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Sample records for abnormalities developmental

  1. Signs and symptoms of developmental abnormalities of the genitourinary tract

    Directory of Open Access Journals (Sweden)

    Paulo Cesar Koch Nogueira

    2016-06-01

    Full Text Available Abstract Objective: The abnormalities of the genitourinary tract development are the leading cause of chronic kidney disease (CKD in children. The diagnosis of this disease in Brazil is late and incomplete, which results in increased morbidity and mortality in this age group. Early diagnosis of this condition is the prerogative of generalist pediatricians, and the aim of this study was to review the clinical signs and symptoms associated with developmental abnormalities of the genitourinary tract. Data sources: Based on the description of a symbolic clinical case, the authors conducted a non-systematic review of medical literature. Data synthesis: The results suggest that the following data should be used as a warning for early diagnosis of affected children: (a combined urinary tract abnormalities (chromosomal abnormalities; sequence of malformations [VACTERLand Prune-Belly]; and musculoskeletal, digestive tract, heart, and nervous system malformations; (b previous history (congenital anomalies of the kidney and urinary tract [CAKUT] in the family, low birth weight, and oligoamnios; (c clinical signs (polyuria/nocturia, urinary tract infection, systemic arterial hypertension, failure to thrive, weak urinary stream, difficulty to start urination, distended bladder, non-monosymptomatic enuresis, urinary/urge incontinence, and bowel and bladder dysfunction; and (d pre- and postnatal ultrasonographic alterations (increased anteroposterior diameter of the renal pelvis, mainly in the third trimester of pregnancy; single kidney; hydronephrosis associated with other abnormalities; and hydronephrosis with parenchymal involvement in the post-neonatal assessment. Conclusion: The suggestions shown here can help the pediatrician to establish clinical hypotheses for the early diagnosis of developmental abnormalities of the genitourinary tract without resorting to expensive and invasive procedures.

  2. Abnormalities on the Neurological Examination and EEG in Young Children with Pervasive Developmental Disorders

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    Akshoomoff, Natacha; Farid, Nikdokht; Courchesne, Eric; Haas, Richard

    2007-01-01

    This study examined the nature and frequency of neurological and EEG abnormalities in 60 young children (ages 2-6 years) with pervasive developmental disorders. A number of standard neurological functions could not be adequately assessed due to the young age of the children and/or limited comprehension and cooperation. The most common neurological…

  3. Reproductive abnormalities, teratogenicity, and developmental problems in American kestrels (Falco sparverius) exposed to polychlorinated biphenyls.

    Science.gov (United States)

    Fernie, Kim; Bortolotti, Gary; Smits, Judit

    2003-11-28

    This study found abnormalities in multiple reproductive stages in captive American kestrels (Falco sparverius) when exposed to polychlorinated biphenyls (PCBs) through dietary and in ovo exposure. American kestrels laid eggs with environmentally relevant total PCB levels (34.1 micrograms/g whole egg wet weight) when consuming PCB-spiked (Aroclor 1248:1254:1260) food (5-7 micrograms/g body weight per day) for 100 d only in 1998. In 1999, the same adults laid eggs with estimated total PCBs of 23 micrograms/g. Effects of maternal (only female exposed) and paternal (only male exposed) in ovo PCB exposure were investigated. Maternal F1 eggs contained predicted total PCB concentrations of 0.34 microgram/g. Specific abnormalities occurred more frequently during dietary F0 exposure, particularly aggressive courtship interactions, clutch abandonment, occurrences of cracked eggs, and developmental effects. Multiple developmental effects were more pronounced during than after dietary PCB exposure of adults, and although these effects were limited, nevertheless they occurred in the F1 maternal and F1 paternal pairs. However, the incidence of multiple deformities throughout the breeding season increased dramatically from 1998 (13%) to 1999 (56%) in F0 PCB-exposed pairs. Developmental abnormalities were unlikely to be attributed to the extrinsic factors of disease, genetics, or nutritional (vitamin D3) deficiencies, but rather to adverse changes in parental behavior and intrinsic factors involving altered genetic material and PCB exposure. Readily cleared PCB congeners may induce specific types of behavioral and developmental abnormalities, but persistent congeners and metabolites are likely producing (1) odd laying patterns, (2) odd laying patterns, (2) developmental effects including embryonic underdevelopment and edema, and (3) increased incidences of multiple deformities within a clutch. PMID:14710594

  4. [Revaluation of the concept of developmental abnormality: the importance of faulty perinatal imprinting].

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    Csaba, György

    2015-07-12

    The classic definition of developmental abnormalities referred to malformations observed at birth. Later the functional teratogenicity was also recognized and accepted, which can be revealed in functional abnormalities caused by harms during the intrauterine development and can be manifested at any time of life. However, the ontogeny is not closed with the birth, because some systems or organs are developing for a long time after it, and can be influenced by different factors. From this aspect the perinatal period is especially important when the mutual adjustment of the receptor-hormone system is taking place and the hormonal imprinting develops. If this is faulty, it influences the hormone binding capacity of receptors that has consequences for life. The faulty hormonal imprinting is functionally teratogen; it provokes a fault up to the level of a malformation and aggravated with its heredity to the progenies. False imprinting is provoked (in animal experiments, proportioning to human doses) by drugs acting at receptor level, as oxytocin, steroid hormone analogues (pregnancy protectors, oral contraceptives, surfactants), vitamin A and D, environmental pollutant endocrine disruptors (benzpyrene, bisphenol A, pesticides, herbicides) and certain soybean components, etc. From this aspect these are functional teratogens, and their evasion in prevention as well as therapy seems to be vital. This means that the concept of developmental abnormality must be broadened, as developmental abnormalities: 1.) can originate not only in the intrauterine period, but also perinatally or even later, 2.) it can be manifested at any time of life, 3.) it can be present in a latent form which can be activated by inner or outer environmental factors, 4.) the faulty hormonal imprinting is a teratogen factor. PMID:26149504

  5. Photoreactivation of developmental abnormality in sea urchin embryos induced by UV-irradiated sperm

    International Nuclear Information System (INIS)

    The effects of UV-irradiation of sperm on the embryonic development of sea urchins (H. pulcherrimus, Anthocidaris crassispina, Pseudocentrotus depressus, and C. japonicus) were studied. Eggs inseminated with UV-irradiated sperm developed almost normally into blastulae without arrest of cleavage or hatching, even though they showed some division delay. Morphogenesis was disturbed in and after the gastrula stage, and the formation of normal pluteus larvae was inhibited depending on the UV dose (5 - 30 J/m2) given to the sperm. Morphological abnormalities observed were as follows: inhibition of gastrulation; abnormal delamination and random arrangement of primary mesenchymal cells onto the ectodermal wall; abnormal localization or an excess number of spicules; malformed skeletons. These developmental abnormalities were photoreactivated with high efficiency. Inhibition of pluteus formation to less than 5% by the UV-irradiation with 20 J/m2 completely recovered under fluorescent light illumination with 10 klux. By treating the eggs with brief illumination at various times after insemination, a stage-dependent change of the photoreactivation (PR) efficiency was found. PR treatment after the insemination up to the onset of the first DNA synthesizing phase was highly effective for the recovery, while the PR efficiency began to decrease during the S phase, becoming zero on and after the end of the phase. In eggs fertilized with UV-irradiated sperm, mitoses were abnormal and shromosomal bridges were formed at the anaphase of the first mitosis. Their frequency increased depending on the UV dose. The mitotic abnormality was also photoreactivated with visible light treatment after fertilization. The change in PR efficiency of the illumination was very similar to that of morphological abnormality. (Author)

  6. Developmental abnormality induced by strong static magnetic field in Caenorhabditis elegans.

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    Wang, Lei; Du, Hua; Guo, Xiaoying; Wang, Xinan; Wang, Meimei; Wang, Yichen; Wang, Min; Chen, Shaopeng; Wu, Lijun; Xu, An

    2015-04-01

    Understanding the effects of strong static magnetic fields (SMFs) on living organisms is significant in health risk assessment, but underlying mechanisms are largely unknown. In the present study, we determined developmental abnormalities induced by 8.5Tesla (T) SMFs in a well-established in vivo model organism, Caenorhabditis elegans (C. elegans). Exposure of C. elegans eggs to 8.5 T SMF resulted in a time-dependent lifespan decrease, whereas only slight changes were observed upon exposure to 5 T SMF. Although SMF exposure did not alter brood size, development rate and stages were significantly modified by 8.5 T SMF. Germ cell apoptosis dramatically increased upon exposure to 8.5 T SMF in adult worms, as confirmed by ced-3 and ced-4 mutants, and could be prevented by concurrent treatment with a free radical scavenger, dimethyl sulfoxide. Compared to wild-type worms, shorter lifespan and greater numbers of apoptotic cells were observed in abnormal methyl viologen sensitivity-1 (mev-1(kn1)) nematodes with increased sensitivity to oxidative damage. Furthermore, exposure to 8.5 T SMF increased expression of superoxide dismutase-3 (sod-3), which is thought to protect against oxidative stress. However, 8.5 T SMF had minimal effects on lifespans of daf-2 and daf-16 mutants, which have compromised insulin/IGF-1 (insulin-like growth factors-1) mediated signaling pathways; this finding was consistent with the expression of these genes in wild-type worms. Our results indicate that developmental toxicity induced by strong SMF in C. elegans is mediated by oxidative stress and may be regulated by the insulin-like receptor pathway.

  7. An Investigation of Sleep Characteristics, EEG Abnormalities and Epilepsy in Developmentally Regressed and Non-Regressed Children with Autism

    Science.gov (United States)

    Giannotti, Flavia; Cortesi, Flavia; Cerquiglini, Antonella; Miraglia, Daniela; Vagnoni, Cristina; Sebastiani, Teresa; Bernabei, Paola

    2008-01-01

    This study investigated sleep of children with autism and developmental regression and the possible relationship with epilepsy and epileptiform abnormalities. Participants were 104 children with autism (70 non-regressed, 34 regressed) and 162 typically developing children (TD). Results suggested that the regressed group had higher incidence of…

  8. Assessment of developmental retardation and abnormality of in vivo produced preimplantation embryos in rat.

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    Rupasri, A; Shivakumar, K R; Sreenath, B R; Seshagiri, P B

    1995-12-01

    In most mammals studied, a substantial numbers of preimplantation embryos are believed to be lost in vivo. In vitro, embryos develop slowly and lose viability. Hence, there is a need to assess the extent and cause of embryonic loss both in vivo and in vitro. In this study, we assessed the quality of in vivo produced ovulation products/embryos, recovered on days 1-5 pregnancy, from naturally bred wistar rats. From day 1 pregnant rats (n = 24), 226 ovulation products were recovered which included 52% (117) unfertilized oocytes and empty zonae with/without cell debris (UFO-EZ:CD) and 48% (109) 1-cells. Flushings of day 2 rats (n = 27) contained 229 ovulation products, consisting of 70% (160) 2-cells and 30% (69) UFO-EZ:CD. Flushings of day 3 rats (n = 27) had 23% (56) 2-cells, 6% (15) 3-cells, 23% (57) 4-cells, 1% (2) 5-7 cells, 2% (5) 8-cells and 45% (112) UFO-EZ:CD, total being 247. Flushings of day 4 rats (n = 28) had 193 ovulation products comprising of one morula, 45% (86) 8-cells, 5% (9) 5-7-cells and the rest were 4-cells (2), 3-cells (2), 2-cells (1) and 48% (92) UFO-EZ:CD. Day 5 flushings (n = 27) had 202 ovulation products which included 13% (27) morulae, 17% (34) early, 36% (73) mid and 2% (5) late blastocysts; additionally, 4-cells (1), 8-cells (2) and 30% (60) UFO-EZ:CD were also recovered. On day 4, embryos (8-cells) migrated from the oviduct to the uterus. When pregnant rats (n = 25) were allowed to term, only 15 females (60%) delivered pups (128) with variable litter size (2-12). These results indicate that 56% (619/1097) of recovered rat preimplantation embryos are of expected developmental age with a mixture of asynchronously cleaving embryos. The remaining 44% (478) is comprised of 38% (417) UFO-EZ:CD and 6% (61) abnormal and developmentally retarded embryos, which are unlikely to produce viable pups at term.

  9. Microstructural callosal abnormalities in normal-appearing brain of children with developmental delay detected with diffusion tensor imaging

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    Ding, Xiao-Qi [Hannover Medical School, Institute of Diagnostic and Interventional Neuroradiology, Hannover (Germany); University Medical Center Hamburg-Eppendorf, Department of Neuroradiology, Hamburg (Germany); Sun, Yimeng; Illies, Till; Zeumer, Hermann; Fiehler, Jens [University Medical Center Hamburg-Eppendorf, Department of Neuroradiology, Hamburg (Germany); Kruse, Bernd [University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg (Germany); Lanfermann, Heinrich [Hannover Medical School, Institute of Diagnostic and Interventional Neuroradiology, Hannover (Germany)

    2009-06-15

    Callosal fibres play an important role in psychomotor and cognitive functions. The purpose of this study was to investigate possible microstructural abnormalities of the corpus callosum in children with developmental delay, who have normal conventional brain MR imaging results. Seventeen pediatric patients (aged 1-9 years) with developmental delay were studied. Quantitative T2 and fractional anisotropy (FA) values were measured at the genu and splenium of the corpus callosum (CC). Fibre tracking, volumetric determination, as well as fibre density calculations of the CC were also carried out. The results were compared with those of the age-matched healthy subjects. A general elevation of T2 relaxation times (105 ms in patients vs. 95 ms in controls) and reduction of the FA values (0.66 in patients vs. 0.74 in controls) at the genu of the CC were found in patients. Reductions of the fibre numbers (5,464 in patients vs. 8,886 in controls) and volumes (3,415 ml in patients vs. 5,235 ml in controls) of the CC were found only in patients older than 5 years. The study indicates that despite their inconspicuous findings in conventional MRI microstructural brain abnormalities are evident in these pediatric patients suffering from developmental delay. (orig.)

  10. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

    Science.gov (United States)

    Brunetti-Pierri, Nicola; Berg, Jonathan S; Scaglia, Fernando; Belmont, John; Bacino, Carlos A; Sahoo, Trilochan; Lalani, Seema R; Graham, Brett; Lee, Brendan; Shinawi, Marwan; Shen, Joseph; Kang, Sung-Hae L; Pursley, Amber; Lotze, Timothy; Kennedy, Gail; Lansky-Shafer, Susan; Weaver, Christine; Roeder, Elizabeth R; Grebe, Theresa A; Arnold, Georgianne L; Hutchison, Terry; Reimschisel, Tyler; Amato, Stephen; Geragthy, Michael T; Innis, Jeffrey W; Obersztyn, Ewa; Nowakowska, Beata; Rosengren, Sally S; Bader, Patricia I; Grange, Dorothy K; Naqvi, Sayed; Garnica, Adolfo D; Bernes, Saunder M; Fong, Chin-To; Summers, Anne; Walters, W David; Lupski, James R; Stankiewicz, Pawel; Cheung, Sau Wai; Patel, Ankita

    2008-12-01

    Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 probands with the 1q21.1 microduplication. These CNVs were inherited in most of the cases in which parental studies were available. Consistent and statistically significant features of microcephaly and macrocephaly were found in individuals with microdeletion and microduplication, respectively. Notably, a paralog of the HYDIN gene located on 16q22.2 and implicated in autosomal recessive hydrocephalus was inserted into the 1q21.1 region during the evolution of Homo sapiens; we found this locus to be deleted or duplicated in the individuals we studied, making it a probable candidate for the head size abnormalities observed. We propose that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. These phenotypes are subject to incomplete penetrance and variable expressivity.

  11. Abnormal Functional Lateralization and Activity of Language Brain Areas in Typical Specific Language Impairment (Developmental Dysphasia)

    Science.gov (United States)

    de Guibert, Clement; Maumet, Camille; Jannin, Pierre; Ferre, Jean-Christophe; Treguier, Catherine; Barillot, Christian; Le Rumeur, Elisabeth; Allaire, Catherine; Biraben, Arnaud

    2011-01-01

    Atypical functional lateralization and specialization for language have been proposed to account for developmental language disorders, yet results from functional neuroimaging studies are sparse and inconsistent. This functional magnetic resonance imaging study compared children with a specific subtype of specific language impairment affecting…

  12. Acoustic startle responses of rats with cerebral developmental abnormalities : implications for schizophrenia

    NARCIS (Netherlands)

    Talamini, LM; Ellenbroek, B; Koch, T; Korf, J

    1999-01-01

    Mounting evidence suggests involvement of prenatal factors in the pathogenesis of schizophrenia. The objective of the present study was to provide evidence for the hypothesis on schizophrenia that abnormal fetal brain development leads to impaired sensorimotor gating of acoustic startle stimuli. To

  13. Congenital deformities and developmental abnormalities of the mandibular condyle in the temporomandibular joint.

    Science.gov (United States)

    Kaneyama, Keiseki; Segami, Natsuki; Hatta, Toshihisa

    2008-09-01

    The temporomandibular joint (TMJ) consists of the mandibular condyle and the articular eminence of the temporal bone. The morphological development of the TMJ during prenatal life lags behind other joints in terms of both the timing of its appearance and its progress. At birth, the joint is still largely underdeveloped. There are many causes of the various growth disturbances and abnormalities of the mandibular condyle and related structures. Growth disturbances in the development of the mandibular condyle may occur in utero late in the first trimester and may result in disorders such as aplasia or hypoplasia of the mandibular condyle. Meanwhile, hyperplasia of the mandibular condyle is not visible at birth and seems to be gradually acquired during growth. In the present review article, the congenital abnormalities of the mandibular condyle are classified morphologically into three major groups and two subgroups from a clinical standpoint: (1) hypoplasia or aplasia of the mandibular condyle, including (i) primary condylar aplasia and hypoplasia, (ii) secondary condylar hypoplasia; (2) hyperplasia; and (3) bifidity. In addition, the molecular-based etiology of anomalies of the mandibular condyle is also discussed. PMID:18778456

  14. Developmental abnormalities and differential expression of genes induced in oil and dispersant exposed Menidia beryllina embryos.

    Science.gov (United States)

    Adeyemo, Olanike K; Kroll, Kevin J; Denslow, Nancy D

    2015-11-01

    Exposure of fish embryos to relatively low concentrations of oil has been implicated in sub-lethal toxicity. The objective of this study was to determine the effects of the exposure of Menidia beryllina embryos at 30-48h post-fertilization to the water accommodated fractions of oil (WAF, 200ppm, v/v), dispersants (20ppm, v/v, Corexit 9500 or 9527), and mixtures of oil and each of the dispersants to produce chemically enhanced water accommodated fractions (CEWAFs) over a 72-hour period. The polyaromatic hydrocarbon (PAH) and benzene, toluene, ethylene and xylene (BTEX) constituents of the 5X concentrated exposure solutions (control, WAF, dispersants and CEWAFs) were determined and those of the 1× exposures were derived using a dilution factor. PAH, BTEX and low molecular weight PAH constituents greater than 1ppb were observed in WAF and the dispersants, but at much higher levels in CEWAFs. The WAF and CEWAFs post-weathering were diluted at 1:5 (200ml WAF/CEWAF: 800ml 25ppt saltwater) for embryo exposures. Mortality, heartbeat, embryo normalcy, abnormality types and severities were recorded. The qPCR assay was used to quantify abundances of transcripts of target genes for sexual differentiation and sex determination (StAR, dmrt-1, amh, cyp19b, vtg and chg-L,), growth regulation (ghr) and stress response (cyp1a and Hsp90); and gapdh served as the housekeeping gene. Temperature was 21±1.5°C throughout the experimental period, while mortality was low and not significantly different (p=0.68) among treatments. Heartbeat was significantly different (0.0034) with the lowest heartbeats recorded in Corexit 9500 (67.5beats/min) and 9527 (67.1beats/min) exposed embryos compared with controls (82.7beats/min). Significantly more treated embryos were in a state of deterioration, with significantly more embryos presenting arrested tissue differentiation compared with controls (p=0.021). Exposure to WAF, dispersants and CEWAF induced aberrant expression of all the genes, with

  15. Genetic and Developmental Perspective of Language Abnormality in Autism and Schizophrenia: One Disease Occurring at Different Ages in Humans?

    Science.gov (United States)

    Wang, Haoran George; Jeffries, Joseph Joel; Wang, Tianren Frank

    2016-04-01

    Language and communication through it are two of the defining features of normally developed human beings. However, both these functions are often impaired in autism and schizophrenia. In the former disorder, the problem usually emerges in early childhood (~2 years old) and typically includes a lack of communication. In the latter condition, the language problems usually occur in adolescence and adulthood and presents as disorganized speech. What are the fundamental mechanisms underlying these two disorders? Is there a shared genetic basis? Are the traditional beliefs about them true? Are there any common strategies for their prevention and management? To answer these questions, we searched PubMed by using autism, schizophrenia, gene, and language abnormality as keywords, and we reconsidered the basic concepts about these two diseases or syndromes. We found many functional genes, for example, FOXP2, COMT, GABRB3, and DISC1, are actually implicated in both of them. After observing the symptoms, genetic correlates, and temporal progression of these two disorders as well as their relationships more carefully, we now infer that the occurrence of these two diseases is likely developmentally regulated via interaction between the genome and the environment. Furthermore, we propose a unified view of autism and schizophrenia: a single age-dependently occurred disease that is newly named as Systemic Integral Disorder: if occurring in children before age 2, it is called autism; if in adolescence or a later age, it is called schizophrenia. PMID:25686622

  16. ENVIRONMENTAL CONTAMINATION AND DEVELOPMENTAL ABNORMALITIES IN EGGS AND HATCHLINGS OF THE COMMON SNAPPING TURTLE (CHELYDRA SERPENTINA SERPENTINA) FROM THE GREAT LAKES-ST. LAWRENCE RIVER BASIN (1989-91). (R827102)

    Science.gov (United States)

    AbstractDuring 1989-91, we assessed developmental abnormalities in embryos and hatchlings from eggs of the common snapping turtle (Chelydra serpentina serpentina). Eggs were collected and artificially incubated from eight sites in Ontario, Canada and Akwesasne/...

  17. 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.

    Science.gov (United States)

    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

  18. Abnormal Development of the Femoral Head Epiphysis in an Infant with no Developmental Dysplasia of the Hip Apparent on Ultrasonography

    OpenAIRE

    Atalar, Hakan; Gunay, Cuneyd; Aytekin, Mahmut Nedim

    2014-01-01

    Introduction: In the investigation of hip development in newborns and infants, ultrasonography and radiography are widely used, but their optimal roles in this setting remain controversial. Case Report: Here we describe an 8.5-month-old infant who had undergone hip radiography at a primary care facility and was referred to our hospital to be evaluated for developmental dysplasia of the hip. Ultrasonography showed no developmental dysplasia of the hip according to standard criteria, but develo...

  19. The Domain of Developmental Psychopathology.

    Science.gov (United States)

    Sroufe, L. Alan; Rutter, Michael

    1984-01-01

    Describes how developmental psychopathology differs from related disciplines, including abnormal psychology, psychiatry, clinical child psychology, and developmental psychology. Points out propositions underlying a developmental perspective and discusses implications for research in developmental psychopathology. (Author/RH)

  20. MRI Diagnosis of Developmental Venous Abnormality in Brain%脑发育性静脉异常的MRI诊断

    Institute of Scientific and Technical Information of China (English)

    李文贵

    2008-01-01

    脑发育性静脉异常(developmental venous anomaly,DVA),是一种组织学上完全由静脉成分构成的脑血管畸形,MRI应用于临床以来,该病的报道逐渐增多。本文分析7例DVA的MRI平扫和增强检查表现,探讨MRI对DVA的诊断价值。

  1. Knockdown of ribosomal protein S7 causes developmental abnormalities via p53 dependent and independent pathways in zebrafish.

    Science.gov (United States)

    Duan, Juan; Ba, Qian; Wang, Ziliang; Hao, Miao; Li, Xiaoguang; Hu, Pingting; Zhang, Deyi; Zhang, Ruiwen; Wang, Hui

    2011-08-01

    Ribosomal proteins (RPs), structural components of the ribosome involved in protein synthesis, are of significant importance in all organisms. Previous studies have suggested that some RPs may have other functions in addition to assembly of the ribosome. The small ribosomal subunits RPS7, has been reported to modulate the mdm2-p53 interaction. To further investigate the biological functions of RPS7, we used morpholino antisense oligonucleotides (MO) to specifically knockdown RPS7 in zebrafish. In RPS7-deficient embryos, p53 was activated, and its downstream target genes and biological events were induced, including apoptosis and cell cycle arrest. Hematopoiesis was also impaired seriously in RPS7-deficient embryos, which was confirmed by the hemoglobin O-dianisidine staining of blood cells, and the expression of scl, gata1 and α-E1 globin were abnormal. The matrix metalloproteinase (mmp) family genes were also activated in RPS7 morphants, indicating that improper cell migration might also cause development defects. Furthermore, simultaneously knockdown of the p53 protein by co-injecting a p53 MO could partially reverse the abnormal phenotype in the morphants. These results strengthen the hypothesis that specific ribosomal proteins regulate p53 and that their deficiency affects hematopoiesis. Moreover, our data implicate that RPS7 is a regulator of matrix metalloproteinase (mmp) family in zebrafish system. These specific functions of RPS7 may provide helpful clues to study the roles of RPs in human disease.

  2. Misregulation of AUXIN RESPONSE FACTOR 8 underlies the developmental abnormalities caused by three distinct viral silencing suppressors in Arabidopsis.

    Directory of Open Access Journals (Sweden)

    Florence Jay

    2011-05-01

    Full Text Available In Arabidopsis, micro (miRNAs and trans-acting (ta-siRNAs synthesized directly or indirectly through the DICER-LIKE-1 (DCL1 ribonuclease have roles in patterning and hormonal responses, while DCL2,3,4-dependent small-interfering (siRNAs are mainly involved in silencing of transposable elements and antiviral defense. Viral suppressors of RNA silencing (VSRs produced by phytoviruses to counter plant defense may perturb plant developmental programs because of the collision of their inhibitory effects with the regulatory action of endogenous miRNAs and ta-siRNAs. This could explain the similar developmental aberrations displayed by Arabidopsis miRNA/ta-siRNA pathway mutants, including dcl1, and by some VSR-expressing plants. Nonetheless, the molecular bases for these morphological aberrations have remained mysterious, and their contribution to viral disease symptoms/virulence unexplored. The extent of VSR inhibitory actions to other types of endogenous small RNAs remains also unclear. Here, we present an in-depth analysis of transgenic Arabidopsis expressing constitutively HcPro, P19 and P15, three unrelated VSRs. We show that VSR expression has comparable, yet modest effects on known miRNA and ta-siRNA target RNA levels, similar to those observed using an hypomorphic dcl1 mutation. However, by combining results of transcriptome studies with deep-sequencing data from immuno-precipitated small RNAs, additional, novel endogenous targets of miRNA and ta-siRNA were identified, unraveling an unsuspected complexity in the origin and scope-of-action of these molecules. Other stringent analyses pinpointed misregulation of the miR167 target AUXIN RESPONSE FACTOR 8 (ARF8 as a major cause for the developmental aberrations exhibited by VSR transgenic plants, but also for the phenotypes induced during normal viral infection caused by the HcPro-encoding Turnip mosaic virus (TuMV. Neither RNA silencing, its suppression by VSRs, nor the virulence/accumulation of Tu

  3. Atrazine triggers developmental abnormality of ovary and oviduct in quails (Coturnix Coturnix coturnix) via disruption of hypothalamo-pituitary-ovarian axis.

    Science.gov (United States)

    Qin, Lei; Du, Zheng-Hai; Zhu, Shi-Yong; Li, Xue-Nan; Li, Nan; Guo, Jing-Ao; Li, Jin-Long; Zhang, Ying

    2015-12-01

    There has been a gradual increase in production and consumption of atrazine (ATR) in agriculture to meet the population rising demands. Female reproduction is necessary for growth and maintenance of population. However, ATR impact on females and particularly ovarian developmental toxicity is less clear. The aim of this study was to define the pathways by which ATR exerted toxic effects on ovarian development of ovary and hypothalamo-pituitary-ovarian (HPO) axis. Female quails were dosed by oral gavage from sexual immaturity to maturity with 0, 50, 250 and 500 mg ATR/kg/d for 45 days. ATR had no effect on mortality but depressed feed intake and growth and influenced the biochemical parameters. Notably, the arrested development of ovaries and oviducts were observed in ATR-exposed quails. The circulating concentrations of E2, P, LH and PRL were unregulated and FSH and T was downregulated in ATR-treated quails. The mRNA expression of GnRH in hypothalamo and LH in pituitary and FSH in ovary was downregulated significantly by ATR exposure and FSH and PRL in pituitary were upregulated. ATR exposure upregulated the level of P450scc, P450arom, 3β-HSD and 17β-HSD in ovary and downregulated ERβ expression in female quails. However, ATR did not change ERα expression in ovary. This study provides new insights regarding female productive toxicology of ATR exposure. Ovary and oviduct in sexually maturing females were target organs of ATR-induced developmental toxicity. We propose that ATR-induced developmental abnormality of ovary and oviduct is associated with disruption of gonadal hormone balance and HPO axis in female quails. PMID:26432752

  4. Developmental Outcome and Related Abnormalities in Goats: Comparison Between Somatic Cell Nuclear Transfer- and In Vivo-Derived Concepti During Pregnancy Through Term.

    Science.gov (United States)

    Martins, Leonardo Tondello; Neto, Saul Gaudêncio; Tavares, Kaio César Simiano; Calderón, Carlos Enrique Méndez; Aguiar, Luis Henrique; Lazzarotto, Cícera Regina; Ongaratto, Felipe Ledur; Rodrigues, Victor Hugo Vieira; Carneiro, Igor de Sá; Rossetto, Rafael; Almeida, Anderson Pinto; Fernandes, César Carneiro Linhares; Rondina, Davide; Dias, Ana Christina Oliveira; Chies, Jocelei Maria; Polejaeva, Irina A; Rodrigues, José Luiz; Forell, Fabiana; Bertolini, Luciana Relly; Bertolini, Marcelo

    2016-08-01

    Cloning by somatic cell nuclear transfer (SCNT) is characterized by low efficiency and the occurrence of developmental abnormalities, which are rather poorly studied phenomena in goats. This study aimed at comparing overall SCNT efficiency in goats by using in vitro-matured (IVM) or in vivo-matured oocytes and fibroblast donor cells (mock transfected, transgenic, or wild type), also characterizing symptoms of the Abnormal Offspring Syndrome (AOS) in development, comparing results with pregnancies produced by artificial insemination (AI) and in vivo-derived (IVD) embryos. The SCNT group had lower pregnancy rate (18.3%, 11/60), total number of concepti (20.0%, 12/60), term births (3.3%, 2/60), and live births (1.7%, 1/60) than both the IVD (77.8%, 7/9; 155.5%, 14/9; 122.2%, 11/9; 88.8%, 8/9) and the AI (71.4%, 10/14; 121.4%, 17/14; 100%, 14/14; 78.5%, 11/14) groups, respectively (p < 0.05). No SCNT pregnancies reached term using IVM oocytes, but in vivo-matured oocytes resulted in two term transgenic cloned kids. The proportion fetal membrane (FM) weight/birth weight reflected an increase in FM size and cotyledonary enlargement in clones, for disproportionally bigger newborns in relation to cotyledonary numbers. Overall, goat cloning showed losses and abnormality patterns similar to the AOS in cloned cattle and sheep, which have not been previously well recognized in goats. PMID:27362734

  5. Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.

    Science.gov (United States)

    Caporali, Paola; Bruno, Francesco; Palladino, Giampiero; Dragotto, Jessica; Petrosini, Laura; Mangia, Franco; Erickson, Robert P; Canterini, Sonia; Fiorenza, Maria Teresa

    2016-01-01

    Niemann-Pick type C1 (NPC1) disease is a lysosomal storage disorder caused by defective intracellular trafficking of exogenous cholesterol. Purkinje cell (PC) degeneration is the main sign of cerebellar dysfunction in both NPC1 patients and animal models. It has been recently shown that a significant decrease in Sonic hedgehog (Shh) expression reduces the proliferative potential of granule neuron precursors in the developing cerebellum of Npc1 (-/-) mice. Pursuing the hypothesis that this developmental defect translates into functional impairments, we have assayed Npc1-deficient pups belonging to the milder mutant mouse strain Npc1 (nmf164) for sensorimotor development from postnatal day (PN) 3 to PN21. Npc1 (nmf164) / Npc1 (nmf164) pups displayed a 2.5-day delay in the acquisition of complex motor abilities compared to wild-type (wt) littermates, in agreement with the significant disorganization of cerebellar cortex cytoarchitecture observed between PN11 and PN15. Compared to wt, Npc1 (nmf164) homozygous mice exhibited a poorer morphological differentiation of Bergmann glia (BG), as indicated by thicker radial shafts and less elaborate reticular pattern of lateral processes. Also BG functional development was defective, as indicated by the significant reduction in GLAST and Glutamine synthetase expression. A reduced VGluT2 and GAD65 expression also indicated an overall derangement of the glutamatergic/GABAergic stimulation that PCs receive by climbing/parallel fibers and basket/stellate cells, respectively. Lastly, Npc1-deficiency also affected oligodendrocyte differentiation as indicated by the strong reduction of myelin basic protein. Two sequential 2-hydroxypropyl-β-cyclodextrin administrations at PN4 and PN7 counteract these defects, partially preventing functional impairment of BG and fully restoring the normal patterns of glutamatergic/GABAergic stimulation to PCs.These findings indicate that in Npc1 (nmf164) homozygous mice the derangement of synaptic

  6. Missed abortion caused by fetal chromosome abnormalities or developmental defects and its management%胚胎发育异常所致流产及管理

    Institute of Scientific and Technical Information of China (English)

    赵晓曦

    2011-01-01

    自然流产是产科常见病之一,但在目前的技术条件下,自然流产的原因常常难以被发现,胚胎发育异常是造成流产的重要原因之一,对胚胎的外观畸形,染色体核型异常进行诊断和评估是寻找自然流产原因的重要途径,而辅助生殖技术的应用对于发现胚胎染色体异常及减少流产有一定的作用.%Missed abortion is a common obstetric disease, but under current technical conditions, causes of missed abortion are difficult to be found out. Developmental disorders of embryo is one of important cause of missed abortion. Diagnosing and evaluating structural malformations and chromosomal aberrations are important approches to find out the causes of missed abortion. And, application of assisted reproductive technique(ART) in recent years is helpful for identifying chromosome abnormalities of the embryo before implantation and avoiding incidence of missed abortion.

  7. Pericentric inversion of chromosome 11 (p14.3q21) associated with developmental delays, hypopigmented skin lesions and abnormal brain MRI findings - a new case report

    Energy Technology Data Exchange (ETDEWEB)

    Zachor, D.A.; Lofton, M. [Univ. of Alabama, Birmingham (United States)

    1994-09-01

    We report 3 year old male, referred for evaluation of developmental delays. Pregnancy was complicated by oligohydramnios, proteinuria and prematurity. Medical history revealed: bilateral inguinal hernia, small scrotal sac, undescended testes, developmental delays and behavioral problems. The child had: microcephaly, facial dysmorphic features, single palmar creases, hypopigmented skin lesions of variable size, intermittent exotropia and small retracted testes. Neurological examination was normal. Cognitive level was at the average range with mild delay in his adaptive behavior. Expressive language delays and severe articulation disorder were noted, as well as clumsiness, poor control and precision of gross and fine motor skills. Chromosomal analysis of peripheral leukocytes indicated that one of the number 11 chromosomes had undergone a pericentric inversion with breakpoints on the short (p) arm at band p14.3 and the long (q) arm at band q21. An MRI of the brain showed mild delay in myelinization pattern of white matter. Chromosome 11 inversion in other sites was associated with Beckwith-Wiedemann syndrome and several malignancies. To our knowledge this is the first description of inv(11)(p14.3q21) that is associated with microcephaly, dysmorphic features, hypopigmented skin lesions and speech delay. This inversion may disrupt the expression of the involved genes. However, additional cases with the same cytogenetic anomaly are needed to explore the phenotypic significance of this disorder.

  8. Environmental endocrine disruptors and developmental abnormalities in wildlife; Kankyo horumon (gaiinsei naibunpi kakuran kagaku busshitsu) no kankyo seibutsu ni taisuru eikyo

    Energy Technology Data Exchange (ETDEWEB)

    Iguchi, T. [Yokohama City Univ., Yokohama (Japan)

    1998-04-15

    The environmental endocrine disruptor, or the so-called environmental hormone, is outlined. Hormones are secreted from endocrine glands in trace amounts, transported by blood, and exert influence on the target organs and distal cells, this to sustain constancy in living organisms. There are two types: peptide hormones which are rows of amino acids and steroid hormones which are composed of cholesterol. Endocrine disruptors are chemical substances discharged into the environment which, once taken into human organisms, disrupt endocrine systems, some acting like female sex hormones and others resisting male sex hormones. Many a wild animal are found affected by them. They are accumulating in human organisms too. Synthesized chemical substances such as DDT, PCB, dioxins, and alkylphenols present in the water system affect a fish by disrupting its endocrine, immunity, nerve, growth, and regeneration. Embryos and larvae are quite susceptible, easy to turn abnormal. Voices are high across the world for the study of environmental endocrine disruptors. Introduced in this report are some animal experiments, typical cases of impact on the ecosystem, and systems for detecting environmental endocrine disruptors. 36 refs., 1 tab.

  9. Developmental Dyspraxia

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Developmental Dyspraxia Information Page Synonym(s): Dyspraxia Table of Contents (click ... being done? Clinical Trials Organizations What is Developmental Dyspraxia? Developmental dyspraxia is a disorder characterized by an ...

  10. Progress and unresolved issues in developmental psychopathology

    NARCIS (Netherlands)

    J.A. Sergeant; P.J.M. Prins

    1997-01-01

    (from the chapter) Discusses the definition of abnormality, the association between disorders, role of age, maturation and developmental processes in the manifestation, recognition, and assessment of developmental psychopathology in children using the life-span approach. Questions of how the predict

  11. Inferring the developmental basis of the sea star abnormality "double ambulacral groove" (Echinodermata: Asteroidea Inferencia sobre la base de desarrollo en estrellas de mar de la anormalidad "doble surco ambulacral" (Echinodermata: Asteroidea

    Directory of Open Access Journals (Sweden)

    FREDERICK H C HOTCHKISS

    2000-12-01

    Full Text Available Very rarely a ray of a sea star is unusually wide and has two parallel ambulacral grooves that extend to a single tip. Such a ray has two terminal plates that are coalesced laterally. This abnormality is inferred to develop as a rare result of regeneration because it is recorded from a species with obligate asexual reproduction (fission and regeneration of halves; no gametes. This conclusion is supported also by an example where the abnormality affects only the distal third of a rayMuy raramente un rayo de estrella de mar es desproporcionadamente ancho y tiene dos surcos ambulacrales paralelos que se extienden hasta su único extremo. Dicho rayo tiene dos placas terminales que coalecen lateralmente. Se ha inferido que esta anormalidad se desarrolla como un resultado raro de regeneración, porque se describe de una especie con reproducción asexual obligada (fisión y regeneración de mitades; no gametos. Además, esta conclusión se sostiene por un ejemplo de anormalidad que afecta sólo el tercio distal de un rayo

  12. Urine - abnormal color

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  13. Developmental orthopaedic diseases in foals

    International Nuclear Information System (INIS)

    Developmental Orthopaedic Diseases (DOD) is seen frequently in horses which completed their maturity. Osteochondrosis, physitis, angular limb deformities, flexural deformities, juvenil arthritis, cervical vertebral anomalies, cuboidal bone abnormalities are problems investigated under Developmental Orthopaedic Diseases title. This diseases can develop single or some together in fast growing, heavy animals (especially Arabian and English Thoroughbreds). Multifactorial causes of this diseases etiopathogenesis can be listed as genetic predisposition, trauma, nutrition, vitamins/minerals and endocrine disorders. But the exact causes of these diseases are not known. In this review detailed information are given about the diseases mentioned above

  14. Models of Neurodevelopmental Abnormalities in Schizophrenia

    OpenAIRE

    POWELL, Susan B

    2010-01-01

    The neurodevelopmental hypothesis of schizophrenia asserts that the underlying pathology of schizophrenia has its roots in brain development and that these brain abnormalities do not manifest themselves until adolescence or early adulthood. Animal models based on developmental manipulations have provided insight into the vulnerability of the developing fetus and the importance of the early environment for normal maturation. These models have provided a wide range of validated approaches to an...

