zinc load was the most frequent abnormality in CIBD patients. Those with moderate and severe clinical disease activity had a decreased serum rise of zinc after the oral load of this ion. Urinary excretion of zinc after oral load was also marked by deficiency in all CIBD patients. The abnormalities of zinc metabolism were more frequent among the CIBD patients with growth abnormalities, although they were also found in patients who had normal growth. Among the 14 patients with CIBD and growth abnormalities, seven were hypozincemic and four hypozincuric. Hypozincemia was only found in four patients who had normal height; however, the growth velocity was not known. The zinc tolerance test revealed abnormalities in four of five CIBD patients with short stature and in two of three patients with slow growth. On the other hand, similar alterations in zinc tolerance tests were seen in three of seven CIBD patients with normal height and growth. PMID:7435430

  2. Retarded Embryo Development 1 (RED1) regulates embryo development, seed maturation and plant growth in Arabidopsis.

    PubMed

    Du, Qian; Wang, Huanzhong

    2016-07-20

    Plant seeds accumulate large amounts of protein and carbohydrate as storage reserves during maturation. Thus, understanding the genetic control of embryo and seed development may provide bioengineering tools for yield improvement. In this study, we report the identification of Retarded Embryo Development 1 (RED1) gene in Arabidopsis, whose two independent T-DNA insertion mutant lines, SALK_085642 (red1-1) and SALK_022583 (red1-2), show a retarded embryo development phenotype. The embryogenesis process ceases at the late heart stage in red1-1 and at the bent-cotyledon stage in red1-2, respectively, resulting in seed abortion in both lines. The retarded embryo development and seed abortion phenotypes reverted to normal when RED1 complementation constructs were introduced into mutant plants. Small red1-2 homozygous plants can be successfully rescued by culturing immature seeds, indicating that seed abortion likely results from compromised tolerance to the desiccation process associated with seed maturation. Consistent with this observation, red1-2 seeds accumulate less protein, and the expression of two late embryo development reporter transgenes, LEA::GUS and β-conglycinin::GUS, was significantly weak and started relatively late in the red1-2 mutant lines compared to the wild type. The RED1 gene encodes a plant specific novel protein that is localized in the nucleus. These results indicate that RED1 plays important roles in embryo development, seed maturation and plant growth. PMID:27477025

  3. Growth retardation due to panhypopituitarism and central diabetes insipidus following Russell's viper bite.

    PubMed

    Golay, Vishal; Roychowdhary, Arpita; Pandey, Rajendra; Pasari, Amit; Praveen, Malvade; Arora, Puneet; Sarkar, Dipankar

    2013-07-01

    Russell's viper envenomation and its related complications, especially acute kidney injury, is an important cause of morbidity and mortality in tropical developing countries of South Asia. Unusual complications, especially hypopituitarism, are rare and probably missed due to lack of clinical suspicion and diagnostic facilities. We report a rare presentation of growth retardation resulting from hypopituitarism due to Russell's viper envenomation along with central diabetes insipidus. Awareness of the fact that hypopituitarism may occur in this clinical setting is necessary for early diagnosis and treatment, especially among general care practitioners taking care of these patients. PMID:24050105

  4. HCl-Retarded Gold Nanorod Growth for Aspect Ratio and Shape Tuning.

    PubMed

    Wang, Yun; Guo, Yuan; Shen, Yuanyuan; Chen, Rongjun; Wang, Feihu; Zhou, Dejian; Guo, Shengrong

    2016-01-01

    Traditionally, gold nanorods (GNRs) are mostly prepared via a seed-mediated growth approach, which usually produce an initial burst growth followed by slower kinetics and generate dogbone- shaped GNRs with relatively small aspect ratios (ARs). We demonstrate here that the growth of GNRs can be effectively retarded by addition of hydrochloric acid (HCl), leading to the formation of symmetric, long GNRs with high ARs. Furthermore, time-dependent kinetic analysis of GNR growth reveals two completely different growth modalities: in the absence of HCl, the GNR growth is rapid, reaching a concentration of 0.64 nM in 10 min. Its AR also rapidly reaches a maximum value of 4.1 at 2 min and then gradually decreases to 3.3 over 5 h. In sharp contrast, in the presence of HCI additive, the GNR growth happens very slowly, reaching a concentration of 0.33 nM at 7 h, and the AR also grows slowly to reach a maximum value of 5.3 at 3 h. These growth modalities endow different formation mechanisms of GNRs, which determine their aspect ratios and shape. PMID:27398586

  5. Kinetics of Growth Retardant and Hormone Interactions in Affecting Cucumber Hypocotyl Elongation 1

    PubMed Central

    Moore, Thomas C.

    1967-01-01

    The capacities of indole-3-acetic acid (IAA) and gibberellin A3 (GA3) to counteract the inhibitory effects of (2-chloroethyl) trimethylammonium chloride (CCC), 2-isopropyl-4-dimethylamino-5-methylphenyl-1-piperidinecarboxylate methyl chloride (Amo-1618), and N,N-dimethylaminosuccinamic acid (B-995) on hypocotyl elongation in light-grown cucumber (Cucumis sativus L.) seedlings were investigated. One μg of GA3 applied to the shoot tip was sufficient to completely nullify the effect of 10 μg of Amo-1618 or 25 μg of B-995 applied simultaneously to the shoot tip, and 10 μg of GA3 completely counteracted the effect of 10−3 m CCC added to the root medium. One μg of IAA counteracted the effect of 10−3 m CCC in the root medium, but IAA did not nullify the action of either Amo-1618 or B-995. Experiments were conducted using 2 growth retardants simultaneously, which indicated that Amo-1618 and CCC inhibit a common process, namely GA biosynthesis, essential to hypocotyl elongation. However, since the effect of CCC was overcome by applications of both GA and IAA, growth retardation resulting from treatment with CCC apparently is not due solely to inhibition of GA biosynthesis. B-995 did not interact additively with either Amo-1618 or CCC, which suggests that B-995 affects a process different from those affected by the other 2 retardants. Thus, while inhibition evoked by B-995 is reversible by applied GA, the action of B-995 does not appear to be inhibition of GA biosynthesis. PMID:16656555

  6. Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism.

    PubMed

    Hsu, Jung-Yu C; Stein, Stuart A; Xu, Xiao-Ming

    2008-11-01

    Thyroid hormone deficiency may cause severe neurological disorders resulting from developmental deficits of the central nervous system. The mutant hyt/hyt mouse, characterized by fetal-onset, life-long hypothyroidism resulting from a point mutation of the thyroid-stimulating hormone receptor of the thyroid gland, displays a variety of abnormalities in motor behavior that are likely associated with dysfunctions of specific brain regions and a defective corticospinal tract (CST). To test the hypothesis that fetal and neonatal hypothyroidism cause abnormal CST development, the growth of the CST was investigated in hypothyroid hyt/hyt mice and their euthyroid progenitors, the BALB/cByJ mice. Anterograde labeling with biotinylated dextran amine demonstrated a decrease in the number of CST axons in the hyt/hyt mouse at the first lumbar level at postnatal day (P) 10. After retrograde tracing with fast blue (FB), fewer FB-labeled neurons were found in the motor cortex, the red nucleus, and the lateral vestibular nucleus of the hyt/hyt mouse. At the fourth lumbar level, the hyt/hyt mouse also showed smaller CST cross-sectional areas and significantly lower numbers of unmyelinated axons, myelinated axons, and growth cones within the CST during postnatal development. At P10, the hyt/hyt mouse demonstrated significantly lower immunoreactivity of embryonic neural cell adhesion molecule in the CST at the seventh cervical level, whereas the expression of growth-associated protein 43 remained unchanged. Our study demonstrated an abnormal development of the CST in the hyt/hyt mouse, manifested by reduced axon quantity and retarded growth pattern at the lumbar spinal cord. PMID:18543337

  7. Excimer laser phototherapy for the dissolution of abnormal growth

    DOEpatents

    Gruen, Dieter M.; Young, Charles E.; Pellin, Michael J.

    1987-01-01

    Removal of abnormal human tissue with reduced thermal damage is achieved by selecting a laser having a wavelength in the order of 290-400 nm, orienting a laser-transmitting glass member toward the abnormal tissue and directing the laser through the glass member at power densities, pulse rates, and times sufficient to cause multiphoton absorption and bond breaking by Coulomb repulsion rather than thermal destruction. The glass member may include a laser beam concentrator provided by a lens or cone at the tissue-treatment end to increase the beam energy per unit area and reduce the treatment area.

  8. Excimer laser phototherapy for the dissolution of abnormal growth

    DOEpatents

    Gruen, D.M.; Young, C.E.; Pellin, M.J.

    1985-02-19

    Removal of abnormal human tissue with reduced thermal damage is achieved by selecting a laser having a wavelength in the order of 290 to 400 nm, orienting a laser-transmitting glass member toward the abnormal tissue and directing the laser through the glass member at power densities, pulse rates, and times sufficient to cause multiphoton absorption and bond breaking by Coulomb repulsion rather than thermal destruction. The glass member may include a laser beam concentrator provided by a lens or cone at the tissue-treatment end to increase the beam energy per unit area and reduce the treatment area. 6 figs.

  9. Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

    PubMed Central

    Lindgren, Amelia M.; Hoyos, Tatiana; Talkowski, Michael E.; Hanscom, Carrie; Blumenthal, Ian; Chiang, Colby; Ernst, Carl; Pereira, Shahrin; Ordulu, Zehra; Clericuzio, Carol; Drautz, Joanne M.; Rosenfeld, Jill A.; Shaffer, Lisa G.; Velsher, Lea; Pynn, Tania; Vermeesch, Joris; Harris, David J.; Gusella, James F.; Liao, Eric C.

    2013-01-01

    We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybridization and whole-genome sequencing demonstrated that the X chromosome breakpoint disrupts KDM6A in the second intron. No genes were directly disrupted on chromosome 5. KDM6A is a histone 3 lysine 27 demethylase and a histone 3 lysine 4 methyl-transferase. Expression of KDM6A is significantly reduced in DGAP100 lymphoblastoid cells compared to control samples. We identified nine additional cases with neurodevelopmental delay and various other features consistent with the DGAP100 phenotype with copy number variation encompassing KDM6A from microarray databases. We evaluated haploinsufficiency of kdm6a in a zebrafish model. kdm6a is expressed in the pharyngeal arches and ethmoid plate of the developing zebrafish, while a kdm6a morpholino knockdown exhibited craniofacial defects. We conclude KDM6A dosage regulation is associated with severe and diverse structural defects and developmental abnormalities. PMID:23354975

  10. The Role of Mucosal Defense in Intestinal Injury of Infants With Fetal Growth Retardation

    PubMed Central

    Panakhova, Nushaba F.

    2016-01-01

    Background: Infants with fetal growth retardation (FGR) are prone to intestinal disorders. Objectives: Aim of the study was to determine the role of mucosal defense ability in formation of gut injury in infants with FGR. Materials and Methods: 44 premature infants who were admitted to the Neonatal Intensive Care Unit were divided into two groups: 20 infants with FGR (FGR group) and 24 appropriate-for-gestational age newborns (AGA group). Control group consisted of 22 premature infants who were delivered after uncomplicated pregnancy. Gut barrier function was evaluated by detecting serum intestinal trefoil factor (ITF) and intestinal fatty acid binding protein (IFABP). The level of serum IFABP and ITF was measured by using ELISA method. Results: FGR group showed significantly higher ITF concentration than AGA group on the first days of life (P ˂ 0.01). High level of ITF in the FGR group significantly declines up to 7th - 10th day of life (P ˂ 0.01). This reduction was accompanied by increase of IFABP which is a marker of ischemic intestinal mucosal injury. Correlation analyses showed that ITF had a negative correlation with IFABP. Conclusions: Infants with fetal growth retardation are characterized by a high level of ITF on the first days of life. This protects intestinal mucosa under hypoxic conditions. Its subsequent decline accompanied by an increase of IFABP reflects the depletion of Goblet cells to secret ITF causing damage to the integrity of intestinal mucosal barrier. PMID:26848381

  11. The Effect of Intrauterine Growth Retardation on the Expression of Developmental Factors in Porcine Placenta Subsequent to Placentation

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The onset of intrauterine growth retardation (IUGR) hinders fetal growth during gestation and is strongly correlated to a placental weight that has declined below critical threshold. However, little is known about the molecular etiology of this pathology, particularly in swine. In this study, the...

  12. The effects of essential fatty acids preparation in the treatment of intrauterine growth retardation.

    PubMed

    Zhang, L

    1997-10-01

    A treatment of intravenous infusion of glucose, amino acids, and emulsion enriched in essential fatty acids (EFAs), linoleic, and linolenic acids were given to 30 pregnant women with intrauterine growth retardation (IUGR) and 28 non-EFAs treated cases as controls. There was a marked gain in fetal biparietal diameter (BPD) and in the estimated weight of the treated group over the control group. The mean birth weight was significantly different in the two groups. Fetal BPD increased much more in patients treated with EFAs at 28-34 gestational weeks than those at 34 1/7-37 weeks, which indicates that early initiate complement of n-3 and n-6 fatty acids to IUGR mothers may correct pregnancy-induced EFAs deficiency and maternal-fetal malnutrition, which demonstrates a fetal catch-up of growth in the brain and the whole body. PMID:9394162

  13. Cadmium-induced fetal growth retardation: protective effect of excess dietary zinc

    SciTech Connect

    Ahokas, R.A.; Dilts, P.V. Jr.; LaHaye, E.B.

    1980-01-15

    Reproductive performance and fetal cellular growth and development were investigated in laboratory rats chronically fed low drinking water levels (0, 1.0, 10.0, and 100 ..mu..g/ml) of cadmium (Cd), a known embryotoxic trace element, through gestation. Maternal daily food and water consumption, total weight gain, maternal weight gain, and feed efficiency all decreased with increasing Cd consumption. Term fetal weight was significantly less than that of control subjects only in the group fed 100 ..mu..g Cd/ml drinking water. Total litter weight, however, gradually decreased with increasing Cd concentration due to reduced litter size. Fetal growth retardation was a result of decreased cell division (DNA) and cell growth (protein/DNA ratio). When dams were pair-fed the average daily amount of food consumed by those fed 100 ..mu..g Cd/ml drinking water, maternal weight gain and fetal weight, DNA, and protein/DNA ratio were increased, but not to control levels. Dietary zinc (Zn) supplementation (5.0 ..mu..g/ml drinking water) of Cd-fed dams increased maternal food consumption and fetal weight, DNA, and protein/DNA ratio to control levels. Fetal levels of Cd were extremely low (0.038 to 0.095 ..mu..g/gm fetus) and did not increase with increasing Cd consumption, while placental Cd increased more than 10-fold. Fetal Zn was decreased in Cd-fed dams, and Zn supplementation increased fetal Zn levels, but not to control levels.These results suggest that Cd-induced fetal growth retardation is an indirect rather than a direct effect, resulting from reduced maternal food consumption and metabolism. Since dietary Zn blocks these effects, Cd may be a result of induced Zn deficiency.

  14. Malathion exposure induces the endocrine disruption and growth retardation in the catfish, Clarias batrachus (Linn.).

    PubMed

    Lal, Bechan; Sarang, Mukesh Kumar; Kumar, Pankaj

    2013-01-15

    Many hormones are known for their role in the regulation of metabolic activities and somatic growth in fishes. The present study deals with the effects of malathion (an organophosphorous pesticide) on the levels of metabolic hormones that are responsible for promotion of somatic and ovarian growth of the freshwater catfish, Clarias batrachus. Malathion treatment for thirty days drastically reduced the food intake and body weight of fish. These fish also exhibited a great avoidance to food. Exposure of catfish to malathion reduced the levels of thyroxine (T(4)), triiodothyronine (T(3)), growth hormone (GH), insulin like growth factor-I (IGF-I), testosterone (T) and estradiol-17β (E(2)) in a dose dependent manner during all the studied reproductive phases, in general, except that malathion increased the level of GH during the quiescence phase. Significant reduction in muscle and hepatic protein content also occurred in the malathion-treated fish. Malathion exposure induced lipolysis too in the liver and muscle. The results thus support that malathion treatment disrupts the endocrine functions and the olfactory sensation responsible for food intake and gustatory feeding behavior, which ultimately leads to retardation of fish growth. PMID:23174696

  15. Birth Weight, Intrauterine Growth Retardation and Fetal Susceptibility to Porcine Reproductive and Respiratory Syndrome Virus

    PubMed Central

    Ladinig, Andrea; Foxcroft, George; Ashley, Carolyn; Lunney, Joan K.; Plastow, Graham; Harding, John C. S.

    2014-01-01

    The severity of porcine reproductive and respiratory syndrome was compared in pregnant gilts originating from high and low birth weight litters. One-hundred and eleven pregnant gilts experimentally infected with porcine reproductive and respiratory syndrome virus on gestation day 85 (±1) were necropsied along with their fetuses 21 days later. Ovulation rates and litter size did not differ between groups, but fetuses from low birth weight gilts were shorter, lighter and demonstrated evidence of asymmetric growth with large brain:organ weight ratios (i.e. brain sparing). The number of intrauterine growth retarded fetuses, defined by brain:organ weight ratios greater than 1 standard deviation from the mean, was significantly greater in low, compared to high, birth weight gilts. Although γδ T cells significantly decreased over time in high compared to low birth weight gilts, viral load in serum and tissues, gilt serum cytokine levels, and litter outcome, including the percent dead fetuses per litter, did not differ by birth weight group. Thus, this study provided no substantive evidence that the severity of porcine reproductive and respiratory syndrome is affected by dam birth weight. However, intrauterine growth retarded fetuses had lower viral loads in both fetal thymus and in endometrium adjacent to the umbilical stump. Crown rump length did not significantly differ between fetuses that survived and those that died at least one week prior to termination. Taken together, this study clearly demonstrates that birth weight is a transgenerational trait in pigs, and provides evidence that larger fetuses are more susceptible to transplacental PRRSv infection. PMID:25275491

  16. Early recognition of growth abnormalities permitting early intervention

    PubMed Central

    Haymond, Morey; Kappelgaard, Anne-Marie; Czernichow, Paul; Biller, Beverly MK; Takano, Koji; Kiess, Wieland

    2013-01-01

    Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. Conclusion This review summarizes currently available information on monitoring for short stature in children and conditions usually associated with short stature and summarizes the authors’ conclusions on the early recognition of growth disorders. PMID:23586744

  17. Early recognition of growth abnormalities permitting early intervention

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Normal growth is a sign of good health. Monitoring for growth disturbances is fundamental to children's health care. Early detection and diagnosis of the causes of short stature allows management of underlying medical conditions, optimizing attainment of good health and normal adult height. This rev...

  18. Disruption of the Fbxw8 gene results in pre- and postnatal growth retardation in mice.

    PubMed

    Tsutsumi, Takeya; Kuwabara, Hiroshi; Arai, Takehiro; Xiao, Yonghong; Decaprio, James A

    2008-01-01

    CUL7 binds to SKP1, RBX1, and FBXW8 to form a cullin-RING ligase, or an SKP1-cullin-F box protein complex. The targeted disruption of the Cul7 gene in mice results in significant reduction in embryo size and neonatal lethality. In humans, CUL7 was found to be mutated in the 3-M dwarfism syndrome characterized by severe pre- and postnatal growth retardation, indicating that CUL7 is closely associated with human and mouse growth. We generated mice lacking Fbxw8 by gene trapping. Similar to Cul7(-/-) animals, Fbxw8(-/-) embryos and placentas were smaller than wild-type and heterozygous littermates and placentas. Approximately 30% of the expected number of Fbxw8(-/-) mice survived birth, but these mice remained smaller than their wild-type and heterozygous littermates throughout postnatal development. FBXW8 expression was detected in most organs of wild-type mice examined, and the organs in Fbxw8(-/-) mice were smaller than those in wild-type mice. Fbxw8 expression levels were highest in skeletal muscle, cartilage, and lung tissue. Expression profiling revealed elevated levels of insulin-like growth factor binding protein 1 (IGFBP1) transcripts in Fbxw8(-/-) embryos. Furthermore, we observed increased levels of IGFBP2 in Cul7(-/-) as well as Fbxw8(-/-) fibroblasts. These results demonstrate that the FBXW8-CUL7 complex plays a significant role in growth control. PMID:17998335

  19. Regional hypoplasia of somatosensory cortex in growth-retarded mice (grt/grt).

    PubMed

    Sawada, Kazuhiko; Saito, Shigeyoshi; Sugasawa, Akari; Sato, Chika; Aoyama, Junya; Ohara, Naoko; Horiuchi-Hirose, Miwa; Kobayashi, Tetsuya

    2016-07-01

    Growth-retarded mouse (grt/grt) is a spontaneous mutant that is known as an animal model for primary congenital hypothyroidism caused by resistance to TSH signaling. The regional pattern of cerebral cortical hypoplasia was characterized in grt/grt mice. Ex vivo computed tomography (CT)-based volumetry was examined in four regions of the cerebral cortex, i.e., prefrontal, frontal, parietal and occipito-temporal regions, which were demarcated by structural landmarks on coronal CT images. A region-specific reduced volume of the parietal cortical region covering most of the somatosensory cortex was noted in grt/grt mice rather than in both heterozygous (grt/+) and wild-type (+/+) mice. We concluded that the cortical hypoplasia in grt/grt was seen in identical cortical regions corresponding to human congenital hypothyroidism. PMID:26915353

  20. [Early intervention in infants with intrauterine growth retardation: its effects on neuropsychological development].

    PubMed

    Padín-Rojas, Y Y; García Coll, C T; Gómez, G; Bonet, L; Escobar, M; Varcárcel, M

    1991-09-01

    Forty-eight term infants in a tertiary center in Puerto Rico during 1985-86 were monitored prospectively since birth completing a neuropsychological evaluation using the Mental Developmental Index of Bayley Scales. All infants were free from perinatal complications and chronic diseases by clinical evaluation. 25 infants with intrauterine growth retardation (IUGR) and 23 adequate for gestational age (AGA) infants were evaluated. Fourteen IUGR infants were controls and eleven IUGR infants were intervened. However, all AGA infants were used as controls. Mother-infant relationship at one month was scored and none of intervened infants had poor neuropsychological behavior with normal or near normal MDI values. Other relationships and possible explanations are discussed in the article. PMID:1725483

  1. Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

    SciTech Connect

    Barbi, G.; Scheres, J.M.; Schindler, D.; Taalman, R.D.; Rodens, K.; Mehnert, K.; Mueller, M.S.; Seyschab, H. )

    1991-07-01

    The authors report on a microcephalic, growth-retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiectasia (AT) or a related disorder. Supportive evidence was radioresistant DNA synthesis in fibroblasts and radiation hypersensitivity of short-term lymphocyte cultures. Follow-up for nearly 4 years showed largely normal development, and no signs of telangiectasia, ataxia, or immunodeficiency. Serum AFP levels turned from elevated at age 5 months to normal at age 2 years. They propose that their patient belongs to the expanding category of AT-related genetic disorders, probably to the Nijmegen breakage syndrome.

  2. Corticosteroid-induced mandibular growth retardation and palatal malformation in the ICR mouse fetus.

    PubMed Central

    Silbermann, M; Levitan, S

    1979-01-01

    Pregnant ICR mice were treated with triamcinolone hexacetonide at various stages of gestation. The mandibular ramus and its condylar cartilage were studied histologically in both viable and non-viable offspring. In addition, measurements were made of the overall height of the posterior vertical dimension of the mandible and of condylar height and width. Significant changes were noted in these parameters. Concomitantly, marked changes were observed in the various zones of the condylar cartilage. A very high incidence of cleft palate was noted in newborn and stillborn mice previously treated with triamcinolone. A possible correlation between mandibular growth retardation and palatal clefting is discussed. Images Fig. 4 Fig. 5 Fig. 9 Fig. 10 Fig. 11 Fig. 12 Fig. 13 Fig. 14 Fig. 15 PMID:489465

  3. Unstressed antepartum cardiotocography in the management of the fetus suspected of growth retardation.

    PubMed

    Flynn, Anna M; Kelly, J; O'Conor, M

    2014-12-01

    A detailed analysis of the antenatal cardiotocographs (CTGs) in 57 patients with suspected fetal growth retardation is presented. Four traces were normal and 53 were 'non-reactive. 'Non-reactive' traces can be sub-divided into three categories, which, in order of severity are, 'suspect', 'flat' and 'ominous'. When compared with the 'suspect' group, perinatal mortality was significantly increased and the Apgar scores at one and five minutes significantly decreased in the 'flat' and 'ominous' groups. The presence of fetal distress in labour was significantly higher in the 'flat' group as compared with the 'suspect' group. Intrauterine deaths occurred only in the 'ominous' group. With experience, ten patients later in the series with 'ominous' patterns were delivered within 24 hours of the detection of such and nine infants survived. At follow-up between 6 and 34 months after birth, psychomotor development was normal in 47 of the 49 surviving infants. PMID:25488082

  4. Intrauterine Growth Retardation (IUGR) as a Novel Condition of Insulin-Like Growth Factor-1 (IGF-1) Deficiency.

    PubMed

    Martín-Estal, I; de la Garza, R G; Castilla-Cortázar, I

    2016-01-01

    Insulin-like growth factor 1 (IGF-1) is an anabolic hormone with several biological activities, such as proliferation, mitochondrial protection, cell survival, tissue growth and development, anti-inflammatory, antioxidant, antifibrogenic and antiaging. This hormone plays an important role in embryological and postnatal states, being essential for normal foetal and placental growth and differentiation. During gestation, the placenta is one of the major sources of IGF-1, among other hormones. This intrauterine organ expresses IGF-1 receptors and IGF-1 binding proteins (IGFBPs), which control IGF-1 activities. Intrauterine growth restriction (IUGR) is the second most frequent cause of perinatal morbidity and mortality, defined as the inability to achieve the expected weight for gestational age. Different studies have revealed that IUGR infants have placental dysfunction and low circulating levels of insulin, IGF-1, IGF-2 and IGFBPs. Such data suggest that IGF-1 deficiency in gestational state may be one of the major causes of foetal growth retardation. The aim of this review is to study the epidemiology, physiopathology and possible causes of IUGR. Also, it intends to study the possible role of the placenta as an IGF-1 target organ. The purpose is to establish if IUGR could be considered as a novel condition of IGF-1 deficiency and if its treatment with low doses of IGF-1 could be a suitable therapeutic strategy. PMID:26634242

  5. The Effects of Grain Size and Texture on Dynamic Abnormal Grain Growth in Mo

    NASA Astrophysics Data System (ADS)

    Noell, Philip J.; Taleff, Eric M.

    2016-07-01

    This is the first report of abnormal grain morphologies specific to a Mo sheet material produced from a commercial-purity arc-melted ingot. Abnormal grains initiated and grew during plastic deformation of this material at temperatures of 1793 K and 1813 K (1520 °C and 1540 °C). This abnormal grain growth during high-temperature plastic deformation is termed dynamic abnormal grain growth, DAGG. DAGG in this material readily consumes nearly all grains near the sheet center while leaving many grains near the sheet surface unconsumed. Crystallographic texture, grain size, and other microstructural features are characterized. After recrystallization, a significant through-thickness variation in crystallographic texture exists in this material but does not appear to directly influence DAGG propagation. Instead, dynamic normal grain growth, which may be influenced by texture, preferentially occurs near the sheet surface prior to DAGG. The large grains thus produced near the sheet surface inhibit the subsequent growth of the abnormal grains produced by DAGG, which preferentially consume the finer grains near the sheet center. This produces abnormal grains that span the sheet center but leave unconsumed polycrystalline microstructure near the sheet surface. Abnormal grains are preferentially oriented with the < 110rangle approximately along the tensile axis. These results provide additional new evidence that boundary curvature is the primary driving force for DAGG in Mo.

  6. Hypothalamic versus pituitary dysfunction in Down's syndrome as cause of growth retardation.

    PubMed

    Castells, S; Beaulieu, I; Torrado, C; Wisniewski, K E; Zarny, S; Gelato, M C

    1996-12-01

    We have found that some children with Down's syndrome (DS) have growth retardation secondary to growth hormone (GH) deficiency. To test the hypothesis that hypothalamic dysfunction is the primary cause for GH deficiency and growth retardation, hypothalamic-pituitary responses of serum GH concentrations to levodopa and clonidine as well as pituitary responses in serum GH concentrations to growth-hormone-releasing hormone (GHRH) were analysed in 14 prepubertal children with DS. Levodopa and clonidine were given, and blood was drawn for determining serum GH levels. Seven prepubertal control children had both levodopa and clonidine tests done. The delta serum GH during levodopa was 5.7 +/- 6.3 ng ml-1 in DS and 13.1 +/- 9.8 ng ml-1 in controls. The delta serum GH during clonidine administration was 3.0 +/- 3.2 ng ml-1 in DS and 17.3 +/- 5.6 ng ml-1 in controls. Children with DS had a significantly lower response to levodopa and clonidine, compared with controls by the Mann-Whitney U-test (P < 0.03 and P < 0.009, respectively). Growth-hormone-releasing hormone was given at 1 microgram kg-1 i.v. bolus and bloods for GH were drawn at-15, 0, 15, 30, 60, 90 and 120 min in 14 subjects with DS and 24 normal controls, both groups prepubertal. The mean delta serum GH concentration in DS was 53.6 +/- 38.3 ng ml-1, and it was 35.6 +/- 25.1 ng ml-1 in controls with P < 0.23 non-significant by the Mann-Whitney U-test. These results indicate that levodopa and clonidine (drugs stimulating hypothalamic GHRH release and secondary pituitary GH release in normal individuals) do not stimulate GH release in DS. Furthermore, normal GH response to GHRH in DS indicates normal pituitary function (normal somatotroph response to GHRH) and supports hypothalamic dysfunction in DS. PMID:9004111

  7. Diet-Induced Obesity Model: Abnormal Oocytes and Persistent Growth Abnormalities in the Offspring

    PubMed Central

    Jungheim, Emily S.; Schoeller, Erica L.; Marquard, Kerri L.; Louden, Erica D.; Schaffer, Jean E.; Moley, Kelle H.

    2010-01-01

    Associations between maternal obesity and adverse fetal outcomes are well documented, but the mechanisms involved are largely unknown. Most previous work has focused on postconceptional events, however, our laboratory has shown pre- and periconceptional aberrations in maternal glucose metabolism have adverse effects on oocytes and embryos that carry on to the fetus. To demonstrate effects of maternal obesity in the pre- and periconceptional periods, we compared reproductive tissues from diet-induced obese female mice to those of control mice. Ovaries were either stained for follicular apoptosis or dissected and evaluated for oocyte size and meiotic maturation. Mice were also mated and followed for reproductive outcomes including preimplantation embryonic IGF-I receptor (IGF-IR) immunostaining, midgestation fetal growth, and midgestational placental IGF receptor 2 (Igf2r) mRNA. Delivered pups were followed for growth and development of markers of metabolic syndrome. Compared with controls, obese mice had significantly more apoptotic ovarian follicles, smaller and fewer mature oocytes, decreased embryonic IGF-IR staining, smaller fetuses, increased placental Igf2r mRNA, and smaller pups. All weaned pups were fed a regular diet. At 13 wk pups delivered from obese mice were significantly larger, and these pups demonstrated glucose intolerance and increased cholesterol and body fat suggesting early development of a metabolic-type syndrome. Together, our findings suggest maternal obesity has adverse effects as early as the oocyte and preimplantation embryo stage and that these effects may contribute to lasting morbidity in offspring, underscoring the importance of optimal maternal weight and nutrition before conception. PMID:20573727

  8. Retardation of cell growth by avian reovirus p17 through the activation of p53 pathway

    SciTech Connect

    Liu, H.-J.; Lin, P.-Y.; Lee, J.-W.; Hsu, H.-Y.; Shih, W.-L. . E-mail: shihwl@mail.tcu.edu.tw

    2005-10-21

    The second open reading frame of avian reovirus S1 gene segment encodes a 17 kDa non-structural protein, named p17. The biological role of p17 is fully unknown so far. Using trypan blue dye exclusion and MTT assay, we demonstrated that the ectopic expression of p17 results in the reduction of viable cell number and cell proliferation rate of Vero, BHK, 293, and HeLa cells. Measurement of LDH activity and DNA fragmentation analysis revealed that p17 expression did not cause cell death or apoptosis. These data indicated that the p17 possessed the growth retardation function. Semi-quantitative RT-PCR and Western blotting revealed that p17-expressing cells induced the expression of CDK inhibitor p21{sup cip1/waf1} in a time- and dose-dependent manner, but the transcripts of CDK inhibitor p15{sup INK4b}, p16{sup INK4a}, or p27{sup kip} were not altered. In the presence of p17, the p53 protein level and p53-driven reporter activity were elevated significantly. Dominant negative p53 alleviated the p21 accumulation, p53 activation, and growth inhibition effect induced by p17. Taken together, these studies revealed a possible intrinsic function of p17 in growth regulation through the activation of p53 and p21{sup cip1/waf1}.

  9. Study of Abnormal Vertical Emittance Growth in ATF Extraction Line

    SciTech Connect

    Alabau, M.; Faus-Golfe, A.; Alabau, M.; Bambade, P.; Brossard, J.; Le Meur, G.; Rimbault, C.; Touze, F.; Angal-Kalinin, D.; Jones, J.K.; Appleby, R.; Scarfe, A.; Kuroda, S.; White, G.R.; Woodley, M.; Zimmermann, F.; /CERN

    2011-11-04

    Since several years, the vertical beam emittance measured in the Extraction Line (EXT) of the Accelerator Test Facility (ATF) at KEK, that will transport the electron beam from the ATF Damping Ring (DR) to the future ATF2 Final Focus beam line, is significantly larger than the emittance measured in the DR itself, and there are indications that it grows rapidly with increasing beam intensity. This longstanding problem has motivated studies of possible sources of this anomalous emittance growth. One possible contribution is non-linear magnetic fields in the extraction region experimented by the beam while passing off-axis through magnets of the DR during the extraction process. In this paper, simulations of the emittance growth are presented and compared to observations. These simulations include the effects of predicted non-linear field errors in the shared DR magnets and orbit displacements from the reference orbit in the extraction region. Results of recent measurements using closed orbit bumps to probe the relation between the extraction trajectory and the anomalous emittance growth are also presented.

  10. Ocimum gratissimum retards breast cancer growth and progression and is a natural inhibitor of matrix metalloproteases

    PubMed Central

    Nangia-Makker, Pratima; Raz, Tirza; Tait, Larry; Shekhar, Malathy P.V.; Li, Hong; Balan, Vitaly; Makker, Hemanckur; Fridman, Rafael; Maddipati, Krishnarao; Raz, Avraham

    2013-01-01

    Ocimum genus (a.k.a holy basil or tulsi) is a dietary herb used for its multiple beneficial pharmacologic properties including anti-cancer activity. Here we show that crude extract of Ocimum gratissimum (OG) and its hydrophobic and hydrophilic fractions (HB and HL) differentially inhibit breast cancer cell chemotaxis and chemoinvasion in vitro and retard tumor growth and temporal progression of MCF10ADCIS.com xenografts, a model of human breast comedo-ductal carcinoma in situ (comedo-DCIS). OG-induced inhibition of tumor growth was associated with decreases in basement membrane disintegration, angiogenesis and MMP-2 and MMP-9 activities as confirmed by in situ gelatin zymography and cleavage of galectin-3. There was also decrease in MMP-2 and MMP-9 activities in the conditioned media of OG-treated MCF10AT1 and MCF10AT1-EIII8 premalignant human breast cancer cells as compared with control. The MMP-2 and MMP-9 inhibitory activities of OG were verified in vitro using gelatin, a synthetic fluorogenic peptide and recombinant galectin-3 as MMP substrates. Mice fed on OG-supplemented drinking water showed no adverse effects compared with control. These data suggest that OG is non-toxic and that the anti-cancer therapeutic activity of OG may in part be contributed by its MMP inhibitory activity. PMID:23380593

  11. The Arabidopsis EIN2 restricts organ growth by retarding cell expansion

    PubMed Central

    Feng, Guanping; Liu, Gang; Xiao, Jianhua

    2015-01-01

    The growth of plant organ to its characteristic size is a fundamental developmental process, but the mechanism is still poorly understood. Plant hormones play a great role in organ size control by modulating cell division and/or cell expansion. ETHYLENE INSENSITVE 2 (EIN2) was first identified by a genetic screen for ethylene insensitivity and is regarded as a central component of ethylene signaling, but its role in cell growth has not been reported. Here we demonstrate that changed expression of EIN2 led to abnormity of cell expansion by morphological and cytological analyses of EIN2 loss-of-function mutants and the overexpressing transgenic plant. Our findings suggest that EIN2 controls final organ size by restricting cell expansion. PMID:26039475

  12. Flame retardants

    NASA Technical Reports Server (NTRS)

    Troitzsch, J.

    1988-01-01

    The use of flame retardants in plastics has grown only slightly in recent years and will probably grow slowly in the future. The reasons for this are slow economic growth and the absence of fundamentally new requirements for future fire prevention. The trends are toward the increasing use of easily handled, dust-free and well-dispersed flame retardant compounds and master batches; there are no spectacular new developments. In the future, questions of smoke evolution, toxicity and corrosiveness of combustion gases will become increasingly important, especially due to new regulations and rising requirements for environmental protection.

  13. [Use of translational medicine in the early diagnosis of xenobiotic-induced intrauterine growth retardation].

    PubMed

    Liu, Yan-Song; Wang, Hui

    2011-01-01

    Translational medicine is an emerging idea in current medical research area. Typically, for the purpose of bridging the gap between basic and clinical research, it not only emphasizes the urgency and necessity to break the traditional working formats, including single subject centered research team and limited cooperation among different scientific groups, but also highlights a more close and frequent interaction between basic scientist and clinician. In order to reach this goal, the theory and method of systems biology should be employed. This paper mainly focused on a central issue that how to carry out an investigation on early clinical diagnosis of xenobiotic-induced intrauterine growth retardation (IUGR) by using research concept of translational medicine and method of systems biology. Briefly, a hypothesis of common mechanism of IUGR was first proposed and subsequent validation was performed via integrating--omics (e.g. genomics, proteomics, cytomics, metabonomics/metabolomics) and molecular biology techniques. Metabonomics was further utilized to explore IUGR biomarker and establish preliminary forecasting model by bioinformatics and computational biology, which is available for early diagnosis of IUGR and make a complement to current evaluation criteria. PMID:21465805

  14. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

    PubMed

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N; Muzny, Donna M; Tarailo-Graovac, Maja; van Karnebeek, Clara D M; Lupski, James R; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  15. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

    PubMed Central

    Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka; Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo-Graovac, Maja; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace

    2016-01-01

    Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent “leak” channels, important for the establishment and maintenance of resting membrane potentials upon which action potentials are generated, are not well established in human disease. UNC80 is a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. Loss-of-function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF). We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. Compared to control cells, HEK293T cells transfected with an expression plasmid containing the c.5098C>T (p.Pro1700Ser) UNC80 mutation found in one individual showed markedly decreased NALCN channel currents. Our findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health. PMID:26708751

  16. Growth Retardation, DNA Repair Defects, and Lack of Spermatogenesis in BRCA1-Deficient Mice

    PubMed Central

    Cressman, Victoria L.; Backlund, Dana C.; Avrutskaya, Anna V.; Leadon, Steven A.; Godfrey, Virginia; Koller, Beverly H.

    1999-01-01

    BRCA1 is a nuclear phosphoprotein expressed in a broad spectrum of tissues during cell division. The inheritance of a mutant BRCA1 allele dramatically increases a woman’s lifetime risk for developing both breast and ovarian cancers. A number of mouse lines carrying mutations in the Brca1 gene have been generated, and mice homozygous for these mutations generally die before day 10 of embryonic development. We report here the survival of a small number of mice homozygous for mutations in both the p53 and Brca1 genes. The survival of these mice is likely due to additional unknown mutations or epigenetic effects. Analysis of the Brca1−/− p53−/− animals indicates that BRCA1 is not required for the development of most organ systems. However, these mice are growth retarded, males are infertile due to meiotic failure, and the mammary gland of the female mouse is underdeveloped. Growth deficiency due to loss of BRCA1 was more thoroughly examined in an analysis of primary fibroblast lines obtained from these animals. Like p53−/− fibroblasts, Brca1−/− p53−/− cells proliferate more rapidly than wild-type cells; however, a high level of cellular death in these cultures results in reduced overall growth rates in comparison to p53−/− fibroblasts. Brca1−/− p53−/− fibroblasts are also defective in transcription-coupled repair and display increased sensitivity to DNA-damaging agents. We show, however, that after continued culture, and perhaps accelerated by the loss of BRCA1 repair functions, populations of Brca1−/− p53−/− fibroblasts with increased growth rates can be isolated. The increased survival of BRCA1-deficient fibroblasts in the absence of p53, and with the subsequent accumulation of additional growth-promoting changes, may mimic the events that occur during malignant transformation of BRCA1-deficient epithelia. PMID:10490643

  17. Hypothalamic expression of human growth hormone induces post-pubertal hypergonadotrophism in male transgenic growth retarded rats.

    PubMed

    Davies, J S; Thompson, N M; Christian, H C; Pinilla, L; Ebling, F J P; Tena-Sempere, M; Wells, T

    2006-10-01

    Growth hormone (GH) is known to regulate peripheral components of the hypothalamo-pituitary gonadal (HPG) axis, but it remains unclear whether GH exerts a significant influence on the activity of the hypothalamo-pituitary components of the HPG axis. In this study, we investigated the development of HPG axis function in the male transgenic growth retarded (Tgr) rat, a model of moderate systemic GH deficiency caused by hypothalamic expression of human (h)GH. Impaired postnatal somatotroph expansion and moderate GH deficiency in male Tgr rats were accompanied by a two- to three-fold increase in pituitary gonadotrophin content, but without a significant change in the pituitary gonadotroph population. A three- to nine-fold elevation in basal circulating luteinising hormone concentration was seen in postpubertal Tgr rats, with a smaller increase in follicle-stimulating hormone. Despite this hypergonadotrophism, there was no corresponding increase in steroidogenic (circulating testosterone and seminal vesicle weights) or gametogenic (spermatozoa counts in seminiferous tubules) activity in the postpubertal Tgr testis. Following puberty, the plasma leptin concentration also became progressively elevated in Tgr males. Circulating gonadotrophin and leptin levels were normalised in Tgr rats by peripheral physiological replacement of rat GH, but plasma testosterone concentration was unaffected. These results confirm that hGH exerts a positive influence on the central control of gonadotrophin secretion in the Tgr rat, but the absence of a corresponding elevation in the steroidogenic or gametogenic function of the Tgr testis implies that the peripheral GH/insulin-like growth factor I axis may also exert a permissive influence on testicular function. The relative contribution of somatogenic and lactogenic mechanisms and the potential influence of elevated leptin and decreased sensitivity to androgen feedback to the development of postpubertal hypergonadotrophism in Tgr males

  18. Fetal PCB syndrome: clinical features, intrauterine growth retardation and possible alteration in calcium metabolism

    SciTech Connect

    Yamashita, F.; Hayashi, M.

    1985-02-01

    Pregnant mothers with Yusho in Fukuoka, Nagasaki and Kochi Prefectures delivered babies with a peculiar clinical manifestation which will be called fetal PCB syndrome (FPS). The birth rate incidences were 3.6% (Fukuoka Prefecture), 4% (Nagasaki Prefecture), 2.9% (Kochi Prefecture) and 3.9% (total). The manifestations consisted of dark brown pigmentation of the skin and the mucous membrane, gingival hyperplasia, exophthalmic edematous eye, dentition at birth, abnormal calcification of the skull as demonstrated by X-ray, rocker bottom heel and high incidence of light for date (low birth weight) babies. The authors suggest that there may be a possible alteration in calcium metabolism in these babies, related to the fragile egg shells observed in PCB-contaminated birds and to the female hormone-enhancing effect of PCB. The high incidence of low birth weight among these newborns and two other similar studies indicated that PCBs suppress fetal growth.

  19. Evolution of Residual-Strain Distribution through an Overload-Induced Retardation Period during Fatigue Crack Growth

    SciTech Connect

    Lee, S. Y.; Sun, Yinan; An, Ke; Choo, Hahn; Hubbard, Camden R; Liaw, Peter K

    2010-01-01

    Neutron diffraction was employed to investigate the crack-growth retardation phenomenon after a single tensile overload by mapping both one-dimensional and two-dimensional residual-strain distributions around the crack tip in a series of compact-tension specimens representing various crack-growth stages through an overload-induced retardation period. The results clearly show a large compressive residual-strain field near the crack tip immediately after the overload. As the fatigue crack propagates through the overload-induced plastic zone, the compressive residual strains are gradually relaxed, and a new compressive residual-strain field is developed around the propagating crack tip, illustrating that the subsequent fatigue-induced plastic zone grows out of the large plastic zone caused by the overloading. The relationship between the overload-induced plastic zone and subsequent fatigue-induced plastic zone, and its influence on the residual-strain distributions in the perturbed plastic zone are discussed.

  20. Growth, Hypothalamic Function, and Brain Ventricle Size in Mentally Retarded Subjects

    ERIC Educational Resources Information Center

    Leisti, S.; Iianainen, M.

    1978-01-01

    To determine whether moderate enlargement of the third brain ventricle or the temporal horns of the lateral ventricles was associated with hypothalamic dysfunction, 15 mentally retarded Ss (ages 12-25 years) with such characteristics were studies. (DLS)

  1. A Pilot Study of Abnormal Growth in Autism Spectrum Disorders and Other Childhood Psychiatric Disorders

    ERIC Educational Resources Information Center

    Rommelse, Nanda N. J.; Peters, Cindy T. R.; Oosterling, Iris J.; Visser, Janne C.; Bons, Danielle; van Steijn, Daphne J.; Draaisma, Jos; van der Gaag, Rutger-Jan; Buitelaar, Jan. K.

    2011-01-01

    The aims of the current study were to examine whether early growth abnormalities are (a) comparable in autism spectrum disorders (ASD) and other childhood psychiatric disorders, and (b) specific to the brain or generalized to the whole body. Head circumference, height, and weight were measured during the first 19 months of life in 129 children…

  2. Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.

    PubMed

    Rozhdestvensky, Timofey S; Robeck, Thomas; Galiveti, Chenna R; Raabe, Carsten A; Seeger, Birte; Wolters, Anna; Gubar, Leonid V; Brosius, Jürgen; Skryabin, Boris V

    2016-01-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by loss of paternally expressed genes on chromosome 15q11-q13. The PWS-critical region (PWScr) contains an array of non-protein coding IPW-A exons hosting intronic SNORD116 snoRNA genes. Deletion of PWScr is associated with PWS in humans and growth retardation in mice exhibiting ~15% postnatal lethality in C57BL/6 background. Here we analysed a knock-in mouse containing a 5'HPRT-LoxP-Neo(R) cassette (5'LoxP) inserted upstream of the PWScr. When the insertion was inherited maternally in a paternal PWScr-deletion mouse model (PWScr(p-/m5'LoxP)), we observed compensation of growth retardation and postnatal lethality. Genomic methylation pattern and expression of protein-coding genes remained unaltered at the PWS-locus of PWScr(p-/m5'LoxP) mice. Interestingly, ubiquitous Snord116 and IPW-A exon transcription from the originally silent maternal chromosome was detected. In situ hybridization indicated that PWScr(p-/m5'LoxP) mice expressed Snord116 in brain areas similar to wild type animals. Our results suggest that the lack of PWScr RNA expression in certain brain areas could be a primary cause of the growth retardation phenotype in mice. We propose that activation of disease-associated genes on imprinted regions could lead to general therapeutic strategies in associated diseases. PMID:26848093

  3. Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice

    PubMed Central

    Rozhdestvensky, Timofey S.; Robeck, Thomas; Galiveti, Chenna R.; Raabe, Carsten A.; Seeger, Birte; Wolters, Anna; Gubar, Leonid V.; Brosius, Jürgen; Skryabin, Boris V.

    2016-01-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by loss of paternally expressed genes on chromosome 15q11-q13. The PWS-critical region (PWScr) contains an array of non-protein coding IPW-A exons hosting intronic SNORD116 snoRNA genes. Deletion of PWScr is associated with PWS in humans and growth retardation in mice exhibiting ~15% postnatal lethality in C57BL/6 background. Here we analysed a knock-in mouse containing a 5′HPRT-LoxP-NeoR cassette (5′LoxP) inserted upstream of the PWScr. When the insertion was inherited maternally in a paternal PWScr-deletion mouse model (PWScrp−/m5′LoxP), we observed compensation of growth retardation and postnatal lethality. Genomic methylation pattern and expression of protein-coding genes remained unaltered at the PWS-locus of PWScrp−/m5′LoxP mice. Interestingly, ubiquitous Snord116 and IPW-A exon transcription from the originally silent maternal chromosome was detected. In situ hybridization indicated that PWScrp−/m5′LoxP mice expressed Snord116 in brain areas similar to wild type animals. Our results suggest that the lack of PWScr RNA expression in certain brain areas could be a primary cause of the growth retardation phenotype in mice. We propose that activation of disease-associated genes on imprinted regions could lead to general therapeutic strategies in associated diseases. PMID:26848093

  4. Microstructural Evolution During Normal/Abnormal Grain Growth in Austenitic Stainless Steel

    NASA Astrophysics Data System (ADS)

    Shirdel, Mohammad; Mirzadeh, Hamed; Habibi Parsa, Mohammad

    2014-10-01

    The grain growth behavior of 304L stainless steel was studied in a wide range of annealing temperatures and times with emphasis on the distinction between normal and abnormal grain growth (AGG) modes. The dependence of AGG (secondary recrystallization) at homologous temperatures of around 0.7 upon microstructural features such as dispersed carbides, which were rich in Ti but were almost free of V, was investigated by optical micrographs, X-ray diffraction patterns, scanning electron microscopy images, and energy dispersive X-ray analysis spectra. The bimodality in grain-size distribution histograms signified that a transition in grain growth mode from normal to abnormal was occurred at homologous temperatures of around 0.7 due to the dissolution/coarsening of carbides. Continued annealing to a long time led to completion of secondary recrystallization and the subsequent reappearance of normal growth mode. Another noticeable abnormality in grain growth was observed at very high annealing temperatures, which may be related to grain boundary faceting/defaceting. Finally, a versatile grain growth map was proposed, which can be used as a practical guide for estimation of the resulting grain size after exposure to high temperatures.

  5. Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease

    PubMed Central

    Contreras, Miguel Agustin; Ries, William Louis; Shanmugarajan, Srinivasan; Arboleda, Gonzalo; Singh, Inderjit; Singh, Avtar Kaur

    2010-01-01

    Krabbe disease is an inherited lysosomal disorder in which galactosylsphingosine (psychosine) accumulates mainly in the central nervous system. To gain insight into the possible mechanism(s) that may be participating in the inhibition of the postnatal somatic growth described in the animal model of this disease (twitcher mouse, twi), we studied their femora. This study reports that twi femora are smaller than of those of wild type (wt), and present with abnormality of marrow cellularity, bone deposition (osteoblastic function), and osteoclastic activity. Furthermore, lipidomic analysis indicates altered sphingolipid homeostasis, but without significant changes in the levels of sphingolipid-derived intermediates of cell death (ceramide) or the levels of the osteoclast-osteoblast coupling factor (sphingosine-1-phosphate). However, there was significant accumulation of psychosine in the femora of adult twi animals as compared to wt, without induction of tumor necrosis factor-alpha or interleukin-6. Analysis of insulin-like growth factor-1 (IGF-1) plasma levels, a liver secreted hormone known to play a role in bone growth, indicated a drastic reduction in twi animals when compared to wt. To identify the cause of the decrease, we examined the IGF-1 mRNA expression and protein levels in the liver. The results indicated a significant reduction of IGF-1 mRNA as well as protein levels in the liver from twi as compared to wt littermates. Our data suggest that a combination of endogenous (psychosine) and endocrine (IGF-1) factors play a role in the inhibition of postnatal bone growth in twi mice; and further suggest that derangements of liver function may be contributing, at least in part, to this alteration. PMID:20441793

  6. Intrauterine growth retardation in Iowa communities with herbicide-contaminated drinking water supplies.

    PubMed Central

    Munger, R; Isacson, P; Hu, S; Burns, T; Hanson, J; Lynch, C F; Cherryholmes, K; Van Dorpe, P; Hausler, W J

    1997-01-01

    In a statewide survey of 856 Iowa municipal drinking water supplies in 1986-1987 the Rathbun rural water system was found to contain elevated levels of triazine herbicides. Rates of low birth weight, prematurity, and intrauterine growth retardation (IUGR) in live singleton births during the period 1984-1990 by women living in 13 communities served by the Rathbun water system were compared to other communities of similar size in the same Iowa counties. The Rathbun communities had a greater risk of IUGR than southern Iowa communities with other surface sources of drinking water (relative risk = 1.8; 95% CI = 1.3, 2.7). Multiple linear regression analyses revealed that levels of the herbicides atrazine, metolachlor, and cyanzinc were each significant predictors of community IUGR rates in southern Iowa after controlling for several potentially confounding factors including maternal smoking and socioeconomic variables. The association with IUGR was strongest for atrazine, but all three herbicides were intercorrelated and the independent contributions of each to IUGR risk could not be determined. We conclude that communities in southern Iowa with drinking water supplies contaminated with herbicides have elevated rates of IUGR compared to neighboring communities with different water supplies. Because of the limitations of the ecologic design of this study, including aggregate rather than individual measures of exposure and limited ability to control for confounding factors related to source of drinking water and risk of IUGR, a strong causal relationship between any specific water contaminant and risk of IUGR cannot yet be inferred. The association between the water supplied to the Rathbun communities and the increased risk of IUGR should be considered a preliminary finding that needs to be verified by more detailed epidemiologic studies. PMID:9171992

  7. Intrauterine growth retardation in Iowa communities with herbicide-contaminated drinking water supplies

    USGS Publications Warehouse

    Munger, R.; Isacson, P.; Hu, S.; Burns, T.; Hanson, J.; Lynch, C.F.; Cherryholmes, K.; Van Dorpe, P.; Hausler, W.J., Jr.