  15. Developmental Work

    DEFF Research Database (Denmark)

    Møller, Niels; Hvid, Helge; Kristensen, Tage Søndergaard;

    2003-01-01

    Human Deveoplment and Working Life - Work for Welfare explores whether the development of human resources at company level can improve individuals' quality of life, companies' possibilities of development, and welfare and democracy in society. Chapter two discuss the concept "developmental work...

  16. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

    Directory of Open Access Journals (Sweden)

    Maria Maurer

    2015-07-01

    Full Text Available Background: Selecting the best embryo for transfer, with the highest chance of achieving a vital pregnancy, is a major goal in current in vitro fertilization (IVF technology. The high rate of embryonic developmental arrest during IVF treatment is one of the limitations in achieving this goal. Chromosomal abnormalities are possibly linked with chromosomal arrest and selection against abnormal fertilization products. The objective of this study was to evaluate the frequency and type of chromosomal abnormalities in preimplantation embryos with developmental arrest. Materials and Methods: This cohort study included blastomeres of embryos with early developmental arrest that were biopsied and analyzed by fluorescence in-situ hybridization (FISH with probes for chromosomes 13, 16, 18, 21 and 22. Forty-five couples undergoing IVF treatment were included, and 119 arrested embryos were biopsied. All probes were obtained from the Kinderwunsch Zentrum, Linz, Austria, between August 2009 and August 2011. Results: Of these embryos, 31.6% were normal for all chromosomes tested, and 68.4% were abnormal. Eleven embryos were uniformly aneuploid, 20 were polyploid, 3 were haploid, 11 displayed mosaicism and 22 embryos exhibited chaotic chromosomal complement. Conclusion: Nearly 70% of arrested embryos exhibit chromosomal errors, making chromosomal abnormalities a major cause of embryonic arrest and may be a further explanation for the high developmental failure rates during culture of the embryos in the IVF setting.

  17. Chromosomal Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-07-01

    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  18. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  19. Developmental Scaffolding

    DEFF Research Database (Denmark)

    Giorgi, Franco; Bruni, Luis Emilio

    2015-01-01

    The concept of scaffolding has wide resonance in several scientific fields. Here we attempt to adopt it for the study of development. In this perspective, the embryo is conceived as an integral whole, comprised of several hierarchical modules as in a recurrent circularity of emerging patterns...... molecular signalling to the complexity of sign recognition proper of a cellular community. In this semiotic perspective, the apparent goal directness of any developmental strategy should no longer be accounted for by a predetermined genetic program, but by the gradual definition of the relationships...

  20. Abnormal protein aggregationand neurodegenerativediseases

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Abnormal protein aggregation or amyloid is the major cause ofmany neurodegenerative disorders. The present review focuses on the correlation between sequence and structure features of proteins related to the diseases and abnormal protein aggregation. Recent progress has improved our knowledge on understand-ing the mechanism of amyloid formation. We suggest a nucleation model for ordered protein aggregation, which can also explain pathogenesis mechanisms of these neurodegenerative diseases in vivo.

  1. Gross Motor Development, Movement Abnormalities, and Early Identification of Autism

    Science.gov (United States)

    Ozonoff, Sally; Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

    2008-01-01

    Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with…

  2. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    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.

  3. Developmental dyslexia.

    Science.gov (United States)

    Peterson, Robin L; Pennington, Bruce F

    2015-01-01

    This review uses a levels-of-analysis framework to summarize the current understanding of developmental dyslexia's etiology, brain bases, neuropsychology, and social context. Dyslexia is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading/language networks. The neurocognitive influences on dyslexia are also multifactorial and involve phonological processing deficits as well as weaknesses in other oral language skills and processing speed. We address contextual issues such as how dyslexia manifests across languages and social classes as well as what treatments are best supported. Throughout the review, we highlight exciting new research that cuts across levels of analysis. Such work promises eventually to provide a comprehensive explanation of the disorder as well as its prevention and remediation.

  4. Developmental dyslexia.

    Science.gov (United States)

    Peterson, Robin L; Pennington, Bruce F

    2015-01-01

    This review uses a levels-of-analysis framework to summarize the current understanding of developmental dyslexia's etiology, brain bases, neuropsychology, and social context. Dyslexia is caused by multiple genetic and environmental risk factors as well as their interplay. Several candidate genes have been identified in the past decade. At the brain level, dyslexia is associated with aberrant structure and function, particularly in left hemisphere reading/language networks. The neurocognitive influences on dyslexia are also multifactorial and involve phonological processing deficits as well as weaknesses in other oral language skills and processing speed. We address contextual issues such as how dyslexia manifests across languages and social classes as well as what treatments are best supported. Throughout the review, we highlight exciting new research that cuts across levels of analysis. Such work promises eventually to provide a comprehensive explanation of the disorder as well as its prevention and remediation. PMID:25594880

  5. [Hair shaft abnormalities].

    Science.gov (United States)

    Itin, P H; Düggelin, M

    2002-05-01

    Hair shaft disorders may lead to brittleness and uncombable hair. In general the hair feels dry and lusterless. Hair shaft abnormalities may occur as localized or generalized disorders. Genetic predisposition or exogenous factors are able to produce and maintain hair shaft abnormalities. In addition to an extensive history and physical examination the most important diagnostic examination to analyze a hair shaft problem is light microscopy. Therapy of hair shaft disorders should focus to the cause. In addition, minimizing traumatic influences to hair shafts, such as dry hair with an electric dryer, permanent waves and dyes is important. A short hair style is more suitable for such patients with hair shaft disorders.

  6. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje;

    2014-01-01

    was performed. MRI assessment included age-related white matter changes (ARWMC) grading (mild, moderate, severe according to the Fazekas' scale), count of lacunar and non-lacunar infarcts, and global atrophy rating. Of the 633 (out of the 639 enrolled) patients with follow-up information (mean age 74.1 ± 5......, presence and number of neurological examination abnormalities predicted global functional decline independent of MRI lesions typical of the aging brain and other determinants of disability in the elderly. Systematically checking for neurological examination abnormalities in older patients may be cost...

  7. Developmental dyspraxia and developmental coordination disorder.

    Science.gov (United States)

    Miyahara, M; Möbs, I

    1995-12-01

    This article discusses the role developmental dyspraxia plays in developmental coordination disorder (DCD), based upon a review of literature on apraxia, developmental dyspraxia, and DCD. Apraxia and dyspraxia have often been equated with DCD. However, it is argued that apraxia and dyspraxia primarily refer to the problems of motor sequencing and selection, which not all children with DCD exhibit. The author proposes to distinguish developmental dyspraxia from DCD. Other issues discussed include the assessment, etiology, and treatment of developmental dyspraxia and DCD, and the relationship between DCD and learning disabilities. A research agenda is offered regarding future directions to overcome current limitation. PMID:8866511

  8. Abnormal ionization in sonoluminescence

    Institute of Scientific and Technical Information of China (English)

    张文娟; 安宇

    2015-01-01

    Sonoluminescence is a complex phenomenon, the mechanism of which remains unclear. The present study reveals that an abnormal ionization process is likely to be present in the sonoluminescing bubble. To fit the experimental data of previous studies, we assume that the ionization energies of the molecules and atoms in the bubble decrease as the gas density increases and that the decrease of the ionization energy reaches about 60%–70%as the bubble flashes, which is difficult to explain by using previous models.

  9. Ultrasonography of splenic abnormalities

    Institute of Scientific and Technical Information of China (English)

    Ming-Jen Chen; Ming-Jer Huang; Wen-Hsiung Chang; Tsang-En Wang; Horng-Yuan Wang; Cheng-Hsin Chu; Shee-Chan Lin; Shou-Chuan Shih

    2005-01-01

    AIM: This report gives a comprehensive overview of ultrasonography of splenic abnormalities. Certain ultrasonic features are also discussed with pathologic correlation.METHODS: We review the typical ultrasonic characteristics of a wide range of splenic lesions, illustrating them with images obtained in our institution from 2000 to 2003.One hundred and three patients (47 men, 56 women),with a mean age of 54 years (range 9-92 years), were found to have an abnormal ultrasonic pattern of spleen.RESULTS: We describe the ultrasonic features of various splenic lesions such as accessory spleen, splenomegaly,cysts, cavernous hemangiomas, lymphomas, abscesses,metastatic tumors, splenic infarctions, hematomas, and rupture, based on traditional gray-scale and color Doppler sonography.CONCLUSION: Ultrasound is a widely available, noninvasive,and useful means of diagnosing splenic abnormalities. A combination of ultrasonic characteristics and clinical data may provide an accurate diagnosis. If the US appearance alone is not enough, US may also be used to guide biopsy of suspicious lesions.

  10. Ultrasonography for evaluating abnormal values of the osseous acetabulum angle in pediatric developmental dysplasia of the hip%超声观察骨性髋臼角度评价婴幼儿发育性髋关节异常的价值

    Institute of Scientific and Technical Information of China (English)

    栗平; 郭志英; 窦蕊

    2013-01-01

    [Objective] To determine the clinical significance of Graf' s ultrasound examination in the diagnosis of pediatric developmental dysplasia of the hip.[Methods] We studied abnormal hips of 108 infants (216 hips; 35 boys,73 girls; mean age,45 days [range,8 days to 6 months]) with suspected developmental hip dysplasia between August 2010 and September 2012.Graf's conventional ultrasonography examination was used to measure angles a and b to evaluate coronal acetabular form and femoral head position in both hips.For analysis,hips were classified according to the related risk factors.[Results]According to Graf's ultrasound classification,the hips were classified as follows:type Ⅰ,186 (86.1%) ; type Ⅱa,10 (4.9%) ;type Ⅱb,12 (6.0%) ; type Ⅱc,2 (1.1%) ; type Ⅲ,4 (1.9%) ; and type Ⅳ,2 (1.0%).Type D was not seen.Angle a =60° was representative of hip joint osteoarthritis,good concave growth,concave and deep joint socket,and a femoral head that was not easily dislocated.Angle a < 60° was representative of hip joint osteoarthritis,concave dysplasia,relatively shallow or flat joint socket,and a femoral head that was easily dislocated.There was a statistical significant difference in the acetabular angle between boys and girls (P < 0.05).Therefore,sex had an influence on osseous acetabular development.A comparison of left and right hips showed that the right a angle was correlated with the left (P < 0.05).[Conclusion] Ultrasonography can be used to accurately evaluate developmental hip dysplasia in children and can contribute to early diagnosis and effective treatment.%[目的]研究Graf超声检查方法在诊断婴幼儿发育性髋关节异常中的临床价值.[方法]选择2010年8月~ 2012年9月来本院就诊临床疑似发育性髋关节异常的婴幼儿108例(216个髋关节),其中男婴幼儿35例,女婴幼儿73例;年龄8d~6个月,平均45 d;依据Graf常规超声检查法,通过测量α、β角度,评估双侧髋关节髋

  11. Abnormal ionization in sonoluminescence

    Science.gov (United States)

    Zhang, Wen-Juan; An, Yu

    2015-04-01

    Sonoluminescence is a complex phenomenon, the mechanism of which remains unclear. The present study reveals that an abnormal ionization process is likely to be present in the sonoluminescing bubble. To fit the experimental data of previous studies, we assume that the ionization energies of the molecules and atoms in the bubble decrease as the gas density increases and that the decrease of the ionization energy reaches about 60%-70% as the bubble flashes, which is difficult to explain by using previous models. Project supported by the Research Fund for the Doctoral Program of Higher Education of China (Grant No. 20120002110031) and the National Natural Science Foundation of China (Grant No. 11334005).

  12. Developmental reading disorder

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001406.htm Developmental reading disorder To use the sharing features on this page, please enable JavaScript. Developmental reading disorder is a reading disability that occurs when ...

  13. Neuronal migration abnormalities and its possible implications for schizophrenia

    OpenAIRE

    Muraki, Kazue; Tanigaki, Kenji

    2015-01-01

    Schizophrenia is a complex mental disorder that displays behavioral deficits such as decreased sensory gating, reduced social interaction and working memory deficits. The neurodevelopmental model is one of the widely accepted hypotheses of the etiology of schizophrenia. Subtle developmental abnormalities of the brain which stated long before the onset of clinical symptoms are thought to lead to the emergence of illness. Schizophrenia has strong genetic components but its underlying molecular ...

  14. Ethical Considerations In Dental Care For People With Developmental Disabilities

    OpenAIRE

    Biris Carmen; Bud Eugen; Ormenian Alina; Lazar Ana Petra; Pop Diana; Yero Eremie Lia Maria; Lazar Luminita

    2016-01-01

    Developmental disabilities exist in children and adolescents, enabling them to live an independent and self-governing life, requiring special health related services. We are intended to inform dental professionals in planning and implementing a dental treatment for people with developmental disabilities. Cerebral palsy is defined as being a group of motor abnormalities and functional impairments that affect muscle coordination, and characterized by uncontrolled body movements, intellectual di...

  15. A Rare Stapes Abnormality

    Directory of Open Access Journals (Sweden)

    Hala Kanona

    2015-01-01

    Full Text Available The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively.

  16. What is developmental dyspraxia?

    Science.gov (United States)

    Dewey, D

    1995-12-01

    The idea of developmental dyspraxia has been discussed in the research literature for almost 100 years. However, there continues to be a lack of consensus regarding both the definition and description of this disorder. This paper presents a neuropsychologically based operational definition of developmental dyspraxia that emphasizes that developmental dyspraxia is a disorder of gesture. Research that has investigated the development of praxis is discussed. Further, different types of gestural disorders displayed by children and different mechanisms that underlie developmental dyspraxia are compared to and contrasted with adult acquired apraxia. The impact of perceptual-motor, language, and cognitive impairments on children's gestural development and the possible associations between these developmental disorders and developmental dyspraxia are also examined. Also, the relationship among limb, orofacial, and verbal dyspraxia is discussed. Finally, problems that exist in the neuropsychological assessment of developmental dyspraxia are discussed and recommendations concerning what should be included in such an assessment are presented. PMID:8838385

  17. MRI of a family with focal abnormalities of gyration

    Energy Technology Data Exchange (ETDEWEB)

    Muntaner, L. [Department of Radiology, Son Dureta University Hospital, Palma de Mallorca (Spain)]|[Avda Alejandro Rossello 27, E-07002 Palma de Mallorca (Spain); Perez-Ferron, J.J. [Department of Pediatrics, Son Dureta University Hospital, Palma de Mallorca (Spain); Herrera, M. [Department of Radiology, Son Dureta University Hospital, Palma de Mallorca (Spain); Rosell, J. [Department of Genetics, Son Dureta University Hospital, Palma de Mallorca (Spain); Taboada, D. [Clinica Femenia, Palma de Mallorca (Spain); Climent, S. [Department of Pediatrics, Son Dureta University Hospital, Palma de Mallorca (Spain)

    1997-08-01

    Focal abnormalities of gyration (FAG) are developmental disorders that may occur in isolated patients or, as in the case being reported, as part of a familial disorder. Analysis of individuals in a family spanning three generations was carried out using MRI. Abnormalities, present in all members of generations II and III, included focal cortical dysplasia (three patients), focal cortical infolding (two patients) and schizencephaly (one patient); associated minor anomalies, such as white matter abnormalities, were seen in the remaining three members of generations II and III. MRI recognition of FAG in the family being reported proved useful in defining their phenotypical expression and providing proper counselling for individual family members. (orig.). With 6 figs.

  18. Abnormal uterine bleeding.

    Science.gov (United States)

    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

  19. Ictal Cardiac Ryhthym Abnormalities.

    Science.gov (United States)

    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

  20. Communication and abnormal behaviour.

    Science.gov (United States)

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential).

  1. Communication and abnormal behaviour.

    Science.gov (United States)

    Crown, S

    1979-01-01

    In this paper the similarities between normal and abnormal behaviour are emphasized and selected aspects of communication, normal and aberrant, between persons are explored. Communication in a social system may be verbal or non-verbal: one person's actions cause a response in another person. This response may be cognitive, behavioural or physiological. Communication may be approached through the individual, the social situation or social interaction. Psychoanalysis approaches the individual in terms of the coded communications of psychoneurotic symptoms or psychotic behaviour; the humanist-existential approach is concerned more with emotional expression. Both approaches emphasize the development of individual identity. The interaction between persons and their social background is stressed. Relevant are sociological concepts such as illness behaviour, stigma, labelling, institutionalization and compliance. Two approaches to social interactions are considered: the gamesplaying metaphor, e.g. back pain as a psychosocial manipulation--the 'pain game'; and the 'spiral of reciprocal perspectives' which emphasizes the interactional complexities of social perceptions. Communicatory aspects of psychological treatments are noted: learning a particular metaphor such as 'resolution' of the problem (psychotherapy), learning more 'rewarding' behaviour (learning theory) or learning authenticity or self-actualization (humanist-existential). PMID:261653

  2. Systemic abnormalities in liver disease

    Institute of Scientific and Technical Information of China (English)

    Masami Minemura; Kazuto Tajiri; Yukihiro Shimizu

    2009-01-01

    Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases.

  3. Abnormal pressure in hydrocarbon environments

    Science.gov (United States)

    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.

  4. [Walking abnormalities in children].

    Science.gov (United States)

    Segawa, Masaya

    2010-11-01

    Walking is a spontaneous movement termed locomotion that is promoted by activation of antigravity muscles by serotonergic (5HT) neurons. Development of antigravity activity follows 3 developmental epochs of the sleep-wake (S-W) cycle and is modulated by particular 5HT neurons in each epoch. Activation of antigravity activities occurs in the first epoch (around the age of 3 to 4 months) as restriction of atonia in rapid eye movement (REM) stage and development of circadian S-W cycle. These activities strengthen in the second epoch, with modulation of day-time sleep and induction of crawling around the age of 8 months and induction of walking by 1 year. Around the age of 1 year 6 months, absence of guarded walking and interlimb cordination is observed along with modulation of day-time sleep to once in the afternoon. Bipedal walking in upright position occurs in the third epoch, with development of a biphasic S-W cycle by the age of 4-5 years. Patients with infantile autism (IA), Rett syndrome (RTT), or Tourette syndrome (TS) show failure in the development of the first, second, or third epoch, respectively. Patients with IA fail to develop interlimb coordination; those with RTT, crawling and walking; and those with TS, walking in upright posture. Basic pathophysiology underlying these condition is failure in restricting atonia in REM stage; this induces dysfunction of the pedunculopontine nucleus and consequently dys- or hypofunction of the dopamine (DA) neurons. DA hypofunction in the developing brain, associated with compensatory upward regulation of the DA receptors causes psychobehavioral disorders in infancy (IA), failure in synaptogenesis in the frontal cortex and functional development of the motor and associate cortexes in late infancy through the basal ganglia (RTT), and failure in functional development of the prefrontal cortex through the basal ganglia (TS). Further, locomotion failure in early childhood causes failure in development of functional

  5. Developmental dysplasia of the hip

    Directory of Open Access Journals (Sweden)

    Shahryar Noordin

    2010-10-01

    Full Text Available Developmental dysplasia of the hip (DDH is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum. Most studies report an incidence of 1 to 34 cases per 1,000 live births and differences could be due to different diagnostic methods and timing of evaluation. Risk factors include first born status, female sex, positive family history, breech presentation and oligohydramnios. Clinical presentations of DDH depend on the age of the child. Newborns present with hip instability, infants have limited hip abduction on examination, and older children and adolescents present with limping, joint pain, and/or osteoarthritis. Repeated, careful examination of all infants from birth and throughout the first year of life until the child begins walking is important to prevent late cases. Provocative testing includes the Barlow and Ortolani maneuvers. Other signs, such as shorting of the femur with hips and knees flexed (Galeazzi sign, asymmetry of the thigh or gluteal folds, and discrepancy of leg lengths are potential clues. Treatment depends on age at presentation and outcomes are much better when the child is treated early, particularly during the first six months of life.

  6. Radiological findings in autistic and developmentally delayed children.

    NARCIS (Netherlands)

    Zeegers, M.; Grond, J. van der; Durston, S.; Nievelstein, R.J.; Witkamp, T.; Daalen, E. van; Buitelaar, J.K.; Engeland, H.V.

    2006-01-01

    PURPOSE: The aim of this study was to evaluate the prevalence of brain abnormalities in a group of young children with developmental disorders, specifically including children that came to the attention of a child psychiatrist before the age of 3 years. METHODS: Forty-five children participated in a

  7. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Wyrobek, A J

    2005-04-05

    Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

  8. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  9. Skin - abnormally dark or light

    Science.gov (United States)

    ... ency/article/003242.htm Skin - abnormally dark or light To use the sharing features on this page, ... the hands. The bronze color can range from light to dark (in fair-skinned people) with the ...

  10. Developmental Ethanol Exposure Leads to Dysregulation of Lipid Metabolism and Oxidative Stress in Drosophila

    Science.gov (United States)

    Logan-Garbisch, Theresa; Bortolazzo, Anthony; Luu, Peter; Ford, Audrey; Do, David; Khodabakhshi, Payam; French, Rachael L.

    2014-01-01

    Ethanol exposure during development causes an array of developmental abnormalities, both physiological and behavioral. In mammals, these abnormalities are collectively known as fetal alcohol effects (FAE) or fetal alcohol spectrum disorder (FASD). We have established a Drosophila melanogaster model of FASD and have previously shown that developmental ethanol exposure in flies leads to reduced expression of insulin-like peptides (dILPs) and their receptor. In this work, we link that observation to dysregulation of fatty acid metabolism and lipid accumulation. Further, we show that developmental ethanol exposure in Drosophila causes oxidative stress, that this stress is a primary cause of the developmental lethality and delay associated with ethanol exposure, and, finally, that one of the mechanisms by which ethanol increases oxidative stress is through abnormal fatty acid metabolism. These data suggest a previously uncharacterized mechanism by which ethanol causes the symptoms associated with FASD. PMID:25387828

  11. Life Span Developmental Approach

    Directory of Open Access Journals (Sweden)

    Ali Eryilmaz

    2011-03-01

    Full Text Available The Life Span Developmental Approach examines development of individuals which occurs from birth to death. Life span developmental approach is a multi-disciplinary approach related with disciplines like psychology, psychiatry, sociology, anthropology and geriatrics that indicates the fact that development is not completed in adulthood, it continues during the life course. Development is a complex process that consists of dying and death. This approach carefully investigates the development of individuals with respect to developmental stages. This developmental approach suggests that scientific disciplines should not explain developmental facts only with age changes. Along with aging, cognitive, biological, and socioemotional development throughout life should also be considered to provide a reasonable and acceptable context, guideposts, and reasonable expectations for the person. There are three important subjects whom life span developmental approach deals with. These are nature vs nurture, continuity vs discontinuity, and change vs stability. Researchers using life span developmental approach gather and produce knowledge on these three most important domains of individual development with their unique scientific methodology.

  12. Memetics clarification of abnormal behavior

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: Biological medicine is hard to fully and scientifically explain the etiological factor and pathogenesis of abnormal behaviors; while, researches on philosophy and psychology (including memetics) are beneficial to better understand and explain etiological factor and pathogenesis of abnormal behaviors. At present, the theory of philosophy and psychology is to investigate the entity of abnormal behavior based on the views of memetics.METHODS: Abnormal behavior was researched in this study based on three aspects, including instinctive behavior disorder, poorly social-adapted behavior disorder and mental or body disease associated behavior disorder. Most main viewpoints of memetics were derived from "The Meme Machine", which was written by Susan Blackmore. When questions about abnormal behaviors induced by mental and psychological diseases and conduct disorder of teenagers were discussed, some researching achievements which were summarized by authors previously were added in this study, such as aggressive behaviors, pathologically aggressive behaviors, etc.RESULTS: The abnormal behaviors mainly referred to a part of people's substandard behaviors which were not according with the realistic social environment, culture background and the pathologic behaviors resulted from people's various psychological diseases. According to the theory of "meme", it demonstrated that the relevant behavioral obstacles of various psychological diseases, for example, the unusual behavior of schizophrenia, were caused, because the old meme was destroyed thoroughly but the new meme was unable to establish; psychoneurosis and personality disorder were resulted in hard establishment of meme; the behavioral obstacles which were ill-adapted to society, for example, various additional and homosexual behaviors, were because of the selfish replications and imitations of "additional meme" and "homosexual meme"; various instinct behavioral and congenital intelligent obstacles were not significance

  13. Thyroid abnormality in perimenopausal women with abnormal uterine bleeding

    Directory of Open Access Journals (Sweden)

    Prasanna Byna

    2015-11-01

    Full Text Available Background: AUB is a common but complicated clinical presentation and occurs in 15-20% of women between menarche to menopause and significantly affects the women's health. Women with thyroid dysfunction often have menstrual irregularities, infertility and increased morbidity during pregnancy. The objective of present study is to find the correlation between thyroid disorders and AUB in perimenopausal women attending gynecology OPD. Methods: In the present study, fifty five patients with AUB were included and were evaluated for the cause including thyroid abnormality. Thyroid function tests were done in all patients. Results: Among 55 patients, 12 patients were diagnosed as hypothyroidism and 7 as hyperthyroidism, women with AUB 36 (65.4% were euthyroid. Among 19 women with thyroid abnormality, heavy menstrual bleeding was seen in 8 (42% women, 6 (31.57% had polymenorrhagia, 5 (26.31% had oligomenorrhoea. The frequent menstrual abnormality in women with hypothyroidism (12 women was heavy menstrual bleeding in 5 (41.6% women, 3 (25% had oligomennorhoea, 4 (33.3% had polymenorrhagia. Out of 7 women with hyperthyroidism, 2 (28.57% had oligomenorrhoea, 3 (42.8% had heavy menstrual bleeding, 2 (28.57% had polymenorrhagia. In a total of 55 patients with AUB, 11 (20% had structural abnormalities in uterus and ovaries. 5 (9% had adenomyosis, 3 (5.4% had ovarian cysts, 3 (5.4% had fibroids. Conclusions: It is important to screen all women for thyroid abnormality who are presenting with AUB especially with non-structural causes of AUB. Correction of thyroid abnormalities also relieves AUB. This will avoid unnecessary hormonal treatment and surgery. [Int J Res Med Sci 2015; 3(11.000: 3250-3253

  14. CT and MR imaging of odontoid abnormalities: A pictorial review

    Directory of Open Access Journals (Sweden)

    Nishchint Jain

    2016-01-01

    Full Text Available Odontoid process is the central pillar of the craniovertebral junction. Imaging of this small structure continues to be a challenge for the radiologists due to complex bony and ligamentous anatomy. A wide range of developmental and acquired abnormalities of odontoid have been identified. Their accurate radiologic evaluation is important as different lesions have markedly different clinical course, patient management, and prognosis. This article seeks to provide knowledge for interpreting appearances of odontoid on computed tomography (CT and magnetic resonance imaging (MRI with respect to various disease processes, along with providing a quick review of the embryology and relevant anatomy.

  15. Pervasive Developmental Disorders

    Science.gov (United States)

    ... ultimately cure this and similar disorders. NIH Patient Recruitment for Pervasive Developmental Disorders Clinical Trials At NIH ... 1055 (TTY) National Institute of Child Health and Human Information Resource Center P.O. Box 3006 Rockville, MD 20847 ...

  16. Facts about Developmental Disabilities

    Science.gov (United States)

    ... do if you’re concerned » Developmental Monitoring and Screening A child’s growth and development are followed through ... to prevent illness. Some health conditions, such as asthma, gastrointestinal symptoms, eczema and skin allergies, and migraine ...

  17. Towards Deep Developmental Learning

    OpenAIRE

    Sigaud, Olivier; Droniou, Alain

    2016-01-01

    International audience Deep learning techniques are having an undeniable impact on general pattern recognition issues. In this paper, from a developmental robotics perspective, we scrutinize deep learning techniques under the light of their capability to construct a hierarchy of meaningful multimodal representations from the raw sensors of robots. These investigations reveal the differences between the methodological constraints of pattern recognition and those of developmental robotics. I...

  18. Knee loading for abnormal gait

    OpenAIRE

    Hutchison, J.; Madsen, D.; Norman, T. L.; -Blaha, J. D.

    2014-01-01

    The purpose of the study was to develop a mathematical model for determining knee loads for abnormal gait. Abnormal gait was defined as a person with varus, i.e. “bowleggedness”, or a person who had an external rotation of the femur (or the inability to internally rotate the femur) which caused an indirect varus in the forward positions of gait. Conditions such as these have been observed clinically to result in increased wear on the medial condyle of total knee replacements. This problem was...

  19. Cardiac abnormalities after subarachnoid hemorrhage

    NARCIS (Netherlands)

    Bilt, I.A.C. van der

    2016-01-01

    Aneurysmal subarachnoid hemorrhage(aSAH) is a devastating neurological disease. During the course of the aSAH several neurological and medical complications may occur. Cardiac abnormalities after aSAH are observed often and resemble stress cardiomyopathy or Tako-tsubo cardiomyopathy(Broken Heart Syn

  20. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  1. The developmental spectrum of proximal radioulnar synostosis

    Energy Technology Data Exchange (ETDEWEB)

    Elliott, Alison M. [University of Manitoba, Winnipeg Regional Health Association Program of Genetics and Metabolism, Winnipeg, MB (Canada); University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, WRHA Program of Genetics and Metabolism, Departments of Paediatrics and Child Health, Biochemistry and Medical Genetics, Winnipeg, MB (Canada); Kibria, Lisa [University of Manitoba, Department of School of Medical Rehabilitation, Winnipeg, MB (Canada); Reed, Martin H. [University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, Department of Diagnostic Imaging, Winnipeg, MB (Canada)

    2010-01-15

    Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. Records were searched for ''proximal radioulnar fusion/posterior radial head dislocation'' in patients followed at the local Children's Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing 'complete' proximal fusion and others showing fusion that occurred slightly distal to the radial head: 'partially separated.' Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies

  2. Cortical thickness abnormalities associated with dyslexia, independent of remediation status.

    Science.gov (United States)

    Ma, Yizhou; Koyama, Maki S; Milham, Michael P; Castellanos, F Xavier; Quinn, Brian T; Pardoe, Heath; Wang, Xiuyuan; Kuzniecky, Ruben; Devinsky, Orrin; Thesen, Thomas; Blackmon, Karen

    2015-01-01

    Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the "reading network." Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience) remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT), surface area (SA), gray matter volume (GMV), and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1) persistent reading and spelling impairment; (2) remediated reading impairment (normal reading scores), and (3) remediated reading and spelling impairments (normal reading and spelling scores); and a control group of (4) typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same "double hit" of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status.

  3. A study of cluster behavioral abnormalities in down syndrome

    Directory of Open Access Journals (Sweden)

    Bhattacharyya Ranjan

    2009-02-01

    Full Text Available Background :The behavioral phenotype in Down syndrome follows a characteristic pattern. Aims: To find the incidence of behavioral abnormalities in Down syndrome, to compare these findings with other causes of intellectual disability and normal population and to cluster these abnormalities. Settings :One hundred forty mentally challenged people attending at tertiary care set up and from various non-governmental organizations were included in the study. Patients from both rural and urban set up participated in the study. The age-matched group from normal population was also studied for comparison. Design :The study design is a cross-sectional survey done independently by four observers. Materials and Methods :A semi-structured proforma for demographic profile has been used. The behavioral abnormalities are assessed by using DASH II (Diagnostic Assessment for the Severely Handicapped second modified version scale. Statistical Analysis :Demographic comparison has been done by analysis of variance. Correlation matrix has been run to identify correlation between individual items. Principal component analysis has been used for grouping the behavioral pattern. Results :Behavioral abnormalities as expected are more common in people having intellectual disability than the normal population. The Down syndrome group unlike other causes of intellectual disability shows higher scores in Stereotypy. Impulse control and Mania subscales. Factor analysis yields five characteristic factor structures, namely, hyperactive-impulsive, biological functions, affective, neurotic and organic-pervasive developmental disorder clusters. Conclusions :Contrary to the conventional belief of docile-fun and music loving prototype, individuals diagnosed with Down syndrome show clusters of behavioral abnormalities and management can vary depending on these target symptoms.

  4. Cortical thickness abnormalities associated with dyslexia, independent of remediation status

    Science.gov (United States)

    Ma, Yizhou; Koyama, Maki S.; Milham, Michael P.; Castellanos, F. Xavier; Quinn, Brian T.; Pardoe, Heath; Wang, Xiuyuan; Kuzniecky, Ruben; Devinsky, Orrin; Thesen, Thomas; Blackmon, Karen

    2014-01-01

    Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the “reading network.” Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience) remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT), surface area (SA), gray matter volume (GMV), and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1) persistent reading and spelling impairment; (2) remediated reading impairment (normal reading scores), and (3) remediated reading and spelling impairments (normal reading and spelling scores); and a control group of (4) typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same “double hit” of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status. PMID:25610779

  5. Cortical thickness abnormalities associated with dyslexia, independent of remediation status

    Directory of Open Access Journals (Sweden)

    Yizhou Ma

    2015-01-01

    Full Text Available Abnormalities in cortical structure are commonly observed in children with dyslexia in key regions of the “reading network.” Whether alteration in cortical features reflects pathology inherent to dyslexia or environmental influence (e.g., impoverished reading experience remains unclear. To address this question, we compared MRI-derived metrics of cortical thickness (CT, surface area (SA, gray matter volume (GMV, and their lateralization across three different groups of children with a historical diagnosis of dyslexia, who varied in current reading level. We compared three dyslexia subgroups with: (1 persistent reading and spelling impairment; (2 remediated reading impairment (normal reading scores, and (3 remediated reading and spelling impairments (normal reading and spelling scores; and a control group of (4 typically developing children. All groups were matched for age, gender, handedness, and IQ. We hypothesized that the dyslexia group would show cortical abnormalities in regions of the reading network relative to controls, irrespective of remediation status. Such a finding would support that cortical abnormalities are inherent to dyslexia and are not a consequence of abnormal reading experience. Results revealed increased CT of the left fusiform gyrus in the dyslexia group relative to controls. Similarly, the dyslexia group showed CT increase of the right superior temporal gyrus, extending into the planum temporale, which resulted in a rightward CT asymmetry on lateralization indices. There were no group differences in SA, GMV, or their lateralization. These findings held true regardless of remediation status. Each reading level group showed the same “double hit” of atypically increased left fusiform CT and rightward superior temporal CT asymmetry. Thus, findings provide evidence that a developmental history of dyslexia is associated with CT abnormalities, independent of remediation status.

  6. Radiological appearances of sinonasal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    El-Beltagi, A.H.; Sobeih, A.A.; Valvoda, M.; Dahniya, M.H.; Badr, S.S

    2002-08-01

    The aim of this pictorial review is to present a variety of abnormalities of the sinonasal cavities to emphasize the diversity of lesions occurring in this region. These include congenital, neoplastic and granulomatous disorders and some allergic and inflammatory lesions with uncommon radiological appearances, as well as expanding lesions of the facial bones or of dental origin with secondary involvement of the related sinus(es). El-Beltagi, A.H. et al. (2002). Clinical Radiology 57, 702-718.

  7. Is Dark Energy Abnormally Weighting?

    OpenAIRE

    Fuzfa, A.; Alimi, J. -M.

    2006-01-01

    We present a new interpretation of dark energy in terms of an \\textit{Abnormally Weighting Energy} (AWE). This means that dark energy does not couple to gravitation in the same way as ordinary matter, yielding a violation of the weak and strong equivalence principles on cosmological scales. The resulting cosmological mechanism accounts for the Hubble diagram of type Ia supernovae in terms of both cosmic acceleration and variation of the gravitational constant while still accounting for the pr...

  8. Developmental dyslexia: dysfunction of a left hemisphere reading network

    Directory of Open Access Journals (Sweden)

    Fabio eRichlan

    2012-05-01

    Full Text Available This mini-review summarizes and integrates findings from recent meta-analyses and original neuroimaging studies on functional brain abnormalities in dyslexic readers. Surprisingly, there is little empirical support for the standard neuroanatomical model of developmental dyslexia, which localizes the primary phonological decoding deficit in left temporo-parietal regions. Rather, recent evidence points to a dysfunction of a left hemisphere reading network, which includes occipito-temporal, inferior frontal, and inferior parietal regions.

  9. The Abnormal Choroidal Vessels in Aged Patients

    Institute of Scientific and Technical Information of China (English)

    Shizhou Huang; Feng Wen; Dezheng Wu; Guangwei Luo; Caijiao Liu

    2002-01-01

    Background: To show the abnormal choroidal vessels in aged patients with indocyanine-green angiography (ICGA).Methods: ICGA was performed in 350 patients with TOPCON TRC-50IA fundus camera.The images were recorded and retrospectively reviewed.Results: Five aged patients out of 350 cases were found to have abnormal choroidalvessels. The incidence was 1.43%. The abnormal choroidal vessels showed round- shapet,focal enlargement, abnormal shape and entrance, satellite appearance, and vascularloops. These might be due to congenital abnormality of choroid.Conclusion: ICGA could be used to observe the abnormal choroidal vessels.

  10. The Developmental Work

    DEFF Research Database (Denmark)

    Møller, Niels; Hvid, Helge

    2001-01-01

    AbstractIn the nineties, the concept of the developmental work (DW) has become a significant point of orientation for the actors on Danish labour market. The DW has moved the focus of the labour market from wages and working time towards work and production. For employees, the DW promises...

  11. Arguments from Developmental Order.

    Science.gov (United States)

    Stöckle-Schobel, Richard

    2016-01-01

    In this article, I investigate a special type of argument regarding the role of development in theorizing about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind - getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories. Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasizing the importance of the early cognitive processes and arguments emphasizing the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive) development, and I will present some topics that also pertain to a full-fledged 'philosophy of development.' PMID:27242648

  12. Arguments from Developmental Order

    Directory of Open Access Journals (Sweden)

    Richard eStöckle-Schobel

    2016-05-01

    Full Text Available In this article, I investigate a special type of argument regarding the role of development in theorising about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind – getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories.Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasising the importance of the early cognitive processes and arguments emphasising the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive development, and I will present some topics that also pertain to a full-fledged ‘philosophy of development’.

  13. Developmental paediatric anaesthetic pharmacology

    DEFF Research Database (Denmark)

    Hansen, Tom Giedsing

    2015-01-01

    Safe and effective drug therapy in neonates, infants and children require detailed knowledge about the ontogeny of drug disposition and action as well how these interact with genetics and co-morbidity of children. Recent advances in developmental pharmacology in children follow the increased...