    1997-01-01

    In a statewide survey of 856 Iowa municipal drinking water supplies in 1986-1987 the Rathbun rural water system was found to contain elevated levels of triazine herbicides. Rates of low birth weight, prematurity, and intrauterine growth retardation (IUGR) in live singleton births during the period 1984-1990 by women living in 13 communities served by the Rathbun water system were compared to other communities of similar size in the same Iowa counties. The Rathbun communities had a greater risk of IUGR than southern Iowa communities with other surface sources of drinking water (relative risk = 1.8; 95% CI = 1.3, 2.7). Multiple linear regression analyses revealed that levels of the herbicides atrazine, metolachlor, and cyanazine were each significant predictors of community IUGR rates in southern Iowa after controlling for several potentially confounding factors including maternal smoking and socioeconomic variables. The association with IUGR was strongest for atrazine, but all three herbicides were intercorrelated and the independent contributions of each to IUGR risk could not be determined. We conclude that communities in southern Iowa with drinking water supplies contaminated with herbicides have elevated rates of IUGR compared to neighboring communities with different water supplies. Because of the limitations of the ecologic design of this study, including aggregate rather than individual measures of exposure and limited ability to control for confounding factors related to source of drinking water and risk of IUGR, a strong causal relationship between any specific water contaminant and risk of IUGR cannot yet be inferred. The association between the water supplied to the Rathbun communities and the increased risk of IUGR should be considered a preliminary finding that needs to be verified by more detailed epidemiologic studies.

  8. Genital flora in pregnancy and its association with intrauterine growth retardation.

    PubMed Central

    Germain, M; Krohn, M A; Hillier, S L; Eschenbach, D A

    1994-01-01

    A study of risk factors for intrauterine growth retardation (IUGR) was conducted among a cohort of 13,914 pregnant women enrolled in the multicenter Vaginal Infections and Prematurity Study. From 23 through 26 weeks of gestational age, cultures of specimens from the vagina and cervix were done for group B streptococci, Neisseria gonorrhoeae, Chlamydia trachomatis, Trichomonas vaginalis, Candida albicans, Gardnerella vaginalis, Mycoplasma hominis, Ureaplasma urealyticum, and anaerobic gram-negative rods belonging to the genera Bacteroides, Porphyromonas, and Prevotella. Newborns who were small for their gestational age were delivered by 1,251 women, and infants of the appropriate weight for their gestational age were delivered by 10,332 women. When controlling for ethnicity and smoking and excluding women treated with antibiotics, the Mantel-Haenszel adjusted relative risk of IUGR was 1.16 for Bacteroides, Prevotella, and Porphyromonas spp. (95% confidence interval [95% CI], 1.01 to 1.33), 1.16 for M. hominis (95% CI, 1.04 to 1.29), 1.20 for U. urealyticum (95% CI, 1.05 to 1.38), and 1.22 for T. vaginalis (95% CI, 1.05 to 1.42). There was also a strong and significant trend for an increasing risk of IUGR with the number of these four microbes recovered. Among women colonized with all four isolates, the adjusted odds ratio of IUGR was 1.79 (95% CI, 1.27 to 2.52) in comparison with women not colonized with any of these microorganisms. Group B streptococci, N. gonorrhoeae, C. trachomatis, and C. albicans were not significantly associated with IUGR. These results suggest that infection is associated with some cases of IUGR and that specific microorganisms, alone or in combination, are involved. Since genital isolates are highly correlated with each other, the relative contribution of each microbe is difficult to determine. PMID:7814541

  9. Changes in amniotic fluid and umbilical cord serum proteomic profiles of foetuses with intrauterine growth retardation.

    PubMed

    Cecconi, Daniela; Lonardoni, Francesco; Favretto, Donata; Cosmi, Erich; Tucci, Marianna; Visentin, Silvia; Cecchetto, Giovanni; Fais, Paolo; Viel, Guido; Ferrara, Santo Davide

    2011-12-01

    Foetal growth is a result of a complex net of processes, requiring coordination within the maternal, placental, and foetal compartments, the imbalance or lack of which may lead to intrauterine growth restriction (IUGR). IUGR is the major cause of perinatal morbidity and mortality, and is also related to enhanced morbidity and metabolic abnormalities later in life. In the present study, the protein profiles of umbilical cord serum (UCS) and amniotic fluid (AF) of ten IUGR and ten appropriate for gestational age newborns have been analysed by 2-DE, and nanoHPLC-Chip/MS technology. A total of 18 and 13 spots were found to be differentially expressed (p<0.01) in UCS and AF respectively. The unique differentially expressed proteins identified by MS/MS analysis were 14 in UCS, and 11 in AF samples. Protein gene ontology classification indicate that 21% of proteins are involved in inflammatory response, 20% in immune response, while a smaller proportion are related to transport, blood pressure, and coagulation. These results support the conclusion that the IUGR condition alters the expression of proteins involved in the coagulation process, immune mechanisms, blood pressure and iron and copper homeostasis control, offering a new insight into IUGR pathogenesis. PMID:22180211

  10. Abnormal mandibular growth after craniovertebral surgery in Morquio syndrome type A.

    PubMed

    Defraia, Efisio; Marinelli, Andrea; Antonini, Antonino; Giuntini, Veronica

    2005-05-01

    Morquio syndrome or MPS4A is an autosomal recessive inherited metabolic disease, due to a deficiency of N-acetil-galactosamine-6-sulfatase (OMIM 253000). Hypoplastic odontoid processes causing atlantoaxial subluxation and cervical myelopathy are usual clinical findings. Surgical intervention of craniocervical fusion is often performed to prevent this complication. Clinical and cephalometric findings in a patient affected by Morquio syndrome after craniovertebral surgery are described. Facial growth pattern in the lateral plane changed dramatically. The mandibular gonial angle (ArGoMe), the body of the mandible (GoGn), and the total length of the mandible (CoGn) increased abnormally, whereas the mandibular ramus (CoGo) exhibited normal growth. Knowledge of the possibility of abnormal mandibular growth may contribute in long-term orthodontic management of such subjects. PMID:15898389

  11. Effects of Choline on Meat Quality and Intramuscular Fat in Intrauterine Growth Retardation Pigs.

    PubMed

    Li, Bo; Li, Wei; Ahmad, Hussain; Zhang, Lili; Wang, Chao; Wang, Tian

    2015-01-01

    The aim of this study was to investigate the effects of choline supplementation on intramuscular fat (IMF) and lipid oxidation in IUGR pigs. Twelve normal body weight (NBW) and twelve intrauterine growth retardation (IUGR) newborn piglets were collected and distributed into 4 treatments (Normal: N, Normal+Choline: N+C, IUGR: I, and IUGR+Choline: I+C) with 6 piglets in each treatment. At 23 d of age, NBW and IUGR pigs were fed basal or choline supplemented diets. The results showed that the IUGR pigs had significantly lower (P<0.05) BW as compared with the NBW pigs at 23 d, 73 d, and 120 d of age, however, there was a slight decreased (P>0.05) in BW of IUGR pigs than the NBW pigs at 200 d. Compared with the NBW pigs, pH of meat longissimus dorsi muscle was significantly lower (P<0.05), and the meat color was improved in IUGR pigs. The malondialdehyde (MDA) levels were significantly decreased (P<0.05), while triglyceride (TG) and IMF contents were significantly higher (P<0.05) in the IUGR pigs than the NBW pigs. IUGR up-regulated the mRNA gene expression of fatty acid synthetase (FAS) and acetyl-CoA carboxylase (ACC). Dietary choline significantly increased (P<0.05) the BW at 120d of age, however, significantly decreased (P<0.05) the TG and IMF contents in both IUGR and NBW pigs. FAS and sterol regulatory element-binding proteins 1 (SREBP1) mRNA gene expressions were increased (P<0.05) while the muscle-carnitine palmityl transferase (M-CPT) and peroxisome proliferators-activated receptorγ (PPARγ) mRNA (P<0.05) gene expressions were decreased in the muscles of the IUGR pigs by choline supplementation. Furthermore, choline supplementation significantly increased (P<0.05) the MDA content as well as the O2•¯ scavenging activity in meat of IUGR pigs. The results suggested that IUGR pigs showed a permanent stunting effect on the growth performance, increased fat deposition and oxidative stress in muscles. However, dietary supplementation of choline improved the fat

  12. Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.

    PubMed

    Bicakci, Zafer

    2015-03-01

    Vitamin B12 (cobalamin, Cbl) deficiency can cause metabolic, hematological, and neurological abnormalities. Adequate levels of succinyl-coenzyme A (CoA) cannot be synthesized from methylmalonyl-CoA because of the decreased activity of the methylmalonyl-CoA mutase enzyme that uses Cbl as the cofactor. Succinyl-CoA synthesis deficiency leads to decreased heme synthesis and gluconeogenesis. The reason of growth retardation can be gluconeogenesis deficiency together with heme synthesis deficiency whereas the reason of the neurological abnormalities can be glycine increase in the tissue due to decreased heme synthesis. We present 7 infants diagnosed with severe nutritional Cbl deficiency and discuss the role of succinyl-CoA and glycine in the possible pathogenesis in this article. Patients brought to our clinic with a complaint of growth retardation and diagnosed with nutritional Cbl deficiency were included in the study. There were 5 females and 2 males. The mean age was 11 ± 2.30 (range 6-13) months. All patients had general muscular hypotonia and 4 had growth retardation. Neuromotor growth retardation was found in 4 of the children who had previously shown normal neuromotor development for age. The mean Cbl level was 83.8 ± 27.6 (45.6-114) pg/mL. The mean Cbl level of the mothers was 155 ± 56.6 (88-258) pg/mL. Six of the patients had anemia and 1 had thrombocytopenia. Mean corpuscular volume value was 91.5 ± 12.2 fL. Following treatment, the muscle tonus of the patients improved, the anemia and growth retardation decreased, and the lost neuromotor abilities were recovered. Severe nutritional Cbl deficiency is an important nutritional disease where complications can be prevented with early treatment. When evaluating the pathogenesis, it should be noted that nutritional Cbl deficiency is a succinyl-CoA synthesis deficiency. PMID:25738478

  13. Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis

    PubMed Central

    Bicakci, Zafer

    2015-01-01

    Abstract Vitamin B12 (cobalamin, Cbl) deficiency can cause metabolic, hematological, and neurological abnormalities. Adequate levels of succinyl-coenzyme A (CoA) cannot be synthesized from methylmalonyl-CoA because of the decreased activity of the methylmalonyl-CoA mutase enzyme that uses Cbl as the cofactor. Succinyl-CoA synthesis deficiency leads to decreased heme synthesis and gluconeogenesis. The reason of growth retardation can be gluconeogenesis deficiency together with heme synthesis deficiency whereas the reason of the neurological abnormalities can be glycine increase in the tissue due to decreased heme synthesis. We present 7 infants diagnosed with severe nutritional Cbl deficiency and discuss the role of succinyl-CoA and glycine in the possible pathogenesis in this article. Patients brought to our clinic with a complaint of growth retardation and diagnosed with nutritional Cbl deficiency were included in the study. There were 5 females and 2 males. The mean age was 11 ± 2.30 (range 6–13) months. All patients had general muscular hypotonia and 4 had growth retardation. Neuromotor growth retardation was found in 4 of the children who had previously shown normal neuromotor development for age. The mean Cbl level was 83.8 ± 27.6 (45.6–114) pg/mL. The mean Cbl level of the mothers was 155 ± 56.6 (88–258) pg/mL. Six of the patients had anemia and 1 had thrombocytopenia. Mean corpuscular volume value was 91.5 ± 12.2 fL. Following treatment, the muscle tonus of the patients improved, the anemia and growth retardation decreased, and the lost neuromotor abilities were recovered. Severe nutritional Cbl deficiency is an important nutritional disease where complications can be prevented with early treatment. When evaluating the pathogenesis, it should be noted that nutritional Cbl deficiency is a succinyl-CoA synthesis deficiency. PMID:25738478

  14. Hypomorphic mutation in mouse Nppc gene causes retarded bone growth due to impaired endochondral ossification

    SciTech Connect

    Tsuji, Takehito Kondo, Eri; Yasoda, Akihiro; Inamoto, Masataka; Kiyosu, Chiyo; Nakao, Kazuwa; Kunieda, Tetsuo

    2008-11-07

    Long bone abnormality (lbab/lbab) is a spontaneous mutant mouse characterized by dwarfism with shorter long bones. A missense mutation was reported in the Nppc gene, which encodes C-type natriuretic peptide (CNP), but it has not been confirmed whether this mutation is responsible for the dwarf phenotype. To verify that the mutation causes the dwarfism of lbab/lbab mice, we first investigated the effect of CNP in lbab/lbab mice. By transgenic rescue with chondrocyte-specific expression of CNP, the dwarf phenotype in lbab/lbab mice was completely compensated. Next, we revealed that CNP derived from the lbab allele retained only slight activity to induce cGMP production through its receptor. Histological analysis showed that both proliferative and hypertrophic zones of chondrocytes in the growth plate of lbab/lbab mice were markedly reduced. Our results demonstrate that lbab/lbab mice have a hypomorphic mutation in the Nppc gene that is responsible for dwarfism caused by impaired endochondral ossification.

  15. Neonatal and fetal exposure to trans-fatty acid retards early growth and adiposity while adversely affecting glucose in mice

    PubMed Central

    Kavanagh, Kylie; Sajadian, Soraya; Jenkins, Kurt A.; Wilson, Martha D.; Carr, J. Jeffery; Wagner, Janice D.; Rudel, Lawrence L.

    2010-01-01

    Industrially produced trans fatty acids (TFAs) consumed in western diets are incorporated into maternal and fetal tissues, and are passed linearly to offspring via breast milk. We hypothesized that TFA exposure in utero and during lactation in infants would promote obesity and poor glycemic control as compared to unmodified fatty acids. We further hypothesized that in utero exposure alone may program for these outcomes in adulthood. To test this hypothesis we fed female C57/BL6 mice identical western diets that differed only in cis- or trans-isomers of C18:1 and then aimed to determine whether maternal transfer of TFAs through pregnancy and lactation alters growth, body composition and glucose metabolism. Mice were unexposed, exposed during pregnancy, during lactation, or throughout pregnancy and lactation to TFA. Body weight and composition (by computed tomography), and glucose metabolism we assessed at weaning and adulthood. TFA exposure through breast milk caused significant early growth retardation (p<0.001) and higher fasting glucose (p=0.01) but insulin sensitivity was not different. Elevated plasma insulin-like growth factor-1 in mice consuming TFA-enriched milk (p=0.02) may contribute to later catch-up growth, leanness and preserved peripheral insulin sensitivity observed in these mice. Mice exposed to TFA in utero underwent rapid early neonatal growth with TFA-free breast milk and had significantly impaired insulin sensitivity (p<0.05) and greater abdominal fat (p=0.01). We conclude that very early catch-up growth resulted in impaired peripheral insulin sensitivity in this model of diet-related fetal and neonatal programming. TFA surprisingly retarded growth and adiposity while still adversely affecting glucose metabolism. PMID:20650350

  16. Treadmill exercise-dependent tumor growth retardation in T-cell lymphoma-bearing host displays gender dimorphism.

    PubMed

    Verma, Vinod Kumar; Singh, Vivek; Singh, Mahendra Pal; Singh, Sukh Mahendra

    2010-01-01

    A number of previous investigations have reported that physical exercise renders immunopotentiating and antitumor therapeutic benefits to the tumor-bearing host. As these effects of physical exercise are mainly mediated through the modulation of hormonal and cytokine repertoire, it remains unclear if male and female tumor-bearing hosts show a gender-dependent differential response to the therapeutic action of physical exercise in tumor growth retardation. In the present investigation tumor growth retardation, following physical exercise was investigated in a gender-specific manner in a murine tumor model of a T-cell lymphoma designated as Dalton's lymphoma (DL). The results of the present investigation show that physical exercise of a tumor-bearing host on a treadmill results in a better retardation of tumor progression along with prolongation of survival time in male compared to female tumor-bearing host. Such gender dimorphism of the therapeutic benefits of physical exercise in tumor-bearing host was found to be associated with a gender-dependent variation in cell survival and induction of apoptosis in tumor cells. Moreover, expression of cell growth regulatory proteins-selectin, Hsp70, p53, CAD, SOCS, and IL-2 receptor-was found to vary in a gender-specific manner following physical exercise. The investigation also indicates the role of cytokines and macrophages in manifestation of gender dimorphism in the response of tumor-bearing mice to physical exercise. Thus, the observations of the present investigation suggest for the first time that the beneficial effects of physical exercise in a tumor-bearing host may be variable depending on the gender of the host. PMID:20377130

  17. Predicting the Probability of Abnormal Stimulated Growth Hormone Response in Children After Radiotherapy for Brain Tumors

    SciTech Connect

    Hua Chiaho; Wu Shengjie; Chemaitilly, Wassim; Lukose, Renin C.; Merchant, Thomas E.

    2012-11-15

    Purpose: To develop a mathematical model utilizing more readily available measures than stimulation tests that identifies brain tumor survivors with high likelihood of abnormal growth hormone secretion after radiotherapy (RT), to avoid late recognition and a consequent delay in growth hormone replacement therapy. Methods and Materials: We analyzed 191 prospectively collected post-RT evaluations of peak growth hormone level (arginine tolerance/levodopa stimulation test), serum insulin-like growth factor 1 (IGF-1), IGF-binding protein 3, height, weight, growth velocity, and body mass index in 106 children and adolescents treated for ependymoma (n = 72), low-grade glioma (n = 28) or craniopharyngioma (n = 6), who had normal growth hormone levels before RT. Normal level in this study was defined as the peak growth hormone response to the stimulation test {>=}7 ng/mL. Results: Independent predictor variables identified by multivariate logistic regression with high statistical significance (p < 0.0001) included IGF-1 z score, weight z score, and hypothalamic dose. The developed predictive model demonstrated a strong discriminatory power with an area under the receiver operating characteristic curve of 0.883. At a potential cutoff point of probability of 0.3 the sensitivity was 80% and specificity 78%. Conclusions: Without unpleasant and expensive frequent stimulation tests, our model provides a quantitative approach to closely follow the growth hormone secretory capacity of brain tumor survivors. It allows identification of high-risk children for subsequent confirmatory tests and in-depth workup for diagnosis of growth hormone deficiency.

  18. A nerve growth factor peptide retards seizure development and inhibits neuronal sprouting in a rat model of epilepsy.

    PubMed Central

    Rashid, K; Van der Zee, C E; Ross, G M; Chapman, C A; Stanisz, J; Riopelle, R J; Racine, R J; Fahnestock, M

    1995-01-01

    Kindling, an animal model of epilepsy wherein seizures are induced by subcortical electrical stimulation, results in the upregulation of neurotrophin mRNA and protein in the adult rat forebrain and causes mossy fiber sprouting in the hippocampus. Intraventricular infusion of a synthetic peptide mimic of a nerve growth factor domain that interferes with the binding of neurotrophins to their receptors resulted in significant retardation of kindling and inhibition of mossy fiber sprouting. These findings suggest a critical role for neurotrophins in both kindling and kindling-induced synaptic reorganization. Images Fig. 2 PMID:7568161

  19. Gamma radiation induces growth retardation, impaired egg production, and oxidative stress in the marine copepod Paracyclopina nana.

    PubMed

    Won, Eun-Ji; Lee, Jae-Seong

    2014-05-01

    Accidental nuclear radioisotope release into the ocean from nuclear power plants is of concern due to ecological and health risks. In this study, we used the marine copepod Paracyclopina nana to examine the effects of radioisotopes on marine organisms upon gamma radiation, and to measure the effects on growth and fecundity, which affect population and community structure. Upon gamma radiation, mortality (LD50 - 96 h=172 Gy) in P. nana was significantly increased in a dose-dependent manner in ovigerous P. nana females. For developmental impairment of gamma-irradiated nauplii, we observed growth retardation; in over 30 Gy-irradiated groups, offspring did not grow to adults. Particularly, over 50 Gy-irradiated ovigerous P. nana females did not have normal bilateral egg sacs, and their offspring did not develop normally to adulthood. Additionally, at over 30 Gy, we found dose-dependent increases in oxidative levels with elevated antioxidant enzyme activities and DNA repair activities. These findings indicate that gamma radiation can induce oxidative stress and DNA damage with growth retardation and impaired reproduction. PMID:24632311

  20. Data Mining of Determinants of Intrauterine Growth Retardation Revisited Using Novel Algorithms Generating Semantic Maps and Prototypical Discriminating Variable Profiles

    PubMed Central

    Buscema, Massimo; Grossi, Enzo; Montanini, Luisa; Street, Maria E.

    2015-01-01

    Objectives Intra-uterine growth retardation is often of unknown origin, and is of great interest as a “Fetal Origin of Adult Disease” has been now well recognized. We built a benchmark based upon a previously analysed data set related to Intrauterine Growth Retardation with 46 subjects described by 14 variables, related with the insulin-like growth factor system and pro-inflammatory cytokines, namely interleukin -6 and tumor necrosis factor -α. Design and Methods We used new algorithms for optimal information sorting based on the combination of two neural network algorithms: Auto-contractive Map and Activation and Competition System. Auto-Contractive Map spatializes the relationships among variables or records by constructing a suitable embedding space where ‘closeness’ among variables or records reflects accurately their associations. The Activation and Competition System algorithm instead works as a dynamic non linear associative memory on the weight matrices of other algorithms, and is able to produce a prototypical variable profile of a given target. Results Classical statistical analysis, proved to be unable to distinguish intrauterine growth retardation from appropriate-for-gestational age (AGA) subjects due to the high non-linearity of underlying functions. Auto-contractive map succeeded in clustering and differentiating completely the conditions under study, while Activation and Competition System allowed to develop the profile of variables which discriminated the two conditions under study better than any other previous form of attempt. In particular, Activation and Competition System showed that ppropriateness for gestational age was explained by IGF-2 relative gene expression, and by IGFBP-2 and TNF-α placental contents. IUGR instead was explained by IGF-I, IGFBP-1, IGFBP-2 and IL-6 gene expression in placenta. Conclusion This further analysis provided further insight into the placental key-players of fetal growth within the insulin-like growth

  1. Effects of GHRP-2 and Cysteamine Administration on Growth Performance, Somatotropic Axis Hormone and Muscle Protein Deposition in Yaks (Bos grunniens) with Growth Retardation

    PubMed Central

    Hu, Rui; Wang, Zhisheng; Peng, Quanhui; Zou, Huawei; Wang, Hongze; Yu, Xiaoqiang; Jing, Xiaoping; Wang, Yixin; Cao, Binghai; Bao, Shanke; Zhang, Wenhua; Zhao, Suonan; Ji, Hanzhong; Kong, Xiangying; Niu, Quanxi

    2016-01-01

    The objective of this study was to investigate the effects of growth hormone-releasing peptide-2 (GHRP-2) and cysteamine (CS) administration on growth performance in yaks with growth retardation and try to elucidate its regulatory mechanisms. Trial 1, thirty-six 1-year-old Qinghai high plateau yaks (body weight 38–83.2 kg) were randomly chosen for body weight and jugular blood samples collection. The relationship between body weight and serum GHRH (P < 0.05, R = 0.45), GH (P < 0.05, R = 0.47), IGF-1 (P < 0.05, R = 0.62) was significantly correlated in yaks colonies with lighter body weights. Trial 2, fifteen 1-year-old Qinghai high plateau yaks with growth retardation (average body weight 54.8 ± 8.24 kg) were randomly selected and assigned to negative control group (NG), GHRP-2 injection group (GG) and cysteamine feeding group (CG), with 5 yaks per group. Another five 1-year-old Qinghai high plateau yaks with normal growth performance (average body weight 75.3 ± 2.43 kg) were selected as positive control group (PG). The average daily gain (ADG) of the GG and CG were significantly higher than those in the PG and NG (P < 0.05). Both GHRP-2 and CS administration significantly enhanced the myofiber diameter and area of skeletal muscle (P<0.05). GHRP-2 significantly enhanced the serum GH and IGF-1 levels (P < 0.05), and up-regulated GHR, IGF-1 and IGF-1R mRNA expression in the liver and skeletal muscle (P < 0.05), enhanced the mRNA expression of PI3K, AKt and mTOR in the skeletal muscle (P<0.05). CS significantly reduced the serum SS levels and the hypothalamus SS mRNA expression (P < 0.05), and enhanced GHR and IGF-1 mRNA expression in the liver (P < 0.05), decreased the mRNA expression of muscle atrophy F-box (Atrogin-1) and muscle ring finger 1 (MuRF1) mRNA (P < 0.05). Conclusions: Growth retardation in yaks was primarily due to somatotropic axis hormones secretion deficiency. Both GHRP-2 and CS administration can accelerate growth performance and GH, IGF-1

  2. The Initiation and Propagation of Dynamic Abnormal Grain Growth in Molybdenum

    NASA Astrophysics Data System (ADS)

    Noell, Philip J.; Worthington, Daniel L.; Taleff, Eric M.

    2015-12-01

    Plastic straining can initiate and propagate abnormal grains at temperatures significantly lower than is possible by static annealing. This phenomenon is termed dynamic abnormal grain growth (DAGG). Experiments that produce DAGG in commercial-purity molybdenum sheet materials are used to study the initiation and propagation of abnormal grains by plastic straining at temperatures from 1673 K to 2073 K (1400° C to 1800° C). The minimum strain necessary to initiate DAGG, termed the critical strain, decreases approximately linearly with increasing temperature. The variation in critical strain values observed at a single temperature and strain rate is well described by a normal distribution. An increased fraction of grains aligned with the < 110rangle along the tensile axis, a preferred orientation for DAGG grains, appears to decrease the critical strain for DAGG initiation. DAGG grains preferentially grow into the finest-grained polycrystalline regions, which suggests that the driving force for DAGG propagation is primarily from grain-boundary curvature. No effects of local crystallographic texture variation on growth are evident in microstructures containing DAGG grains. Together, these observations support the hypothesis that plastic straining during DAGG acts primarily to increase boundary mobility, rather than to increase the driving force for boundary migration.

  3. Delayed myelination in an intrauterine growth retardation model is mediated by oxidative stress upregulating bone morphogenetic protein 4.

    PubMed

    Reid, Mary V; Murray, Kaitlin A; Marsh, Eric D; Golden, Jeffrey A; Simmons, Rebecca A; Grinspan, Judith B

    2012-07-01

    Intrauterine growth retardation (IUGR) is associated with neurological deficits including cerebral palsy and cognitive and behavioral disabilities. The pathogenesis involves oxidative stress that leads to periventricular white matter injury with a paucity of mature oligodendrocytes and hypomyelination. The molecular mechanisms underlying this damage remain poorly understood. We used a rat model of IUGR created by bilateral ligation of the uterine artery at embryonic Day 19 that results in fetal growth retardation and oxidative stress in the developing brain. The IUGR rat pups showed significant delays in oligodendrocyte differentiation and myelination that resolved by 8 weeks. Bone morphogenetic protein 4 (BMP4), which inhibits oligodendrocyte maturation, was elevated in IUGR brains at postnatal time points and returned to near normal by adulthood. Despite the apparent recovery, behavioral deficiencies were found in 8-week-old female animals, suggesting that the early transient myelination defects have permanent effects. In support of these in vivo data, oligodendrocyte precursor cells cultured from postnatal IUGR rats retained increased BMP4 expression and impaired differentiation that was reversed with the BMP inhibitor noggin. Oxidants in oligodendrocyte cultures increased BMP expression, which decreased differentiation; however, abrogating BMP signaling with noggin in vitro and in BMP-deficient mice prevented these effects. Together, these findings suggest that IUGR results in delayed myelination through the generation of oxidative stress that leads to BMP4 upregulation. PMID:22710965

  4. Intrauterine Growth Restriction Associated with Hematologic Abnormalities: Probable Manifestations of Placental Mesenchymal Dysplasia.

    PubMed

    Martinez-Payo, Cristina; Bernabeu, Rocio Alvarez; Villar, Isabel Salas; Goy, Enrique Iglesias

    2015-10-01

    Introduction Placental mesenchymal dysplasia is a rare vascular disease associated with intrauterine growth restriction, fetal demise as well as Beckwith-Wiedemann syndrome. Some neonates present hematologic abnormalities possibly related to consumptive coagulopathy and hemolytic anemia in the placental circulation. Case report We present a case of placental mesenchymal dysplasia in a fetus with intrauterine growth restriction and cerebellar hemorrhagic injury diagnosed in the 20th week of pregnancy. During 26th week, our patient had an intrauterine fetal demise in the context of gestational hypertension. We have detailed the ultrasound findings that made us suspect the presence of hematologic disorders during 20th week. Discussion We believe that the cerebellar hematoma could be the consequence of thrombocytopenia accompanied by anemia. If hemorrhagic damage during fetal life is found, above all associates with an anomalous placental appearance and with intrauterine growth restriction, PMD should be suspected along other etiologies. PMID:26495159

  5. Small Size at Birth or Abnormal Intrauterine Growth Trajectory: Which Matters More for Child Growth?

    PubMed

    Hutcheon, Jennifer A; Jacobsen, Geir W; Kramer, Michael S; Martinussen, Marit; Platt, Robert W

    2016-06-15

    Small size at birth is linked with lifelong adverse health implications. However, small size is only a proxy for the pathological process of interest, intrauterine growth restriction. We examined the extent to which information on intrauterine growth patterns improved prediction of childhood anthropometry, above and beyond birth weight alone. We obtained fetal weights estimated via serial ultrasound for 478 children in the Scandinavian Successive Small-for-Gestational-Age Births Study (1986-1988). Size at birth was classified using birth weight-for-gestational-age z scores and conditional fetal growth z scores (reflecting growth between 25 weeks' gestation and birth) using internal references. Conditional z scores were also expressed as residuals of birth weight z scores. Growth measures were linked with age-5-years anthropometric characteristics using linear regression. In univariable analyses, conditional fetal growth z scores were positively associated with z scores for child height, body mass index, total skinfold thickness, and head circumference (β = 0.24 (95% confidence interval (CI): 0.18, 0.31), β = 0.16 (95% CI: 0.09, 0.23), β = 0.08 (95% CI: 0.01, 0.16), and β = 0.37 (95% CI: 0.22, 0.52), respectively). However, conditional z scores were highly correlated with birth weight z scores (r = 0.9), and residuals explained minimal additional variation in anthropometric factors (null coefficients; adjusted R(2) increases < 0.01). Information on the intrauterine trajectory through which birth weight was attained provided little additional insight into child growth beyond that obtained from absolute size at birth. PMID:27257112

  6. New understanding of the role of coincidence site lattice boundaries in abnormal grain growth of aluminium alloy

    NASA Astrophysics Data System (ADS)

    Park, Chang-Soo; Park, Hyung-Ki; Shim, Hyung-Seok; Na, Tae-Wook; Han, Chan-Hee; Hwang, Nong-Moon

    2015-04-01

    The sequential microstructure evolution of abnormal grain growth (AGG) in the aluminium alloy (AA5052) was investigated to analyse the migration behaviour of coincidence site lattice (CSL) boundaries, which are known to play an important role in inducing AGG. The sequential evolution showed that CSL boundaries tend to disappear more slowly than general boundaries at the growth front of abnormally growing grains. Especially, the migration rate of Σ9 boundaries was noticeably low, which is contrary to the previous suggestions.

  7. Role of the fetoplacental endothelium in fetal growth restriction with abnormal umbilical artery Doppler velocimetry.

    PubMed

    Su, Emily J

    2015-10-01

    Growth-restricted fetuses with absent or reversed end-diastolic velocities in the umbilical artery are at substantially increased risk for adverse perinatal and long-term outcome, even in comparison to growth-restricted fetuses with preserved end-diastolic velocities. Translational studies show that this Doppler velocimetry correlates with fetoplacental blood flow, with absent or reversed end-diastolic velocities signifying abnormally elevated resistance within the placental vasculature. The fetoplacental vasculature is unique in that it is not subject to autonomic regulation, unlike other vascular beds. Instead, humoral mediators, many of which are synthesized by local endothelial cells, regulate placental vascular resistance. Existing data demonstrate that in growth-restricted pregnancies complicated by absent or reversed umbilical artery end-diastolic velocities, an imbalance in production of these vasoactive substances occurs, favoring vasoconstriction. Morphologically, placentas from these pregnancies also demonstrate impaired angiogenesis, whereby vessels within the terminal villi are sparsely branched, abnormally thin, and elongated. This structural deviation from normal placental angiogenesis restricts blood flow and further contributes to elevated fetoplacental vascular resistance. Although considerable work has been done in the field of fetoplacental vascular development and function, much remains unknown about the mechanisms underlying impaired development and function of the human fetoplacental vasculature, especially in the context of severe fetal growth restriction with absent or reversed umbilical artery end-diastolic velocities. Fetoplacental endothelial cells are key regulators of angiogenesis and vasomotor tone. A thorough understanding of their role in placental vascular biology carries the significant potential of discovering clinically relevant and innovative approaches to prevention and treatment of fetal growth restriction with compromised

  8. Mechanism of abnormally slow crystal growth of CuZr alloy

    SciTech Connect

    Yan, X. Q.; Lü, Y. J.

    2015-10-28

    Crystal growth of the glass-forming CuZr alloy is shown to be abnormally slow, which suggests a new method to identify the good glass-forming alloys. The crystal growth of elemental Cu, Pd and binary NiAl, CuZr alloys is systematically studied with the aid of molecular dynamics simulations. The temperature dependence of the growth velocity indicates the different growth mechanisms between the elemental and the alloy systems. The high-speed growth featuring the elemental metals is dominated by the non-activated collision between liquid-like atoms and interface, and the low-speed growth for NiAl and CuZr is determined by the diffusion across the interface. We find that, in contrast to Cu, Pd, and NiAl, a strong stress layering arisen from the density and the local order layering forms in front of the liquid-crystal interface of CuZr alloy, which causes a slow diffusion zone. The formation of the slow diffusion zone suppresses the interface moving, resulting in much small growth velocity of CuZr alloy. We provide a direct evidence of this explanation by applying the compressive stress normal to the interface. The compression is shown to boost the stress layering in CuZr significantly, correspondingly enhancing the slow diffusion zone, and eventually slowing down the crystal growth of CuZr alloy immediately. In contrast, the growth of Cu, Pd, and NiAl is increased by the compression because the low diffusion zones in them are never well developed.

  9. Growth of plasmodium falciparum in human erythrocytes containing abnormal membrane proteins

    SciTech Connect

    Schulman, S. City Univ. of New York, NY ); Roth, E.F. Jr.; Cheng, B.; Rybicki, A.C.; Sussman, I.I.; Wong, M.; Nagel, R.L.; Schwartz, R.S. ); Wang, W. ); Ranney, H.M. )

    1990-09-01

    To evaluate the role of erythrocyte (RBC) membrane proteins in the invasion and maturation of Plasmodium falciparum, the authors have studied, in culture, abnormal RBCs containing quantitative or qualitative membrane protein defects. These defects included hereditary spherocytosis (HS) due to decreases in the content of spectrin (HS(Sp{sup +})), hereditary elliptocytosis (HE) due to protein 4.1 deficiency (HE(4.1{sup 0})), HE due to a spectrin {alpha}I domain structural variant that results in increased content of spectrin dimers (HE(Sp{alpha}{sup I/65})), and band 3 structural variants. Parasite invasion, measured by the initial uptake of ({sup 3}H)hypoxanthine 18 hr after inoculation with merozoites, was normal in all of the pathologic RBCs. In contrast, RBCs from six HS(Sp{sup +}) subjects showed marked growth inhibition that became apparent after the first or second growth cycle. The extent of decreased parasite growth in HS(Sp{sup +}) RBCs closely correlated with the extent of RBC spectrin deficiency. Homogeneous subpopulations of dense HS RBCs exhibited decreased parasite growth to the same extent as did HS whole blood. RBCs from four HE subjects showed marked parasite growth and development.

  10. Body weight distribution and organ size in newborn swine (sus scrofa domestica) -- a study describing an animal model for asymmetrical intrauterine growth retardation.

    PubMed

    Bauer, R; Walter, B; Hoppe, A; Gaser, E; Lampe, V; Kauf, E; Zwiener, U

    1998-03-01

    Normal growth is the expression of the genetic potential to growth which is neither abnormally constrained nor promoted by internal or external factors. Restricted fetal growth is common in human pregnancy and is associated with increased perinatal morbidity and mortality. Because of ethical restrictions, pathogenetical studies are necessarily dependent on appropriate animal models. In the studies presented, evidence will be provided that the naturally occurring distribution of body weight in newborn piglets, obtained from n = 512 newborn piglets (about 12 hours old) in 50 consecutive deliveries in the breed cohort of the mixed German domestic breed - "Deutsches Land-/Edelschwein" gives an appropriate sampling for providing a statistically reliable basis with which to determine different degrees of fetal growth for further pathophysiological studies intended. A strong inverse correlation (r = -0.66, p < 0.05) was found between the mean weight of the litter and the number of piglets per litter, and an inverse correlation (r = -0.64, p < 0.05) was found between the lowest weight of the littermate and the number of piglets per litter. Moreover, gravimetric investigations were made into an additional 53 one-day-old newborn piglets reflecting the naturally occurring birth weight distribution determined. A marked linear correlation between body weights and various organ weights was found (values of the correlation coefficient amounted to between 0.45 and 0.98; p < 0.05). The lowest variation of organ weights was found in the CNS structures (0.68-1.33). Skeleton and heart exhibited similar ranges of weight variation (0.35-1.81 and 0.38-2.00 of the means) to body weight (0.38-1.77 of the means). This was also expressed in the regression analysis, because the slope values were 0.99 and 0.97 respectively. The hormonal glands investigated, the kidneys, and the abdominal parenchymal organs exhibited the largest ranges of weight variation. Moreover, regression analysis gives

  11. The Bisecting GlcNAc on N-Glycans Inhibits Growth Factor Signaling and Retards Mammary Tumor Progression

    PubMed Central

    Song, Yinghui; Aglipay, Jason A.; Bernstein, Joshua D.; Goswami, Sumanta; Stanley, Pamela

    2010-01-01

    The branching of complex N-glycans attached to growth factor receptors promotes tumor progression by prolonging growth factor signaling. The addition of the bisecting GlcNAc to complex N-glycans by Mgat3 has varying effects on cell adhesion, cell migration and hepatoma formation. Here we show that Chinese hamster ovary (CHO) cells expressing Mgat3 and the Polyoma Middle T (PyMT) antigen have reduced cell proliferation and growth factor signaling dependent on a galectin lattice. The Mgat3 gene is not expressed in virgin mammary gland but is upregulated during lactation and is expressed in MMTV/PyMT tumors. Mice lacking Mgat3 that cannot transfer the bisecting GlcNAc to N-glycans acquire PyMT-induced mammary tumors more rapidly, have an increased tumor burden, increased migration of tumor cells, and increased early metastasis to lung. Tumors and tumor-derived cells lacking Mgat3 exhibit enhanced signaling through the Ras pathway, and reduced amounts of functionally-glycosylated α-dystroglycan. Constitutive overexpression of an MMTV/Mgat3 transgene inhibits early mammary tumor development and tumor cell migration. Thus the addition of the bisecting GlcNAc to complex N-glycans of mammary tumor cell glycoprotein receptors is a cell-autonomous mechanism serving to retard tumor progression by reducing growth factor signaling. PMID:20395209

  12. Exposure to electromagnetic fields during pregnancy and associated risks for intrauterine growth retardation and spontaneous abortion. Final report

    SciTech Connect

    Bracken, M.B.

    1995-12-01

    This joint EPRI/National Institutes of Health study is the largest epidemiological study ever undertaken to examine the relationship between exposure to electric and magnetic fields (EMF) during pregnancy and reproductive outcomes. Overall, the study concludes that EMF exposure during pregnancy is unrelated to pregnancy outcome. In specific, the study reveals no association between electromagnetic field exposure from electrically heated beds and intrauterine growth retardation or spontaneous abortion. Among the many strengths of this study are clearly specified hypotheses; prospective design; randomized assignment to exposure monitoring; very large sample size; detailed assessment of potential confounding by known risk factors for adverse pregnancy outcomes; and comprehensive statistical analyses. The study also featured extensive exposure assessment, including measurements of EMF from a variety of sources, personal monitoring, and wire coding information.

  13. aP2-Cre-mediated inactivation of acetyl-CoA carboxylase 1 causes growth retardation and reduced lipid accumulation in adipose tissues

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Adipose tissue is one of the major sites for fatty acid synthesis and lipid storage. We generated adipose (fat)-specific ACC1 knockout (FACC1KO) mice using the aP2-Cre/loxP system. FACC1KO mice showed prenatal growth retardation; after weaning, however, their weight gain was comparable to that of wi...

  14. An examination of abnormal grain growth in low strain nickel-200

    DOE PAGESBeta

    Underwood, O.; Madison, J.; Martens, R. M.; Thompson, G. B.; Welsh, S.; Evans, J.

    2016-06-21

    Here, this study offers experimental observation of the effect of low strain conditions (ε < 10%) on abnormal grain growth (AGG) in Nickel-200. At such conditions, stored mechanical energy is low within the microstructure enabling one to observe the impact of increasing mechanical deformation on the early onset of AGG compared to a control, or nondeformed, equivalent sample. The onset of AGG was observed to occur at specific pairings of compressive strain and annealing temperature and an empirical relation describing the influence of thermal exposure and strain content was developed. The evolution of low-Σ coincident site lattice (CSL) boundaries andmore » overall grain size distributions are quantified using electron backscatter diffraction preceding, at onset and during ensuing AGG, whereby possible mechanisms for AGG in the low strain regime are offered and discussed.« less

  15. Enhanced and Retarded SiO2 Growth on Thermally Oxidized Fe-Contaminated n-Type Si(001) Surfaces

    NASA Astrophysics Data System (ADS)

    Shimizu, Hirofumi; Hagiwara, Hiroyuki

    2013-04-01

    At the beginning of the oxidation of Fe-contaminated n-type Si(001) surfaces, Fe reacted with oxygen (O2) on the silicon (Si) substrate to form Fe2O3 and oxygen-induced point defects (emitted Si + vacancies). SiO2 growth was mainly enhanced by catalytic action of Fe. At 650 °C, SiO2 growth of the contaminated samples was faster than in reference samples rinsed in RCA solution during the first 60 min. However, it substantially slowed and became less than that of the reference samples. As the oxidation advanced, approximately half of the contaminated Fe atoms became concentrated close to the surface area of the SiO2 film layer. This Fe2O3-rich SiO2 layer acted as a diffusion barrier against oxygen species. The diffusion of oxygen atoms toward the SiO2/Si interface may have been reduced, and in turn, the emission of Si self-interstitials owing to oxidation-induced strain may have been decreased at the SiO2/Si interface, resulting in the retarded oxide growth. These results are evidence that emitted Si self-interstitials are oxidized not in the Fe2O3-rich SiO2 layer, but at the SiO2/Si interface in accordance with a previously proposed model. A possible mechanism based on the interfacial Si emission model is discussed. The activation energies for the oxide growth are found to be in accord with the enhanced and reduced growths of the Fe-contaminated samples.

  16. Retarding the growth of the Rosensweig instability unveils a new scaling regime

    NASA Astrophysics Data System (ADS)

    Lange, Adrian; Gollwitzer, Christian; Maretzki, Robin; Rehberg, Ingo; Richter, Reinhard

    2016-04-01

    Using a highly viscous magnetic fluid, the dynamics in the aftermath of the Rosensweig instability can be slowed down by more than 2000 times. In this way we expand the regime where the growth rate is predicted to scale linearly with the bifurcation parameter by six orders of magnitude, while this regime is tiny for standard ferrofluids and cannot be resolved experimentally there. We measure the growth of the pattern by means of a two-dimensional imaging technique, and find that the slopes of the growth and decay rates are not the same—a qualitative discrepancy with respect to the theoretical predictions. We solve this discrepancy by taking into account a viscosity which is assumed to be different for the growth and decay. This may be a consequence of the measured shear thinning of the ferrofluid.

  17. Retarding the growth of the Rosensweig instability unveils a new scaling regime.

    PubMed

    Lange, Adrian; Gollwitzer, Christian; Maretzki, Robin; Rehberg, Ingo; Richter, Reinhard

    2016-04-01

    Using a highly viscous magnetic fluid, the dynamics in the aftermath of the Rosensweig instability can be slowed down by more than 2000 times. In this way we expand the regime where the growth rate is predicted to scale linearly with the bifurcation parameter by six orders of magnitude, while this regime is tiny for standard ferrofluids and cannot be resolved experimentally there. We measure the growth of the pattern by means of a two-dimensional imaging technique, and find that the slopes of the growth and decay rates are not the same-a qualitative discrepancy with respect to the theoretical predictions. We solve this discrepancy by taking into account a viscosity which is assumed to be different for the growth and decay. This may be a consequence of the measured shear thinning of the ferrofluid. PMID:27176389

  18. [Abnormality in bone metabolism after burn].

    PubMed

    Gong, X; Xie, W G

    2016-08-20

    Burn causes bone metabolic abnormality in most cases, including the changes in osteoblasts and osteoclasts, bone mass loss, and bone absorption, which results in decreased bone mineral density. These changes are sustainable for many years after burn and even cause growth retardation in burned children. The mechanisms of bone metabolic abnormality after burn include the increasing glucocorticoids due to stress response, a variety of cytokines and inflammatory medium due to inflammatory response, vitamin D deficiency, hypoparathyroidism, and bone loss due to long-term lying in bed. This article reviews the pathogenesis and regularity of bone metabolic abnormality after burn, the relationship between bone metabolic abnormality and burn area/depth, and the treatment of bone metabolic abnormality, etc. and discusses the research directions in the future. PMID:27562160

  19. A Monte Carlo Potts Investigation of Microstructural Evolution: Particle Assisted Abnormal Grain Growth

    NASA Astrophysics Data System (ADS)

    Guebels, Corentin Alain Pierre Nicolas

    The microstructural changes that occur in metals and alloys due to deformation and heat treatment are often characterized according to the macroscale deformation process (i.e. cold or hot working). The general problem of this type of characterization is that it only distinguishes the general microstructural trends. For many decades, these microstructural phenomena have been described empirically or with limited experimental verification. This shortcoming is apparent for recrystallization and abnormal grain growth processes. Understanding and characterizing the thermal and mechanical processes that compete to control grain boundary kinetics and the subsequent microstructural evolution is critical. These include but are not limited to: the input and recovery of deformation energy, the influence of deformation energy on grain boundary migration, the mechanisms controlling the nucleation of new grains, and the effect of second-phase particles. The present work introduces a new temporal scaling method and investigates the conditions in which some grain boundaries may become unpinned in an otherwise stable, pinned microstructure and extends work done by E. Holm. The temporal scaling method contributes to resolving some of the limitations of Monte Carlo Potts (MCP) simulations in the investigation of the conditions and mechanisms that distinguish recrystallization from dynamic abnormal grain growth (DAGG). Grain boundary unpinning is then investigated for the case of an idealized spherical grain and for a polycrystalline microstructure. The mechanisms of grain boundary pinning and grain growth inhibition by second-phase particles are well known. The influence of simulation temperature on grain boundary unpinning is investigated numerically using a 3D Monte Carlo Potts approach. MCP based models are commonly implemented to simulate microstructural evolution. However, the numerical implementations of recrystallization and other deformation-induced phenomena often elude

  20. Mitigating Abnormal Grain Growth for Friction Stir Welded Al-Li 2195 Spun Formed Domes

    NASA Technical Reports Server (NTRS)

    Chen, Po-Shou; Russell, Carolyn

    2012-01-01

    Formability and abnormal grain growth (AGG) are the two major issues that have been encountered for Al alloy spun formed dome development using friction stir welded blanks. Material properties that have significant influence on the formability include forming range and strain hardening exponent. In this study, tensile tests were performed for two 2195 friction stir weld parameter sets at 400 F to study the effects of post weld anneal on the forming range and strain hardening exponent. It was found that the formability can be enhanced by applying a newly developed post weld anneal to heat treat the friction stir welded panels. This new post weld anneal leads to a higher forming range and much improved strain hardening exponent. AGG in the weld nugget is known to cause a significant reduction of ductility and fracture toughness. This study also investigated how AGG may be influenced by the heating rate to the solution heat treatment temperature. After post-weld annealing, friction stir welds were strained to 15% and 39% by compression at 400 F before they were subjected to SHT at 950 F for 1 hour. Salt bath SHT is very effective in reducing the grain size as it helps arrest the onset of AGG and promote normal recrystallization and grain growth. However, heat treating a 18 ft dome using a salt bath is not practical. Efforts are continuing at Marshall Space Flight Center to identify the welding parameters and heat treating parameters that can help mitigate the AGG in the friction stir welds.

  1. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

    PubMed

    Brockschmidt, Antje; Todt, Unda; Ryu, Soojin; Hoischen, Alexander; Landwehr, Christina; Birnbaum, Stefanie; Frenck, Wilhelm; Radlwimmer, Bernhard; Lichter, Peter; Engels, Hartmut; Driever, Wolfgang; Kubisch, Christian; Weber, Ruthild G

    2007-06-15

    Pitt-Hopkins syndrome (PHS) is a rare syndromic mental disorder, which is mainly characterized by severe motor and mental retardation including absent language development, a characteristic facial gestalt and episodes of hyperventilation. We report on a female patient with PHS showing severe mental retardation with absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features, such as a coarse face, a broad nasal bridge and a wide mouth, and hyperventilation attacks. In this patient, genomic profiling by array-based comparative genomic hybridization and fluorescence in situ hybridization studies detected and confirmed a de novo 0.5 Mb deletion in 18q21.2 containing a single gene, the basic helix-loop-helix transcription factor TCF4. cDNA and genomic analyses in the patient and her parents demonstrated TCF4 haploinsufficiency as the underlying cause of the disease. Analysis of the embryonal expression pattern of the Danio rerio ortholog, tcf4, by whole-mount in situ hybridization showed a highly specific expression domain in the pallium of the telencephalon during late somitogenesis, when the patterning of the zebrafish brain is advanced and neural differentiation commences. Later expression domains were restricted to several regions in the central nervous system, including continued expression in the pallium of the telencephalon, and starting expression in the diencephalon (thalamus, ventral thalamus and posterior tuberculum), the midbrain tegmentum, the hindbrain and the branchial arches. This expression pattern correlates with the clinical phenotype. Our results show that haploinsufficiency of TCF4 causes PHS and suggest that D. rerio is a valuable model to study the molecular pathogenesis of PHS and the role of TCF4 in brain development. PMID:17478476

  2. Congenital Abnormalities

    MedlinePlus

    ... serious health problems (e.g. Down syndrome ). Single-Gene Abnormalities Sometimes the chromosomes are normal in number, ... blood flow to the fetus impair fetal growth. Alcohol consumption and certain drugs during pregnancy significantly increase ...

  3. Cytosolic ppGpp accumulation induces retarded plant growth and development.

    PubMed

    Ihara, Yuta; Masuda, Shinji

    2016-02-01

    In bacteria a second messenger, guanosine 5'-diphosphate 3'-diphosphate (ppGpp), synthesized upon nutrient starvation, controls many gene expressions and enzyme activities, which is necessary for growth under changeable environments. Recent studies have shown that ppGpp synthase and hydrolase are also conserved in eukaryotes, although their functions are not well understood. We recently showed that ppGpp-overaccumulation in Arabidopsis chloroplasts results in robust growth under nutrient-limited conditions, demonstrating that the bacterial-like stringent response at least functions in plastids. To test if ppGpp also functions in the cytosol, we constructed the transgenic Arabidopsis expressing Bacillus subtilis ppGpp synthase gene yjbM. Upon induction of the gene, the mutant synthesizes ∼10-20-fold higher levels of ppGpp, and its fresh weight was reduced to ˜80% that of the wild type. These results indicate that cytosolic ppGpp negatively regulates plant growth and development. PMID:26825398

  4. Growth Retardation and Altered Isotope Composition As Delayed Effects of PCB Exposure in Daphnia magna.

    PubMed

    Ek, Caroline; Gerdes, Zandra; Garbaras, Andrius; Adolfsson-Erici, Margaretha; Gorokhova, Elena

    2016-08-01

    Trophic magnification factor (TMF) analysis employs stable isotope signatures to derive biomagnification potential for environmental contaminants. This approach relies on species δ(15)N values aligning with their trophic position (TP). This, however, may not always be true, because toxic exposure can alter growth and isotope allocation patterns. Here, effects of PCB exposure (mixture of PCB18, PCB40, PCB128, and PCB209) on δ(15)N and δ(13)C as well as processes driving these effects were explored using the cladoceran Daphnia magna. A two-part experiment assessed effects of toxic exposure during and after exposure; juvenile daphnids were exposed during 3 days (accumulation phase) and then allowed to depurate for 4 days (depuration phase). No effects on survival, growth, carbon and nitrogen content, and stable isotope composition were observed after the accumulation phase, whereas significant changes were detected in adults after the depuration phase. In particular, a significantly lower nitrogen content and a growth inhibition were observed, with a concomitant increase in δ(15)N (+0.1 ‰) and decrease in δ(13)C (-0.1 ‰). Although of low magnitude, these changes followed the predicted direction indicating that sublethal effects of contaminant exposure can lead to overestimation of TP and hence underestimated TMF. PMID:27367056

  5. Depletion of Ascorbic Acid Restricts Angiogenesis and Retards Tumor Growth in a Mouse Model

    PubMed Central

    Telang, Sucheta; Clem, Amy L; Eaton, John W; Chesney, Jason

    2007-01-01

    Abstract Angiogenesis requires the deposition of type IV collagen by endothelial cells into the basement membrane of new blood vessels. Stabilization of type IV collagen triple helix depends on the hydroxylation of proline, which is catalyzed by the iron-containing enzyme prolyl hydroxylase. This enzyme, in turn, requires ascorbic acid to maintain the enzyme-bound iron in its reduced state. We hypothesized that dietary ascorbic acid might be required for tumor angiogenesis and, therefore, tumor growth. Here, we show that, not surprisingly, ascorbic acid is necessary for the synthesis of collagen type IV by human endothelial cells and for their effective migration and tube formation on a basement membrane matrix. Furthermore, ascorbic acid depletion in mice incapable of synthesizing ascorbic acid (Gulo-/-) dramatically restricts the in vivo growth of implanted Lewis lung carcinoma tumors. Histopathological analyses of these tumors reveal poorly formed blood vessels, extensive hemorrhagic foci, and decreased collagen and von Willebrand factor expression. Our data indicate that ascorbic acid plays an essential role in tumor angiogenesis and growth, and that restriction of ascorbic acid or pharmacological inhibition of prolyl hydroxylase may prove to be novel therapeutic approaches to the treatment of cancer. PMID:17325743

  6. Cytosolic ppGpp accumulation induces retarded plant growth and development

    PubMed Central

    Ihara, Yuta; Masuda, Shinji

    2016-01-01

    ABSTRACT In bacteria a second messenger, guanosine 5′-diphosphate 3′-diphosphate (ppGpp), synthesized upon nutrient starvation, controls many gene expressions and enzyme activities, which is necessary for growth under changeable environments. Recent studies have shown that ppGpp synthase and hydrolase are also conserved in eukaryotes, although their functions are not well understood. We recently showed that ppGpp-overaccumulation in Arabidopsis chloroplasts results in robust growth under nutrient-limited conditions, demonstrating that the bacterial-like stringent response at least functions in plastids. To test if ppGpp also functions in the cytosol, we constructed the transgenic Arabidopsis expressing Bacillus subtilis ppGpp synthase gene yjbM. Upon induction of the gene, the mutant synthesizes ∼10–20-fold higher levels of ppGpp, and its fresh weight was reduced to ˜80% that of the wild type. These results indicate that cytosolic ppGpp negatively regulates plant growth and development. PMID:26825398

  7. Prenatal Exposure to Polybrominated Flame Retardants and Fetal Growth in the INMA Cohort (Spain)

    PubMed Central

    2015-01-01

    Our aim was to investigate the relation between PBDEs and fetal growth or newborn anthropometry in a Spanish cohort (2003–2008). PBDE congeners (BDE-47, -99, -153, -154, and -209) were determined in serum of 670 mothers at gestational week 12 and in 534 umbilical cord samples. Abdominal circumference (AC), estimated fetal weight (EFW), femur length (FL), and biparietal diameter (BPD) during gestation were measured by ultrasounds. At birth, weight (BW), head circumference (HC), and length (BL) were also measured. We assessed growth in the intervals between 12–20 and 20–34 weeks of gestation and size at birth by standard deviation (SD)-scores adjusted for constitutional characteristics. We conducted multivariate linear regression analyses between PBDE congeners and their sum (ΣPBDEs) and outcomes. We found statistically significant inverse associations between ΣPBDEs and AC, EFW, and BPD at weeks 20–34 and HC at birth. Regarding congeners, the association was clearer with BDE-99, with inverse associations being found with AC, EFW, and BPD at weeks 20–34, and with BW and HC at delivery. These outcomes decreased between 1.3% and 3.5% for each 2-fold PBDE increase. Concerning matrices, we found statistically significant inverse associations with BPD, HC, and BW when using maternal serum, and for AC and EFW with cord serum. In conclusion, PBDEs may impair fetal growth in late pregnancy and reduce birth size. PMID:26181825

  8. Nicotine-induced retardation of chondrogenesis through down-regulation of IGF-1 signaling pathway to inhibit matrix synthesis of growth plate chondrocytes in fetal rats

    SciTech Connect

    Deng, Yu; Cao, Hong; Cu, Fenglong; Xu, Dan; Lei, Youying; Tan, Yang; Magdalou, Jacques; Wang, Hui; Chen, Liaobin

    2013-05-15

    Previous studies have confirmed that maternal tobacco smoking causes intrauterine growth retardation (IUGR) and skeletal growth retardation. Among a multitude of chemicals associated with cigarette smoking, nicotine is one of the leading candidates for causing low birth weights. However, the possible mechanism of delayed chondrogenesis by prenatal nicotine exposure remains unclear. We investigated the effects of nicotine on fetal growth plate chondrocytes in vivo and in vitro. Rats were given 2.0 mg/kg·d of nicotine subcutaneously from gestational days 11 to 20. Prenatal nicotine exposure increased the levels of fetal blood corticosterone and resulted in fetal skeletal growth retardation. Moreover, nicotine exposure induced the inhibition of matrix synthesis and down-regulation of insulin-like growth factor 1 (IGF-1) signaling in fetal growth plates. The effects of nicotine on growth plates were studied in vitro by exposing fetal growth plate chondrocytes to 0, 1, 10, or 100 μM of nicotine for 10 days. Nicotine inhibited matrix synthesis and down-regulated IGF-1 signaling in chondrocytes in a concentration-dependent manner. These results suggest that prenatal nicotine exposure induces delayed chondrogenesis and that the mechanism may involve the down-regulation of IGF-1 signaling and the inhibition of matrix synthesis by growth plate chondrocytes. The present study aids in the characterization of delayed chondrogenesis caused by prenatal nicotine exposure, which might suggest a candidate mechanism for intrauterine origins of osteoporosis and osteoarthritis. - Highlights: ► Prenatal nicotine-exposure could induce delayed chondrogenesis in fetal rats. ► Nicotine inhibits matrix synthesis of fetal growth plate chondrocytes. ► Nicotine inhibits IGF-1 signaling pathway in fetal growth plate chondrocytes.

  9. The Arabidopsis transcriptional regulator DPB3-1 enhances heat stress tolerance without growth retardation in rice.

    PubMed

    Sato, Hikaru; Todaka, Daisuke; Kudo, Madoka; Mizoi, Junya; Kidokoro, Satoshi; Zhao, Yu; Shinozaki, Kazuo; Yamaguchi-Shinozaki, Kazuko

    2016-08-01

    The enhancement of heat stress tolerance in crops is an important challenge for food security to facilitate adaptation to global warming. In Arabidopsis thaliana, the transcriptional regulator DNA polymerase II subunit B3-1 (DPB3-1)/nuclear factor Y subunit C10 (NF-YC10) has been reported as a positive regulator of Dehydration-responsive element binding protein 2A (DREB2A), and the overexpression of DPB3-1 enhances heat stress tolerance without growth retardation. Here, we show that DPB3-1 interacts with DREB2A homologues in rice and soya bean. Transactivation analyses with Arabidopsis and rice mesophyll protoplasts indicate that DPB3-1 and its rice homologue OsDPB3-2 function as positive regulators of DREB2A homologues. Overexpression of DPB3-1 did not affect plant growth or yield in rice under nonstress conditions. Moreover, DPB3-1-overexpressing rice showed enhanced heat stress tolerance. Microarray analysis revealed that many heat stress-inducible genes were up-regulated in DPB3-1-overexpressing rice under heat stress conditions. However, the overexpression of DPB3-1 using a constitutive promoter had almost no effect on the expression of these genes under nonstress conditions. This may be because DPB3-1 is a coactivator and thus lacks inherent transcriptional activity. We conclude that DPB3-1, a coactivator that functions specifically under abiotic stress conditions, could be utilized to increase heat stress tolerance in crops without negative effects on vegetative and reproductive growth. PMID:26841113

  10. Facilitative Effects of Forgetting from Short-Term Memory on Growth of Long-Term Memory in Retardates

    ERIC Educational Resources Information Center

    Sperber, Richard D.

    1976-01-01

    Competing explanations of the beneficial effect of spacing in retardate discrimination learning were tested. Results are inconsistent with consolidation and rehearsal theories but support the prediction of the Geber, Greenfield, and House spacing model that forgetting from short-term memory facilities retardate learning. (Author/SB)

  11. PARASITIC INFECTIONS: IS MALE AND FEMALE DIFFERENCE FOR ANEMIA AND GROWTH RETARDATION EVIDENT?

    PubMed

    Safar, Hebatalla H; Eldash, Hanaa H

    2015-12-01

    Parasitoses are the commonest health problem among school age clildren, which impair children's growth and development and causing anemia. To detect the role of parasitic infections and both anemia and growth affection, on one hand, and if so the common complications among males and females on the other hand, a cross sectional descriptive study was carried out among the outpatient attended the Pediatrics Clinic, Al-Fayoum University's Hospitals. A total of 314 children aged from 1 to 13 years were subjected to clinical examination as well as stool analysis and CBC examination. The detected parasites were Entameba histolytica, Giardia lamblia (Protozoa) and Enterobius vermicularis, Hymenolepis nana, Ascaris lambricoides and Ancylostoma duodenale (Helminthes). There was significance difference (P<0.05) between males and females regarding E. histolytica in females (60%) as to G. lamblia and H. nana in males (16.1%, & 11.5% respecttively). Also, there was significance difference (P<0.05) between males and females regarding to hemoglobin level, and weight percentiles with anemia (92%) and underweight& borderline weight (34.5%) in males. The overall anemia was 89.8%. However, there was no significance difference (P<0.05) regarding to height percentiles. PMID:26939224

  12. Dehydrins from wheat x Thinopyrum ponticum amphiploid increase salinity and drought tolerance under their own inducible promoters without growth retardation.

    PubMed

    Qin, Yu-Xiang; Qin, Fangyuan

    2016-02-01

    Dehydrins confer abiotic stress tolerance in seedlings, but few dehydrins have been studied by transgenic analysis under their own promoters in relation to abiotic stress tolerance. Also the inducible promoters for transgenic engineering are limited. In this study, we isolated from wheat three salt-induced YSK2 dehydrin genes and their promoters. The cDNA sequences were 711, 785, and 932 bp in length, encoding proteins containing 133, 166 and 231 amino acids, respectively, and were named TaDHN1, TaDHN2, and TaDHN3. TaDHN2 doesn't contain introns, while the other two genes each contain one. Semi-quantitative reverse transcription PCR analysis revealed all three dehydrin genes are substantially induced by ABA and NaCl, but only TaDHN2 is induced in seedlings by PEG and by cold (4 °C). Regulatory sequences upstream of the first translation codon (775, 1615 and 889 bp) of the three dehydrin genes were also cloned. Cis-element prediction indicated the presence of ABRE and other abiotic-stress-related elements. Histochemical analysis using GUS expression demonstrated that all three promoters were induced by ABA, cold or NaCl. Ectopic over-expression of TaDHN1 or TaDHN3 in Arabidopsis under their own inducible promoters enhanced NaCl- and drought-stress tolerance without growth retardation. PMID:26756791

  13. Growth retardation, dysmorphic facies and minor malformations following massive exposure to phenobarbitone in utero.

    PubMed

    Seip, M

    1976-09-01

    A syndrome of facial dysmorphism, pre- and postnatal growth deficiency, developmental delay and minor malformations is described in two siblings. The facial anomalies consist of short nose with low nasal bridge, hypertelorism, epicanthic folds, ptosis of eyelid (patient 2), lowset ears, wide mouth with protruding lips and relative prognathism. Patient 2 in addition had a cleft soft palate and a hypoplastic phalanx of his fifth fingers. Both siblings were exposed to extraordinary high levels of phenobarbitone (5.0-8.6 mg/100 ml) in utero. The same clinical picture has been reported by others following use of phenytoin in pregnancy, and the term "fetal hydantoin syndrome" has been proposed. Since the syndrome seems to occur both following exposure to phenytoin and to phenobarbital this term should probably be avoided. This interesting coincidence indicates that the drugs may have a similar mechanism of action on the development of the fetus. PMID:822687

  14. Mental Retardation.

    ERIC Educational Resources Information Center

    Baumeister, Alfred A., Ed.

    Thirteen papers by different authors consider the application of research findings and theoretical formulations to the practical appraisal and treatment of mental retardation. All suggest methods for shaping appropriate and adaptive behaviors in retarded individuals. The papers include "Definition, Diagnosis, and Classification" by D.W. Brison,…

  15. Mental Retardation.

    ERIC Educational Resources Information Center

    Purpura, Dominick P.; And Others

    Evidence today indicates that the causes of mental retardation are biological, psychological, and social in origin and that a combination of these causes frequently occur in a single individual. Mental retardation is identified clinically by the presence of several signs that include, but are not limited to, a significant impairment of…

  16. Effects of intrauterine growth retardation and postnatal high-fat diet on hepatic inflammatory response in pigs.

    PubMed

    Liu, Jingbo; He, Jian; Yang, Yuekui; Yu, Jie; Mao, Xiangbing; Yu, Bing; Chen, Daiwen

    2014-01-01

    The objective of this study was to investigate the glucose and insulin response of pigs with intrauterine growth retardation (IUGR) to a high-fat (HF) feeding regimen and to observe the underlying toll-like receptor-4 (TLR4) signalling pathway. Weaned piglets with IUGR or normal birthweight (NBW) (n = 20 each) received during the whole fattening period control diets (0% lard) or HF diets (HF, 10% lard). At about 110 kg body weight, pigs were euthanised to collect hepatic samples. Compared with NBW pigs, IUGR pigs had lower daily gain and feed intake. Growth rate of pigs was increased by HF feeding. Pigs fed HF diets had lower peak concentrations of glucose and insulin, which decreased more slowly than in pigs that received the control diets. The mRNA expression abundances of peroxisome proliferator-activated receptor coactivator-1α (PGC-1α), TLR4, myeloid differentiation factor 88 (MyD88), tumour necrosis factor-α (TNF-α), interleukin 6 (IL-6) and IL-1 receptor antagonist (IL-1Rn) were significantly affected by HF feeding, and IL-6 and IL-1Rn mRNA expressions were up-regulated in IUGR pigs compared with NBW pigs. Western blot analysis indicated that HF feeding elevated the protein expressions of TLR4 signalling pathway, as TLR4, MyD88, IκB kinase β and nuclear factor-κB, and insulin signalling-related proteins, as phosphorylated insulin receptor substrate-1 and phosphorylated protein kinase B. In summary, hepatic TLR4 signalling pathway and inflammatory response induced by HF feeding played an important role in the aggravated development of insulin resistance in pigs. PMID:24646150

  17. ADAM12-deficient zebrafish exhibit retardation in body growth at the juvenile stage without developmental defects.

    PubMed

    Tokumasu, Yudai; Iida, Atsuo; Wang, Zi; Ansai, Satoshi; Kinoshita, Masato; Sehara-Fujisawa, Atsuko

    2016-05-01

    ADAM (a disintegrin and metalloprotease) constitutes a family of multi-domain proteins that are involved in development, homeostasis, and disease. ADAM12 plays important roles in myogenesis and adipogenesis in mice; however, the precise physiological mechanisms are not known, and the function of this gene in other vertebrates has not been examined. In this study, we used a simple model vertebrate, the zebrafish, to investigate the functions of ADAM12 during development. Zebrafish adam12 is conserved with those of mammals in the synteny and the amino-acid sequence. We examined adam12 expression in zebrafish embryos by whole mount in situ hybridization and the promoter activity of the adam12 upstream sequence. We found that adam12 is strongly expressed in the cardiovascular system, erythroid progenitors, brain, and jaw cartilage during zebrafish development, and adam12-knockout zebrafish exhibited reduced body size in the juvenile stage without apparent morphological defects. Taken together, these results suggest that adam12 plays a significant role in the regulation of body growth during juvenile stage in zebrafish, although the precise molecular mechanisms await further study. PMID:27185351

  18. High sodium intake increases blood pressure and alters renal function in intrauterine growth-retarded rats.

    PubMed

    Sanders, Marijke W; Fazzi, Gregorio E; Janssen, Ger M J; Blanco, Carlos E; De Mey, Jo G R

    2005-07-01

    A suboptimal fetal environment increases the risk to develop cardiovascular disease in the adult. We reported previously that intrauterine stress in response to reduced uteroplacental blood flow in the pregnant rat limits fetal growth and compromises renal development, leading to an altered renal function in the adult offspring. Here we tested the hypothesis that high dietary sodium intake in rats with impaired renal development attributable to intrauterine stress, results in increased blood pressure, altered renal function, and organ damage. In rats, intrauterine stress was induced by bilateral ligation of the uterine arteries at day 17 of pregnancy. At the age of 12 weeks, the offspring was given high-sodium drinking water (2% sodium chloride). At the age of 16 weeks, rats were instrumented for monitoring of blood pressure and renal function. After intrauterine stress, litter size and birth weight were reduced, whereas hematocrit at birth was increased. Renal blood flow, glomerular filtration rate, and the glomerular filtration fraction were increased significantly after intrauterine stress. High sodium intake did not change renal function and blood pressure in control animals. However, during high sodium intake in intrauterine stress offspring, renal blood flow, glomerular filtration rate, and the filtration fraction were decreased, and blood pressure was increased. In addition, these animals developed severe albuminuria, an important sign of renal dysfunction. Thus, a suboptimal fetal microenvironment, which impairs renal development, results in sodium-dependent hypertension and albuminuria. PMID:15956110

  19. Improvement in Growth After 1 Year of Growth Hormone Therapy in Well-Nourished Infants with Growth Retardation Secondary to Chronic Renal Failure: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial

    PubMed Central

    Moreno, M. Llanos; Neto, Arlete; Ariceta, Gema; Vara, Julia; Alonso, Angel; Bueno, Alberto; Afonso, Alberto Caldas; Correia, António Jorge; Muley, Rafael; Barrios, Vicente; Gómez, Carlos; Argente, Jesús

    2010-01-01

    Background and objectives: Our aim was to evaluate the growth-promoting effect of growth hormone (GH) treatment in infants with chronic renal failure (CRF) and persistent growth retardation despite adequate nutritional and metabolic management. Design, setting, participants, & measurements: The study design included randomized, parallel groups in an open, multicenter trial comparing GH (0.33 mg/kg per wk) with nontreatment with GH during 12 months. Sixteen infants who had growth retardation, were aged 12 ± 3 months, had CRF (GFR ≤60 ml/min per 1.73 m2), and had adequate nutritional intake and good metabolic control were recruited from eight pediatric nephrology departments from Spain and Portugal. Main outcome measures were body length, body weight, bone age, biochemical and hormonal analyses, renal function, bone mass, and adverse effects. Results: Length gain in infants who were treated with GH was statistically greater (P < 0.05) than that of nontreated children (14.5 versus 9.5 cm/yr; SD score 1.43 versus −0.11). The GH-induced stimulation of growth was associated with no undesirable effects on bone maturation, renal failure progression, or metabolic control. In addition, GH treatment improved forearm bone mass and increased serum concentrations of total and free IGF-I and IGF-binding protein 3 (IGFBP-3), whereas IGF-II, IGFBP-1, IGFBP-2, GH-binding protein, ghrelin, and leptin were not modified. Conclusions: Infants with CRF and growth retardation despite good metabolic and nutritional control benefit from GH treatment without adverse effects during 12 months of therapy. PMID:20522533

  20. Distal renal tubular acidosis, hypokalemic paralysis, nephrocalcinosis, primary hypothyroidism, growth retardation, osteomalacia and osteoporosis leading to pathological fracture: a case report.

    PubMed

    Basak, Ramen C; Sharkawi, Khairy Mostafa; Rahman, Mohammad Mizanur; Swar, Mayada Mohammad

    2011-07-01

    Renal tubular acidosis (RTA) is a constellation of syndromes arising from different derangements of tubular acid transport. Recent advances in the biology of urinary acidification have allowed us to discern various molecular mechanisms responsible for these syndromes. RTA often presents as renal stone disease with nephrocalcinosis, ricket/osteomalacia and growth retardation in children with ultimate short stature in adulthood. The case reported here has features of distal renal tubular acidosis (dRTA), hypokalemic paralysis, primary hypothyroidism, growth retardation, osteomalacia and osteopenia leading to stress fracture. All these features presenting in a single case (as in our case) is a rare occurrence, so far other cases of distal renal tubular acidosis (dRTA) have been reported. PMID:22043434

  1. Expression of the CTCFL Gene during Mouse Embryogenesis Causes Growth Retardation, Postnatal Lethality, and Dysregulation of the Transforming Growth Factor β Pathway

    PubMed Central

    Sati, Leyla; Zeiss, Caroline; Yekkala, Krishna; Demir, Ramazan

    2015-01-01

    CTCFL, a paralog of CTCF, also known as BORIS (brother of regulator of imprinted sites), is a testis-expressed gene whose function is largely unknown. Its product is a cancer testis antigen (CTA), and it is often expressed in tumor cells and also seen in two benign human vascular malformations, juvenile angiofibromas and infantile hemangiomas. To understand the function of Ctcfl, we created tetracycline-inducible Ctcfl transgenic mice. We show that Ctcfl expression during embryogenesis results in growth retardation, eye malformations, multiorgan pathologies, vascular defects, and neonatal death. This phenotype resembles prior mouse models that perturb the transforming growth factor β (TGFB) pathway. Embryonic stem (ES) cells with the Ctcfl transgene reproduce the phenotype in ES cell-tetraploid chimeras. Transcriptome sequencing of the Ctcfl ES cells revealed 14 genes deregulated by Ctcfl expression. Bioinformatic analysis revealed the TGFB pathway as most affected by embryonic Ctcfl expression. Understanding the consequence of Ctcfl expression in nontesticular cells and elucidating downstream targets of Ctcfl could explain the role of its product as a CTA and its involvement in two, if not more, human vascular malformations. PMID:26169830

  2. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

    PubMed

    Grønskov, Karen; Poole, Rebecca L; Hahnemann, Johanne M D; Thomson, Jennifer; Tümer, Zeynep; Brøndum-Nielsen, Karen; Murphy, Rinki; Ravn, Kirstine; Melchior, Linea; Dedic, Alma; Dolmer, Birgitte; Temple, I Karen; Boonen, Susanne E; Mackay, Deborah J G

    2011-05-01

    Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregulation of IGF2 and bi-allelic expression of H19. H19 and IGF2 are reciprocally imprinted genes on chromosome 11p15. The expression is regulated by the imprinted methylation of the ICR, which modulates the transcription of H19 and IGF2 facilitated by enhancers downstream of H19. A promoter element of IGF2, IGF2P0, is differentially methylated equivalently to the H19-ICR, though in a small number of SRS cases this association is disrupted--that is, hypomethylation affects either H19-ICR or IGF2P0. Three pedigrees associated with hypomethylation of IGF2P0 in the probands are presented here, two with paternally derived deletions, and one with a balanced translocation of inferred paternal origin. They all have a breakpoint within the H19/IGF2 enhancer region. One proband has severe growth retardation, the others have SRS. This is the first report of paternally derived structural chromosomal mutations in 11p15 causing SRS. These cases define a novel aetiology of the growth retardation in SRS, namely, dissociation of IGF2 from its enhancers. PMID:21278389

  3. ER stress-induced protein, VIGG, disturbs plant cation homeostasis, which is correlated with growth retardation and robustness to ER stress

    SciTech Connect

    Katoh, Hironori; Fujita, Keiko; Takuhara, Yuki; Ogawa, Atsushi; Suzuki, Shunji

    2011-02-18

    Highlights: {yields} VIGG is an ER stress-induced protein in plant. {yields} We examine the characteristics of VIGG-overexpressing Arabidopsis plants. {yields} VIGG-overexpressing plants reveal growth retardation and robustness to ER stress. {yields} VIGG disturbs cation homeostasis in plant. -- Abstract: VIGG is a putative endoplasmic reticulum (ER) resident protein induced by virus infection and ER stress, and is correlated with fruit quality in grapevine. The present study was undertaken to determine the biological function of VIGG in grapevine. Experiments using fluorescent protein-VIGG fusion protein demonstrated that VIGG is localized in ER and the ER targeting sequence is in the N-terminus. The overexpression of VIGG in Arabidopsis plant led to growth retardation. The rosette leaves of VIGG-overexpressing plants were smaller than those of the control plants and rolled at 42 days after seeding. VIGG-overexpressing plants revealed robustness to ER stress as well as the low expression of ER stress marker proteins, such as the luminal binding proteins. These characteristics of VIGG-overexpressing plants were supported by a microarray experiment that demonstrated the disruption of genes related to ER stress response and flowering, as well as cation mobility, in the plants. Finally, cation homeostasis in the plants was disturbed by the overexpression of VIGG. Taken together, these results suggest that VIGG may disturb cation homeostasis in plant, which is correlated with the robustness to ER stress and growth retardation.

  4. The impact of plasma folate levels of mothers and newborns on intrauterine growth retardation and birth weight.

    PubMed

    Sram, Radim J; Binkova, Blanka; Lnenickova, Zdena; Solansky, Ivo; Dejmek, Jan

    2005-12-11

    Folate plays an important role in the genomic stability of human cells. In our studies of the impact of environmental pollution on human health, we have found that air pollution can affect pregnancy outcome. As it may be also affected by nutrition, we examined the effect of plasma folate levels of mothers and newborns on intrauterine growth retardation (IUGR) and birth weight (BW) in cohorts from Prague (N=319) and Teplice (N=444). The lower plasma levels (<6.1 nmol/L) were observed in 7.1% of mothers in Prague, and in 9.6% of mothers in Teplice. The higher plasma levels (>36.5 nmol/L) were observed in 28.4% of mothers in Prague, and in 15.7% of mothers in Teplice. The higher plasma levels were observed in 75.4% of newborns in Prague, and 73.2% of newborns in Teplice. When comparing maternal high versus low folate plasma levels and IUGR by logistic regression, the risk of IUGR was significantly decreased for European cohort (according to ethnicity) with gestation age >36 weeks [N=536, OR=0.44, P=0.026], and even more pronounced in the group of European smokers [N=157, OR=0.14, P=0.015]. Using multiple regression analysis, plasma folate levels of mothers and newborns significantly affected the birth weight of newborns of smoking mothers (P<0.05). The obtained results seem to indicate a positive effect of folate on pregnancy outcome, especially its potential to decrease the risk of IUGR in European population and lower birth weight in smoking European mothers. It would be warranted to study the effect of folate levels on pregnancy outcomes in the relationship to different environmental pollution and life styles of mothers. PMID:16099478

  5. Effects of dietary exposure to brominated flame retardant BDE-47 on thyroid condition, gonadal development and growth of zebrafish

    USGS Publications Warehouse

    Torres, Leticia; Orazio, Carl E.; Peterman, Paul H.; Patino, Reynaldo

    2013-01-01

    Little is known about the effects of brominated flame retardants in teleosts and some of the information currently available is inconsistent. This study examined effects of dietary exposure to 2,2′,4,4′-tetrabromodiphenyl ether (BDE-47) on thyroid condition, body mass and size, and gonadal development of zebrafish. Pubertal, 49-day-old (posthatch) fish were fed diets without BDE-47 (control) or with 1, 5 or 25 μg/g BDE-47/diet. Treatments were conducted in triplicate 30-L tanks each containing 50 zebrafish, and 15 fish per treatment (5 per tank) were sampled at days 40, 80 and 120 of exposure. Measurements were taken of body mass, standard length, head depth and head length. Sex (at 40–120 days of exposure), germ cell stage (at 40 days) and thyroid condition (at 120 days; follicular cell height, colloid depletion, angiogenesis) were histologically determined. Whole-body BDE-47 levels at study completion were within the high end of levels reported in environmentally exposed (wild) fishes. Analysis of variance was used to determine differences among treatments at each sampling time. No effects were observed on thyroid condition or germ cell stage in either sex. Reduced head length was observed in females exposed to BDE-47 at 80 days but not at 40 or 120 days. In males, no apparent effects of BDE-47 were observed at 40 and 80 days, but fish exposed to 25 μg/g had lower body mass at 120 days compared to control fish. These observations suggest that BDE-47 at environmentally relevant whole-body concentrations does not affect thyroid condition or pubertal development of zebrafish but does affect growth during the juvenile-to-adult transition, especially in males.

  6. Effects of dietary exposure to brominated flame retardant BDE-47 on thyroid condition, gonadal development and growth of zebrafish.

    PubMed

    Torres, Leticia; Orazio, Carl E; Peterman, Paul H; Patiño, Reynaldo

    2013-10-01

    Little is known about the effects of brominated flame retardants in teleosts and some of the information currently available is inconsistent. This study examined effects of dietary exposure to 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) on thyroid condition, body mass and size, and gonadal development of zebrafish. Pubertal, 49-day-old (posthatch) fish were fed diets without BDE-47 (control) or with 1, 5 or 25 μg/g BDE-47/diet. Treatments were conducted in triplicate 30-L tanks each containing 50 zebrafish, and 15 fish per treatment (5 per tank) were sampled at days 40, 80 and 120 of exposure. Measurements were taken of body mass, standard length, head depth and head length. Sex (at 40-120 days of exposure), germ cell stage (at 40 days) and thyroid condition (at 120 days; follicular cell height, colloid depletion, angiogenesis) were histologically determined. Whole-body BDE-47 levels at study completion were within the high end of levels reported in environmentally exposed (wild) fishes. Analysis of variance was used to determine differences among treatments at each sampling time. No effects were observed on thyroid condition or germ cell stage in either sex. Reduced head length was observed in females exposed to BDE-47 at 80 days but not at 40 or 120 days. In males, no apparent effects of BDE-47 were observed at 40 and 80 days, but fish exposed to 25 μg/g had lower body mass at 120 days compared to control fish. These observations suggest that BDE-47 at environmentally relevant whole-body concentrations does not affect thyroid condition or pubertal development of zebrafish but does affect growth during the juvenile-to-adult transition, especially in males. PMID:23334565

  7. Distal 8p deletion (8) (p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation

    SciTech Connect

    Wu, Bai-Lin; Schneider, G.H.; Sabatino, D.E.

    1996-03-01

    We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolution G and R banding showed in all three patients del(8)(p23.1), but the breakpoint in case 1 was distal to 8p23.1, in case 2 was in the middle of 8p23.1, and in case 3 proximal to 8p23.1. Fluorescence in situ hybridization (FISH) studies with a chromosome 8 paint probe confirmed that no other rearrangement had occurred. FISH with a chromosome 8-specific telomere probe indicated that two patients had terminal deletions. Chromosome analysis of the parents of case 1 and mother of case 2 were normal; the remaining parents were not available for study. Thirteen individual patients including the three in this study, and three relatives in one family with del(8)(p23.1), have been reported in the past 5 years. Major congenital anomalies, especially congenital heart defects, are most often associated with a breakpoint proximal to 8p23.1. Three patients were found within a 3-year period in this study and five cases were found within 4 years by another group, indicating that distal 8p deletion might be a relatively common chromosomal abnormality. This small deletion is easily overlooked (i.e., cases 1 and 2 were reported as normal at amniocentesis) and can be associated with few or no major congenital anomalies. 31 refs., 4 figs., 2 tabs.

  8. Increased Fetal Plasma Erythropoietin in Monochorionic Twin Pregnancies With Selective Intrauterine Growth Restriction and Abnormal Umbilical Artery Doppler.

    PubMed

    Chang, Yao-Lung; Chao, An-Shine; Peng, Hsiu-Huei; Chang, Shuenn-Dyh; Su, Sheng-Yuan; Chen, Kuan-Ju; Cheng, Po-Jen; Wang, Tzu-Hao

    2016-08-01

    Hypoxia is the primary stimulus for the production of erythropoietin (EPO) in both fetal and adult life. Here, we investigated fetal plasma EPO concentrations in monochorionic (MC) twin pregnancies with selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery (UA) Doppler. We diagnosed sIUGR in presence of (1) birth-weight discordance >20% and (2) either twin with a birth weight <10th percentile. An abnormal UA Doppler was defined as a persistent absent-reverse end diastolic flow (AREDF). The intertwin EPO ratio was calculated as the plasma EPO level of the smaller (or small-for-gestational-age) twin divided by the EPO concentration of the larger (or appropriate-for-gestational-age (AGA)) twin. Thirty-two MC twin pairs were included. Of these, 17 pairs were normal twins (Group 1), seven pairs were twins with sIUGR without UA Doppler abnormalities (Group 2), and eight pairs were twins with sIUGR and UA Doppler abnormalities (Group 3). The highest EPO ratio was identified in Group 3 (p < .001) but no significant differences were observed between Groups 1 and 2. Fetal hemoglobin levels did not differ significantly in the three groups, and fetal EPO concentration did not correlate with gestational age at birth. We conclude that fetal plasma EPO concentrations are selectively increased in MC twin pregnancies with sIUGR and abnormal UA Doppler, possibly as a result of uncompensated hypoxia. PMID:27161360

  9. [A description of early hydrocephalus with macrocephaly, cerebral palsy, epilepsy, intellectual disability, and growth retardation by Norwegian novelist Amalie Skram (1846-1905)].

    PubMed

    Hassel, Bjørnar

    2012-12-11

    In her novel «S.G. Myre» written in 1890, Norwegian author Amalie Skram describes Hans (Hansemann) Tønnesen, a 16-year-old boy with an enormous head, convulsions, and a rudimentary command of language. He is bullied by children in the street and is held in low esteem by his mother, who refers to him as a beast, crazy, or «a cross». Presumably, the boy has hydrocephalus with macrocephaly, epilepsy, and mental retardation. His retarded growth, small teeth and cracked skin suggest growth hormone deficiency resulting from his hydrocephalus. A couple of interesting details, such as his «splaying his fingers and moving them in various directions to make himself understood» and his «becoming red with exertion and grimacing terribly» when trying to speak, suggest extrapyramidal, dyskinetic cerebral palsy. He may also be deaf. A cousin of Skram's shared several of these traits and is a likely model for Hansemann. A question that occurs to a modern reader is to what degree Hansemann is mentally retarded, or whether he is wrongly perceived as such because of his physical challenges and his communication problems. PMID:23338097

  10. Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers.

    PubMed

    Wieczorek, Dagmar; Bartsch, Oliver; Lechno, Stanislav; Kohlhase, Jürgen; Peters, Dorien J M; Dauwerse, Hans; Gillessen-Kaesbach, Gabriele; Hennekam, Raoul C M; Passarge, Eberhard

    2009-12-01

    The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree. Ten percent of patients with RTS have a microdeletion 16p13.3, 40-50% carry a mutation of the CREBBP gene and another 3% have a mutation in the EP300 gene. In the remaining patients with clinically suspected RTS no mutation can be detected. Here we describe two patients with an RTS phenotype, one with a mutation in the CREBBP gene and the other without a detectable CREBBP or EP300 mutation and without a chromosomal imbalance on high-resolution arrays. Both patients present with the characteristic facial RTS phenotype, broad thumbs and big toes, mild MR, formation of keloids and glaucoma, but without postnatal growth retardation or microcephaly. In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS. PMID:19938080

  11. Short-term treatment with VEGF receptor inhibitors induces retinopathy of prematurity-like abnormal vascular growth in neonatal rats.

    PubMed

    Nakano, Ayuki; Nakahara, Tsutomu; Mori, Asami; Ushikubo, Hiroko; Sakamoto, Kenji; Ishii, Kunio

    2016-02-01

    Retinal arterial tortuosity and venous dilation are hallmarks of plus disease, which is a severe form of retinopathy of prematurity (ROP). In this study, we examined whether short-term interruption of vascular endothelial growth factor (VEGF) signals leads to the formation of severe ROP-like abnormal retinal blood vessels. Neonatal rats were treated subcutaneously with the VEGF receptor (VEGFR) tyrosine kinase inhibitors, KRN633 (1, 5, or 10 mg/kg) or axitinib (10 mg/kg), on postnatal day (P) 7 and P8. The retinal vasculatures were examined on P9, P14, or P21 in retinal whole-mounts stained with an endothelial cell marker. Prevention of vascular growth and regression of some preformed capillaries were observed on P9 in retinas of rats treated with KRN633. However, on P14 and P21, density of capillaries, tortuosity index of arterioles, and diameter of veins significantly increased in KRN633-treated rats, compared to vehicle (0.5% methylcellulose)-treated animals. Similar observations were made with axitinib-treated rats. Expressions of VEGF and VEGFR-2 were enhanced on P14 in KRN633-treated rat retinas. The second round of KRN633 treatment on P11 and P12 completely blocked abnormal retinal vascular growth on P14, but thereafter induced ROP-like abnormal retinal blood vessels by P21. These results suggest that an interruption of normal retinal vascular development in neonatal rats as a result of short-term VEGFR inhibition causes severe ROP-like abnormal retinal vascular growth in a VEGF-dependent manner. Rats treated postnatally with VEGFR inhibitors could serve as an animal model for studying the mechanisms underlying the development of plus disease. PMID:26500193

  12. Apparent Ruvalcaba syndrome with genitourinary abnormalities.

    PubMed

    Bialer, M G; Wilson, W G; Kelly, T E

    1989-07-01

    The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental retardation. We report on a 22-year-old woman with severe growth and mental retardation and numerous manifestations characteristic of the Ruvalcaba syndrome. In addition, she has several anomalies not previously described in the Ruvalcaba syndrome, including upslanting palpebral fissures, torus palatinus, hiatal hernia with gastroesophageal reflux, recurrent respiratory infections, pectus excavatum, equinovarous deformity, hypotonia, unilateral renal hypoplasia, an accessory ovary, and atretic fallopian tube. Review of published reports of Ruvalcaba syndrome confirms variability of the clinical and radiographic changes. Findings present in at least 50% of reported patients include mental retardation, short stature, pubertal delay, an abnormal nose (usually beaked) with hypoplastic nasal alae, microstomia with narrow maxilla, thin upper lip vermilion, broad hips, small hands, joint limitation, short fingers and toes, and vertebral abnormalities. Because 5 of the reported patients had renal abnormalities, a renal ultrasound or contrast study is indicated in the evaluation of these patients. Additional reports, particular from multiplex families, will be important to better characterize this syndrome. PMID:2679089

  13. Growth and differentiation of circulating hemopoietic stem cells with atomic bomb irradiation-induced chromosome abnormalities

    SciTech Connect

    Amenomori, T.; Honda, T.; Otake, M.; Tomonaga, M.; Ichimaru, M.

    1988-11-01

    The effects of atomic bomb irradiation on hemopoietic stem cells were studied cytogenetically using single colonies derived from hemopoietic progenitor cells. The subjects studied were 21 healthy atomic bomb survivors (10 males and 11 females) in the high dose exposure group (100+ rad) with a known high incidence (10% or more) of radiation-induced chromosome abnormalities in their peripheral blood lymphocytes (stimulated with phytohemagglutinin), and 11 nonexposed healthy controls (5 males and 6 females). Colony formation by circulating granulocyte-macrophage (GM-CFC) and erythroid (BFU-E) progenitor cells was made by the methylcellulose method using peripheral blood mononuclear cells. Chromosome specimens were prepared from single colonies by our micromethod. The total number of colonies analyzed in the exposed group was 131 for GM-CFC and 75 for BFU-E. Chromosome abnormalities were observed in 15 (11.5%) and 9 (12.0%) colonies, respectively. In the control group, the total number of colonies analyzed was 61 for GM-CFC and 41 for BFU-E. None of these colonies showed chromosome abnormalities. The difference in incidence of chromosome abnormalities was highly significant by an exact test; p = 0.003 for GM-CFC and 0.017 for BFU-E. The karyotypes of chromosome abnormalities obtained from the colonies in the exposed group were mostly translocations, but deletion and marker chromosomes were also observed. In two individuals, such karyotypic abnormalities as observed in the peripheral lymphocytes were also seen in the myeloid progenitor cells. This finding suggests that atomic bomb irradiation produced a chromosome aberration on multipotent hemopoietic stem cells common to myeloid and lymphoid lineages.

  14. Combretastatin A-4 inhibits cell growth and metastasis in bladder cancer cells and retards tumour growth in a murine orthotopic bladder tumour model

    PubMed Central

    Shen, Cheng-Huang; Shee, Jia-Jen; Wu, Jin-Yi; Lin, Yi-Wen; Wu, Jiann-Der; Liu, Yi-Wen

    2010-01-01

    BACKGROUND AND PURPOSE Bladder cancer is a highly recurrent cancer after intravesical therapy, so new drugs are needed to treat this cancer. Hence, we investigated the anti-cancer activity of combretastatin A-4 (CA-4), an anti-tubulin agent, in human bladder cancer cells and in a murine orthotopic bladder tumour model. EXPERIMENTAL APPROACH Cytotoxicity of CA-4 was measured by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, propidium iodide (PI) staining assay and clonogenic survival assay. In vivo microtubule assembly assay, cell cycle analyses, Western blot and cell migration assay were used to study the mechanism of CA-4. The effect of intravesical CA-4 therapy on the development of tumours was studied in the murine orthotopic bladder tumour model. KEY RESULTS CA-4 inhibited microtubule polymerization in vivo. Cytotoxic IC50 values of CA-4 in human bladder cancer cells were below 4 nM. Analyses of cell-cycle distribution showed CA-4 obviously induced G2-M phase arrest with sub-G1 formation. The analyses of apoptosis showed that CA-4 induced caspase-3 activation and decreased BubR1 and Bub3 in cancer cells. In addition to apoptosis, CA-4 was also found to induce the formation of multinucleated cells. CA-4 had a significantly reduced cell migration in vitro. Importantly, the in vivo study revealed that intravesical CA-4 therapy retarded the development of murine bladder tumours. CONCLUSIONS AND IMPLICATIONS These data demonstrate that CA-4 kills bladder cancer cells by inducing apoptosis and mitotic catastrophe. It inhibited cell migration in vitro and tumour growth in vivo. Hence, CA-4 intravesical therapy could provide another strategy for treating superficial bladder cancers. PMID:20649598

  15. Echocardiographic abnormalities in the mucopolysaccharide storage diseases.

    PubMed

    Gross, D M; Williams, J C; Caprioli, C; Dominguez, B; Howell, R R

    1988-01-01

    The mucopolysaccharide storage diseases express themselves clinically with a wide variety of abnormalities, including growth and mental retardation, skeletal abnormalities, clouded corneas, nerve compression syndromes, upper airway obstruction and cardiovascular involvement, to name the most common. In most cases the cause of early death is cardiorespiratory failure secondary to cardiovascular involvement and upper airway obstruction. The findings of cardiac ultrasound examination in 29 children, adolescents and young adults are presented. In addition to the previously well-described abnormalities of the mitral and aortic valves in several types of mucopolysaccharide storage disease, we report patchy involvement in some cases, 3 instances of asymmetric septal hypertrophy not previously reported in mucopolysaccharide storage diseases, cardiac involvement in half of our patients with Sanfilippo syndrome and a lack of age-related severity of cardiac involvement even within the specific syndromes. PMID:3122547

  16. Circulating levels of fibrin/fibrinogen degradation fragment E in normal pregnancy, and in association with intrauterine growth retardation and perinatal asphyxia.

    PubMed

    Gordon, Y B; Ratky, S M; Sola, C M; Lewis, J; Baker, L R; Chard, T

    1975-12-01

    Levels of fibrin/fibrinogen degradation products have been measured by aspecific and sensitive radioimmunoassay for degradation fragment E (FgE) in pregnant patients. Maternal FgE levels rose from the 16th week reaching a plateau at the 36th week in normal pregnancy. There was no correlation between maternal FgE levels and maternal age, parity or the occurrence of perinatal asphyxia. A minority of patients (5 per cent) with evidence of intrauterine growth retardation showed prolonged elevation of FgE levels. PMID:1203212

  17. Effect of Process Parameters on Abnormal Grain Growth during Friction Stir Processing of a Cast Al Alloy

    SciTech Connect

    Jana, Saumyadeep; Mishra, Rajiv S.; Baumann, John A.; Grant, Glenn J.

    2010-11-25

    The effects of process parameters and friction stir processing (FSP) run configurations on the stability of nugget microstructure at elevated temperatures were evaluated. Cast plates of an Al-7Si- 0.6Mg alloy were friction stir processed using a combination of tool rotation rates and tool traverse speeds. All single pass runs showed some extent of abnormal grain growth (AGG), whereas multi-pass runs were more resistant to AGG. Additionally, higher tool rpm was found to be beneficial for controlling AGG. These effects were analyzed by comparing the result of this work with other published results and AGG models.

  18. Combined effects of malathion and nitrate on early growth, abnormalities, and mortality of wood frog (Rana sylvatica) tadpoles.

    PubMed

    Krishnamurthy, S V; Smith, G R

    2011-08-01

    Use of pesticides and other agro-chemicals adversely influence amphibians either directly by killing them or by inducing sublethal, chronic effects. Many studies have investigated the effect of mixtures of pesticides or fertilizers. We studied the combined effects of nitrate and malathion ([(dimethoxy phosphino thioyl] butanediotae) on the early growth, expression of abnormalities, and mortality of Wood Frog (Rana sylvatica) tadpoles in a laboratory experiment. Tadpoles were treated with factorial combinations of 0, 8, and 16 mg NO(3)-N l(-1) and 0, 250, 500, and 1,000 μg malathion l(-1) for a period of 14 days. Feeding behaviour, total length, mean tadpole mass, frequencies of abnormalities, and survivorship in each treatment were recorded. Malathion showed a significant negative influence on all parameters and strongly influenced the frequencies of morphological anomalies. In contrast, nitrate alone did not produce any significant effects on behavior, total length, tadpole mass, or the frequency of abnormalities during the experiment. Malathion and nitrate had an interactive effect on tadpole length and mass, but did not affect any other parameters. Our results suggest that exposure to malathion, even at relatively low concentrations can have serious negative consequences for Wood Frog tadpoles. In addition, our results also indicate that there was little synergistic interaction between malathion and nitrate exposure under laboratory conditions. PMID:21533775

  19. Abnormal Cortical Development after Premature Birth Shown by Altered Allometric Scaling of Brain Growth

    PubMed Central

    Kapellou, Olga; Counsell, Serena J; Kennea, Nigel; Dyet, Leigh; Saeed, Nadeem; Stark, Jaroslav; Maalouf, Elia; Duggan, Philip; Ajayi-Obe, Morenike; Hajnal, Jo; Allsop, Joanna M; Boardman, James; Rutherford, Mary A; Cowan, Frances; Edwards, A. David

    2006-01-01

    Background We postulated that during ontogenesis cortical surface area and cerebral volume are related by a scaling law whose exponent gives a quantitative measure of cortical development. We used this approach to investigate the hypothesis that premature termination of the intrauterine environment by preterm birth reduces cortical development in a dose-dependent manner, providing a neural substrate for functional impairment. Methods and Findings We analyzed 274 magnetic resonance images that recorded brain growth from 23 to 48 wk of gestation in 113 extremely preterm infants born at 22 to 29 wk of gestation, 63 of whom underwent neurodevelopmental assessment at a median age of 2 y. Cortical surface area was related to cerebral volume by a scaling law with an exponent of 1.29 (95% confidence interval, 1.25–1.33), which was proportional to later neurodevelopmental impairment. Increasing prematurity and male gender were associated with a lower scaling exponent (p < 0.0001) independent of intrauterine or postnatal somatic growth. Conclusions Human brain growth obeys an allometric scaling relation that is disrupted by preterm birth in a dose-dependent, sexually dimorphic fashion that directly parallels the incidence of neurodevelopmental impairments in preterm infants. This result focuses attention on brain growth and cortical development during the weeks following preterm delivery as a neural substrate for neurodevelopmental impairment after premature delivery. PMID:16866579

  20. Abnormal gut integrity is associated with reduced linear growth in rural Malawian children

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The aim of the present study was to investigate the relation of environmental enteropathy, as measured by the dual sugar absorption test, to linear growth faltering in 2- to 5-year-old Malawian children. Dietary quality, food insecurity, anthropometry, and site-specific sugar testing were measured i...

  1. Public health implications of components of plastics manufacture. Flame retardants.

    PubMed Central

    Pearce, E M; Liepins, R

    1975-01-01

    The four processes involved in the flammability of materials are described and related to the various flame retardance mechanisms that may operate. Following this the four practical approaches used in improving flame retardance of materials are described. Each approach is illustrated with a number of typical examples of flame retardants or synthetic procedures used. This overview of flammability, flame retardance, and flame retardants used is followed by a more detailed examination of most of the plastics manufactured in the United States during 1973, their consumption patterns, and the primary types of flame retardants used in the flame retardance of the most used plastics. The main types of flame retardants are illustrated with a number of typical commercial examples. Statistical data on flame retardant market size, flame retardant growth in plastics, and price ranges of common flame retardants are presented. Images FIGURE 1. FIGURE 2. FIGURE 3. FIGURE 4. PMID:1175568

  2. Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.

    PubMed

    Kawashima, Nagako; Tsuji, Daisuke; Okuda, Tetsuya; Itoh, Kohji; Nakayama, Ken-ichi

    2009-11-01

    Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes the beta-subunit of N-acetyl-beta-hexosaminidase A and B, resulting in the accumulation of the ganglioside GM2. We isolated astrocytes from the neonatal brain of Sandhoff disease model mice in which the N-acetyl-beta-hexosaminidase beta-subunit gene is genetically disrupted (ASD). Glycolipid profiles revealed that GM2/GA2 accumulated in the lysosomes and not on the cell surface of ASD astrocytes. In addition, GM3 was increased on the cell surface. We found remarkable differences in the cell proliferation of ASD astrocytes when compared with cells isolated from wild-type mice, with a faster growth rate of ASD cells. In addition, we observed increased extracellular, signal-regulated kinase (ERK) phosphorylation in ASD cells, but Akt phosphorylation was decreased. Furthermore, the phosphorylation of ERK in ASD cells was not dependent upon extracellular growth factors. Treatment of ASD astrocytes with recombinant N-acetyl-beta-hexosaminidase A resulted in a decrease of their growth rate and ERK phosphorylation. These results indicated that the up-regulation of ERK phosphorylation and the increase in proliferation of ASD astrocytes were dependent upon GM2/GA2 accumulation. These findings may represent a mechanism in linking the nerve cell death and reactive gliosis observed in Sandhoff disease. PMID:19765188

  3. Peri-Implantation Hormonal Milieu: Elucidating Mechanisms of Abnormal Placentation and Fetal Growth1

    PubMed Central

    Mainigi, Monica A.; Olalere, Devvora; Burd, Irina; Sapienza, Carmen; Bartolomei, Marisa; Coutifaris, Christos

    2013-01-01

    ABSTRACT Assisted reproductive technologies (ART) have been associated with several adverse perinatal outcomes involving placentation and fetal growth. It is critical to examine each intervention individually in order to assess its relationship to the described adverse perinatal outcomes. One intervention ubiquitously used in ART is superovulation with gonadotropins. Superovulation results in significant changes in the hormonal milieu, which persist during the peri-implantation and early placentation periods. Epidemiologic evidence suggests that the treatment-induced peri-implantation maternal environment plays a critical role in perinatal outcomes. In this study, using the mouse model, we have isolated the exposure to the peri-implantation period, and we examine the effect of superovulation on placentation and fetal growth. We report that the nonphysiologic peri-implantation maternal hormonal environment resulting from gonadotropin stimulation appears to have a direct effect on fetal growth, trophoblast differentiation, and gene expression. This appears to be mediated, at least in part, through trophoblast expansion and invasion. Although the specific molecular and cellular mechanism(s) leading to these observations remain to be elucidated, identifying this modifiable risk factor will not only allow us to improve perinatal outcomes with ART, but help us understand the pathophysiology contributing to these outcomes. PMID:24352558

  4. Parallel three-dimensional Monte Carlo simulations for effects of precipitates and sub-boundaries on abnormal grain growth of Goss grains in Fe-3%Si steel

    NASA Astrophysics Data System (ADS)

    Park, Chang-Soo; Na, Tae-Wook; Kang, Jul-Ki; Lee, Byeong-Joo; Han, Chan-Hee; Hwang, Nong-Moon

    2013-12-01

    Using parallel three-dimensional Monte Carlo simulations, we investigated the effects of precipitates and sub-boundaries on abnormal grain growth (AGG) of Goss grains based on real orientation data of primary recrystallized Fe-3%Si steel. The simulations showed that AGG occurred in the presence of precipitates which inhibited the grain growth of matrix grains, whereas it did not in the absence of precipitates. The role of precipitates in enhancing AGG is to maintain a relatively high fraction of high energy boundaries between matrix grains, which increases the probability of sub-boundary-enhanced solid-state wetting of an abnormally growing grain. The microstructure evolved by the simulation could reproduce many realistic features of abnormally growing grains, such as the formation of island and peninsular grains and merging of abnormally growing grains which appeared to be separated initially on the cross-section.