  14. Arguments from Developmental Order.

    Science.gov (United States)

    Stöckle-Schobel, Richard

    2016-01-01

    In this article, I investigate a special type of argument regarding the role of development in theorizing about psychological processes and cognitive capacities. Among the issues that developmental psychologists study, discovering the ontogenetic trajectory of mechanisms or capacities underpinning our cognitive functions ranks highly. The order in which functions are developed or capacities are acquired is a matter of debate between competing psychological theories, and also philosophical conceptions of the mind - getting the role and the significance of the different steps in this order right could be seen as an important virtue of such theories. Thus, a special kind of strategy in arguments between competing philosophical or psychological theories is using developmental order in arguing for or against a given psychological claim. In this article, I will introduce an analysis of arguments from developmental order, which come in two general types: arguments emphasizing the importance of the early cognitive processes and arguments emphasizing the late cognitive processes. I will discuss their role in one of the central tools for evaluating scientific theories, namely in making inferences to the best explanation. I will argue that appeal to developmental order is, by itself, an insufficient criterion for theory choice and has to be part of an argument based on other core explanatory or empirical virtues. I will end by proposing a more concerted study of philosophical issues concerning (cognitive) development, and I will present some topics that also pertain to a full-fledged 'philosophy of development.'

  15. Developmental origins of inflammatory and immune diseases.

    Science.gov (United States)

    Chen, Ting; Liu, Han-Xiao; Yan, Hui-Yi; Wu, Dong-Mei; Ping, Jie

    2016-08-01

    Epidemiological and experimental animal studies show that suboptimal environments in fetal and neonatal life exert a profound influence on physiological function and risk of diseases in adult life. The concepts of the 'developmental programming' and Developmental Origins of Health and Diseases (DOHaD) have become well accepted and have been applied across almost all fields of medicine. Adverse intrauterine environments may have programming effects on the crucial functions of the immune system during critical periods of fetal development, which can permanently alter the immune function of offspring. Immune dysfunction may in turn lead offspring to be susceptible to inflammatory and immune diseases in adulthood. These facts suggest that inflammatory and immune disorders might have developmental origins. In recent years, inflammatory and immune disorders have become a growing health problem worldwide. However, there is no systematic report in the literature on the developmental origins of inflammatory and immune diseases and the potential mechanisms involved. Here, we review the impacts of adverse intrauterine environments on the immune function in offspring. This review shows the results from human and different animal species and highlights the underlying mechanisms, including damaged development of cells in the thymus, helper T cell 1/helper T cell 2 balance disturbance, abnormal epigenetic modification, effects of maternal glucocorticoid overexposure on fetal lymphocytes and effects of the fetal hypothalamic-pituitary-adrenal axis on the immune system. Although the phenomena have already been clearly implicated in epidemiologic and experimental studies, new studies investigating the mechanisms of these effects may provide new avenues for exploiting these pathways for disease prevention. PMID:27226490

  16. Developmental origins of inflammatory and immune diseases.

    Science.gov (United States)

    Chen, Ting; Liu, Han-Xiao; Yan, Hui-Yi; Wu, Dong-Mei; Ping, Jie

    2016-08-01

    Epidemiological and experimental animal studies show that suboptimal environments in fetal and neonatal life exert a profound influence on physiological function and risk of diseases in adult life. The concepts of the 'developmental programming' and Developmental Origins of Health and Diseases (DOHaD) have become well accepted and have been applied across almost all fields of medicine. Adverse intrauterine environments may have programming effects on the crucial functions of the immune system during critical periods of fetal development, which can permanently alter the immune function of offspring. Immune dysfunction may in turn lead offspring to be susceptible to inflammatory and immune diseases in adulthood. These facts suggest that inflammatory and immune disorders might have developmental origins. In recent years, inflammatory and immune disorders have become a growing health problem worldwide. However, there is no systematic report in the literature on the developmental origins of inflammatory and immune diseases and the potential mechanisms involved. Here, we review the impacts of adverse intrauterine environments on the immune function in offspring. This review shows the results from human and different animal species and highlights the underlying mechanisms, including damaged development of cells in the thymus, helper T cell 1/helper T cell 2 balance disturbance, abnormal epigenetic modification, effects of maternal glucocorticoid overexposure on fetal lymphocytes and effects of the fetal hypothalamic-pituitary-adrenal axis on the immune system. Although the phenomena have already been clearly implicated in epidemiologic and experimental studies, new studies investigating the mechanisms of these effects may provide new avenues for exploiting these pathways for disease prevention.

  17. Qualitative methodology in developmental psychology

    DEFF Research Database (Denmark)

    Demuth, Carolin; Mey, Günter

    2015-01-01

    Qualitative methodology presently is gaining increasing recognition in developmental psychology. Although the founders of developmental psychology to a large extent already used qualitative procedures, the field was long dominated by a (post) positivistic quantitative paradigm. The increasing...

  18. Neuronal migration abnormalities and its possible implications for schizophrenia

    Directory of Open Access Journals (Sweden)

    Kenji eTanigaki

    2015-03-01

    Full Text Available Schizophrenia is a complex mental disorder that displays behavioral deficits such as decreased sensory gating, reduced social interaction and working memory deficits. The neurodevelopmental model is one of the widely accepted hypotheses of the etiology of schizophrenia. Subtle developmental abnormalities of the brain which stated long before the onset of clinical symptoms are thought to lead to the emergence of illness. Schizophrenia has strong genetic components but its underlying molecular pathogenesis is still poorly understood. Genetic linkage and association studies have identified several genes involved in neuronal migrations as candidate susceptibility genes for schizophrenia, although their effect size is small. Recent progress in copy number variation studies also has identified much higher risk loci such as 22q11. Based on these genetic findings, we are now able to utilize genetically-defined animal models. Here we summarize the results of neurodevelopmental and behavioral analysis of genetically-defined animal models. Furthermore, animal model experiments have demonstrated that embryonic and perinatal neurodevelopmental insults in neurogenesis and neuronal migrations cause neuronal functional and behavioral deficits in affected adult animals, which are similar to those of schizophrenic patients. However, these findings do not establish causative relationship. Genetically-defined animal models are a critical approach to explore the relationship between neuronal migration abnormalities and behavioral abnormalities relevant to Schizophrenia.

  19. Juvenile antioxidant treatment prevents adult deficits in a developmental model of schizophrenia

    OpenAIRE

    Cabungcal, Jan Harry; Counotte, Danielle S.; Lewis, Eastman; Tejeda, Hugo A.; Piantadosi, Patrick; Pollock, Cameron; Calhoon, Gwendolyn G.; Sullivan, Elyse; Presgraves, Echo; Kil, Jonathan; Hong, L. Elliot; Cuenod, Michel; Kim Q Do; O'Donnell, Patricio

    2014-01-01

    Abnormal development can lead to deficits in adult brain function, a trajectory likely underlying adolescent-onset psychiatric conditions such as schizophrenia. Developmental manipulations yielding adult deficits in rodents provide an opportunity to explore mechanisms involved in a delayed emergence of anomalies driven by developmental alterations. Here we assessed whether oxidative stress during presymptomatic stages causes adult anomalies in rats with a neonatal ventral hippocampal lesion, ...

  20. Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome.

    Science.gov (United States)

    Yassin, Othman M; Rihani, Farouk B

    2006-01-01

    Concurrent existence of multiple developmental dental anomalies: hypodontia of permanent mandibular incisors, dentin dysplasia, transmigration, root dilaceration, ectopic eruption and delayed eruption combined with systemic abnormalities including joint hyperlaxity and skin hyperextensibility aided in diagnosis of a sporadic case of hypermobility type of Ehlers-Danlos syndrome in a Jordanian Arab male. In dental practice the presence of multiple developmental dental anomalies expressing simultaneous defects in different stages of tooth development should raise suspicion of possible of manifestation of an underlying systemic abnormality. PMID:16937863

  1. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

    OpenAIRE

    L. Y. Pylyp; L. A. Spinenko; V. D. Zukin; N. M. Bilko

    2013-01-01

    Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intrac...

  2. Brain MR imaging in children with psychomotor developmental delay

    Energy Technology Data Exchange (ETDEWEB)

    Hirai, Toshinori; Korogi, Yukunori; Sakamoto, Yuji; Furusawa, Mitsuhiro; Hamatake, Satoshi; Takahashi, Mutsumasa (Kumamoto Univ. (Japan). School of Medicine)

    1994-06-01

    Fifty-two patients with developmental delay of unknown cause underwent MR imaging of the brain. Their ages ranged from 5 months to 22 years, with a mean of 2.2 years. Thirty-seven (71%) had positive MR findings, including nine with congenital malformation, nine with atrophy, six with white matter lesion, five with delayed myelination, five with atrophy and delayed myelination, two with acquired injury of corpus callosum, and one with ulegyria. Congenital malformations obtained included holoprosencephaly, polymicrogyria, dysgenesis of corpus callosum, hypoplasia of cerebellum, and tuberous sclerosis. Abnormal MR findings were frequently observed both in the children with neurologic physical findings and in generally retarded children, while in the children with suspected autism, MR imaging did not demonstrate any abnormalities. Of 24 patients with epilepsy, abnormal MR findings were obtained in 17 patients (71%). The frequency of white matter lesion and atrophy was slightly higher in the patients with epilepsy. However, no significant correlations were found between MR findings and the presence of epilepsy. Also, no significant correlations were obtained between MR findings and the degree of developmental quotient (DQ). Severely injured cases did not necessarily show abnormal findings on MRI. (author).

  3. Brain MR imaging in children with psychomotor developmental delay

    International Nuclear Information System (INIS)

    Fifty-two patients with developmental delay of unknown cause underwent MR imaging of the brain. Their ages ranged from 5 months to 22 years, with a mean of 2.2 years. Thirty-seven (71%) had positive MR findings, including nine with congenital malformation, nine with atrophy, six with white matter lesion, five with delayed myelination, five with atrophy and delayed myelination, two with acquired injury of corpus callosum, and one with ulegyria. Congenital malformations obtained included holoprosencephaly, polymicrogyria, dysgenesis of corpus callosum, hypoplasia of cerebellum, and tuberous sclerosis. Abnormal MR findings were frequently observed both in the children with neurologic physical findings and in generally retarded children, while in the children with suspected autism, MR imaging did not demonstrate any abnormalities. Of 24 patients with epilepsy, abnormal MR findings were obtained in 17 patients (71%). The frequency of white matter lesion and atrophy was slightly higher in the patients with epilepsy. However, no significant correlations were found between MR findings and the presence of epilepsy. Also, no significant correlations were obtained between MR findings and the degree of developmental quotient (DQ). Severely injured cases did not necessarily show abnormal findings on MRI. (author)

  4. Comparison of dynamic changes in endogenous hormones and sugars between abnormal and normal Castanea mollissima

    Institute of Scientific and Technical Information of China (English)

    Tao Liu; Yunqian Hu; Xiaoxian Li

    2008-01-01

    To elucidate the possible functions of endogenous hormones in the flowering of chestnut, concentrations of four endogenous hormones [indole-3-acetic acid (IAA), gibberellic acid (GA), abscisic acid (ABA), zeatin riboside (ZR)) and the soluble sugars content were measured in both normal and developmentally abnormal Chinese chestnut (Castanea mollissima) during flowering and fruiting stages. Our results showed that the contents of ZR, ABA, and GA exhibited a significant different pattern in normal trees from that in abnormal trees, while the contents of IAA and soluble sugars showed a similar change pattern between them. These results suggest that quantitative changes in endogenous hormones may correspond to different flowering and fruiting mechanisms.

  5. Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly

    Energy Technology Data Exchange (ETDEWEB)

    Jacquemin, C. [King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia). Radiology Dept.; Mullaney, P. [Paediatric Ophthalmology Div., King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia); Bosley, T.M. [Neuro-Ophthalmology Div., King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia)

    2001-02-01

    We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing may interfere with the normal closure of the optic vesicle and normal growth of encephalic structures, possibly by disturbing developmental tissue interactions. These patients may exhibit a type of restricted primary sphenoid dysplasia, while the sphenoid dysplasia of neurofibromatosis type 1 may be secondary to orbital or ocular neurofibromas and other factors associated with that disease. (orig.)

  6. Absent cavum septum pellucidum: a review with emphasis on associated commissural abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Sundarakumar, Dinesh K.; Farley, Sarah A.; Nixon, Jason N. [Seattle Children' s Hospital, Department of Radiology, Seattle, WA (United States); Smith, Crysela M. [The University of Texas Health Science Center at San Antonio, Department of Radiology, San Antonio, TX (United States); Maravilla, Kenneth R.; Dighe, Manjiri K. [University of Washington, Department of Radiology, Seattle, WA (United States)

    2015-07-15

    The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark, and its absence often signifies additional underlying malformations. Frequently detected by prenatal sonography, absence of the CSP requires further imaging with pre- or postnatal MRI to characterize the accompanying abnormalities. This article reviews the developmental anatomy of the CSP and the pivotal role of commissurization in normal development. An understanding of the patterns of commissural abnormalities associated with absence of the CSP can lead to improved characterization of the underlying spectrum of pathology. (orig.)

  7. On Regularity of Abnormal Subriemannian Geodesics

    CERN Document Server

    Tan, Kanghai

    2012-01-01

    We prove the smoothness of abnormal minimizers of subriemannian manifolds of step 3 with a nilpotent basis. We prove that rank 2 Carnot groups of step 4 admit no strictly abnormal minimizers. For any subriemannian manifolds of step less than 7, we show all abnormal minimizers have no corner type singularities, which partly generalize the main result of Leonardi-Monti.

  8. Phenotypic Dichotomy Following Developmental Exposure to Perfluorooctanic Acid (PFOA) Exposure in CD-1 Mice: Low Doses Induce Elevated Serum, Leptin, Insulin, and Overweight in Mid-Life.

    Science.gov (United States)

    The synthetic surfactant, perfluorooctanoic acid (PFOA) is a proven developmental toxicant in mice, causing prenatal pregnancy loss, increased neonatal mortality, delayed eye opening, and abnormal mammary gland growth in animals exposed during fetal life. PFOA is found in the ser...

  9. Ventilation abnormalities in pulmonary embolus

    International Nuclear Information System (INIS)

    The ventilation scans of 11 patients with angiographically-proven PE were reviewed. All patients had one or more lung perfusion defects. The chest roentgenograph was abnormal in 11 of the patients. The ventilation studies were performed in the posterior positron prior to the perfusion lung scan using Xe-133. The ventilation study consists of washin, equilibrium, and washout images. In four patients with normal washin there was retention of the Xe-133 (delayed washout) at the site of the perfusion defect. All had roentgenographic abnormalities. Another pattern was observed at the sites of some perfusion defects in six patients. In these, there was decreased washin at the perfusion defect location. Two patients had both decreased washin and delayed washout. In only one case was the typical ventilation pattern of normal washin and normal washout. The method of retention is unclear, but may be due to decreased clearance of Xe-133 secondary to decreased blood flow in the area or deposition of some fat soluble component left at the site of embolization. The etiology of the reduced washin is unclear, but may be due to reduced surfactant production. This study suggests that more attention must be paid to the ventilation study, where there may be additional clues to the diagnosis of pulmonary embolus

  10. Chromosomal phenotypes and submicroscopic abnormalities

    Directory of Open Access Journals (Sweden)

    Devriendt Koen

    2004-01-01

    Full Text Available Abstract The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a unique resource towards the genetic dissection of complex phenotypes such as congenital heart defects, mental and growth retardation and abnormal behaviour. In addition, the study of phenotypic differences in individuals with the same microdeletion syndrome may also become a treasury for the identification of modifying factors for complex phenotypes. The molecular analysis of these chromosomal anomalies has led to a growing understanding of their mechanisms of origin. Novel tools to uncover additional submicroscopic chromosomal anomalies at a higher resolution and higher speed, as well as the novel tools at hand for deciphering the modifying factors and epistatic interactors, are 'on the doorstep' and will, besides their obvious diagnostic role, play a pivotal role in the genetic dissection of complex phenotypes.

  11. Exosomes in developmental signalling.

    Science.gov (United States)

    McGough, Ian John; Vincent, Jean-Paul

    2016-07-15

    In order to achieve coordinated growth and patterning during development, cells must communicate with one another, sending and receiving signals that regulate their activities. Such developmental signals can be soluble, bound to the extracellular matrix, or tethered to the surface of adjacent cells. Cells can also signal by releasing exosomes - extracellular vesicles containing bioactive molecules such as RNA, DNA and enzymes. Recent work has suggested that exosomes can also carry signalling proteins, including ligands of the Notch receptor and secreted proteins of the Hedgehog and WNT families. Here, we describe the various types of exosomes and their biogenesis. We then survey the experimental strategies used so far to interfere with exosome formation and critically assess the role of exosomes in developmental signalling. PMID:27436038

  12. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Directory of Open Access Journals (Sweden)

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

  13. Cross-Sectional and Longitudinal Abnormalities in Brain Structure in Children with Severe Mood Dysregulation or Bipolar Disorder

    Science.gov (United States)

    Adleman, Nancy E.; Fromm, Stephen J.; Razdan, Varun; Kayser, Reilly; Dickstein, Daniel P.; Brotman, Melissa A.; Pine, Daniel S.; Leibenluft, Ellen

    2012-01-01

    Background: There is debate as to whether chronic irritability (operationalized as severe mood dysregulation, SMD) is a developmental form of bipolar disorder (BD). Although structural brain abnormalities in BD have been demonstrated, no study compares neuroanatomy among SMD, BD, and healthy volunteers (HV) either cross-sectionally or over time.…

  14. Where Do Epigenetics and Developmental Origins Take the Field of Developmental Psychopathology?

    Science.gov (United States)

    Nigg, Joel T

    2016-04-01

    The time is ripe for upgrading or rethinking the assumed paradigms for how we study developmental psychopathology. The classic transactional models appear robust but need specification in terms of biological and psychosocial processes. That specification is increasingly tractable due to developments in genetics, epigenetics, the measurement of psychosocial processes, and theory and data on developmental origins of health and disease. This essay offers a high-level view of where the field has been and where it may be going in regard to nosology and conceptions of etiology. Remarks seek to consider rapidly evolving contexts not only for children, but also for the science itself due to progress in our field and in neighboring fields. Illustrations are provided as to how syndromal nosology can be enriched and advanced by careful integration with biologically relevant behavioral dimensions and application of quantitative methods. It is concluded that a revised, forward-looking, transactional model of abnormal child psychology will incorporate prenatal and postnatal developmental programming, epigenetic mechanisms and their associated genotype x environment interactions, and inflammatory processes as a potential common mediator influencing numerous health and mental health conditions.

  15. Abnormal Modulation of Corticospinal Excitability in Adults with Asperger’s Syndrome

    OpenAIRE

    Oberman, Lindsay; Eldaief, Mark; Fecteau, Shirley; Ifert-Miller, Fritz; Tormos, Jose Maria; Pascual-Leone, Alvaro

    2012-01-01

    Most candidate genes and genetic abnormalities linked to autism spectrum disorders (ASD) are thought to play a role in developmental and experience-dependent plasticity. As a possible index of plasticity, we assessed the modulation of motor corticospinal excitability in individuals with Asperger’s Syndrome (AS) using transcranial magnetic stimulation (TMS). We measured the modulatory effects of Theta Burst Stimulation (TBS) on motor evoked potentials (MEPs) induced by single-pulse TMS in indi...

  16. A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

    Science.gov (United States)

    Dallapiccola, B; Ferranti, G; Giannotti, A; Novelli, G; Pasquini, L; Porfirio, B

    1984-01-01

    Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism were, in our patient, abnormalities of the neutrophil nuclei, which consisted of multiple pedunculated or sessile projections, similar to those characteristically associated with trisomy 13 syndrome. Images PMID:6512839

  17. The timing of pediatric epilepsy syndromes: what are the developmental triggers?

    Science.gov (United States)

    Paolicchi, Juliann M

    2013-11-01

    Pediatric epilepsy is characterized by multiple epilepsy syndromes with specific developmental triggers. They initiate spontaneously at critical periods of development and can just as spontaneously remit. Accompanying neurocognitive disabilities are often specific to the epileptic syndrome. Infantile or epileptic spasms have a very specific developmental window in the first year of life. Preceding the epilepsy, developmental arrest is common. The neurologic pathways underlying the development of spasms have been identified through PET scans as developmental abnormalities of serotonergic and GABAergic neurotransmitter systems in the brain stem and basal ganglia. Childhood absence epilepsy (CAE) and benign centrotemporal epilepsy syndrome (BECTS) are both known genetic epilepsy syndromes; they have a discrete onset in childhood with remission by puberty. In CAE, disturbances of specific calcium channels at key developmental stages lead to aberrant disruption of thalamocortical synchrony. Similarly, a complex interplay between brain development, maturation, and susceptibility genes underlies the seizures and the neurocognitive deficits of BECTS.

  18. Abnormal Returns and Contrarian Strategies

    Directory of Open Access Journals (Sweden)

    Ivana Dall'Agnol

    2003-12-01

    Full Text Available We test the hypothesis that strategies which are long on portfolios of looser stocks and short on portfolios of winner stocks generate abnormal returns in Brazil. This type of evidence for the US stock market was interpreted by The Bondt and Thaler (1985 as reflecting systematic evaluation mistakes caused by investors overreaction to news related to the firm performance. We found evidence of contrarian strategies profitability for horizons from 3 months to 3 years in a sample of stock returns from BOVESPA and SOMA from 1986 to 2000. The strategies are more profitable for shorter horizons. Therefore, there was no trace of the momentum effect found by Jagadeesh and Titman (1993 for the same horizons with US data. There are remaing unexplained positive returns for contrarian strategies after accounting for risk, size, and liquidity. We also found that the strategy profitability is reduced after the Real Plan, which suggests that the Brazilian stock market became more efficient after inflation stabilization.

  19. Familial liability, obstetric complications and childhood development abnormalities in early onset schizophrenia: a case control study

    Directory of Open Access Journals (Sweden)

    Lucarelli Elisabetta

    2011-04-01

    Full Text Available Abstract Background Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS and very early-onset schizophrenia (VEOS. Methods We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test. Results The results show a statistical association between EOS/VEOS and schizophrenia and related disorders (P = 0.02 and personality disorders (P = 0.003 in relatives, and between EOS/VEOS and developmental abnormalities of early relational skills (P = 0.008 and learning (P = 0.04; there is not a statistically relevant difference between cases and controls (P > 0.05 for any obstetric complications (pre, peri and postpartum. Conclusions This study confirms the significant role of familial liability but not of obstetric complications in the pathogenesis of VEOS/EOS; the association between childhood developmental abnormalities and EOS/VEOS supports the neurodevelopmental model of disease.

  20. Dento-maxillofacial abnormalities caused by radiotherapy and chemotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Park, Cheol Woo; Hwang, Eui Hwang; Lee, Sang Rae [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kyunghee University, Seoul (Korea, Republic of)

    2000-12-15

    A case of dento-maxillofacial abnormality involving a 10-year-old male patient with a history of esthesioneuroblastoma is presented. This patient had been treated with 54 Gy {sup 60}Co-gamma-radiation to the nasal cavity for 6 weeks and 6 cycles of combination chemotherapy of Cyclophosphamide, Cisplatin, Adriamycin, VM-26 (Teniposide), and DTIC (Dacarbazine) when he was 16 months of age. Five years after cessation of cancer therapy, he was disease free and transferred for extensive dental care to Kyung Hee University Dental Hospital. A clinical and radiologic follow-up over last 4 years showed root stunting, premature closure of the root apices, microdontia, developmental arrest, small crowns, and partial anodontia. Maxillofacial morphology evaluated by cephalometric analysis showed deficiency of maxillary development.

  1. Role of developmental factors in hypothalamic function

    Directory of Open Access Journals (Sweden)

    Jakob eBiran

    2015-04-01

    Full Text Available The hypothalamus is a brain region which regulates homeostasis by mediating endocrine, autonomic and behavioral functions. It is comprised of several nuclei containing distinct neuronal populations producing neuropeptides and neurotransmitters that regulate fundamental body functions including temperature and metabolic rate, thirst and hunger, sexual behavior and reproduction, circadian rhythm, and emotional responses. The identity, number and connectivity of these neuronal populations are established during the organism’s development and are of crucial importance for normal hypothalamic function. Studies have suggested that developmental abnormalities in specific hypothalamic circuits can lead to obesity, sleep disorders, anxiety, depression and autism. At the molecular level, the development of the hypothalamus is regulated by transcription factors, secreted growth factors, neuropeptides and their receptors. Recent studies in zebrafish and mouse have demonstrated that some of these molecules maintain their expression in the adult brain and subsequently play a role in the physiological functions that are regulated by hypothalamic neurons. Here, we summarize the involvement of some of the key developmental factors in hypothalamic development and function by focusing on the mouse and zebrafish genetic model organisms.

  2. A novel type of developmental dentin defect.

    Science.gov (United States)

    Lukinmaa, P L; Waltimo, J; Hölttä, P; Risteli, L; Risteli, J; Alaluusua, S

    1996-01-01

    We describe a developmental dentin disorder distinct from dentin defects characterized thus far. The proband was a 9-year-old boy who was the only family member known to be affected in five generations. The dental defect was not associated with any general disease or developmental disorder. The teeth appeared normal with the exception of the pink hue seen in some primary teeth. Radiographs showed pathological resorption of primary teeth and abnormally shaped pulp chambers and denticles in permanent teeth. Root canals were wide in developing teeth, but appeared thin in erupted teeth. Histological examination of two primary molars revealed canal-like defects in dentin. In the crown, the canals appeared as clusters, which alternated with columns of normal tubular dentin, and in the virtually atubular root dentin they were haphazardly distributed. Scanning electron microscopic examination confirmed the distribution pattern of the canals. In transmission electron microscopy, the defects were found to contain symmetrically banded, segmental collagenous structures. The canal contents immunostained with antibodies to the N-terminal propeptide of type I procollagen, suggesting retention of the propeptide extension in type I collagen. Whereas type III collagen reactivity was barely detectable in the canal region, staining for type V collagen and the non-fibril-forming type VI collagen was strong. The findings imply that the pathogenesis of the defect could be related to a local failure of odontoblasts to produce normal dentin matrix.

  3. Role of developmental factors in hypothalamic function.

    Science.gov (United States)

    Biran, Jakob; Tahor, Maayan; Wircer, Einav; Levkowitz, Gil

    2015-01-01

    The hypothalamus is a brain region which regulates homeostasis by mediating endocrine, autonomic and behavioral functions. It is comprised of several nuclei containing distinct neuronal populations producing neuropeptides and neurotransmitters that regulate fundamental body functions including temperature and metabolic rate, thirst and hunger, sexual behavior and reproduction, circadian rhythm, and emotional responses. The identity, number and connectivity of these neuronal populations are established during the organism's development and are of crucial importance for normal hypothalamic function. Studies have suggested that developmental abnormalities in specific hypothalamic circuits can lead to obesity, sleep disorders, anxiety, depression and autism. At the molecular level, the development of the hypothalamus is regulated by transcription factors (TF), secreted growth factors, neuropeptides and their receptors. Recent studies in zebrafish and mouse have demonstrated that some of these molecules maintain their expression in the adult brain and subsequently play a role in the physiological functions that are regulated by hypothalamic neurons. Here, we summarize the involvement of some of the key developmental factors in hypothalamic development and function by focusing on the mouse and zebrafish genetic model organisms. PMID:25954163

  4. Lithium treatment and thyroid abnormalities

    Directory of Open Access Journals (Sweden)

    Bocchetta Alberto

    2006-09-01

    autoimmunity do not much differ from those observed in the general population; h hyperthyroidism and thyroid cancer are observed rarely during lithium treatment. Recommendations Thyroid function tests (TSH, free thyroid hormones, specific antibodies, and ultrasonic scanning should be performed prior to starting lithium prophylaxis. A similar panel should be repeated at one year. Thereafter, annual measurements of TSH may be sufficient to prevent overt hypothyroidism. In the presence of raised TSH or thyroid autoimmunity, shorter intervals between assessments are advisable (4–6 months. Measurement of antibodies and ultrasonic scanning may be repeated at 2-to-3-year intervals. The patient must be referred to the endocrinologist if TSH concentrations are repeatedly abnormal, and/or goitre or nodules are detected. Thyroid function abnormalities should not constitute an outright contraindication to lithium treatment, and lithium should not be stopped if a patient develops thyroid abnormalities. Decisions should be made taking into account the evidence that lithium treatment is perhaps the only efficient means of reducing the excessive mortality which is otherwise associated with affective disorders.

  5. Schizotypy From a Developmental Perspective

    OpenAIRE

    Debbané, Martin; Barrantes-Vidal, Neus

    2014-01-01

    The schizotypy construct focuses attention on the liability to develop schizophrenia-spectrum disorders, yet traditionally, the schizotypy models have put more emphasis on stress-vulnerability interactions rather than developmental dynamics of emerging risk for psychopathology. Indeed, developmental accounts of this emerging personality trait have rarely been explicitly formulated. In this position article, we wish to convey some of the basic developmental tenets of schizotypy, and how they c...

  6. Chronic Overeating without Obesity in Children with Developmental Disabilities: Description of a New Syndrome.

    Science.gov (United States)

    Ayoob, Keith-Thomas; And Others

    1994-01-01

    Thirteen children (ages 3.1 to 5.2 years) referred for developmental delay and excessive eating (without obesity) were evaluated. Commonalities included being in foster care, prenatal drug exposure, and abnormally withdrawn and/or aggressive behavior. (Author/DB)

  7. Electroencephalogram abnormalities in full term infants with history of severe asphyxia

    Directory of Open Access Journals (Sweden)

    Susanti Halim

    2016-11-01

    Full Text Available ingtool used to determine developmental and electrical problemsin the brain. A history of severe asphyxia is a risk factor for thesebrain problems in infants.Objective To evaluate the prevalence of abnormal EEGs infull term neonates and to assess for an association with severeasphyxia, hypoxic ischemic encephalopathy (HIE, and spontaneousdelivery.Methods This cross-sectional study was conducted at thePediatric Outpatient Department of Sanglah Hospital, Denpasar,from November 2013 to January 2014. Subjects were fullterminfants aged 1 month who were delivered and/or hospitalized atSanglah Hospital. All subjects underwent EEG. The EEGs wereinterpreted by a pediatric neurology consultant, twice, with aweek interval between readings. Clinical data were obtainedfrom medical records. Association between abnormal ECG andsevere asphyxia were analyzed by Chi-square and multivariablelogistic analyses.Results Of 55 subjects, 27 had a history of severe asphyxia and 28were vigorous babies. Forty percent (22/55 of subjects had abnormalEEG findings, 19/22 of these subjects having history of severeasphyxia, 15/22 had history of hypoxic-ischemic encephalopathy(HIE, and 20/22 were delievered vaginally. There were strongcorrelations between the prevalence of abnormal EEG and historyof severe asphyxia, HIE, and spontaneous delivery.Conclusion Prevalence of abnormal EEG among full-term neonatesreferred to neurology/growth development clinic is around40%, with most of them having a history of severe asphyxia. AbnormalEEG is significantly associated to severe asphyxia, HIE, andspontaneous delivery.

  8. Disruption of the somitic molecular clock causes abnormal vertebral segmentation.

    Science.gov (United States)

    Sparrow, Duncan B; Chapman, Gavin; Turnpenny, Peter D; Dunwoodie, Sally L

    2007-06-01

    Somites are the precursors of the vertebral column. They segment from the presomitic mesoderm (PSM) that is caudally located and newly generated from the tailbud. Somites form in synchrony on either side of the embryonic midline in a reiterative manner. A molecular clock that operates in the PSM drives this reiterative process. Genetic manipulation in mouse, chick and zebrafish has revealed that the molecular clock controls the activity of the Notch and WNT signaling pathways in the PSM. Disruption of the molecular clock impacts on somite formation causing abnormal vertebral segmentation (AVS). A number of dysmorphic syndromes manifest AVS defects. Interaction between developmental biologists and clinicians has lead to groundbreaking research in this area with the identification that spondylocostal dysostosis (SCD) is caused by mutation in Delta-like 3 (DLL3), Mesoderm posterior 2 (MESP2), and Lunatic fringe (LFNG); three genes that are components of the Notch signaling pathway. This review describes our current understanding of the somitic molecular clock and highlights how key findings in developmental biology can impact on clinical practice.

  9. ABNORMAL CARDIOVASCULAR REFLEXES IN PATIENTS WITH ACHALASIA

    Institute of Scientific and Technical Information of China (English)

    戈峰; 李泽坚; 柯美云

    1994-01-01

    Using 3 non-invasive tests,abnormalities of cardiovascular reflex function were found in 7 of 15 patients with achalasia.Abnormalities of heart rate responses to the Valsalva maneuver,deep breathing ,and standing were moted in patients with autonomic neuropathy defect.The findings are consistent with the hypothesis that an abnormality of vagal function may contribute to the pathogenesis of achalasia.

  10. Do Stock Dividends Generate Abnormal Returns?

    OpenAIRE

    Torgal, Kishan

    2009-01-01

    In this paper I have studied and understood the concepts of stock dividends, stock splits and the announcement effects and the effective day effects by using the standard event studies methodology which measures the significance of the abnormal returns. The previous studies have significant positive abnormal returns. In my results its shown that the as there is some significant abnormal returns which are connected with the announcement and effective day of the stock splits but it changes...

  11. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    OpenAIRE

    Daniela Mierla; Viorica Radoi; Veronica Stoian

    2012-01-01

    Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, ka...

  12. Developmental immunotoxicology of lead

    International Nuclear Information System (INIS)

    The heavy metal, lead, is a known developmental immunotoxicant that has been shown to produce immune alterations in humans as well as other species. Unlike many compounds that exert adverse immune effects, lead exposure at low to moderate levels does not produce widespread loss of immune cells. In contrast, changes resulting from lead exposure are subtle at the immune cell population level but, nevertheless, can be functionally dramatic. A hallmark of lead-induced immunotoxicity is a pronounced shift in the balance in T helper cell function toward T helper 2 responses at the expense of T helper 1 functions. This bias alters the nature and range of immune responses that can be produced thereby influencing host susceptibility to various diseases. Immunotoxic responses to lead appear to differ across life stages not only quantitatively with regard to dose response, but also qualitatively in terms of the spectrum of immune alterations. Experimental studies in several lab animal species suggest the latter stages of gestation are a period of considerable sensitivity for lead-induced immunotoxicity. This review describes the basic characteristics of lead-induced immunotoxicity emphasizing experimental animal results. It also provides a framework for the consideration of toxicant exposure effects across life stages. The existence of and probable basis for developmental windows of immune hyper-susceptibility are presented. Finally, the potential for lead to serve as a perinatal risk factor for childhood asthma as well as other diseases is considered

  13. [Renal abnormalities in ankylosing spondylitis].

    Science.gov (United States)

    Samia, Barbouch; Hazgui, Faiçal; Abdelghani, Khaoula Ben; Hamida, Fethi Ben; Goucha, Rym; Hedri, Hafedh; Taarit, Chokri Ben; Maiz, Hedi Ben; Kheder, Adel

    2012-07-01

    We will study the epidemiologic, clinical, biological, therapeutic, prognostic characteristics and predictive factors of development of nephropathy in ankylosing spondylitis patients. We retrospectively reviewed the medical record of 32 cases with renal involvement among 212 cases of ankylosing spondylitis followed in our service during the period spread out between 1978 and 2006. The renal involvement occurred in all patients a mean of 12 years after the clinical onset of the rheumatic disease. Thirty-two patients presented one or more signs of renal involvement: microscopic hematuria in 22 patients, proteinuria in 23 patients, nephrotic syndrome in 11 patients and decreased renal function in 24 patients (75%). Secondary renal amyloidosis (13 patients), which corresponds to a prevalence of 6,1% and tubulointerstitial nephropathy (7 patients) were the most common cause of renal involvement in ankylosing spondylitis followed by IgA nephropathy (4 patients). Seventeen patients evolved to the end stage renal disease after an average time of 29.8 ± 46 months. The average follow-up of the patients was 4,4 years. By comparing the 32 patients presenting a SPA and renal disease to 88 with SPA and without nephropathy, we detected the predictive factors of occurred of nephropathy: tobacco, intense inflammatory syndrome, sacroileite stage 3 or 4 and presence of column bamboo. The finding of 75% of the patients presented a renal failure at the time of the diagnosis of renal involvement suggests that evidence of renal abnormality involvement should be actively sought in this disease. PMID:22520483

  14. Sensorial abnormalities: Smell and taste

    Directory of Open Access Journals (Sweden)

    Palheta Neto, Francisco Xavier

    2011-07-01

    Full Text Available Introduction: Taste and smell abnormalities have proven to be an extremely more complex subject than previously regarded. Wide-ranging nosologic entities arise along with smell and taste alterations, and they can be congenital or acquired. Objective: Analyze the main features of smell and taste dysfunctions. Method: Automated databases were used to collect data, by searching keywords like 'alteration', 'smell', and 'taste'. A non-systematic search was also made in scientific printings and medical books. Literature Review: Smell and taste dysfunctions have a vast etiology, the most significant of which are obstructive nasal and sinusal disease, infections of the upper respiratory tract, cranioencephalic trauma, aging, exposure to toxics and some drugs, nasal or intracranial neoplasias, psychiatric and neurological pathologies, iatrogenic disease, idiopathic and congenital causes. A detailed anamnesis, a careful physical examination and supplementary evaluations are important for the diagnosis of these alterations. Conclusion: As a rule, smell and taste dysfunctions occur in a combined way. The early discovery of such dysfunctions can lead to a more efficient treatment, making the progress of diseases causing them retard and the symptoms less severe. In many cases, treating these alterations is not easy and there needs to be a multidisciplinary cooperation among the otorhinolaryngologist, endocrinologist, neurologist, psychiatrist, among others.

  15. Robin sequence associated with karyotypic mosaicism involving chromosome 22 abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Salinas, C.F.; Jastrzab, J.M.; Centu, E.S. [Medical Univ. of South Carolina, Charleston, SC (United States)

    1994-09-01

    Robin sequence is characterized by cleft palate, hypoplastic mandible, glossoptosis and respiratory difficulties. The Robin sequence may be observed as an isolated defect or as part of about 33 syndromes; however, to our knowledge, it has never been reported associated with chromosome 22 abnormalities. We examined a two-month-old black boy with a severe case of Robin sequence. Exam revealed a small child with hypoplastic mandible, glossoptosis, high palate and respiratory difficulty with continuous apnea episodes resulting in cyanotic lips and nails. In order to relieve the upper airway obstruction, his tongue was attached to the lower lip. Later a tracheostomy was performed. On follow-up exam, this patient was found to have developmental delay. Cytogenetic studies of both peripheral blood and fibroblast cells showed mosaicism involving chromosome 22 abnormalities which were designated as follows: 45,XY,-22/46,XY,-22,+r(22)/46,XY. Fluorescence in situ hybridization (FISH) studies confirmed the identity of the r(22) and showed the presence of the DiGeorge locus (D22575) but the absence of the D22539 locus which maps to 22q13.3. Reported cases of r(22) show no association with Robin sequence. However, r(22) has been associated with flat bridge of the nose, bulbous tip of the nose, epicanthus and high palate, all characteristics that we also observed in this case. These unusual cytogenetic findings may be causally related to the dysmorphology found in the patient we report.