  5. Photoreceptor-specific protein expression of mouse retina in organ culture and retardation of rd degeneration in vitro by a combination of basic fibroblast and nerve growth factors.

    PubMed

    Caffé, A R; Söderpalm, A; van Veen, T

    1993-08-01

    Previously we have presented the morphological features of a neonatal mouse retinal explant kept in culture for 3 to 4 weeks. To further evaluate the organotypic parameters of the tissue we have examined the presence of opsin, S-antigen, and interphotoreceptor retinoid-binding protein (IRBP) in the same experimental paradigm, using light microscopic immunocytochemistry. In vitro, opsin and S-antigen staining is found in photoreceptor somata from genetically normal explants and those derived from mice with the rd or the rds mutation. When present, inner and outer segments label more intensely. No IRBP staining has been found in cell bodies of any genotype. However, some labeling is found in the plexiform layers and in the inner segments. The results indicate that photoreceptor proteins are continuously produced in vitro. This further establishes the organotypic nature of the retinal explant in culture. The administration of growth factors to these explants has been investigated. Neither basic fibroblast growth factor nor nerve growth factor alone has affected the explants phenotype. However, the combination of these proteins has significantly retarded rd cell loss in vitro. PMID:8222732

  6. Role of abnormal anterior pituitary hormones-growth hormone and prolactin in active systemic lupus erythematosus

    PubMed Central

    Zhu, Xiaohua; Xu, Jinhua; Li, Shujuan; Huang, Wen; Li, Feng

    2015-01-01

    Background: The role of anterior pituitary hormones in systemic lupus erythematosus (SLE) remains controversial. Aims and Objectives: We determined the expression levels of human growth hormone (GH), prolactin (PRL), and their receptors in subjects presenting with SLE, and modulation of disease severity. Materials and methods: Forty-seven subjects and ten healthy controls were assessed for possible association between SLE disease activity and levels of serum PRL, GH and thyrotropin-releasing hormone (TRH). In peripheral blood mononuclear cells (PBMC), specific binding and mRNA expression of receptors for GH (GHR), and PRL (PRLR) were determined by receptor-ligand binding assay (RLBA) and RT-PCR. PBMC of recruited subjects were treated with hPRL and rhGH to assess IgG production and antibodies against dsDNA. Results: In active SLE subjects we found elevated PRL and GH levels. Study subject PBMCs displayed augmented GHR and PRLR protein and mRNA expression. Study subjects also showed a positive correlation in serum PRL levels and specific antibodies against dsDNA, SLE disease activity index (SLEDAI), and proteinuria. However, a negative correlation was found between serum PRL levels and complement component C3. We found a positive correlation between specific binding rates of PRLR and GHR and both SLE activity and dsDNA antibody titers. Enhanced IgG and anti-dsDNA secretion was observed in cultured PBMC stimulated by PRL or GH with/without PHA, PWM, IL-2 or IL-10. In active SLE, a close association was found between augmented PRL and GH levels, expression and specific binding activities of PRLR and GHR, and changes in the specific titer of anti-dsDNA. Conclusion: Anterior pituitary hormones play an important role in the pathogenesis of SLE. High levels of growth hormone (GH) and prolactin (PRL) play a role in pathogenesis of SLE, which is correlated with SLE disease activity and antibodies against dsDNA. The mechanism of GH and PRL in SLE was complicated and should

  7. Urinary insulin-like growth factor-II excretion in healthy infants and children with normal and abnormal growth.

    PubMed

    Quattrin, T; Albini, C H; Sportsman, C; Shine, B J; MacGillivray, M H

    1993-10-01

    The output of urinary IGF-II was measured by RIA in 12-h overnight urine samples obtained from 22 preterm and 15 full-term infants, 40 normal children, 18 children with growth hormone (GH) deficiency, and 25 patients with idiopathic short stature. GH deficiency was defined as a peak to GH provocative tests < or = 9.9 micrograms/L during two provocative tests. The authenticity of urinary IGF-II was confirmed by size exclusion chromatography. Statistical analysis was performed by one-way analysis of variance using the Student Neuman-Keuls test to detect intergroup differences at the level of p < 0.05. The preterm and full-term infants excreted significantly higher amounts of urinary IGF-II (18.4 +/- 1.7 and 5.7 +/- 1.0 pmol/kg, respectively) compared with normal children (2.4 +/- 0.25 pmol/kg; p < 0.001). The output of urinary IGF-II in preterm infants was greater than that observed in full-term infants (F = 84.7, p < 0.001). The control children excreted significantly more IGF-II (2.4 +/- 0.2 pmol/kg) than children with GH deficiency (0.9 +/- 0.1 pmol/kg) or idiopathic short stature (1.0 +/- 0.1 pmol/kg; F = 13.5; p < 0.001). Analysis of urinary IGF-II excretion based on creatinine output yielded similar results. Data on urinary IGF-I and GH previously published were correlated and compared with the excretion pattern of urinary IGF-II.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8255673

  8. Retardation of Listeria monocytogenes growth in mozzarella cheese using antimicrobial sachets containing rosemary oil and thyme oil.

    PubMed

    Han, Jung H; Patel, Dhaval; Kim, Jung Eun; Min, Sea C

    2014-11-01

    An antimicrobial sachet containing microcellular foam starch (MFS) with embedded rosemary oil and thyme oil was developed to reduce bacterial growth in shredded mozzarella cheese. The efficacy of the volatiles of oils at various concentrations in reducing Listeria monocytogenes as well as the release of the oils from the MFS have been also determined in this study. The cheese, inoculated with a cocktail of 5 strains of L. monocytogenes (approximately 3 log CFU/g), was packaged in a Nylon/EVOH/PE bag. A paper sachet containing MFS embedded with rosemary oil and thyme oil, separately or together, was inserted into the bag. Rosemary and thyme oil volatiles released from the sachet restricted the growth of L. monocytogenes, resulting in a 2.5 log CFU/g reduction on day 9 at 10 °C. The volatile oils also showed inhibitory effects on the growth of lactic acid bacteria (LAB) and total aerobic bacteria (TAB). After 15 d at 10 °C, the numbers of LAB and TAB in the samples containing the sachet with both oils experienced a 1.2 and 1.4 log CFU/g reduction, respectively, compared to untreated samples. Nonetheless, the sachet treatment produced a distinct odor, unfavorably received by the panelists. The results suggest the potential for application of the sachet system for the reduction of growth of L. monocytogenes, LAB, and TAB in food products. PMID:25243791

  9. GROWTH PLATE ABNORMALITIES IN PEDIATRIC CANCER PATIENTS UNDERGOING PHASE 1 ANTI-ANGIOGENIC THERAPY: A REPORT FROM THE CHILDREN’S ONCOLOGY GROUP PHASE I CONSORTIUM

    PubMed Central

    Voss, Stephan D.; Glade-Bender, Julia; Spunt, Sheri L.; DuBois, Steven G.; Widemann, Brigitte C.; Park, Julie R.; Leary, Sarah E. S.; Nelson, Marvin D.; Adamson, Peter C.; Blaney, Susan M.; Weigel, Brenda

    2014-01-01

    Purpose Pre-clinical studies suggest that anti-angiogenic agents may be toxic to the developing growth plate. The purpose of this study was to evaluate the incidence of growth plate abnormalities in children with refractory cancer undergoing anti-angiogenic therapy. Materials and methods Targeted radiographic studies from 53 subjects enrolled on six separate Children’s Oncology Group Phase 1 and Pilot Consortium clinical trials evaluating new anti-cancer agents agents interfering with angiogenesis were reviewed. Subjects received tyrosine kinase inhibitors with anti-angiogenic effects (n=35), monoclonal antibodies targeting VEGF (n=13), or angiopoietin (n=5). Radiographs of their distal femur/proximal tibia were obtained at baseline. Follow-up radiographs were obtained after odd-numbered treatment cycles in patients with open growth plates who did not experience disease progression prior to cycle 3. Results Baseline and follow-up growth plate radiographs were acquired in 48/53 (90%) of patients. Five patients (9.4%), all of whom received a specific VEGF/VEGFR blocking agent [sunitinib (n=1) or pazopanib (n=4)], had growth plate abnormalities. Four patients had growth plate widening that was apparent on at least two successive radiographs, but was not confirmed by MRI. The fifth patient had progressive growth plate widening and evidence of physeal cartilage hypertrophy on MRI. Subsequent off treatment radiographs showed that the growth plate changes were reversible. Conclusion Growth plate abnormalities occur in a small, but relevant number of patients undergoing anti-angiogenic therapy. These results support the need for growth plate monitoring in children with open growth plates who are receiving anti-angiogenic therapy, and for improved methods to assess toxicity of anti-angiogenic agents to the developing skeleton. PMID:25257751

  10. Cytogenetic evaluation of human glial tumors: correlation of overexpression of epidermal growth factor receptor (EGFB) with abnormalities of chromosome 7

    SciTech Connect

    Bell, C.W.

    1987-01-01

    Chromosome banding analysis of human glial tumors were performed using G- and Q-banding techniques in an attempt to establish recurring sites of chromosome change. Results revealed a nonrandom karyotypic profile including aneuploidy and considerable variation in chromosome number (range 40 ..-->.. 200). All tumors examined displayed numerical abnormalities, with the most common numeric change being a gain of chromosome 7. An attempt was then made to correlate the observed chromosome 7 changes with activation of the cellular proto-oncogene c-erb-B, whose produce is the epidermal growth factor receptor (EGFR). Six human glial tumors were analyzed for /sup 125/I-EGF binding, EGFR gene copy number, EGFR gene rearrangement, mRNA expression, and karyotypic profile. Saturation analysis at 4/sup 0/C revealed significant numbers of EGFR's in all 6 tumors. Southern blotting analysis utilizing cDNA probes for the EGFR failed to demonstrate significant amplification or structural rearrangement of the EFGR gene. The results suggest that overexpression of the EGFR may be related to an alternative mechanism, other than gene amplification and elevated mRNA levels, such as the regulation of receptor biosynthesis and degradation. In summary, findings indicate that alterations of chromosome 7 are the most prevalent chromosomal change in human glial tumors, and that these alterations may lead to overexpression of the protooncogene c-erb-B.

  11. Low melatonin production by suppression of either serotonin N-acetyltransferase or N-acetylserotonin methyltransferase in rice causes seedling growth retardation with yield penalty, abiotic stress susceptibility, and enhanced coleoptile growth under anoxic conditions.

    PubMed

    Byeon, Yeong; Back, Kyoungwhan

    2016-04-01

    Serotonin N-acetyltransferase (SNAT) and N-acetylserotonin methyltransferase (ASMT) are the last two key enzymes for melatonin biosynthesis in living organisms. In this study, we demonstrated that transgenic rice (Oryza sativa L.) plants, in which expression of either endogenous SNAT or ASMT was suppressed, had reduced melatonin synthesis, confirming that both SNAT and ASMT are functionally involved in melatonin synthesis. The melatonin-deficient SNAT rice had retarded seedling growth, which was partially restored by exogenous melatonin application, suggesting melatonin's role in seedling growth. In addition, the plants were more sensitive to various abiotic stresses, including salt and cold, compared with the wild type. Melatonin-deficient SNAT rice had increased coleoptile growth under anoxic conditions, indicating that melatonin also inversely regulates plant growth under anaerobic conditions with the concomitant high expression of alcohol dehydrogenase genes. Similarly, the melatonin-deficient ASMT rice exhibited accelerated senescence in detached flag leaves, as well as significantly reduced yield. These loss-of-function studies on the melatonin biosynthetic genes confirmed most previous pharmacological reports that melatonin not only promotes plant growth but also mitigates various abiotic stresses. PMID:26919041

  12. Psychometric analysis in children with mental retardation due to perinatal hypoxia treated with fibroblast growth factor (FGF) and showing improvement in mental development.

    PubMed

    Aguilar, L C; Islas, A; Rosique, P; Hernandez, B; Portillo, E; Herrera, J M; Cortes, R; Cruz, S; Alfaro, F; Martin, R

    1993-12-01

    Basic fibroblast growth factor (bFGF) has shown a neurotrophic effect in the neurons of several CNS areas. In vivo, it contributes to restore neurochemical and morphological deficits in different rodent models of brain damage, including rats with brain damage induced by hypoxia/ischemia when FGF was intramuscularly (i.m.) administered. Toxicological and immunological studies performed in rats, mice and volunteers showed no evidence of side-effects. Bovine FGF was i.m. administered in children with mental retardation caused by perinatal hypoxia, aged 1-15 years, at dosages of 0.4 or 0.28 microgram kg-1, once or twice a month, over 7-12 months. Group A [n = 12; 6 treated (T), 6 controls (Ct)], group B (n = 16; 8 T, 8 Ct) and group C (n = 67; 45 T, 22 Ct) were evaluated with the P. A. R. scale, the WISC-RM and the Gesell scale, respectively. Development increased significantly in treated children from groups A (P < 0.02) and C (P < 0.001), and IQ rose by more than 10 points (P < 0.001) in group B patients. PMID:8123997

  13. Cadmium accumulation retard activity of functional components of photo assimilation and growth of rice cultivars amended with vermicompost.

    PubMed

    Sebastian, Abin; Prasad, M N V

    2013-01-01

    Cadmium (Cd) uptake mediated alterations in functional components of photo assimilation during conversion of cow dung and poultry cast to vermicompost were studied in two Indian rice cultivars; MO 16 and MTU 7029. It was found that higher amount of Cd accumulate in plants grown in soil amended with vermicompost which in turn damaged functional components in photo assimilation. Enhancement of root growth was recognized as reason for Cd accumulation. Metabolic alterations noticed among plants were not taken place during application of raw materials used for vermicomposting such as cow dung and poultry cast amendment. Rice varieties accumulated Cd differentially where MTU 7029 accumulated more Cd compare to MO 16. It was also noticed that existence of negative correlation between zinc status of the plant and Cd accumulation. PMID:23819289

  14. Ethylene Antagonizes Salt-Induced Growth Retardation and Cell Death Process via Transcriptional Controlling of Ethylene-, BAG- and Senescence-Associated Genes in Arabidopsis.

    PubMed

    Pan, Ya-Jie; Liu, Ling; Lin, Ying-Chao; Zu, Yuan-Gang; Li, Lei-Peng; Tang, Zhong-Hua

    2016-01-01

    The existing question whether ethylene is involved in the modulation of salt-induced cell death to mediate plant salt tolerance is important for understanding the salt tolerance mechanisms. Here, we employed Arabidopsis plants to study the possible role of ethylene in salt-induced growth inhibition and programmed cell death (PCD) profiles. The root length, DNA ladder and cell death indicated by Evan's blue detection were measured by compared to the control or salt-stressed seedlings. Secondly, the protoplasts isolated from plant leaves and dyed with Annexin V-FITC were subjected to flow cytometric (FCM) assay. Our results showed that ethylene works effectively in seedling protoplasts, antagonizing salt-included root retardation and restraining cell death both in seedlings or protoplasts. Due to salinity, the entire or partial insensitivity of ethylene signaling resulted in an elevated levels of cell death in ein2-5 and ein3-1 plants and the event were amended in ctr1-1 plants after salt treatment. The subsequent experiment with exogenous ACC further corroborated that ethylene could modulate salt-induced PCD process actively. Plant Bcl-2-associated athanogene (BAG) family genes are recently identified to play an extensive role in plant PCD processes ranging from growth, development to stress responses and even cell death. Our result showed that salinity alone significantly suppressed the transcripts of BAG6, BAG7 and addition of ACC in the saline solution could obviously re-activate BAG6 and BAG7 expressions, which might play a key role to inhibit the salt-induced cell death. In summary, our research implies that ethylene and salinity antagonistically control BAG family-, ethylene-, and senescence-related genes to alleviate the salt-induced cell death. PMID:27242886

  15. Ethylene Antagonizes Salt-Induced Growth Retardation and Cell Death Process via Transcriptional Controlling of Ethylene-, BAG- and Senescence-Associated Genes in Arabidopsis

    PubMed Central

    Pan, Ya-Jie; Liu, Ling; Lin, Ying-Chao; Zu, Yuan-Gang; Li, Lei-Peng; Tang, Zhong-Hua

    2016-01-01

    The existing question whether ethylene is involved in the modulation of salt-induced cell death to mediate plant salt tolerance is important for understanding the salt tolerance mechanisms. Here, we employed Arabidopsis plants to study the possible role of ethylene in salt-induced growth inhibition and programmed cell death (PCD) profiles. The root length, DNA ladder and cell death indicated by Evan's blue detection were measured by compared to the control or salt-stressed seedlings. Secondly, the protoplasts isolated from plant leaves and dyed with Annexin V-FITC were subjected to flow cytometric (FCM) assay. Our results showed that ethylene works effectively in seedling protoplasts, antagonizing salt-included root retardation and restraining cell death both in seedlings or protoplasts. Due to salinity, the entire or partial insensitivity of ethylene signaling resulted in an elevated levels of cell death in ein2-5 and ein3-1 plants and the event were amended in ctr1-1 plants after salt treatment. The subsequent experiment with exogenous ACC further corroborated that ethylene could modulate salt-induced PCD process actively. Plant Bcl-2-associated athanogene (BAG) family genes are recently identified to play an extensive role in plant PCD processes ranging from growth, development to stress responses and even cell death. Our result showed that salinity alone significantly suppressed the transcripts of BAG6, BAG7 and addition of ACC in the saline solution could obviously re-activate BAG6 and BAG7 expressions, which might play a key role to inhibit the salt-induced cell death. In summary, our research implies that ethylene and salinity antagonistically control BAG family-, ethylene-, and senescence-related genes to alleviate the salt-induced cell death. PMID:27242886

  16. Chromosomal Abnormalities and Schizophrenia

    PubMed Central

    BASSETT, ANNE S.; CHOW, EVA W.C.; WEKSBERG, ROSANNA

    2011-01-01

    Schizophrenia is a common and serious psychiatric illness with strong evidence for genetic causation, but no specific loci yet identified. Chromosomal abnormalities associated with schizophrenia may help to understand the genetic complexity of the illness. This paper reviews the evidence for associations between chromosomal abnormalities and schizophrenia and related disorders. The results indicate that 22q11.2 microdeletions detected by fluorescence in-situ hybridization (FISH) are significantly associated with schizophrenia. Sex chromosome abnormalities seem to be increased in schizophrenia but insufficient data are available to indicate whether schizophrenia or related disorders are increased in patients with sex chromosome aneuploidies. Other reports of chromosomal abnormalities associated with schizophrenia have the potential to be important adjuncts to linkage studies in gene localization. Advances in molecular cytogenetic techniques (i.e., FISH) have produced significant increases in rates of identified abnormalities in schizophrenia, particularly in patients with very early age at onset, learning difficulties or mental retardation, or dysmorphic features. The results emphasize the importance of considering behavioral phenotypes, including adult onset psychiatric illnesses, in genetic syndromes and the need for clinicians to actively consider identifying chromosomal abnormalities and genetic syndromes in selected psychiatric patients. PMID:10813803

  17. Assessment of the abnormal growth of floating macrophytes in Winam Gulf (Kenya) by using MODIS imagery time series

    NASA Astrophysics Data System (ADS)

    Fusilli, L.; Collins, M. O.; Laneve, G.; Palombo, A.; Pignatti, S.; Santini, F.

    2013-02-01

    The objective of this research study is to assess the capability of time-series of MODIS imagery to provide information suitable for enhancing the understanding of the temporal cycles shown by the abnormal growth of the floating macrophytes in order to support monitoring and management action of Lake Victoria water resources. The proliferation of invasive plants and aquatic weeds is of growing concern. Starting from 1989, Lake Victoria has been interested by the high infestation of water hyacinth with significant socio-economic impact on riparian populations. In this paper, we describe an approach based on the time-series of MODIS to derive the temporal behaviour, the abundance and distribution of the floating macrophytes in the Winam Gulf (Kenyan portion of the Lake Victoria) and its possible links to the concentrations of the main water constituencies. To this end, we consider the NDVI values computed from the MODIS imagery time-series from 2000 to 2009 to identify the floating macrophytes cover and an appropriate bio-optical model to retrieve, by means of an inverse procedure, the concentrations of chlorophyll a, coloured dissolved organic matter and total suspended solid. The maps of the floating vegetation based on the NDVI values allow us to assess the spatial and temporal dynamics of the weeds with high time resolution. A floating vegetation index (FVI) has been introduced for describing the weeds pollution level. The results of the analysis show a consistent temporal relation between the water constituent concentrations within the Winam Gulf and the FVI, especially in the proximity of the greatest proliferation of floating vegetation in the last 10 years that occurred between the second half of 2006 and the first half of 2007.The adopted approach will be useful to implement an automatic system for monitoring and predicting the floating macrophytes proliferation in Lake Victoria.

  18. [Risk factors associated to growth retardation in children 12 to 120 months of age in Arandas, Jalisco, México].

    PubMed

    Vásquez Garibay, Edgar M; Ortiz Ortega, Miguel Angel; Romero Velarde, Enrique; Nápoles Rodríguez, Francisco

    2008-12-01

    The purpose was to identify risk factors associated to deficit on linear growth in children from a semi-rural population in Arandas, Jalisco, Mexico. In a cross sectional study 432 children, 12 to 120 months old were included. Social, demographic, economical, dietetic and pathological characteristics and deficit in the height/age index (< - 1 and - 2 z score) were considered. A chi square test and Odds Ratio (CI 95%) to identify the risk and protection factors were also obtained. Risk factors for height/age deficit were: > 3 children in the family [OR 1.71 (1.01, 2.87)], soft drinks consumption > 4 times a week [OR 2.36 (1.19-4.73)], family's monthly income < 200 USA dollars [OR 3.5 (1.28, 9.76)] and per capita food expenses < 10% of a minimum salary (100 USA dollars a month) [OR 1.81 (1.06, 3.09)]; age < 24 months [OR 2.02 (1.09, 3.75)], adding sweeteners to the bottle [OR 8.56 (1.84, 54.9)], diet modification during diarrhea [OR 2.40 (1.02, 5.77)], milk intake < 4 times a week [OR 2.71 (1.55, 4.73)] and nearly significant, bean consumption [1.75 (0.98, 3.13). Protection factors: nuclear family [OR 0.28 (0.09, 0.85)] and an adequate infant formula dilution [OR 0.71 (0.60, 0.85)]. In multivariate models associated factors to deficit of height were higher consumption of soft drinks, beans and the addition of sweeteners to the bottle. In addition to socioeconomic variables, lower consumption of high quality food and proteins and higher intake of legumes were important risk factors for mild and moderate deficit height/age. PMID:19368293

  19. Growth Retardation, Reduced Invasiveness, and Impaired Colistin-Mediated Cell Death Associated with Colistin Resistance Development in Acinetobacter baumannii

    PubMed Central

    Poulou, Aggeliki; Dafopoulou, Konstantina; Chabane, Yassine Nait; Kristo, Ioulia; Makris, Demosthenes; Hardouin, Julie; Cosette, Pascal; Tsakris, Athanassios; Dé, Emmanuelle

    2014-01-01

    Two colistin-susceptible/colistin-resistant (Cols/Colr) pairs of Acinetobacter baumannii strains assigned to international clone 2, which is prevalent worldwide, were sequentially recovered from two patients after prolonged colistin administration. Compared with the respective Cols isolates (Ab248 and Ab299, both having a colistin MIC of 0.5 μg/ml), both Colr isolates (Ab249 and Ab347, with colistin MICs of 128 and 32 μg/ml, respectively) significantly overexpressed pmrCAB genes, had single-amino-acid shifts in the PmrB protein, and exhibited significantly slower growth. The Colr isolate Ab347, tested by proteomic analysis in comparison with its Cols counterpart Ab299, underexpressed the proteins CsuA/B and C from the csu operon (which is necessary for biofilm formation). This isolate also underexpressed aconitase B and different enzymes involved in the oxidative stress response (KatE catalase, superoxide dismutase, and alkyl hydroperoxide reductase), suggesting a reduced response to reactive oxygen species (ROS) and, consequently, impaired colistin-mediated cell death through hydroxyl radical production. Cols isolates that were indistinguishable by macrorestriction analysis from Ab299 caused six sequential bloodstream infections, and isolates indistinguishable from Ab248 caused severe soft tissue infection, while Colr isolates indistinguishable from Ab347 and Ab249 were mainly colonizers. In particular, a Cols isolate identical to Ab299 was still invading the bloodstream 90 days after the colonization of this patient by Colr isolates. These observations indicate considerably lower invasiveness of A. baumannii clinical isolates following the development of colistin resistance. PMID:24247145

  20. Growth retardation, reduced invasiveness, and impaired colistin-mediated cell death associated with colistin resistance development in Acinetobacter baumannii.

    PubMed

    Pournaras, Spyros; Poulou, Aggeliki; Dafopoulou, Konstantina; Chabane, Yassine Nait; Kristo, Ioulia; Makris, Demosthenes; Hardouin, Julie; Cosette, Pascal; Tsakris, Athanassios; Dé, Emmanuelle

    2014-01-01

    Two colistin-susceptible/colistin-resistant (Col(s)/Col(r)) pairs of Acinetobacter baumannii strains assigned to international clone 2, which is prevalent worldwide, were sequentially recovered from two patients after prolonged colistin administration. Compared with the respective Col(s) isolates (Ab248 and Ab299, both having a colistin MIC of 0.5 μg/ml), both Col(r) isolates (Ab249 and Ab347, with colistin MICs of 128 and 32 μg/ml, respectively) significantly overexpressed pmrCAB genes, had single-amino-acid shifts in the PmrB protein, and exhibited significantly slower growth. The Col(r) isolate Ab347, tested by proteomic analysis in comparison with its Col(s) counterpart Ab299, underexpressed the proteins CsuA/B and C from the csu operon (which is necessary for biofilm formation). This isolate also underexpressed aconitase B and different enzymes involved in the oxidative stress response (KatE catalase, superoxide dismutase, and alkyl hydroperoxide reductase), suggesting a reduced response to reactive oxygen species (ROS) and, consequently, impaired colistin-mediated cell death through hydroxyl radical production. Col(s) isolates that were indistinguishable by macrorestriction analysis from Ab299 caused six sequential bloodstream infections, and isolates indistinguishable from Ab248 caused severe soft tissue infection, while Col(r) isolates indistinguishable from Ab347 and Ab249 were mainly colonizers. In particular, a Col(s) isolate identical to Ab299 was still invading the bloodstream 90 days after the colonization of this patient by Col(r) isolates. These observations indicate considerably lower invasiveness of A. baumannii clinical isolates following the development of colistin resistance. PMID:24247145

  1. Ophthalmologic Screening of Adults with Mental Retardation.

    ERIC Educational Resources Information Center

    Sacks, Joel G.; And Others

    1991-01-01

    Ophthalmological screening was conducted on 113 clients in a work activity center for adults with mental retardation. Abnormalities that were neither refractive nor strabismic were found in 32 percent of clients. Findings suggest the value of conducting screenings in settings familiar to such clients. (Author/DB)

  2. Abnormal Uterine Bleeding

    MedlinePlus

    ... Abnormal uterine bleeding is any bleeding from the uterus (through your vagina) other than your normal monthly ... or fibroids (small and large growths) in the uterus can also cause bleeding. Rarely, a thyroid problem, ...

  3. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

    PubMed

    van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M

    2014-01-01

    Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. PMID:24259184

  4. Introduction to Mental Retardation

    ERIC Educational Resources Information Center

    Arc of the United States, 2004

    2004-01-01

    The purpose of this document is to define mental retardation and answer questions related to this topic. According to the American Association on Mental Retardation (AAMR), mental retardation is a disability that occurs before age 18. It is characterized by significant limitations in intellectual functioning and adaptive behaviors as expressed in…

  5. Maternal glucocorticoid elevation and associated blood metabonome changes might be involved in metabolic programming of intrauterine growth retardation in rats exposed to caffeine prenatally

    SciTech Connect

    Kou, Hao; Liu, Yansong; Liang, Gai; Huang, Jing; Hu, Jieqiong; Yan, You-e; Li, Xiaojun; Yu, Hong; He, Xiaohua; Zhang, Baifang; Zhang, Yuanzhen; Feng, Jianghua; Wang, Hui

    2014-03-01

    Our previous studies demonstrated that prenatal caffeine exposure causes intrauterine growth retardation (IUGR), fetuses are over-exposed to high levels of maternal glucocorticoids (GC), and intrauterine metabolic programming and associated metabonome alteration that may be GC-mediated. However, whether maternal metabonomes would be altered and relevant metabolite variations might mediate the development of IUGR remained unknown. In the present studies, we examined the dose- and time-effects of caffeine on maternal metabonome, and tried to clarify the potential roles of maternal GCs and metabonome changes in the metabolic programming of caffeine-induced IUGR. Pregnant rats were treated with caffeine (0, 20, 60 or 180 mg/kg · d) from gestational days (GD) 11 to 20, or 180 mg/kg · d caffeine from GD9. Metabonomes of maternal plasma on GD20 in the dose–effect study and on GD11, 14 and 17 in the time–course study were analyzed by {sup 1}H nuclear magnetic resonance spectroscopy, respectively. Caffeine administration reduced maternal weight gains and elevated both maternal and fetal corticosterone (CORT) levels. A negative correlation between maternal/fetal CORT levels and fetal bodyweight was observed. The maternal metabonome alterations included attenuated metabolism of carbohydrates, enhanced lipolysis and protein breakdown, and amino acid accumulation, suggesting GC-associated metabolic effects. GC-associated metabolite variations (α/β-glucoses, high density lipoprotein-cholesterol, β-hydroxybutyrate) were observed early following caffeine administration. In conclusion, prenatal caffeine exposure induced maternal GC elevation and metabonome alteration, and maternal GC and relevant discriminatory metabolites might be involved in the metabolic programming of caffeine-induced IUGR. - Highlights: • Prenatal caffeine exposure elevated maternal blood glucocorticoid levels. • Prenatal caffeine exposure altered maternal blood metabonomes. • Maternal

  6. Medium-chain TAG improve energy metabolism and mitochondrial biogenesis in the liver of intra-uterine growth-retarded and normal-birth-weight weanling piglets.

    PubMed

    Zhang, Hao; Li, Yue; Hou, Xiang; Zhang, Lili; Wang, Tian

    2016-05-01

    We previously reported that medium-chain TAG (MCT) could alleviate hepatic oxidative damage in weanling piglets with intra-uterine growth retardation (IUGR). There is a relationship between oxidative status and energy metabolism, a process involved in substrate availability and glucose flux. Therefore, the aim of this study was to investigate the effects of IUGR and MCT on hepatic energy metabolism and mitochondrial function in weanling piglets. Twenty-four IUGR piglets and twenty-four normal-birth-weight (NBW) piglets were fed a diet of either soyabean oil (SO) or MCT from 21 d of postnatal age to 49 d of postnatal age. Then, the piglets' biochemical parameters and gene expressions related to energy metabolism and mitochondrial function were determined (n 4). Compared with NBW, IUGR decreased the ATP contents and succinate oxidation rates in the liver of piglets, and reduced hepatic mitochondrial citrate synthase (CS) activity (P<0·05). IUGR piglets exhibited reductions in hepatic mitochondrial DNA (mtDNA) contents and gene expressions related to mitochondrial biogenesis compared with NBW piglets (P<0·05). The MCT diet increased plasma ghrelin concentration and hepatic CS and succinate dehydrogenase activities, but decreased hepatic pyruvate kinase activity compared with the SO diet (P<0·05). The MCT-fed piglets showed improved mtDNA contents and PPARγ coactivator-1α expression in the liver (P<0·05). The MCT diet alleviated decreased mRNA abundance of the hepatic PPARα induced by IUGR (P<0·05). It can therefore be postulated that MCT may have beneficial effects in improving energy metabolism and mitochondrial function in weanling piglets. PMID:26960981

  7. Antimicrobial packaging to retard the growth of spoilage bacteria and to reduce the release of volatile metabolites in meat stored under vacuum at 1°C.

    PubMed

    Ferrocino, Ilario; La Storia, Antonietta; Torrieri, Elena; Musso, Salvatore Spagna; Mauriello, Gianluigi; Villani, Francesco; Ercolini, Danilo

    2013-01-01

    A nisin-EDTA solution was used for activation of the internal surface of plastic bags that were used to store beef chops at 1°C after vacuum packaging. The aim of the work was to evaluate the effect of the antimicrobial packaging on beef during storage. Volatile compounds and microbial populations were monitored after 0, 9, 20, 36, and 46 days of storage. The active packaging retarded the growth of lactic acid bacteria. Brochothrix thermosphacta was unable to grow for the whole storage time in treated samples, while the levels of Carnobacterium spp. in treated samples were below the detection limit for the first 9 days and reached loads below 5 Log CFU/cm(2) after 46 days. On the other hand, Enterobacteriaceae and Pseudomonas spp. were not affected by the use of the antimicrobial packaging and grew in all of the samples, with final populations of about 4 Log CFU/cm(2). Carnobacterium divergens was identified by PCR-denaturing gradient gel electrophoresis analysis of DNA extracted from beef after 36 days of storage. During beef storage, alcohols, aldehydes, ketones, and carboxylic acids were detected in the headspace of beef samples by solid-phase microextraction-gas chromatography-mass spectrometry analysis. The microbial metabolic activity was affected by the use of the antimicrobial film from the beginning up to 36 days with a maximum in the differences of volatile metabolites in samples analyzed at 20 days. The volatiles were also determined by electronic nose, allowing differentiation based on the time of storage and not on the type of packaging. The active packaging reduces the loads of spoilage microbial populations and the release of metabolites in the headspace of beef with a probable positive impact on meat quality. PMID:23317856

  8. Modulation of In Utero Total Body Irradiation Induced Newborn Mouse Growth Retardation by Maternal Manganese Superoxide Dismutase-Plasmid Liposome (MnSOD-PL) Gene Therapy

    PubMed Central

    Epperly, Michael W.; Smith, Tracy; Zhang, Xichen; Greenberger, Benjamin; Komanduri, Paavani; Wang, Hong; Greenberger, Joel S.

    2010-01-01

    To determine the effects of Manganese superoxide dismutase (MnSOD) plasmid liposome (PL) maternal radioprotection on fetal mice, timed pregnant female mice (E14 gestation) were irradiated to 3.0 Gy total body irradiation (TBI) dose, and the number, weight, and growth and development over 6 months after birth of newborn mice was quantitated compared to irradiated controls. Maternal MnSOD-PL treatment at E13 improved pup survival at birth (5.4 ± 0.9/litter compared to irradiated 3.0 Gy controls 4.9 ± 1.1. There was no statistically significant difference in newborn abnormalities, male to female ratio in newborn litters, or other evidence of teratogenesis in surviving newborn mice from MnSOD-PL treated compared to irradiated controls. However, E13 3Gy irradiated pups from gene therapy treated mothers showed a significant increase in both growth and overall survival over 6 months after birth (p = 0.0022). To determine if transgene product crossed the placenta pregnant E13 mice were injected I.V. with hemagglutinin-epitope-tagged MnSOD (100 μgm plasmid in 100 μl liposomes), then 24 hours later fetal mice, placentas, and maternal tissues were removed and tested by both immunohistochemistry and RTPCR for transgene and product. There was no evidence of transgene or product in placenta or any fetal tissue while maternal liver was positive by both assays. The data provide evidence for fetal radioprotection by maternal MnSOD-PL gene therapy before irradiation which is mediated by an indirect bystander effect and is associated with a significant improvement in both survival at birth and growth and development of newborn mice. PMID:21248791

  9. Modulation of in utero total body irradiation induced newborn mouse growth retardation by maternal manganese superoxide dismutase-plasmid liposome (MnSOD-PL) gene therapy.

    PubMed

    Epperly, M W; Smith, T; Zhang, X; Goff, J P; Franicola, D; Greenberger, B; Komanduri, P; Wang, H; Greenberger, J S

    2011-06-01

    To determine the effects of manganese superoxide dismutase (MnSOD) plasmid liposome (PL) maternal radioprotection on fetal mice, timed pregnant female mice (E14 gestation) were irradiated to 3.0 Gy total body irradiation (TBI) dose, and the number, weight and growth and development over 6 months after birth of newborn mice was quantitated compared with irradiated controls. Maternal MnSOD-PL treatment at E13 improved pup survival at birth (5.4±0.9 per litter) compared with non-irradiated 3.0 Gy controls 4.9±1.1. There was no statistically significant difference in newborn abnormalities, male to female ratio in newborn litters, or other evidence of teratogenesis in surviving newborn mice from MnSOD-PL treated compared with irradiated controls. However, E14 3 Gy irradiated pups from gene therapy-treated mothers showed a significant increase in both growth and overall survival over 6 months after birth (P=0.0022). To determine if transgene product crossed the placenta pregnant E13 mice were injected intravenously with hemagglutinin-epitope-tagged MnSOD (100 μg plasmid in 100 μl liposomes), then after 24 h, fetal mice, placentas and maternal tissues were removed and tested by both immunohistochemistry and reverse transcriptase-PCR for transgene and product. There was no evidence of transgene or product in placenta or any fetal tissue while maternal liver was positive by both assays. The data provide evidence for fetal radioprotection by maternal MnSOD-PL gene therapy before irradiation, which is mediated by an indirect bystander effect and is associated with a significant improvement in both survival at birth and growth and development of newborn mice. PMID:21248791

  10. Semen abnormalities with SSRI antidepressants.

    PubMed

    2015-01-01

    Despite decades of widespread use, the adverse effect profile of "selective" serotonin reuptake inhibitor (SSRI) antidepressants has still not been fully elucidated. Studies in male animals have shown delayed sexual development and reduced fertility. Three prospective cohort studies conducted in over one hundred patients exposed to an SSRI for periods ranging from 5 weeks to 24 months found altered semen param-eters after as little as 3 months of exposure: reduced sperm concentration, reduced sperm motility, a higher percentage of abnormal spermatozoa, and increased levels of sperm DNA fragmentation. One clinical trial showed growth retardation in children considered depressed who were exposed to SSRls. SSRls may have endocrine disrupting properties. Dapoxetine is a short-acting serotonin reuptake inhibitor that is chemically related to fluoxetine and marketed in the European Union for men complaining of premature ejaculation. But the corresponding European summary of product characteristics does not mention any effects on fertility. In practice, based on the data available as of mid-2014, the effects of SSRI exposure on male fertility are unclear. However, it is a risk that should be taken into account and pointed out to male patients who would like to father a child or who are experiencing fertility problems. PMID:25729824

  11. Complete Biallelic Insulation at the H19/Igf2 Imprinting Control Region Position Results in Fetal Growth Retardation and Perinatal Lethality

    PubMed Central

    Lee, Dong-Hoon; Singh, Purnima; Tsark, Walter M. K.; Szabó, Piroska E.

    2010-01-01

    Background The H19/Igf2 imprinting control region (ICR) functions as an insulator exclusively in the unmethylated maternal allele, where enhancer-blocking by CTCF protein prevents the interaction between the Igf2 promoter and the distant enhancers. DNA methylation inhibits CTCF binding in the paternal ICR allele. Two copies of the chicken β-globin insulator (ChβGI)2 are capable of substituting for the enhancer blocking function of the ICR. Insulation, however, now also occurs upon paternal inheritance, because unlike the H19 ICR, the (ChβGI)2 does not become methylated in fetal male germ cells. The (ChβGI)2 is a composite insulator, exhibiting enhancer blocking by CTCF and chromatin barrier functions by USF1 and VEZF1. We asked the question whether these barrier proteins protected the (ChβGI)2 sequences from methylation in the male germ line. Methodology/Principal Findings We genetically dissected the ChβGI in the mouse by deleting the binding sites USF1 and VEZF1. The methylation of the mutant versus normal (ChβGI)2 significantly increased from 11% to 32% in perinatal male germ cells, suggesting that the barrier proteins did have a role in protecting the (ChβGI)2 from methylation in the male germ line. Contrary to the H19 ICR, however, the mutant (mChβGI)2 lacked the potential to attain full de novo methylation in the germ line and to maintain methylation in the paternal allele in the soma, where it consequently functioned as a biallelic insulator. Unexpectedly, a stricter enhancer blocking was achieved by CTCF alone than by a combination of the CTCF, USF1 and VEZF1 sites, illustrated by undetectable Igf2 expression upon paternal transmission. Conclusions/Significance In this in vivo model, hypomethylation at the ICR position together with fetal growth retardation mimicked the human Silver-Russell syndrome. Importantly, late fetal/perinatal death occurred arguing that strict biallelic insulation at the H19/Igf2 ICR position is not tolerated in development

  12. Effects of ocean acidification driven by elevated CO2 on larval shell growth and abnormal rates of the venerid clam, Mactra veneriformis

    NASA Astrophysics Data System (ADS)

    Kim, Jee-Hoon; Yu, Ok Hwan; Yang, Eun Jin; Kang, Sung-Ho; Kim, Won; Choy, Eun Jung

    2016-03-01

    The venerid clam (Mactra veneriformis Reeve 1854) is one of the main cultured bivalve species in intertidal and shallow subtidal ecosystems along the west coast of Korea. To understand the effects of ocean acidification on the early life stages of Korean clams, we investigated shell growth and abnormality rates and types in the D-shaped, umbonate veliger, and pediveliger stages of the venerid clam M. veneriformis during exposure to elevated seawater pCO2. In particular, we examined abnormal types of larval shell morphology categorized as shell deformations, shell distortions, and shell fissures. Specimens were incubated in seawater equilibrated with bubbled CO2-enriched air at (400±25)×10-6 (ambient control), (800±25)×10-6 (high pCO2), or (1 200±28)×10-6 (extremely high pCO2), the atmospheric CO2 concentrations predicted for the years 2014, 2084, and 2154 (70-year intervals; two human generations), respectively, in the Representative Concentration Pathway (RCP) 8.5 scenario. The mean shell lengths of larvae were significantly decreased in the high and extremely high pCO2 groups compared with the ambient control groups. Furthermore, under high and extremely high pCO2 conditions, the cultures exhibited significantly increased abundances of abnormal larvae and increased severity of abnormalities compared with the ambient control. In the umbonate veliger stage of the experimental larvae, the most common abnormalities were shell deformations, distortions, and fissures; on the other hand, convex hinges and mantle protuberances were absent. These results suggest that elevated CO2 exerts an additional burden on the health of M. veneriformis larvae by impairing early development.

  13. Meiotic abnormalities

    SciTech Connect

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  14. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.

    PubMed

    Papoulidis, Ioannis; Paspaliaris, Vassilis; Papageorgiou, Elena; Siomou, Elissavet; Dagklis, Themistoklis; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

    2015-01-01

    A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested. PMID:25925190

  15. THE MENTALLY RETARDED.

    ERIC Educational Resources Information Center

    JORDAN, THOMAS E.

    THIS BOOK PROVIDES A GUIDE TO THE BASIC CONCEPTS AND ISSUES IN THE FIELD OF MENTAL RETARDATION. THERE ARE MANY SOURCES OR CAUSES OF MENTAL RETARDATION AND THE FOLLOWING TYPES ARE EXPLAINED--(1) GENETIC OR CHEMICAL DISORDERS, (2) BIRTH TRAUMA, (3) SUBSEQUENT ACCIDENTS OR DISEASE, AND (4) ENVIRONMENTAL INFLUENCES. IT IS NOTED THAT MOST CASES INVOLVE…

  16. Mental Retardation in Perspective.

    ERIC Educational Resources Information Center

    Horvath, Michael; And Others

    This monograph presents a general introduction to the history, classification, and characteristics of mental retardation. It begins with a discussion of the history of mental retardation from ancient Greece and Rome to the present. The beginnings of special education are traced to the early 19th century in Europe. Major influences in treatment of…

  17. Vignettes in Mental Retardation.

    ERIC Educational Resources Information Center

    Crissey, Marie Skodak

    1983-01-01

    The use of the family history chart and the "Binet-Simon Scale" to study mental retardation in the early 20th century are considered, along with the implications of this practice. With the thesis that mental retardation was primarily familial and hereditary, limiting reproduction and segregation were viewed as appropriate approaches. (SEW)

  18. Brominated Flame Retardants

    EPA Science Inventory

    Brominated flame retardants (BFRs) belong to a large class of compounds known as organohalogens. BFRs are currently the largest marketed flame retardant group due to their high performance efficiency and low cost. In the commercial market, more than 75 different BFRs are recogniz...

  19. Chemistry and toxicity of flame retardants for plastics.

    PubMed Central

    Liepins, R; Pearce, E M

    1976-01-01

    An overview of commercially used flame retardants is give. The most used flame retardants are illustrated and the seven major markets, which use 96% of all flame-retarded polymers, are described. Annual flame retardant growth rate for each major market is also projected. Toxicity data are reviewed on only those compositions that are considered commercially significant today. This includes 18 compounds or families of compounds and four inherently flame-retarded polymers. Toxicological studies of flame retardants for most synthetic materials are of recent origin and only a few of the compounds have been evaluated in any great detail. Considerable toxicological problems may exist in the manufacturing of some flame retardants, their by-products, and possible decomposition products. PMID:1026419

  20. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

    PubMed

    Popp, Susanne; Schulze, Birgit; Granzow, Martin; Keller, Monika; Holtgreve-Grez, Heidi; Schoell, Brigitte; Brough, Michaela; Hager, Hans-Dieter; Tariverdian, Gholamali; Brown, Jill; Kearney, Lyndal; Jauch, Anna

    2002-07-01

    Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis. PMID:12136233

  1. Consanguinity and mental retardation.

    PubMed

    Madhavan, T; Narayan, J

    1991-04-01

    Consanguinity among parents as a cause of mental retardation in their children is debatable. The present study was conducted to find out the effect of consanguinity on mental retardation where the causative factor is not established. A total of 517 mentally retarded persons and their families were studied out of which 160 were born of consanguineous marriage and 357 were of non-consanguineous marriage. The results indicated that, when there is a history of mental retardation in the family and if the parents are consanguineously married, the risk of mental retardation in the offspring is significantly high (chi 2 = 11.52; P less than 0.001). Among the consanguineously married families, the blood relationship of uncle-niece seems to have the highest risk of affecting the offsprings. The implications are discussed in detail. PMID:2072392

  2. Fire-Retardant, Decorative Inks

    NASA Technical Reports Server (NTRS)

    Kourtides, D.; Nir, Z.; Mikroyannidis, J.

    1987-01-01

    Effectiveness of fire-retardant additives evaluated. Fire retardance of decorative acrylic printing inks for aircraft interiors enhanced by certain commercial and experimental fire-retardant additives, according to study.

  3. Facile solvothermal synthesis of abnormal growth of one-dimensional ZnO nanostructures by ring-opening reaction of polyvinylpyrrolidone

    NASA Astrophysics Data System (ADS)

    Xu, G.; Wang, X. L.; Liu, G. Z.

    2015-02-01

    Abnormal growth of one-dimensional (1-D) ZnO nanostructures (NSs) have been accomplished with the assistance of polyvinylpyrrolidone (PVP) under a super high alkaline alcoholic solvothermal condition. The products were characterized by transmission electron microscopy (TEM), thermogravimetric analysis (TGA), X-ray diffraction (XRD), Fourier transform infrared (FT-IR) and proton nuclear magnetic resonance (1H NMR) spectroscopy. The effect of synthetic conditions, such as reaction temperature and the addition of PVP, on the morphologies of ZnO products were investigated. The results show that PVP molecules had the significant role in the transformation of morphologies of ZnO NSs ranging from nanorods, nanoparticles to pyramids, as well as flower-like assembly features. The possible growth mechanism of ZnO pyramids was proposed based on ring-opening reaction of PVP.

  4. Craniofacial Abnormalities

    MedlinePlus

    ... of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ... palate, are among the most common of all birth defects. Others are very rare. Most of them affect ...

  5. Walking abnormalities

    MedlinePlus

    ... include: Arthritis of the leg or foot joints Conversion disorder (a psychological disorder) Foot problems (such as a ... injuries. For an abnormal gait that occurs with conversion disorder, counseling and support from family members are strongly ...

  6. Chromosome Abnormalities

    MedlinePlus

    ... decade, newer techniques have been developed that allow scientists and doctors to screen for chromosomal abnormalities without using a microscope. These newer methods compare the patient's DNA to a normal DNA ...

  7. Nail abnormalities

    MedlinePlus

    Nail abnormalities are problems with the color, shape, texture, or thickness of the fingernails or toenails. ... Fungus or yeast cause changes in the color, texture, and shape of the nails. Bacterial infection may ...

  8. Oncoprotein HBXIP Modulates Abnormal Lipid Metabolism and Growth of Breast Cancer Cells by Activating the LXRs/SREBP-1c/FAS Signaling Cascade.

    PubMed

    Zhao, Yu; Li, Hang; Zhang, Yingyi; Li, Leilei; Fang, Runping; Li, Yinghui; Liu, Qian; Zhang, Weiying; Qiu, Liyan; Liu, Fabao; Zhang, Xiaodong; Ye, Lihong

    2016-08-15

    Abnormal lipid metabolism is a hallmark of tumorigenesis. Accumulating evidence demonstrates that fatty acid synthase (FAS, FASN) is a metabolic oncogene that supports the growth and survival of tumor cells and is highly expressed in many cancers. Here, we report that the oncoprotein, hepatitis B X-interacting protein (HBXIP, LAMTOR5) contributes to abnormal lipid metabolism. We show that high expression of HBXIP in 236 breast cancer patients was significantly associated with decreased overall survival and progression-free survival. Interestingly, the expression of HBXIP was positively related to that of FAS in clinical breast cancer tissues, and HBXIP overexpression in breast cancer cells resulted in FAS upregulation. Mechanistically, HBXIP upregulated SREBP-1c (SREBF1), which activates the transcription of FAS, by directly interacting with and coactivating nuclear receptor (NR) liver X receptors (LXR). Physiologically, LXRs are activated via a coactivator containing NR motif in a ligand-dependent manner. However, in breast cancer cells, HBXIP containing the corepressor/nuclear receptor motif with special flanking sequence could coactivate LXRs independent of ligand. Moreover, overexpressed SREBP-1c was able to activate the transcription of HBXIP, forming a positive-feedback loop. Functionally, HBXIP enhanced lipogenesis, resulting in the growth of breast cancer cells in vitro and in vivo Thus, we conclude that the oncoprotein HBXIP contributes to the abnormal lipid metabolism in breast cancer through LXRs/SREBP-1c/FAS signaling, providing new insights into the mechanisms by which cancer cells reprogram lipid metabolism in their favor. Cancer Res; 76(16); 4696-707. ©2016 AACR. PMID:26980761

  9. Abnormal crystal growth in CH3NH3PbI3-xClx using a multi-cycle solution coating process

    DOE PAGESBeta

    Dong, Qingfeng; Yuan, Yongbo; Shao, Yuchuan; Fang, Yanjun; Wang, Qi; Huang, Jinsong

    2015-06-23

    Recently, the efficiency of organolead trihalide perovskite solar cells has improved greatly because of improved material qualities with longer carrier diffusion lengths. Mixing chlorine in the precursor for mixed halide films has been reported to dramatically enhance the diffusion lengths of mixed halide perovskite films, mainly as a result of a much longer carrier recombination lifetime. Here we report that adding Cl containing precursor for mixed halide perovskite formation can induce the abnormal grain growth behavior that yields well-oriented grains accompanied by the appearance of some very large size grains. The abnormal grain growth becomes prominent only after multi-cycle coatingmore » of MAI : MACl blend precursor. The large grain size is found mainly to contribute to a longer carrier charge recombination lifetime, and thus increases the device efficiency to 18.9%, but without significantly impacting the carrier transport property. As a result, the strong correlation identified between material process and morphology provides guidelines for future material optimization and device efficiency enhancement.« less

  10. Spiritual and religious need of mentally retarded persons.

    PubMed

    Carder, M M

    1984-06-01

    Describes the special spiritual and religious needs of the mentally retarded, at the same time proclaiming the necessity of thinking of them firstly as persons. Gives specific illustrations of how the spiritual and religious needs of the mentally retarded may be met by peers, chaplains, and family members. Offers a personal testimony on how the mentally retarded can contribute to the growth and insight of the caregiver. PMID:10266989

  11. Cytogenetic analysis in a large series of children with non-syndromic mental retardation

    PubMed Central

    Bouhjar, Inesse Ben Abdallah; Gmidène, Abir; Mougou-Zrelli, Soumaya; Hannachi, Hanene; Soyah, Najla; Gadour, Naoufel; Harrabi, Imed; Elghezal, Hatem; Saad, Ali

    2012-01-01

    Mental retardation affects 1–3% of the population. To evaluate the implication of chromosomal abnormalities in the etiology of mental retardation, 1420 patients with non-syndromic mental retardation recruited at the department of cytogenetics of Farhat Hached hospital (Sousse, Tunisia) between January 2005 and December 2009, were analyzed using standard cytogenetic techniques. Age ranged between 3 and 18 years with a median of 8 years. Chromosomal abnormalities were detected in 7.8% of patients and an increased prevalence of chromosome anomalies was observed in patients when the mental retardation is associated with a severe degree of intellectual disability, facial dysmorphic features and/or congenital malformations or epilepsy.