  16. Gyrification brain abnormalities as predictors of outcome in anorexia nervosa.

    Science.gov (United States)

    Favaro, Angela; Tenconi, Elena; Degortes, Daniela; Manara, Renzo; Santonastaso, Paolo

    2015-12-01

    Gyrification brain abnormalities are considered a marker of early deviations from normal developmental trajectories and a putative predictor of poor outcome in psychiatric disorders. The aim of this study was to explore cortical folding morphology in patients with anorexia nervosa (AN). A MRI brain study was conducted on 38 patients with AN, 20 fully recovered patients, and 38 healthy women. Local gyrification was measured with procedures implemented in FreeSurfer. Vertex-wise comparisons were carried out to compare: (1) AN patients and healthy women; (2) patients with a full remission at a 3-year longitudinal follow-up assessment and patients who did not recover. AN patients exhibited significantly lower gyrification when compared with healthy controls. Patients with a poor 3-year outcome had significantly lower baseline gyrification when compared to both healthy women and patients with full recovery at follow-up, even after controlling for the effects of duration of illness and gray matter volume. No significant correlation has been found between gyrification, body mass index, amount of weight loss, onset age, and duration of illness. Brain gyrification significantly predicted outcome at follow-up even after controlling for the effects of duration of illness and other clinical prognostic factors. Although the role of starvation in determining our findings cannot be excluded, our study showed that brain gyrification might be a predictor of outcome in AN. Further studies are needed to understand if brain gyrification abnormalities are indices of early neurodevelopmental alterations, the consequence of starvation, or the interaction between both factors.

  17. Male-mediated developmental toxicity

    International Nuclear Information System (INIS)

    In recent years, the public has become more aware that exposure of males to certain agents can adversely affect their offspring and cause infertility and cancer. The hazards associated with exposure to ionising radiation have been recognised for nearly a century, but interest was aroused when a cluster of leukaemia cases was identified in young children living in Seascale, close to the nuclear processing plant at Sellafield in West Cumbria. There was a civil court case on behalf of two of the alleged victims of paternal irradiation at Seascale against British Nuclear Fuels. The case foundered on 'the balance of probabilities'. Nevertheless, there was support for paternal exposure from Japanese experimental X-ray studies in mice. The tumours were clearly heritable as shown by F2 transmission. Also, effects of a relatively non-toxic dose of radiation (1Gy) on cell proliferation transmitted to the embryo were manifested in the germ line of adult male mice even after two generations. In addition in humans, smoking fathers appear to give rise to tumours in the F1 generation. Using rodent models, developmental abnormalities/congenital malformations and tumours can be studied after exposure of males in an extended dominant lethal assay and congenital malformations can be determined which have similar manifestations in humans. The foetuses can also be investigated for skeletal malformations and litters can be allowed to develop to adulthood when tumours, if present, can be observed. Karyotype analysis can be performed on foetuses and adult offspring to determine if induced genetic damage can be transmitted. Using this study design, cyclophosphamide, 1,3-butadiene and urethane have been examined and each compound produced positive responses: cyclophosphamide in all endpoints examined, 1,3-butadiene in some and urethane only produced liver tumours in F1 male offspring. This suggests the endpoints are determined by independent genetic events. The results from heritable

  18. [Developmental Placement.] Collected Research References.

    Science.gov (United States)

    Bjorklund, Gail

    Drawing on information and references in the ERIC system, this literature review describes research related to a child's developmental placement. The issues examined include school entrance age; predictive validity, reliability, and features of Gesell School Readiness Assessment; retention; and the effectiveness of developmental placement. A…

  19. Developmental Math: What's the Answer?

    Science.gov (United States)

    Cafarella, Brian

    2016-01-01

    Developmental mathematics has been under the radar within higher education for some time. The reality is that there are many proven best practices in developmental math. Unfortunately, there are many obstacles that prevent student success. Moreover, the high rates of attrition and failure have led state legislators and college administrators to…

  20. Magnetic resonance imaging of neonatal brain. Assessment of normal and abnormal findings

    Energy Technology Data Exchange (ETDEWEB)

    Hasegawa, Koh; Kadono, Naoko; Kawase, Shohji; Kihara, Minako; Matsuo, Yasutaka; Yoshioka, Hiroshi; Kinugasa, Akihiko; Sawada, Tadashi (Kyoto Prefectural Univ. of Medicine (Japan))

    1994-11-01

    To establish the normal MRI appearance of the neonatal brain, magnetic resonance imaging (MRI) was performed on 124 neonates who admitted to our neonatal intensive care unit. Degree of myelination, ventricular size, width of the extracerebral space and focal lesion in the brain were evaluated to investigate the relationship between MRI findings of neonatal brain and the neurological prognosis. 85 neonates underwent MRI both at neonatal period and at the corrected age of one year. The change of abnormal MRI findings was evaluated. 19 neonates had abnormal neurological outcome on subsequent examinations. Delayed myelination, ventriculomegaly and large extracerebral space were seen in 13, 7 and 9 neonates respectively. 4, 3 and 5 neonates out of them showed abnormal neurological prognosis respectively. Of the 19 neonates with focal lesion in MRI, 2 had parenchymal hematoma in the brain, 2 had subdural hematoma, 5 had chronic hematoma following subependymal hemorrhage, 6 had cystic formation following subependymal hemorrhage, 2 had subcortical leukomalacia, one had periventricular leukomalacia and one had cyst in the parenchyma of cerebellum. 4 neonates of 19 with focal lesion in MRI showed abnormal development. Of the neonates who had abnormal neurological prognosis, 7 neonates showed no abnormal finding in MRI at neonatal period. 3 of them had mild mental retardation. MRI shows promise in the neonatal period. It facilitates recognition of abnormalities of neonatal brain and may be used to predict abnormal neurologic outcome. However physiological change in the brain of neonates, especially of premature neonates, should be considered on interpreting these findings. Awareness of developmental features should help to minimize misinterpretation of normal changes in the neonatal brain. (author).

  1. Complex radiation diagnosis of associated intracardiac abnormality

    International Nuclear Information System (INIS)

    It is shown that patients with congenital heart diseases having signs of cardiodismorphic complex in form of associated intercardiac abnormalities require special attention after surgical correction of the principal defect. It is connected with the fact that the associated abnormalities may become with time the basic factors influencing the progress and forecast of the disease

  2. An Abnormal Vibrational Mode of Torsion Pendulum

    Institute of Scientific and Technical Information of China (English)

    赵亮; 涂英; 顾邦明; 胡忠坤; 罗俊

    2003-01-01

    In the experiment for the determination of the gravitational constant G, we found an abnormal vibrational mode of the torsion pendulum. The abnormal mode disappeared as a magnetic damper was introduced to the torsion pendulum system. Our experimental results also show that the magnetic damper can be used to suppress the high frequency vibrational noises to torsion pendulums effectively.

  3. Abnormal Raman spectral phenomenon of silicon nanowires

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    The Raman spectra of two one-dimensional silicon nanowire samples with different excitation wavelengths were measured and an abnormal phenomenon was discovered that the Raman spectral features change with the wavelengths of excitation. Closer analysis of the crystalline structure of samples and the changes in Raman spectral features showed that the abnormal behavior is the result of resonance Raman scattering selection effect.

  4. Abnormal Event Detection Using Local Sparse Representation

    DEFF Research Database (Denmark)

    Ren, Huamin; Moeslund, Thomas B.

    2014-01-01

    measurement based on the difference between the normal space and local space. Specifically, we provide a reasonable normal bases through repeated K spectral clustering. Then for each testing feature we first use temporal neighbors to form a local space. An abnormal event is found if any abnormal feature...

  5. Nail abnormalities in patients with vitiligo*

    Science.gov (United States)

    Topal, Ilteris Oguz; Gungor, Sule; Kocaturk, Ozgur Emek; Duman, Hatice; Durmuscan, Mustafa

    2016-01-01

    Background Vitiligo is an acquired pigmentary skin disorder affecting 0.1-4% of the general population. The nails may be affected in patients with an autoimmune disease such as psoriasis, and in those with alopecia areata. It has been suggested that nail abnormalities should be apparent in vitiligo patients. Objective We sought to document the frequency and clinical presentation of nail abnormalities in vitiligo patients compared to healthy volunteers. We also examined the correlations between nail abnormalities and various clinical parameters. Methods This study included 100 vitiligo patients and 100 healthy subjects. Full medical histories were collected from the subjects, who underwent thorough general and nail examinations. All nail changes were noted. In the event of clinical suspicion of a fungal infection, additional mycological investigations were performed. Results Nail abnormalities were more prevalent in the patients (78%) than in the controls (55%) (p=0.001). Longitudinal ridging was the most common finding (42%), followed by (in descending order): leukonychia, an absent lunula, onycholysis, nail bed pallor, onychomycosis, splinter hemorrhage and nail plate thinning. The frequency of longitudinal ridging was significantly higher in patients than in controls (p<0.001). Conclusions Nail abnormalities were more prevalent in vitiligo patients than in controls. Systematic examination of the nails in such patients is useful because nail abnormalities are frequent. However, the causes of such abnormalities require further study. Longitudinal ridging and leukonychia were the most common abnormalities observed in this study. PMID:27579738

  6. [Abnormality in bone metabolism after burn].

    Science.gov (United States)

    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

  7. MOTOR DEVELOPMENTAL DELAY IN 7500 IRANIAN INFANTS:PREVALENCE AND RISK FACTORS

    Directory of Open Access Journals (Sweden)

    F. Sajedi MD

    2010-01-01

    Full Text Available ObjectiveThe purpose of this study was to determine the prevalence and the most common risk factors of motor developmental delay in infants.Materials & MethodsFollowing ethical approval, a study was carried out on the prevalence and risk factors of infants with motor developmental delay. The first stage was conducted through a cross-sectional study to determine the prevalence of motor developmental delay on 7500 infants and the second stage was an analytic case - control survey to identify the most common risk factors on 140 infants, aged one month to three years with motor developmental delay. Data was collected using a demographic questionnaire, the Parents Evaluation of Developmental Status questionnaire, the Denver Developmental Screening Test II, a neurological assessment form, and the movement and tone assessment form.ResultsThe prevalence of motor developmental delay in 7500 infants was 18.7/1000. The most common risk factors in infants with motor developmental delay were prematurity (25.6%, low birth weight (19.2%, neonatal seizures (7.5%, hyaline membrane disease (6.7%, systemic infections of mothers during pregnancy (5.9%, severe neonatal hyperbilirubinemia (5% in sequence. Motor developmental delay was significantly correlated with consanguinity of parents (p=0.001, prematurity (p=0.046, abnormal head circumference at birth (p=0.038, and low birth weight (p=0.026.ConclusionThe prevalence of motor developmental delay appears to be high and further studies should focus on different preventive strategies, controlling the most common risk factors and emphasizing on early detection and treatment of high risk infants.Keywords: Motor developmental delay, Prevalence, Risk factors, Prematurity

  8. Microcephaly; Correlation between cerebral CT index and developmental quotient

    Energy Technology Data Exchange (ETDEWEB)

    Azuma, Ototaka; Onozaki, Michihiko; Hidano, Fumio; Mizuguchi, Susumu; Kodama, Kimio (Akita Medical Center for Disabled Children, Kawajiri (Japan)); Komatsu, Eiko; Sakemi, Kikuo; Yamashita, Jun; Sawaishi, Ukio

    1991-09-01

    Thirty one children with microcephaly were referred to Akita Medical Center for Disabled Chilren. Of these children, 28 underwent cerebral computed tomography (CT). Cerebral CT indices were examined in relation to developmental quotient and underlying diseases. Mental retardation, cerebral palsy, epilepsy, and congenital malformations were associated with microcephaly. The most common abnormal CT finding was the ventricular-brain ratio (92.9%, 26/28). CT indices, including Evans' index, the caudal nuclei ratio, transverse width of the third ventricle, the ventricular/intracranial area ratio, the brain/intracranial area ratio, the basal cistern ratio, width of the cerebral longitudinal fissure, and integrated brain CT index, were all significantly correlated with developmental quotient. (N.K.).

  9. Developmental amnesia and its relationship to degree of hippocampal atrophy

    Science.gov (United States)

    Isaacs, E. B.; Vargha-Khadem, F.; Watkins, K. E.; Lucas, A.; Mishkin, M.; Gadian, D. G.

    2003-01-01

    Two groups of adolescents, one born preterm and one with a diagnosis of developmental amnesia, were compared with age-matched normal controls on measures of hippocampal volume and memory function. Relative to control values, the preterm group values showed a mean bilateral reduction in hippocampal volume of 8–9% (ranging to 23%), whereas the developmental amnesic group values showed a reduction of 40% (ranging from 27% to 56%). Despite equivalent IQ and immediate memory scores in the two study groups, there were marked differences between them on a wide variety of verbal and visual delayed memory tasks. Consistent with their diagnosis, the developmental amnesic group was impaired relative to both other groups on nearly all delayed memory measures. The preterm group, by contrast, was significantly impaired relative to the controls on only a few memory measures, i.e., route following and prospective memory. We suggest that early hippocampal pathology leads to the disabling memory impairments associated with developmental amnesia when the volume of this structure is reduced below normal by ≈20–30% on each side. Whether this is a sufficient condition for the disorder or whether abnormality in other brain regions is also necessary remains to be determined. PMID:14555756

  10. Chromosomal abnormalities in patients with sperm disorders

    Directory of Open Access Journals (Sweden)

    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  11. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

    Science.gov (United States)

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

    2016-02-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

  12. Ethical Considerations In Dental Care For People With Developmental Disabilities

    Directory of Open Access Journals (Sweden)

    Biris Carmen

    2016-06-01

    Full Text Available Developmental disabilities exist in children and adolescents, enabling them to live an independent and self-governing life, requiring special health related services. We are intended to inform dental professionals in planning and implementing a dental treatment for people with developmental disabilities. Cerebral palsy is defined as being a group of motor abnormalities and functional impairments that affect muscle coordination, and characterized by uncontrolled body movements, intellectual disabilities, balance-related abnormalities or seizure disorders. These patients can be successfully treated in normal dental practices, but because they have problems with movements, care must be tailored accordingly. Down syndrome, a very common genetic disorder, is usually associated with different physical and medical problems, intellectual disabilities, and a developmental delay. These patients can be treated with success in dental offices, this way making a difference in the medical care for people with special needs. Autism is a neurodevelopmental disorder characterized by impaired social interaction, verbal and non-verbal communication and by restricted and repetitive behavior. Self-injurious behavior, obsessive routines and unpredictable body movements can influence dental care. Because of the coexisting conditions (epilepsy or intellectual disability, one can find this people among the most challenging to treat. There is a need of greater awareness, focus and education in the field of the unique and complex oral health care that people with disabilities need. Making a difference their oral health positively influences an already challenged existence. According to the ethical principles, patients with developmental disabilities should be treated equitably depending on their necessities.

  13. Developmental diseases and the hypothetical Master Development Program.

    Science.gov (United States)

    Parris, George E

    2010-03-01

    Small deletions and duplications frequently occur in the pericentromeric region of chromosomes and many of these are associated with developmental abnormalities. These developmental syndromes are conventionally attributed to abnormal expression of protein-coding genes in the affected region. A hypothesis has recently been published concerning a Master Development Program based on noncoding transcripts from these regions (Parris GE. A hypothetical Master Development Program for multi-cellular organisms: Ontogeny and phylogeny. Biosci Hypotheses 2009;2:3-12.). This paper summarizes and expands the recently published hypothesis to include it application to developmental diseases. The author proposes that development of multi-cellular organisms is guided by a Master Development Program (MDP) located primarily in the pericentromeric heterochromatin. The MDP is believed to consist of a series of Generation-Specific Control Keys (GSCK) transcribed in sequence by Ikaros family transcription factors unless the GSCKs are suppressed by Sall1-family or Dnmt3b-family proteins. The MDP is proposed to increment with each cell cycle to the next GSCK resulting in development of the clone. A clone may be programmed to split into two clones as necessary through a two-cycle mitosis processes. The transcripts of the GSCKs presumably yield noncoding nuclear messenger RNAs (nmRNAs, 8-30 nt units) that act directly (e.g., as primers for RNA polymerase II) and indirectly to regulate HOX and other high-level transcription factor and developmental genes. As envisioned, the MDP would evolve by terminal addition of new GSCKs. The new GSCKs are produced by evolutionary consolidation of retro-transcripts into pyknons that collect and evolve at the end of the pericentromeric heterochromatin and are eventually incorporated into the MDP. The retro-transcripts are though to be produced during episodic retrovirus epidemics and account for punctuated equilibrium in species evolution. PMID:19833446

  14. The biological basis of language: insight from developmental grammatical impairments.

    Science.gov (United States)

    van der Lely, Heather K J; Pinker, Steven

    2014-11-01

    Specific language impairment (SLI), a genetic developmental disorder, offers insights into the neurobiological and computational organization of language. A subtype, Grammatical-SLI (G-SLI), involves greater impairments in 'extended' grammatical representations, which are nonlocal, hierarchical, abstract, and composed, than in 'basic' ones, which are local, linear, semantic, and holistic. This distinction is seen in syntax, morphology, and phonology, and may be tied to abnormalities in the left hemisphere and basal ganglia, consistent with new models of the neurobiology of language which distinguish dorsal and ventral processing streams. Delineating neurolinguistic phenotypes promises a better understanding of the effects of genes on the brain circuitry underlying normal and impaired language abilities. PMID:25172525

  15. Developmental origins of brain disorders: roles for dopamine

    Directory of Open Access Journals (Sweden)

    Kelli M Money

    2013-12-01

    Full Text Available Neurotransmitters and neuromodulators, such as dopamine, participate in a wide range of behavioral and cognitive functions in the adult brain, including movement, cognition, and reward. Dopamine-mediated signaling plays a fundamental neurodevelopmental role in forebrain differentiation and circuit formation. These developmental effects, such as modulation of neuronal migration and dendritic growth, occur before synaptogenesis and demonstrate novel roles for dopaminergic signaling beyond neuromodulation at the synapse. Pharmacologic and genetic disruptions demonstrate that these effects are brain region- and receptor subtype-specific. For example, the striatum and frontal cortex exhibit abnormal neuronal structure and function following prenatal disruption of dopamine receptor signaling. Alterations in these processes are implicated in the pathophysiology of neuropsychiatric disorders, and emerging studies of neurodevelopmental disruptions may shed light on the pathophysiology of abnormal neuronal circuitry in neuropsychiatric disorders.

  16. Attentional networks in developmental dyscalculia

    Directory of Open Access Journals (Sweden)

    Henik Avishai

    2010-01-01

    Full Text Available Abstract Background Very little is known about attention deficits in developmental dyscalculia, hence, this study was designed to provide the missing information. We examined attention abilities of participants suffering from developmental dyscalculia using the attention networks test - interactions. This test was designed to examine three different attention networks--executive function, orienting and alerting--and the interactions between them. Methods Fourteen university students that were diagnosed as suffering from developmental dyscalculia--intelligence and reading abilities in the normal range and no indication of attention-deficit hyperactivity disorder--and 14 matched controls were tested using the attention networks test - interactions. All participants were given preliminary tests to measure mathematical abilities, reading, attention and intelligence. Results The results revealed deficits in the alerting network--a larger alerting effect--and in the executive function networks--a larger congruity effect in developmental dyscalculia participants. The interaction between the alerting and executive function networks was also modulated by group. In addition, developmental dyscalculia participants were slower to respond in the non-cued conditions. Conclusions These results imply specific attentional deficits in pure developmental dyscalculia. Namely, those with developmental dyscalculia seem to be deficient in the executive function and alertness networks. They suffer from difficulty in recruiting attention, in addition to the deficits in numerical processing.

  17. Developmental psychopathology: concepts and challenges.

    Science.gov (United States)

    Rutter, M; Sroufe, L A

    2000-01-01

    The defining features of developmental psychopathology concepts include attention to the understanding of causal processes, appreciation of the role of developmental mechanisms, and consideration of continuities and discontinuities between normality and psychopathology. Accomplishments with respect to these issues are reviewed in relation to attachment disorders, antisocial behavior, autism, depressive disorder, schizophrenia, and intellectual development. Major research challenges remain in relation to measurement issues, comorbidity, gender differences, cognitive processing, nature-nurture interplay, heterotypic continuity, continuities between normal variations and disorders, developmental programming, and therapeutic mechanisms in effective treatments. PMID:11014739

  18. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  19. Developmental dyslexia and vision

    Directory of Open Access Journals (Sweden)

    Quercia P

    2013-05-01

    Full Text Available Patrick Quercia,1 Léonard Feiss,2 Carine Michel31Department of Ophthalmology, University Hospital, Dijon, France; 2Office of Ophthalmology, Beaune, France; 3University of Burgundy, Dijon, INSERM U1093, Cognition, Action et Plasticité Sensorimotrice, Dijon, FranceAbstract: Developmental dyslexia affects almost 10% of school-aged children and represents a significant public health problem. Its etiology is unknown. The consistent presence of phonological difficulties combined with an inability to manipulate language sounds and the grapheme–phoneme conversion is widely acknowledged. Numerous scientific studies have also documented the presence of eye movement anomalies and deficits of perception of low contrast, low spatial frequency, and high frequency temporal visual information in dyslexics. Anomalies of visual attention with short visual attention spans have also been demonstrated in a large number of cases. Spatial orientation is also affected in dyslexics who manifest a preference for spatial attention to the right. This asymmetry may be so pronounced that it leads to a veritable neglect of space on the left side. The evaluation of treatments proposed to dyslexics whether speech or oriented towards the visual anomalies remains fragmentary. The advent of new explanatory theories, notably cerebellar, magnocellular, or proprioceptive, is an incentive for ophthalmologists to enter the world of multimodal cognition given the importance of the eye's visual input.Keywords: reading, ocular motility, dyslexia, neglect, spatial representation

  20. Phenotyping structural abnormalities in mouse embryos using high-resolution episcopic microscopy

    Directory of Open Access Journals (Sweden)

    Wolfgang J. Weninger

    2014-10-01

    Full Text Available The arrival of simple and reliable methods for 3D imaging of mouse embryos has opened the possibility of analysing normal and abnormal development in a far more systematic and comprehensive manner than has hitherto been possible. This will not only help to extend our understanding of normal tissue and organ development but, by applying the same approach to embryos from genetically modified mouse lines, such imaging studies could also transform our knowledge of gene function in embryogenesis and the aetiology of developmental disorders. The International Mouse Phenotyping Consortium is coordinating efforts to phenotype single gene knockouts covering the entire mouse genome, including characterising developmental defects for those knockout lines that prove to be embryonic lethal. Here, we present a pilot study of 34 such lines, utilising high-resolution episcopic microscopy (HREM for comprehensive 2D and 3D imaging of homozygous null embryos and their wild-type littermates. We present a simple phenotyping protocol that has been developed to take advantage of the high-resolution images obtained by HREM and that can be used to score tissue and organ abnormalities in a reliable manner. Using this approach with embryos at embryonic day 14.5, we show the wide range of structural abnormalities that are likely to be detected in such studies and the variability in phenotypes between sibling homozygous null embryos.

  1. Developmental Milestones of Early Literacy

    Science.gov (United States)

    ... Prenatal Baby Bathing & Skin Care Breastfeeding Crying & Colic Diapers & Clothing Feeding & Nutrition Preemie Sleep Teething & Tooth Care Toddler Preschool Gradeschool Teen Young Adult Healthy Children > Ages & Stages > Baby > Developmental Milestones of ...

  2. Neurobehavioural effects of developmental toxicity

    DEFF Research Database (Denmark)

    Grandjean, Philippe; Landrigan, Philip J

    2014-01-01

    the known causes for this rise in prevalence. In 2006, we did a systematic review and identified five industrial chemicals as developmental neurotoxicants: lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene. Since 2006, epidemiological studies have documented six additional developmental...... neurotoxicants-manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. We postulate that even more neurotoxicants remain undiscovered. To control the pandemic of developmental neurotoxicity, we propose a global prevention strategy. Untested...... chemicals should not be presumed to be safe to brain development, and chemicals in existing use and all new chemicals must therefore be tested for developmental neurotoxicity. To coordinate these efforts and to accelerate translation of science into prevention, we propose the urgent formation of a new...

  3. Amphibian abnormalities on National Wildlife Refuges

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This fact sheet outlines a study done to 1) find the percentage of abnormal frogs and toads on the nation’s National Wildlife Refuges and 2) determine how the...

  4. Low-set ears and pinna abnormalities

    Science.gov (United States)

    ... because they do not affect hearing. However, sometimes cosmetic surgery is recommended. Skin tags may be tied off, ... 5 years old. More severe abnormalities may require surgery for cosmetic reasons as well as for function. Surgery to ...

  5. The glycometabolism abnormality among schizophrenia patients

    Institute of Scientific and Technical Information of China (English)

    吴小立

    2013-01-01

    Objective To explore the potential glycometabolism abnormality and the related factors of schizophrenia patients in China. Methods This cross-sectional study included 44 healthy controls(group 1) and 178 inpatient

  6. Echocardiographic abnormalities in type IV mucopolysaccharidosis.

    OpenAIRE

    John, R. M.; Hunter, D; Swanton, R. H.

    1990-01-01

    Cardiac involvement is well recognised in most forms of the mucopolysaccharidoses but there is poor documentation of abnormalities specific to Morquio's syndrome (type IV mucopolysaccharidosis). Ten patients with the classic form or type A Morquio's syndrome with a median age of 12.5 years underwent echocardiographic assessment. Abnormalities were detected in six (60%) cases with mitral valve involvement in five patients and aortic valve disease in four. One patient had severe mitral leaflet ...

  7. Prevalence of asymptomatic urinary abnormalities among adolescents

    Directory of Open Access Journals (Sweden)

    Mohamed Fouad

    2016-01-01

    Full Text Available To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1% individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8% at the second screening, (P <0.001. Hematuria was the most common urinary abnormalities detected in 245 (9.8% adolescents who had persistent urine abnormalities; 228 (9.1% individuals had non glomerular hematuria. The hematuria was isolated in 150 (6% individuals, combined with leukocyturia in 83 (3.3% individuals, and combined with proteinuria in 12 (0.5% individuals. Leukocyturia was detected in 150 (6% of all studied adolescents; it was isolated in 39 (1.6% individuals and combined with proteinuria in 28 (1.1% of them. Asymp- tomatic bacteriuria was detected in 23 (0.9% of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6% of all the studied adolescents; 45 (1.8% indivi- duals had <0.5 g/day and twenty (0.8% individuals had 0.5-3 g/day. Asymptomatic urinary abnormalities were more common in males than females and adolescents from rural than urban areas (P <0.01 and (P <0.001, respectively. The present study found a high prevalence of asymptomatic urinary abnormalities among adolescents in our population.

  8. Abnormal uterine bleeding: a clinicohistopathological analysis

    OpenAIRE

    Anupamasuresh Y; Suresh YV; Prachi Jain*,

    2014-01-01

    Background: Abnormal uterine bleeding (AUB) is one of the most common problem for the patients and the gynecologists. It adversely effects on the quality of life and psychology of women. It is of special concern in developing country as it adds to the causes of anemia. Management of Abnormal Uterine Bleeding (AUB) is not complete without tissue diagnosis especially in perimenopausal and post-menopausal women. Histological characteristics of endometrial biopsy material as assessed by light mic...

  9. Medical Costs of Abnormal Serum Sodium Levels

    OpenAIRE

    Shea, Alisa M.; Hammill, Bradley G.; Curtis, Lesley H.; Szczech, Lynda A.; Schulman, Kevin A

    2008-01-01

    An abnormal serum sodium level is the most common electrolyte disorder in the United States and can have a significant impact on morbidity and mortality. The direct medical costs of abnormal serum sodium levels are not well understood. The impact of hyponatremia and hypernatremia on 6-mo and 1-yr direct medical costs was examined by analyzing data from the Integrated HealthCare Information Services National Managed Care Benchmark Database. During the period analyzed, there were 1274 patients ...

  10. Heterotaxy syndromes and abnormal bowel rotation

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [Stanford University, Lucile Packard Children' s Hospital, Department of Radiology, Stanford, CA (United States); Koppolu, Raji; Sylvester, Karl [Lucile Packard Children' s Hospital at Stanford, Department of Surgery, Stanford, CA (United States); Murphy, Daniel [Lucile Packard Children' s Hospital at Stanford, Department of Cardiology, Stanford, CA (United States)

    2014-05-15

    Bowel rotation abnormalities in heterotaxy are common. As more children survive cardiac surgery, the management of gastrointestinal abnormalities has become controversial. To evaluate imaging of malrotation in heterotaxy with surgical correlation and provide an algorithm for management. Imaging reports of heterotaxic children with upper gastrointestinal (UGI) and/or small bowel follow-through (SBFT) were reviewed. Subsequently, fluoroscopic images were re-reviewed in conjunction with CT/MR studies. The original reports and re-reviewed images were compared and correlated with surgical findings. Nineteen of 34 children with heterotaxy underwent UGI, 13/19 also had SBFT. In 15/19 reports, bowel rotation was called abnormal: 11 malrotation, 4 non-rotation, no cases of volvulus. Re-review, including CT (10/19) and MR (2/19), designated 17/19 (90%) as abnormal, 10 malrotation (abnormal bowel arrangement, narrow or uncertain length of mesentery) and 7 non-rotation (small bowel and colon on opposite sides plus low cecum with probable broad mesentery). The most useful CT/MR findings were absence of retroperitoneal duodenum in most abnormal cases and location of bowel, especially cecum. Abnormal orientation of mesenteric vessels suggested malrotation but was not universal. Nine children had elective bowel surgery; non-rotation was found in 4/9 and malrotation was found in 5/9, with discrepancies (non-rotation at surgery, malrotation on imaging) with 4 original interpretations and 1 re-review. We recommend routine, early UGI and SBFT studies once other, urgent clinical concerns have been stabilized, with elective laparoscopic surgery in abnormal or equivocal cases. Cross-sectional imaging, usually obtained for other reasons, can contribute diagnostically. Attempting to assess mesenteric width is important in differentiating non-rotation from malrotation and more accurately identifies appropriate surgical candidates. (orig.)

  11. Abnormalities of gut vessels in Turner's syndrome.

    OpenAIRE

    Reinhart, W H; Mordasini, C.; Stäubli, M.; Scheurer, U.

    1983-01-01

    We describe a 57-year-old patient with Turner's syndrome, iron deficiency anaemia and intestinal vascular abnormalities. Colonoscopy revealed 2 widely dilated, tortuous veins in the terminal ileum and several smaller ectatic veins and haemangioma-like malformations throughout the colon. Laparotomy for herniotomy showed only minimal vascular abnormalities of the serosal surface. Patients with Turner's syndrome and anaemia should be checked for these lesions by endoscopy, and conversely, in pat...

  12. Carbamazepine for acute psychosis with eeg abnormalities

    OpenAIRE

    Ivković Maja; Damjanović Aleksandar; Marinković Dragan; Paunović Vladimir R.

    2004-01-01

    Aim. To investigate the efficacy of carbamazepine as adjuvant drug therapy in acute paranoid psychosis with associated EEG abnormalities, compared to sole antipsychotic treatment. Methods. Eleven medication-naive patients diagnosed with acute paranoid psychosis with associated EEG abnormalities were divided into two treatment groups: sole fluphenazine group, with flexible dosing of 5-10 mg/day (n=6), and carbamazepine group (n=5) with the addition of carbamazepine (600 mg/day) to fluphenazine...

  13. Abnormal Chromosome Segregation May Trigger Tumors

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    @@ Cancer is a primary threat to human health as it kills millions of people each year.Scientists have shown that 75% of human cancers have an abnormal number of chromosomes in cells,and the proportion of the cells with an abnormal chromosome number is tightly and positively related to malignance progression and metastasis of cancers. But the pathological mechanism behind the anomaly still remains unknown.

  14. Evidence of portuguese stock market abnormal returns

    OpenAIRE

    Duarte, Elisabete Mendes; Oliveira, Lisete Trindade

    2011-01-01

    According to the stock market efficiency theory, it is not possible to consistently beat the market. However, technical analysis is more and more spread as an efficient way to achieve abnormal returns. In fact there is evidence that momentum investing strategies provide abnormal returns in different stock markets, Jegadeesh, N. and Titman, S. (1993), George, T. and Hwang, C. (2004) and Du, D. (2009). In this work we study if like other markets, the Portuguese stock market also allows to obtai...

  15. Attentional networks in developmental dyscalculia

    OpenAIRE

    Henik Avishai; Askenazi Sarit

    2010-01-01

    Abstract Background Very little is known about attention deficits in developmental dyscalculia, hence, this study was designed to provide the missing information. We examined attention abilities of participants suffering from developmental dyscalculia using the attention networks test - interactions. This test was designed to examine three different attention networks--executive function, orienting and alerting--and the interactions between them. Methods Fourteen university students that were...

  16. 29 CFR 1952.351 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.351 Section 1952.351 Labor... (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Arizona § 1952.351 Developmental schedule. The Arizona State plan is developmental. The following is the developmental schedule as provided...

  17. 29 CFR 1952.161 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.161 Section 1952.161 Labor... (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Iowa § 1952.161 Developmental schedule. The Iowa State plan is developmental. The following is the developmental schedule as amended...

  18. 29 CFR 1952.101 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.101 Section 1952.101 Labor... (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Oregon § 1952.101 Developmental schedule. The Oregon plan is developmental. The schedule of developmental steps as described in the plan...

  19. 29 CFR 1952.111 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.111 Section 1952.111 Labor... (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Utah § 1952.111 Developmental schedule. The Utah plan is developmental. The following is the schedule of developmental steps provided by...

  20. Saccadic Eye Movement Abnormalities in Children with Epilepsy.

    Science.gov (United States)

    Lunn, Judith; Donovan, Tim; Litchfield, Damien; Lewis, Charlie; Davies, Robert; Crawford, Trevor

    2016-01-01

    Childhood onset epilepsy is associated with disrupted developmental integration of sensorimotor and cognitive functions that contribute to persistent neurobehavioural comorbidities. The role of epilepsy and its treatment on the development of functional integration of motor and cognitive domains is unclear. Oculomotor tasks can probe neurophysiological and neurocognitive mechanisms vulnerable to developmental disruptions by epilepsy-related factors. The study involved 26 patients and 48 typically developing children aged 8-18 years old who performed a prosaccade and an antisaccade task. Analyses compared medicated chronic epilepsy patients and unmedicated controlled epilepsy patients to healthy control children on saccade latency, accuracy and dynamics, errors and correction rate, and express saccades. Patients with medicated chronic epilepsy had impaired and more variable processing speed, reduced accuracy, increased peak velocity and a greater number of inhibitory errors, younger unmedicated patients also showed deficits in error monitoring. Deficits were related to reported behavioural problems in patients. Epilepsy factors were significant predictors of oculomotor functions. An earlier age at onset predicted reduced latency of prosaccades and increased express saccades, and the typical relationship between express saccades and inhibitory errors was absent in chronic patients, indicating a persistent reduction in tonic cortical inhibition and aberrant cortical connectivity. In contrast, onset in later childhood predicted altered antisaccade dynamics indicating disrupted neurotransmission in frontoparietal and oculomotor networks with greater demand on inhibitory control. The observed saccadic abnormalities are consistent with a dysmaturation of subcortical-cortical functional connectivity and aberrant neurotransmission. Eye movements could be used to monitor the impact of epilepsy on neurocognitive development and help assess the risk for poor neurobehavioural

  1. Developmental neurotoxicity of pyrethroid insecticides in zebrafish embryos.

    Science.gov (United States)

    DeMicco, Amy; Cooper, Keith R; Richardson, Jason R; White, Lori A

    2010-01-01

    Pyrethroid insecticides are one of the most commonly used residential and agricultural insecticides. Based on the increased use of pyrethroids and recent studies showing that pregnant women and children are exposed to pyrethroids, there are concerns over the potential for developmental neurotoxicity. However, there have been relatively few studies on the developmental neurotoxicity of pyrethroids. In this study, we sought to investigate the developmental toxicity of six common pyrethroids, three type I compounds (permethrin, resmethrin, and bifenthrin) and three type II compounds (deltamethrin, cypermethrin, and lambda-cyhalothrin), and to determine whether zebrafish embryos may be an appropriate model for studying the developmental neurotoxicity of pyrethroids. Exposure of zebrafish embryos to pyrethroids caused a dose-dependent increase in mortality and pericardial edema, with type II compounds being the most potent. At doses approaching the LC(50), permethrin and deltamethrin caused craniofacial abnormalities. These findings are consistent with mammalian studies demonstrating that pyrethroids are mildly teratogenic at very high doses. However, at lower doses, body axis curvature and spasms were observed, which were reminiscent of the classic syndromes observed with pyrethroid toxicity. Treatment with diazepam ameliorated the spasms, while treatment with the sodium channel antagonist MS-222 ameliorated both spasms and body curvature, suggesting that pyrethroid-induced neurotoxicity is similar in zebrafish and mammals. Taken in concert, these data suggest that zebrafish may be an appropriate alternative model to study the mechanism(s) responsible for the developmental neurotoxicity of pyrethroid insecticides and aid in identification of compounds that should be further tested in mammalian systems.

  2. Gyrification brain abnormalities as predictors of outcome in anorexia nervosa.

    Science.gov (United States)

    Favaro, Angela; Tenconi, Elena; Degortes, Daniela; Manara, Renzo; Santonastaso, Paolo

    2015-12-01

    Gyrification brain abnormalities are considered a marker of early deviations from normal developmental trajectories and a putative predictor of poor outcome in psychiatric disorders. The aim of this study was to explore cortical folding morphology in patients with anorexia nervosa (AN). A MRI brain study was conducted on 38 patients with AN, 20 fully recovered patients, and 38 healthy women. Local gyrification was measured with procedures implemented in FreeSurfer. Vertex-wise comparisons were carried out to compare: (1) AN patients and healthy women; (2) patients with a full remission at a 3-year longitudinal follow-up assessment and patients who did not recover. AN patients exhibited significantly lower gyrification when compared with healthy controls. Patients with a poor 3-year outcome had significantly lower baseline gyrification when compared to both healthy women and patients with full recovery at follow-up, even after controlling for the effects of duration of illness and gray matter volume. No significant correlation has been found between gyrification, body mass index, amount of weight loss, onset age, and duration of illness. Brain gyrification significantly predicted outcome at follow-up even after controlling for the effects of duration of illness and other clinical prognostic factors. Although the role of starvation in determining our findings cannot be excluded, our study showed that brain gyrification might be a predictor of outcome in AN. Further studies are needed to understand if brain gyrification abnormalities are indices of early neurodevelopmental alterations, the consequence of starvation, or the interaction between both factors. PMID:26374960

  3. Fetal calcifications are associated with chromosomal abnormalities.

    Directory of Open Access Journals (Sweden)

    Ellika Sahlin

    Full Text Available The biological importance of calcifications occasionally noted in fetal tissues (mainly liver at autopsy or ultrasound is largely unexplored. Previous reports hint at an association to infection, circulatory compromise, malformations or chromosomal abnormalities. To identify factors associated with calcifications, we have performed a case-control study on the largest cohort of fetuses with calcifications described thus far.One-hundred and fifty-one fetuses with calcifications and 302 matched controls were selected from the archives of the Department of Pathology, Karolinska University Hospital. Chromosome analysis by karyotyping or quantitative fluorescence-polymerase chain reaction was performed. Autopsy and placenta reports were scrutinized for presence of malformations and signs of infection.Calcifications were mainly located in the liver, but also in heart, bowel, and other tissues. Fetuses with calcifications showed a significantly higher proportion of chromosomal abnormalities than controls; 50% vs. 20% (p<0.001. The most frequent aberrations among cases included trisomy 21 (33%, trisomy 18 (22%, and monosomy X (18%. A similar distribution was seen among controls. When comparing cases and controls with chromosomal abnormalities, the cases had a significantly higher prevalence of malformations (95% vs. 77%, p=0.004. Analyzed the other way around, cases with malformations had a significantly higher proportion of chromosomal abnormalities compared with controls, (66% vs. 31%, p<0.001.The presence of fetal calcifications is associated with high risk of chromosomal abnormality in combination with malformations. Identification of a calcification together with a malformation at autopsy more than doubles the probability of detecting a chromosomal abnormality, compared with identification of a malformation only. We propose that identification of a fetal tissue calcification at autopsy, and potentially also at ultrasound examination, should infer

  4. Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in total hip replacement

    OpenAIRE

    Vasileios Sakellariou; Michael Christodoulou; Gregory Sasalos; George Babis

    2014-01-01

    Developmental dysplasia of the hip (DDH) or congenital hip dysplasia (CDH) is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4...