  12. Chromosomal abnormalities associated with cyclopia and synophthalmia.

    PubMed Central

    Howard, R O

    1977-01-01

    At the present time, essentially all known facts concerning cyclopia are consistent with some chromosomal disease, including clinical features of the pregnancy (fetal wastage, prematurity, intrauterine growth retardation, maternal age factor, complications of pregnancy), the generalized developmental abnormalities, specific ocular dysgenesis, by the high incidence of chromosomal abnormality already demonstrated, and the possibility of error in those cases of cyclopia with normal chromosomes. Even if chromosomal aberrations represent only one group of several different etiologic factors leading to cyclopia, at the present time chromosomal errors would seem to be the most common cause of cyclopia now recognized. Further studies will establish or disprove a chromosomal error in those instances which are now considered to be the result of an environmental factor alone or those with apparent familial patterns of inheritance. This apparent diverse origin of cyclopia can be clarified if future cyclopic specimens are carefully investigated. The evaluation should include a careful gross and microscopic examination of all organs, including the eye, and chromosome banding studies of all organs, including the eye, and chromosome banding studies of at least two cyclopic tissues. Then the presence or absence of multiple causative factors can be better evaluated. Images FIGURE 2 A FIGURE 2 B FIGURE 1 A FIGURE 1 B FIGURE 1 C FIGURE 1 D FIGURE 1 E FIGURE 1 F FIGURE 3 A FIGURE 3 B FIGURE 4 A FIGURE 4 B FIGURE 4 C FIGURE 4 D FIGURE 5 FIGURE 6 FIGURE 7 A FIGURE 7 B PMID:418547

  13. Brain abnormalities in male children and adolescents with hemophilia: detection with MR imaging. The Hemophilia Growth and Development Study Group.

    PubMed

    Wilson, D A; Nelson, M D; Fenstermacher, M J; Bohan, T P; Hopper, K D; Tilton, A; Mitchell, W G; Contant, C F; Maeder, M A; Donfield, S M

    1992-11-01

    Cranial magnetic resonance (MR) imaging was performed in 124 male patients (aged 7-19 years), from 14 institutions, in whom a diagnosis of moderate to severe hemophilia was made. Blood tests in all subjects were negative for human immunodeficiency virus. Findings in MR studies were abnormal in 25 (20.2%) subjects. Six lesions in five subjects were classified as congenital. The most commonly identified congenital lesion was a posterior fossa collection of cerebrospinal fluid (five cases). Twenty-two subjects had acquired lesions that were probably related to the hemophilia or its treatment. The most commonly acquired lesions were single- or multifocal areas of high signal intensity within the white matter on T2-weighted images noted in 14 (11.3%) subjects. Two subjects had large focal areas of brain atrophy, and six had some degree of diffuse cerebral cortical atrophy. Three subjects (2.4%) had hemorrhagic lesions. To the authors' knowledge, the unexpected finding of small, focal, nonhemorrhagic white matter lesions has not previously been reported. PMID:1410372

  14. Annual Research Review: Growth connectomics – the organization and reorganization of brain networks during normal and abnormal development

    PubMed Central

    Vértes, Petra E; Bullmore, Edward T

    2015-01-01

    Background We first give a brief introduction to graph theoretical analysis and its application to the study of brain network topology or connectomics. Within this framework, we review the existing empirical data on developmental changes in brain network organization across a range of experimental modalities (including structural and functional MRI, diffusion tensor imaging, magnetoencephalography and electroencephalography in humans). Synthesis We discuss preliminary evidence and current hypotheses for how the emergence of network properties correlates with concomitant cognitive and behavioural changes associated with development. We highlight some of the technical and conceptual challenges to be addressed by future developments in this rapidly moving field. Given the parallels previously discovered between neural systems across species and over a range of spatial scales, we also review some recent advances in developmental network studies at the cellular scale. We highlight the opportunities presented by such studies and how they may complement neuroimaging in advancing our understanding of brain development. Finally, we note that many brain and mind disorders are thought to be neurodevelopmental in origin and that charting the trajectory of brain network changes associated with healthy development also sets the stage for understanding abnormal network development. Conclusions We therefore briefly review the clinical relevance of network metrics as potential diagnostic markers and some recent efforts in computational modelling of brain networks which might contribute to a more mechanistic understanding of neurodevelopmental disorders in future. PMID:25441756

  15. Preventing Mental Retardation

    PubMed Central

    Fotheringham, John B.

    1974-01-01

    Influences producing mental retardation can be divided into three categories: inherited factors, health problems and social-emotional influences. This article outlines steps which can be taken to reduce the first two categories, both pre and postnatally. PMID:20469133

  16. Fire retardant polyisocyanurate foam

    NASA Technical Reports Server (NTRS)

    Riccitiello, S. R.; Parker, J. A.

    1972-01-01

    Fire retardant properties of low density polymer foam are increased. Foam has pendant nitrile groups which form thermally-stable heterocyclic structures at temperature below degradation temperature of urethane linkages.

  17. Litter-Spinning Retarders

    NASA Technical Reports Server (NTRS)

    Wilson, John C.

    1995-01-01

    Aerodynamic plates stop litter from spinning during hoisting by helicopter. Features of proposed litter-spinning retarders include convenience of deployment and independence from ground restraint. Retarder plate(s) folded flat against bottom of litter during storage or while litter is loaded. Plate(s) held in storage position by latch that releases manually or automatically as litter is hoisted. Upon release, springs move plates into deployed position.

  18. Comparison of gene expression profiles and responses to zinc chloride among inter- and intraspecific hybrids with growth abnormalities in wheat and its relatives.

    PubMed

    Takamatsu, Kiyofumi; Iehisa, Julio C M; Nishijima, Ryo; Takumi, Shigeo

    2015-07-01

    Hybrid necrosis is a well-known reproductive isolation mechanism in plant species, and an autoimmune response is generally considered to trigger hybrid necrosis through epistatic interaction between disease resistance-related genes in hybrids. In common wheat, the complementary Ne1 and Ne2 genes control hybrid necrosis, defined as type I necrosis. Two other types of hybrid necrosis (type II and type III) have been observed in interspecific hybrids between tetraploid wheat and Aegilops tauschii. Another type of hybrid necrosis, defined here as type IV necrosis, has been reported in F1 hybrids between Triticum urartu and some accessions of Triticum monococcum ssp. aegilopoides. In types I, III and IV, cell death occurs gradually starting in older tissues, whereas type II necrosis symptoms occur only under low temperature. To compare comprehensive gene expression patterns of hybrids showing growth abnormalities, transcriptome analysis of type I and type IV necrosis was performed using a wheat 38k oligo-DNA microarray. Defense-related genes including many WRKY transcription factor genes were dramatically up-regulated in plants showing type I and type IV necrosis, similarly to other known hybrid abnormalities, suggesting an association with an autoimmune response. Reactive oxygen species generation and necrotic cell death were effectively inhibited by ZnCl2 treatment in types I, III and IV necrosis, suggesting a significant association of Ca(2+) influx in upstream signaling of necrotic cell death in wheat hybrid necrosis. PMID:26081164

  19. Nutrition and Mental Retardation. An Annotated Bibliography, 1964-1970.

    ERIC Educational Resources Information Center

    Springer, Ninfa Saturnino

    This annotated bibliography is primarily organized for nutritionists. It presents selected articles published from 1964 to the present. All aspects of nutrition in mental retardation are covered excepting inborn errors of metabolism. Sections are included on: (1) nutrition, birthweight, and mental retardation; (2) nutrition, growth, and mental…

  20. No asthma, no parasites is a rare type of leukemia: chronic myeloid neoplasm with eosinophilia and abnormality of platelet-derived growth factor receptor alpha.

    PubMed

    Santiago-Casiano, Mónica; Alemán, Jesse R; Matos-Fernández, Nelson A; Cáceres-Perkins, Wlliam; De La Paz, Maryknoll

    2012-01-01

    Chronic myeloid neoplasm with eosinophilia and abnormality of platelet-derived growth factor receptor alpha (PDGFRA), referred as chronic eosinophilic leukemia, is an extremely rare neoplasm where long-term prognosis is uncertain though a high grade of responsiveness to Imatinib has been reported. The mortality and morbidity associated with chronic eosinophilic leukemia is associated with the degree of tissue involvement, damage, or both at diagnosis. We discuss a case of a young male patient with past medical history of hypoglycemia that presented to the emergency room with a complaints of a sharp abdominal pain localized in the upper quadrants. Laboratories were remarkable for elevated white blood cells with eosinophils predominance, anemia and thrombocytopenia. Bone marrow biopsy dislocated a FIP1L1-PDGFRA fusion gene chronic eosinophilic leukemia. Physicians need to have a high index of suspicion of this rare entity since not all eosinophilias can be interpreted as asthma or parasitis infections. PMID:23156891

  1. Nail abnormalities

    MedlinePlus

    ... nails include systemic amyloidosis , malnutrition, vitamin deficiency, and lichen planus . Skin cancers near the nail and fingertip ... the nail bed. Chemotherapy medicines can affect nail growth. Normal aging affects the growth and development of ...

  2. Investigation of Abnormal Grain Growth in a Friction Stir Welded and Spin-Formed Al-Li Alloy 2195 Crew Module

    NASA Technical Reports Server (NTRS)

    Tayon, Wesley A.; Domack, Marcia S.; Hoffman, Eric K.; Hales, Stephen J.

    2013-01-01

    In order to improve manufacturing efficiency and reduce structural mass and costs in the production of launch vehicle structures, NASA is pursuing a wide-range of innovative, near-net shape manufacturing technologies. A technology that combines friction stir welding (FSW) and spin-forming has been applied to manufacture a single-piece crew module using Aluminum-Lithium (AL-Li) Alloy 2195. Plate size limitations for Al-Li alloy 2195 require that two plates be FSW together to produce a spin-forming blank of sufficient size to form the crew module. Subsequent forming of the FSW results in abnormal grain growth (AGG) within the weld region upon solution heat treatment (SHT), which detrimentally impacts strength, ductility, and fracture toughness. The current study seeks to identify microstructural factors that contribute to the development of AGG. Electron backscatter diffraction (EBSD) was used to correlate driving forces for AGG, such as stored energy, texture, and grain size distributions, with the propensity for AGG. Additionally, developmental annealing treatments prior to SHT are examined to reduce or eliminate the occurrence of AGG by promoting continuous, or uniform, grain growth

  3. Significance of abnormal serum binding of insulin-like growth factor II in the development of hypoglycemia in patients with non-islet-cell tumors.

    PubMed Central

    Daughaday, W H; Kapadia, M

    1989-01-01

    We reported that serum and tumor from a hypoglycemic patient with a fibrosarcoma contained insulin-like growth factor II (IGF-II), mostly in a large molecular form designated "big IGF-II." We now describe two additional patients with non-islet-cell tumor with hypoglycemia (NICTH) whose sera contained big IGF-II. Removal of the tumor eliminated most of the big IGF-II from the sera of two patients. Because specific IGF-binding proteins modify the bioactivity of IGFs, the sizes of the endogenous IGF-binding protein complexes were determined after neutral gel filtration through Saphadex G-200. Normally about 75% of IGFs are carried as a ternary complex of 150 kDa consisting of IGF, a growth hormone (GH)-dependent IGF-binding protein, and an acid-labile complexing component. The three patients with NICTH completely lacked the 150-kDa complex. IGF-II was present as a 60-kDa complex with variable contributions of smaller complexes. In the immediate postoperative period, a 110-kDa complex appeared rather than the expected 150-kDa complex. Abnormal IGF-II binding may be important in NICTH because the 150-kDa complexes cross the capillary membrane poorly. The smaller complexes present in our patients' sera would be expected to enter interstitial fluid readily, and a 4- to 5-fold increase in the fraction of IGFs reaching the target cells would result. PMID:2771956

  4. Significance of abnormal serum binding of insulin-like growth factor II in the development of hypoglycemia in patients with non-islet-cell tumors

    SciTech Connect

    Daughaday, W.H.; Kapadia, M. )

    1989-09-01

    The authors reported that serum and tumor from a hypoglycemic patient with a fibrosarcoma contained insulin-like growth factor II (IGF-II), mostly in a large molecular form designated big IGF-II. They now describe two additional patients with non-islet-cell tumor with hypoglycemia (NICTH) whose sera contained big IGF-II. Removal of the tumor eliminated most of the big IGF-II from the sera of two patients. Because specific IGF-binding proteins modify the bioactivity of IGFs, the sizes of the endogenous IGF-binding protein complexes were determined after neutral gel filtration through Sephadex G-200. Normally about 75% of IGFs are carried as a ternary complex of 150 kDa consisting of IGF, a growth hormone (GH)-dependent IGF-binding protein, and an acid-labile complexing component. The three patients with NICTH completely lacked the 150-kDa complex. IGF-II was present as a 60-kDa complex with variable contributions of smaller complexes. In the immediate postoperative period, a 110-kDa complex appeared rather than the expected 150-kDa complex. Abnormal IGF-II binding may be important in NICTH because the 150-kDa complexes cross the capillary membrane poorly. The smaller complexes present in our patients' sera would be expected to enter interstitial fluid readily, and a 4- to 5-fold increase in the fraction of IGFs reaching the target cells would result.

  5. Cerebellar microfolia and other abnormalities of neuronal growth, migration, and lamination in the Pit1dw-J homozygote mutant mouse

    NASA Technical Reports Server (NTRS)

    Sekiguchi, M.; Abe, H.; Moriya, M.; Tanaka, O.; Nowakowski, R. S.

    1998-01-01

    The Snell dwarf mouse (Pit1dw-J homozygote) has a mutation in the Pit1 gene that prevents the normal formation of the anterior pituitary. In neonates and adults there is almost complete absence of growth hormone (GH), prolactin (PRL), thyroxin (T4), and thyroid-stimulating hormone (TSH). Since these hormones have been suggested to play a role in normal development of the central nervous system (CNS), we have investigated the effects of the Pit1dw-J mutation on the cerebellum and hippocampal formation. In the cerebellum, there were abnormalities of both foliation and lamination. The major foliation anomalies were 1) changes in the relative size of specific folia and also the proportional sizes of the anterior vs posterior cerebellum; and 2) the presence of between one and three microfolia per half cerebellum. The microfolia were all in the medial portion of the hemisphere in the caudal part of the cerebellum. Each microfolium was just rostral to a normal fissure and interposed between the fissure and a normal gyrus. Lamination abnormalities included an increase in the number of single ectopic granule cells in the molecular layer in both cerebellar vermis (86%) and hemisphere (40%) in comparison with the wild-type mouse. In the hippocampus of the Pit1dw-J homozygote mouse, the number of pyramidal cells was decreased, although the width of the pyramidal cell layer throughout areas CA1-CA3 appeared to be normal, but less densely populated than in the wild-type mouse. Moreover, the number of granule cells that form the granule cell layer was decreased from the wild-type mouse and some ectopic granule cells (occurring both as single cells and as small clusters) were observed in the innermost portion of the molecular layer. The abnormalities observed in the Pit1dw-J homozygote mouse seem to be caused by both direct and indirect effects of the deficiency of TSH (or T4), PRL, or GH rather than by a direct effect of the deletion of Pit1.

  6. New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3

    SciTech Connect

    Wittwer, B.; Kircheisen, R.; Leutelt, J.; Gal, A.; Orth, U.; Gal, A.

    1996-07-12

    X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauterine growth retardation were noted. Common anomalies included a square-shaped face, high and broad forehead, frontal bossing, downward slant of palpebral fissures, hypertelorism, epicanthic folds, long philtrum, thin upper lip, and apparently low-set ears. One boy has bilateral microphthalmos and sclerocornea, and his cousin has atrophy of the optic nerve. All 3 patients are blind and have profound statomotor and mental retardation, seizures, and a grossly abnormal electroencephalographic pattern. Additional findings are short stature, delayed bone matuation, hydronephrosis, vesicorenal reflux, cryptorchidism, clinodactyly of the 5th fingers, and transverse palmar creases. The karyotype is normal (46,XY). Segregation analysis showed perfect coinheritance between the clinical phenotype and alleles at several loci in Xp22.3, whereas recombinants were identified with marker loci from Xp22.2-qter. Analysis of multiple informative meioses suggests that the disease locus maps in Xp22.3 distal to DXS16. 9 refs., 5 figs., 2 tabs.

  7. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

    PubMed

    Chang, Jiazhen; Zhao, Lijuan; Chen, Chen; Peng, Ying; Xia, Yan; Tang, Guizhi; Bai, Ting; Zhang, Yanghui; Ma, Ruiyu; Guo, Ruolan; Mei, Libin; Liang, Desheng; Cao, Qinying; Wu, Lingqian

    2015-09-10

    22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and with congenital defects. According to published reports, majority of patients with 22q11.2 duplications inherit these from unaffected parents rather than by de novo mutations, which is different from most microduplication/microdeletion syndromes. In this study, we report a patient that carried a paternally inherited atypical 1.33Mb duplication at 22q11.23. The proband (or proposita) presented with hypotonia, feeding difficulties, intractable epilepsy, hearing disability, and pachygyria. A pachygyria phenotype had not been previously reported to be associated with a 22q11 microduplication syndrome. Cytogenetic and molecular genetic analyses based on standard G-banding, SNP array, and fluorescence in situ hybridization were performed for the proband and her parents. An atypical 1.33Mb duplication at 22q11.23 was detected in both the proband and her father. Thus, our findings verify the pathogenicity and diverse phenotypes of 22q11.2 microduplication and expand its phenotypic spectrum. PMID:26099517

  8. Vignettes in Mental Retardation.

    ERIC Educational Resources Information Center

    Crissey, Marie Skodak

    1983-01-01

    Described are turn-of-the-century (1900) efforts of E. Johnstone, Vineland Training School for the mentally retarded; H. Goddard, psychologist (also at Vineland); and C. Davenport, Carnegie Foundation biological laboratory, Coldspring Harbor; to identify the roles of genetic heredity and environmental impact, and thus to eradicate or ameliorate…

  9. Epidemiology of Mental Retardation.

    ERIC Educational Resources Information Center

    Heber, Rick

    Prevalence data on mental retardation is presented including international estimates on general prevalence, age directions, geographical variations within the United States, racial and ethnic variations, economic class distributions, family variations, and population distribution in institutions. Statistics are also provided in areas of specific…

  10. Monkey Retardate Learning Analysis

    ERIC Educational Resources Information Center

    Chamove, A. S.; Molinaro, T. J.

    1978-01-01

    Seven rhesus monkeys reared on diets high in phenylalanine to induce phenylketonuria (PKU--a metabolic disorder associated with mental retardation if untreated) were compared with normal, pair-fed, and younger controls; frontal brain-lesioned monkeys; and those raised on high-tryptophan diets in three object discrimination tasks. (Author)

  11. Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.

    PubMed

    Kozma, C

    2001-01-15

    Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. Neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy. PMID:11223853

  12. si-RNA inhibition of brain insulin or insulin-like growth factor receptors causes developmental cerebellar abnormalities: relevance to fetal alcohol spectrum disorder

    PubMed Central

    2011-01-01

    Background In experimental models of fetal alcohol spectrum disorder (FASD), cerebellar hypoplasia and hypofoliation are associated with insulin and insulin-like growth factor (IGF) resistance with impaired signaling through pathways that mediate growth, survival, plasticity, metabolism, and neurotransmitter function. To more directly assess the roles of impaired insulin and IGF signaling during brain development, we administered intracerebroventricular (ICV) injections of si-RNA targeting the insulin receptor, (InR), IGF-1 receptor (IGF-1R), or IGF-2R into postnatal day 2 (P2) Long Evans rat pups and examined the sustained effects on cerebellar function, structure, and neurotransmitter-related gene expression (P20). Results Rotarod tests on P20 demonstrated significant impairments in motor function, and histological studies revealed pronounced cerebellar hypotrophy, hypoplasia, and hypofoliation in si-InR, si-IGF-1R, and si-IGF-2R treated rats. Quantitative RT-PCR analysis showed that si-InR, and to a lesser extent si-IGF-2R, broadly inhibited expression of insulin and IGF-2 polypeptides, and insulin, IGF-1, and IGF-2 receptors in the brain. ELISA studies showed that si-InR increased cerebellar levels of tau, phospho-tau and β-actin, and inhibited GAPDH. In addition, si-InR, si-IGF-1R, and si-IGF-2R inhibited expression of choline acetyltransferase, which mediates motor function. Although the ICV si-RNA treatments generally spared the neurotrophin and neurotrophin receptor expression, si-InR and si-IGF-1R inhibited NT3, while si-IGF-1R suppressed BDNF. Conclusions early postnatal inhibition of brain InR expression, and to lesser extents, IGF-R, causes structural and functional abnormalities that resemble effects of FASD. The findings suggest that major abnormalities in brains with FASD are mediated by impairments in insulin/IGF signaling. Potential therapeutic strategies to reduce the long-term impact of prenatal alcohol exposure may include treatment with agents

  13. Flame retardant spandex type polyurethanes

    NASA Technical Reports Server (NTRS)

    Howarth, J. T.; Sheth, S.; Sidman, K. R.; Massucco, A. A. (Inventor)

    1978-01-01

    Flame retardant elastomeric compositions were developed, comprised of: (1) spandex type polyurethane having incorporated into the polymer chain, halogen containing polyols; (2) conventional spandex type polyurethanes in physical admixture flame retardant additives; and (3) fluoroelastomeric resins in physical admixture with flame retardant additives. Methods of preparing fibers of the flame retardant elastomeric materials are presented and articles of manufacture comprised of the elastomeric materials are mentioned.

  14. Mental Retardation, Selected Conference Papers.

    ERIC Educational Resources Information Center

    Scheerenberger, R.C., Ed.

    A compilation of selected papers includes the following: comprehensive diagnostic services; pediatric aspects of diagnosis; psychological evaluation of the severely retarded; use of social competency devices; diagnosis of the adult retarded; programing for the severely retarded; nursery school experiences for the trainable; a practical approach to…

  15. Teaching the Educable Mentally Retarded.

    ERIC Educational Resources Information Center

    Love, Harold D.

    The text discusses the behavior, evaluation, and education of mentally retarded children. Harold D. Love presents an overview of the retarded, a description of intelligence and personality tests, and a historical survey of retardation; Virginia Cantrell reviews the educational philosophies and methods of Itard, Seguin, and Montessori. Shirley K.…

  16. Increased Lung Expression of Anti-Angiogenic Factors in Down Syndrome: Potential Role in Abnormal Lung Vascular Growth and the Risk for Pulmonary Hypertension

    PubMed Central

    Galambos, Csaba; Minic, Angela D.; Bush, Douglas; Nguyen, Dominique; Dodson, Blair; Seedorf, Gregory; Abman, Steven H.

    2016-01-01

    Background and Aims Infants with Down syndrome (DS) or Trisomy 21, are at high risk for developing pulmonary arterial hypertension (PAH), but mechanisms that increase susceptibility are poorly understood. Laboratory studies have shown that early disruption of angiogenesis during development impairs vascular and alveolar growth and causes PAH. Human chromosome 21 encodes known anti-angiogenic factors, including collagen18a1 (endostatin, ES), ß-amyloid peptide (BAP) and Down Syndrome Critical Region 1 (DSCR-1). Therefore, we hypothesized that fetal lungs from subjects with DS are characterized by early over-expression of anti-angiogenic factors and have abnormal lung vascular growth in utero. Methods Human fetal lung tissue from DS and non-DS subjects were obtained from a biorepository. Quantitative reverse transcriptase PCR (qRT-PCR) was performed to assay 84 angiogenesis-associated genes and individual qRT-PCR was performed for ES, amyloid protein precursor (APP) and DSCR1. Western blot analysis (WBA) was used to assay lung ES, APP and DSCR-1 protein contents. Lung vessel density and wall thickness were determined by morphometric analysis. Results The angiogenesis array identified up-regulation of three anti-angiogenic genes: COL18A1 (ES), COL4A3 (tumstatin) and TIMP3 (tissue inhibitor of metallopeptidase 3) in DS lungs. Single qRT-PCR and WBA showed striking elevations of ES and APP mRNA (p = 0.022 and p = 0.001) and protein (p = 0.040 and p = 0.002; respectively). Vessel density was reduced (p = 0.041) and vessel wall thickness was increased in DS lung tissue (p = 0.033) when compared to non-DS subjects. Conclusions We conclude that lung anti-angiogenic factors, including COL18A1 (ES), COL4A3, TIMP3 and APP are over-expressed and fetal lung vessel growth is decreased in subjects with DS. We speculate that increased fetal lung anti-angiogenic factor expression due to trisomy 21 impairs lung vascular growth and signaling, which impairs alveolarization and

  17. Overexpression of TSC-22 (transforming growth factor- β-stimulated clone-22) causes marked obesity, splenic abnormality and B cell lymphoma in transgenic mice.

    PubMed

    Uchida, Daisuke; Kawamata, Hitoshi; Omotehara, Fumie; Miwa, Yoshihiro; Horiuchi, Hideki; Furihata, Tadashi; Tachibana, Masatsugu; Fujimori, Takahiro

    2016-03-22

    In this study, we generated transgenic (Tg) mice, which overexpressed transforming growth factor (TGF)-β stimulated clone-22 (TSC-22), and investigate the functional role of TSC-22 on their development and pathogenesis. We obtained 13 Tg-founders (two mice from C57BL6/J and 11 mice from BDF1). Three of 13 Tg-founders were sterile, and the remaining Tg-founders also could generate only a limited number of the F1 generation. We obtained 32 Tg-F1 mice. Most of the Tg-mice showed marked obesity. Histopathological examination could be performed on 31 Tg-mice; seventeen mice died by some disease in their entire life and 14 mice were killed for examination. Most of the Tg-mice examined showed splenic abnormality, in which marked increase of the megakaryocytes, unclearness of the margin of the red pulp and the white pulp, and the enlargement of the white pulp was observed. B cell lymphoma was developed in 10 (71%) of 14 disease-died F1 mice. These results indicate that constitutive over-expression of TSC-22 might disturb the normal embryogenesis and the normal lipid metabolism, and induce the oncogenic differentiation of hematopoietic cells. PMID:26872059

  18. Overexpression of TSC-22 (transforming growth factor-β-stimulated clone-22) causes marked obesity, splenic abnormality and B cell lymphoma in transgenic mice

    PubMed Central

    Miwa, Yoshihiro; Horiuchi, Hideki; Furihata, Tadashi; Tachibana, Masatsugu; Fujimori, Takahiro

    2016-01-01

    In this study, we generated transgenic (Tg) mice, which overexpressed transforming growth factor (TGF)-β stimulated clone-22 (TSC-22), and investigate the functional role of TSC-22 on their development and pathogenesis. We obtained 13 Tg-founders (two mice from C57BL6/J and 11 mice from BDF1). Three of 13 Tg-founders were sterile, and the remaining Tg-founders also could generate only a limited number of the F1 generation. We obtained 32 Tg-F1 mice. Most of the Tg-mice showed marked obesity. Histopathological examination could be performed on 31 Tg-mice; seventeen mice died by some disease in their entire life and 14 mice were killed for examination. Most of the Tg-mice examined showed splenic abnormality, in which marked increase of the megakaryocytes, unclearness of the margin of the red pulp and the white pulp, and the enlargement of the white pulp was observed. B cell lymphoma was developed in 10 (71%) of 14 disease-died F1 mice. These results indicate that constitutive over-expression of TSC-22 might disturb the normal embryogenesis and the normal lipid metabolism, and induce the oncogenic differentiation of hematopoietic cells. PMID:26872059

  19. Netherton syndrome associated with growth hormone deficiency.

    PubMed

    Aydın, Banu Küçükemre; Baş, Firdevs; Tamay, Zeynep; Kılıç, Gürkan; Süleyman, Ayşe; Bundak, Rüveyde; Saka, Nurçin; Özkaya, Esen; Güler, Nermin; Darendeliler, Feyza

    2014-01-01

    Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy. PMID:24015757

  20. Fire and smoke retardants

    NASA Astrophysics Data System (ADS)

    Drews, M. J.

    Despite a reduction in Federal regulatory activity, research concerned with flame retardancy and smoke suppression in the private sector appears to be increasing. This trend seem related to the increased utilization of plastics for end uses which traditionally have employed metal or wood products. As a result, new markets have appeared for thermally stable and fire resistance thermoplastic materials, and this in turn has spurred research and development activity. In addition, public awareness of the dangers associated with fire has increased as a result of several highly publicized hotel and restaurant fires within the past two years. The consumers recognition of flammability characteristics as important materials property considerations has increased. The current status of fire and smoke retardant chemistry and research are summarized.

  1. Flame Retardant Epoxy Resins

    NASA Technical Reports Server (NTRS)

    Thompson, C. M.; Smith, J. G., Jr.; Connell, J. W.; Hergenrother, P. M.; Lyon, R. E.

    2004-01-01

    As part of a program to develop fire resistant exterior composite structures for future subsonic commercial aircraft, flame retardant epoxy resins are under investigation. Epoxies and their curing agents (aromatic diamines) containing phosphorus were synthesized and used to prepare epoxy formulations. Phosphorus was incorporated within the backbone of the epoxy resin and not used as an additive. The resulting cured epoxies were characterized by thermogravimetric analysis, propane torch test, elemental analysis and microscale combustion calorimetry. Several formulations showed excellent flame retardation with phosphorous contents as low as 1.5% by weight. The fracture toughness of plaques of several cured formulations was determined on single-edge notched bend specimens. The chemistry and properties of these new epoxy formulations are discussed.

  2. Polysome arrest restricts miRNA turnover by preventing exosomal export of miRNA in growth-retarded mammalian cells

    PubMed Central

    Ghosh, Souvik; Bose, Mainak; Ray, Anirban; Bhattacharyya, Suvendra N.

    2015-01-01

    MicroRNAs (miRNAs) are tiny posttranscriptional regulators of gene expression in metazoan cells, where activity and abundance of miRNAs are tightly controlled. Regulated turnover of these regulatory RNAs is important to optimize cellular response to external stimuli. We report that the stability of mature miRNAs increases inversely with cell proliferation, and the increased number of microribonucleoproteins (miRNPs) in growth-restricted mammalian cells are in turn associated with polysomes. This heightened association of miRNA with polysomes also elicits reduced degradation of target mRNAs and impaired extracellular export of miRNA via exosomes. Overall polysome sequestration contributes to an increase of cellular miRNA levels but without an increase in miRNA activity. Therefore miRNA activity and turnover can be controlled by subcellular distribution of miRNPs that may get differentially regulated as a function of cell growth in mammalian cells. PMID:25609084

  3. Newborn length predicts early infant linear growth retardation and disproportionately high weight gain in a low-income population1-2

    PubMed Central

    Berngard, S Clark; Berngard, Jennifer Bishop; Krebs, Nancy F; Garcés, Ana; Miller, Leland V; Westcott, Jamie; Wright, Linda L; Kindem, Mark; Hambidge, K Michael

    2013-01-01

    Background Stunting is prevalent by the age of 6 mo in the indigenous population of the Western Highlands of Guatemala. Aim The objective of this study was to determine the time course and predictors of linear growth failure and weight-for-age in early infancy. Study Design and Subjects One hundred and forty eight term newborns had measurements of length and weight in their homes, repeated at 3 and 6 mo. Maternal measurements were also obtained. Results Mean ± SD length-for-age Z-score (LAZ) declined from newborn -1.0 (1.01) to -2.20 (1.05) and -2.26 (1.01) at 3 and 6 mo respectively. Stunting rates for newborn, 3 and 6 mo were 47%, 53% and 56% respectively. A multiple regression model (R2 = 0.64) demonstrated that the major predictor of LAZ at 3 mo was newborn LAZ with the other predictors being newborn weight-for-age Z-score (WAZ), gender and maternal education*maternal age interaction. Because WAZ remained essentially constant and LAZ declined during the same period, weight-for-length Z-score (WLZ) increased from -0.44 to +1.28 from birth to 3 mo. The more severe the linear growth failure, the greater WAZ was in proportion to the LAZ. Conclusion The primary conclusion is that impaired fetal linear growth is the major predictor of early infant linear growth failure indicating that prevention needs to start with maternal interventions. PMID:24083893

  4. Environmentally Relevant Concentrations of the Flame Retardant Tris(1,3-dichloro-2-propyl) Phosphate Inhibit Growth of Female Zebrafish and Decrease Fecundity.

    PubMed

    Zhu, Ya; Ma, Xufa; Su, Guanyong; Yu, Liqin; Letcher, Robert J; Hou, Jie; Yu, Hongxia; Giesy, John P; Liu, Chunsheng

    2015-12-15

    Bioconcentrations of tris(1,3-dichloro-2-propyl) phosphate (TDCIPP) in brain, gonad, and liver as well as effects on fecundity and development of zebrafish (Danio rerio) were determined. Zebrafish (1-month old) were exposed to environmentally relevant concentrations of 29 ± 2.1, 600 ± 21, or 6300 ± 130 ng TDCIPP/L. After 120 days of exposure, TDCIPP accumulated in the brain, gonad, and liver with bioconcentration factors of 460, 38, and 87 in females and 26, 55, and 110 in males, respectively. TDCIPP accumulated to a greater extent in brains of females than those of males. Exposure to 6300 ± 130 ng TDCIPP/L resulted in significantly (P < 0.05) fewer eggs being produced, but the histology of the gonad, plasma concentrations of estradiol and 11-ketotestosterone, and expression of genes involved in hypothalamic-pituitary-gonadal-liver axis were not significantly (P > 0.05) different between individuals exposed to TDCIPP and the unexposed control fish. Exposure to TDCIPP resulted in shorter body length, lighter body mass, and lower gonadal-somatic index in females. These effects were possibly due to down-regulation of expression of genes along the growth hormone/insulin-like growth factor (GH/IGF) axis. Correlations between the production of eggs and developmental parameters or expression of genes along the GH/IGF axis further suggested that environmentally relevant concentrations of TDCIPP could have adverse effects on reproduction, possibly due to the inhibition of the growth of females. PMID:26512412

  5. SRC promotes survival and invasion of lung cancers with epidermal growth factor receptor abnormalities and is a potential candidate for molecular-targeted therapy.

    PubMed

    Leung, Elaine Lai-Han; Tam, Issan Yee-San; Tin, Vicky Pui-Chi; Chua, Daniel Tsin-Tien; Sihoe, Alan Dart-Loon; Cheng, Lik-Cheung; Ho, James Chung-Man; Chung, Lap-Ping; Wong, Maria Pik

    2009-06-01

    Molecular-targeted therapy using tyrosine kinase inhibitors against epidermal growth factor receptor (EGFR) is an effective therapy for non-small cell lung cancer that harbor EGFR mutations. This study aimed to investigate the role of Src, a close EGFR associator, as a drug target in NSCLC cells with different EGFR genomic statuses. Src inhibition was achieved using 4-(4'-Phenoxyanilino)-6,7-dimethoxyquinazolinee (SKI-1) and the specificity of action was verified by RNA interference. The results showed that SKI-1 induced significant apoptosis in a dose-dependent manner in cancer cells with high basal Src activation. Activation of FAK and p130Cas was involved in Src-mediated invasion in SKI-1-sensitive cells. SKI-1 inhibited phosphorylation of EGFR as well as EGFR downstream effectors, such as signal transducers and activators of transcription 3/5, extracellular signal-regulated kinase 1/2 and AKT in the mutant cells but not the wild-type cells. This inhibition profile of EGFR implicates that induction of apoptosis and sensitivity of mutant cells to SKI treatment is mediated by EGFR and EGFR downstream pathways. Cotreatment with SKI-1 and gefitinib enhanced apoptosis in cancer cells that contained EGFR mutation and/or amplification. SKI-1 treatment alone induced significant apoptosis in H1975 cells known to be resistant to gefitinib. Src phosphorylation was shown by immunohistochemistry in around 30% of primary lung carcinomas. In 152 adenocarcinomas studied, p-Src was associated with EGFR mutations (P = 0.029). Overall, the findings indicated that Src could be a useful target for treatment of non-small cell lung cancer. Besides EGFR genomic mutations, other forms of EGFR and related family member abnormalities such as EGFR amplification might enhance SKI sensitivity. PMID:19491201

  6. DNT cell inhibits the growth of pancreatic carcinoma via abnormal expressions of NKG2D and MICA in vivo.

    PubMed

    Xu, Hong; Zhu, Xing-Xing; Chen, Jiong

    2016-01-01

    This research aimed to investigate the effects of natural killer group 2 member D (NKG2D) and its ligands major histocompatibility complex class I chain-related molecules A(MICA) in DNT cell killing pancreatic carcinoma. Antibodies adsorption was used to separate DNT cell from human peripheral blood. Human pancreatic tumor models were established via implanting BXPC-3 cells into nude mice. Then randomly divided mice into blank group, gemcitabine group and DNT group. Mice weights and mice tumor volumes were measured every 5 days. 50 days later mice were euthanized at cervical dislocation method. Tumor weights were measured. Relative tumor volume and tumor inhibition rate were calculated. Western blot and qPCR were used to detect the expressions of NKG2D and MICA in the transplanted tumors of the three groups. DNT cell significantly increased over time. The blank group tumor volume and weight were significantly larger than the other groups (p < 0.001, p < 0.001), but there were no significantly difference between DNT group and gemcitabine group (p > 0.05). Gemcitabine and DNT cell tumor inhibition rate were 40.4% and 35.5%. Western blot and qPCR showed that MICA mRNA and protein levels in blank group were significantly higher than DNT group (p = 0.001, p = 0.003). NKG2D mRNA and protein levels in blank group were significantly lower than DNT cells group (p < 0.001, p = 0.001). In conclusion DNT cell can significantly inhibit the growth of pancreatic carcinoma in vivo, and the mechanism may be involved in abnormal expressions of MICA and NKG2D. PMID:26616050

  7. Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

    ERIC Educational Resources Information Center

    Moretti, Paolo; Peters, Sarika U.; del Gaudio, Daniela; Sahoo, Trilochan; Hyland, Keith; Bottiglieri, Teodoro; Hopkin, Robert J.; Peach, Elizabeth; Min, Sang Hee; Goldman, David; Roa, Benjamin; Bacino, Carlos A.; Scaglia, Fernando

    2008-01-01

    We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects…

  8. Disturbances in Maternal Steroidogenesis and Appearance of Intrauterine Growth Retardation at High-Altitude Environments Are Established from Early Pregnancy. Effects of Treatment with Antioxidant Vitamins

    PubMed Central

    Parraguez, Victor H.; Mamani, Sandra; Cofré, Eileen; Castellaro, Giorgio; Urquieta, Bessie; De los Reyes, Mónica; Astiz, Susana; Gonzalez-Bulnes, Antonio

    2015-01-01

    Pregnancies at high-altitudes are influenced by hypoxia and oxidative stress and frequently affected by IUGR. However, a common thought is that early pregnant women visiting altitude have no major complications for gestation development, since IUGR is developed during the second half of pregnancy. Thus, using a well-characterized sheep-model, we aimed to determine whether long- and/or short-term exposure to high-altitude may affect maternal steroidogenesis and therefore embryo-fetal growth from conception. The second aim was to differentiate the relative role of hypoxia and oxidative stress by assessing the effects of supplementation with antioxidant agents during this early-pregnancy stage, which were previously found to be useful to prevent IUGR. The results indicate that both long- and short-term exposure to high-altitude causes disturbances in maternal ovarian steroidogenesis and negatively affects embryo-fetal growth already during the very early stages of gestation, with the consequences being even worsened in newcomers to high-altitude. The supply of antioxidant during this period only showed discrete effects for preventing IUGR. In conclusion, the present study gives a warning for clinicians about the risks for early-pregnant women when visiting high-altitude regions and suggests the need for further studies on the effects of the length of exposure and on the interaction of the exposure with the pregnancy stage. PMID:26560325

  9. Disturbances in Maternal Steroidogenesis and Appearance of Intrauterine Growth Retardation at High-Altitude Environments Are Established from Early Pregnancy. Effects of Treatment with Antioxidant Vitamins.

    PubMed

    Parraguez, Victor H; Mamani, Sandra; Cofré, Eileen; Castellaro, Giorgio; Urquieta, Bessie; De Los Reyes, Mónica; Astiz, Susana; Gonzalez-Bulnes, Antonio

    2015-01-01

    Pregnancies at high-altitudes are influenced by hypoxia and oxidative stress and frequently affected by IUGR. However, a common thought is that early pregnant women visiting altitude have no major complications for gestation development, since IUGR is developed during the second half of pregnancy. Thus, using a well-characterized sheep-model, we aimed to determine whether long- and/or short-term exposure to high-altitude may affect maternal steroidogenesis and therefore embryo-fetal growth from conception. The second aim was to differentiate the relative role of hypoxia and oxidative stress by assessing the effects of supplementation with antioxidant agents during this early-pregnancy stage, which were previously found to be useful to prevent IUGR. The results indicate that both long- and short-term exposure to high-altitude causes disturbances in maternal ovarian steroidogenesis and negatively affects embryo-fetal growth already during the very early stages of gestation, with the consequences being even worsened in newcomers to high-altitude. The supply of antioxidant during this period only showed discrete effects for preventing IUGR. In conclusion, the present study gives a warning for clinicians about the risks for early-pregnant women when visiting high-altitude regions and suggests the need for further studies on the effects of the length of exposure and on the interaction of the exposure with the pregnancy stage. PMID:26560325

  10. [The evaluation of the hearing function in the premature infants with intrauterine growth retardation during the third and sixth months of life by recording auditory steady-state response].

    PubMed

    Rakhmanova, I V; D'yakonova, I N; Sichinava, L G; Ledovskikh, Yu A

    2015-01-01

    The objective of the present work was to study the function of the retrocochlear auditory pathway in the premature infants with intrauterine growth retardation (IGR) in comparison to that of the normotrophics of a similar gestational age during the third and sixth months of life by recording auditory steady-state responses (ASSR). The audiological examination by the method of auditory steady-state response (ASSR) involved 127 children at the 3d month of life and in 97 children at the 6th month of life. It was shown that the ASSR thresholds at certain frequencies during the 3d and 6th months of life of the children born after the 32d week of pregnancy were significantly higher than in the children born after 32 weeks gestation. The comparison of the two objective audiological methods, viz. distortion-product otoacoustic emission (DPOAE) and ASSR, indicates that both should be used to evaluate the hearing function during the third and sixth months of life to compensate for the discrepancy between the results obtained by either technique. PMID:26978745

  11. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

    PubMed Central

    Parvari, R; Hershkovitz, E; Kanis, A; Gorodischer, R; Shalitin, S; Sheffield, V C; Carmi, R

    1998-01-01

    The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals being consanguineous, it is presumed to be caused by homozygous inheritance of a single recessive mutation from a common ancestor. To localize the HRD gene, we performed a genomewide screen using DNA pooling and homozygosity mapping for apparently unlinked kindreds. Analysis of a panel of 359 highly polymorphic markers revealed linkage to D1S235. The maximum LOD score obtained was 4.11 at a recombination fraction of 0. Analysis of three additional markers-GGAA6F06, D1S2678, and D1S179-in a 2-cM interval around D1S235 resulted in LOD scores >3. Analysis of additional chromosome 1 markers revealed evidence of genetic linkage disequilibrium and place the HRD locus within an approximately 1-cM interval defined by D1S1540 and D1S2678 on chromosome 1q42-43. PMID:9634513

  12. Effects of the bioaccumulative polybrominated diphenyl ether flame retardant congener BDE-47 on growth, development, and reproductive success in zebra finches.

    PubMed

    Currier, Heidi A; Letcher, Robert J; Williams, Tony D; Elliott, John E

    2015-02-01

    This study investigated the effects of the polybrominated diphenyl ether congener, 2,2',4,4'-tetrabromodiphenyl ether (BDE-47) on the growth and development, and subsequent breeding success of exposed zebra finches (Taeniopygia guttata). Using oral dosing procedures and treatments adjusted by weight, we treated newly hatched chicks daily for the first 20-days-post-hatch (dph) with varying treatments of BDE-47 (0, 5, 50, and 500 ng/g bw/day). Weight and tarsal measurements were monitored from hatch to 90 dph, but no differences were observed between treatment groups at any age. Treated females that reached sexual maturity were mated with untreated males; however, again no treatment effects were observed on breeding success. Analysis of tissue samples at 21 dph did indicate that debromination of BDE-47 had occurred resulting in BDE-28 and BDE-17 metabolites. PMID:25283367

  13. Growth Retardation, Loss of Desmosomal Adhesion, and Impaired Tight Junction Function Identify a Unique Role of Plakophilin 1 In Vivo.

    PubMed

    Rietscher, Katrin; Wolf, Annika; Hause, Gerd; Rother, Annekatrin; Keil, René; Magin, Thomas M; Glass, Markus; Niessen, Carien M; Hatzfeld, Mechthild

    2016-07-01

    Desmosomes mediate strong intercellular adhesion through desmosomal cadherins that interact with intracellular linker proteins including plakophilins (PKPs) 1-3 to anchor the intermediate filaments. PKPs show overlapping but distinct expression patterns in the epidermis. So far, the contribution of individual PKPs in differentially regulating desmosome function is incompletely understood. To resolve the role of PKP1 we ablated the PKP1 gene. Here, we report that PKP1(-/-) mice were born at the expected mendelian ratio with reduced birth weight, but they otherwise appeared normal immediately after birth. However, their condition rapidly declined, and the mice died within 24 hours, developing fragile skin with lesions in the absence of obvious mechanical trauma. This was accompanied by sparse and small desmosomes. Newborn PKP1(-/-) mice showed disturbed tight junctions with an impaired inside-out barrier, whereas the outside-in barrier was unaffected. Keratinocytes isolated from these mice showed strongly reduced intercellular cohesion, delayed tight junction formation, and reduced transepithelial resistance and reduced proliferation rates. Our study shows a nonredundant and essential role of PKP1 in desmosome and tight junction function and supports a role of PKP1 in growth control, a function that is crucial in wound healing and epidermal carcinogenesis. PMID:27033150

  14. Maturational Rate of Tokyo Children with and without Mental Retardation.

    ERIC Educational Resources Information Center

    Lindgren, Gunilla W.; Katoda, Hiroshi

    1993-01-01

    Comparison of growth rates and menarcheal age for groups of boys and girls, ages 6 to 15, in Tokyo (Japan) found that children with mental retardation had a smaller growth spurt during puberty but did not differ in maturational rate defined by age at pubertal height spurt or age at menarche. (Author/DB)

  15. MCT8 Deficiency in Male Mice Mitigates the Phenotypic Abnormalities Associated With the Absence of a Functional Type 3 Deiodinase.

    PubMed

    Stohn, J Patrizia; Martinez, M Elena; Matoin, Kassey; Morte, Beatriz; Bernal, Juan; Galton, Valerie Anne; St Germain, Donald; Hernandez, Arturo

    2016-08-01

    Mice deficient in the type 3 deiodinase (D3KO mice) manifest impaired clearance of thyroid hormone (TH), leading to elevated levels of TH action during development. This alteration causes reduced neonatal viability, growth retardation, and central hypothyroidism. Here we examined how these phenotypes are affected by a deficiency in the monocarboxylate transporter 8 (MCT8), which is a major contributor to the transport of the active thyroid hormone, T3, into the cell. MCT8 deficiency eliminated the neonatal lethality of type 3 deiodinase (D3)-deficient mice and significantly ameliorated their growth retardation. Double-mutant newborn mice exhibited similar peripheral thyrotoxicosis and increased brain expression of T3-dependent genes as mice with D3 deficiency only. Later in neonatal life and adulthood, double-mutant mice manifested central and peripheral TH status similar to mice with single MCT8 deficiency, with low serum T4, elevated serum TSH and T3, and decreased T3-dependent gene expression in the hypothalamus. In double-mutant adult mice, both thyroid gland size and the hypothyroidism-induced rise in TSH were greater than those in mice with single D3 deficiency but less than those in mice with MCT8 deficiency alone. Our results demonstrate that the marked phenotypic abnormalities observed in the D3-deficient mouse, including perinatal mortality, growth retardation, and central hypothyroidism in adult animals, require expression of MCT8, confirming the interdependent relationship between the TH transport into cells and the deiodination processes. PMID:27254003

  16. [A case of Aicardi syndrome with moderate psychomotor retardation].

    PubMed

    Abe, K; Mitsudome, A; Ogata, H; Ohfu, M; Takakusaki, M

    1990-07-01

    A five-year-old girl of Aicardi syndrome showed moderate psychomotor retardation. She could walk and communicate. At six months of age, she developed salaam convulsion with series. Convulsions disappeared immediately after ACTH treatment. At eighteen months of age, she developed myoclonic seizures. From three years of age, head-nodding seizures with series relapsed and could not be controlled. But she could walk alone at two years old and speak a word at one and half years old. A degree of her psychomotor retardation was more slightly than others published cases of Aicardi syndrome. There were eleven reports, included our case, with mild retardation in Aicardi syndrome. The features of these are 1) late onset of seizures, 2) good response to ACTH therapy, 3) no significant abnormalities of brain except for agenesis of corpus callosum. PMID:2169275

  17. Educable Mentally Retarded, Level I.

    ERIC Educational Resources Information Center

    Suo, Minnie Alice; Willemin, Helen

    Intended for teachers of special classes of educable mentally retarded children aged 6 to 8 (mental age = 3.5 to 4.9), the guide stresses skills necessary to the development of physical, personal and social, and vocational competency. An introduction defines philosophy and goals, outlines the educable mentally retarded program and the readiness…

  18. China's Approach to Mental Retardation.

    ERIC Educational Resources Information Center

    Hittman, Stephan

    History, tradition, culture, and superstition have played significant roles in influencing Chinese attitudes toward the mentally retarded. China's overwhelmingly rural, agricultural society has made it dependent upon a huge force of semi-skilled and unskilled labor, to which the retarded are capable of contribution. The stress on self-reliance,…

  19. The Mentally Retarded in Sweden.

    ERIC Educational Resources Information Center

    Grunewald, Karl

    Described are residential and educational services provided for mentally retarded (MC) children and adults in Sweden. Normalization is the focus of the services which make maximum use of mental and physical capacities to reduce the handicap of mental retardation. Described are general principles, and four stages involving development of services…

  20. Flame retarded asphalt blend composition

    SciTech Connect

    Walters, R.B.

    1987-04-21

    This patent describes a flame retarded asphalt composition consisting essentially of a blend of: (a) thermoplastic elastomer modified bitumen; (b) 20-30 wt % inert filler; (c) 1-20 wt % of at least one halogenated flame retardant; and (d) 1-5 wt % of at least one inorganic phosphorus containing compound selected from the group consisting of ammonium phosphate compounds and red phosphorus.

  1. THE PATHOLOGY OF MENTAL RETARDATION.

    ERIC Educational Resources Information Center

    CROME, L.; STERN, J.

    DATA FROM RECENT COMPREHENSIVE STUDIES OF THE PATHOLOGY OF MENTAL RETARDATION ARE ASSEMBLED, INCLUDING MATERIAL ON ETIOLOGY, MORPHOLOGY, BIOCHEMISTRY, AND LABORATORY DIAGNOSIS. AREAS COVERED ARE (1) GENETIC CAUSES OF MENTAL RETARDATION, (2) DISORDERS OF GESTATION, (3) BIRTH INJURY, (4) GENERAL CONSIDERATIONS OF POSTNATAL CAUSES OF MENTAL…

  2. Abnormal neurodevelopment, neurosignaling and behaviour in Npas3-deficient mice.

    PubMed

    Brunskill, Eric W; Ehrman, Lisa A; Williams, Michael T; Klanke, Justin; Hammer, Daniel; Schaefer, Tori L; Sah, Renu; Dorn, Gerald W; Potter, S Steven; Vorhees, Charles V

    2005-09-01

    Npas3 is a member of the bHLH-PAS superfamily of transcription factors that is expressed broadly in the developing neuroepithelium. To study the function of this gene, mice deficient in Npas3 were generated and characterized. Npas3-/- mice were growth-retarded and exhibited developmental brain abnormalities that included a reduction in size of the anterior hippocampus, hypoplasia of the corpus callosum and enlargement of the ventricles. A number of behavioural abnormalities were identified in Npas3-/- mice including locomotor hyperactivity, subtle gait defects, impairment of prepulse inhibition of acoustic startle, deficit in recognition memory and altered anxiety-related responses. Characterization of neurosignaling pathways using several pharmacological agents revealed dysfunctional glutamate, dopamine and serotonin neurotransmitter signaling. Consistent with these findings, we identified a significant alteration in cortical PSD-95 expression, a PDZ-containing protein that has been shown to be involved in postsynaptic signal transduction. Together, our observations indicate an important role for Npas3 in controlling normal brain development and neurosignaling pathways. PMID:16190882

  3. Inactivation of the clpC1 gene encoding a chloroplast Hsp100 molecular chaperone causes growth retardation, leaf chlorosis, lower photosynthetic activity, and a specific reduction in photosystem content.