  5. 试论肾虚痹证(类风湿性关节炎)发育生物学基础%Background of Developmental Biology on Bi Syndrome of the Deficiency of Kidney (Rheumatoid Arthritis)

    Institute of Scientific and Technical Information of China (English)

    张浩; 吕爱平

    2003-01-01

    According to traditional Chinese medicine, the kidney promotes the growth and develepment of the body, the deficiency of kidney is a important pathogenesis of Bi syndome (Rheumatoid Arthritis, RA). Modem medicial research shows that RA has abnormality in developmental biology. The paper detects the background of developmental biology on Bi syndrome of the deficiency of kidney.

  6. Mutation of the fucose-specific β1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine

    OpenAIRE

    Sally L Dunwoodie

    2009-01-01

    Mutation of the fucose-specific ?1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine correspondence: Tel: 612 9295 8613; fax: 612 9295 8668. (Dunwoodie, Sally L.) (Dunwoodie, Sally L.) Developmental Biology Division, Victor Chang Cardiac Research Institute, 405 Liverpool Street Darlinghurst. University of New South Wales 2010 - Sydney--> - AUSTRALIA (Dunwoodie, Sally L.) ...

  7. Cranioplasty for isolated trigonocephaly with developmental disorder

    Energy Technology Data Exchange (ETDEWEB)

    Shimabukuro, Satoshi; Shimoji, Takeyoshi [Okinawa Prefectural Naha Hospital (Japan); Sugama, Seiichi

    2001-11-01

    We reported 50 cases of mild to moderate trigonocephaly (most isolated type) treated by cranioplasty. All of them had clinical symptoms such as severe hyperactivity, speech delay, inability to communicate with others, self-mutilation (head banging), irritability, temper tantrum and mental retardation. Pre-operative CT scan and MRI showed no abnormal findings in the brain except for constricted frontal lobes. The 3D-CT scan showed the most important diagnostic findings: a ridge of the metopic suture and narrow anterior fossa. TcECD SPECT was performed on 43 patients, and demonstrated in 31 cases some degree of decreased cerebral blood flow (CBF), mainly in the bilateral frontal lobes. Post-operatively, most patients improved to some degrees. The results were compared to those of trigonocephaly patients without cranioplasty. The operated group showed better improvement in the above clinical symptoms, especially, hyperactivity, indifference to others, understanding of verbal communication, self-mutilation, irritability and temper tantrum. The post-operative SPECT represented the increased CBF in 30 out of the 31 cases. MRI and CT scan revealed expanded frontal lobes. Thus, cranioplasty may alleviate the symptoms of patients with mild to moderate trigonocephaly and developmental disorders. (author)

  8. Targeted Disruption of the LAMA3 Gene in Mice Reveals Abnormalities in Survival and Late Stage Differentiation of Epithelial Cells

    OpenAIRE

    Ryan, Maureen C.; Lee, Keesook; Miyashita, Yuko; Carter, William G.

    1999-01-01

    Laminin 5 regulates anchorage and motility of epithelial cells through integrins α6β4 and α3β1, respectively. We used targeted disruption of the LAMA3 gene, which encodes the α3 subunit of laminin 5 and other isoforms, to examine developmental functions that are regulated by adhesion to the basement membrane (BM). In homozygous null animals, profound epithelial abnormalities were detected that resulted in neonatal lethality, consistent with removal of all α3-laminin isoforms from epithelial B...

  9. A New Methodology of Viewing Extra-Axial Fluid and Cortical Abnormalities in Children with Autism via Transcranial Ultrasonography

    OpenAIRE

    James Jeffrey Bradstreet; Stefania ePacini; Marco eRuggiero

    2014-01-01

    Background: Autism spectrum disorders (ASDs) are developmental conditions of uncertain etiology which have now affected more than 1% of the school-age population of children in many developed nations. Transcranial ultrasonography (TUS) via the temporal bone appeared to be a potential window of investigation to determine the presence of both cortical abnormalities and increased extra-axial fluid (EAF). Methods: TUS was accomplished using a linear probe (10–5 MHz). Parents volunteered ASD su...

  10. Dopaminergic system abnormalities Etiopathogenesis of dystonia

    Institute of Scientific and Technical Information of China (English)

    Shuhui Wu; Huifang Shang; Xiaoyi Zou

    2008-01-01

    BACKGROUND: Much research has focused on the close relationship between etiopathogenesis of dystonia and abnormalities of the dopaminergic system. Nevertheless, details of the mechanism are still not clear.OBJECTIVE: To review studies from the past few years about pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system.RETRIEVAL STRATEGY: Using the key words "dystonia" and "dopamine", PubMed database and SCI databases were searched from January 1990 to December 2005 for relevant English publications. A total of 73 articles were searched and, initially, all articles were selected. Inclusive criteria: studies based on pathogenesis and molecular interactions involved in the relationship between dystonia and abnormalities of the dopaminergic system. Exclusive criteria: duplicated studies. A total of 19 articles were extracted after preliminary screening.LITERATURE EVALUATION: The data sources were the PubMed and SCI databases. The types of articles chosen were reviews and original articles.DATA SYNTHESIS: Metabolism and function of dopamine in the central nervous system: the chemical constitution of dopamine is a single benzene ring. The encephalic regions of dopamine synthesis and their fiber projections comprise four nervous system pathways. One of these pathways is the substantia nigra-striatum dopamine pathway, which is a side-loop of the basal ganglia circuitry that participates in movement control and plays a main role in the adjustment of extracorticospinal tract movement. Dopamine can lead to the facilitation of movement. Dystonia and abnormalities of the dopaminergic system: different modes of dopamine abnormality exist in various forms of dystonia. Abnormalities of the dopaminergic system in several primary dystonias: at present, fifteen gene loci of primary dystonia have been reported (DYT1-DYT15). The relationship between abnormalities of the dopaminergic system and the

  11. Carbamazepine for acute psychosis with eeg abnormalities

    Directory of Open Access Journals (Sweden)

    Ivković Maja

    2004-01-01

    Full Text Available Aim. To investigate the efficacy of carbamazepine as adjuvant drug therapy in acute paranoid psychosis with associated EEG abnormalities, compared to sole antipsychotic treatment. Methods. Eleven medication-naive patients diagnosed with acute paranoid psychosis with associated EEG abnormalities were divided into two treatment groups: sole fluphenazine group, with flexible dosing of 5-10 mg/day (n=6, and carbamazepine group (n=5 with the addition of carbamazepine (600 mg/day to fluphenazine treatment. Clinical Global Impression (CGI, Brief Psychiatric Rating Scale (BPRS, Scale for the Assessment of Negative Symptoms (SANS, and EEG were assessed on the baseline and after 6 weeks of treatment. Paired and two-tailed t-tests were used for statistical significance. Results. All the patients showed significant improvement of mental state after 6 weeks of treatment with no significant differences in CGI, BPRS, and total SANS scores in relation to the therapy with carbamazepine. Nevertheless, after 6 weeks of the treatment, EEG findings were significantly better in carbamazepine group, in relation to the findings from the onset of the treatment, as well as in comparison to sole fluphenazine group. Conclusion. Although carbamazepine stabilized abnormal brain electrical activities it seemed that the associated EEG abnormalities were not significant for acute psychosis observed. These preliminary results suggested that there was no convincing evidence that carbamazepine was efficient as the augmentation of antipsychotic treatment for patients with both acute paranoid psychosis and EEG abnormalities.

  12. OPHTHALMOLOGIC ABNORMALITIES IN CHILDREN WITH IMPAIRED HEARING

    Directory of Open Access Journals (Sweden)

    Inderjit

    2014-02-01

    Full Text Available AIM: To determine the nature of ophthalmologic abnormalities in severe and profound grades of hearing impaired children and to treat visual impairment if any at the earliest . MATERIAL AND METHODS: Study was conducted on100 children in the age group of 5 - 14 years with severe and profound hearing loss visiting outpatient department of Ram Lal Eye and ENT hospital Govt. Medical College Amritsar and subjected to detailed ophthalmological examination. RESULTS: 100 children in the age group 5 - 14 years with hearing impairment were enrolled for t he study , 68 had profound and 32 had severe hearing loss . Visual disorders were found to be as high as 71%. Highest percentage was seen in children aged 7 years. Majority of them (50% had refractive error. Out of these 50 children , 28(56% had myopia , 10 (20% hypermetropia and 12(24% had astigmatism . The other ophthalmic abnormalities in our study were conjunctivitis 14(19.71% , fundus abnormalities and squint 11(15.49% , blepharitis 5 (7.04% , vitamin A deficiency 6 (8.04% , amblyopia 8 (11.26% , pupil disorder 3 (4.22% , cataract 3 (4.22% and heterochromia iridis 7 (9.85%. CONCLUSION : The high prevalence of ophthalmic abnormalities in deaf children mandate screening them for possible ophthalmic abnormalities. Early diagnosis and correction of visual d isturbances would go a long way in social and professional performance of these children.

  13. Dysmorphometrics: the modelling of morphological abnormalities

    Directory of Open Access Journals (Sweden)

    Claes Peter

    2012-02-01

    Full Text Available Abstract Background The study of typical morphological variations using quantitative, morphometric descriptors has always interested biologists in general. However, unusual examples of form, such as abnormalities are often encountered in biomedical sciences. Despite the long history of morphometrics, the means to identify and quantify such unusual form differences remains limited. Methods A theoretical concept, called dysmorphometrics, is introduced augmenting current geometric morphometrics with a focus on identifying and modelling form abnormalities. Dysmorphometrics applies the paradigm of detecting form differences as outliers compared to an appropriate norm. To achieve this, the likelihood formulation of landmark superimpositions is extended with outlier processes explicitly introducing a latent variable coding for abnormalities. A tractable solution to this augmented superimposition problem is obtained using Expectation-Maximization. The topography of detected abnormalities is encoded in a dysmorphogram. Results We demonstrate the use of dysmorphometrics to measure abrupt changes in time, asymmetry and discordancy in a set of human faces presenting with facial abnormalities. Conclusion The results clearly illustrate the unique power to reveal unusual form differences given only normative data with clear applications in both biomedical practice & research.

  14. Prevalence of asymptomatic urinary abnormalities among adolescents.

    Science.gov (United States)

    Fouad, Mohamed; Boraie, Maher

    2016-05-01

    To determine the prevalence of asymptomatic urinary abnormalities in adolescents, first morning clean mid-stream urine specimens were obtained from 2500 individuals and examined by dipstick and light microscopy. Adolescents with abnormal screening results were reexamined after two weeks and those who had abnormal results twice were subjected to systemic clinical examination and further clinical and laboratory investigations. Eight hundred and three (32.1%) individuals had urinary abnormalities at the first screening, which significantly decreased to 345 (13.8%) at the second screening, (P adolescents who had persistent urine abnormalities; 228 (9.1%) individuals had non glomerular hematuria. The hematuria was isolated in 150 (6%) individuals, combined with leukocyturia in 83 (3.3%) individuals, and combined with proteinuria in 12 (0.5%) individuals. Leukocyturia was detected in 150 (6%) of all studied adolescents; it was isolated in 39 (1.6%) individuals and combined with proteinuria in 28 (1.1%) of them. Asymptomatic bacteriuria was detected in 23 (0.9%) of all studied adolescents; all the cases were females. Proteinuria was detected in 65 (2.6%) of all the studied adolescents; 45 (1.8%) individuals had adolescents from rural than urban areas (P adolescents in our population.

  15. The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy?

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, Paul D. [University of Sheffield, Academic Unit of Radiology, Sheffield (United Kingdom); Royal Hallamshire Hospital, Academic Unit of Radiology, Sheffield (United Kingdom); Batty, Ruth; Raghavan, Ashok; Connolly, Daniel J.A. [Sheffield Children' s Hospital Trust, Department of Radiology, Sheffield (United Kingdom); Warren, Daniel; Hart, Anthony [University of Sheffield, Academic Unit of Radiology, Sheffield (United Kingdom); Sharrard, Mark [Sheffield Children' s Hospital Trust, Department of Paediatrics, Sheffield (United Kingdom); Mordekar, Santosh R. [Sheffield Children' s Hospital Trust, Department of Paediatric Neurology, Sheffield (United Kingdom)

    2011-09-15

    Developmental delay is a common problem in paediatric practice and many children with developmental delay are referred for MR imaging. Our study was performed as part of a continuing audit process to optimise our MR protocol and case selection. We performed MR imaging and spectroscopy protocol on 157 children with developmental delay. We analysed the effect of these interventions by looking at the overall detection rate of relevant pathology and in particular subgroups of the children. 71% of the children had normal MR imaging, 10% had non-specific findings and 19% had specific abnormalities on MR imaging. The overall risk of having a specific structural abnormality with isolated developmental was 7.5% but if other neurological symptoms/signs were present the risk was 28%. Two children had abnormal spectroscopic findings, one with tuberous sclerosis and the other with absent brain creatine. Case selection for MR imaging is important in children with developmental delay. The best strategies for selecting children for MR are either; not performing MR with developmental delay in one domain only or performing MR with developmental delay in three or four domains or if there are other neurological features. (orig.)

  16. The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy?

    International Nuclear Information System (INIS)

    Developmental delay is a common problem in paediatric practice and many children with developmental delay are referred for MR imaging. Our study was performed as part of a continuing audit process to optimise our MR protocol and case selection. We performed MR imaging and spectroscopy protocol on 157 children with developmental delay. We analysed the effect of these interventions by looking at the overall detection rate of relevant pathology and in particular subgroups of the children. 71% of the children had normal MR imaging, 10% had non-specific findings and 19% had specific abnormalities on MR imaging. The overall risk of having a specific structural abnormality with isolated developmental was 7.5% but if other neurological symptoms/signs were present the risk was 28%. Two children had abnormal spectroscopic findings, one with tuberous sclerosis and the other with absent brain creatine. Case selection for MR imaging is important in children with developmental delay. The best strategies for selecting children for MR are either; not performing MR with developmental delay in one domain only or performing MR with developmental delay in three or four domains or if there are other neurological features. (orig.)

  17. A common left occipito-temporal dysfunction in developmental dyslexia and acquired letter-by-letter reading?

    Directory of Open Access Journals (Sweden)

    Fabio Richlan

    Full Text Available We used fMRI to examine functional brain abnormalities of German-speaking dyslexics who suffer from slow effortful reading but not from a reading accuracy problem. Similar to acquired cases of letter-by-letter reading, the developmental cases exhibited an abnormal strong effect of length (i.e., number of letters on response time for words and pseudowords.Corresponding to lesions of left occipito-temporal (OT regions in acquired cases, we found a dysfunction of this region in our developmental cases who failed to exhibit responsiveness of left OT regions to the length of words and pseudowords. This abnormality in the left OT cortex was accompanied by absent responsiveness to increased sublexical reading demands in phonological inferior frontal gyrus (IFG regions. Interestingly, there was no abnormality in the left superior temporal cortex which--corresponding to the onological deficit explanation--is considered to be the prime locus of the reading difficulties of developmental dyslexia cases.The present functional imaging results suggest that developmental dyslexia similar to acquired letter-by-letter reading is due to a primary dysfunction of left OT regions.

  18. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

    DEFF Research Database (Denmark)

    Tos, T; Alp, M Y; Karacan, C D;

    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 de...

  19. Enhanced monitoring of abnormal emergency department demands

    KAUST Repository

    Harrou, Fouzi

    2016-06-13

    This paper presents a statistical technique for detecting signs of abnormal situation generated by the influx of patients at emergency department (ED). The monitoring strategy developed was able to provide early alert mechanisms in the event of abnormal situations caused by abnormal patient arrivals to the ED. More specifically, This work proposed the application of autoregressive moving average (ARMA) models combined with the generalized likelihood ratio (GLR) test for anomaly-detection. ARMA was used as the modelling framework of the ARMA-based GLR anomaly-detection methodology. The GLR test was applied to the uncorrelated residuals obtained from the ARMA model to detect anomalies when the data did not fit the reference ARMA model. The ARMA-based GLR hypothesis testing scheme was successfully applied to the practical data collected from the database of the pediatric emergency department (PED) at Lille regional hospital center, France. © 2015 IEEE.

  20. Abnormal Head Position in Infantile Nystagmus Syndrome

    Science.gov (United States)

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  1. Advances in understanding paternally transmitted Chromosomal Abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  2. Parsing abnormal grain growth in specialty aluminas

    Science.gov (United States)

    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

  3. A mechanistic view of polybrominated diphenyl ether (PBDE) developmental neurotoxicity.

    Science.gov (United States)

    Costa, Lucio G; de Laat, Rian; Tagliaferri, Sara; Pellacani, Claudia

    2014-10-15

    Polybrominated diphenyl ethers (PBDEs), extensively used in the past few decades as flame retardants in a variety of consumer products, have become world-wide persistent environmental pollutants. Levels in North America are usually higher than those in Europe and Asia, and body burden is 3-to-9-fold higher in infants and toddlers than in adults. The latter has raised concern for potential developmental toxicity and neurotoxicity of PBDEs. Experimental studies in animals and epidemiological observations in humans suggest that PBDEs may be developmental neurotoxicants. Pre- and/or post-natal exposure to PBDEs may cause long-lasting behavioral abnormalities, particularly in the domains of motor activity and cognition. The mechanisms underlying the developmental neurotoxic effects of PBDEs are not known, though several hypotheses have been put forward. One general mode of action relates to the ability of PBDEs to impair thyroid hormone homeostasis, thus indirectly affecting the developing brain. An alternative or additional mode of action involves a direct effect of PBDEs on nervous system cells; PBDEs can cause oxidative stress-related damage (DNA damage, mitochondrial dysfunction, apoptosis), and interfere with signal transduction (particularly calcium signaling), and with neurotransmitter systems. Important issues such as bioavailability and metabolism of PBDEs, extrapolation of results to low level of exposures, and the potential effects of interactions among PBDE congeners and between PBDEs and other contaminants also need to be taken into account. PMID:24270005

  4. Persistent Mosaicism for 12p Duplication/Triplication Chromosome Structural Abnormality in Peripheral Blood

    Directory of Open Access Journals (Sweden)

    Amy L. Shackelford

    2013-01-01

    Full Text Available We present a rare case of mosaicism for a structural abnormality of chromosome 12 in a patient with phenotypic features of Pallister-Killian syndrome. A six-month-old child with dysmorphic features, exotropia, hypotonia, and developmental delay was mosaic for both a normal karyotype and a cell line with 12p duplication/triplication in 25 percent of metaphase cells. Utilization of fluorescence in situ hybridization (FISH identified three copies of probes from the end of the short arm of chromosome 12 (TEL(12p13 locus and the subtelomere (12p terminal on the structurally abnormal chromosome 12. Genome-wide SNP array analysis revealed that the regions of duplication and triplication were of maternal origin. The abnormal cell line in our patient was present at 25 percent at six months and 19 months of age in both metaphase and interphase cells from peripheral blood, where typically the isochromosome 12p is absent in the newborn. This may suggest that the gene(s resulting in a growth disadvantage of abnormal cells in peripheral blood of patients with tetrasomy 12p may not have the same influence when present in only three copies.

  5. pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish.

    Directory of Open Access Journals (Sweden)

    Yi Liu

    Full Text Available Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects, dental hypoplasia, craniofacial dysmorphism and umbilical abnormalities. Characterization of the PITX2 pathway and identification of the mechanisms underlying the anomalies associated with PITX2 deficiency is important for better understanding of normal development and disease; studies of pitx2 function in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known alternative transcripts of the pitx2 gene; morphant embryos generated with the pitx2(ex4/5 splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking the third (recognition helix of the DNA-binding homeodomain. The morphological phenotype of pitx2(ex4/5 morphants included small head and eyes, jaw abnormalities and pericardial edema; lethality was observed at ∼6-8-dpf. Cartilage staining revealed a reduction in size and an abnormal shape/position of the elements of the mandibular and hyoid pharyngeal arches; the ceratobranchial arches were also decreased in size. Histological and marker analyses of the misshapen eyes of the pitx2(ex4/5 morphants identified anterior segment dysgenesis and disordered hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye and craniofacial development in zebrafish and, therefore, that PITX2/pitx2 function is conserved in vertebrates.

  6. Abnormal Repetitive Behaviours: Shared Phenomenology and Pathophysiology

    Science.gov (United States)

    Muehlmann, A. M.; Lewis, M. H.

    2012-01-01

    Background: Self-injurious behaviour (SIB) is a devastating problem observed in individuals with various neurodevelopmental disorders, including specific genetic syndromes as well as idiopathic intellectual and developmental disability. Although an increased prevalence of SIB has been documented in specific genetic mutations, little is known about…

  7. Nonpathologizing trauma interventions in abnormal psychology courses.

    Science.gov (United States)

    Hoover, Stephanie M; Luchner, Andrew F; Pickett, Rachel F

    2016-01-01

    Because abnormal psychology courses presuppose a focus on pathological human functioning, nonpathologizing interventions within these classes are particularly powerful and can reach survivors, bystanders, and perpetrators. Interventions are needed to improve the social response to trauma on college campuses. By applying psychodynamic and feminist multicultural theory, instructors can deliver nonpathologizing interventions about trauma and trauma response within these classes. We recommend class-based interventions with the following aims: (a) intentionally using nonpathologizing language, (b) normalizing trauma responses, (c) subjectively defining trauma, (d) challenging secondary victimization, and (e) questioning the delineation of abnormal and normal. The recommendations promote implications for instructor self-reflection, therapy interventions, and future research.

  8. Anaesthesia in operations of congenital craniofacial abnormalities

    Directory of Open Access Journals (Sweden)

    Jahangirie B

    1996-07-01

    Full Text Available Some syndromes that are characterized by abnormalities of the skull, facial bones, and mandibule, most of these patients are from the pediatric population. For the anaesthetic management of patients with various craniofacial dysostosis are as follows: 1 The necessary for careful evaluation of the airway by simply observing the patient. 2 Evaluation of the patient for abnormalities of the heart and lungs. 3 Patients may also have increased intracranial pressure. 4 Anaesthetic drugs and techniques: no particular drugs is recommended. Techniques controlled ventilation. 5 All patients should be cared in the intensive care unit after operation between 24-48 hours

  9. Hemorheological abnormalities in human arterial hypertension

    Science.gov (United States)

    Lo Presti, Rosalia; Hopps, Eugenia; Caimi, Gregorio

    2014-05-01

    Blood rheology is impaired in hypertensive patients. The alteration involves blood and plasma viscosity, and the erythrocyte behaviour is often abnormal. The hemorheological pattern appears to be related to some pathophysiological mechanisms of hypertension and to organ damage, in particular left ventricular hypertrophy and myocardial ischemia. Abnormalities have been observed in erythrocyte membrane fluidity, explored by fluorescence spectroscopy and electron spin resonance. This may be relevant for red cell flow in microvessels and oxygen delivery to tissues. Although blood viscosity is not a direct target of antihypertensive therapy, the rheological properties of blood play a role in the pathophysiology of arterial hypertension and its vascular complications.

  10. The renaissance of developmental biology.

    Science.gov (United States)

    St Johnston, Daniel

    2015-05-01

    Since its heyday in the 1980s and 90s, the field of developmental biology has gone into decline; in part because it has been eclipsed by the rise of genomics and stem cell biology, and in part because it has seemed less pertinent in an era with so much focus on translational impact. In this essay, I argue that recent progress in genome-wide analyses and stem cell research, coupled with technological advances in imaging and genome editing, have created the conditions for the renaissance of a new wave of developmental biology with greater translational relevance.

  11. Update of Thyroid Developmental Genes.

    Science.gov (United States)

    Stoupa, Athanasia; Kariyawasam, Dulanjalee; Carré, Aurore; Polak, Michel

    2016-06-01

    Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine-sufficient regions and includes a spectrum of developmental anomalies. The genetic components of TD are complex. Although a sporadic disease, advances in developmental biology have revealed monogenetic forms of TD. Inheritance is not based on a simple Mendelian pattern and additional genetic elements might contribute to the phenotypic spectrum. This article summarizes the key steps of normal thyroid development and provides an update on responsible genes and underlying mechanisms of TD. Up-to-date technologies in genetics and biology will allow us to advance in our knowledge of TD. PMID:27241962

  12. Vascular alterations underlie developmental problems manifested in cloned cattle before or after birth.

    Directory of Open Access Journals (Sweden)

    Paulo Cesar Maiorka

    Full Text Available Although assisted reproductive techniques are commonly applied in humans and animals, they are frequently associated with major developmental deficits and reduced viability. To explore abnormalities associated with cloning or nuclear transfer (NT as the most invasive of these methods, we used a bovine model to characterize abnormalities. Detailed necropsy examinations were done on 13 calves that died soon after birth; in addition, we included data from embryos and fetuses (produced by NT that terminated prematurely. Bovine clones that survived until the neonatal period differed quantitatively and qualitatively from in-vivo-derived cattle. Although alterations affected a variety of organs (e.g. heart, lung and liver, there was a clear association with abberant vascular developmental during the early intrauterine phase. Therefore, we concluded that vascular problems were key alterations induced by cloning (presumably via epigenetic modifications.

  13. Impairment of recollection but not familiarity in a case of developmental amnesia.

    Science.gov (United States)

    Brandt, Karen R; Gardiner, John M; Vargha-Khadem, Faraneh; Baddeley, Alan D; Mishkin, Mortimer

    2008-01-01

    In a re-examination of the recognition memory of Jon, a young adult with developmental amnesia due to perinatal hippocampal damage, we used a test procedure that provides estimates of the separate contributions to recognition of recollection and familiarity. Comparison between Jon and his controls revealed that, whereas he was unimpaired in the familiarity process, he showed abnormally low levels of recollection, supporting the view that the hippocampus mediates the latter process selectively. PMID:19090415

  14. Developmental Defects in a Caenorhabditis elegans Model for Type III Galactosemia

    OpenAIRE

    Brokate-Llanos, Ana M.; Monje, José M.; Murdoch, Piedad del Socorro; Manuel J. Muñoz

    2014-01-01

    Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of developmental abnormalities, likely resulting from the impairment of the glycosy...

  15. Impairment of recollection but not familiarity in a case of developmental amnesia

    OpenAIRE

    Brandt, Karen R.; Gardiner, John M.; Vargha-Khadem, Faraneh; Baddeley, Alan D.; Mishkin, Mortimer

    2008-01-01

    In a re-examination of the recognition memory of Jon, a young adult with developmental amnesia due to perinatal hippocampal damage, we used a test procedure that provides estimates of the separate contributions to recognition of recollection and familiarity. Comparison between Jon and his controls revealed that, whereas he was unimpaired in the familiarity process, he showed abnormally low levels of recollection, supporting the view that the hippocampus mediates the latter process selectively.

  16. Reversible splenial abnormality in hypoglycemic encephalopathy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ji Hyun; Choi, Jeong Yoon; Koh, Seong-Beom [Korea University School of Medicine, Department of Neurology, Guro Hospital, Seoul (Korea); Lee, Younghen [Korea University School of Medicine, Department of Radiology, Ansan Hospital, Ansan City (Korea)

    2007-03-15

    Lesions involving the splenium of the corpus callosum (SCC) have been rarely reported in cases of hypoglycemic brain injury. We identified signal abnormalities in the SCC in three adult patients with hypoglycemic encephalopathy by using diffusion-weighted imaging (DWI) on a 1.5-T MR scanner. Repeat DWI was performed in all patients following a marked clinical improvement, and MR angiography and routine MRI were also performed. We examined each patient's detailed medical history and blood laboratory tests in order to exclude other conditions causing similar SCC abnormalities. Initial DWI was performed during which each patient showed altered mental status that was attributed to profound hypoglycemia. We observed an identical pattern of DWI abnormality characterized by high signals in the SCC with apparent diffusion coefficient reductions that were reversed completely within several days following appropriate correction of hypoglycemia. T2-weighted or FLAIR images also showed no residual lesion in the SCC and MR angiography was normal in all patients. These case reports suggest that the SCC should be added to the list of selective vulnerability to hypoglycemia and that hypoglycemia, in turn, be included in the differential diagnosis of reversible SCC abnormalities. (orig.)

  17. Reversible splenial abnormality in hypoglycemic encephalopathy

    International Nuclear Information System (INIS)

    Lesions involving the splenium of the corpus callosum (SCC) have been rarely reported in cases of hypoglycemic brain injury. We identified signal abnormalities in the SCC in three adult patients with hypoglycemic encephalopathy by using diffusion-weighted imaging (DWI) on a 1.5-T MR scanner. Repeat DWI was performed in all patients following a marked clinical improvement, and MR angiography and routine MRI were also performed. We examined each patient's detailed medical history and blood laboratory tests in order to exclude other conditions causing similar SCC abnormalities. Initial DWI was performed during which each patient showed altered mental status that was attributed to profound hypoglycemia. We observed an identical pattern of DWI abnormality characterized by high signals in the SCC with apparent diffusion coefficient reductions that were reversed completely within several days following appropriate correction of hypoglycemia. T2-weighted or FLAIR images also showed no residual lesion in the SCC and MR angiography was normal in all patients. These case reports suggest that the SCC should be added to the list of selective vulnerability to hypoglycemia and that hypoglycemia, in turn, be included in the differential diagnosis of reversible SCC abnormalities. (orig.)

  18. Abnormal Events for Emergency Trip in HANARO

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Guk Hun; Choi, M. J.; Park, S. I.; Kim, H. W.; Kim, S. J.; Park, J. H.; Kwon, I. C

    2006-12-15

    This report gathers abnormal events related to emergency trip of HANARO that happened during its operation over 10 years since the first criticality on February 1995. The collected examples will be utilized to the HANARO's operators as a useful guide.

  19. Psychology Faculty Perceptions of Abnormal Psychology Textbooks

    Science.gov (United States)

    Rapport, Zachary

    2011-01-01

    The problem. The purpose of the current study was to investigate the perceptions and opinions of psychology professors regarding the accuracy and inclusiveness of abnormal psychology textbooks. It sought answers from psychology professors to the following questions: (1) What are the expectations of the psychology faculty at a private university of…

  20. Dynamic Abnormal Grain Growth in Refractory Metals

    Science.gov (United States)

    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.

  1. Esophageal motility abnormalities in gastroesophageal reflux disease

    Institute of Scientific and Technical Information of China (English)

    Irene; Martinucci; Nicola; de; Bortoli; Maria; Giacchino; Giorgia; Bodini; Elisa; Marabotto; Santino; Marchi; Vincenzo; Savarino; Edoardo; Savarino

    2014-01-01

    Esophageal motility abnormalities are among the main factors implicated in the pathogenesis of gastroesophageal reflux disease. The recent introduction in clinical and research practice of novel esophageal testing has markedly improved our understanding of the mechanisms contributing to the development of gastroesophageal reflux disease, allowing a better management of patients with this disorder. In this context, the present article intends to provide an overview of the current literature about esophageal motility dysfunctions in patients with gastroesophageal reflux disease. Esophageal manometry, by recording intraluminal pressure, represents the gold standard to diagnose esophagealmotility abnormalities. In particular, using novel techniques, such as high resolution manometry with or without concurrent intraluminal impedance monitoring, transient lower esophageal sphincter (LES) relaxations, hypotensive LES, ineffective esophageal peristalsis and bolus transit abnormalities have been better defined and strongly implicated in gastroesophageal reflux disease development. Overall, recent findings suggest that esophageal motility abnormalities are increasingly prevalent with increasing severity of reflux disease, from nonerosive reflux disease to erosive reflux disease and Barrett’s esophagus. Characterizing esophageal dysmotility among different subgroups of patients with reflux disease may represent a fundamental approach to properly diagnose these patients and, thus, to set up the best therapeutic management. Currently, surgery represents the only reliable way to restore the esophagogastric junction integrity and to reduce transient LES relaxations that are considered to be the predominant mechanism by which gastric contents can enter the esophagus. On that ground, more in depth future studies assessing the pathogenetic role of dysmotility in patients with reflux disease are warranted.

  2. Craniofacial abnormalities among patients with Edwards Syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  3. Vitamin D and Risk of Neuroimaging Abnormalities.

    Science.gov (United States)

    Littlejohns, Thomas J; Kos, Katarina; Henley, William E; Lang, Iain A; Annweiler, Cedric; Beauchet, Olivier; Chaves, Paulo H M; Kestenbaum, Bryan R; Kuller, Lewis H; Langa, Kenneth M; Lopez, Oscar L; Llewellyn, David J

    2016-01-01

    Vitamin D deficiency has been linked with an increased risk of incident all-cause dementia and Alzheimer's disease. The aim of the current study was to explore the potential mechanisms underlying these associations by determining whether low vitamin D concentrations are associated with the development of incident cerebrovascular and neurodegenerative neuroimaging abnormalities. The population consisted of 1,658 participants aged ≥65 years from the US-based Cardiovascular Health Study who were free from prevalent cardiovascular disease, stroke and dementia at baseline in 1992-93. Serum 25-hydroxyvitamin D (25(OH)D) concentrations were determined by liquid chromatography-tandem mass spectrometry from blood samples collected at baseline. The first MRI scan was conducted between 1991-1994 and the second MRI scan was conducted between 1997-1999. Change in white matter grade, ventricular grade and presence of infarcts between MRI scan one and two were used to define neuroimaging abnormalities. During a mean follow-up of 5.0 years, serum 25(OH)D status was not significantly associated with the development of any neuroimaging abnormalities. Using logistic regression models, the multivariate adjusted odds ratios (95% confidence interval) for worsening white matter grade in participants who were severely 25(OH)D deficient (vitamin D concentrations could not be shown to be associated with the development of cerebrovascular or neurodegenerative neuroimaging abnormalities in Cardiovascular Health Study participants. PMID:27166613

  4. Writing Stages: A Developmental Hierarchy.

    Science.gov (United States)

    Milner, Joseph O.

    The developmental stages of writing can be related to Jean Piaget's final three stages of development (preoperational, concrete operational, and formal operational) and to the narrative, descriptive, explanative, analytical, and artistic rhetorical modes. As the child enters kindergarten or the first grade, narrative blooms. By this age most young…

  5. Developmental Principles: Fact or Fiction

    Directory of Open Access Journals (Sweden)

    A. J. Durston

    2012-01-01

    Full Text Available While still at school, most of us are deeply impressed by the underlying principles that so beautifully explain why the chemical elements are ordered as they are in the periodic table, and may wonder, with the theoretician Brian Goodwin, “whether there might be equally powerful principles that account for the awe-inspiring diversity of body forms in the living realm”. We have considered the arguments for developmental principles, conclude that they do exist and have specifically identified features that may generate principles associated with Hox patterning of the main body axis in bilaterian metazoa in general and in the vertebrates in particular. We wonder whether this exercise serves any purpose. The features we discuss were already known to us as parts of developmental mechanisms and defining developmental principles (how, and at which level? adds no insight. We also see little profit in the proposal by Goodwin that there are principles outside the emerging genetic mechanisms that need to be taken into account. The emerging developmental genetic hierarchies already reveal a wealth of interesting phenomena, whatever we choose to call them.

  6. Developmental control of cell division

    NARCIS (Netherlands)

    Boxem, M. (Mike)

    2002-01-01

    During development of multicellular organisms, cell divisions need to be coordinated with the developmental program of the entire organism. Although the mechanisms that drive cells through the division cycle are well understood, very little is known about the pathways that link extracellular signals

  7. Developmental Dyscalculia and Medical Assessment.

    Science.gov (United States)

    Shalev, Ruth S.; Gross-Tsur, Varda

    1993-01-01

    Medical evaluation of seven third-grade children with developmental dyscalculia in a mainstream setting identified neurological conditions (including petit mal seizures, Gerstmann syndrome, and attention deficit disorder without hyperactivity) in all the children. Findings suggest that children who are not improving academically should undergo…

  8. Developmental trends in adaptive memory.

    Science.gov (United States)

    Otgaar, Henry; Howe, Mark L; Smeets, Tom; Garner, Sarah R

    2014-01-01

    Recent studies have revealed that memory is enhanced when information is processed for fitness-related purposes. The main objective of the current experiments was to test developmental trends in the evolutionary foundation of memory using different types of stimuli and paradigms. In Experiment 1, 11-year-olds and adults were presented with neutral, negative, and survival-related DRM word lists. We found a memory benefit for the survival-related words and showed that false memories were more likely to be elicited for the survival-related word lists than for the other lists. Experiment 2 examined developmental trends in the survival processing paradigm using neutral, negative, and survival-related pictures. A survival processing advantage was found for survival-related pictures in adults, for negative pictures in 11/12-year-olds, and for neutral pictures in 7/8-year-olds. In Experiment 3, 11/12-year-olds and adults had to imagine the standard survival scenario or an adapted survival condition (or pleasantness condition) that was designed to reduce the possibilities for elaborative processing. We found superior memory retention for both survival scenarios in children and adults. Collectively, our results evidently show that the survival processing advantage is developmentally invariant and that certain proximate mechanisms (elaboration and distinctiveness) underlie these developmental trends. PMID:23521432

  9. Transforming Developmental Education in Texas

    Science.gov (United States)

    Journal of Developmental Education, 2014

    2014-01-01

    In recent years, with support from the Texas Legislature, the Texas Higher Education Coordinating Board has funded various developmental education initiatives, including research and evaluation efforts, to help Texas public institutions of higher education provide more effective programs and services to underprepared students. Based on evaluation…

  10. Developmental cholinotoxicants: nicotine and chlorpyrifos.

    OpenAIRE

    Slotkin, T A

    1999-01-01

    The stimulation of cholinergic receptors in target cells during a critical developmental period provides signals that influence cell replication and differentiation. Accordingly, environmental agents that promote cholinergic activity evoke neurodevelopmental damage because of the inappropriate timing or intensity of stimulation. Nicotine evokes mitotic arrest in brain cells possessing high concentrations of nicotinic cholinergic receptors. In addition, the cholinergic overstimulation programs...