    PubMed

    Sjögren, Lars L E; MacDonald, Tara M; Sutinen, Sirkka; Clarke, Adrian K

    2004-12-01

    ClpC is a molecular chaperone of the Hsp100 family. In higher plants there are two chloroplast-localized paralogs (ClpC1 and ClpC2) that are approximately 93% similar in primary sequence. In this study, we have characterized two independent Arabidopsis (Arabidopsis thaliana) clpC1 T-DNA insertion mutants lacking on average 65% of total ClpC content. Both mutants display a retarded-growth phenotype, leaves with a homogenous chlorotic appearance throughout all developmental stages, and more perpendicular secondary influorescences. Photosynthetic performance was also impaired in both knockout lines, with relatively fewer photosystem I and photosystem II complexes, but no changes in ATPase and Rubisco content. However, despite the specific drop in photosystem I and photosystem II content, no changes in leaf cell anatomy or chloroplast ultrastructure were observed in the mutants compared to the wild type. Previously proposed functions for envelope-associated ClpC in chloroplast protein import and degradation of mistargeted precursors were examined and shown not to be significantly impaired in the clpC1 mutants. In the stroma, where the majority of ClpC protein is localized, marked increases of all ClpP paralogs were observed in the clpC1 mutants but less variation for the ClpR paralogs and a corresponding decrease in the other chloroplast-localized Hsp100 protein, ClpD. Increased amounts of other stromal molecular chaperones (Cpn60, Hsp70, and Hsp90) and several RNA-binding proteins were also observed. Our data suggest that overall ClpC as a stromal molecular chaperone plays a vital role in chloroplast function and leaf development and is likely involved in photosystem biogenesis. PMID:15563614

  4. Late-Onset Temperature Reduction Can Retard the Aging Process in Aged Fish Via a Combined Action of an Anti-Oxidant System and the Insulin/Insulin-Like Growth Factor 1 Signaling Pathway

    PubMed Central

    Wang, Xia; Chang, Qingyun; Wang, Yu; Su, Feng

    2014-01-01

    Abstract Two different mechanisms are considered to be related to aging. Cumulative molecular damage caused by reactive oxygen species (ROS), the by-products of oxidative phosphorylation, is one of these mechanisms (ROS concept). Deregulated nutrient sensing by the insulin/insulin-like growth factor 1 (IGF-1) signaling (IIS) pathway is the second mechanism (IIS concept). Temperature reduction (TR) is known to modulate aging and prolong life span in a variety of organisms, but the mechanisms remain poorly defined. Here we first demonstrate that late-onset TR from 26°C to 22°C extends mean life span and maximum life span by approximately 5.2 and 3 weeks, respectively, in the annual fish Nothobranchius guentheri. We then show that TR is able to decrease the accumulation of the histological aging markers senescence-associated β-galactosidase (SA-β-Gal) in the epithelium and lipofuscin (LF) in the liver and to reduce protein oxidation and lipid peroxidation levels in the muscle. We also show that TR can enhance the activities of catalase, glutathione peroxidase, and superoxide dismutase, and stimulate the synthesis of SirT1 and FOXO3A/FOXO1A, both of which are the downstream regulators of the IIS pathway. Taken together, our findings suggest that late-onset TR, a simple non-intrusion intervention, can retard the aging process in aged fish, resulting in their life span extension, via a synergistic action of an anti-oxidant system and the IIS pathway. This also suggests that combined assessment of the ROS and IIS concepts will contribute to providing a more comprehensive view of the anti-aging process. PMID:25298234

  5. Cytogenetic Findings in Mentally Retarded Iranian Patients

    PubMed Central

    Nasiri, F; Mahjoubi, F; Manouchehry, F; Razazian, F; Mortezapour, F; Rahnama, M

    2012-01-01

    We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%). The majority were Down’s syndrome cases (n = 138). In 33 males, a positive fragile X anomaly was found. The remainder (n = 34) had other chromosomal abnormalities including structural chromosome aberrations (n = 23), marker chromosomes with an unknown origin (n = 3), sex chromosome aneuploidy (n = 6) and trisomy 18 (n = 2). The contribution of chromosome aberrations to the cause of MR in this group of patients is discussed. PMID:24052729

  6. Cognitive and Academic Skills in Children with Sex Chromosome Abnormalities.

    ERIC Educational Resources Information Center

    Bender, Bruce G.; And Others

    1991-01-01

    Follows 46 unselected children with various sex chromosome abnormalities using intellectual, language, and achievement testing. Notes that, although most children were not mentally retarded, most received special education help. Finds support for the inference that learning disorders were genetically mediated in this group. (RS)

  7. Congenital and Neurological Abnormalities in Infants with Phenylketonuria

    ERIC Educational Resources Information Center

    Johnson, Charles F.; And Others

    1978-01-01

    Examined was the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU--a metabolic disorder which may result in mental retardation) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study.…

  8. Neurotoxicity of brominated flame retardants

    EPA Science Inventory

    Polybrominated diphenyl ethers (PBDEs) have been commonly used as commercial flame retardants in a variety of products including plastics and textiles. Despite their decreasing usage worldwide, congeners continue to accumulate in the environment, including soil, dust, food, anima...

  9. Can earthworms survive fire retardants?

    USGS Publications Warehouse

    Beyer, W.N.; Olson, A.

    1996-01-01

    Most common fire retardants are foams or are similar to common agricultural fertilizers, such as ammonium sulfate and ammonium phosphate. Although fire retardants are widely applied to soils, we lack basic information about their toxicities to soil organisms. We measured the toxicity of five fire retardants (Firetrol LCG-R, Firetrol GTS-R, Silv-Ex Foam Concentrate, Phos-chek D-75, and Phos-chek WD-881) to earthworms using the pesticide toxicity test developed for earthworms by the European Economic Community. None was lethal at 1,000 ppm in the soil, which was suggested as a relatively high exposure under normal applications. We concluded that the fire retardants tested are relatively nontoxic to soil organisms compared with other environmental chemicals and that they probably do not reduce earthworm populations when applied under usual firefighting conditions.

  10. INTRODUCTION TO BROMINATED FLAME RETARDANTS

    EPA Science Inventory

    Brominated flame retardants (BFRs) are a large and diverse class of major industrial products used to provide fire safety. Tetrabromobisphenol A (TBBPA), Hexabromocylocodecane (HBCD), and Polybrominated Diphenyl Ethers (PBDEs) are the major commercial compounds. TBBPA is a react...

  11. Intumescent Coatings as Fire Retardants

    NASA Technical Reports Server (NTRS)

    Fish, R. H.; Fohlen, G. M.; Parker, J. A.; Sawko, P. M.

    1970-01-01

    Fire-retardant paint, when activated by the heat of fire, reacts to form a thick, low-density, polymeric coating or char layer. Water vapor and sulphur dioxide are released during the intumescent reaction.

  12. Delayed growth

    MedlinePlus

    Growth - slow (child 0 - 5 years); Weight gain - slow (child 0 - 5 years); Slow rate of growth; Retarded growth and development; ... A child should have regular, well-baby check-ups with a health care provider. These checkups are usually scheduled ...

  13. Dietary supplementation with β-hydroxy-β-methylbutyrate calcium during the early postnatal period accelerates skeletal muscle fibre growth and maturity in intra-uterine growth-retarded and normal-birth-weight piglets.

    PubMed

    Wan, Haifeng; Zhu, Jiatao; Su, Guoqi; Liu, Yan; Hua, Lun; Hu, Liang; Wu, Caimei; Zhang, Ruinan; Zhou, Pan; Shen, Yong; Lin, Yan; Xu, Shengyu; Fang, Zhengfeng; Che, Lianqiang; Feng, Bin; Wu, De

    2016-04-01

    Intra-uterine growth restriction (IUGR) impairs postnatal growth and skeletal muscle development in neonatal infants. This study evaluated whether dietary β-hydroxy-β-methylbutyrate Ca (HMB-Ca) supplementation during the early postnatal period could improve muscle growth in IUGR neonates using piglets as a model. A total of twelve pairs of IUGR and normal-birth-weight (NBW) male piglets with average initial weights (1·85 (sem 0·36) and 2·51 (sem 0·39) kg, respectively) were randomly allotted to groups that received milk-based diets (CON) or milk-based diets supplemented with 800 mg/kg HMB-Ca (HMB) during days 7-28 after birth. Blood and longissimus dorsi (LD) samples were collected and analysed for plasma amino acid content, fibre morphology and the expression of genes related to muscle development. The results indicate that, regardless of diet, IUGR piglets had a significantly decreased average daily weight gain (ADG) compared with that of NBW piglets (P<0·05). However, IUGR piglets fed HMB-Ca had a net weight and ADG similar to that of NBW piglets fed the CON diet. Irrespective of body weight (BW), HMB-Ca supplementation markedly increased the type II fibre cross-sectional area and the mRNA expression of mammalian target of rapamycin (mTOR), insulin-like growth factor-1 and myosin heavy-chain isoform IIb in the LD of piglets (P<0·05). Moreover, there was a significant interaction between the effects of BW and HMB on mTOR expression in the LD (P<0·05). In conclusion, HMB-Ca supplementation during the early postnatal period could improve skeletal muscle growth and maturity by accelerating fast-twitch glycolytic fibre development in piglets. PMID:26917333

  14. Understanding and Teaching the Dependent Retarded Child.

    ERIC Educational Resources Information Center

    Rosenzweig, Louis E.; Long, Julia

    Levels of mental retardation and school admission procedures for the dependent retarded (IQ's 30 to 50) are reviewed. Goals for all retarded and the application of goals to the dependent retarded are considered. Plans and procedures for both teacher and child activities along with suggestions for audiovisual and other materials are provided in the…

  15. The Mentally Retarded Offender: Annotated Bibliography.

    ERIC Educational Resources Information Center

    Schilit, Jeffrey; And Others

    An annotated bibliography of approximately 150 books and articles on the mentally retarded offender as well as 30 nonannotated entries are provided. Topics covered include such areas as characteristics of mentally retarded delinquents, rehabilitation of the retarded offender, community services for retarded persons, rights of the mentally…

  16. An assessment of sex chromosome copy number in a phenotypic female patient with hypergonadtropic hypogonadism, primary amenorrhea and growth retardation by GTG-banding and FISH in peripheral blood and skin tissues

    SciTech Connect

    Jackson, I.M.D.; DeMoranville, B.; Grollino, M.G.

    1994-09-01

    The present report describes studies performed on an 18-year-old phenotypic female referred because of primary amenorrhea, hypergonadotropic hypoganadism and growth retardation. The clinical features raised the possibility of a gonadal dysgenesis. The ovaries were not identified on either side. Her testosterone was significantly elevated, with serum level at 48 ng/dl, and her free testosterone at 7 pg/ml. A GTG-banding analysis of 33 peripheral blood leukocytes revealed the modal number of chromosomes to be 46 per cell with a male sex constitution and normal appearing banding patterns (46,XY). In view of the clinical findings, additional cells were scored to rule out low percentage mosaicism. Out of 35 additional GTG-banded cells scored for the sex chromosomes, 4 cells (11.5%) were found to contain only one copy of the X chromosome. Fluorescent in situ hybridization (FISH) using dual color biotinylated X and Y probes (Imagenetics) was subsequently performed. Out of approximately 500 cells scored, 87% were found to be XY and 9% were found to be positive for the X signal only, versus 7% and 3% X signal only for 2 XY controls, aged 61 and 46, respectively. As loss of the Y chromosome has been reported in elderly males as well as certain males with leukemia, the age of the controls was important to note. To unequivocally establish the presence of mosaicism, a skin biopsy was obtained for fibroblast culture. Out of 388 total cells scored, 286 (74%) were found to be XY and 46 (12%) were found to be X, versus 99% XY and <1% X in controls. GTG-banding analysis of the same fibroblast culture is currently in progress. Preliminary data on this specimen thus far corroborate results of the FISH study. The presence of XY cells, along with an increased testosterone level, raises the distinct possibility of a gonadoblastoma. In view of this increased risk, arrangements are being made for the patient to have a laparoscopy and surgical removal of her presumptive streak gonads.

  17. Low-set ears and pinna abnormalities

    MedlinePlus

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect-pinna; Congenital defect-pinna ... The outer ear or "pinna" forms when the baby is growing in the mother's womb. The growth of this ear part ...

  18. Development of novel fire retardants

    NASA Astrophysics Data System (ADS)

    Sigdel Regmi, Bhawani

    Numerous candidate environmentally-friendly, water-soluble, and non-toxic fire retardants and fire-retarding processes were developed and tested according to the ASTM D 3801 flammability test and the NRL 8093 smoldering test. Flame retardants that passed the ASTM D 3801 flammability test with the highest V0 rating were boron esters of guanidinium hydroxycarboxylate (glycolate, salicylate and dihydroxybenzoate), zinc gluconate borate ester, and cyanoacetate salts of organic bases (melaminium, cyanoguanidinium, and ammonium). Several related compounds pass this test with the lower V1 rating. Two new synergistic flame and smolder retarding systems were developed in which the individual components were incapable of preventing flame spread or smoldering but in combination they were highly effective. These systems were mixtures of either guanyl urea phosphate and boric acid or beta-alanine and boric acid. Compositions leading to the maximum solubility of boron oxides in the ammonium borate/sodium borate system were determined at several temperatures and the formation of mixtures exceeding 50% dissolved boric acid equivalents was found possible. These mixtures were applied as flame retardants for wood, paper, and carbon-loaded polyurethane foam both directly and indirectly by in situ precipitation of boric acid or zinc borate by appropriate chemical treatments. These all passed the ASTM flammability test with V0 rating. The performance of the boron-containing fire retardants is likely due to deposition of protective boron oxide coatings at elevated temperatures except where phosphate was present and a protective boron phosphate was deposited instead. In all cases, the oxidation of carbonaceous char was strongly inhibited. The hydroxycarboxylate groups generally formed intumescent chars during thermal decomposition that also contributed to fire retardancy.

  19. Children of Deprivation, Changing the Course of Familial Retardation.

    ERIC Educational Resources Information Center

    Kugel, Robert B.; Parsons, Mabel H.

    The growth of preschool familial retarded children was recorded, and attempts were made to alter the course of their development. Of lower socioeconomic class, the 16 subjects aged from 3 to 6, had IQ scores from 50 to 84 and no neurological deficits. One or both of their parents and at least one sibling were mentally subnormal. The subjects and…

  20. Abnormal Head Position

    MedlinePlus

    ... cause. Can a longstanding head turn lead to any permanent problems? Yes, a significant abnormal head posture could cause permanent ... occipitocervical synostosis and unilateral hearing loss. Are there any ... postures? Yes. Abnormal head postures can usually be improved depending ...

  1. Urine - abnormal color

    MedlinePlus

    ... straw-yellow. Abnormally colored urine may be cloudy, dark, or blood-colored. Causes Abnormal urine color may ... red blood cells, or mucus in the urine. Dark brown but clear urine is a sign of ...

  2. [X-linked alpha-thalassemia/mental retardation syndrome].

    PubMed

    Wada, Takahito

    2009-04-01

    X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome, OMIM #301040) is one of the syndromes associated with abnormal epigenetic gene regulation, including ICF(DNMT3B), Rett (MECP2), Rubinstein-Taybi (CBP), Coffin-Lowry (RSK2), and Sotos (NSD1) syndromes. It is a syndromic form of X-linked mental retardation, which affects males and is characterized by profound mental retardation, mild HbH disease (alpha-thalassemia), facial dysmorphism, skeletal abnormalities, and autistic behavior. ATR-X syndrome is caused by a mutation in the ATRX gene on the X chromosome (Xq13), which encodes ATRX protein, belonging to the SNF2 family of chromatin-remodeling proteins. The protein has two functionally important domains: an ADD (ATRX-DNMT3-DNMT3L) domain at the N-terminus, and chromatin-remodeling domain in the C-terminal half, where the ATRX gene mutations of most ATR-X patients reside. Perturbation in DNA methylation in the rDNA genes was repored in ATR-X patients, and ATRX protein is presumed to be involved in the establishment and maintenance of DNA methylation. Based on its various clinical phenotypes, the expressions of many genes, including alpha globin genes, seem to be abnormally regulated in ATR-X patients. However, the precise mechanism involving ATRX protein remains to be elucidated. Epigenetics can link environmental and genetic causes of many pathological conditions. The genes, which are abnormally regulated by a perturbed epigenetic mechanism, are, in themselves, structurally normal, and the elucidation of their mechanism may lead to the development of appropriate therapy. PMID:19489441

  3. Abnormal crystal growth in CH3NH3PbI3-xClx using a multi-cycle solution coating process

    SciTech Connect

    Dong, Qingfeng; Yuan, Yongbo; Shao, Yuchuan; Fang, Yanjun; Wang, Qi; Huang, Jinsong

    2015-06-23

    Recently, the efficiency of organolead trihalide perovskite solar cells has improved greatly because of improved material qualities with longer carrier diffusion lengths. Mixing chlorine in the precursor for mixed halide films has been reported to dramatically enhance the diffusion lengths of mixed halide perovskite films, mainly as a result of a much longer carrier recombination lifetime. Here we report that adding Cl containing precursor for mixed halide perovskite formation can induce the abnormal grain growth behavior that yields well-oriented grains accompanied by the appearance of some very large size grains. The abnormal grain growth becomes prominent only after multi-cycle coating of MAI : MACl blend precursor. The large grain size is found mainly to contribute to a longer carrier charge recombination lifetime, and thus increases the device efficiency to 18.9%, but without significantly impacting the carrier transport property. As a result, the strong correlation identified between material process and morphology provides guidelines for future material optimization and device efficiency enhancement.

  4. Auto cannibalism in mental retardation.

    PubMed

    Verma, Rohit; Mina, Shaily; Sachdeva, Ankur

    2014-01-01

    Mental retardation (MR) deems an individual more vulnerable to psychopathologies. The individual may develop an array of behavioral disturbances manifesting themselves in the form of aggressive and destructive conduct, violent fits of anger, stereotyped, or self-injuring behavior. Self-injurious behavior is heterogeneous in nature ranging from mild to severe variant. We report a case of a 7-year-old boy with MR with self-inflicted severe oral injuries of cannibalistic nature presenting as cleft lip and palate. A more extensive research is needed on the problem behaviors in mentally retarded patients for early detection and effective and timely intervention leading to a better outcome. PMID:24891909

  5. Classroom Techniques: Using Clay Bodies in Multidimensional Teaching of the Retarded

    ERIC Educational Resources Information Center

    Harcum, Phoebe M.

    1972-01-01

    Described are uses of ceramics in educational programs of broad application to handicapped, particularly, mentally retarded, children. Benefits in social, emotional, and mental growth are identified. (Author/KW)

  6. Chromosomal abnormalities in a psychiatric population

    SciTech Connect

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W.

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  7. Differential binding of fibroblast growth factor-2 and -7 to basement membrane heparan sulfate: comparison of normal and abnormal human tissues.

    PubMed Central

    Friedl, A.; Chang, Z.; Tierney, A.; Rapraeger, A. C.

    1997-01-01

    Fibroblast growth factors (FGFs) play multiple roles during development and in adult tissues as paracrine regulators of growth and differentiation. FGFs signal through transmembrane receptor tyrosine kinases, but heparan sulfate is also required for signaling by members of the FGF family. In addition, heparan sulfate may be involved in determining tissue distribution of FGFs. Using biotinylated FGF-2 and FGF-7 (KGF) as probes, we have identified specific interactions between FGFs and heparan sulfates in human tissues. Both FGF species bind to tissue mast cells and to epithelial cell membranes. Binding to basement membrane heparan sulfate is tissue source dependent and specific. Although FGF-2 strongly binds to basement membrane heparan sulfate in skin and most other tissue sites examined, FGF-7 fails to bind to basement membrane heparan sulfate in most locations. However, in subendothelial matrix in blood vessels and in the basement membrane of a papillary renal cell carcinoma, strong FGF-7 binding is seen. In summary, distinct and specific affinities of heparan sulfates for different FGFs were identified that may affect growth factor activation and local distribution. Heparan sulfate may have a gatekeeper function to either restrict or permit diffusion of heparin-binding growth factors across the basement membrane. Images Figure 1 Figure 3 Figure 4 Figure 5 Figure 6 PMID:9094999

  8. Systematic Dyskinesia Examination of Profoundly Mentally Retarded Persons: Cooperation and Assessment.

    ERIC Educational Resources Information Center

    Granger, Douglas A.; And Others

    1987-01-01

    Dyskinesia, abnormal involuntary movements associated with long-term neuroleptic drug use, was evaluated with 344 institutionalized profoundly mentally retarded adults using the Dyskinesia Identification System Condensed User Scale. Results indicated performance deficits on activation tasks associated with intelligence quotients, neuroleptic…

  9. Advanced Microscopic Imaging Methods to Investigate Cortical Development and the Etiology of Mental Retardation

    ERIC Educational Resources Information Center

    Haydar, Tarik F.

    2005-01-01

    Studies on human patients and animal models of disease have shown that disruptions in prenatal and early postnatal brain development are a root cause of mental retardation. Since proper brain development is achieved by a strict spatiotemporal control of neurogenesis, cell migration, and patterning of synapses, abnormalities in one or more of these…

  10. Chronic Regurgitation among Persons with Mental Retardation: A Need for Combined Medical and Interdisciplinary Strategies.

    ERIC Educational Resources Information Center

    Rogers, B.; And Others

    1992-01-01

    This study found chronic regurgitation in 23 of 220 institutionalized adults with severe mental retardation. A high prevalence of dysphagia and gastroesophageal abnormalities was found, suggesting the importance of full evaluation and treatment prior to a diagnosis of rumination in this population. (Author/DB)

  11. Spontaneous Eye-Blinking and Stereotyped Behavior in Older Persons with Mental Retardation

    ERIC Educational Resources Information Center

    Roebel, Amanda M.; MacLean, William E., Jr.

    2007-01-01

    Previous research indicates that abnormal stereotyped movements are associated with central dopamine dysfunction and that eye-blink rate is a noninvasive, in vivo measure of dopamine function. We measured the spontaneous eye-blinking and stereotyped behavior of older adults with severe/profound mental retardation living in a state mental…

  12. Idiots Savants: Retarded and Gifted.

    ERIC Educational Resources Information Center

    Yewchuk, Carolyn

    The paper reviews the paradoxical nature of idiots savants, persons who, although retarded, have exceptional skills in certain areas. Various explanations for the phenomenon are discussed, such as a specific genetic endowment, a specialized compensatory response to general intellectual deficiency, and possession of an eidetic memory. Various…

  13. Books for Mentally Retarded Children.

    ERIC Educational Resources Information Center

    Cincinnati - Hamilton County Public Library, OH.

    Presented is an annotated list of approximately 300 books for educable (EMR) and trainable mentally retarded (TMR) children and adolescents, 6 to 15 years of age. Books are arranged in the following groups for EMR students: Group I contains approximately 84 entries for students 6 to 9 years of age; Group II lists approximately 81 stories and books…

  14. Transportation and the Mentally Retarded.

    ERIC Educational Resources Information Center

    President's Committee on Mental Retardation, Washington, DC.

    Reported were the results of a contract that involved identification, description, and categorization of the nature of transportation problems for the mentally retarded by means of analysis of existing studies, two surveys, and an inventory of specialized programs and systems operating in the United States. One major problem was found to be…

  15. Detection of Malingered Mental Retardation

    ERIC Educational Resources Information Center

    Shandera, Anne L.; Berry, David T. R.; Clark, Jessica A.; Schipper, Lindsey J.; Graue, Lili O.; Harp, Jordan P.

    2010-01-01

    In a cross-validation of results from L. O. Graue et al. (2007), standard psychological assessment instruments, as well as tests of neurocognitive and psychiatric feigning, were administered under standard instructions to 24 participants diagnosed with mild mental retardation (MR) and 10 demographically matched community volunteers (CVH). A 2nd…

  16. Toilet Training the Retarded Child.

    ERIC Educational Resources Information Center

    Schwartz, Jeffrey K.

    The booklet offers guidelines in both Spanish and English to parents who are toilet training a mentally retarded child. The toilet training process is broken down into tasks that the child must learn, and the importance of positive reinforcement for each successfully accomplished task is emphasized. It is recommended that parents keep charts…

  17. HANDBOOK OF MENTAL RETARDATION SYNDROMES.

    ERIC Educational Resources Information Center

    CARTER, CHARLES H.

    THE CLINICAL SYNDROMES WHICH CONTRIBUTE TO THE PRODUCTION OF MENTAL RETARDATION ARE DESCRIBED BY SIGNS, SYMPTOMS, AND ETIOLOGY. SYNDROMES TREATED ARE (1) PRENATAL AND POSTNATAL INFECTIONS, (2) PRENATAL INTOXICATION AND ALLERGIC REACTIONS, (3) PRENATAL TRAUMA, PHYSICAL AGENTS, OR INTOXICATION, (4) BIRTH INJURIES, (5) POSTNATAL POISONS AND ALLERGIC…

  18. Dichotic Stimulation and Mental Retardation.

    ERIC Educational Resources Information Center

    Mosley, James L.; Virbancic, Mirna I.

    1990-01-01

    This paper reviews literature on the use of dichotic stimulation in individuals with mental retardation, and examines how noninvasive dichotic stimulation relates to hemisphere lateralization. Common findings are discussed concerning direction and magnitude of ear asymmetries, patterns of intrusion errors, and speech lateralization of Down…

  19. Genetic Counseling in Mental Retardation.

    ERIC Educational Resources Information Center

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  20. Fire-retardant epoxy polymers

    NASA Technical Reports Server (NTRS)

    Akawie, R. I.; Bilow, N.; Giants, T. W.

    1978-01-01

    Phosphorus atoms in molecular structure of epoxies make them fire-retardant without degrading their adhesive strength. Moreover, polymers are transparent, unlike compounds that contain arsenic or other inorganics. They have been used to bond polyvinylfluoride and polyether sulfone films onto polyimide glass laminates.

  1. Mental Retardation: Diagnosis and Treatment.

    ERIC Educational Resources Information Center

    Poser, Charles M., Ed.

    A collection of writings by 17 authors, the text includes the following discussions: general principles of diagnosis and management of mental retardation, neurologic evaluation of the infant and child, psychological evaluation, educational information, and treatment of pseudoretardation, communicative disorders, and metabolic and endocrine causes.…

  2. VOCATIONAL PROGRAMMING FOR THE RETARDED.

    ERIC Educational Resources Information Center

    BRICE, CARL R.

    A SUCCESSFUL PROGRAM OF VOCATIONAL TRAINING FOR THE MENTALLY RETARDED IS BEING CARRIED ON AT THE MADISON (WISCONSIN) VOCATIONAL, TECHNICAL, AND ADULT SCHOOLS. THE TRAINEES MUST BE 17 YEARS OR OLDER, WITH AN IQ OF APPROXIMATELY 50-75. THE SCHOOL OF QUANTITY FOOD PREPARATION CONTRIBUTES GREATLY TO THIS PROGRAM, FOR WHILE IT MAINLY TEACHES CHEFS AND…

  3. A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

    PubMed

    Salpietro, Vincenzo; Ruggieri, Martino; Mankad, Kshitij; Di Rosa, Gabriella; Granata, Francesca; Loddo, Italia; Moschella, Emanuela; Calabro, Maria Pia; Capalbo, Anna; Bernardini, Laura; Novelli, Antonio; Polizzi, Agata; Seidler, Daniela G; Arrigo, Teresa; Briuglia, Silvana

    2015-09-01

    Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital anomalies including a ventricular septal defect and an underdeveloped cerebellar vermis. She presented with severe pre- and post-natal growth failure, hyperextensible small joints (Beighton scores = 8/9; with normal parental scores), and an abnormally elastic, redundant skin. Abnormally high upper/lower segment ratio (i.e., 1.34 = > 3SD), mild dysmorphic facial features and developmental delay were also present. The girl's phenotype was compared with: (i) two girls, each previously reported by Bisgaard et al. and Caselli et al. with similar albeit larger (2.6-7.21 Mb) deletions; (ii) seven additional individuals (6 M; 1 F) harboring deletions within the 6q25.1 region reported in the literature; and (iii) ten further patients (5 M; 4 F; 1 unrecorded sex) recorded in the DECIPHER 6.0 database. We reported on the present girl as her findings could contribute to advance the phenotype of 6q deletions. In addition, the present deletion is the smallest so far recorded in the 6q25 region encompassing eight known genes [vs. 41 of Bisgaard et al., and 23 of Caselli et al.,], including the TAB2 (likely responsible for the girl's congenital heart defect), LATS1 gene, and the UST gene (a regulator of the homeostasis of proteoglycans, which could have played a role in the abnormal dermal and cartilage elasticity). PMID:25940952

  4. The Supreme Court V. Retarded Children.

    ERIC Educational Resources Information Center

    Biklen, Douglas

    1981-01-01

    The author examines the Supreme Court decisions regarding the rights of retarded children not to be institutionalized and rights of retarded people to have aggressive medical treatment that will help prolong their lives. (SB)

  5. Abnormal immune responses of Bloom's syndrome lymphocytes in vitro.

    PubMed Central

    Hütteroth, T H; Litwin, S D; German, J

    1975-01-01

    Bloom's syndrome is a rare autosmal recessive disorder, first characterized by growth retardation and asum-sensitive facial telangiectasia and more recently demonstarted to have increased chromosome instability, a predisposition to malignancy, and increased susecptibitily to infection. The present report ocncern the immune function of Bloom's syndrom lymphoctes in vitro. Four affected homozgotes and five heterozygotes were studied. An abnormal serum concentartion of at least one class of immunoglobin was present in three out of four homozgotes. Affected homozgotes were shown capable of both a humoral and cellular response after antigenic challenge, the responses in general being weak but detectable. Blood lymphocytes from Bloom's syndrome individuals were cultured in impaired proliferavite response and synthesized less immunoglobulin at the end of 5 days than did normal controls. In contrast, they had a normal proliferative response to phytohemagglutinin except at highest concentrations of the mitogen. In the mixed lymphocte culture, Bloom's syndrome lymphocytes proved to be poor responder cells but normal stimulator cells. Lmyphoctes from the heterozgotes produced normal responses in these three systems. Distrubed immunity appears to be on of several major consequences of homozygosity for the Bloom's syndrome gene. Although the explanation for this pleiotropism is at present obscure, the idea was advanced that the aberrant immune function is, along with the major clincial feature-small body size, amanifestation of defect in cellular proliferation. PMID:124745

  6. Tooth - abnormal shape

    MedlinePlus

    Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth ... The appearance of normal teeth varies, especially the molars. ... conditions. Specific diseases can affect tooth shape, tooth ...

  7. Tooth - abnormal shape

    MedlinePlus

    Hutchinson incisors; Abnormal tooth shape; Peg teeth; Mulberry teeth; Conical teeth ... from many different conditions. Specific diseases can affect tooth shape, tooth color, time of appearance, or absence ...

  8. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    SciTech Connect

    Lozzio, C.B.; Bamberger, E.; Anderson, I.

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  9. Rehearsal Capacity and Dimensional Independence in Retardates

    ERIC Educational Resources Information Center

    McBane, Bonnie M.

    1976-01-01

    Retardate use of retention strategies and the independence of color and form retention were compared with predictions of the Attention-Retention theory of retardate discrimination learning. Institutional retardates were selected from two MA ranges, 6 to 8 and 9 to 12 years, without regard to diagnostic categories. (Author/JH)

  10. Endocrine Disorders Associated with Mental Retardation

    PubMed Central

    Reddy, Churku Mohan

    1980-01-01

    Endocrine disorders associated with mental retardation are described in relation to clinical characteristics, pathogenesis, diagnostic procedures, and treatment. Some endocrine disorders, particularly hypothyroidism, nephrogenic-diabetes insipidus, and hypoglycemic conditions, are frequently associated with mental retardation. Early diagnosis and prompt and proper management reduce mortality and the incidence of mental retardation associated with endocrine disorders. PMID:7392067

  11. Low Elevated Lead Levels and Mental Retardation.

    ERIC Educational Resources Information Center

    Marlowe, Mike; And Others

    The relationship between low elevated lead absorption and mild mental retardation was investigated in 40 rural children (preschool to grade 12) without demonstrable cause for their retardation. Trace mineral analysis of hair samples from Ss and a control group (N=20) indicated the mean hair lead concentrations for the retarded Ss were considerably…

  12. Mental Retardation: Prevention Strategies That Work.

    ERIC Educational Resources Information Center

    President's Committee on Mental Retardation, Washington, DC.

    The report by the President's Committee on Mental Retardation reviews the current state of knowledge in the area of biological and environmental prevention of mental retardation and describes programs on the frontiers of research or service delivery. Section I examines programs that are effectively preventing mental retardation through biomedical…

  13. THE TEACHER OF THE MENTALLY RETARDED.

    ERIC Educational Resources Information Center

    CHARNEY, LEON; LACROSSE, EDWARD

    BASIC INFORMATION IS PROVIDED FOR PROSPECTIVE TEACHERS OF MENTALLY RETARDED CHILDREN. THE FIRST FOUR CHAPTERS ARE DEVOTED TO CLASSROOM CONDITIONS, PARENTAL ATTITUDES, AND TEACHER-PUPIL INTERACTION IN THE SPECIAL CLASS FOR RETARDATES. CHAPTER ONE GIVES A GENERAL DESCRIPTION OF THE MENTALLY RETARDED CHILD AS HE APPEARS TO THE TEACHER. CHAPTER TWO…

  14. GLIAL ABNORMALITIES IN MOOD DISORDERS

    PubMed Central

    Öngür, Dost; Bechtholt, Anita J.; Carlezon, William A.; Cohen, Bruce M.

    2015-01-01

    Multiple lines of evidence indicate that mood disorders are associated with abnormalities in the brain's cellular composition, especially in glial cells. Considered inert support cells in the past, glial cells are now known to be important for brain function. Treatments for mood disorders enhance glial cell proliferation, and experimental stimulation of cell growth has antidepressant effects in animal models of mood disorders. These findings suggest that the proliferation and survival of glial cells may be important in the pathogenesis of mood disorders and may be possible targets for the development of new treatments. In this chapter, we will review the evidence for glial abnormalities in mood disorders. We will discuss glial cell biology and evidence from postmortem studies of mood disorders. This is not carry out a comprehensive review; rather we selectively discuss existing evidence in building an argument for the role of glial cells in mood disorders. PMID:25377605

  15. Structurally abnormal human autosomes

    SciTech Connect

    1993-12-31

    Chapter 25, discusses structurally abnormal human autosomes. This discussion includes: structurally abnormal chromosomes, chromosomal polymorphisms, pericentric inversions, paracentric inversions, deletions or partial monosomies, cri du chat (cat cry) syndrome, ring chromosomes, insertions, duplication or pure partial trisomy and mosaicism. 71 refs., 8 figs.

  16. Overexpression of 3β-Hydroxysteroid Dehydrogenases/C-4 Decarboxylases Causes Growth Defects Possibly Due to Abnormal Auxin Transport in Arabidopsis

    PubMed Central

    Kim, Bokyung; Kim, Gyusik; Fujioka, Shozo; Takatsuto, Suguru; Choe, Sunghwa

    2012-01-01

    Sterols play crucial roles as membrane components and precursors of steroid hormones (e.g., brassinosteroids, BR). Within membranes, sterols regulate membrane permeability and fluidity by interacting with other lipids and proteins. Sterols are frequently enriched in detergent-insoluble membranes (DIMs), which organize molecules involved in specialized signaling processes, including auxin transporters. To be fully functional, the two methyl groups at the C-4 position of cycloartenol, a precursor of plant sterols, must be removed by bifunctional 3β-hydroxysteroid dehydrogenases/C-4 decarboxylases (3βHSD/D). To understand the role of 3βHSD/D in Arabidopsis development, we analyzed the phenotypes of knock-out mutants and overexpression lines of two 3βHSD/D genes (At1g47290 and At2g26260). Neither single nor double knock-out mutants displayed a noticeable phenotype; however, overexpression consistently resulted in plants with wrinkled leaves and short inflorescence internodes. Interestingly, the internode growth defects were opportunistic; even within a plant, some stems were more severely affected than others. Endogenous levels of BRs were not altered in the overexpression lines, suggesting that the growth defect is not primarily due to a flaw in BR biosynthesis. To determine if overexpression of the sterol biosynthetic genes affects the functions of membrane-localized auxin transporters, we subjected plants to the auxin efflux carrier inhibitor, 1-N-naphthylphthalamic acid (NPA). Whereas the gravity vectors of wild-type roots became randomly scattered in response to NPA treatment, those of the over-expression lines continued to grow in the direction of gravity. Overexpression of the two Arabidopsis 3βHSD/D genes thus appears to affect auxin transporter activity, possibly by altering sterol composition in the membranes. PMID:22673766

  17. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.

    PubMed

    Moretti, Paolo; Peters, Sarika U; Del Gaudio, Daniela; Sahoo, Trilochan; Hyland, Keith; Bottiglieri, Teodoro; Hopkin, Robert J; Peach, Elizabeth; Min, Sang Hee; Goldman, David; Roa, Benjamin; Bacino, Carlos A; Scaglia, Fernando

    2008-07-01

    We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects received ADOS and ADI-R testing and met diagnostic criteria for autism or autism spectrum disorders. They exhibited difficulties with transitions, insistence on sameness, unusual sensory interests, and repetitive behaviors. Those with the best language skills largely used repetitive phrases. No mutations were found in folate transporter or folate enzyme genes. These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities. PMID:18027081

  18. Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

    PubMed Central

    Moretti, Paolo; Peters, Sarika U.; del Gaudio, Daniela; Sahoo, Trilochan; Hyland, Keith; Bottiglieri, Teodoro; Hopkin, Robert J.; Peach, Elizabeth; Min, Sang Hee; Goldman, David; Roa, Benjamin

    2014-01-01

    We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had seizures; four demonstrated neurological abnormalities in the neonatal period. Two subjects had profound neurological abnormalities that precluded formal behavioral testing. Five subjects received ADOS and ADI-R testing and met diagnostic criteria for autism or autism spectrum disorders. They exhibited difficulties with transitions, insistence on sameness, unusual sensory interests, and repetitive behaviors. Those with the best language skills largely used repetitive phrases. No mutations were found in folate transporter or folate enzyme genes. These findings demonstrate that autistic features are salient in CFD and suggest that a subset of children with developmental regression, mental retardation, seizures, dyskinesia, and autism may have CNS folate abnormalities. PMID:18027081

  19. [Sterilization of mentally retarded women].

    PubMed

    Heidenreich, W; Petersen, P; Schneider, J

    1982-07-01

    Seven mentally retarded women were sterilized in the Department of Obstetrics and Gynaecology of Medical School Hannover between 1.6.74 and 1.6.81. The decision to operate proceeded only after careful consideration by the director of the clinic. Each case was documented with proof that improvement of the mental situation was unprobable and that sterilization seemed highly desirable. In spite of strong reservation the sterilization of a mentally retarded may medically and ethically be justified in exceptional cases. The operation seems possible by the following: The sterilization may only be performed if the patient does not obviously refuse it. Diagnosis and prognosis of the mental handicap must undoubtedly be proven. If the patient cannot judge the consequence of the operation the legal guardian must decide for her. The court must consent in these cases. Regarding legal theory the decision by the guardian is an open question. PMID:6922080

  20. Supplementation of L-arginine prevents glucocorticoid-induced reduction of bone growth and bone turnover abnormalities in a growing rat model.

    PubMed

    Pennisi, Pietra; D'Alcamo, Maria Antonia; Leonetti, Concetta; Clementi, Anna; Cutuli, Vincenza Maria; Riccobene, Stefania; Parisi, Natalia; Fiore, Carmelo Erio

    2005-01-01

    The present study was designed to evaluate the effects of glucocorticoid (GC) treatment on bone turnover and bone mineral density in the growing rat. Because of the recent evidence that nitric oxide (NO) can counteract prednisolone-induced bone loss in mature rats, we examined the effect on bone of the NO donor L: -arginine in young male rats, in which bone mass is increased by the same biological mechanism as in children and adolescents. Thirty-six 10-week-old Sprague-Dawley male rats were assigned to six groups of six animals each, and treated for 4 weeks with either vehicle (once a week subcutaneous injection of 100 microl of sesame oil); prednisolone sodium succinate, 5 mg/kg, 5 days per week by intramuscular injection (i.m.); L-arginine, 10 mg/kg intraperitoneally (i.p.) once a day; N(G)-nitro-L-arginine methylester (L-NAME), 50 mg/kg subcutaneously once a day; prednisolone sodium succinate 5 mg/kg, 5 days per week i.m. +L-arginine 10 mg/kg i.p. once a day; or prednisolone sodium succinate, 5 mg/kg, 5 days per week i.m. +L-NAME 50 mg/kg subcutaneously once a day. Serum calcium, alkaline phosphatase (ALP), osteocalcin, and the C-terminal telopeptides of type I collagen (RatLaps) were measured at baseline conditions and after 2 and 4 weeks. Prior to treatment, and after 2 and 4 weeks, the whole body, vertebral, pelvic, and femoral bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA) scanning. Prednisolone and prednisolone+L-NAME treated rats had significantly lower ALP and osteocalcin levels than controls at 2 and 4 weeks, and significantly higher levels of Rat-Laps than controls at 4 weeks. Prednisolone, L-NAME, and prednisolone+L-NAME produced a significant inhibition of bone accumulation and bone growth at all sites measured. Supplementation with L-arginine appeared to prevent the inhibition of bone growth and increase in bone resorption induced by prednisolone. These data would suggest, for the first time, that supplementation

  1. X chromosome inactivation and X-linked mental retardation

    SciTech Connect

    Willard, H.F. |

    1996-07-12

    The expression of X-linked genes in females heterozygous for X-linked defects can be modulated by epigenetic control mechanisms that constitute the X chromosome inactivation pathway. At least four different effects have been found to influence, in females, the phenotypic expression of genes responsible for X-linked mental retardation (XLMR). First, non-random X inactivation, due either to stochastic or genetic factors, can result in tissues in which one cell type (for example, that in which the X chromosome carrying a mutant XLMR gene is active) dominates, instead of the normal mosaic cell population expected as a result of random X inactivation. Second, skewed inactivation of the normal X in individuals carrying a deletion of part of the X chromosome has been documented in a number of mentally retarded females. Third, functional disomy of X-linked genes that are expressed inappropriately due to the absence of X inactivation has been found in mentally retarded females with structurally abnormal X chromosomes that do not contain the X inactivation center. And fourth, dose-dependent overexpression of X-linked genes that normally {open_quotes}escape{close_quotes} X inactivation may account for the mental and developmental delay associated with increasing numbers of otherwise inactive X chromosomes in individuals with X chromosome aneuploidy. 53 refs., 1 fig.

  2. Fire-Retardant Polymeric Additives

    NASA Technical Reports Server (NTRS)

    Williams, Martha K.; Smith, Trent M.

    2011-01-01

    Polyhydroxyamide (PHA) and polymethoxyamide (PMeOA) are fire-retardant (FR) thermoplastic polymers and have been found to be useful as an additive for imparting fire retardant properties to other compatible, thermoplastic polymers (including some elastomers). Examples of compatible flammable polymers include nylons, polyesters, and acrylics. Unlike most prior additives, PHA and PMeOA do not appreciably degrade the mechanical properties of the matrix polymer; indeed, in some cases, mechanical properties are enhanced. Also, unlike some prior additives, PHA and PMeOA do not decompose into large amounts of corrosive or toxic compounds during combustion and can be processed at elevated temperatures. PMeOA derivative formulations were synthesized and used as an FR additive in the fabrication of polyamide (PA) and polystyrene (PS) composites with notable reduction (>30 percent for PS) in peak heat release rates compared to the neat polymer as measured by a Cone Calorimeter (ASTM E1354). Synergistic effects were noted with nanosilica composites. These nanosilica composites had more than 50-percent reduction in peak heat release rates. In a typical application, a flammable thermoplastic, thermoplastic blend, or elastomer that one seeks to render flame-retardant is first dry-mixed with PHA or PMeOA or derivative thereof. The proportion of PHA or PMeOA or derivative in the mixture is typically chosen to lie between 1 and 20 weight percent. The dry blend can then be melt-extruded. The extruded polymer blend can further be extruded and/or molded into fibers, pipes, or any other of a variety of objects that may be required to be fire-retardant. The physical and chemical mechanisms which impart flame retardancy of the additive include inhibiting free-radical oxidation in the vapor phase, preventing vaporization of fuel (the polymer), and cooling through the formation of chemical bonds in either the vapor or the condensed phase. Under thermal stress, the cyclic hydroxyl/ methoxy

  3. "Jeopardy" in Abnormal Psychology.

    ERIC Educational Resources Information Center

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  4. Abnormal Uterine Bleeding FAQ

    MedlinePlus

    ... as cancer of the uterus, cervix, or vagina • Polycystic ovary syndrome How is abnormal bleeding diagnosed? Your health care ... before the fetus can survive outside the uterus. Polycystic Ovary Syndrome: A condition characterized by two of the following ...

  5. Speech acts: sampling the social construction of mental retardation in everyday life.

    PubMed

    Danforth, S; Navarro, V

    1998-02-01

    A sample of speech acts in everyday discourse referring to persons or events having to do with the term mental retardation was analyzed in order to investigate the belief that language use both constructs and reflects cultural norms that define the social roles of persons reduced to object status through categorical membership. Speech acts gathered suggest four emergent themes: the discourse of category membership, the dichotomy of normal and abnormal, issues of place and space, and fear. These themes were explicated from a social constructionist perspective, displaying the way speech acts construct mental retardation and subvert individuals with the label into demeaned and ridiculed objects of cultural fear. PMID:9492516

  6. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

    PubMed Central

    Revesz, T; Fletcher, S; al-Gazali, L I; DeBuse, P

    1992-01-01

    A male infant was found to have bilateral exudative retinopathy at 6 months of age. A month later severe aplastic anaemia was diagnosed, eventually leading to the infant's death. Additional features of this seemingly new syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcifications, extensor hypertonia, and progressive psychomotor retardation. Images PMID:1404302

  7. Psychomotor Retardation in Depression: A Systematic Review of Diagnostic, Pathophysiologic, and Therapeutic Implications

    PubMed Central

    Bennabi, Djamila; Vandel, Pierre; Papaxanthis, Charalambos; Pozzo, Thierry; Haffen, Emmanuel

    2013-01-01

    Psychomotor retardation is a central feature of depression which includes motor and cognitive impairments. Effective management may be useful to improve the classification of depressive subtypes and treatment selection, as well as prediction of outcome in patients with depression. The aim of this paper was to review the current status of knowledge regarding psychomotor retardation in depression, in order to clarify its role in the diagnostic management of mood disorders. Retardation modifies all the actions of the individual, including motility, mental activity, and speech. Objective assessments can highlight the diagnostic importance of psychomotor retardation, especially in melancholic and bipolar depression. Psychomotor retardation is also related to depression severity and therapeutic change and could be considered a good criterion for the prediction of therapeutic effect. The neurobiological process underlying the inhibition of activity includes functional deficits in the prefrontal cortex and abnormalities in dopamine neurotransmission. Future investigations of psychomotor retardation should help improve the understanding of the pathophysiological mechanisms underlying mood disorders and contribute to improving their therapeutic management. PMID:24286073

  8. Duplication of 5q21 in a mildly retarded male and his non-retarded mother

    SciTech Connect

    Stallard, R.; Zurcher, V.; Schwartz, S.

    1994-09-01

    Euchromatic autosomal additions to chromosomal complements are typically associated with global effects including mental retardation (MR) and dysmorphism. We report a familial duplication that does not appear to cause consistent, significant effects. A hyperactive male with mild MR was referred for fra(X) testing at 8 yrs. His karyotype was fra(X) negative and normal except for an addition in one 5q. The abnormal 5 was also in the maternal karyotype, but all other parental chromosomes were normal. The addition (=8.5% the length of a 5) was interpreted as a duplication of band 5q21. FISH with Coatasome 5 (Oncor) showed the addition was from 5. The proband`s karyotype was designated 46,XY,dup(5)(q15q22.1)mat; his mother`s, 46,XX,dup(5)(q15q22.1). Single copy probes are being used to test the cytogenetic interpretation. At 39 yrs, the non-retarded, somewhat inattentive mother, who has a high school diploma and subsequent secretarial courses, cares for the proband and his chromosomally normal, but learning disabled sister at home. The family situation is chaotic with reported paternal psychiatric illness and abuse of the proband and his sister. The mother`s father is dead, but her four younger siblings and mother are reportedly normal. Their chromosomes have not been available. The proband was born at 40 weeks following an uneventful pregnancy, with length and weight at the 5-10th centiles. He walked and talked at about one year. At 9 yrs, his ht/wt ratio was 10th centile. Foot length as <3rd centile; soft masses were present on the anterior ankles. He was otherwise physically normal. His estimated I.Q. was 75 and he was severely hyperactive despite Ritalin. This is the first report of a familial duplication in 5q; no identical, isolated case is known. Although additional family members need evaluation, the presence of the dup(5q) in the non-retarded mother suggests that it may not be associated with the proband`s MR.

  9. Fire retardancy using applied materials

    NASA Technical Reports Server (NTRS)

    Feldman, R.

    1971-01-01

    An example of advanced technology transfer from the Little Joe, Surveyor, Comsat, re-entry and Apollo age to everyday fire protection needs is presented. Utilizing the principle of sublimation cooling for thermostatic temperature control, the material meets a wide range of fire retardancy and heat transmission control requirements. Properties vary from flexible tape for conduits and electrical cables to rigid coatings for column protection, with a broad spectrum of sublimation temperatures available. The material can be applied in the field or in the factory, utilizing mass production techniques, yielding a product that is reliable, effective, widely available and low in cost.

  10. Growth hormone stimulation test (image)

    MedlinePlus

    ... test is performed by administering the amino acid arginine in a vein to raise hGH levels. The ... to secrete growth hormone in response to the arginine. Lack of hGH can cause growth retardation in ...

  11. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

    PubMed Central

    Saman Kumara, L. P. C.

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  12. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

    PubMed

    Paththinige, C S; Sirisena, N D; Kariyawasam, U G I U; Saman Kumara, L P C; Dissanayake, V H W

    2016-01-01

    A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. PMID:27610251

  13. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

    PubMed Central

    Bolhuis, P A; Hensels, G W; Hulsebos, T J; Baas, F; Barth, P G

    1991-01-01

    X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria is clinically characterized by congenital dilated cardiomyopathy, skeletal myopathy, recurrent bacterial infections, and growth retardation. We analyzed linkage between the disease locus and X-chromosomal markers in a family with seven carriers, four patients, and eight unaffected sons of carriers. Highest lod scores obtained by two-point linkage analysis were 2.70 for St14.1 (DXS52, TaqI) at a recombination fraction of zero and 2.53 for cpX67 (DXS134) at a recombination fraction of zero. Multipoint linkage analysis resulted in a maximum lod score of 5.24 at the position of St35.691 (DXS305). The most distal recombination detected in this family was located between the markers II-10 (DXS466) and DX13 (DXS15). These data indicate the location of the mutated gene at Xq28. PMID:1998334

  14. Orthopaedic Problems of the Mentally Retarded

    ERIC Educational Resources Information Center

    McSweeney, Anthony

    1972-01-01

    Problems encountered by orthopedic surgeons treating the mentally retarded are identified, and cooperation among pediatricians, psychiatrists, psychologists, social workers, physiotherapists, occupational therapists, and orthopedic surgeons is recommended. (GW)

  15. Polarization of macrophages induced by Toxoplasma gondii and its impact on abnormal pregnancy in rats.

    PubMed

    Kong, Lanting; Zhang, Qian; Chao, Jing; Wen, Huiqin; Zhang, Yihua; Chen, He; Pappoe, Faustina; Zhang, Aimei; Xu, Xiucai; Cai, Yihong; Li, Min; Luo, Qingli; Zhang, Linjie; Shen, Jilong

    2015-03-01

    Toxoplasma gondii infection is the leading cause of fetal intrauterine growth retardation among the five kinds of pathogens termed as TORCH, including Toxoplasma, Rubella virus, Cytomegalo virus, herpes virus and others during pregnancy. Pathogens infect the fetus through the placenta. T. gondii infection may result in congenital toxoplasmosis, miscarriage, stillbirth, and preemie, and increase pregnancy complications. Adaptive immune response induced by T. gondii infection stimulates T cells and macrophages to produce high levels of cytokines. Physiologically, the microenvironment of pregnancy was Th2-dominant. Here we set up a pregnant Sprague-Dawley rat model, and reported the polarization of macrophages induced by genotype Chinese 1 strain (Wh6) of Toxoplasma, and its adverse impact on pregnancy. The results showed that Wh6 infection pre- or in-gestation both led to abnormal pregnancy outcomes. Peritoneal macrophages in pre-gestation infection were polarized toward classically activated macrophages (M1), while in-gestation infection drove macrophages to polarize toward M2 activation. The Th2-dominant immune response in pregnant rat somewhat inhibits the excessive bias of the macrophages toward M1, and partially, toward M2. Infection of pre- and in-gestation may alter the physiological immune microenvironment in pregnant rats, giving rise to abnormal pregnancy outcomes. PMID:25496968

  16. You and Your Retarded Child. A Manual for Parents of Retarded Children.

    ERIC Educational Resources Information Center

    Kirk, Samuel A.; And Others

    The book offers advice to parents of retarded children in recognizing and facing inherent problems and provides insight into their own emotional needs and those of their child. Levels of retardation are described and assistance given to aid parents in determining how retarded their child is and whether to send the child to a residential school or…

  17. EFFECT OF AN OZONE INJURY RETARDANT CHEMICAL ON ISOZYME PROFILES FROM ALFALFA CALLUS IN VITRO

    EPA Science Inventory

    Plant ozone injury retardant (EDU or ethylenediurea) at 1.0 ppm inhibited growth of callus of alfalfa cultivars Williamsburg (ozone-sensitive) and MSB-CW5An2(ozone-insensitive) germplasm of Medicago sative. The presence of EDU(0.1 ppm) in growth medium increased the number of pro...

  18. Myelodysplastic syndromes: pathogenesis, functional abnormalities, and clinical implications.

    PubMed Central

    Jacobs, A

    1985-01-01

    The myelodysplastic syndromes represent a preleukaemic state in which a clonal abnormality of haemopoietic stem cell is characterised by a variety of phenotypic manifestations with varying degrees of ineffective haemopoiesis. This state probably develops as a sequence of events in which the earliest stages may be difficult to detect by conventional pathological techniques. The process is characterised by genetic changes leading to abnormal control of cell proliferation and differentiation. Expansion of an abnormal clone may be related to independence from normal growth factors, insensitivity to normal inhibitory factors, suppression of normal clonal growth, or changes in the immunological or nutritional condition of the host. The haematological picture is of peripheral blood cytopenias: a cellular bone marrow, and functional abnormalities of erythroid, myeloid, and megakaryocytic cells. In most cases marrow cells have an abnormal DNA content, often with disturbances of the cell cycle: an abnormal karyotype is common in premalignant clones. Growth abnormalities of erythroid or granulocyte-macrophage progenitors are common in marrow cultures, and lineage specific surface membrane markers indicate aberrations of differentiation. Progression of the disorder may occur through clonal expansion or through clonal evolution with a greater degree of malignancy. Current attempts to influence abnormal growth and differentiation have had only limited success. Clinical recognition of the syndrome depends on an acute awareness of the signs combined with the identification of clonal and functional abnormalities. PMID:2999194

  19. Intumescent Coatings as Fire Retardants

    NASA Technical Reports Server (NTRS)

    Parker, J. A.; Fohlen, G. M.; Sawko, P. M.; Fish, R. H.

    1970-01-01

    The development of fire-retardant coatings to protect surfaces which may be exposed to fire or extreme heat is a subject of intense interest to many industries. A fire-retardant paint has been developed which represents a new chemical approach for preparing intumescent coatings, and potentially, is very important to fire-prevention authorities. The requirements for a superior coating include ease of application, suitability to a wide variety of surfaces and finishes, and stability over an extended period of time within a broad range of ambient temperature and humidity conditions. These innovative coatings, when activated by the heat of a fire, react to form a thick, low-density, polymeric coating or char layer. Water vapor and sulphur dioxide are released during the intumescent reaction. Two fire-protection mechanisms thus become available: (1) the char layer retards the flow of heat, due to the extremely low thermal conductivity; and (2) water vapor and sulfur dioxide are released, providing fire quenching properties. Still another mechanism functions in cases where the char, by virtue of its high oxidation resistance and low thermal conductivity, reaches a sufficiently high temperature to re-radiate much of the incident heat load. The coatings consist of dispersions of selective salts of a nitro-amino-arornatic compound. Specifically, para-nitroaniline bisulfate and the ammonium salt of para-nitroaniline-ortho sulphuric acid (2-amino-5-nitrobenzenesulphuric acid) are used. Suitable vehicles are cellulose nitrate of lacquer grade, a nitrite-phenolic modified rubber, or epoxy-polysulfide copolymer. Three separate formulations have been developed. A solvent is usually employed, such as methylethyl ketone, butyl acetate, or toluene, which renders the coatings suitably thin and which evaporates after the coatings are applied. Generally, the intumescent material is treated as insoluble in the vehicle, and is ground and dispersed in the vehicle and solvent like an

  20. Epidemiological issues in mental retardation.

    PubMed

    Fryers, T

    1987-12-01

    The basic epidemiological issues have not changed fundamentally in 30 years but emphases are different. Clarity of concept and definition is essential; we need several definitions for different purposes, and should distinguish global criteria defining groups in some way specifically 'retarded' and partial criteria defining groups not exclusive to retardation. Of global definitions, we can distinguish Intellectual Impairment based on IQ, Learning Disability based on educational criteria, and Mental Handicap or Retardation based on service or administrative criteria. The first and second may be co-terminous for children. The first and third are usually co-terminous below a certain IQ level, conventionally 50, as SII and SMH/R. This is not so for higher ability groups: MII and MMR are conceived and defined differently, and suit different research purposes. There may be much unknown need because there have been so few studies of total IQ defined groups above 50. Although organic and psychological factors are very important, the study of MMR needs to recognize its primarily social nature, reflecting determinants of selection into MMR status in legal, organizational and professional structures, activities and attitudes characteristic of particular communities and cultures. If the primary focus is on aetiological factors, natural history, and preventive possibilities, study group should be aetiologically defined and preferably not limited to MR. The same applies to specific impairments, disabilities, diseases, behaviours and disadvantages. The services are also susceptible to epidemiological approaches, descriptive, analytic, interventionist and evaluative, but little is yet available on agency structure and function, professional activities, attitudes and training, legal contexts, and financial constraints. Rigorous outcome studies would greatly benefit rapidly developing services. We know quite a lot about the distribution and associations of SII/SMR, though more is

  1. Identifying Depression in Students with Mental Retardation.

    ERIC Educational Resources Information Center

    Stough, Laura M.; Baker, Lynn

    1999-01-01

    Offers guidelines to teachers for identifying depression in students with mental retardation. Discusses prevalence and symptoms of depression, causes of depression, difficulty of diagnosis in students with mental retardation, detecting symptoms in the classroom, treatment of depression, and psychological services. Inserts list ideas for helping…

  2. Teaching Language Arts to Mentally Retarded Children.

    ERIC Educational Resources Information Center

    Thomas, Janet K.

    Suggestions are made for teaching language arts to mentally retarded children. The nature of language arts, the effect of mental retardation on the learning of language arts, and the need for home-school cooperation are treated. Also described are language arts areas, the school program, methods of beginning instruction, speech training,…

  3. Arm Tremor, Tardive Dyskinesia, and Mental Retardation.

    ERIC Educational Resources Information Center

    van Emmerik, R. E. A.; And Others

    1993-01-01

    The arm tremor of adults (n=32) diagnosed as having mental retardation and/or tardive dyskinesia was examined through an analysis of the acceleration properties of several arm postures. The degree of arm acceleration was increased in all subjects compared to a control group without mental retardation. Effects of neuroleptic medication were noted.…

  4. Innovations in Vocational Rehabilitation and Mental Retardation.

    ERIC Educational Resources Information Center

    Ayers, George E., Ed.

    Conference proceedings of the Vocational Rehabilitation Subdivision Meetings held at the American Association on Mental Deficiency contain discussions of innovative aspects of vocational rehabilitation and mental retardation. In the area of training rehabilitation counselors, George Baroff describes the Mental Retardation Training Institute in…

  5. Political Philosophy and the Mentally Retarded.

    ERIC Educational Resources Information Center

    Stanovich, Keith E.

    The effects of Social Darwinism, eugenics, and contemporary political conservatism on the status of advocacy efforts for the mentally retarded are reviewed. Provided are historical sketches of Social Darwinism, which viewed the retarded as members of an inferior race, and eugenics, which argued for sterilization of the "genetically unfit". The…

  6. Retarded Children of the Poor: A Casebook.

    ERIC Educational Resources Information Center

    Kirkland, Majorie H.

    Written for welfare and social workers, the publication concerns families which have problems of retardation, usually mild or borderline, and which are heavily represented on welfare rolls. A brief discussion of retardation and family and child welfare services is followed by a list of suggested readings dealing with social and child welfare…

  7. Assertiveness Training and the Mentally Retarded.

    ERIC Educational Resources Information Center

    Granat, Jay P.

    1978-01-01

    This article reviews some of the basic principles of assertiveness training and explains the application of this treatment to the habilitation of mentally retarded adults. It presents qualitative data regarding the value of assertiveness training in a counseling group of mentally retarded persons and proposes several guidelines for counselors.…

  8. Body Awareness in Children with Mental Retardation

    ERIC Educational Resources Information Center

    Simons, Johan; Dedroog, Inge

    2009-01-01

    The body awareness of 124 toddlers with mental retardation and of 124 children developing normally matched to them on age and gender was examined. Twenty-nine of the children with mental retardation were diagnosed as Down syndrome (DS). The "Pointing and Naming" Test of Berges and Lezine [Berges, J., & Lezine, I. (1978). "Test d'imitation de…

  9. Mental Retardation: Update 2002. ERIC Digest.

    ERIC Educational Resources Information Center

    Hourcade, Jack

    This digest provides an overview of mental retardation in children and adults. It begins by discussing the definition of mental retardation and the three components that are required for an accurate diagnosis: an IQ score of approximately 70 or below, a determination of deficits in adaptive behavior, and origins of the disability prior to age 18.…

  10. UNDERSTANDING AND HELPING THE RETARDED READER.

    ERIC Educational Resources Information Center

    STRANG, RUTH, ED.

    THE PROCEEDINGS OF A 1962 STATEWIDE ARIZONA CONFERENCE ON READING DEVELOPMENT AND READING DIFFICULTIES INCLUDE 15 PAPERS. ARTICLES ON THE ABLE RETARDED READER ARE "UNDERSTANDING THE ABLE RETARDED READER" BY HELEN M. ROBINSON, AND "CLASSROOM PROCEDURES" BY ROSEMARY YOAKUM. PAPERS ON EMOTIONALLY DISTURBED CHILDREN ARE "IDENTIFICATION OF EMOTIONAL…

  11. Residential Facilities for the Mentally Retarded.

    ERIC Educational Resources Information Center

    Baumeister, Alfred A., Ed.; Butterfield, Earl, Ed.

    The handbook on residential institutions, for professionals and students in the field of mental retardation, attempts to interpret the institution as a part of the culture which it serves, avoiding emotional responses but suggesting formulas for change. Characteristics of contemporary institutions for the mentally retarded are examined and…

  12. Mental Retardation's Two Cultures of Behavioral Research.

    ERIC Educational Resources Information Center

    Hodapp, Robert M.; Dykens, Elisabeth M.

    1994-01-01

    This survey of nine journals identified two distinct cultures in mental retardation research: classification by level of retardation (usually by psychologists and special educators) or etiology (usually by geneticists and psychiatric researchers). The paper discusses varied effects that genetic etiology may have on behavior, issues in reconciling…

  13. Flame retardant cotton based highloft nonwovens

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Flame retardancy has been a serious bottleneck to develop cotton blended very high specific volume bulky High loft fabrics. Alternately, newer approach to produce flame retardant cotton blended High loft fabrics must be employed that retain soft feel characteristics desirable of furnishings. Hence, ...

  14. Teaching Physical Education to Mentally Retarded Children.

    ERIC Educational Resources Information Center

    Davis, Patricia A.

    Methods for teaching physical education activities and skills to mentally retarded children are presented. General objectives are listed and the physical education program is outlined. Hints are offered for teaching the retarded child; and basic skills and rhythms are described. The following are then described; rhythm games, a volleyball unit and…

  15. A Case of Pseudo-Retardation.

    ERIC Educational Resources Information Center

    Stott, D. H.

    Review of a case study of a 4-year-old girl who assumed the role of a retardate reveals that the girl probably suffered multiple congenital impairments of a minor character that affected the central nervous system and the structures governing social behavior and maturation. The stated basis for pseudo-retardation is the person's ability to…

  16. Poverty and Mental Retardation: A Causal Relationship.

    ERIC Educational Resources Information Center

    Hurley, Rodger L.

    The incidence of mental retardation among the poor and the reasons for such high prevalence are the focus of the text which is based largely on the state of New Jersey. Mental retardation is viewed as a social pathology which thrives in the ghetto; the effects of poverty and racial prejudice are explored as are the assessment of intelligence and…

  17. Counseling the Mentally Retarded: A Psychoeducational Perspective.

    ERIC Educational Resources Information Center

    Spragg, Paul A.

    The paper suggests that a cognitive or psychoeducational perspective is valuable in counseling mentally retarded individuals. Psychoeducational considerations in pretreatment assessment, with an emphasis on process rather than product, are noted; and it is explained that counseling of mentally retarded persons can be enhanced through the use of…

  18. Noncitizen: Plight of the Mentally Retarded

    ERIC Educational Resources Information Center

    Skarnulis, Ed

    1974-01-01

    Mentally retarded citizens have been denied their human and civil rights, not only by the public, but by professionals--including social workers. The author claims that most programs for the mentally retarded are, at best, dehumanizing. Professionals have an ethical obligation to refuse to refer children to such programs. (Author)

  19. Computational Errors of Mentally Retarded Students.

    ERIC Educational Resources Information Center

    Janke, Robert W.

    1980-01-01

    Examined computational errors made by educable mentally retarded students on the arithmetic subtest of the Wide Range Achievement Test. Retarded students had a lower percent of grouping and inappropriate inversion errors and a higher percent of incorrect operation errors than regular students had in Engelhardt's study. (Author)

  20. Care Of The Mentally Retarded

    PubMed Central

    Jacobs, J.

    1979-01-01

    Mental retardation is a clinical syndrome, not an intellectual defect or brain disease per se. As such, physicians should not participate in the downgrading labelling of moron, idiot and imbecile. Such labelled people are difficult to relate to and this results in the concept of 'nil expectations' in which the whole of society participates. Maladaptation in this syndrome is more related to poor environmental input than to basic organic defect, and is a family problem. The family doctor is in an ideal situation to help the family handle the problems of anger, shame, guilt, rejection. If aware of his own feelings, he should also be the coordinator of the physical needs of the child and the alternatives available for maximal input. Imagesp1344-a PMID:21297810

  1. Expanding Concepts in Mental Retardation; Scientific Symposium of the Joseph P. Kennedy, Jr., Foundation (3rd, Boston, Massachusetts, 1966).

    ERIC Educational Resources Information Center

    Jervis, George A., Ed.

    The genetics of mental retardation are discussed in terms of geographical isolates, prospects for prevention of trisomic conditions, population genetics, and cytogenetics of Down's syndrome; problems of neurogenesis described are anabolic pathways of galactose and glucose metabolism, abnormal cell migrations in developing brains, and genetic…

  2. Toward a positive psychology of mental retardation.

    PubMed

    Dykens, Elisabeth M

    2006-04-01

    Researchers and practitioners alike have long focused on the external life conditions, adaptive behavior, and inclusion of persons with mental retardation. Using breakthroughs in positive psychology, this article proposes a new research agenda focused on the positive, internal states of those with mental retardation. It shows how major movements in the mental retardation field--quality of life, dual diagnosis, personality motivation, and families--have succeeded in some arenas but failed to address happiness and well-being. Examples of happiness--of positive emotions, flow, strengths, and virtues--are offered in people with genetic causes of mental retardation. Complexities related to etiology, measurement, flow, and a meaningful life are described, as is the vital role that mental retardation can play in the emerging science of positive psychology. PMID:16719637

  3. Abnormal ferrite in hyper-eutectoid steels

    SciTech Connect

    Chairuangsri, T.; Edmonds, D.V.

    2000-04-19

    The microstructural characteristics of ultra-high carbon hyper-eutectoid Fe-C and Fe-C-Cu experimental steels have been examined after isothermal transformation in a range just beneath the eutectoid temperature. Particular attention was paid to the formation of so-called abnormal ferrite, which refers to coarse ferrite grains which can form, in hyper-eutectoid compositions, on the pro-eutectoid cementite before the pearlite reaction occurs. Thus it is confirmed that the abnormal ferrite is not a result of pearlite coarsening, but of austenite decomposition before the conditions for coupled growth of pearlite are established. The abnormal ferrite formed on both allotriomorphic and Widmanstaetten forms of pro-eutectoid cementite, and significantly, it was observed that the pro-eutectoid cementite continued to grow, despite being enclosed by the abnormal ferrite. Under certain conditions this could lead to the eventual formation of substantially reduced amounts of pearlite. Thus, a model for carbon redistribution that allows the proeutectoid cementite to thicken concurrently with the abnormal ferrite is presented. The orientation relationships between the abnormal ferrite and pro-eutectoid cementite were also determined and found to be close to those which have been reported between pearlitic ferrite and pearlitic cementite.

  4. Morphological abnormalities in elasmobranchs.

    PubMed

    Moore, A B M

    2015-08-01

    A total of 10 abnormal free-swimming (i.e., post-birth) elasmobranchs are reported from The (Persian-Arabian) Gulf, encompassing five species and including deformed heads, snouts, caudal fins and claspers. The complete absence of pelvic fins in a milk shark Rhizoprionodon acutus may be the first record in any elasmobranch. Possible causes, including the extreme environmental conditions and the high level of anthropogenic pollution particular to The Gulf, are briefly discussed. PMID:25903257

  5. Chromosome abnormalities in glioma

    SciTech Connect

    Li, Y.S.; Ramsay, D.A.; Fan, Y.S.

    1994-09-01

    Cytogenetic studies were performed in 25 patients with gliomas. An interesting finding was a seemingly identical abnormality, an extra band on the tip of the short arm of chromosome 1, add(1)(p36), in two cases. The abnormality was present in all cells from a patient with a glioblastoma and in 27% of the tumor cells from a patient with a recurrent irradiated anaplastic astrocytoma; in the latter case, 7 unrelated abnormal clones were identified except 4 of those clones shared a common change, -Y. Three similar cases have been described previously. In a patient with pleomorphic astrocytoma, the band 1q42 in both homologues of chromosome 1 was involved in two different rearrangements. A review of the literature revealed that deletion of the long arm of chromosome 1 including 1q42 often occurs in glioma. This may indicate a possible tumor suppressor gene in this region. Cytogenetic follow-up studies were carried out in two patients and emergence of unrelated clones were noted in both. A total of 124 clonal breakpoints were identified in the 25 patients. The breakpoints which occurred three times or more were: 1p36, 1p22, 1q21, 1q25, 3q21, 7q32, 8q22, 9q22, 16q22, and 22q13.

  6. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  7. [Case of intrauterine retardation and fetal death during labor].

    PubMed

    Frundeva, B; Dimitrova, V; Museva, A; Dimitrov, A; Zlatkov, V

    2014-01-01

    The case concerns to a 37 years old pregnant woman with a history of three miscarriages. Ultrasound biometry in early pregnancy corresponds to the term calculated according the last menstrual period (LMP). At 37 week of gestation was determined retardation of 5 weeks. Doppler velocimetry and quantity of amniotic fluid were in normal ranges and the pregnant refused hospitalization. She was admitted to the hospital three days after the appointed term without uterine contractions. The fetal ultrasound biometry meets 33 weeks and the Doppler examination of a. umbilicalis found resistance index (RI) of the upper limit of normal. The cardiotocography record shows: baseline fetal heart rate--143 beats/min, good variability and reactivity. There was one deceleration for 3 minutes, and then the recording returns to normal. Re-monitoring after 30 minutes establishes of a periodic decelerations and a tendency to bradycardia with reserved variability. At the start of the emergency Cesarean Section fetal heart beats are single. The delivered babe was with Apgar O. The reanimation was not successful and the fetus died. From the autopsy signs of severe asphyxia. In conclusion, it can be assumed that in strongly retarded fetuses, cardiotocography recording and Doppler velosimetry are not sufficiently reliable methods for continued monitoring. In late-onset and severe intrauterine growth retardation (IUGR) desirable delivery time is after reaching biological maturity at 36-37 week. PMID:25558672

  8. Postnatal Organic Causes of Mental Retardation

    PubMed Central

    Hinton, G. G.

    1962-01-01

    A study of 1137 retarded children from Western Ontario revealed 129 (11.3%) in whom retardation was first noted after a specific postnatal event. Eighty-three of these were boys. The most common cause of postnatal cerebral injury in this series was a syndrome of unknown etiology characterized by the sudden onset of fever, convulsions and coma which occurred in 45 patients. The nature of this syndrome is discussed and the necessity for early treatment emphasized. Other postnatal causes of retardation are classified according to frequency, as encephalitis, accidents, meningitis and a miscellaneous group consisting of epilepsy and tumours. PMID:13907577

  9. Biodegradation of brominated and organophosphorus flame retardants.

    PubMed

    Waaijers, Susanne L; Parsons, John R

    2016-04-01

    Brominated flame retardants account for about 21% of the total production of flame retardants and many of these have been identified as persistent, bioaccumulative and toxic. Nevertheless, debromination of these chemicals under anaerobic conditions is well established, although this can increase their toxicity. Consequently, the production and use of these chemicals has been restricted and alternative products have been developed. Many of these are brominated compounds and share some of the disadvantages of the chemicals they are meant to replace. Therefore, other, nonbrominated, flame retardants such as organophosphorus compounds are also being used in increasing quantities, despite the fact that knowledge of their biodegradation and environmental fate is often lacking. PMID:26748263

  10. A polymeric flame retardant additive for rubbers

    SciTech Connect

    Ghosh, S.N.; Maiti, S.

    1993-12-31

    Synthesis of a polyphosphonate by the interfacial polymerization of bisphenol-A (BPA) and dichloro-phenyl phosphine oxide (DCPO) using cetyltrimethyl ammonium chloride (TMAC) as phase transfer catalyst (PTC) was reported. The polyphosphonate was characterized by elemental analysis, IR, TGA, DSC and 1H-NMR spectroscopy. The flame retardancy of the polymer was done by OI study. The polymer was used as a fire retardant additive to rubbers such as natural rubber (NR), styrene-butadiene rubber(SBR), nitrile rubber (NBR) and chloroprene rubber (CR). The efficiency of the fire retardant property of this additive was determined by LOI measurements of the various rubber samples.

  11. Abnormal pressures as hydrodynamic phenomena

    USGS Publications Warehouse

    Neuzil, C.E.

    1995-01-01

    So-called abnormal pressures, subsurface fluid pressures significantly higher or lower than hydrostatic, have excited speculation about their origin since subsurface exploration first encountered them. Two distinct conceptual models for abnormal pressures have gained currency among earth scientists. The static model sees abnormal pressures generally as relict features preserved by a virtual absence of fluid flow over geologic time. The hydrodynamic model instead envisions abnormal pressures as phenomena in which flow usually plays an important role. This paper develops the theoretical framework for abnormal pressures as hydrodynamic phenomena, shows that it explains the manifold occurrences of abnormal pressures, and examines the implications of this approach. -from Author

  12. [Nutritional abnormalities in chronic obstructive pulmonary disease].

    PubMed

    Gea, Joaquim; Martínez-Llorens, Juana; Barreiro, Esther

    2014-07-22

    Nutritional abnormalities are associated with chronic obstructive pulmonary disease with a frequency ranging from 2 to 50%, depending on the geographical area and the study design. Diagnostic tools include anthropometry, bioelectrical impedance, dual energy radioabsortiometry and deuterium dilution, being the body mass and the lean mass indices the most frequently used parameters. While the most important consequences of nutritional abnormalities are muscle dysfunction and exercise limitation, factors implicated include an imbalance between caloric intake and consumption, and between anabolic and catabolic hormones, inflammation, tobacco smoking, poor physical activity, hypoxemia, some drugs and aging/comorbidities. The most important molecular mechanism for malnutrition associated with chronic obstructive pulmonary disease appears to be the mismatching between protein synthesis and breakdown. Among the therapeutic measures proposed for these nutritional abnormalities are improvements in lifestyle and nutritional support, although the use of anabolic drugs (such as secretagogues of the growth hormone) offers a new therapeutic strategy. PMID:24054776

  13. Engineering Flame Retardant Biodegradable Nanocomposites

    NASA Astrophysics Data System (ADS)

    He, Shan; Yang, Kai; Guo, Yichen; Zhang, Linxi; Pack, Seongchan; Davis, Rachel; Lewin, Menahem; Ade, Harald; Korach, Chad; Kashiwagi, Takashi; Rafailovich, Miriam

    2013-03-01

    Cellulose-based PLA/PBAT polymer blends can potentially be a promising class of biodegradable nanocomposites. Adding cellulose fiber reinforcement can improve mechanical properties of biodegradable plastics, but homogeneously dispersing hydrophilic cellulose in the hydrophobic polymer matrix poses a significant challenge. We here show that resorcinol diphenyl phosphates (RDP) can be used to modify the surface energy, not only reducing phase separation between two polymer kinds but also allowing the cellulose particles and the Halloysite clay to be easily dispersed within polymer matrices to achieve synergy effect using melt blending. Here in this study we describe the use of cellulose fiber and Halloysite clay, coated with RDP surfactant, in producing the flame retardant polymer blends of PBAT(Ecoflex) and PLA which can pass the stringent UL-94 V0 test. We also utilized FTIR, SEM and AFM nanoindentation to elucidate the role RDP plays in improving the compatibility of biodegradable polymers, and to determine structure property of chars that resulted in composites that could have optimized mechanical and thermal properties. Supported by Garcia Polymer Center and NSF Foundation.

  14. Feeling Abnormal: Simulation of Deviancy in Abnormal and Exceptionality Courses.

    ERIC Educational Resources Information Center

    Fernald, Charles D.

    1980-01-01

    Describes activity in which student in abnormal psychology and psychology of exceptional children classes personally experience being judged abnormal. The experience allows the students to remember relevant research, become sensitized to the feelings of individuals classified as deviant, and use caution in classifying individuals as abnormal.…

  15. Abnormal human sex chromosome constitutions

    SciTech Connect

    1993-12-31

    Chapter 22, discusses abnormal human sex chromosome constitution. Aneuploidy of X chromosomes with a female phenotype, sex chromosome aneuploidy with a male phenotype, and various abnormalities in X chromosome behavior are described. 31 refs., 2 figs.

  16. Exercises to Improve Gait Abnormalities

    MedlinePlus

    ... Home About iChip Articles Directories Videos Resources Contact Exercises to Improve Gait Abnormalities Home » Article Categories » Exercise and Fitness Font Size: A A A A Exercises to Improve Gait Abnormalities Next Page The manner ...

  17. Brominated Flame Retardants and Perfluorinated Chemicals

    EPA Science Inventory

    Brominated flame retardants (BFRs) and perfluorinated chemicals (PFCs) belong to a large class of chemicals known as organohalogens. It is believed that both BFRs and PFCs saved lives by reducing flammability of materials commonly used and bactericidal (biocidal) properties. Thes...

  18. Video Tape and the Mentally Retarded

    ERIC Educational Resources Information Center

    Weisbord, H. F.

    1972-01-01

    Three uses of video tape recordings with the mentally retarded; discussed briefly are staff training or teacher education, parental involvement in the child's education, and therapeutic uses by psychiatrists and psychologists. (CB)

  19. Job Enrichment and the Mentally Retarded Worker.

    ERIC Educational Resources Information Center

    Morris, Jerry L.; And Others

    1981-01-01

    The effect of job enrichment on the production rate of 14 mentally retarded adult workers was evaluated. Job enrichment led to increases in standard rates of production for high IQ Ss and lower rates for low IQ Ss. (Author)

  20. Sterilization of Persons with Mental Retardation.

    ERIC Educational Resources Information Center

    Elkins, Thomas E.; Andersen, H. Frank

    1992-01-01

    This article examines the historical, legal, and ethical concerns regarding sterilization for persons with mental retardation and offers guidelines to help counsel individuals with disabilities or their families regarding decision making about sterilization. (DB)

  1. Retarded Children at Camp with Normal Children

    ERIC Educational Resources Information Center

    Flax, Norman; Peters, Edward N.

    1969-01-01

    Statistical analysis of data from written forms and scales (designed to measure children's behavior in groups), observations, and interviews indicated that many educalble mentally retarded children can participate successfully in camp activities with normal children. (DR)

  2. Retardation Measurements of Infrared PVA Wave plate

    NASA Astrophysics Data System (ADS)

    Sun, Y.; Z, H.; W, D.; D, Y.; Z, Z.; S, J.

    The wave plate made of Polyvinyl Alcohol PVA plastic film has several advantages such as its lower cost and insensitivity to temperature and incidence angle so it has been used in the Solar Multi-Channel Telescope SMCT in China But the important parameter retardations of PVA wave plates in the near infrared wavelength have never been provided In this paper a convenient and high precise instrument to get the retardations of discrete wavelengths or a continuous function of wavelength in near infrared is developed In this method the retardations of wave plates have been determined through calculating the maximum and minimum of light intensity The instrument error has been shown Additionally we can get the continuous direction of wavelength retardations in the ultraviolet visible or infrared spectral in another way

  3. PCBs, PBBs and Brominated Flame Retardants

    EPA Science Inventory

    This chapter introduces selected organohalogen chemicals such as polychlorinated biphenyls (PCB5), polychiorinated biphenyls (PBBs), and brominated flame retardants (BFRs) with emphasis on the background, physicochemical properties, environmental levels, health effects and possib...

  4. Anterior cervical hypertrichosis and mental retardation.

    PubMed

    Thienpont, Bernard; Vermeesch, Joris; Devriendt, Koen

    2006-07-01

    Anterior cervical hypertrichosis or hairy throat is a rare dysmorphic sign described in a total of 19 patients so far. The association with a number of additional features has been reported, including mental retardation. We report on another patient with this condition who also had moderate mental retardation, mildly dysmorphic facial features, obesity, hypermetropia and additional hair anomalies (low dorsal hair line on the neck, lumbosacral hypertrichosis). Karyotype and array comparative genomic hybridization analysis at 1 Mb resolution were normal. PMID:16760744

  5. Realidades Acerca de la Deficiencia Mental = Facts about Mental Retardation.

    ERIC Educational Resources Information Center

    Texas State Dept. of Mental Health and Mental Retardation, Austin.

    This document consists of two booklets, one in Spanish and one in English, both covering the same text: the characteristics of mentally retarded individuals, the prevalence of mentally retarded persons in Texas, causes of mental retardation, prevention possibilities, and services available to mentally retarded persons in Texas. A distinction is…

  6. Trends in Classification Usage in the Mental Retardation Literature.

    ERIC Educational Resources Information Center

    Taylor, Ronald L.; Kaufmann, Steve

    1991-01-01

    A total of 685 articles in "Mental Retardation,""American Journal of Mental Deficiency," and "American Journal on Mental Retardation" from 1980 through 1989 were examined. The mental retardation classification system developed by the American Association on Mental Retardation was used in over 50 percent of the articles, whereas the American…

  7. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report.

    PubMed

    Tos, T; Alp, M Y; Karacan, C D; Andiran, N; Colakoglu, E Y

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before. PMID:25059019

  8. Spirometric abnormalities among welders

    SciTech Connect

    Rastogi, S.K.; Gupta, B.N.; Husain, T.; Mathur, N.; Srivastava, S. )

    1991-10-01

    A group of manual welders age group 13-60 years having a mean exposure period of 12.4 {plus minus} 1.12 years were subjected to spirometry to evaluate the prevalence of spirometric abnormalities. The welders showed a significantly higher prevalence of respiratory impairment than that observed among the unexposed controls as a result of exposure to welding gases which comprised fine particles of lead, zinc, chromium, and manganese. This occurred despite the lower concentration of the pollutants at the work place. In the expose group, the smoking welders showed a prevalence of respiratory impairment significantly higher than that observed in the nonsmoking welders. The results of the pulmonary function tests showed a predominantly restrictive type of pulmonary impairment followed by a mixed ventilatory defect among the welders. The effect of age on pulmonary impairment was not discernible. Welders exposed for over 10 years showed a prevalence of respiratory abnormalities significantly higher than those exposed for less than 10 years. Smoking also had a contributory role.

  9. Prenatal ethanol exposure-induced adrenal developmental abnormality of male offspring rats and its possible intrauterine programming mechanisms.

    PubMed

    Huang, Hegui; He, Zheng; Zhu, Chunyan; Liu, Lian; Kou, Hao; Shen, Lang; Wang, Hui

    2015-10-01

    Fetal adrenal developmental status is the major determinant of fetal tissue maturation and offspring growth. We have previously proposed that prenatal ethanol exposure (PEE) suppresses fetal adrenal corticosterone (CORT) synthesis. Here, we focused on PEE-induced adrenal developmental abnormalities of male offspring rats before and after birth, and aimed to explore its intrauterine programming mechanisms. A rat model of intrauterine growth retardation (IUGR) was established by PEE (4g/kg·d). In PEE fetus, increased serum CORT concentration and decreased insulin-like growth factor 1 (IGF1) concentration, with lower bodyweight and structural abnormalities as well as a decreased Ki67 expression (proliferative marker), were observed in the male fetal adrenal cortex. Adrenal glucocorticoid (GC)-metabolic activation system was enhanced while gene expression of IGF1 signaling pathway with steroidogenic acute regulatory protein (StAR), 3β-hydroxysteroid dehydrogenase (3β-HSD) was decreased. Furthermore, in the male adult offspring of PEE, serum CORT level was decreased but IGF1 was increased with partial catch-up growth, and Ki67 expression demonstrated no obvious change. Adrenal GC-metabolic activation system was inhibited, while IGF1 signaling pathway and 3β-HSD was enhanced with the steroidogenic factor 1 (SF1), and StAR was down-regulated in the adult adrenal. Based on these findings, we propose a "two-programming" mechanism for PEE-induced adrenal developmental toxicity: "the first programming" is a lower functional programming of adrenal steroidogenesis, and "the second programming" is GC-metabolic activation system-related GC-IGF1 axis programming. PMID:26188107

  10. Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

    PubMed Central

    Richardson, R J; Kirk, J M

    1990-01-01

    Eight children (four boys and four girls) with extreme failure to thrive, dysmorphic features, developmental delay, hypoparathyroidism, and abnormal skeletal survey were studied. They were the products of seven consanguinous marriages, two of the patients being brothers. In the remaining six families, a further four children had affected siblings who had died in infancy. When assessed the children were aged 0.47-12.8 years; SD scores were less than -2 for height, weight, and head circumference in all patients. The children had identical facies with deep set eyes, depressed nasal bridge with beaked nose, long philtrum, thin upper lip, micrognathia, and large floppy earlobes. They were all developmentally retarded. The following abnormalities were found on investigation: hypocalcaemia in all (of whom six of seven had hypoparathyroidism), medullary stenosis and other skeletal survey defects in seven of the eight children, and reduced numbers of T cell subsets in four of four tested. We believe that these children represent a new, as yet undescribed genetically determined syndrome. Images Figure 2 PMID:1701077

  11. Intrauterine radiation exposures and mental retardation

    SciTech Connect

    Miller, R.W.

    1988-08-01

    Small head size and mental retardation have been known as effects of intrauterine exposure to ionizing radiation since the 1920s. In the 1950s, studies of Japanese atomic-bomb survivors revealed that at 4-17 wk of gestation, the greater the dose, the smaller the brain (and head size), and that beginning at 0.5 Gy (50 rad) in Hiroshima, mental retardation increased in frequency with increasing dose. No other excess of birth defects was observed. Otake and Schull (1984) pointed out that the period of susceptibility to mental retardation coincided with that for proliferation and migration of neuronal elements from near the cerebral ventricles to the cortex. Mental retardation could be the result of interference with this process. Their analysis indicated that exposures at 8-15 wk to 0.01-0.02 Gy (1-2 rad) doubled the frequency of severe mental retardation. This estimate was based on small numbers of mentally retarded atomic-bomb survivors. Although nuclear accidents have occurred recently, new cases will hopefully be too rare to provide further information about the risk of mental retardation. It may be possible, however, to learn about lesser impairment. New psychometric tests may be helpful in detecting subtle deficits in intelligence or neurodevelopmental function. One such test is PEERAMID, which is being used in schools to identify learning disabilities due, for example, to deficits in attention, short- or long-term memory, or in sequencing information. This and other tests could be applied in evaluating survivors of intrauterine exposure to various doses of ionizing radiation. The results could change our understanding of the safety of low-dose exposures.

  12. INSTRUCTIONAL MATERIALS AND METHODS FOR THE DISADVANTAGED PUPIL WHO IS RETARDED IN READING.

    ERIC Educational Resources Information Center

    KRIPPNER, STANLEY

    TEN PROGRAMS REVIEWED IN THIS PAPER ILLUSTRATE WHAT CAN BE DONE FOR CULTURALLY DISADVANTAGED RETARDED READERS. THE MONTESSORI APPROACH EMPHASIZES INTRINSIC MOTIVATION AND USES SENSE-STIMULATING MATERIALS AND DEVELOPMENTAL ACTIVITIES FOR PERCEPTUAL AND COGNITIVE GROWTH. THE BANNEKER PROGRAM ENRICHES ITS INTENSIVE PRESCHOOL PROGRAM WITH EXPERIENCES…

  13. Curriculum Guide: Educable Mentally Retarded, Senior High Program; Little Rock Public Schools.

    ERIC Educational Resources Information Center

    Arkansas State Dept. of Education, Little Rock. Special Education Section.

    Emphasizing social and economic growth of the educable retarded secondary student, provision is made for lesson and unit plans which give information on vocational and educational opportunities and which develop habits, attitudes and skills necessary for the individual to hold a job. The basic skills to be taught, books and materials useful in…

  14. Eye movement abnormalities.

    PubMed

    Moncayo, Jorge; Bogousslavsky, Julien

    2012-01-01

    Generation and control of eye movements requires the participation of the cortex, basal ganglia, cerebellum and brainstem. The signals of this complex neural network finally converge on the ocular motoneurons of the brainstem. Infarct or hemorrhage at any level of the oculomotor system (though more frequent in the brain-stem) may give rise to a broad spectrum of eye movement abnormalities (EMAs). Consequently, neurologists and particularly stroke neurologists are routinely confronted with EMAs, some of which may be overlooked in the acute stroke setting and others that, when recognized, may have a high localizing value. The most complex EMAs are due to midbrain stroke. Horizontal gaze disorders, some of them manifesting unusual patterns, may occur in pontine stroke. Distinct varieties of nystagmus occur in cerebellar and medullary stroke. This review summarizes the most representative EMAs from the supratentorial level to the brainstem. PMID:22377853

  15. Growth

    NASA Astrophysics Data System (ADS)

    Waag, Andreas

    This chapter is devoted to the growth of ZnO. It starts with various techniques to grow bulk samples and presents in some detail the growth of epitaxial layers by metal organic chemical vapor deposition (MOCVD), molecular beam epitaxy (MBE), and pulsed laser deposition (PLD). The last section is devoted to the growth of nanorods. Some properties of the resulting samples are also presented. If a comparison between GaN and ZnO is made, very often the huge variety of different growth techniques available to fabricate ZnO is said to be an advantage of this material system. Indeed, growth techniques range from low cost wet chemical growth at almost room temperature to high quality MOCVD growth at temperatures above 1, 000∘C. In most cases, there is a very strong tendency of c-axis oriented growth, with a much higher growth rate in c-direction as compared to other crystal directions. This often leads to columnar structures, even at relatively low temperatures. However, it is, in general, not straight forward to fabricate smooth ZnO thin films with flat surfaces. Another advantage of a potential ZnO technology is said to be the possibility to grow thin films homoepitaxially on ZnO substrates. ZnO substrates are mostly fabricated by vapor phase transport (VPT) or hydrothermal growth. These techniques are enabling high volume manufacturing at reasonable cost, at least in principle. The availability of homoepitaxial substrates should be beneficial to the development of ZnO technology and devices and is in contrast to the situation of GaN. However, even though a number of companies are developing ZnO substrates, only recently good quality substrates have been demonstrated. However, these substrates are not yet widely available. Still, the situation concerning ZnO substrates seems to be far from low-cost, high-volume production. The fabrication of dense, single crystal thin films is, in general, surprisingly difficult, even when ZnO is grown on a ZnO substrate. However

  16. Reactions to the Labels "Institutionalized" and "Mentally Retarded" by Retarded and Nonretarded Persons.

    ERIC Educational Resources Information Center

    Gibbons, Frederick X.; Gibbons, Barbara N.

    The effects of labels, "mentally retarded" and "institutionalized" on the evaluations and causal attributions of nonretarded persons, and on the social distance preferences of EMR persons, were assessed. In addition, each group was asked to predict the likelihood of a labeled (mentally retarded) or a nonlabeled target person achieving success at a…

  17. Daphnid life cycle responses to new generation flame retardants.

    PubMed

    Waaijers, Susanne L; Bleyenberg, Tanja E; Dits, Arne; Schoorl, Marian; Schütt, Jeroen; Kools, Stefan A E; de Voogt, Pim; Admiraal, Wim; Parsons, John R; Kraak, Michiel H S

    2013-12-01

    Relatively hazardous brominated flame retardants (BFRs) are currently substituted with halogen-free flame retardants (HFFRs). Consequently, information on their persistence, bioaccumulation and toxicity (PBT) is urgently needed. Therefore, we investigated the chronic toxicity to the water flea Daphnia magna of two HFFRs, aluminum diethylphosphinate (ALPI) and 9,10-dihyro-9-oxa-10-phosphaphenanthrene-oxide (DOPO). The toxicity of ALPI increased from a 48 h LC50 of 18 mg L(-1) to a 21 day LC50 value of 3.2 mg L(-1), resulting in an acute-to-chronic ratio of 5.6. This may imply a change in classification from low to moderate toxicity. ALPI also affected sublethal life cycle parameters, with an EC50 of 2.8 mg L(-1) for cumulative reproductive output and of 3.4 mg L(-1) for population growth rate, revealing a nonspecific mode of action. DOPO showed only sublethal effects with an EC50 value of 48 mg L(-1) for cumulative reproductive output and an EC50 value of 73 mg L(-1) for population growth rate. The toxicity of DOPO to D. magna was classified as low and likely occurred above environmentally relevant concentrations, but we identified specific effects on reproduction. Given the low chronic toxicity of DOPO and the moderate toxicity of ALPI, based on this study only, DOPO seems to be more suitable than ALPI for BFR replacement in polymers. PMID:24180581

  18. Reaching the Retarded Through Art.

    ERIC Educational Resources Information Center

    Baumgartner, Bernice B.; Shultz, Joyce B.

    Included in the manual on art are suggestions concerning growth through a good classroom climate, orderly arrangements, displays, and a good visual experience; a view of development through art, concept differentiation, motor and sensory skills, self fulfillment and thought processes, and art as therapy; and the art program itself. The program…

  19. De novo partial duplication 7(q11.2{r_arrow}q21.2) in a dysmorphic, developmentally retarded boy

    SciTech Connect

    Ross, M.; Pinsky, L.; Teebi, A.

    1994-09-01

    Chromosomal abnormalities involving chromosome 7q are rare; we report a case of partial duplication 7q. The propositus was born at 34 weeks by cesarian section, decided because of oligohydramnios, severe intrauterine growth retardation and fetal immobility. At birth, the baby was under the 5th percentile for height, weight and head circumference and had dysmorphic features, including slight asymmetry of the face, bilateral epicanthus, hypoplastic nasal bridge, short globular nose, asymmetrical dysplastic ears, fifth finger clinodactyly, short second and fifth toe. Ultrasound examination showed atrial and ventricular septal defects. At 18 months, the child had a fracture of the femur, secondary to a minor trauma; skeletal X-rays showed generalized osteoporosis and normal healing. The karyotype with GTG-banding showed a de novo partial duplication of the long arm of chromosome 7 (46,XX,dup(7)(q11.23{r_arrow}q21.2)). Fluorescence in situ hybridization with a painting probe specific for chromosome 7 confirmed the intra-chromosomal rearrangement. The patient`s phenotype and his chromosomal abnormality do not match the previously reported cases of partial trisomy 7q. This case confirms the importance of FISH for the delineation of the chromosomal inbalance in structural chromosomal aberrations.

  20. X linked mental retardation: a clinical guide

    PubMed Central

    Raymond, F L

    2006-01-01

    Mental retardation is more common in males than females in the population, assumed to be due to mutations on the X chromosome. The prevalence of the 24 genes identified to date is low and less common than expansions in FMR1, which cause Fragile X syndrome. Systematic screening of all other X linked genes in X linked families with mental retardation is currently not feasible in a clinical setting. The phenotypes of genes causing syndromic and non‐syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis. Secondly, the relative prevalence of genes causing only non‐syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised. Thirdly, the problem of recurrence risk where a molecular genetics diagnosis has not been made and what proportion of the male excess of mental retardation is due to monogenic disorders of the X chromosome are discussed. PMID:16118346

  1. Ictal Cardiac Ryhthym Abnormalities

    PubMed Central

    Ali, Rushna

    2016-01-01

    Cardiac rhythm abnormalities in the context of epilepsy are a well-known phenomenon. However, they are under-recognized and often missed. The pathophysiology of these events is unclear. Bradycardia and asystole are preceded by seizure onset suggesting ictal propagation into the cortex impacting cardiac autonomic function, and the insula and amygdala being possible culprits. Sudden unexpected death in epilepsy (SUDEP) refers to the unanticipated death of a patient with epilepsy not related to status epilepticus, trauma, drowning, or suicide. Frequent refractory generalized tonic-clonic seizures, anti-epileptic polytherapy, and prolonged duration of epilepsy are some of the commonly identified risk factors for SUDEP. However, the most consistent risk factor out of these is an increased frequency of generalized tonic–clonic seizures (GTC). Prevention of SUDEP is extremely important in patients with chronic, generalized epilepsy. Since increased frequency of GTCS is the most consistently reported risk factor for SUDEP, effective seizure control is the most important preventive strategy. PMID:27347227

  2. Abnormal uterine bleeding.

    PubMed

    Whitaker, Lucy; Critchley, Hilary O D

    2016-07-01

    Abnormal uterine bleeding (AUB) is a common and debilitating condition with high direct and indirect costs. AUB frequently co-exists with fibroids, but the relationship between the two remains incompletely understood and in many women the identification of fibroids may be incidental to a menstrual bleeding complaint. A structured approach for establishing the cause using the Fédération International de Gynécologie et d'Obstétrique (FIGO) PALM-COEIN (Polyp, Adenomyosis, Leiomyoma, Malignancy (and hyperplasia), Coagulopathy, Ovulatory disorders, Endometrial, Iatrogenic and Not otherwise classified) classification system will facilitate accurate diagnosis and inform treatment options. Office hysteroscopy and increasing sophisticated imaging will assist provision of robust evidence for the underlying cause. Increased availability of medical options has expanded the choice for women and many will no longer need to recourse to potentially complicated surgery. Treatment must remain individualised and encompass the impact of pressure symptoms, desire for retention of fertility and contraceptive needs, as well as address the management of AUB in order to achieve improved quality of life. PMID:26803558

  3. Parental recognition of developmental abnormalities in autism.

    PubMed

    De Giacomo, A; Fombonne, E

    1998-09-01

    In order to identify factors associated with the early detection and referral of children with pervasive developmental disorders, a sample of 82 consecutive referrals to an outpatient diagnostic service was studied. All children were thoroughly assessed with the Autism Diagnostic Interview (ADI), standardized psychological tests and direct observations. Data from the ADI on the first symptoms to arouse parental concern and on the first professional advice sought were analyzed. The mean age of children was 19.1 months (SD = 9.4) when the parents first became concerned, and the first professional advice was sought when children were 24.1 months old (SD = 11.7). The most common parental concerns were for speech and language development, followed by abnormal socio-emotional response, and medical problem or delay in milestone. In both bivariate and multiple regression analyses, the mean age of children at first parental concern and professional advice was significantly lower in the presence of mental retardation in the child, of an older sibling in the family, and of first parental concerns for medical problem/delay in milestone. More specific autistic behaviours, child's gender, social class and place of residence did not influence the age of recognition of the disorder in this sample. Health visitors and general practitioners were the first professionals contacted by parents. The implications of these findings for early detection and diagnosis of autism are discussed. PMID:9826299

  4. Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

    PubMed Central

    Stevenson, R E; Häne, B; Arena, J F; May, M; Lawrence, L; Lubs, H A; Schwartz, C E

    1997-01-01

    A syndrome with distinctive facies, poor muscle tone, absent deep tendon reflexes, tapered fingers, excessive fingerprint arches, genu valgum and mild-moderate mental retardation has occurred in four males in two generations of a white family of European ancestry. The facies are characterised by square configuration, tented upper lip, and thickening of the helices, upper eyelids, and alae nasi. At birth and at maturity, growth (head circumference, height, weight) of affected males is comparable to or greater than unaffected male sibs. Moderate impairment of cognitive function was documented (IQ scores between 40-51). Carriers show no heterozygote manifestations. This X linked condition appears to be different from other syndromes with mental retardation, although there are certain similarities with the alpha thalassaemia-mental retardation syndrome (ATR-X). Linkage analysis found tight linkage to DXS1166 and DXS995 in Xq13 and Xq21 respectively. Images PMID:9192265

  5. Mutations in the clathrin-assembly gene Picalm are responsible for the hematopoietic and iron metabolism abnormalities in fit1 mice

    PubMed Central

    Klebig, Mitchell L.; Wall, Melissa D.; Potter, Mark D.; Rowe, Erica L.; Carpenter, Donald A.; Rinchik, Eugene M.

    2003-01-01

    Recessive N-ethyl-N-nitrosourea (ENU)-induced mutations recovered at the fitness-1 (fit1) locus in mouse chromosome 7 cause hematopoietic abnormalities, growth retardation, and shortened life span, with varying severity of the defects in different alleles. Abnormal iron distribution and metabolism and frequent scoliosis have also been associated with an allele of intermediate severity (fit14R). We report that fit14R, as well as the most severe fit15R allele, are nonsense point mutations in the mouse ortholog of the human phosphatidylinositol-binding clathrin assembly protein (PICALM) gene, whose product is involved in clathrin-mediated endocytosis. A variety of leukemias and lymphomas have been associated with translocations that fuse human PICALM with the putative transcription factor gene AF10. The Picalmfit1–5R and Picalmfit1–4R mutations are splice-donor alterations resulting in transcripts that are less abundant than normal and missing exons 4 and 17, respectively. These exon deletions introduce premature termination codons predicted to truncate the proteins near the N and C termini, respectively. No mutations in the genes encoding Picalm, clathrin, or components of the adaptor protein complex 2 (AP2) have been previously described in which the suite of disorders present in the Picalmfit1 mutant mice is apparent. These mutants thus provide unique models for exploring how the endocytic function of mouse Picalm and the transport processes mediated by clathrin and the AP2 complex contribute to normal hematopoiesis, iron metabolism, and growth. PMID:12832620

  6. An efficient mono-component polymeric intumescent flame retardant for polypropylene: preparation and application.

    PubMed

    Shao, Zhu-Bao; Deng, Cong; Tan, Yi; Chen, Ming-Jun; Chen, Li; Wang, Yu-Zhong

    2014-05-28

    We found in our previous study that ethylenediamine- or ethanolamine-modified ammonium polyphosphates could be used alone as an intumescent flame retardant for polypropylene (PP), but their flame-retardant efficiency was not very high. In this present work, a novel highly-efficient mono-component polymeric intumescent flame retardant, piperazine-modified ammonium polyphosphate (PA-APP) was prepared. The oxygen index value of PP containing 22 wt % of PA-APP reached 31.2%, which increased by 58.4% compared with that of PP with equal amount of APP, and the vertical burning test (UL-94) could pass V-0 rating. Cone calorimeter (CC) results indicated that PP/PA-APP composite exhibited superior performance compared with PP/APP composite. For PP containing 25 wt % of PA-APP, fire growth rate (FGR) and smoke production rate (SPR) peak were reduced by 86.4% and 78.2%, respectively, compared with PP blended with 25 wt % APP. The relevant flame-retardant mechanism of PA-APP was investigated by Fourier transform infrared spectroscopy etc. The P-N-C structure with the alicyclic amine was formed during the thermal decomposition of piperazine salt (-NH2(+)-O-P-), and the rich P-N-C structure facilitated the formation of stable char layer at the later stage, consequently improving the flame-retardant efficiency of APP. PMID:24742305

  7. Electrocardiograph abnormalities revealed during laparoscopy

    PubMed Central

    Nijjer, Sukhjinder; Dubrey, Simon William

    2010-01-01

    This brief case presents a well patient in whom an electrocardiograph abnormality consistent with an accessory pathway was found during a routine procedure. We present the electrocardiographs, explain the underlying condition, and consider why the abnormality was revealed in this manner. PMID:22419949

  8. Abnormal pressure in hydrocarbon environments

    USGS Publications Warehouse

    Law, B.E.; Spencer, C.W.