  11. The diversification of developmental biology.

    Science.gov (United States)

    Crowe, Nathan; Dietrich, Michael R; Alomepe, Beverly S; Antrim, Amelia F; ByrneSim, Bay Lauris; He, Yi

    2015-10-01

    In the 1960s, "developmental biology" became the dominant term to describe some of the research that had previously been included under the rubrics of embryology, growth, morphology, and physiology. As scientific societies formed under this new label, a new discipline took shape. Historians, however, have a number of different perspectives on what changes led to this new field of developmental biology and how the field itself was constituted during this period. Using the General Embryological Information Service, a global index of post-World War II development-related research, we have documented and visualized significant changes in the kinds of research that occurred as this new field formed. In particular, our analysis supports the claim that the transition toward developmental biology was marked by a growth in new topics and forms of research. Although many historians privilege the role of molecular biology and/or the molecularization of biology in general during this formative period, we have found that the influence of molecular biology is not sufficient to account for the wide range of new research that constituted developmental biology at the time. Overall, our work creates a robust characterization of the changes that occurred with regard to research on growth and development in the decades following World War II and provides a context for future work on the specific drivers of those changes. PMID:26056745

  12. Topographical ability in Developmental Prosopagnosia

    DEFF Research Database (Denmark)

    Klargaard, Solja; Starrfelt, Randi; Petersen, Anders;

    2016-01-01

    Anecdotal evidence suggests a relation between impaired spatial (navigational) processing and developmental prosopagnosia (DP). To address this formally, we tested nine individuals with DP and 18 matched controls on a four-choice match-to-sample test of (concurrent) topographical perception...

  13. Causal Inference and Developmental Psychology

    Science.gov (United States)

    Foster, E. Michael

    2010-01-01

    Causal inference is of central importance to developmental psychology. Many key questions in the field revolve around improving the lives of children and their families. These include identifying risk factors that if manipulated in some way would foster child development. Such a task inherently involves causal inference: One wants to know whether…

  14. Vygotsky's Developmental and Educational Psychology

    Science.gov (United States)

    Langford, Peter E.

    2005-01-01

    Vygotsky is widely considered one of the most significant and influential psychologists of the twentieth century. Nevertheless, true appreciation of his theories has been hindered by a lack of understanding of the background to his thought. "Vygotsky's Developmental and Educational Psychology" aims to demonstrate how we can come to a new and…

  15. Administration on Intellectual and Developmental Disabilities

    Science.gov (United States)

    ... Us Home > Programs & Activities > Administration on Disabilities > AIDD Administration on Intellectual and Developmental Disabilities (AIDD) Realizing the ... AIDD has a new address and phone number: Administration for Intellectual and Developmental Disabilities, Administration for Community ...

  16. Developmental Education Repeaters: Stories about Repetition

    Science.gov (United States)

    O'Dell, Jade J.

    2012-01-01

    Developmental education students make up almost half of the community college population in the United States (Bettinger & Long, 2005). Approximately 42% of first-time freshmen at community colleges must enroll in at least one developmental education course in English, reading and/or math (NCES, 2010). Many developmental education students are…

  17. 29 CFR 1952.231 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.231 Section 1952.231 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR... schedule. The Kentucky state plan is developmental. The following is the developmental schedule as...

  18. 29 CFR 1952.123 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.123 Section 1952.123 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR... schedule. The Washington State plan is developmental. The following is the developmental schedule...

  19. 29 CFR 1952.221 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.221 Section 1952.221 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR... schedule. The Tennessee state plan is developmental. The following is the developmental schedule...

  20. Developmental Modes and Developmental Mechanisms can Channel Brain Evolution

    OpenAIRE

    Charvet, Christine J.; Georg F Striedter

    2011-01-01

    Anseriform birds (ducks and geese) as well as parrots and songbirds have evolved a disproportionately enlarged telencephalon compared with many other birds. However, parrots and songbirds differ from anseriform birds in their mode of development. Whereas ducks and geese are precocial (e.g., hatchlings feed on their own), parrots and songbirds are altricial (e.g., hatchlings are fed by their parents). We here consider how developmental modes may limit and facilitate specific changes in the mec...

  1. Embalse NGS: Abnormal event procedures development lifecycle

    International Nuclear Information System (INIS)

    Based on the present used philosophy in Canada and in Atucha Nuclear Generating Station (Argentina) it was decided to develop the Abnormal Event Procedures (EOP's) in a logical diagram format. The EOP's have in general two parts: the diagnosis and the operative action to mitigate the event. Some serious incidents can be resolved by the EOP's, but the philosophy is first, to satisfy the EOP's requirements. Taking into account the operating experience, the Final Safety Report and the results of simulations done by appropriate codes, it was possible to obtain the corresponding sequence for each abnormal event. With the information available in the Control Room (windows, alarms, trends, etc) for each part of the EOP's was associated the instrumentation that the operator must observe. 3 figs

  2. Abnormal fetal head shape: aetiology and management

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; David, Anna; Thomasson, Louise;

    2007-01-01

    Background: Abnormal head shape is an uncommon finding on prenatal ultrasound, often associated with breech presentation, spinabifida, aneuploidy or secondary to oligohydramnios or fetal position. Other aetiologies are rarer and may be more difficult to define. Objective: To determine the aetiology...... (lemon-shaped), 18.4% with aneuploidy (mostly strawberry-shaped). 19.5% were dolicocephalic, most secondary to fetal position or oligohydramnios (see table). 13 had confirmed craniosynostosis, including thanatophoric dysplasia, Craniofrontonasal dysplasia, Aperts syndrome, Baller-Gerold syndrome, I......-cell disease, Muenke craniosynostosis and two with an as yet undefined craniosynostosis syndrome. Overall, 16.5 % had an underlying genetic syndrome. Conclusions: Abnormal fetal head shape may be a normal variant, but is commonly associated with a wide variety of underlying pathologies. In view of the high...

  3. Spinal cord injury without radiographic abnormality

    Directory of Open Access Journals (Sweden)

    Singh Anil

    2006-01-01

    Full Text Available Spinal cord injury without radiological abnormality is rare in adults. Below we present a case report of 20 yrs old male with isolated cervical cord injury, without accompanying vertebral dislocation or fracture involving the spinal canal rim. He fell down on plain and smooth ground while carrying 40 kg weight overhead and developed quadriparesis with difficulty in respiration. Plain radiographs of the neck revealed no fractures or dislocations. MRI showed bulky spinal cord and an abnormal hyper intense signal on the T2W image from C2 vertebral body level to C3/4 intervertebral disc level predominantly in the anterior aspect of the cord The patient was managed conservatively with head halter traction and invasive ventilatory support for the initial 7 days period in the ICU. In our patient recovery was good and most of the neurological deficit improved over 4 weeks with conservative management.

  4. [Psychiatric manifestations due to abnormal glucocorticoid levels].

    Science.gov (United States)

    Lommerse, K M; Dijkstra, F N; Boeke, A J P; Eekhoff, E M W; Jacobs, G E

    2016-01-01

    This clinical case presentation describes the disease trajectory in two patients who presented with psychiatric symptoms as a result of abnormal serum glucocorticoid levels. One case involves a 58-year-old man with hypercortisolism, the other case concerns a 55-year-old woman with hypocortisolism. In both cases there was a considerable diagnostic delay in recognizing the underlying adrenal gland pathology. Abnormal glucocorticoid levels, caused by endocrine disorders, often results in psychiatric symptoms. Delay in diagnosis may have adverse consequences. Hyper- or hypocortisolism should be considered in patients who present with an atypical presentation of psychiatric symptoms. Moreover, the absence of specific physical signs or symptoms at first presentation in such patients does not exclude an underlying endocrinological cause. Therefore, physical and psychiatric reassessment of such patients should be considered at regular intervals. PMID:27507414

  5. Abnormal cervical cytology and health care use

    DEFF Research Database (Denmark)

    Frederiksen, Maria Eiholm; Baillet, Miguel Vázquez-Prada; Dugué, Pierre-Antoine;

    2015-01-01

    OBJECTIVE: This study aimed to assess the long-term use of health care services in women with abnormal cytology results compared to women with normal cytology results. METHODS: We did a nationwide population-based study, using women aged 23 to 59years participating in the national organized......" the cytology result and for the 5-year period "after" the result. RESULTS: During the "before" period exposed women had more contacts to GPs, more contacts to psychologists/psychiatrist, and more hospital admissions than non-exposed women. In both exposed and non-exposed women, health care use increased from...... the "before" to the "after" period. This increase was significantly higher for exposed than non-exposed women regarding contacts to GP, admissions to hospitals, and drug use. CONCLUSION: Women with abnormal cytology results constitute a selected group with a higher health care use than other women even before...

  6. Migraine and structural abnormalities in the brain

    DEFF Research Database (Denmark)

    Hougaard, Anders; Amin, Faisal Mohammad; Ashina, Messoud

    2014-01-01

    PURPOSE OF REVIEW: The aim is to provide an overview of recent studies of structural brain abnormalities in migraine and to discuss the potential clinical significance of their findings. RECENT FINDINGS: Brain structure continues to be a topic of extensive research in migraine. Despite advances...... in neuroimaging techniques, it is not yet clear if migraine is associated with grey matter changes. Recent large population-based studies sustain the notion of increased prevalence of white matter abnormalities in migraine, and possibly of silent infarct-like lesions. The clinical relevance of this association...... is not clear. Structural changes are not related to cognitive decline, but a link to an increased risk of stroke, especially in patients with aura, cannot be ruled out. SUMMARY: Migraine may be a risk factor for structural changes in the brain. It is not yet clear how factors such as migraine sub-type, attack...

  7. Predicting gas in place in abnormal reservoirs

    Energy Technology Data Exchange (ETDEWEB)

    Stelly, O.V. II; Farshad, F.F.

    1981-06-01

    Application of the conventional gas material balance equation to abnormally pressured volumetric reservoirs results in erroneous estimates of ultimate recovery. In view of the increasing number and importance of this type of reservoir, the program presented results in more realistic predictions. In abnormally pressured reservoirs, the formation is not supporting as great a portion of the overburden stress. Thus, when pressure is depleted, the sand grains and connate water of the formation expand. These factors tend to reduce the available hydrocarbon pore space acting as a drive mechanism. Thus, production is due to a combination of factors that cause subsequent changes in effective compressibility of the formation rather than just gas compressibility. Hammelindl proposed a correction factor equivalent to the ratio of effective compressibility to gas compressibility. This is applied to the results obtained for normally pressured reservoirs.

  8. Developmental amnesia: Effect of age at injury

    Science.gov (United States)

    Vargha-Khadem, F.; Salmond, C. H.; Watkins, K. E.; Friston, K. J.; Gadian, D. G.; Mishkin, M.

    2003-01-01

    Hypoxic–ischemic events sustained within the first year of life can result in developmental amnesia, a disorder characterized by markedly impaired episodic memory and relatively preserved semantic memory, in association with medial temporal pathology that appears to be restricted to the hippocampus. Here we compared children who had hypoxic–ischemic events before 1 year of age (early group, n = 6) with others who showed memory problems after suffering hypoxic–ischemic events between the ages of 6 and 14 years (late group, n = 5). Morphometric analyses of the whole brain revealed that, compared with age-matched controls, both groups had bilateral abnormalities in the hippocampus, putamen, and posterior thalamus, as well as in the right retrosplenial cortex. The two groups also showed similar reductions (≈40%) in hippocampal volumes. Neuropsychologically, the only significant differences between the two were on a few tests of immediate memory, where the early group surpassed the late group. The latter measures provided the only clear indication that very early injury can lead to greater functional sparing than injury acquired later in childhood, due perhaps to the greater plasticity of the infant brain. On measures of long-term memory, by contrast, the two groups had highly similar profiles, both showing roughly equivalent preservation of semantic memory combined with marked impairment in episodic memory. It thus appears that, if this selective memory disorder is a special syndrome related to the early occurrence of hypoxia-induced damage, then the effective age at injury for this syndrome extends from birth to puberty. PMID:12904585

  9. Computed tomography in abnormalities of the hip

    Energy Technology Data Exchange (ETDEWEB)

    Visser, J.D.; Jonkers, A.; Klasen, H.J. (Rijksuniversiteit Groningen (Netherlands). Academisch Ziekenhuis); Hillen, B. (Rijksuniversiteit Groningen (Netherlands). Lab. voor Anatomie en Embryologie)

    1982-06-26

    The value of computed tomography in the assessment of abnormalities of the hip is demonstrated with the aid of an anatomical preparation and in patients with, respectively, congenital dislocation of a hip, dislocation of the hip in spina bifida, an acetabular fracture and a Ewing tumour. The anteversion of the acetabulum and femur and the instability index of the hip joint can be measured by means of computed tomography.

  10. Neurostructural Abnormalities in Pediatric Anxiety Disorders

    OpenAIRE

    Strawn, Jeffrey R.; Hamm, Lisa; Fitzgerald, Daniel A.; Fitzgerald, Kate D.; Monk, Christopher S.; Phan, K. Luan

    2015-01-01

    Functional neuroimaging studies have consistently demonstrated abnormalities in fear and threat processing systems in youth with anxiety disorders; however, the structural neuroanatomy of these systems in children and adolescents remains largely unknown. Using voxel-based morphometry (VBM), gray matter volumes were compared between 38 medication-free patients with anxiety disorders (generalized anxiety disorder; social phobia; separation anxiety disorder, mean age: 14.4 ± 3 years) and 27 comp...

  11. Computed tomography in abnormalities of the hip

    International Nuclear Information System (INIS)

    The value of computed tomography in the assessment of abnormalities of the hip is demonstrated with the aid of an anatomical preparation and in patients with, respectively, congenital dislocation of a hip, dislocation of the hip in spina bifida, an acetabular fracture and a Ewing tumour. The anteversion of the acetabulum and femur and the instability index of the hip join can be measured by means of computed tomography. (Auth.)

  12. OPHTHALMOLOGIC ABNORMALITIES IN CHILDREN WITH IMPAIRED HEARING

    OpenAIRE

    Inderjit; Jagdeepak; Prempal; Anup Narayanrao

    2014-01-01

    AIM: To determine the nature of ophthalmologic abnormalities in severe and profound grades of hearing impaired children and to treat visual impairment if any at the earliest . MATERIAL AND METHODS: Study was conducted on100 children in the age group of 5 - 14 years with severe and profound hearing loss visiting outpatient department of Ram Lal Eye and ENT hospital Govt. Medical College Amritsar and subjected to detailed ophthalmological examination. R...

  13. ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

  14. Congenital anorectal abnormalities in six dogs.

    Science.gov (United States)

    Prassinos, N N; Papazoglou, L G; Adamama-Moraitou, K K; Galatos, A D; Gouletsou, P; Rallis, T S

    2003-07-19

    Congenital anorectal abnormalities were diagnosed in three male and three female dogs. One dog had anal stenosis, three had a persistent anal membrane, and the other two had an imperforate anus associated with a rectovaginal fistula. Five of the dogs were treated surgically, and four of them which were followed up for periods ranging from one to five years continued to pass faeces normally. PMID:12892267

  15. Chromagen lenses and abnormal colour perception

    OpenAIRE

    O. Matthew Oriowo; Abdullah Z. Alotaibi

    2011-01-01

    Background: The Chromagen lens system comprises of tinted spectacle or contact lenses, each with a specific colour wavelength filter which controls the spectra of the light entering the eye. This study investigated whether spectacle-mounted Chromagen lenses would enhance colour perception in individuals with abnormal colour vision.Methods: The Ishihara colour test was used to test for colour vision deficiency (CVD) and also to evaluate the effect of the Chromagen spectacle lens on colour perc...

  16. Chronic daily headache: biochemical and neurotransmitter abnormalities

    OpenAIRE

    Gallai, Virgilio; Sarchielli, Paola; Genco, Sergio; Alberti, Andrea; D'Andrea, Giovanni

    2000-01-01

    Although chronic daily headache (CDH) represents one of the most relevant complaints of patients in headache centers, the mechanisms underlying the chronicization of head pain are poorly understood. Experimental animal models of chronic pain suggest the involvement of a functional disturbance of several neuronal pathways. The disturbances include an abnormal excitability of nociceptive fibers supplying pain-sensitive structures in the brain responsible for peripheral sensitization (chronic ne...

  17. Abnormal Activity Detection Using Pyroelectric Infrared Sensors

    Directory of Open Access Journals (Sweden)

    Xiaomu Luo

    2016-06-01

    Full Text Available Healthy aging is one of the most important social issues. In this paper, we propose a method for abnormal activity detection without any manual labeling of the training samples. By leveraging the Field of View (FOV modulation, the spatio-temporal characteristic of human activity is encoded into low-dimension data stream generated by the ceiling-mounted Pyroelectric Infrared (PIR sensors. The similarity between normal training samples are measured based on Kullback-Leibler (KL divergence of each pair of them. The natural clustering of normal activities is discovered through a self-tuning spectral clustering algorithm with unsupervised model selection on the eigenvectors of a modified similarity matrix. Hidden Markov Models (HMMs are employed to model each cluster of normal activities and form feature vectors. One-Class Support Vector Machines (OSVMs are used to profile the normal activities and detect abnormal activities. To validate the efficacy of our method, we conducted experiments in real indoor environments. The encouraging results show that our method is able to detect abnormal activities given only the normal training samples, which aims to avoid the laborious and inconsistent data labeling process.

  18. Autism and chromosome abnormalities-A review.

    Science.gov (United States)

    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

  19. Schizophrenia, abnormal connection, and brain evolution.

    Science.gov (United States)

    Randall, P L

    1983-03-01

    Abnormalities of functional connection between specialized areas in the human brain may underlie the symptoms which constitute the schizophrenia syndrome. Callosal and intrahemispheric fibres may be equally involved. The clinical emergence of symptoms in the later stages of brain maturation may be dependent on myelination of these fibre groups, both of which have extended myelination cycles. Ontogenetically earlier variants of the same mechanism could theoretically result in dyslexia and the syndromes of Kanner and Gilles de la Tourette. As new and unique extensions of specialized function emerge within the evolving brain, biological trial and error of connection both within and between them may produce individuals possessing phylogenetically advanced abilities, or equally, others possessing a wide range of abnormalities including those which comprise the schizophrenia syndrome. A dormant phenotypic potential for schizophrenia may exist in individuals who never develop symptoms during the course of a lifetime though some of these may become clinically apparent under the influence of various precipitating factors. It is concluded that abnormal functional connection and its normal and "supernormal" counterparts may be natural, essential, and inevitable consequences of brain evolution, and that this may have been so throughout the history of vertebrate brain evolution.

  20. Developmental Dynamics of Rett Syndrome

    Directory of Open Access Journals (Sweden)

    Danielle Feldman

    2016-01-01

    Full Text Available Rett Syndrome was long considered to be simply a disorder of postnatal development, with phenotypes that manifest only late in development and into adulthood. A variety of recent evidence demonstrates that the phenotypes of Rett Syndrome are present at the earliest stages of brain development, including developmental stages that define neurogenesis, migration, and patterning in addition to stages of synaptic and circuit development and plasticity. These phenotypes arise from the pleotropic effects of MeCP2, which is expressed very early in neuronal progenitors and continues to be expressed into adulthood. The effects of MeCP2 are mediated by diverse signaling, transcriptional, and epigenetic mechanisms. Attempts to reverse the effects of Rett Syndrome need to take into account the developmental dynamics and temporal impact of MeCP2 loss.

  1. Abnormalities Occurring during Female Gametophyte Development Result in the Diversity of Abnormal Embryo Sacs and Leads to Abnormal Fertilization in indicaljaponica Hybrids in Rice

    Institute of Scientific and Technical Information of China (English)

    Yu-Xiang Zeng; Chao-Yue Hu; Yong-Gen Lu; Jin-Quan Li; Xiang-Dong Liu

    2009-01-01

    Embryo sac abortion is one of the major masons for sterility in indicaljaponica hybrids In rice. To clarify the causal mechanism of embryo sac abortion, we studied the female gametophyte development in two indicaljaponica hybrids via an eosin B staining procedure for embryo sac scanning using confocal laser scanning microscope. Different types of abnormalities occurred during megasporogenesis and megagamatogenesis were demonstrated. The earliest abnormality was observed in the megasporocyte. A lot of the chalazal-most megaspores were degenerated before the mono-nucleate embryo sac stage. Disordered positioning of nucleus and abnormal nucallus tissue were characteristics of the abnormal female gametes from the mono-nucleate to four-nucleate embryo sac stages. The abnormalities that occurred from the early stage of the eight-nucleate embryo sac development to the mature embryo sac stage were characterized by smaller sizes and wrinkled antipodals. Asynchronous nuclear migration, abnormal positioning of nucleus, and degeneration of egg apparatus were also found at the eight-nucleate embryo sac stage. The abnormalities that occurred during female gametophyte development resulted in five major types of abnormal embryo sacs. These abnormal embryo sacs led to abnormal fertilization. Hand pollination using normal pollens on the spikelets during anthesis showed that normal pollens could not exclude the effect of abnormal embryo sac on seed setting.

  2. DEVELOPMENTAL COORDINATION DISORDER IN CHILDREN

    OpenAIRE

    Saeideh MIRAFKHAMI; Seyyed Hossein FAKHRAEE; Sina MIRAFKHAMI; Mojtaba YOUSEFI; Mona VARZANDEH FAR

    2010-01-01

    ObjectiveIn this article, a motor skill disorder called developmental coordination disorder (DCD), that is usually first diagnosed during childhood, is explained and discussed. In the year 1987, DCD was formally recognized as a distinct disorder in children by the American Psychiatric Association  (APA). DCD is a generalized term for the children who have some degrees of impairment in the development of motor coordination and therefore have difficulties with physical skills which significantl...

  3. Developmental Dynamics of Rett Syndrome

    OpenAIRE

    Danielle Feldman; Abhishek Banerjee; Mriganka Sur

    2016-01-01

    Rett Syndrome was long considered to be simply a disorder of postnatal development, with phenotypes that manifest only late in development and into adulthood. A variety of recent evidence demonstrates that the phenotypes of Rett Syndrome are present at the earliest stages of brain development, including developmental stages that define neurogenesis, migration, and patterning in addition to stages of synaptic and circuit development and plasticity. These phenotypes arise from the pleotropic ef...

  4. Developmental trends in adaptive memory

    OpenAIRE

    Otgaar, H.; Howe, M. L.; Smeets, T; Garner, S. R.

    2014-01-01

    Recent studies have revealed that memory is enhanced when information is processed for fitness-related purposes. The main objective of the current experiments was to test developmental trends in the evolutionary foundation of memory using different types of stimuli and paradigms. In Experiment 1, 11-year-olds and adults were presented with neutral, negative, and survival-related DRM word lists. We found a memory benefit for the survival-related words and showed that false memories were more l...

  5. Developmental genetics in primitive chordates.

    OpenAIRE

    P. SORDINO; L. Belluzzi; De Santis, R; Smith, W.C.

    2001-01-01

    Recent advances in the study of the genetics and genomics of urochordates testify to a renewed interest in this chordate subphylum, believed to be the most primitive extant chordate relatives of the vertebrates. In addition to their primitive nature, many features of their reproduction and early development make the urochordates ideal model chordates for developmental genetics. Many urochordates spawn large numbers of transparent and externally developing embryos on a daily basis. Additionall...

  6. Psychology is a Developmental Science

    OpenAIRE

    Greenberg, Gary; Partridge, Ty; Mosack, Victoria; Lambdin, Charles

    2006-01-01

    In this paper we argue that psychology should be understood as a developmental science, and we place the discipline squarely in the realm of the natural sciences. The case is made that scientific progress in psychology has been (and still is) impeded by prolonged misadventures down conceptual dead ends such as biological reductionism, the nature/nurture debate, evolutionary psychology, and the persistent insistence on emphasizing dependent variables that defy observation and measurement, such...

  7. Phonemic restoration in developmental dyslexia

    OpenAIRE

    Del Tufo, Stephanie N.; Myers, Emily B.

    2014-01-01

    The comprehension of fluent speech in one's native language requires that listeners integrate the detailed acoustic-phonetic information available in the sound signal with linguistic knowledge. This interplay is especially apparent in the phoneme restoration effect, a phenomenon in which a missing phoneme is “restored” via the influence of top-down information from the lexicon and through bottom-up acoustic processing. Developmental dyslexia is a disorder characterized by an inability to read...

  8. Phonemic restoration in developmental dyslexia

    OpenAIRE

    Del Tufo, Stephanie N.; Myers, Emily B.

    2014-01-01

    The comprehension of fluent speech in one’s native language requires that listeners integrate the detailed acoustic-phonetic information available in the sound signal with linguistic knowledge. This interplay is especially apparent in the phoneme restoration effect, a phenomenon in which a missing phoneme is ‘restored’ via the influence of top-down information from the lexicon and through bottom-up acoustic processing. Developmental dyslexia is a disorder characterized by an inability to read...

  9. Statistical distribution of blood serotonin as a predictor of early autistic brain abnormalities

    Directory of Open Access Journals (Sweden)

    Janušonis Skirmantas

    2005-07-01

    Full Text Available Abstract Background A wide range of abnormalities has been reported in autistic brains, but these abnormalities may be the result of an earlier underlying developmental alteration that may no longer be evident by the time autism is diagnosed. The most consistent biological finding in autistic individuals has been their statistically elevated levels of 5-hydroxytryptamine (5-HT, serotonin in blood platelets (platelet hyperserotonemia. The early developmental alteration of the autistic brain and the autistic platelet hyperserotonemia may be caused by the same biological factor expressed in the brain and outside the brain, respectively. Unlike the brain, blood platelets are short-lived and continue to be produced throughout the life span, suggesting that this factor may continue to operate outside the brain years after the brain is formed. The statistical distributions of the platelet 5-HT levels in normal and autistic groups have characteristic features and may contain information about the nature of this yet unidentified factor. Results The identity of this factor was studied by using a novel, quantitative approach that was applied to published distributions of the platelet 5-HT levels in normal and autistic groups. It was shown that the published data are consistent with the hypothesis that a factor that interferes with brain development in autism may also regulate the release of 5-HT from gut enterochromaffin cells. Numerical analysis revealed that this factor may be non-functional in autistic individuals. Conclusion At least some biological factors, the abnormal function of which leads to the development of the autistic brain, may regulate the release of 5-HT from the gut years after birth. If the present model is correct, it will allow future efforts to be focused on a limited number of gene candidates, some of which have not been suspected to be involved in autism (such as the 5-HT4 receptor gene based on currently available clinical and

  10. Perceived functional impact of abnormal facial appearance.

    Science.gov (United States)

    Rankin, Marlene; Borah, Gregory L

    2003-06-01

    Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial

  11. Developmental transcriptome of Aplysia californica'

    KAUST Repository

    Heyland, Andreas

    2010-12-06

    Genome-wide transcriptional changes in development provide important insight into mechanisms underlying growth, differentiation, and patterning. However, such large-scale developmental studies have been limited to a few representatives of Ecdysozoans and Chordates. Here, we characterize transcriptomes of embryonic, larval, and metamorphic development in the marine mollusc Aplysia californica and reveal novel molecular components associated with life history transitions. Specifically, we identify more than 20 signal peptides, putative hormones, and transcription factors in association with early development and metamorphic stages-many of which seem to be evolutionarily conserved elements of signal transduction pathways. We also characterize genes related to biomineralization-a critical process of molluscan development. In summary, our experiment provides the first large-scale survey of gene expression in mollusc development, and complements previous studies on the regulatory mechanisms underlying body plan patterning and the formation of larval and juvenile structures. This study serves as a resource for further functional annotation of transcripts and genes in Aplysia, specifically and molluscs in general. A comparison of the Aplysia developmental transcriptome with similar studies in the zebra fish Danio rerio, the fruit fly Drosophila melanogaster, the nematode Caenorhabditis elegans, and other studies on molluscs suggests an overall highly divergent pattern of gene regulatory mechanisms that are likely a consequence of the different developmental modes of these organisms. © 2010 Wiley-Liss, Inc., A Wiley Company.

  12. Developmental facial paralysis: a review.

    Science.gov (United States)

    Terzis, Julia K; Anesti, Katerina

    2011-10-01

    The purpose of this study is to clarify the confusing nomenclature and pathogenesis of Developmental Facial Paralysis, and how it can be differentiated from other causes of facial paralysis present at birth. Differentiating developmental from traumatic facial paralysis noted at birth is important for determining prognosis, but also for medicolegal reasons. Given the dramatic presentation of this condition, accurate and reliable guidelines are necessary in order to facilitate early diagnosis and initiate appropriate therapy, while providing support and counselling to the family. The 30 years experience of our center in the management of developmental facial paralysis is dependent upon a thorough understanding of facial nerve embryology, anatomy, nerve physiology, and an appreciation of well-recognized mishaps during fetal development. It is hoped that a better understanding of this condition will in the future lead to early targeted screening, accurate diagnosis and prompt treatment in this population of facially disfigured patients, which will facilitate their emotional and social rehabilitation, and their reintegration among their peers.

  13. Electrophysiological evidence for abnormal preparatory states and inhibitory processing in adult ADHD

    Directory of Open Access Journals (Sweden)

    Brandeis Daniel

    2010-10-01

    Full Text Available Abstract Background Attention deficit hyperactivity disorder (ADHD is a common neurodevelopmental disorder that starts in childhood and frequently persists in adults. Several theories postulate deficits in ADHD that have effects across many executive functions or in more narrowly defined aspects, such as response inhibition. Electrophysiological studies on children, however, indicate that ADHD is not associated with a core deficit of response inhibition, as abnormal inhibitory processing is typically preceded or accompanied by other processing deficits. It is not yet known if this pattern of abnormal processing is evident in adult ADHD. Methods The objective of this paper was to investigate event-related potential indices of preparatory states and subsequent response inhibition processing in adults with ADHD. Two cued continuous performance tasks were presented to 21 adults meeting current criteria for adult ADHD and combined type ADHD in childhood, and 20 controls. Results The ADHD group exhibited significantly weaker orienting attention to cues, cognitive preparation processes and inhibitory processing. In addition, we observed a strong correlation between the resources allocated to orienting to cues and the strength of the subsequent response strength control processes, suggesting that orienting deficits partly predict and determine response control deficits in ADHD. Conclusions These findings closely resemble those previously found in children with ADHD, which indicate that there is not a core response inhibition deficit in ADHD. These findings therefore suggest the possibility of developmental stability into adulthood of the underlying abnormal processes in ADHD.

  14. Disruption of Ah Receptor Signaling during Mouse Development Leads to Abnormal Cardiac Structure and Function in the Adult.

    Directory of Open Access Journals (Sweden)

    Vinicius S Carreira

    Full Text Available The Developmental Origins of Health and Disease (DOHaD Theory proposes that the environment encountered during fetal life and infancy permanently shapes tissue physiology and homeostasis such that damage resulting from maternal stress, poor nutrition or exposure to environmental agents may be at the heart of adult onset disease. Interference with endogenous developmental functions of the aryl hydrocarbon receptor (AHR, either by gene ablation or by exposure in utero to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD, a potent AHR ligand, causes structural, molecular and functional cardiac abnormalities and altered heart physiology in mouse embryos. To test if embryonic effects progress into an adult phenotype, we investigated whether Ahr ablation or TCDD exposure in utero resulted in cardiac abnormalities in adult mice long after removal of the agent. Ten-months old adult Ahr-/- and in utero TCDD-exposed Ahr+/+ mice showed sexually dimorphic abnormal cardiovascular phenotypes characterized by echocardiographic findings of hypertrophy, ventricular dilation and increased heart weight, resting heart rate and systolic and mean blood pressure, and decreased exercise tolerance. Underlying these effects, genes in signaling networks related to cardiac hypertrophy and mitochondrial function were differentially expressed. Cardiac dysfunction in mouse embryos resulting from AHR signaling disruption seems to progress into abnormal cardiac structure and function that predispose adults to cardiac disease, but while embryonic dysfunction is equally robust in males and females, the adult abnormalities are more prevalent in females, with the highest severity in Ahr-/- females. The findings reported here underscore the conclusion that AHR signaling in the developing heart is one potential target of environmental factors associated with cardiovascular disease.

  15. Disorders of childhood growth and development: screening and evaluation of the child who misses developmental milestones.

    Science.gov (United States)

    Grissom, Maureen

    2013-07-01

    The family physician is one of the few individuals from whom families receive feedback about their children's development; this makes early identification of potential delays an important responsibility. The American Academy of Pediatrics recommends formal developmental screening for all children at the 9-, 18-, and 24- and/or 30-month well-child visits as well as developmental surveillance at every office visit through age 5 years. A formal screening measure is recommended, taking into account administration time and cost, characteristics of the patient population (eg, availability of screening tool in numerous languages), and psychometrics (eg, reliability, sensitivity, specificity). In the case of abnormal screening results, family physicians must determine the need for further medical evaluation (eg, by a developmental pediatric subspecialist or a pediatric neurology, genetics, or physiatry subspecialist) and/or further developmental evaluation (eg, by a physical therapy [PT], occupational therapy [OT], speech/language pathology, psychology, or audiology subspecialist). Knowledge of early intervention and early childhood programs is necessary for directing parents to evaluation and treatment sources. In treating patients with developmental delays, family physicians must possess knowledge regarding traditional modalities (eg, speech/language therapy, OT, PT) as well as newer treatments with less research support (eg, gluten-free/casein-free diet, hyperbaric oxygen therapy, neurodevelopmental treatment) that families may consider.

  16. Predicting human developmental toxicity of pharmaceuticals using human embryonic stem cells and metabolomics

    International Nuclear Information System (INIS)

    Teratogens, substances that may cause fetal abnormalities during development, are responsible for a significant number of birth defects. Animal models used to predict teratogenicity often do not faithfully correlate to human response. Here, we seek to develop a more predictive developmental toxicity model based on an in vitro method that utilizes both human embryonic stem (hES) cells and metabolomics to discover biomarkers of developmental toxicity. We developed a method where hES cells were dosed with several drugs of known teratogenicity then LC-MS analysis was performed to measure changes in abundance levels of small molecules in response to drug dosing. Statistical analysis was employed to select for specific mass features that can provide a prediction of the developmental toxicity of a substance. These molecules can serve as biomarkers of developmental toxicity, leading to better prediction of teratogenicity. In particular, our work shows a correlation between teratogenicity and changes of greater than 10% in the ratio of arginine to asymmetric dimethylarginine levels. In addition, this study resulted in the establishment of a predictive model based on the most informative mass features. This model was subsequently tested for its predictive accuracy in two blinded studies using eight drugs of known teratogenicity, where it correctly predicted the teratogenicity for seven of the eight drugs. Thus, our initial data shows that this platform is a robust alternative to animal and other in vitro models for the prediction of the developmental toxicity of chemicals that may also provide invaluable information about the underlying biochemical pathways.

  17. Deafferentation-Induced Plasticity of Visual Callosal Connections: Predicting Critical Periods and Analyzing Cortical Abnormalities Using Diffusion Tensor Imaging

    Directory of Open Access Journals (Sweden)

    Jaime F. Olavarria

    2012-01-01

    Full Text Available Callosal connections form elaborate patterns that bear close association with striate and extrastriate visual areas. Although it is known that retinal input is required for normal callosal development, there is little information regarding the period during which the retina is critically needed and whether this period correlates with the same developmental stage across species. Here we review the timing of this critical period, identified in rodents and ferrets by the effects that timed enucleations have on mature callosal connections, and compare it to other developmental milestones in these species. Subsequently, we compare these events to diffusion tensor imaging (DTI measurements of water diffusion anisotropy within developing cerebral cortex. We observed that the relationship between the timing of the critical period and the DTI-characterized developmental trajectory is strikingly similar in rodents and ferrets, which opens the possibility of using cortical DTI trajectories for predicting the critical period in species, such as humans, in which this period likely occurs prenatally. Last, we discuss the potential of utilizing DTI to distinguish normal from abnormal cerebral cortical development, both within the context of aberrant connectivity induced by early retinal deafferentation, and more generally as a potential tool for detecting abnormalities associated with neurodevelopmental disorders.

  18. The Relationship between Cell Number, Division Behavior and Developmental Potential of Cleavage Stage Human Embryos: A Time-Lapse Study.

    Science.gov (United States)

    Kong, Xiangyi; Yang, Shuting; Gong, Fei; Lu, Changfu; Zhang, Shuoping; Lu, Guangxiu; Lin, Ge

    2016-01-01

    Day 3 cleavage embryo transfer is routine in many assisted reproductive technology centers today. Embryos are usually selected according to cell number, cell symmetry and fragmentation for transfer. Many studies have showed the relationship between cell number and embryo developmental potential. However, there is limited understanding of embryo division behavior and their association with embryo cell number and developmental potential. A retrospective and observational study was conducted to investigate how different division behaviors affect cell number and developmental potential of day 3 embryos by time-lapse imaging. Based on cell number at day 3, the embryos (from 104 IVF/intracytoplasmic sperm injection (ICSI) treatment cycles, n = 799) were classified as follows: less than 5 cells (10C; n = 42). Division behavior, morphokinetic parameters and blastocyst formation rate were analyzed in 5 groups of day 3 embryos with different cell numbers. In 10C embryos increased compared to 7-8C embryos (45.8%, 33.3% vs. 11.1%, respectively). In ≥5C embryos, FR and DC significantly reduced developmental potential, whereas division behaviors. In NB embryos, the blastocyst formation rate increased with cell number from 7.4% (10C). In NB embryos, the cell cycle elongation or shortening was the main cause for abnormally low or high cell number, respectively. After excluding embryos with abnormal division behaviors, the developmental potential, implantation rate and live birth rate of day 3 embryos increased with cell number.

  19. Heterotaxia syndrome: the role of screening for intestinal rotation abnormalities

    OpenAIRE

    Choi, M.; Borenstein, S.; Hornberger, L; Langer, J.

    2005-01-01

    Background: Heterotaxia syndrome involves multiple anomalies, including cardiac malformations and intestinal rotation abnormalities. Most authors recommend routine radiological evaluation, with laparotomy and Ladd procedure if a rotation abnormality is found.

  20. Fetal MR Imaging of Gastrointestinal Abnormalities.

    Science.gov (United States)

    Furey, Elizabeth A; Bailey, April A; Twickler, Diane M

    2016-01-01

    Fetal magnetic resonance (MR) imaging plays an increasing and valuable role in antenatal diagnosis and perinatal management of fetal gastrointestinal (GI) abnormalities. Advances in MR imaging data acquisition and use of motion-insensitive techniques have established MR imaging as an important adjunct to obstetric ultrasonography (US) for fetal diagnosis. In this regard, MR imaging provides high diagnostic accuracy for antenatal diagnosis of common and uncommon GI pathologic conditions. In the setting of fetal GI disease, T1-weighted images demonstrate the amount and distribution of meconium, which is crucial to the diagnostic capability of fetal MR imaging. Specifically, knowledge of the T1 signal intensity characteristics of fetal meconium, the normal pattern of meconium with advancing gestational age, and the expected caliber of small and large bowel in the fetus is key to diagnosis of abnormalities of the GI tract. Use of ultrafast T2-weighted sequences for evaluation of the expected location and morphology of fluid-containing structures, including the stomach and small bowel, in the fetal abdomen further aids in diagnostic confidence. Uncommonly encountered fetal GI pathologic conditions, especially cloacal dysmorphology, may demonstrate characteristic MR imaging patterns, which may add additional information to that from fetal US, allowing improved fetal and neonatal management. This article discusses common indications for fetal MR imaging of the GI tract, imaging protocols for fetal GI MR imaging, the normal appearance of the fetal GI tract with advancing gestational age, and the imaging appearances of common fetal GI abnormalities, as well as uncommon fetal GI conditions with characteristic appearances. (©)RSNA, 2016. PMID:27163598

  1. Radiological and orthopedic abnormalities in Satoyoshi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Haymon, M.L. [Children`s Hospital, New Orleans, LA (United States). Dept. of Radiology; Willis, R.B. [Children`s Hospital, New Orleans, LA (United States). Dept. of Orthopedics; Ehlayel, M.S. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics; Lacassie, Y. [Div. of Genetics, Dept. of Pediatrics, Louisiana State Univ. Medical Center, Orleans, LA (United States)]|[Louisiana State Medical Center, New Orleans, LA (United States). Center for Molecular and Human Genetics]|[Children`s Hospital, New Orleans, LA (United States). Dept. of Pediatrics

    1997-05-01

    Satoyoshi syndrome is a are disorder on unknown etiology characterized by progressive, painful intermittent muscle spasms, serve skeletal abnormalities mimicking a skeletal dyplasia, malabsorption, alopecia, and amenorrhea. We further report on a 20{sup 1}/{sub 2}-year-old Caucasian woman whith characteristic manifestation of the syndrome. Since the establishment of the diagnostic 1 year ago, she has been treated with prednisone with good response. However, treatment of the multiple deformities and fractures has been difficult and challenging. The early recognition and treatment of this disorder is of utmost importance, as the skeletal deformities and fractures seem to be secondary to the muscular spasms, as suggested by Satoyoshi.