    1998-01-01

    Abnormal pressures, pressures above or below hydrostatic pressures, occur on all continents in a wide range of geological conditions. According to a survey of published literature on abnormal pressures, compaction disequilibrium and hydrocarbon generation are the two most commonly cited causes of abnormally high pressure in petroleum provinces. In young (Tertiary) deltaic sequences, compaction disequilibrium is the dominant cause of abnormal pressure. In older (pre-Tertiary) lithified rocks, hydrocarbon generation, aquathermal expansion, and tectonics are most often cited as the causes of abnormal pressure. The association of abnormal pressures with hydrocarbon accumulations is statistically significant. Within abnormally pressured reservoirs, empirical evidence indicates that the bulk of economically recoverable oil and gas occurs in reservoirs with pressure gradients less than 0.75 psi/ft (17.4 kPa/m) and there is very little production potential from reservoirs that exceed 0.85 psi/ft (19.6 kPa/m). Abnormally pressured rocks are also commonly associated with unconventional gas accumulations where the pressuring phase is gas of either a thermal or microbial origin. In underpressured, thermally mature rocks, the affected reservoirs have most often experienced a significant cooling history and probably evolved from an originally overpressured system.

  9. Haem degradation in abnormal haemoglobins.

    PubMed Central

    Brown, S B; Docherty, J C

    1978-01-01

    The coupled oxidation of certain abnormal haemoglobins leads to different bile-pigment isomer distributions from that of normal haemoglobin. The isomer pattern may be correlated with the structure of the abnormal haemoglobin in the neighbourhood of the haem pocket. This is support for haem degradation by an intramolecular reaction. PMID:708385

  10. Puberty in the Girl Who is Retarded.

    ERIC Educational Resources Information Center

    Pattullo, Ann

    Designed to help mothers of mentally retarded girls deal with the problems and concerns of puberty, the booklet provides information on physical and emotional changes, menstruation, masturbation, heterosexual behavior, contraception, protection against sexual aggression, the possibilities of marriage, and additional sources of information.…

  11. Do the Mentally Retarded Have Poor Memory?

    ERIC Educational Resources Information Center

    Ellis, Norman R.

    1978-01-01

    A reevaluation of a number of experiments suggests that normal and retarded persons differ on short-term memory tasks from the time of initial stimulus exposure. The hypothesis that memory differences are due to differential encoding as a result of more adequate rehearsal by the normal subjects is unacceptable. (Author/BW)

  12. Brominated flame retardants as food contaminants

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This book chapter reviews analytical methods for the three major brominated flame retardant (BFR) classes in use today, tetrabromobisphenol-A (TBBP-A), hexabromocyclododecanes (HBCDs), and polybrominated diphenyl ethers (PBDEs), a "legacy" BFR no longer in use, polybrominated biphenyls (PBBs), and a...

  13. Aerobic Fitness for the Moderately Retarded.

    ERIC Educational Resources Information Center

    Bauer, Dan

    1981-01-01

    Intended for physical education teachers, the booklet offers ideas for incorporating aerobic conditioning into programs for moderately mentally retarded students. An explanation of aerobic fitness and its benefits is followed by information on initiating a fitness program with evaluation of height, weight, body fat, resting heart rate, and…

  14. BROMINATED FLAME RETARDANTS: CAUSE FOR CONCERN?

    EPA Science Inventory

    Brominated flame retardants (BFRs) have routinely been added to consumer products for several decades in a successful effort to reduce fire-related injury and property damage. Recently, concern for this emerging class of chemicals has risen due to the occurrence of several class...

  15. Novel additives to retard permeable flow

    SciTech Connect

    Golombok, Michael; Crane, Carel; Ineke, Erik; Welling, Marco; Harris, Jon

    2008-09-15

    Low concentrations of surfactant and cosolute in water, can selectively retard permeable flow in high permeability rocks compared to low permeability ones. This represents a way forward for more efficient areal sweep efficiency when water flooding a reservoir during improved oil recovery. (author)

  16. BROMINATED FLAME RETARDANTS: WHY DO WE CARE?

    EPA Science Inventory

    Brominated flame retardants (BFRs) save lives and property by preventing the spread of fires or delaying the time of flashover, enhancing the time people have to escape. The worldwide production of BFRs exceeded 200,000 metric tons in 2003 placing them in the high production vol...

  17. Jean Piaget Archives Bibliography on Mental Retardation.

    ERIC Educational Resources Information Center

    Bolton, Susie; And Others

    This bibliography lists all entries from the Jean Piaget Archives Catalogues dealing with mental retardation. The list, including almost 200 entries, encompasses four works by Piaget himself, one collaboration, and 189 works by other authors. Entries are arranged in order by their publication in one of the 12 catalogues of the archives, providing…

  18. Abandoning the Myth of Mental Retardation

    ERIC Educational Resources Information Center

    Smith, J. David

    2003-01-01

    In this article, the author talks about the concept underlying the term metal retardation and the effort to define it in a way that is scientifically accurate and in a way that promotes greater sensitivity to the needs of people described by the term which has been continuous for centuries. The author states that a scientifically sound and…

  19. Computer Assisted Instruction for the Mentally Retarded.

    ERIC Educational Resources Information Center

    Providence Coll., RI.

    Computer Assisted Instruction (CAI) for the mentally retarded is described; the advantages of CAI (which generally follows the pattern of programed instruction) are listed; and the roles of the teacher and the student are summarized. The coursewriter is explained, and its use as an experimental tool discussed. Guidelines are given covering…

  20. Language Transference by Mentally Retarded Spanish Speakers.

    ERIC Educational Resources Information Center

    Flaherty, Carol

    In an investigation of language transference vs. language interference, 12 trainable mentally retarded Spanish speakers (5 to 9 years old) were trained to name in English objects previously identified receptively and objects not previously identified receptively in Spanish. Results indicated no significant difference in the number of words learned…

  1. Implementing Programs for Trainable Mentally Retarded Children.

    ERIC Educational Resources Information Center

    Indiana State Dept. of Public Instruction, Indianapolis.

    Guidelines for the development of programs for trainable mentally retarded children are presented. Major task areas identified are the family group, communication skills, physical development, socialization, recreational interests and skills, and preparation for work oriented activity. Six papers are presented: precision teaching and behavior…

  2. READINESS AND READING FOR THE RETARDED CHILD.

    ERIC Educational Resources Information Center

    BERNSTEIN, BEBE

    THIS TEACHER'S BOOK AND MANUAL, DESIGNED TO ACCOMPANY TWO WORKBOOKS, PRESENTS A FUNCTIONAL APPROACH TO READINESS AND READING FOR YOUNG EDUCABLE RETARDED CHILDREN. THE WORKBOOKS THEMSELVES OFFER PREPARATORY ACTIVITIES FOR CHILDREN AT THE READINESS LEVEL AND SEQUENTIAL ACTIVITIES AND MATERIALS FOR THOSE AT THE BEGINNING READING STAGE. THE TEACHER'S…

  3. Improving Outcomes for Workers with Mental Retardation

    ERIC Educational Resources Information Center

    Fornes, Sandra; Rocco, Tonette S.; Rosenberg, Howard

    2008-01-01

    This research presents an analysis of factors predicting job retention, job satisfaction, and job performance of workers with mental retardation. The findings highlight self-determination as a critical skill in predicting the three important employee outcomes. The study examined a hypothesized job retention model and the outcome of the three…

  4. Noncompliant Behavior of People with Mental Retardation.

    ERIC Educational Resources Information Center

    Walker, Rex G.

    1993-01-01

    This literature review on antecedents, behaviors, and consequences in the noncompliant behavior of people with mental retardation found that noncompliance is more likely when instructions are vague or task demands are too difficult and that noncompliance responds well to programs utilizing combinations of social and tangible rewards. (Author/JDD)

  5. New fire retardant foams and intumescents

    NASA Technical Reports Server (NTRS)

    Parker, J. A.

    1972-01-01

    The development of fire retardant foams and intumescent paints for protection of commercial aircraft passengers in the event of fire is discussed. Recommended materials and methods for evaluating the effectiveness of the materials are presented. Typical problems resulting from aircraft fires and the basic protective mechanisms to cope with these problems are examined.

  6. Teaching the Mentally Retarded Job Interviewing Skills

    ERIC Educational Resources Information Center

    Grinnell, Jr., Richard M.; Lieberman, Alice

    1977-01-01

    Examined the most effective usage of videotape in job interview skill training for 24 mentally retarded young adults utilizing the microcounseling model of instruction. Data revealed the microcounseling model is most effective with the two skill areas of eye contact and body posture regardless of the method of videotape utilization. (Author)

  7. Mental Retardation: Past, Present and Future

    ERIC Educational Resources Information Center

    Crissey, Marie Skodak

    1975-01-01

    Notes that two developments had major impacts on policies towards the mentally retarded between the 1880s and the 1920s: (1) the swing toward the eugenics-heredity-genetics movement, and (2) the development of individual intelligence testing. (Author/JM)

  8. Euthanasia and Mental Retardation: Suggesting the Unthinkable.

    ERIC Educational Resources Information Center

    Hollander, Russell

    1989-01-01

    The article examines current opinions toward euthanasia of persons with mental retardation in light of the history of public and professional attitudes. It also discusses the rejection of euthanasia on moral and religious grounds, and notes the use of lifelong incarceration, based on eugenics principles, to accomplish similar ends. (DB)

  9. HEALTH ASPECTS OF BROMINATED FLAME RETARDANTS (BFRS)

    EPA Science Inventory

    In order to reduce the societal costs of fires, flammability standards have been set for consumer products and equipment. Flame retardants containing bromine have constituted the largest share of this market due both to their efficiency and cost. While there are at least 75 dif...

  10. STUDYING LEARNING PATTERNS IN MENTAL RETARDATES.

    ERIC Educational Resources Information Center

    CANDLAND, DOUGLAS K.; MANNING, SIDNEY ALPERN

    FIVE EXPERIMENTS WERE CONDUCTED IN AN ATTEMPT TO ISOLATE SPECIFIC LEARNING PATTERNS IN CHILDREN OF VARYING DEGREES OF MENTAL RETARDATION AND TO CONTRIBUTE TO THE KNOWLEDGE OF THE PHYLOGENETIC DEVELOPMENT OF INTELLIGENCE. FACTORS STUDIED WERE THOSE KNOWN TO INFLUENCE LEARNING IN NORMAL CHILDREN AND ADULTS--KIND OF REINFORCEMENT (VERBAL OR…

  11. HEALTH EFFECTS OF BROMINATED FLAME RETARDANTS (BFRS)

    EPA Science Inventory

    Abstract Brominated flame retardant use has increased dramatically in order to provide fire safety to consumers. However, there is growing concern about widespread environmental contamination and potential health risks from some of these products. The most used products...

  12. Vocational Horticulture for Persons with Mental Retardation.

    ERIC Educational Resources Information Center

    Kern, William H.; And Others

    The study explored methods and techniques for training mentally retarded adults to perform gardening tasks. A total of 31 subjects ages 21 to 48 (IQ range 32-89) participated in the study, which consisted of three phases. In an initial pilot study, experimentation without subjects resulted in the development of modified tools (e.g., notched…

  13. Teaching Laundry Skills to Mentally Retarded Students.

    ERIC Educational Resources Information Center

    Cuvo, Anthony J.; And Others

    1981-01-01

    Five moderately and mildly retarded students (19 to 21 years old) were taught to sort garments to be laundered and to use a clothes washer and dryer. Rapid acquisition and maintenance of the laundry skills were obtained through praise and response contingent feedback as a consequence for behavior. (Author/CL)

  14. Aging, Mental Retardation and Physical Fitness.

    ERIC Educational Resources Information Center

    Rimmer, James H.

    This fact sheet uses a question-and-answer format to provide an overview of what physical fitness is and how it relates to people with mental retardation. Questions address the following topics: the fitness movement; a definition of physical fitness; the different components of physical fitness (muscle strength and endurance, flexibility, body…

  15. PARENT ATTITUDES IN REARING MENTALLY RETARDED CHILDREN.

    ERIC Educational Resources Information Center

    LEICHMAN, NATHAN S.; WILLENBERG, ERNEST P.

    POSITIVE AND NEGATIVE ASPECTS OF REARING MENTAL RETARDATES WERE IDENTIFIED AND MEASURED DURING THIS STUDY BY EXAMINATIONS OF PARENTAL ATTITUDES AND HOW THESE ATTITUDES OFTEN AFFECT THE DAILY BEHAVIOR AND LEARNING READINESS OF CHILDREN WHILE IN SCHOOL. BEHAVIORAL FACTORS OF THE INDIVIDUAL CHILD WERE ANALYZED AND COMPARED WITH STATISTICS COVERING…

  16. Morphological and behavioral markers of environmentally induced retardation of brain development: an animal model.

    PubMed Central

    Altman, J

    1987-01-01

    In most neurotoxicological studies morphological assessment focuses on pathological effects, like degenerative changes in neuronal perikarya, axonopathy, demyelination, and glial and endothelial cell reactions. Similarly, the assessment of physiological and behavioral effects center on evident neurological symptoms, like EEG and EMG abnormalities, resting and intention tremor, abnormal gait, and abnormal reflexes. This paper reviews briefly another central nervous system target of harmful environmental agents, which results in behavioral abnormalities without any qualitatively evident neuropathology. This is called microneuronal hypoplasia, a retardation of brain development characterized by a quantitative reduction in the normal population of late-generated, short-axoned neurons in specific brain regions. Correlated descriptive and experimental neurogenetic studies in the rat have established that all the cerebellar granule cells and a very high proportion of hippocampal granule cells are produced postnatally, and that focal, low-dose X-irradiation either of the cerebellum or of the hippocampus after birth selectively interferes with the acquisition of the full complement of granule cells (microneuronal hypoplasia). Subsequent behavioral investigations showed that cerebellar microneuronal hypoplasia results in profound hyperactivity without motor abnormalities, while hippocampal microneuronal hypoplasia results in hyperactivity, as well as attentional and learning deficits. There is much indirect clinical evidence that various harmful environmental agents affecting the pregnant mother and/or the infant lead to such childhood disorders as hyperactivity and attentional and learning disorders. As the developing human brain is more mature at birth than the rat brain, the risk for microneuronal hypoplasia and consequent behavioral disorders may be highest at late stages of fetal development, in prematurely born and small-for-weight infants, and during the early stages

  17. Fully variable elliptical phase retarder composed of two linear phase retarders

    NASA Astrophysics Data System (ADS)

    Yu, Chih-Jen

    2016-03-01

    In this study, a fully variable elliptical phase retarder was developed by combining a variable linear phase retarder and a half-wave plate. All three polarization parameters of the elliptical phase retarder (elliptical phase retardation γ, azimuth angle θ, and ellipticity angle ɛ) were adjustable. Experimental verification was performed by measuring the polarization parameters with a polarizer-sample-analyzer polarimeter. The polarization parameters were set to γ = 120°, ɛ = 15°, and θ = 20°. The measurement results, γ = 119.838° ± 0.006°, ɛ = 14.659° ± 0.002°, and θ = 20.084° ± 0.002°, agreed with theoretical prediction.

  18. FMR1 Knockout mice: A model to study fragile X mental retardation

    SciTech Connect

    Oostra, B.A.; Bakker, C.E.; Reyniers, E.

    1994-09-01

    The fragile X syndrome is the most frequent form of inherited mental retardation in humans with an incidence of 1 in 1250 males and 1 in 2500 females. The clinical syndrome includes moderate to severe mental retardation, autistic behavior, macroorchidism, and facial features, such as long face with mandibular prognathism and large, everted ears. The molecular basis for this disease is a large expansion of a triplet repeat (CGG){sub n} in the 5{prime} untranslated region of the FMR1 gene. Due to this large expansion of the CGG repeat, the promoter region becomes methylated and the FMR1 gene is subsequently silenced. Hardly anything is known about the physiologic function of FMR1 and the pathologic mechanisms leading to these symptoms. Since the FMR1 gene is highly conserved in the mouse, we used the mouse to design a knockout model for the fragile X syndrome. These knockout mice lacking Fmrp have normal litter size suggesting that FMR1 is not essential in human gametogenesis and embryonic development. The knockout mice show the abnormalities also seen in the affected organs of human patients. Mutant mice show a gradual development through time of macroorchidism. In the knockout mice we observed cognitive defects in the form of deficits in learning (as shown by the hidden platform Morris water maze task) and behavioral abnormalities such as increased exploratory behavior and hyperactivity. Therefore this knockout mouse may serve as a valuable tool in studying the role of FMR1 in the fragile X syndrome and may serve as a model to elucidate the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation.

  19. Whether abnormal energy electrons are being produced in electric discharges in dense gases?

    NASA Astrophysics Data System (ADS)

    Babich, L. P.; Loiko, T. V.

    2015-06-01

    Reviewing results of experimental research of picosecond pulses of runaway electrons (REs) generated by discharges in dense gases at multiple overvoltages, including, along with routine measurements of voltage pulses and RE current, direct measurements of RE energy distributions, pressure dependence of RE numbers and experiment with retarding voltage similar to the accelerating voltage, a reality of the effect of "abnormal energy" REs is being substantiated. With this goal we emphasize non-conventional qualitative RE characteristics rather than quantitative.

  20. Lifetime consequences of abnormal fetal pancreatic development

    PubMed Central

    Holemans, K; Aerts, L; Van Assche, F A

    2003-01-01

    There is ample evidence that an adverse intrauterine environment has harmful consequences for health in later life. Maternal diabetes and experimentally induced hyperglycaemia result in asymmetric overgrowth, which is associated with an increased insulin secretion and hyperplasia of the insulin-producing B-cells in the fetuses. In adult life, a reduced insulin secretion is found. In contrast, intrauterine growth restriction is associated with low insulin secretion and a delayed development of the insulin-producing B-cells. These perinatal alterations may induce a deficient adaptation of the endocrine pancreas and insulin resistance in later life. Intrauterine growth restriction in human pregnancy is mainly due to a reduced uteroplacental blood flow or to maternal undernutrition or malnutrition. However, intrauterine growth restriction can be present in severe diabetes complicated by vasculopathy and nephropathy. In animal models, intrauterine growth retardation can be obtained through pharmacological (streptozotocin), dietary (semi-starvation, low protein diet) or surgical (intrauterine artery ligation) manipulation of the maternal animal. The endocrine pancreas and more specifically the insulin-producing B-cells play an important role in the adaptation to an adverse intrauterine milieu and the consequences in later life. The long-term consequences of an unfavourable intrauterine environment are of major importance worldwide. Concerted efforts are needed to explore how these long-term effects can be prevented. This review will consist of two parts. In the first part, we discuss the long-term consequences in relation to the development of the fetal endocrine pancreas and fetal growth in the human; in the second part, we focus on animal models with disturbed fetal and pancreatic development and the consequences for later life. PMID:12562919

  1. Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation.

    PubMed

    Miyama, S; Arimoto, K; Kimiya, S; Tomi, H

    2000-08-01

    An 8-year old girl with a not previously described type of complicated hereditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Severe delay in mental development was observed. Peripheral neuropathy and optic atrophy developed at 5 years of age. On brain magnetic resonance imaging, an abnormally thin corpus callosum was observed. Involvement of the fasciculus gracilis was suggested by somatosensory evoked potentials. To our knowledge, there has been no reported case of complicated HSP with peripheral neuropathy, optic atrophy and mental retardation so far. We postulate that our patient is a sporadic case of not previously described complicated HSP. PMID:11071149

  2. Cardiovascular Risk Factor Levels in Adults with Mental Retardation.

    ERIC Educational Resources Information Center

    Rimmer, James H.; And Others

    1994-01-01

    Comparison of cardiovascular risk factors (blood lipids, obesity, and smoking) in 329 adults with mental retardation residing in various settings with subjects in the Framingham Offspring Study found that adults with mental retardation had cardiovascular risk profiles similar to those of individuals without mental retardation. (Author/DB)

  3. Mental Retardation: The Search for Cures. Research Monograph Number 7.

    ERIC Educational Resources Information Center

    Menolascino, Frank J.; Neman, Ronald

    The booklet describes the Association for Retarded Citizens' (ARC's) goal of coordinating efforts to seek a cure for mental retardation. Cures are defined as any intervention that would significantly increase intellectual functioning and adaptive behavior beyond the upper level of retardation. It is explained that because of the variety of causes…

  4. The Problem of Typological Thinking in Mental Retardation.

    ERIC Educational Resources Information Center

    Gelb, Steven A.

    1997-01-01

    Asserts that typological thinking, the belief that individual differences diverge around an underlying type of essence, has persisted regarding mental retardation and prevents the appreciation of individual differences and human dignity in the mental retardation field. Past and present controversies over the definition of mental retardation are…

  5. Low Elevated Lead Levels and Mild Mental Retardation.

    ERIC Educational Resources Information Center

    Marlowe, Mike; And Others

    To investigate the relation between low level lead absorption and mild mental retardation, hair lead concentrations were compared in a group of 40 mildly retarded children "etiology unknown" with a control group of 20 children. Children with probable cause for retardation were excluded from the sample as were children with a history of lead…

  6. Attitudes of High School Students toward Individuals with Mental Retardation.

    ERIC Educational Resources Information Center

    Krajewski, Junean; Flaherty, Thomas

    2000-01-01

    The attitudes of 144 high school students toward individuals with mental retardation were examined using the Mental Retardation Attitude Inventory-Revised. Results indicated that gender and frequency of contact both influenced attitudes. Females and students with more frequent contacts with individuals with mental retardation indicated more…

  7. Conjunctive Visual Search in Individuals with and without Mental Retardation

    ERIC Educational Resources Information Center

    Carlin, Michael; Chrysler, Christina; Sullivan, Kate

    2007-01-01

    A comprehensive understanding of the basic visual and cognitive abilities of individuals with mental retardation is critical for understanding the basis of mental retardation and for the design of remediation programs. We assessed visual search abilities in individuals with mild mental retardation and in MA- and CA-matched comparison groups. Our…

  8. Neuropsychological Profiles of Persons with Mental Retardation and Dementia

    ERIC Educational Resources Information Center

    Palmer, Glen A.

    2006-01-01

    This study examined the use of neuropsychological tests to assist in the differential diagnosis of dementia among persons with mental retardation. The author compared performances of persons with mental retardation and dementia ("n" = 10) to persons with mental retardation without dementia ("n" = 12). Participants were matched by IQ (mild or…

  9. Stimulus Overselectivity: A Common Feature in Autism and Mental Retardation

    ERIC Educational Resources Information Center

    Lovaas, O. Ivar; Wilhelm, Hannelore

    1976-01-01

    Overselective attention in discrimination between picture cards was investigated with three groups of children with different IQ levels: 10 severely retarded (IQ = 29 - 51, CA = 9.6 - 18 years), 10 moderately retarded (IQ = 56 - 85, CA = 12.8 - 16.3 years), and 10 non-retarded (CA = 10 - 12 years). (Author/IM)

  10. Repair Behaviors of Children with and without Mental Retardation.

    ERIC Educational Resources Information Center

    Scudder, Rosalind R.; Tremain, Deborah Hobbs

    1992-01-01

    Communication repair behaviors of 10 children with mental retardation (ages 11-13) and 10 mental age-matched children without mental retardation were examined. The children with mental retardation did not respond as often and rarely used details to expand their utterances. Results have implications for the development of conversational skills in…

  11. Motor Task Persistence of Children with and without Mental Retardation.

    ERIC Educational Resources Information Center

    Kozub, Francis M.; Porretta, David L.; Hodge, Samuel R.

    2000-01-01

    Task persistence by 31 children (ages 9-13) with and without mental retardation during two challenging motor tasks was investigated. A main effect was found for group affiliation: children without mental retardation attempted more trials over three sessions. Results indicated children with mental retardation were less persistent than typical…

  12. Guidelines for Library Services for People with Mental Retardation.

    ERIC Educational Resources Information Center

    Association of Specialized and Cooperative Library Agencies, Chicago, IL.

    This guide is designed to assist all libraries, including school, public, academic, and specialized libraries such as prison and institutional libraries, to better serve the needs of people of all ages who are mentally retarded. An overview provides a definition of mental retardation, places services for people with mental retardation in…

  13. Serving Young Children Whose Parents Are Mentally Retarded.

    ERIC Educational Resources Information Center

    Lynch, Eleanor W.; Bakley, Sue

    1989-01-01

    The article reviews the cognitive and social/emotional characteristics associated with mental retardation, the literature on parents with mental retardation, and the interaction between these characteristics in relation to child abuse and neglect. Three case studies of mentally retarded parents illustrate the range of problems and needs service…

  14. Older Mentally Retarded Persons: Demographic Profile and Service Requirements.

    ERIC Educational Resources Information Center

    Seltzer, Marsha Mailick

    An overview is presented on current knowledge about elderly mentally retarded persons. Definitional and incidence issues are addressed, and support is voiced for use of a lower cut-off for the beginning of old age among the retarded than for the general population. Conflicting findings of age-related differences in mentally retarded adults are…

  15. Morphological and behavioral markers of environmentally induced retardation of brain development: an animal model

    SciTech Connect

    Altman, J.

    1987-10-01

    In most neurotoxicological studies morphological assessment focuses on pathological effects, like degenerative changes in neuronal perikarya, axonopathy, demyelination, and glial and endothelial cell reactions. Similarly, the assessment of physiological and behavioral effects center on evident neurological symptoms, like EEG and EMG abnormalities, resting and intention tremor, abnormal gait, and abnormal reflexes. This paper reviews briefly another central nervous system target of harmful environmental agents, which results in behavioral abnormalities without any qualitatively evident neuropathology. This is called microneuronal hypoplasia, a retardation of brain development characterized by a quantitative reduction in the normal population of late-generated, short-axoned neurons in specific brain regions. Correlated descriptive and experimental neurogenetic studies in the rat have established that all the cerebellar granule cells and a very high proportion of hippocampal granule cells are produced postnatally, and that focal, low-dose X-irradiation either of the cerebellum or of the hippocampus after birth selectively interferes with the acquisition of the full complement of granule cells (microneuronal hypoplasia). Subsequent behavioral investigations showed that cerebellar microneuronal hypoplasia results in profound hyperactivity without motor abnormalities, while hippocampal microneuronal hypoplasia results in hyperactivity, as well as attentional and learning deficits. There is much indirect clinical evidence that various harmful environmental agents affecting the pregnant mother and/or the infant lead to such childhood disorders as hyperactivity and attentional and learning disorders. 109 references.

  16. [Prenatal diagnosis and treatments of intrauterine growth retardation (author's transl)].

    PubMed

    Kaneoka, T; Shimizu, H; Matsuoka, I; Taguchi, S; Shirakawa, K

    1982-02-01

    Prenatal management consisting of bed rest, high protein diet and oral administration of allylestrenol was assessed in prospective studies of 22 IUGR pregnancies, in which ultrasonographically determined fetal body weight was less than 10th percentile of Japanese population. In these cases, the gestational age was ascertained and corrected in the first trimester of pregnancy by the routine sonar measurements of CRL and BPD. Early in the third trimester, the fetal body weight was estimated by BPD and AC using the method of Warsof et al. Following the prenatal treatment, sonar measurements and biochemical determinations of maternal plasma and urinary E3, plasma HPL and progesterone, and serum HSAP and LAP were made biweekly. As results: (1) The fetal estimated body weight, averaging initially 1431 +/- 284 g at 33.8 +/- 2.1 weeks of gestation, increased finally up to 2612 +/- 451 g at 39.5 +/- 1.8 weeks. (2) Average delta/week weight gain, being 212 +/- 67 g in these cases, exceeded significantly that, being 162 +/- 43 g, of normal 50th percentile level. (3) Fifty percent of the newborn was larger than 10th percentile of normal population, at the delivery. (4) Neonatal birth weight correlated significantly with finally estimated fetal body weight (r = 0.82, Y = 1.01 X + 17.5). (5) Maternal plasma E3, which was initially low in 20 out of 22 cases (91%), being 2.1 +/- 1.5 ng/ml, elevated to 4.1 +/- 3.6 ng/ml following 2 weeks treatment. Urinary E3 increased significantly from 14.0 +/- 6.9 mg/day to 23.7 +/- 11.2 mg/day. Plasma progesterone raised significantly from 110 +/- 14 ng/ml to 133 +/- 31 ng/ml. Those results suggested that maternal increases in steroid levels were at least partly due to a stimulation of placental function by allylestrenol. PMID:7061905

  17. Chromosomal abnormalities in human sperm

    SciTech Connect

    Martin, R.H.

    1985-01-01

    The ability to analyze human sperm chromosome complements after penetration of zona pellucida-free hamster eggs provides the first opportunity to study the frequency and type of chromosomal abnormalities in human gametes. Two large-scale studies have provided information on normal men. We have studied 1,426 sperm complements from 45 normal men and found an abnormality rate of 8.9%. Brandriff et al. (5) found 8.1% abnormal complements in 909 sperm from 4 men. The distribution of numerical and structural abnormalities was markedly dissimilar in the 2 studies. The frequency of aneuploidy was 5% in our sample and only 1.6% in Brandriff's, perhaps reflecting individual variability among donors. The frequency of 24,YY sperm was low: 0/1,426 and 1/909. This suggests that the estimates of nondisjunction based on fluorescent Y body data (1% to 5%) are not accurate. We have also studied men at increased risk of sperm chromosomal abnormalities. The frequency of chromosomally unbalanced sperm in 6 men heterozygous for structural abnormalities varied dramatically: 77% for t11;22, 32% for t6;14, 19% for t5;18, 13% for t14;21, and 0% for inv 3 and 7. We have also studied 13 cancer patients before and after radiotherapy and demonstrated a significant dose-dependent increase of sperm chromosome abnormalities (numerical and structural) 36 months after radiation treatment.

  18. Haematological abnormalities in mitochondrial disorders

    PubMed Central

    Finsterer, Josef; Frank, Marlies

    2015-01-01

    INTRODUCTION This study aimed to assess the kind of haematological abnormalities that are present in patients with mitochondrial disorders (MIDs) and the frequency of their occurrence. METHODS The blood cell counts of a cohort of patients with syndromic and non-syndromic MIDs were retrospectively reviewed. MIDs were classified as ‘definite’, ‘probable’ or ‘possible’ according to clinical presentation, instrumental findings, immunohistological findings on muscle biopsy, biochemical abnormalities of the respiratory chain and/or the results of genetic studies. Patients who had medical conditions other than MID that account for the haematological abnormalities were excluded. RESULTS A total of 46 patients (‘definite’ = 5; ‘probable’ = 9; ‘possible’ = 32) had haematological abnormalities attributable to MIDs. The most frequent haematological abnormality in patients with MIDs was anaemia. 27 patients had anaemia as their sole haematological problem. Anaemia was associated with thrombopenia (n = 4), thrombocytosis (n = 2), leucopenia (n = 2), and eosinophilia (n = 1). Anaemia was hypochromic and normocytic in 27 patients, hypochromic and microcytic in six patients, hyperchromic and macrocytic in two patients, and normochromic and microcytic in one patient. Among the 46 patients with a mitochondrial haematological abnormality, 78.3% had anaemia, 13.0% had thrombopenia, 8.7% had leucopenia and 8.7% had eosinophilia, alone or in combination with other haematological abnormalities. CONCLUSION MID should be considered if a patient’s abnormal blood cell counts (particularly those associated with anaemia, thrombopenia, leucopenia or eosinophilia) cannot be explained by established causes. Abnormal blood cell counts may be the sole manifestation of MID or a collateral feature of a multisystem problem. PMID:26243978

  19. Autism and chromosome abnormalities-A review.

    PubMed

    Bergbaum, Anne; Ogilvie, Caroline Mackie

    2016-07-01

    The neuro-behavioral disorder of autism was first described in the 1940s and was predicted to have a biological basis. Since that time, with the growth of genetic investigations particularly in the area of pediatric development, an increasing number of children with autism and related disorders (autistic spectrum disorders, ASD) have been the subject of genetic studies both in the clinical setting and in the wider research environment. However, a full understanding of the biological basis of ASDs has yet to be achieved. Early observations of children with chromosomal abnormalities detected by G-banded chromosome analysis (karyotyping) and in situ hybridization revealed, in some cases, ASD associated with other features arising from such an abnormality. The introduction of higher resolution techniques for whole genome screening, such as array comparative genome hybridization (aCGH), allowed smaller imbalances to be detected, some of which are now considered to represent autism susceptibility loci. In this review, we describe some of the work underpinning the conclusion that ASDs have a genetic basis; a brief history of the developments in genetic analysis tools over the last 50 years; and the most common chromosome abnormalities found in association with ASDs. Introduction of next generation sequencing (NGS) into the clinical diagnostic setting is likely to provide further insights into this complex field but will not be covered in this review. Clin. Anat. 29:620-627, 2016. © 2016 Wiley Periodicals, Inc. PMID:27012322

  20. Abnormal Canine Bone Development Associated with Hypergravity Exposure

    NASA Technical Reports Server (NTRS)

    Morgan, J. P.; Fisher, G. L.; McNeill, K. L.; Oyama, J.

    1979-01-01

    Chronic centrifugation of 85- to 92-day-old Beagles at 2.0 x g and 2.6 x g for 26 weeks during the time of active skeletal growth caused skeletal abnormalities in the radius and the ulna of ten of 11 dogs. The pattern of change mimicked that found in naturally occurring and experimentally induced premature distal ulnar physeal closure or delayed growth at this physis. Minimal changes in bone density were detected by sensitive photon absorptiometric techniques. Skeletal abnormalities also were found in five of the six cage-control dogs, although the run-control dogs were radiographically normal.

  1. Mental retardation in a boy with anterior cervical hypertrichosis.

    PubMed

    Corona-Rivera, J Román; González-Abarca, Sergio; Hernández-Rocha, Juan; García-Cruz, Diana; Corona-Rivera, Alfredo

    2005-05-15

    Anterior cervical hypertrichosis (ACH) is a rare form of localized hypertrichosis with 15 previously reported cases. ACH has been considered to be a dominant phenotype, either X-linked or autosomal [OMIM 600457]. ACH was associated with hereditary motor and sensory neuropathy (HMSN) in one family, in which the proband also exhibited severe chorioretinal degeneration and optic atrophy, probably as a different entity [OMIM 239840]. A Mexican boy with congenital ACH associated with moderate mental retardation, abnormal EEG, mild microcephaly, hypertrichosis on the back, and hallux valgus is presented here. An equal sex ratio found in 16 reported cases as well as the suggestion of a paternal age effect in one report appear most consistent with an autosomal dominant mode of inheritance for this trait. It remains unclear if isolated ACH, ACH-HMSN, or other associated findings reported in patients with ACH, including unusual features found in our case, are part of ACH or fortuitous associations, due to the small number of affected patients and different ascertainment biases present in previous reports. PMID:15800907

  2. Brominated flame retardants: cause for concern?

    PubMed Central

    Birnbaum, Linda S; Staskal, Daniele F

    2004-01-01

    Brominated flame retardants (BFRs) have routinely been added to consumer products for several decades in a successful effort to reduce fire-related injury and property damage. Recently, concern for this emerging class of chemicals has risen because of the occurrence of several classes of BFRs in the environment and in human biota. The widespread production and use of BFRs; strong evidence of increasing contamination of the environment, wildlife, and people; and limited knowledge of potential effects heighten the importance of identifying emerging issues associated with the use of BFRs. In this article, we briefly review scientific issues associated with the use of tetrabromobisphenol A, hexabromocyclododecane, and three commercial mixtures of polybrominated diphenyl ethers and discuss data gaps. Overall, the toxicology database is very limited; the current literature is incomplete and often conflicting. Available data, however, raise concern over the use of certain classes of brominated flame retardants. PMID:14698924

  3. [Curing mental retardation: searching for balance].

    PubMed

    Harel, Sharon; Jenna, Sarah

    2011-01-01

    Mental retardation (MR) occurs in 2 to 3 % of the general population and is still not therapeutically addressed. Milder forms of MR result from deficient synaptogenesis and/or impaired synaptic plasticity during childhood. These alterations would result from disequilibrium in signalling pathways regulating the balance between long term potentiation (LTP) and long term depression (LTD) in certain neurons such as hippocampus neurons. To provide mentally retarded children with increased cognitive abilities, novel experimental approaches are currently being developed to characterize signalling status associated with MR and to identify therapeutic targets that would restore lost equilibrium. Several studies also highlighted the major role played by molecular switches like kinases, phosphatases, small G proteins and their regulators in the coordination and integration of signalling pathways associated with synaptic plasticity. These proteins may therefore constitute promising therapeutic targets for a number of cognitive deficiencies. PMID:21299965

  4. Postnatal growth defects in mice with constitutive depletion of central serotonin.

    PubMed

    Narboux-Nême, Nicolas; Angenard, Gaelle; Mosienko, Valentina; Klempin, Friederike; Pitychoutis, Pothitos M; Deneris, Evan; Bader, Michael; Giros, Bruno; Alenina, Natalia; Gaspar, Patricia

    2013-01-16

    Although the trophic actions of serotonin (5-HT) are well established, only few developmental defects have been reported in mouse strains with constitutive hyposerotonergia. We analyzed postnatal growth and cortical development in three different mutant mouse strains with constitutive reductions in central 5-HT levels. We compared two previously published mouse strains with severe (-95%) depletions of 5-HT, the tryptophan hydroxylase (Tph) 2(-/-) mouse line and VMAT2(sert-cre) mice, with a new strain, in which VMAT2 deletion is driven by Pet1 (VMAT2(pet1-cre)) in 5-HT raphe neurons leading to partial (-75%) reduction in brain 5-HT levels. We find that normal embryonic growth and postnatal growth retardation are common features of all these mouse strains. Postnatal growth retardation varied from mild to severe according to the extent of the brain 5-HT reduction and gender. Normal growth was reinstated in VMAT2(sert-cre) mice by reconstituting central 5-HT stores. Growth abnormalities could not be linked to altered food intake or temperature control. Morphological study of the cerebral cortex over postnatal development showed a delayed maturation of the upper cortical layers in the VMAT2(sert-cre) and Tph2(-/-) mice, but not in the VMAT2(pet1-cre) mice. No changes in layer-specific gene expression or morphological alterations of barrel cortex development were found. Overall, these observations sustain the notion that central 5-HT signaling is required for the preweaning growth spurt of mouse pups. Brain development appeared to be immune to severe central 5-HT depletion for its overall growth during prenatal life, whereas reduced brain growth and delayed cortical maturation development occurred during postnatal life. Reduced developmental 5-HT signaling during postnatal development might modulate the function and fine structure of neural circuits in ways that affect adult behavior. PMID:23336056

  5. Adverse Pregnancy Outcomes after Abnormal First Trimester Screening for Aneuploidy

    PubMed Central

    Goetzl, Laura

    2010-01-01

    Women with abnormal first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency >3.5mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities and other structural abnormalities. Abnormal first trimester analytes are also associated with adverse pregnancy outcomes but the predictive value is less impressive. As a single marker, PAPP-A <1st%ile has a good predictive value for subsequent fetal growth restriction. Women with PAPP-A<5th%ile should undergo subsequent risk assessment with routine MSAFP screening with the possible addition of uterine artery PI assessment in the midtrimester. PMID:20638576

  6. Prospective study of the development of growth hormone deficiency in children given cranial irradiation, and its relation to statural growth

    SciTech Connect

    Brauner, R.; Rappaport, R.; Prevot, C.; Czernichow, P.; Zucker, J.M.; Bataini, P.; Lemerle, J.; Sarrazin, D.; Guyda, H.J.

    1989-02-01

    Although GH deficiency (GHD) is the most frequent hormonal abnormality that occurs after cranial radiation, the natural course of this complication and its relationship to growth in children are not known. Therefore, we undertook a 2-yr prospective study of 16 children, aged 1.7-15 yr at the time of treatment, who received cranial (31-42 Gy (1 Gy = 100 rads)) and spinal radiation for medulloblastoma or ependymoma (group I). Their growth was compared to that of 11 children given similar doses of cranial radiation only (group II). The mean plasma GH response to arginine-insulin test (AITT) was 9.1 +/- 1.5 (+/- SE) micrograms/L in group I and 8.5 +/- 1.8 micrograms/L in group II (P = NS). After 2 yr, 16 of the 27 children had a peak plasma GH value below 8 micrograms/L after AITT, and 10 children had a peak response less than 5 micrograms/L. In addition, in group I, AITT and sleep-related GH secretion were compared; at the 2 yr follow-up only 3 of 13 children had discrepant results. At the 2 yr follow-up children treated by cranial and spinal radiation had a mean height of -1.46 +/- 0.40 SD below the normal mean. In contrast, the children given only cranial radiation had a mean height of -0.15 +/- 0.18 SD; P less than 0.02. Therefore, most of the growth retardation appeared to be due to lack of spinal growth. GHD is thus an early complication of cranial radiation in these children, and no significant growth retardation can be attributed to GHD during the first 2 yr. These data contribute to the organization of follow-up in irradiated children in order to decide when human GH treatment is necessary.

  7. Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene.

    PubMed

    Linhares, Natália D; Svartman, Marta; Salgado, Mauro Ivan; Rodrigues, Tatiane C; da Costa, Silvia S; Rosenberg, Carla; Valadares, Eugênia R

    2014-12-01

    Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development. PMID:25606385

  8. X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

    SciTech Connect

    Morava, E.; Storcz, J.; Kosztolanyi, G.

    1996-07-12

    We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non-consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. supports their suggestion that these patients are representative of a distinct entity. 8 refs., 3 figs., 1 tab.

  9. High speed memory scanning in retarded and non-retarded adolescents.

    PubMed

    Todman, J; Gibb, C M

    1985-02-01

    Four groups of 13-14-year-olds, classified on the basis of Raven's Progressive Matrices scores as intellectually above average, average, below average and retarded, were subjects in a Sternberg (1966) type memory scanning task in which memory sets of two, three and four letters were used. Slope values of the memory search function did not differ between groups, whereas intercept values decreased with higher intelligence up to the average intelligence level. There was an overall inverse relation between intercept values and intelligence (r = -0.77) and similar relations obtained within the three non-retarded groups (rs greater than or equal to -0.57), but not within the retarded group (r = -0.06). Possible connections between these results and findings from inspection time studies are discussed. PMID:3978355

  10. Endocrine Abnormalities in Patients with Chronic Kidney Disease.

    PubMed

    Kuczera, Piotr; Adamczak, Marcin; Wiecek, Andrzej

    2015-01-01

    In patients with chronic kidney disease the alterations of the endocrine system may arise from several causes. The kidney is the site of degradation as well as synthesis of many different hormones. Moreover, a number of concomitant pathological conditions such as inflammation, metabolic acidosis and malnutrition may participate in the pathogenesis of endocrine abnormalities in this group of patients. The most pronounced endocrine abnormalities in patients with chronic kidney disease are the deficiencies of: calcitriol, testosterone, insulin-like growth factor and, erythropoietin (EPO). Additionally accumulation of several hormones, such as: prolactin, growth hormone and insulin frequently also occur. The clinical consequences of the abovementioned endocrine abnormalities are among others: anemia, infertility and bone diseases. PMID:27442377

  11. Platelet abnormalities in aggressive subjects with mental deficiency.

    PubMed Central

    Marazziti, D; Palego, L; Silvestri, S; Presta, S; Balestri, C; Batistini, A; Conti, L

    1996-01-01

    Platelet 3H-imipramine (3H-IMI) binding and platelet sulfotransferase (ST) activity, taken as markers of the serotonin (5-HT) and sulfated neurotransmitters (tyramine, dopamine, serotonin, noradrenaline), respectively, were evaluated in 14 severely aggressive subjects institutionalized since childhood for mental retardation and in an equal number of healthy controls. The results showed the presence of a lower number of 3H-IMI binding sites and a higher ST activity in the patients as compared with controls. These data provide supporting evidence for the hypothesis of an abnormality of the 5-HT system and suggest possible dysfunctions of dopamine and sulfated amines in aggressive behavior, at least as reflected by platelet markers. PMID:8820176

  12. Molecular abnormalities in Ewing's sarcoma.

    PubMed

    Burchill, Susan Ann

    2008-10-01

    Ewing's sarcoma is one of the few solid tumors for which the underlying molecular genetic abnormality has been described: rearrangement of the EWS gene on chromosome 22q12 with an ETS gene family member. These translocations define the Ewing's sarcoma family of tumors (ESFT) and provide a valuable tool for their accurate and unequivocal diagnosis. They also represent ideal targets for the development of tumor-specific therapeutics. Although secondary abnormalities occur in over 80% of primary ESFT the clinical utility of these is currently unclear. However, abnormalities in genes that regulate the G(1)/S checkpoint are frequently described and may be important in predicting outcome and response. Increased understanding of the molecular events that arise in ESFT and their role in the development and maintenance of the malignant phenotype will inform the improved stratification of patients for therapy and identify targets and pathways for the design of more effective cancer therapeutics. PMID:18925858

  13. Complex patterns of abnormal heartbeats

    NASA Technical Reports Server (NTRS)

    Schulte-Frohlinde, Verena; Ashkenazy, Yosef; Goldberger, Ary L.; Ivanov, Plamen Ch; Costa, Madalena; Morley-Davies, Adrian; Stanley, H. Eugene; Glass, Leon

    2002-01-01

    Individuals having frequent abnormal heartbeats interspersed with normal heartbeats may be at an increased risk of sudden cardiac death. However, mechanistic understanding of such cardiac arrhythmias is limited. We present a visual and qualitative method to display statistical properties of abnormal heartbeats. We introduce dynamical "heartprints" which reveal characteristic patterns in long clinical records encompassing approximately 10(5) heartbeats and may provide information about underlying mechanisms. We test if these dynamics can be reproduced by model simulations in which abnormal heartbeats are generated (i) randomly, (ii) at a fixed time interval following a preceding normal heartbeat, or (iii) by an independent oscillator that may or may not interact with the normal heartbeat. We compare the results of these three models and test their limitations to comprehensively simulate the statistical features of selected clinical records. This work introduces methods that can be used to test mathematical models of arrhythmogenesis and to develop a new understanding of underlying electrophysiologic mechanisms of cardiac arrhythmia.

  14. Secondary Abnormalities of Neurotransmitters in Infants with Neurological Disorders

    ERIC Educational Resources Information Center

    Garcia-Cazorla, A.; Serrano, M.; Perez-Duenas, B.; Gonzalez, V.; Ormazabal, A.; Pineda, M.; Fernandez-Alvarez, E.; Campistol, J. M. D.; Artuch, R. M. D.

    2007-01-01

    Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants…

  15. [Emotion Disorders and Abnormal Perspiration].

    PubMed

    Umeda, Satoshi

    2016-08-01

    This article reviewed the relationship between emotional disorders and abnormal perspiration. First, I focused on local brain areas related to emotional processing, and summarized the functions of the emotional network involving those local areas. Functional disorders followed by the damage in the amygdala, orbitofrontal cortex, and insular cortex were reviewed, including related abnormal perspiration. I then addressed the mechanisms of how autonomic disorders influence emotional processing. Finally, possible future directions for integrated understanding of the connection between neural activities and bodily reactions were discussed. PMID:27503817

  16. Ultrasonographic assessment of abnormal pregnancy.

    PubMed

    England, G C

    1998-07-01

    Ultrasonographic imaging is widely used in small animal practice for the diagnosis of pregnancy and the determination of fetal number. Ultrasonography can also be used to monitor abnormal pregnancies, for example, conceptuses that are poorly developed for their gestational age (and therefore are likely to fail), and pregnancies in which there is embryonic resorption or fetal abortion. An ultrasound examination may reveal fetal abnormalities and therefore alter the management of the pregnant bitch or queen prior to parturition. There are, however, a number of ultrasonographic features of normal pregnancies that may mimic disease, and these must be recognized. PMID:9698618

  17. MRI as a tool to study brain structure from mouse models for mental retardation

    NASA Astrophysics Data System (ADS)

    Verhoye, Marleen; Sijbers, Jan; Kooy, R. F.; Reyniers, E.; Fransen, E.; Oostra, B. A.; Willems, Peter; Van der Linden, Anne-Marie

    1998-07-01

    Nowadays, transgenic mice are a common tool to study brain abnormalities in neurological disorders. These studies usually rely on neuropathological examinations, which have a number of drawbacks, including the risk of artefacts introduced by fixation and dehydration procedures. Here we present 3D Fast Spin Echo Magnetic Resonance Imaging (MRI) in combination with 2D and 3D segmentation techniques as a powerful tool to study brain anatomy. We set up MRI of the brain in mouse models for the fragile X syndrome (FMR1 knockout) and Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus (CRASH) syndrome (L1CAM knockout). Our major goal was to determine qualitative and quantitative differences in specific brain structures. MRI of the brain of fragile X and CRASH patients has revealed alterations in the size of specific brain structures, including the cerebellar vermis and the ventricular system. In the present MRI study of the brain from fragile X knockout mice, we have measured the size of the brain, cerebellum and 4th ventricle, which were reported as abnormal in human fragile X patients, but found no evidence for altered brain regions in the mouse model. In CRASH syndrome, the most specific brain abnormalities are vermis hypoplasia and abnormalities of the ventricular system with some degree of hydrocephalus. With the MRI study of L1CAM knockout mice we found vermis hypoplasia, abnormalities of the ventricular system including dilatation of the lateral and the 4th ventricles. These subtle abnormalities were not detected upon standard neuropathological examination. Here we proved that this sensitive MRI technique allows to measure small differences which can not always be detected by means of pathology.

  18. Electrode contamination effects of retarding potential analyzer.

    PubMed

    Fang, H K; Oyama, K-I; Cheng, C Z

    2014-01-01

    The electrode contamination in electrostatic analyzers such as Langmuir probes and retarding potential analyzers (RPA) is a serious problem for space measurements. The contamination layer acts as extra capacitance and resistance and leads to distortion in the measured I-V curve, which leads to erroneous measurement results. There are two main effects of the contamination layer: one is the impedance effect and the other is the charge attachment and accumulation due to the capacitance. The impedance effect can be reduced or eliminated by choosing the proper sweeping frequency. However, for RPA the charge accumulation effect becomes serious because the capacitance of the contamination layer is much larger than that of the Langmuir probe of similar dimension. The charge accumulation on the retarding potential grid causes the effective potential, that ions experience, to be changed from the applied voltage. Then, the number of ions that can pass through the retarding potential grid to reach the collector and, thus, the measured ion current are changed. This effect causes the measured ion drift velocity and ion temperature to be changed from the actual values. The error caused by the RPA electrode contamination is expected to be significant for sounding rocket measurements with low rocket velocity (1-2 km/s) and low ion temperature of 200-300 K in the height range of 100-300 km. In this paper we discuss the effects associated with the RPA contaminated electrodes based on theoretical analysis and experiments performed in a space plasma operation chamber. Finally, the development of a contamination-free RPA for sounding rocket missions is presented. PMID:24517809

  19. Nanotechnology finding its way into flame retardancy

    NASA Astrophysics Data System (ADS)

    Schartel, Bernhard

    2014-05-01

    Nanotechnology is one of the key technologies of the 21st century. The exploitation of "new" effects that arise from materials structured on the nano-scale has also been proposed successfully for flame retardancy of polymers since the end of the 90s. Of all of the approaches these include, at this time the use of nanocomposites offers the best potential for industrial application, also some other ideas are sketched, such as using electrospun nanofibers mats or layer-by-layer deposits as protection coatings, as well as sub-micrometer multilayer coatings as effective IR-mirrors. The general phenomena, inducing a flow limit in the pyrolysing melt and changing the fire residue, are identified in nanocomposites. Key experiments are performed such as quasi online investigation of the protection layer formation to understand what is going on in detail. The flame retardancy mechanisms are discussed and their impact on fire behaviour quantified. With the latter, the presentation pushes forward the state of the art. For instance, the heat shielding is experimentally quantified for a layered silicate epoxy resin nanocomposite proving that it is the only import mechanism controlling the reduction in peak heat release rate in the investigated system for different irradiations. The flame retardancy performance is assessed comprehensively illuminating not only the strengths but also the weak points of the concepts. Guidelines for materials development are deduced and discussed. Apart from inorganic fillers (layered silicate, boehmite, etc.) not only carbon nanoobjects such as multiwall carbon nanotubes, multilayer graphene and graphene are investigated, but also nanoparticles that are more reactive and harbor the potential for more beneficial interactions with the polymer matrix.

  20. Nanotechnology finding its way into flame retardancy

    SciTech Connect

    Schartel, Bernhard

    2014-05-15

    Nanotechnology is one of the key technologies of the 21{sup st} century. The exploitation of 'new' effects that arise from materials structured on the nano-scale has also been proposed successfully for flame retardancy of polymers since the end of the 90s. Of all of the approaches these include, at this time the use of nanocomposites offers the best potential for industrial application, also some other ideas are sketched, such as using electrospun nanofibers mats or layer-by-layer deposits as protection coatings, as well as sub-micrometer multilayer coatings as effective IR-mirrors. The general phenomena, inducing a flow limit in the pyrolysing melt and changing the fire residue, are identified in nanocomposites. Key experiments are performed such as quasi online investigation of the protection layer formation to understand what is going on in detail. The flame retardancy mechanisms are discussed and their impact on fire behaviour quantified. With the latter, the presentation pushes forward the state of the art. For instance, the heat shielding is experimentally quantified for a layered silicate epoxy resin nanocomposite proving that it is the only import mechanism controlling the reduction in peak heat release rate in the investigated system for different irradiations. The flame retardancy performance is assessed comprehensively illuminating not only the strengths but also the weak points of the concepts. Guidelines for materials development are deduced and discussed. Apart from inorganic fillers (layered silicate, boehmite, etc.) not only carbon nanoobjects such as multiwall carbon nanotubes, multilayer graphene and graphene are investigated, but also nanoparticles that are more reactive and harbor the potential for more beneficial interactions with the polymer matrix.