  2. Vitamin D and Risk of Neuroimaging Abnormalities.

    Directory of Open Access Journals (Sweden)

    Thomas J Littlejohns

    Full Text Available Vitamin D deficiency has been linked with an increased risk of incident all-cause dementia and Alzheimer's disease. The aim of the current study was to explore the potential mechanisms underlying these associations by determining whether low vitamin D concentrations are associated with the development of incident cerebrovascular and neurodegenerative neuroimaging abnormalities. The population consisted of 1,658 participants aged ≥65 years from the US-based Cardiovascular Health Study who were free from prevalent cardiovascular disease, stroke and dementia at baseline in 1992-93. Serum 25-hydroxyvitamin D (25(OHD concentrations were determined by liquid chromatography-tandem mass spectrometry from blood samples collected at baseline. The first MRI scan was conducted between 1991-1994 and the second MRI scan was conducted between 1997-1999. Change in white matter grade, ventricular grade and presence of infarcts between MRI scan one and two were used to define neuroimaging abnormalities. During a mean follow-up of 5.0 years, serum 25(OHD status was not significantly associated with the development of any neuroimaging abnormalities. Using logistic regression models, the multivariate adjusted odds ratios (95% confidence interval for worsening white matter grade in participants who were severely 25(OHD deficient (<25 nmol/L and deficient (≥25-50 nmol/L were 0.76 (0.35-1.66 and 1.09 (0.76-1.55 compared to participants with sufficient concentrations (≥50 nmol/L. The multivariate adjusted odds ratios for ventricular grade in participants who were severely 25(OHD deficient and deficient were 0.49 (0.20-1.19 and 1.12 (0.79-1.59 compared to those sufficient. The multivariate adjusted odds ratios for incident infarcts in participants who were severely 25(OHD deficient and deficient were 1.95 (0.84-4.54 and 0.73 (0.47-1.95 compared to those sufficient. Overall, serum vitamin D concentrations could not be shown to be associated with the development of

  3. TRANSIENT ABNORMAL MYELOPOIESIS IN A NEONATE

    Directory of Open Access Journals (Sweden)

    Ketan P

    2013-01-01

    Full Text Available ABSTRACT: Transient abnormal myelopoiesis (TAM is a unique di sorder of newborns associated intimately with Down’s syndrome, present ing with clinical and morphological features indistinguishable from acute myeloid leuka emia (AML. We report a case in a neonate, presenting with severe perinatal asphyxia and cyanosis ; complicated by metabolic acidosis. The hemogram revealed leucocytosis and thrombocytopenia. The peripheral smear showed marked left shift and 55% circulating myeloblasts. Additio nal findings included a hepatomegaly and mild dysmorphic features. The child eventually succu mbed to pulmonary hemorrhage on day one itself. TAM has to be differentiated from conge nital leukemia which portends a poor prognosis

  4. Developmental trajectories in cognitive-behavioral phenotypes: Introduction.

    Science.gov (United States)

    Fisch, Gene S

    2015-06-01

    Developmental trajectories in behavioral phenotypes are important areas for systematic research and have been for more than 30 years. They interweave several important strands related to human growth: that of individuals born with some form of intellectual impairment or disability (ID); second, the genetics associated with intellectual ability and disability; and third, at the behavioral level, the dynamic expression and variability of specific abnormalities as individuals age. ID, and the genetic disorders that produce ID, were often not well-received by earlier societies. While the inheritance of behavior and intellectual ability has probably been observed throughout human history, the systematic investigation of the inheritance of intellectual ability probably begins with Sir Francis Galton, in his treatise Hereditary Genius in 1869. The dynamic features of ID have its roots in late 19th century developmental psychology and early 20th century pediatrics. Alfred Binet, along with his colleague Theodore Simon, created the first methods of formal intelligence testing of children for the French school system. Scores based on the items administered would then be used to distinguish children who were prepared for enrollment in a standard educational program from those who were not. The confluence of these research topics brings us to the subject of our Special Issue. PMID:25959524

  5. The Spacing Principle for Unlearning Abnormal Neuronal Synchrony

    OpenAIRE

    Popovych, Oleksandr V.; Markos N Xenakis; Peter A. Tass

    2015-01-01

    Desynchronizing stimulation techniques were developed to specifically counteract abnormal neuronal synchronization relevant to several neurological and psychiatric disorders. The goal of our approach is to achieve an anti-kindling, where the affected neural networks unlearn abnormal synaptic connectivity and, hence, abnormal neuronal synchrony, by means of desynchronizing stimulation, in particular, Coordinated Reset (CR) stimulation. As known from neuroscience, psychology and education, lear...

  6. Abnormal immune parameters in HIV-seronegative haemophilic patients

    NARCIS (Netherlands)

    Allersma, DP; Smid, WM; Briet, E

    1996-01-01

    In HIV-seronegative haemophiliac patients abnormal immune parameters have been demonstrated. In this review data on these abnormalities, their aetiology and clinical consequences are summarized and discussed. The data reviewed show abnormalities at different levels of the adaptive immune system. Mos

  7. Abnormal Behavior in Relation to Cage Size in Rhesus Monkeys

    Science.gov (United States)

    Paulk, H. H.; And Others

    1977-01-01

    Examines the effects of cage size on stereotyped and normal locomotion and on other abnormal behaviors in singly caged animals, whether observed abnormal behaviors tend to co-occur, and if the development of an abnormal behavior repertoire leads to reduction in the number of normal behavior categories. (Author/RK)

  8. Developmental modes and developmental mechanisms can channel brain evolution

    Directory of Open Access Journals (Sweden)

    Christine J Charvet

    2011-02-01

    Full Text Available Anseriform birds (ducks and geese as well as parrots and songbirds have evolved a disproportionately enlarged telencephalon compared with many other birds. However, parrots and songbirds differ from anseriform birds in their mode of development. Whereas ducks and geese are precocial (e.g., hatchlings feed on their own, parrots and songbirds are altricial (e.g., hatchlings are fed by their parents. We here consider how developmental modes may limit and facilitate specific changes in the mechanisms of brain development. We suggest that altriciality facilitates the evolution of telencephalic expansion by delaying telencephalic neurogenesis. We further hypothesize that delays in telencephalic neurogenesis generate delays in telencephalic maturation, which in turn foster neural adaptations that facilitate learning. Specifically, we propose that delaying telencephalic neurogenesis was a prerequisite for the evolution of neural circuits that allow parrots and songbirds to produce learned vocalizations. Overall, we argue that developmental modes have influenced how some lineages of birds increased the size of their telencephalon and that this, in turn, has influenced subsequent changes in brain circuits and behavior.

  9. Developmental Modes and Developmental Mechanisms can Channel Brain Evolution.

    Science.gov (United States)

    Charvet, Christine J; Striedter, Georg F

    2011-01-01

    Anseriform birds (ducks and geese) as well as parrots and songbirds have evolved a disproportionately enlarged telencephalon compared with many other birds. However, parrots and songbirds differ from anseriform birds in their mode of development. Whereas ducks and geese are precocial (e.g., hatchlings feed on their own), parrots and songbirds are altricial (e.g., hatchlings are fed by their parents). We here consider how developmental modes may limit and facilitate specific changes in the mechanisms of brain development. We suggest that altriciality facilitates the evolution of telencephalic expansion by delaying telencephalic neurogenesis. We further hypothesize that delays in telencephalic neurogenesis generate delays in telencephalic maturation, which in turn foster neural adaptations that facilitate learning. Specifically, we propose that delaying telencephalic neurogenesis was a prerequisite for the evolution of neural circuits that allow parrots and songbirds to produce learned vocalizations. Overall, we argue that developmental modes have influenced how some lineages of birds increased the size of their telencephalon and that this, in turn, has influenced subsequent changes in brain circuits and behavior.

  10. Anesthetic-Induced Developmental Neurotoxicity

    Institute of Scientific and Technical Information of China (English)

    Jia-RenLiu; Qian Liu; Jing Li; Sulpicio G. Soriano

    2011-01-01

    1 IntroductionMillions of newborn and infants receive anesthetic,sedative and analgesic drugs for surgery and painful procedures on a daily basis.Recent laboratory reports clearly demonstrate that anesthetic and sedative drugs induced both neuroapoptosis and neurocognitive deficits in laboratory models.This issue is of paramount interest to pediatric anesthesiologists and intensivists because it questions the safety of anesthetics used for fetal and neonatal anesthesia[1-2].In an attempt to summarize the rapidly expanding laboratorybased literature on anesthetic-induced developmental neurotoxicity (AIDN),this review will examine published reports on the characterization,mechanisms and alleviation of this phenomenon.

  11. Music cognition: a developmental perspective.

    Science.gov (United States)

    Stalinski, Stephanie M; Schellenberg, E Glenn

    2012-10-01

    Although music is universal, there is a great deal of cultural variability in music structures. Nevertheless, some aspects of music processing generalize across cultures, whereas others rely heavily on the listening environment. Here, we discuss the development of musical knowledge, focusing on four themes: (a) capabilities that are present early in development; (b) culture-general and culture-specific aspects of pitch and rhythm processing; (c) age-related changes in pitch perception; and (d) developmental changes in how listeners perceive emotion in music. PMID:22811391

  12. Abnormal mandibular growth and the condylar cartilage.

    Science.gov (United States)

    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. Genetic abnormalities associated with acute lymphoblastic leukemia.

    Science.gov (United States)

    Yokota, Takafumi; Kanakura, Yuzuru

    2016-06-01

    Acute lymphoblastic leukemia (ALL) occurs with high frequency in childhood and is associated with high mortality in adults. Recent technical advances in next-generation sequencing have shed light on genetic abnormalities in hematopoietic stem/progenitor cells as the precursor to ALL pathogenesis. Based on these genetic abnormalities, ALL is now being reclassified into newly identified subtypes. Philadelphia chromosome-like B-lineage ALL is one of the new high-risk subtypes characterized by genetic alterations that activate various signaling pathways, including those involving cytokine receptors, tyrosine kinases, and epigenetic modifiers. Philadelphia chromosome-like ALL is essentially heterogeneous; however, deletion mutations in the IKZF1 gene encoding the transcription factor IKAROS underlie many cases as a key factor inducing aggressive phenotypes and poor treatment responses. Whole-genome sequencing studies of ALL patients and ethnically matched controls also identified inherited genetic variations in lymphoid neoplasm-related genes, which are likely to increase ALL susceptibility. These findings are directly relevant to clinical hematology, and further studies on this aspect could contribute to accurate diagnosis, effective monitoring of residual disease, and patient-oriented therapies. PMID:26991355

  14. Small Airway Dysfunction and Abnormal Exercise Responses

    Science.gov (United States)

    Petsonk, Edward L.; Stansbury, Robert C.; Beeckman-Wagner, Lu-Ann; Long, Joshua L.; Wang, Mei Lin

    2016-01-01

    Rationale Coal mine dust exposure can cause symptoms and loss of lung function from multiple mechanisms, but the roles of each disease process are not fully understood. Objectives We investigated the implications of small airway dysfunction for exercise physiology among a group of workers exposed to coal mine dust. Methods Twenty coal miners performed spirometry, first breathing air and then helium-oxygen, single-breath diffusing capacity, and computerized chest tomography, and then completed cardiopulmonary exercise testing. Measurements and Main Results Six participants meeting criteria for small airway dysfunction were compared with 14 coal miners who did not. At submaximal workload, miners with small airway dysfunction used a higher proportion of their maximum voluntary ventilation and had higher ventilatory equivalents for both O2 and CO2. Regression modeling indicated that inefficient ventilation was significantly related to small airway dysfunction but not to FEV1 or diffusing capacity. At the end of exercise, miners with small airway dysfunction had 27% lower O2 consumption. Conclusions Small airway abnormalities may be associated with important inefficiency of exercise ventilation. In dust-exposed individuals with only mild abnormalities on resting lung function tests or chest radiographs, cardiopulmonary exercise testing may be important in defining causes of exercise intolerance. PMID:27073987

  15. First trimester ultrasound screening of chromosomal abnormalities

    Directory of Open Access Journals (Sweden)

    Trninić-Pjević Aleksandra

    2007-01-01

    Full Text Available Introduction: A retrocervical subcutaneous collection of fluid at 11-14 weeks of gestation, can be visualized by ultrasound as nuchal translucency (NT. Objective. To examine the distribution of fetal nuchal translucency in low risk population, to determine the detection rate of chromosomal abnormalities in the population of interest based on maternal age and NT measurement. Method. Screening for chromosomal defects, advocated by The Fetal Medicine Foundation (FMF, was performed in 1,341 pregnancies in the period January 2000 - April 2004. Initial risk for chromosomal defects (based on maternal and gestational age and corrected risk, after the NT measurement, were calculated. Complete data were collected from 1,048 patients. Results. Out of 1,048 pregnancies followed, 8 cases of Down’s syndrome were observed, 7 were detected antenatally and 6 out of 7 were detected due to screening that combines maternal age and NT measurement. According to our results, sensitivity of the screening for aneuploidies based on maternal age alone was 12.5% and false positive rate 13.1%, showing that screening based on NT measurement is of great importance. Screening by a combination of maternal age and NT, and selecting a screening-positive group for invasive testing enabled detection of 75% of fetuses with trisomy 21. Conclusion. In screening for chromosomal abnormalities, an approach which combines maternal age and NT is effective and increases the detection rate compared to the use of any single test. .

  16. MR evaluation of visceroatrial situs abnormality

    International Nuclear Information System (INIS)

    Thirteen patients with visceroatrial situs abnormalities were evaluated by magnetic resonance (MR) imaging. Eleven patients were confirmed surgically. Two patients were diagnosed by MRI and cardiac catheterization. Right isomerism was found in seven patients, left isomerism in two, and situs in versus in four. For the determination of situs, we evaluated the morphology of atrial appendages and main bronchi, the relationship between abdominal aorta and inferior vena cava (lVC), and the status of upper abdominal viscera. The bilateral atrial morphology was differentiated in 8 of 12 patients. The bronchial situs was determined in 11 of 12 patients. Juxtaposition of abdominal aorta and IVC was found in 6 of 7 with right isomerism. lVC interruption with azygos continuation was found in all two with left isomerism. Incidentally three cases of short pancreas were found. MR imaging showed all structures relevant for the assessment of situs, thus obvrating the need for performing additional diagnostic procedures. MR imaging, therefore, is a valuable tool in the clinical management of patients who are suspected of having a situs abnormality

  17. Functional neuroimaging abnormalities in idiopathic generalized epilepsy

    Directory of Open Access Journals (Sweden)

    Megan L. McGill

    2014-01-01

    Full Text Available Magnetic resonance imaging (MRI techniques have been used to quantitatively assess focal and network abnormalities. Idiopathic generalized epilepsy (IGE is characterized by bilateral synchronous spike–wave discharges on electroencephalography (EEG but normal clinical MRI. Dysfunctions involving the neocortex, particularly the prefrontal cortex, and thalamus likely contribute to seizure activity. To identify possible morphometric and functional differences in the brains of IGE patients and normal controls, we employed measures of thalamic volumes, cortical thickness, gray–white blurring, fractional anisotropy (FA measures from diffusion tensor imaging (DTI and fractional amplitude of low frequency fluctuations (fALFF in thalamic subregions from resting state functional MRI. Data from 27 patients with IGE and 27 age- and sex-matched controls showed similar thalamic volumes, cortical thickness and gray–white contrast. There were no differences in FA values on DTI in tracts connecting the thalamus and prefrontal cortex. Functional analysis revealed decreased fALFF in the prefrontal cortex (PFC subregion of the thalamus in patients with IGE. We provide minimum detectable effect sizes for each measure used in the study. Our analysis indicates that fMRI-based methods are more sensitive than quantitative structural techniques for characterizing brain abnormalities in IGE.

  18. Early Intervention in Children with Developmental Disabilities

    OpenAIRE

    Beena Johnson

    2016-01-01

    Developmental disabilities consist of conditions that delay or impair the physical, cognitive, and/or psychological development of children. If not intervened at the earliest, these disabilities will cause significant negative impact on multiple domains of functioning such as learning, language, self-care and capacity for independent living. Common developmental disabilities include autism spectrum disorders, intellectual disabilities, developmental delay and cerebral palsy. About one fourth...

  19. An introduction to evolutionary developmental psychology.

    Science.gov (United States)

    Machluf, Karin; Liddle, James R; Bjorklund, David F

    2014-04-29

    Evolutionary developmental psychology represents a synthesis of modern evolutionary theory and developmental psychology. Here we introduce the special issue on evolutionary developmental psychology by briefly discussing the history of this field and then summarizing the variety of topics that are covered. In this special issue, leading researchers provide a collection of theoretical and empirical articles that highlight recent findings and propose promising areas for future research.

  20. Developmental enamel and anatomical tooth defects in dogs – Experience from veterinary dental referral practice and review of the literature

    Directory of Open Access Journals (Sweden)

    Sonja Catharina Boy

    2016-02-01

    Full Text Available Developmental tooth abnormalities in dogs are uncommon in general veterinary practice but understanding thereof is important for optimal management in order to maintain gnathic function through conservation of the dentition. The purpose of this review is to discuss abnormalities of enamel structure and macroscopic tooth anatomy in dogs encountered in veterinary dental referral practice in South Africa and the United Kingdom. The basis of the pathogenesis, resultant clinical appearance and the management principles of each anomaly will be considered. Future research should aim to provide a detailed individual tooth mineralization schedule for dogs.

  1. Developmental Structural Tooth Defects in Dogs – Experience From Veterinary Dental Referral Practice and Review of the Literature

    Science.gov (United States)

    Boy, Sonja; Crossley, David; Steenkamp, Gerhard

    2016-01-01

    Developmental tooth abnormalities in dogs are uncommon in general veterinary practice but understanding thereof is important for optimal management in order to maintain masticatory function through preservation of the dentition. The purpose of this review is to discuss clinical abnormalities of the enamel and general anatomy of dog teeth encountered in veterinary dental referral practice and described in the literature. More than 900 referral cases are seen annually between the two referral practices. The basis of the pathogenesis, resultant clinical appearance, and the principles of management for each anomaly will be described. Future research should be aimed toward a more detailed analysis of these conditions so rarely described in the literature. PMID:26904551

  2. Developmental Structural Tooth Defects in Dogs - Experience From Veterinary Dental Referral Practice and Review of the Literature.

    Science.gov (United States)

    Boy, Sonja; Crossley, David; Steenkamp, Gerhard

    2016-01-01

    Developmental tooth abnormalities in dogs are uncommon in general veterinary practice but understanding thereof is important for optimal management in order to maintain masticatory function through preservation of the dentition. The purpose of this review is to discuss clinical abnormalities of the enamel and general anatomy of dog teeth encountered in veterinary dental referral practice and described in the literature. More than 900 referral cases are seen annually between the two referral practices. The basis of the pathogenesis, resultant clinical appearance, and the principles of management for each anomaly will be described. Future research should be aimed toward a more detailed analysis of these conditions so rarely described in the literature. PMID:26904551

  3. Report to Congress on abnormal occurrences, October--December 1992

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event that the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from October 1 through December 31, 1992. There are two abnormal occurrences at nuclear power plants and six abnormal occurrences involving medical misadministration (all therapeutic) at NRC-licensed facilities discussed in this report. No abnormal occurrences were reported by the NRC's Agreement States. The report also contains information updating three previously reported abnormal occurrences

  4. Developmental mechanisms of arsenite toxicity in zebrafish (Danio rerio) embryos

    Energy Technology Data Exchange (ETDEWEB)

    Li Dan [Department of Genetics, National Research Institute for Family Planning, Beijing (China); Graduate School of Peking Union Medical College, Beijing (China); Lu Cailing [Department of Genetics, National Research Institute for Family Planning, Beijing (China); Wang Ju; Hu Wei; Cao Zongfu; Sun Daguang [Department of Genetics, National Research Institute for Family Planning, Beijing (China); Graduate School of Peking Union Medical College, Beijing (China); Xia Hongfei [Department of Genetics, National Research Institute for Family Planning, Beijing (China); Ma Xu [Department of Genetics, National Research Institute for Family Planning, Beijing (China) and Graduate School of Peking Union Medical College, Beijing (China) and Department of Reproductive Genetics, WHO Collaborative Center for Research in Human Reproduction, Beijing (China)], E-mail: genetic@263.net.cn

    2009-02-19

    Arsenic usually accumulates in soil, water and airborne particles, from which it is taken up by various organisms. Exposure to arsenic through food and drinking water is a major public health problem affecting some countries. At present there are limited laboratory data on the effects of arsenic exposure on early embryonic development and the mechanisms behind its toxicity. In this study, we used zebrafish as a model system to investigate the effects of arsenite on early development. Zebrafish embryos were exposed to a range of sodium arsenite concentrations (0-10.0 mM) between 4 and 120 h post-fertilization (hpf). Survival and early development of the embryos were not obviously influenced by arsenite concentrations below 0.5 mM. However, embryos exposed to higher concentrations (0.5-10.0 mM) displayed reduced survival and abnormal development including delayed hatching, retarded growth and changed morphology. Alterations in neural development included weak tactile responses to light (2.0-5.0 mM, 30 hpf), malformation of the spinal cord and disordered motor axon projections (2.0 mM, 48 hpf). Abnormal cardiac function was observed as bradycardia (0.5-2.0 mM, 60 hpf) and altered ventricular shape (2.0 mM, 48 hpf). Furthermore, altered cell proliferation (2.0 mM, 24 hpf) and apoptosis status (2.0 mM, 24 and 48 hpf), as well as abnormal genomic DNA methylation patterning (2.0 mM, 24 and 48 hpf) were detected in the arsenite-treated embryos. All of these indicate a possible relationship between arsenic exposure and developmental failure in early embryogenesis. Our studies suggest that the negative effects of arsenic on vertebrate embryogenesis are substantial.

  5. Sexual dysfunction within an adult developmental perspective.

    Science.gov (United States)

    Fagan, P J; Meyer, J K; Schmidt, C W

    1986-01-01

    The focus of this paper is on the adult who has adequately mastered the oedipal stage of psychosexual development and who presents with a sexual dysfunction. Drawing on the developmental sequence of Erik Erikson, the authors suggest that failure to address adequately an adult psychosocial crisis may result in sexual dysfunction. There may be both adult developmental deficits and regression to adolescent and adult stages previously negotiated. Both may be symptomatically represented by sexual dysfunction. The authors urge that the sexual and marital problems be evaluated within an adult developmental framework and that the therapy address the psychosocial issues which are appropriate to the developmental stage of the patient. PMID:3820320

  6. Context Matters: Support for Leader Developmental Readiness.

    Science.gov (United States)

    Thompson, Sara E; Reichard, Rebecca J

    2016-01-01

    Leader developers need to consider support for leader developmental readiness by examining organizational culture, job design and rewards, social support, and availability and structure of leader development programming.

  7. Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9t(7;9(p15;p22pat

    Directory of Open Access Journals (Sweden)

    Min Zhong

    2014-01-01

    Full Text Available Infantile spasm (IS is an epilepsy syndrome affecting infants and young toddlers and many causes have been reported, including occasional chromosomal abnormalities. We describe a 6-month-oldboy who experienced his first seizure at 5 months of age. The seizures were characterized by brief head nods and forceful flexion of the trunk and limbs. The patient has been developmentally delayed since birth and had deteriorated remarkably in the last month. Interictal electroencephalography showed modified hypsarrhythmia. Magnetic resonance imaging showed delayed myelination and widened brain extracellular space. Chromosomal analysis revealed the karyotype 46, XY, der(9 t(7;9(p15;p22 pat. His father has the asymptomatic reciprocal translocation t(7;9(p15;p22. This chromosomal abnormality is probably the etiology for the ISs and severe developmental anomalies in this patient. Chromosomal analysis may be done in patients with IS with no obvious cause.

  8. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    DEFF Research Database (Denmark)

    Sperling, Lene; Kiil, C; Larsen, L U;

    2007-01-01

    by specialists in fetal echocardiography. Zygosity was determined by DNA analysis in all twin pairs with the same sex. RESULTS: Among the 495 pregnancies the prenatal detection rate for severe structural abnormalities including chromosomal aneuploidies was 83% by the combination of a first-trimester nuchal...

  9. Infantile spasms in a boy with an abnormal karyotype (46, XY, der(9)t(7;9)(p15;p22)pat)

    OpenAIRE

    Min Zhong; Yanling Dong; Mei Li; Hong Yao

    2014-01-01

    Infantile spasm (IS) is an epilepsy syndrome affecting infants and young toddlers and many causes have been reported, including occasional chromosomal abnormalities. We describe a 6-month-oldboy who experienced his first seizure at 5 months of age. The seizures were characterized by brief head nods and forceful flexion of the trunk and limbs. The patient has been developmentally delayed since birth and had deteriorated remarkably in the last month. Interictal electroencephalography showed mod...

  10. Comparison of Clinical and Sonographic Prevalence of Developmental Dysplasia of the Hip

    Directory of Open Access Journals (Sweden)

    Behrooz Zandi

    2011-01-01

    Full Text Available Developmental dysplasia of the hip (DDH is one of the most widely discussed abnormalities in neonates. The advantages of sonographic examination are well known, but its main disadvantage is that it might lead to over diagnosis, which might cause over treatment. Variations in the incidence of developmental dysplasia of the hip are well known. During six months study since September 2006 all 1300 neonates (2600 hips were born in our hospital examined clinically and sonographically (587 hips in the first 48 hours of life. Sonography was performed according to Graf's method, which considers mild hip sonographic abnormalities as type II a. Type IIb Graf were considered pathologic. Sonography screening of 587 hips detected 36 instances of deviation from normal indicating a sonographic DDH incidence of 12.5%. However, only 8 neonates remained abnormal and required treatment, indicating a true DDH incidence of 6 per 1000 live birth. Risk of diagnosis clinically and sonographicaly were 2.5 and 4.5 percent respectively and was significant (P<0.00001, x2=1170. In order to avoid over diagnosis in first days examination, repeated clinical and sonographic examination is required.

  11. Abnormal epidermal changes after argon laser treatment

    Energy Technology Data Exchange (ETDEWEB)

    Neumann, R.A.; Knobler, R.M.; Aberer, E.; Klein, W.; Kocsis, F.; Ott, E. (Univ. of Vienna (Austria))

    1991-02-01

    A 26-year-old woman with a congenital port-wine stain on the forehead was treated three times at 2-month intervals with an argon laser. Six months after the last treatment, moderate blanching and mild scaling confined to the treated area was observed. A biopsy specimen of the treated area revealed a significant decrease in ectatic vessels. However, epidermal changes similar to those of actinic keratosis with disorganized cell layers and marked cytologic abnormalities were seen. Analysis of peripheral blood lymphocytes for a defect in DNA repair was negative. Multiple, argon laser-induced photothermal effects may be responsible for the changes observed in our case and may lead to premalignant epidermal transformation.

  12. Abnormal Presentation of Choriocarcinoma and Literature Review

    Science.gov (United States)

    Yousefi, Zohreh; Mottaghi, Mansorhe; Rezaei, Alireza; Ghasemian, Sedighe

    2016-01-01

    Introduction Gestational trophoblastic neoplasms have highly been malignant potential, which usually occurred in child-bearing age women. Unusual feature of this malignancy would be rare, it was important to take in mind the possibility of GTN in different manifestation. Based on the above mentioned, the aim of this presentation would be the management and outcome of a case series of choriocarcinoma patients with abnormal manifestation. Case Presentation We have presented four patients, first who initially manifestation with signs of septic shock, the second case with severe gastrointestinal hemorrhage, the third case with postpartum infection and the forth case was a postmenopausal bleeding patient. Conclusions In case of metastatic choriocarcinoma with precise history, accurate diagnosis and appropriate treatment have led us to curable results. PMID:27482332

  13. Residual gait abnormalities in surgically treated spondylolisthesis.

    Science.gov (United States)

    Shelokov, A; Haideri, N; Roach, J

    1993-11-01

    The authors retrospectively studied seven patients who had in situ fusion as adolescents for high-grade (IV, V) spondylolisthesis unresponsive to more conservative means. All patients achieved solid bony union; their pain was relieved; and hamstring spasm had resolved. The authors sought to determine whether crouch gait or any other abnormalities could be demonstrated in patients exhibiting clinical parameters of success. Each patient underwent gait analysis, radiographic analysis, and a physical examination. Four of seven patients demonstrated slight degrees of forward trunk lean during varying phases of gait accompanied by increased hip flexion. One patient demonstrated increased trunk extension accompanied by limited hip flexion. Two patients were essentially normal. The authors were unable to quantify residual crouch in these patients with solidly fused high-grade spondylolisthesis.

  14. Abnormal uterine bleeding: a clinicohistopathological analysis

    Directory of Open Access Journals (Sweden)

    Anupamasuresh Y

    2014-06-01

    Methods: In our prospective study of 359 Patients of the age between 46 and 73 years, clinical characteristics and the pattern of endometrial histopathology and their association in women, who present with abnormal uterine bleeding, are categorised into six groups. Results: In our study, a significant correlation of histopathology and BMI was observed with endometrial hyperplasia and malignancy in obese patient i.e. 37 out 96 and 13 out of 23 respectively. The incidence of malignancy has been increasing with the age being 1.6% in 46-50 years to 60% in 70-75 years. In our study 116 (32.3% had hypertension, 33 patients (9.2% had diabetes mellitus, 40 patients (11.1% had hypothyroidism. Conclusions: We found a maximum incidence of AUB in multiparous women. Clinicohistopathological analysis of AUB revealed endometrial hyperplasia in majority of patients. [Int J Reprod Contracept Obstet Gynecol 2014; 3(3.000: 656-661

  15. Protruding labia minora: abnormal or just uncool?

    Science.gov (United States)

    Michala, Lina; Koliantzaki, Sofia; Antsaklis, Aris

    2011-09-01

    There is a wide variety in the appearance of normal female external genitalia. Nevertheless a specific prototype is promoted by the media, leading to a false sense that all other appearances are abnormal. As adolescents become sexually aware at an earlier age, most of them are worried about the appearance of their genitalia, especially when labia minora protrude beyond labia majora. This is a prospective audit of adolescents presenting for assessment of their perceived abnormal genitalia. Sixteen girls aged 10.2 to 17.8 years presented between June 2009 and December 2010 to a specialist adolescent gynecology service. Their mean labial width was 36 mm (range: 20-55 mm). In six girls, the reason for attending the service was inequality of the size of labia ranging between 6 mm and 35 mm (mean of 20 mm). Among the remaining 10 girls, the concern had arisen through comparison with a prepubescent sibling (one case), change of genitalia during puberty (four cases), looking at internet pictures (four cases), and looking at an anatomy book (one case). Risks of Female Genital Cosmetic Surgery (FGCS) have not been adequately documented, especially with regards to sexual function and long-term patient satisfaction. External genitalia are likely to change during puberty and therefore, any genital operation in the absence of clear pathology should be deferred until adulthood. Even then, women should have clear expectations of what will be achieved with the operation in terms of appearance and function. PMID:21696338

  16. Megalin–deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice

    DEFF Research Database (Denmark)

    Storm, Tina; Heegaard, Steffen; Christensen, Erik I;

    2014-01-01

    In man, mutations of the megalin-encoding gene causes the rare Donnai-Barrow/Facio-Oculo-Acoustico-Renal Syndrome, which is partially characterized by high-grade myopia. Previous studies of renal megalin function have established that megalin is crucial for conservation of renal filtered nutrients...... that megalin localizes to vesicular structures in the RPE and NPCBE cells. Histological investigations of ocular mouse tissue also identified a severe myopia phenotype as well as enlarged RPE melanosomes and abnormal ciliary body development in the megalin-deficient mice. In conclusion, the complex ocular...... phenotype observed in the megalin-deficient mice suggests that megalin-mediated developmental abnormalities may contribute to the high myopia phenotype observed in the Donnai-Barrow Syndrome patients and, thus, that megalin harbors important roles in ocular development and physiology. Finally, our data show...

  17. State of the States in Developmental Disabilities

    Science.gov (United States)

    Braddock, David; Hemp, Richard; Rizzolo, Mary Kay

    2008-01-01

    This is the latest edition of the "State of the States in Developmental Disabilities" study--a thorough and the only one of its kind investigation on public spending, revenues, and programmatic trends of intellectual and developmental programs and services within the United States since 1977. Directed by leading researcher, Dr. David Braddock, the…

  18. Developmental Perspectives on the Social Studies.

    Science.gov (United States)

    Rosenzweig, Linda W., Ed.

    This bulletin provides an overview of developmental theory and practice in relation to social studies instruction in K-12 curriculum. In the first of eight chapters developmental theories pertaining to teaching and learning social studies are presented. The theories of Erik Erikson, Jane Loevinger, Jean Piaget, Lawrence Kohlberg, and Robert Selman…

  19. Piaget's Enduring Contribution to Developmental Psychology.

    Science.gov (United States)

    Beilin, Harry

    1992-01-01

    Describes Jean Piaget's transformation of society's conception of childhood thought. Emphasizes the enduring contribution to developmental psychology of Piaget's constructivism, his description of developmental mechanisms, his cognitivism, his explication of structural and functional analysis, and his addressing of epistemological issues and…

  20. Essential Role of Culture in Developmental Psychology

    Science.gov (United States)

    Miller, Joan G.

    2005-01-01

    This chapter argues for the essential role of culture in forming the basic constructs and theories of developmental psychology. The case is made for the need to overcome the cultural insularity of core developmental concepts and methods in order to create a psychology that is more truly universal.

  1. Innovative Developmental Education Programs: A Texas Model

    Science.gov (United States)

    Booth, Eric A.; Capraro, Mary Margaret; Capraro, Robert M.; Chaudhuri, Nandita; Dyer, James; Marchbanks, Miner P., III

    2014-01-01

    This article provides insights from a 2-year, cross-site evaluation of state funded developmental education sites and serves as a focus article for response by those sites. Receiving grants from the Texas Higher Education Coordinating Board (THECB), nine sites (5 community colleges and 4 universities) implemented innovative developmental education…

  2. Psychological Resources of Adults with Developmental Dyslexia

    Science.gov (United States)

    Lockiewicz, Marta; Bogdanowicz, Katarzyna M.; Bogdanowicz, Marta

    2014-01-01

    The aim of our study was to describe specific psychological resources of adults with developmental dyslexia and compare them with psychological resources of adults without developmental dyslexia. Potential differences were analyzed in visual-spatial, creative, and motivational abilities. No evidence was found for either creative, or visuospatial…

  3. A Taxometric Investigation of Developmental Dyslexia Subtypes

    Science.gov (United States)

    O'Brien, Beth A.; Wolf, Maryanne; Lovett, Maureen W.

    2012-01-01

    Long-standing issues with the conceptualization, identification and subtyping of developmental dyslexia persist. This study takes an alternative approach to examine the heterogeneity of developmental dyslexia using taxometric classification techniques. These methods were used with a large sample of 671 children ages 6-8 who were diagnosed with…

  4. Developmental Assessment. Assessment Resource Kit(ARK).

    Science.gov (United States)

    Masters, Geoff; Forster, Margaret

    Developmental assessment is the process of monitoring a student's progress through an area of learning so that decisions can be made about the best way to facilitate further learning. The unique feature of developmental assessment is its use of a progress map. The progress map, or continuum, describes the development in an area of learning and so…

  5. Delaying Developmental Mathematics: The Characteristics and Costs

    Science.gov (United States)

    Johnson, Marianne; Kuennen, Eric

    2004-01-01

    This paper investigates which students delay taking a required developmental mathematics course and the impact of delay on student performance in introductory microeconomics. Analysis of a sample of 1462 students at a large Midwestern university revealed that, although developmental-level mathematics students did not reach the same level of…

  6. Developmental Dislocation (Dysplasia) of the Hip (DDH)

    Science.gov (United States)

    .org Developmental Dislocation (Dysplasia) of the Hip (DDH) Page ( 1 ) The hip is a “ball-and-socket” joint. In a normal hip, the ball at the ... American Academy of Orthopaedic Surgeons. .org Developmental Dislocation (Dysplasia) of the Hip cont. • Family history of DDH (parents or siblings) • ...

  7. Exploring Best Practices in Developmental Math

    Science.gov (United States)

    Cafarella, Brian V.

    2014-01-01

    Currently, many community colleges are struggling with poor student success rates in developmental math. Therefore, this qualitative study focused on employing best practices in developmental mathematics at an urban community college in Dayton, Ohio. Guiding the study were the following research questions: What are the best practices utilized by a…

  8. Modeling developmental transitions in adaptive resonance theory

    NARCIS (Netherlands)

    M.E.J. Raijmakers; P.C.M. Molenaar

    2004-01-01

    Neural networks are applied to a theoretical subject in developmental psychology: modeling developmental transitions. Two issues that are involved will be discussed: discontinuities and acquiring qualitatively new knowledge. We will argue that by the appearance of a bifurcation, a neural network can

  9. Introducing Newspapers in Developmental Reading Classes

    Science.gov (United States)

    Karstadt, Roberta; Rey, Victoria M.

    2009-01-01

    Newspapers are an effective educational and motivational tool in developmental reading classes. However, many students are unfamiliar with newspapers and read them infrequently. In order to foster newspaper reading and familiarize the college freshmen enrolled in their developmental reading classes with newspapers, the writers of this article…

  10. 29 CFR 1952.311 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.311 Section 1952.311 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Hawaii § 1952.311 Developmental...

  11. 29 CFR 1952.321 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.321 Section 1952.321 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Indiana § 1952.321 Developmental...

  12. 29 CFR 1952.91 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.91 Section 1952.91 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR... schedule. The South Carolina plan is developmental. The following is the schedule of the...

  13. 29 CFR 1952.273 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.273 Section 1952.273 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Vermont § 1952.273 Developmental...

  14. 29 CFR 1952.341 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.341 Section 1952.341 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Wyoming § 1952.341 Developmental...

  15. 29 CFR 1952.291 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.291 Section 1952.291 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Nevada § 1952.291 Developmental...

  16. 29 CFR 1952.241 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... exceptions to be no broader than those contained in 29 CFR part 1903); (4) Clarification of the appropriate... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.241 Section 1952.241 Labor... (CONTINUED) APPROVED STATE PLANS FOR ENFORCEMENT OF STATE STANDARDS Alaska § 1952.241 Developmental...

  17. 29 CFR 1952.151 - Developmental schedule.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 9 2010-07-01 2010-07-01 false Developmental schedule. 1952.151 Section 1952.151 Labor Regulations Relating to Labor (Continued) OCCUPATIONAL SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR... schedule. The North Carolina Plan is developmental. The following is the schedule of the...

  18. Dyslexia: a developmental language disorder.

    Science.gov (United States)

    Simpson, S

    2000-09-01

    The acquisition of literacy in an alphabetic script such as English makes heavy demands on linguistic skills. The relation between spoken and written language however, is far from straightforward. This article reviews the research that suggests that phonological processing skills are crucial in the translation of symbols to sounds, and the development of rapid and automatic decoding skills. It examines research that indicates that children whose phonological processing skills are compromised in some way, are at-risk of experiencing difficulties in the acquisition of literacy; it supports the suggestion that dyslexia can be viewed as lying on the continuum of developmental language disorders. It goes on to relate theory to practice and discusses the responsibilities of health care professionals in relation to the early identification of dyslexia, and makes suggestions regarding intervention. In particular, it looks at the responsibilities of speech and language therapy services in the care and management of children with dyslexia.

  19. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

    Full Text Available The authors define adolescence and developmental dysplasia of the hip (DDH. Special attention is paid to pathological findings characteristic of DDH in adolescence (unrecognized and untreated DDH; treated DDH, but non-terminated treatment; DDH diagnosed with delay, inadequately treated, with complications. The authors emphasise that DDH treatment has to be successfully terminated well before the adolescence; possibilities are explained on management modes at the time of adolescence, and possible persons guilty for the persistence of later hip problems are indicated. Based on the authors' experience and having in mind all surgical possibilities for the treatment (pelvic osteotomies, femoral osteotomies, trochanteroplasties, leg length equalization procedures the authors propose treatment protocols. The intention is to provide better treatment results and to prevent secondary hip arthrosis. Furthermore, how to improve the struggle against DDH is suggested.

  20. South Africa's "Developmental State" Distraction

    Directory of Open Access Journals (Sweden)

    Patrick Bond

    2008-01-01

    Full Text Available The idea that the South African ruling elite has the political will to establish a “developmental state” project early in the 21st century is popular, but is not borne out by evidence thus far. Patrick Bond reviews new information about the neoliberal project’s failures, which range from macroeconomics to microdevelopment to pro-corporate megaprojects, and which are accompanied by a tokenistic welfare policy not designed to provide sufficient sustenance or entitlements to the society. The critique by the independent left might be revised in the event that the trade unions and communist influences within the ruling Alliance strengthen, but there is a greater likelihood that the world capitalist crisis will have the opposite impact. Nevertheless, widespread grassroots protests and impressive campaigning by civil society keep alive the hope for a post-capitalist, post-nationalist politics, as bandaiding South African capitalism runs into trouble.

  1. Crowding, reading, and developmental dyslexia.

    Science.gov (United States)

    Martelli, Marialuisa; Di Filippo, Gloria; Spinelli, Donatella; Zoccolotti, Pierluigi

    2009-04-17

    We tested the hypothesis that crowding effects are responsible for the reading slowness characteristic of developmental dyslexia. A total of twenty-nine Italian dyslexics and thirty-three age-matched controls participated in various parts of the study. In Experiment 1, we measured contrast thresholds for identifying letters and words as a function of stimulus duration. Thresholds were higher in dyslexics than controls for words (at a limited time exposure) but not for single letters. Adding noise to the stimuli produced comparable effects in dyslexics and controls. At the long time exposure thresholds were comparable in the two groups. In Experiment 2, we measured the spacing between a target letter and two flankers at a fixed level of performance as a function of eccentricity and size. With eccentricity, the critical spacing (CS) scaled in the control group with 0.62 proportionality (a value of b close to Bouma's law, 0.50) and with a greater proportionality (0.95) in the dyslexic group. CS was independent of size in both groups. In Experiment 3, we examined the critical print size (CPS), that is, the increase in reading rate up to a critical character size (S. T. Chung, J. S. Mansfield, & G. E. Legge, 1998). CPS of dyslexic children was greater than that of controls. Individual maximal reading speed was predicted by individual bs (from Experiment 2). The maximal reading rate achieved by dyslexics at CPS (and also for larger print sizes) was below the values observed in controls. We conclude that word analysis in dyslexics is slowed because of greater crowding effects, which limit letter identification in multi-letter arrays across the visual field. We propose that the peripheral reading of normal readers might constitute a model for dyslexic reading. The periphery model accounts for 60% of dyslexics' slowness. After compensating for crowding, the dyslexics' reading rate remains slower than that of proficient readers. This failure is discussed in terms of a

  2. DEVELOPMENTAL COORDINATION DISORDER IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Saeideh MIRAFKHAMI

    2010-04-01

    Full Text Available ObjectiveIn this article, a motor skill disorder called developmental coordination disorder (DCD, that is usually first diagnosed during childhood, is explained and discussed. In the year 1987, DCD was formally recognized as a distinct disorder in children by the American Psychiatric Association  (APA. DCD is a generalized term for the children who have some degrees of impairment in the development of motor coordination and therefore have difficulties with physical skills which significantly interfere with their academic achievements and /or performing everyday activities. As they develop, other age-related tasks are also below average. Because these impairment & conditions are often associated with emotional distress, they can seriously interfere with the person's everyday life and social relationships. Reviews indicate that most of the training rocedures have only a limited effect on the development of general coordination, and that they have no effect at all on academic progress.This includes approaches based on assumed underlying deficiencies such as sensory integration deficits and kinesthetic functioning deficits, as well as the more traditional perceptual - motor training. One new approach is Cognitive Orientation to daily Occupational Performance (CO-OP, based on problem - solving strategies and guided discovery of the child and task specific strategies. The aim of this article was to inform, promote and disseminate more information about some difficulties in applying the diagnostic criteria for DCD. Also, a brief review of the researches on the intervention methods is presented.Keywords: Developmental coordination disorder, Motor skills disorder, Childhood disorder, Intervention methods

  3. Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

    Science.gov (United States)

    Li, Wen; Wang, Xianming; Fan, Wenxia; Zhao, Ping; Chan, Yau-Chi; Chen, Shen; Zhang, Shiqiang; Guo, Xiangpeng; Zhang, Ya; Li, Yanhua; Cai, Jinglei; Qin, Dajiang; Li, Xingyan; Yang, Jiayin; Peng, Tianran; Zychlinski, Daniela; Hoffmann, Dirk; Zhang, Ruosi; Deng, Kang; Ng, Kwong-Man; Menten, Bjorn; Zhong, Mei; Wu, Jiayan; Li, Zhiyuan; Chen, Yonglong; Schambach, Axel; Tse, Hung-Fat; Pei, Duanqing; Esteban, Miguel A

    2012-01-01

    Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells in all tested assays. TS iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells, but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body formation. These data support that abnormal organogenesis and early lethality in TS are not caused by a tissue-specific differentiation blockade, but rather involves other abnormalities including impaired placentation. PMID:21949351

  4. Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

    Science.gov (United States)

    Li, Wen; Wang, Xianming; Fan, Wenxia; Zhao, Ping; Chan, Yau-Chi; Chen, Shen; Zhang, Shiqiang; Guo, Xiangpeng; Zhang, Ya; Li, Yanhua; Cai, Jinglei; Qin, Dajiang; Li, Xingyan; Yang, Jiayin; Peng, Tianran; Zychlinski, Daniela; Hoffmann, Dirk; Zhang, Ruosi; Deng, Kang; Ng, Kwong-Man; Menten, Bjorn; Zhong, Mei; Wu, Jiayan; Li, Zhiyuan; Chen, Yonglong; Schambach, Axel; Tse, Hung-Fat; Pei, Duanqing; Esteban, Miguel A

    2012-01-01

    Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells in all tested assays. TS iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells, but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body formation. These data support that abnormal organogenesis and early lethality in TS are not caused by a tissue-specific differentiation blockade, but rather involves other abnormalities including impaired placentation.

  5. Developmental systems biology flourishing on new technologies

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Organism development is a systems level process. It has benefited greatly from the recent technological advances in the field of systems biology. DNA microarray, phenome, interactome and transcriptome mapping, the new generation of deep sequencing technologies,and faster and better computational and modeling approaches have opened new frontiers for both systems biologists and developmental biologists to reexamine the old developmental biology questions, such as pattern formation, and to tackle new problems, such as stem cell reprogramming. As showcased in the International Developmental Systems Biology Symposium organized by Chinese Academy of Sciences, developmental systems biology is flourishing in many perspectives, from the evolution of developmental systems, to the underlying genetic and molecular pathways and networks, to the genomic, epigenomic and noncoding levels, to the computational analysis and modeling. We believe that the field will continue to reap rewards into the future with these new approaches.

  6. Developmental systems biology flourishing on new technologies.

    Science.gov (United States)

    Han, Jing-Dong J; Liu, Yi; Xue, Huiling; Xia, Kai; Yu, Hong; Zhu, Shanshan; Chen, Zhang; Zhang, Wei; Huang, Zheng; Jin, Chunyu; Xian, Bo; Li, Jing; Hou, Lei; Han, Yixing; Niu, Chaoqun; Alcon, Timothy C

    2008-10-01

    Organism development is a systems level process. It has benefited greatly from the recent technological advances in the field of systems biology. DNA microarray, phenome, interactome and transcriptome mapping, the new generation of deep sequencing technologies, and faster and better computational and modeling approaches have opened new frontiers for both systems biologists and developmental biologists to reexamine the old developmental biology questions, such as pattern formation, and to tackle new problems, such as stem cell reprogramming. As showcased in the International Developmental Systems Biology Symposium organized by Chinese Academy of Sciences, developmental systems biology is flourishing in many perspectives, from the evolution of developmental systems, to the underlying genetic and molecular pathways and networks, to the genomic, epigenomic and noncoding levels, to the computational analysis and modeling. We believe that the field will continue to reap rewards into the future with these new approaches. PMID:18937914

  7. Early Intervention in Children with Developmental Disabilities

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2016-01-01

    Full Text Available Developmental disabilities consist of conditions that delay or impair the physical, cognitive, and/or psychological development of children. If not intervened at the earliest, these disabilities will cause significant negative impact on multiple domains of functioning such as learning, language, self-care and capacity for independent living. Common developmental disabilities include autism spectrum disorders, intellectual disabilities, developmental delay and cerebral palsy. About one fourth of young children in developing countries are at risk for or have developmental delay or disabilities. Inadequate stimulation has significant negative impact on physical, socioemotional and cognitive development of children. Hence early scientific intervention programs are necessary in the management of children at risk for developmental delay.

  8. Correlation between high-risk pregnancy and developmental delay in children aged 4–60 months

    Directory of Open Access Journals (Sweden)

    Saba Amiri

    2012-09-01

    Full Text Available Background: The future development of children is considered more than ever now due to the advances in medical knowledge and thus the increase in survival rates of high-risk infants. This study investigated the correlation between high-risk pregnancy and developmental delay in children aged 4–60 months. Methods: This descriptive study was conducted on 401 mothers and their children (4–60 months who visited health service centers affiliated to Isfahan University of Medical Sciences, Iran, in 2011. Sampling was carried out in several stages, and the Ages and Stage Questionnaire was completed by the participants. Data were analyzed with SPSS 18 software and independent t-test; Mann-Whitney and logistic-regression tests were used. Results: The average age of children in the low-risk pregnancy group was 22±16 months, and that in the high-risk pregnancy group was 18.9±14.8 months. The majority of children were female (53.1%. The prevalence of high-risk pregnancies was 80.5%, and the prevalence of developmental delay was 18.7%. Multiple pregnancies, low birth weight, habitual abortions, maternal medical disorders in pregnancy, and gestational diabetes had significant correlations with developmental delay in children (P<0.04. In the logistic model, male gender, low birth weight, family marriage, and maternal medical disorders during pregnancy showed significant correlations with developmental delay in children (P<0.05. Additionally, abnormal body mass index (BMI and social and economic status showed probability values close to the significance level (P = 0.05, whereas other high-risk pregnancy variables had no correlation with developmental delay in children. A correlation between high-risk pregnancy and developmental delay (P = 0.002 and fine motor delay was observed (P = 0.02, but no correlation was observed between high-risk pregnancy and other developmental domains. Conclusion: This study showed that some high-risk pregnancy variables had a

  9. [The growing spine : Normal and abnormal development].

    Science.gov (United States)

    Stücker, R

    2016-06-01

    Growth of the pediatric spine occurs in phases. The first 5 years of life are characterized by rapid growth. The lower extremities and trunk contribute equally to the entire growth by 50 % each. In the following years, until the onset of puberty, a steady but reduced rate of growth is observed. During these years a T1-S1 growth of only 1 cm per year can be detected and the spine contributes only one third to the entire growth. Puberty consists of an acceleration phase lasting 2 years. In the first year of this phase the growth peak of the extremities and in the following year the growth peak of the spine can be noticed. The ensuing deceleration phase of puberty lasts for 3 years. During that period the development of the Risser sign, menarche, and fusion of the trochanter epiphysis are taking place. Clinical parameters such as sitting height, standing height, and arm span may be used to evaluate growth. Important radiological parameters include the Risser sign, the determination of skeletal age according to Greulich and Pyle, and the T1-T12 height. The use of the olecranon method during the ascending phase of puberty can be recommended. Problems of the developing spine may include malformations, developmental disruptions or deformations. According to their manifestations they have a different prognosis, which can be estimated by knowledge of residual growth and the typical course of spinal growth in childhood. PMID:27250620

  10. Embryo-fetal exposure and developmental outcome of thalidomide following oral and intravaginal administration to pregnant rabbits.

    Science.gov (United States)

    Hui, Julia Y; Hoffmann, Matthew; Kumar, Gondi

    2014-09-01

    Studies in pregnant rabbits were conducted to evaluate if there are any differences in the uptake of thalidomide into the intrauterine compartment and developmental toxicity risk following oral and intravaginal administration. Thalidomide concentrations in maternal plasma, yolk sac cavity (YSC) fluid and embryo following intravaginal administration were 2- to 7-fold lower than their respective levels after oral administration. Ratios of thalidomide concentration in YSC fluid to maternal plasma were similar between these two routes, indicating no difference in uptake into the intrauterine compartment. A rabbit embryo-fetal development study using oral and intravaginal thalidomide administration at 2mg/kg/day (a dose >10,000-fold higher than the expected amount of thalidomide in human semen) did not result in any developmental abnormalities. These data demonstrated no preferential transfer mechanism of thalidomide from vagina to conceptus, and no additional embryo-fetal developmental toxicity risks with thalidomide exposure via the vaginal route.

  11. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

    Science.gov (United States)

    Welshimer, K; Swift, M

    1982-09-01

    Heterozygous carriers of an ataxia-telangiectasia (A-T), Fanconi anemia (FA), or xeroderma pigmentosum (XP) gene may be predisposed to some of the same congenital malformations or developmental disabilities that are common among homozygotes. To test this hypothesis, medical records, death certificates, and questionnaires from 27 A-T families, 25 FA families, and 31 XP families were reviewed. Eleven XP blood relatives (out of 1,100) were found with moderate or severe unexplained mental retardation, a significant excess compared to the FA and A-T families (3/1,439). There were four microcephalic XP blood relatives and none in the FA or A-T families. In the A-T families, idiopathic scoliosis and vertebral anomalies were in excess, while genitourinary and distal limb malformations were found in the FA families. A-T, FA, or XP heterozygotes may constitute an important proportion of individuals at risk for specific malformations or developmental abnormalities. PMID:7124732

  12. Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

    Directory of Open Access Journals (Sweden)

    Elena eCid

    2014-04-01

    Full Text Available Developmental cortical malformations comprise a large spectrum of histopathological brain abnormalities and syndromes. Their genetic, developmental and clinical complexity suggests they should be better understood in terms of the complementary action of independently timed perturbations (i.e. the multiple-hit hypothesis. However, understanding the underlying biological processes remains puzzling. Here we induced developmental cortical malformations in offspring, after intraventricular injection of methylazoxymethanol (MAM in utero in mice. We combined extensive histological and electrophysiological studies to characterize the model. We found that MAM injections at E14 and E15 induced a range of cortical and hippocampal malformations resembling histological alterations of specific genetic mutations and transplacental mitotoxic agent injections. However, in contrast to most of these models, intraventricularly MAM-injected mice remained asymptomatic and showed no clear epilepsy-related phenotype as tested in long-term chronic recordings and with pharmacological manipulations. Instead, they exhibited a non-specific reduction of hippocampal-related brain oscillations (mostly in CA1; including theta, gamma and HFOs; and enhanced thalamocortical spindle activity during non-REM sleep. These data suggest that developmental cortical malformations do not necessarily correlate with epileptiform activity. We propose that the intraventricular in utero MAM approach exhibiting a range of rhythmopathies is a suitable model for multiple-hit studies of associated neurological disorders.

  13. Automatic classification of squamosal abnormality in micro-CT images for the evaluation of rabbit fetal skull defects using active shape models

    Science.gov (United States)

    Chen, Antong; Dogdas, Belma; Mehta, Saurin; Bagchi, Ansuman; Wise, L. David; Winkelmann, Christopher

    2014-03-01

    High-throughput micro-CT imaging has been used in our laboratory to evaluate fetal skeletal morphology in developmental toxicology studies. Currently, the volume-rendered skeletal images are visually inspected and observed abnormalities are reported for compounds in development. To improve the efficiency and reduce human error of the evaluation, we implemented a framework to automate the evaluation process. The framework starts by dividing the skull into regions of interest and then measuring various geometrical characteristics. Normal/abnormal classification on the bone segments is performed based on identifying statistical outliers. In pilot experiments using rabbit fetal skulls, the majority of the skeletal abnormalities can be detected successfully in this manner. However, there are shape-based abnormalities that are relatively subtle and thereby difficult to identify using the geometrical features. To address this problem, we introduced a model-based approach and applied this strategy on the squamosal bone. We will provide details on this active shape model (ASM) strategy for the identification of squamosal abnormalities and show that this method improved the sensitivity of detecting squamosal-related abnormalities from 0.48 to 0.92.

  14. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

    Science.gov (United States)

    Tüysüz, Beyhan; Gazioğlu, Nurperi; Ungür, Savaş; Aji, Dolly Yafet; Türkmen, Seval

    2009-01-01

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. PMID:19002453

  15. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

    International Nuclear Information System (INIS)

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. (orig.)

  16. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

    Energy Technology Data Exchange (ETDEWEB)

    Tueysuez, Beyhan [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Gazioglu, Nurperi [Istanbul University, Department of Neurosurgery, Cerrahpasa Medical School, Istanbul (Turkey); Uenguer, Savas [Istanbul University, Department of Pediatric Radiology, Cerrahpasa Medical School, Istanbul (Turkey); Aji, Dolly Yafet [Istanbul University, Department of Pediatrics, Cerrahpasa Medical School, Istanbul (Turkey); Tuerkmen, Seval [Istanbul University, Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul (Turkey); Universitatsklinikum Berlin, Charite Virchow-Klinik, Berlin (Germany)

    2009-01-15

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. (orig.)

  17. Neonatal seizures: the overlap between diagnosis of metabolic disorders and structural abnormalities. Case report

    Directory of Open Access Journals (Sweden)

    Freitas Alessandra

    2003-01-01

    Full Text Available Inborn metabolic errors (IME and cortical developmental malformations are uncommon etiologies of neonatal seizures, however they may represent treatable causes of refractory epilepsy and for this reason must be considered as possible etiological factors. This case report aims to demonstrate the importance of neuroimaging studies in one patient with neonatal seizures, even when there are clues pointing to a metabolic disorder. CASE REPORT: A previously healthy 14 day-old child started presenting reiterated focal motor seizures (FMS which evolved to status epilepticus. Exams showed high serum levels of ammonia and no other abnormalities. A metabolic investigation was conducted with normal results. During follow-up, the patient presented developmental delay and left side hemiparesia. Seizures remained controlled with anti-epileptic drugs for four months, followed by relapse with repetitive FMS on the left side. Temporary improvement was obtained with anti-epileptic drug adjustment. At the age of 6 months, during a new episode of status epilepticus, high ammonia levels were detected. Other metabolic exams remained normal. The child was referred to a video-electroencephalographic monitoring and continuous epileptiform discharges were recorded over the right parasagittal and midline regions, with predominance over the posterior quadrant. A new neuroimaging study was performed and displayed a malformation of cortical development. Our case illustrates that because newborns are prone to present metabolic disarrangement, an unbalance such as hyperammonemia may be a consequence of acute events and conduct to a misdiagnosis of IME.

  18. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

    OpenAIRE

    Mansouri, Mahmoud R.

    2006-01-01

    Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. They can also affect gene expression by separating a gene and its promoter element from distant regulatory elements. We have used characterisation of structural chromosomal abnormalit...

  19. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    OpenAIRE

    Bozcali, Evin; Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety co...

  20. The persistence of abnormal returns at industry and firm levels

    OpenAIRE

    Bou, Juan Carlos; Satorra, Albert

    2003-01-01

    The present paper proposes a model for the persistence of abnormal returns both at firm and industry levels, when longitudinal data for the profits of firms classiffied as industries are available. The model produces a two- way variance decomposition of abnormal returns: (a) at firm versus industry levels, and (b) for permanent versus transitory components. This variance decomposition supplies information on the relative importance of the fundamental components of abnormal r...

  1. Neuroimaging of schizophrenia: structural abnormalities and pathophysiological implications

    OpenAIRE

    Buckley, Peter F.

    2005-01-01

    Schizophrenia, once considered a psychological malady devoid of any organic brain substrate, has been the focus of intense neuroimaging research. Findings reveal mild but generalized tissue loss as well as more selective focal loss. It is unclear whether these abnormalities reflect neurodevelopmental or neurodegenerative processes, or some combination of each; current evidence favors a preponderance of neurodevelopmental abnormalities. The pattern of brain abnormalities is also influenced by ...

  2. Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

    OpenAIRE

    Wladimiroff, Juriy; Bhaggoe, W.; Kristelijn, M. J E; Cohen-Overbeek, Titia; Hollander, Nicolette; Brandenburg, Helen; Los, F.J.

    1995-01-01

    textabstractStructural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abn...

  3. Real-time Multiple Abnormality Detection in Video Data

    DEFF Research Database (Denmark)

    Have, Simon Hartmann; Ren, Huamin; Moeslund, Thomas B.

    2013-01-01

    Automatic abnormality detection in video sequences has recently gained an increasing attention within the research community. Although progress has been seen, there are still some limitations in current research. While most systems are designed at detecting specific abnormality, others which...... are capable of detecting more than two types of abnormalities rely on heavy computation. Therefore, we provide a framework for detecting abnormalities in video surveillance by using multiple features and cascade classifiers, yet achieve above real-time processing speed. Experimental results on two datasets...

  4. Prenatal imaging of distal limb abnormalities using OCT in mice

    Science.gov (United States)

    Larina, Irina V.; Syed, Saba H.; Dickinson, Mary E.; Overbeek, Paul; Larin, Kirill V.

    2012-01-01

    Congenital abnormalities of the limbs are common birth defects. These include missing or extra fingers or toes, abnormal limb length, and abnormalities in patterning of bones, cartilage or muscles. Optical Coherence Tomography (OCT) is a 3-D imaging modality, which can produce high-resolution (~8 μm) images of developing embryos with an imaging depth of a few millimeters. Here we demonstrate the capability of OCT to perform 3D imaging of limb development in normal embryos and a mouse model with congenital abnormalities. Our results suggest that OCT is a promising tool to analyze embryonic limb development in mammalian models of congenital defects.

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

    Science.gov (United States)

    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.

  6. Abnormal traffic flow data detection based on wavelet analysis

    Directory of Open Access Journals (Sweden)

    Xiao Qian

    2016-01-01

    Full Text Available In view of the traffic flow data of non-stationary, the abnormal data detection is difficult.proposed basing on the wavelet analysis and least squares method of abnormal traffic flow data detection in this paper.First using wavelet analysis to make the traffic flow data of high frequency and low frequency component and separation, and then, combined with least square method to find abnormal points in the reconstructed signal data.Wavelet analysis and least square method, the simulation results show that using wavelet analysis of abnormal traffic flow data detection, effectively reduce the detection results of misjudgment rate and false negative rate.

  7. Report to Congress on abnormal occurrences, April--June 1989

    International Nuclear Information System (INIS)

    The Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event which the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. For this reporting period, there was one abnormal occurrence at nuclear power plants licensed to operate involving significant deficiencies in management controls at Slurry Nuclear Power Station. There was one abnormal occurrence under other NRC-issued licenses; the event involved a medical therapy misadministration. One other abnormal occurrence, involving industrial radiography overexposures, was reported by an Agreement State (Texas). 40 refs

  8. Screening for fetal and genetic abnormalities.

    Science.gov (United States)

    Simpson, J L

    1991-09-01

    Screening for genetic abnormalities is an integral part of obstetrics. Prior to initiating screening, however, several prerequisites must be met: (i) capacity to alter clinical management, (ii) cost effectiveness, (iii) reliable means (usually assays) of assessment, and (iv) capacity to handle problems. In all pregnancies one should determine in systematic fashion whether family history places a pregnant woman at increased risk over the background risk of 2-3% congenital anomalies. All women over age 35 years at delivery should be offered prenatal cytogenetic testing, and women of all ages should be offered maternal serum alpha-fetoprotein screening for neural tube defects. Screening ostensibly normal populations is appropriate in certain ethnic groups to determine heterozygosity for selected disorders: Blacks for sickle-cell anaemia, Mediterranean people for beta-thalassaemia, Southeast Asians and Filipinos for alpha-thalassaemia, Ashkenazi Jews and perhaps French-Canadians for Tay-Sachs disease. Cystic fibrosis screening (delta F508 mutations) is not currently recommended for the general populations, but should be offered to relatives of an individual having delta F508 cystic fibrosis. Irrespective of the extent of screening programmes for Mendelian traits, the mutant allele will remain in the general population because by far the greatest genetic load lies in clinically normal heterozygotes, affected contributing far less to the load despite the obvious clinical effect. PMID:1720071

  9. Imaging findings in fetal diaphragmatic abnormalities.

    Science.gov (United States)

    Alamo, Leonor; Gudinchet, François; Meuli, Reto

    2015-12-01

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. PMID:26255159

  10. Hematological abnormalities in severe anorexia nervosa.

    Science.gov (United States)

    Sabel, Allison L; Gaudiani, Jennifer L; Statland, Barbara; Mehler, Philip S

    2013-05-01

    Little is known about the prevalence of hematologic abnormalities in adults with severe anorexia nervosa. We report the first major analysis of hematologic dysfunction in such patients. We retrospectively analyzed the charts of 53 men and women with severe anorexia nervosa, admitted between October 2008 and December 2010 for medical stabilization to our center, which has a national referral base. Patients were predominantly female (89 %), with a median age of 28 years (range 17-65), and were hospitalized for a median duration of 15 days (I.Q.R. 9-29). Nadir body mass index during hospitalization was markedly low at 12.4 kg/m(2) (range 8.4-15.7), and the mean discharge BMI was 13.8 kg/m(2) (range 10.2-16.8). 83 % of patients were anemic (hematocrit  400 k/μL) during their hospitalization. Eighty-nine percent of patients had resolved their neutropenia by discharge. Marked hematologic deficiencies are often present in patients with severe anorexia nervosa, generally attributed to starvation-mediated gelatinous marrow transformation which resolves with proper nutritional rehabilitation. Improved provider awareness of this association may reduce unnecessary testing and costly treatment interventions.

  11. Abnormal parietal function in conversion paresis.

    Directory of Open Access Journals (Sweden)

    Marije van Beilen

    Full Text Available The etiology of medically unexplained symptoms such as conversion disorder is poorly understood. This is partly because the interpretation of neuroimaging results in conversion paresis has been complicated by the use of different control groups, tasks and statistical comparisons. The present study includes these different aspects in a single data set. In our study we included both normal controls and feigners to control for conversion paresis. We studied both movement execution and imagery, and we contrasted both within-group and between-group activation. Moreover, to reveal hemisphere-specific effects that have not been reported before, we performed these analyses using both flipped and unflipped data. This approach resulted in the identification of abnormal parietal activation which was specific for conversion paresis patients. Patients also showed reduced activity in the prefrontal cortex, supramarginal gyrus and precuneus, including hemisphere-specific activation that is lateralized in the same hemisphere, regardless of right- or left-sided paresis. We propose that these regions are candidates for an interface between psychological mechanisms and disturbed higher-order motor control. Our study presents an integrative neurophysiological view of the mechanisms that contribute to the etiology of this puzzling psychological disorder, which can be further investigated with other types of conversion symptoms.

  12. Behavioral abnormalities in progressive supranuclear palsy.

    Science.gov (United States)

    Gerstenecker, Adam; Duff, Kevin; Mast, Benjamin; Litvan, Irene

    2013-12-30

    Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder in which, classically, patients present with postural instability and falls, parkinsonism, and slowing of vertical saccades. PSP patients typically have deficits in cognitive functioning, difficulties with most daily activities, and present with notable behavioral disturbances-particularly apathy, impulsivity, and irritability. Using data from 154 patients meeting criteria for clinically probable PSP, domain and total scores of the Neuropsychiatric Inventory were examined and compared to demographics, disease severity, cognition, and motor features. Behavioral abnormalities were common in this cohort of PSP patients, with more than half experiencing apathy, depression, and sleeping problems, and approximately one third displaying agitation, irritability, disinhibition, and eating problems. Few clinical correlates of neuropsychiatric symptoms were observed in this cohort. Given the prevalence of neuropsychiatric symptoms in PSP, these patients are expected to be frequently seen by psychiatrists and other mental health professionals for symptom management and increased quality of life. Clinical trials are clearly needed to address the neuropsychiatric morbidity in these patients.

  13. Control of Abnormal Synchronization in Neurological Disorders

    Directory of Open Access Journals (Sweden)

    Oleksandr V. Popovych

    2014-12-01

    Full Text Available In the nervous system synchronization processes play an important role, e.g., in the context of information processing and motor control. However, pathological, excessive synchronization may strongly impair brain function and is a hallmark of several neurological disorders. This focused review addresses the question of how an abnormal neuronal synchronization can specifically be counteracted by invasive and non-invasive brain stimulation as, for instance, by deep brain stimulation for the treatment of Parkinson's disease, or by acoustic stimulation for the treatment of tinnitus. On the example of coordinated reset (CR neuromodulation we illustrate how insights into the dynamics of complex systems contribute to successful model-based approaches, which use methods from synergetics, nonlinear dynamics, and statistical physics, for the development of novel therapies for normalization of brain function and synaptic connectivity. Based on the intrinsic multistability of the neuronal populations induced by spike timing-dependent plasticity (STDP,CR neuromodulation utilizes the mutual interdependence between synaptic connectivity and dynamics of the neuronal networks in order to restore more physiological patterns of connectivity via desynchronization of neuronal activity. The very goal is to shift the neuronal population by stimulation from anabnormally coupled and synchronized state to a desynchronized regime with normalized synaptic connectivity, which significantly outlasts the stimulation cessation, so that long-lasting therapeutic effects can be achieved.

  14. Chromagen lenses and abnormal colour perception

    Directory of Open Access Journals (Sweden)

    O. Matthew Oriowo

    2011-12-01

    Full Text Available Background: The Chromagen lens system comprises of tinted spectacle or contact lenses, each with a specific colour wavelength filter which controls the spectra of the light entering the eye. This study investigated whether spectacle-mounted Chromagen lenses would enhance colour perception in individuals with abnormal colour vision.Methods: The Ishihara colour test was used to test for colour vision deficiency (CVD and also to evaluate the effect of the Chromagen spectacle lens on colour perception in 13 subjects. An Oculus Anomaloscope was used to confirm and sub-classify the types of CVD. Subjects comprised of school age children from the Riyadh area in Saudi Arabia.Results: The distribution amongst the male participants comprised two subjects with protanomaly, two with protanopia, five with deuteranomaly, and two with deuteranopia. Amongst the two female participants, one subject showed deuteranomaly, and one showed protanomaly. Different types of Chromagen spectacle lenses displayed some levels of colour vision enhancement depending on type of CVD.Conclusion: The findings support the notion that chromagen lenses could enhance colour vision perception in some cases of red-green colour vision defects. Clients with CVD should be managed on an individual case basis. (S Afr Optom 2011 70(2 69-74 

  15. Imaging findings in fetal diaphragmatic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor; Gudinchet, Francois [University Hospital Center of Lausanne, Unit of Radiopediatrics, Department of Radiology, Lausanne (Switzerland); Meuli, Reto [University Hospital Center of Lausanne, Department of Radiology, Lausanne (Switzerland)

    2015-12-15

    Imaging plays a key role in the detection of a diaphragmatic pathology in utero. US is the screening method, but MRI is increasingly performed. Congenital diaphragmatic hernia is by far the most often diagnosed diaphragmatic pathology, but unilateral or bilateral eventration or paralysis can also be identified. Extralobar pulmonary sequestration can be located in the diaphragm and, exceptionally, diaphragmatic tumors or secondary infiltration of the diaphragm from tumors originating from an adjacent organ have been observed in utero. Congenital abnormalities of the diaphragm impair normal lung development. Prenatal imaging provides a detailed anatomical evaluation of the fetus and allows volumetric lung measurements. The comparison of these data with those from normal fetuses at the same gestational age provides information about the severity of pulmonary hypoplasia and improves predictions about the fetus's outcome. This information can help doctors and families to make decisions about management during pregnancy and after birth. We describe a wide spectrum of congenital pathologies of the diaphragm and analyze their embryological basis. Moreover, we describe their prenatal imaging findings with emphasis on MR studies, discuss their differential diagnosis and evaluate the limits of imaging methods in predicting postnatal outcome. (orig.)

  16. Brain MRI abnormalities in neuromyelitis optica

    Energy Technology Data Exchange (ETDEWEB)

    Wang Fei, E-mail: feiwang1973@gmail.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Liu Yaou, E-mail: asiaeurope80@gmail.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Duan Yunyun, E-mail: duanyun2003@sohu.com [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Li Kuncheng, E-mail: kunchengli@yahoo.com.cn [Department of Radiology, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China); Education Ministry Key Laboratory for Neurodegenerative Disease, Xuanwu Hospital, Capital University of Medical Sciences, 45 Chang-Chun St, Xuanwu District, Beijing 100053 (China)

    2011-11-15

    Objective: The purpose of this study was to explore brain MRI findings in neuromyelitis optica (NMO) and to investigate specific brain lesions with respect to the localization of aquaporin-4 (AQP-4). Materials and methods: Forty admitted patients (36 women) who satisfied the 2006 criteria of Wingerchuk et al. for NMO were included in this study. All patients received a neurological examination and MRI scanning including brain and spinal cord. MRIs were classified as normal, nonspecific, multiple sclerosis-like, typical abnormalities. MS-like lesions were too few to satisfy the Barkhof et al. criteria for MS. Confluent lesions involving high AQP-4 regions were considered typical. Non-enhancing deep white matter lesions other than MS-like lesions or typical lesions were classified as nonspecific. Results: Brain MRI lesions were delineated in 12 patients (25%). Four patients (10%) had hypothalamus, brainstem or periventricle lesions. Six (15%) patients were nonspecific, and 2 (5%) patients had multiple sclerosis-like lesions. Conclusion: Brain MRIs are negative in most NMO, and brain lesions do not exclude the diagnosis of NMO. Hypothalamus, brainstem or periventricle lesions, corresponding to high sites of AQP-4 in the brain, are indicative of lesions of NMO.

  17. Abnormal high density lipoproteins in cerebrotendinous xanthomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Shore, V. (Lawrence Livermore Lab., CA); Salen, G.; Cheng, F.W.; Forte, T.; Shefer, S.; Tint, G.S.

    1981-11-01

    The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis (CTX). The mean HDL-cholesterol concentration in the CTX plasmas was 14.5 +/- 3.2 mg/dl, about one-third the normal value. The low HDL-cholesterol reflects a low concentration and an abnormal lipid composition of the plasma HDL. Relative to normal HDL, the cholesteryl esters are low, free cholesterol and phospholipids essentially normal, and triglycerides increased. The ratio of apoprotein (apo) to total cholesterol in the HDL of CTX was two to three times greater than normal. In the CTX HDL, the ratio of apoAI to apoAII was high, the proportion of apoC low, and a normally minor form of apoAI increased relative to other forms. The HDL in electron micrographs appeared normal morphologically and in particle size. The adnormalities in lipoprotein distribution profiles and composition of the plasma HDL result from metabolic defects that are not understood but may be linked to the genetic defect in bile acid synthesis in CTX. As a consequence, it is probable that the normal functions of the HDL, possibly including modulation of LDL-cholesterol uptake and the removal of excess cholesterol from peripheral tissues, are perturbed significantly in this disease.

  18. Taurine protects methamphetamine-induced developmental angiogenesis defect through antioxidant mechanism

    Energy Technology Data Exchange (ETDEWEB)

    Shao, Xue; Hu, Zhengtao; Hu, Chunyan; Bu, Qian; Yan, Guangyan [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Deng, Pengchi [Analytical and Testing Center, Sichuan University, Chengdu 610041 (China); Lv, Lei [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Wu, Dan [College of Basic and Forensic Medicine, Sichuan University, Chengdu 610041 (China); Deng, Yi; Zhao, Jinxuan; Zhu, Ruiming; Li, Yan; Li, Hongyu; Xu, Youzhi; Yang, Hanshuo; Zhao, Yinglan [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China); Cen, Xiaobo, E-mail: xbcenalan@vip.sina.com [National Chengdu Center for Safety Evaluation of Drugs, State Key Lab of Biotherapy, West China Hospital, Sichuan University, Chengdu 610041 (China)

    2012-05-01

    Investigations have characterized addictive drug-induced developmental cardiovascular malformation in human, non-human primate and rodent. However, the underlying mechanism of malformation caused by drugs during pregnancy is still largely unknown, and preventive and therapeutic measures have been lacking. Using {sup 1}H NMR spectroscopy, we profiled the metabolites from human embryo endothelial cells exposed to methamphetamine (METH) and quantified a total of 226 peaks. We identified 11 metabolites modified robustly and found that taurine markedly increased. We then validated the hypothesis that this dramatic increase in taurine could attribute to its effect in inhibiting METH-induced developmental angiogenesis defect. Taurine supplement showed a more significant potential than other metabolites in protecting against METH-induced injury in endothelial cells. Taurine strongly attenuated METH-induced inhibition of proliferation and migration in endothelial cells. Furthermore, death rate and vessel abnormality of zebrafish embryos treated with METH were greatly reversed by taurine. In addition, taurine supplement caused a rapid decrease in reactive oxygen species generation and strongly attenuated the excitable arise of antioxidase activities in the beginning of METH exposure prophase. Dysregulations of NF-κB, p-ERK as well as Bax, which reflect apoptosis, cell cycle arrest and oxidative stress in vascular endothelium, were blocked by taurine. Our results provide the first evidence that taurine prevents METH-caused developmental angiogenesis defect through antioxidant mechanism. Taurine could serve as a potential therapeutic or preventive intervention of developmental vascular malformation for the pregnant women with drug use. Highlights: ► Metabonomics findings. ► Abnormal development. ► Dysregulations of key proteins.

  19. A mechanical model predicts morphological abnormalities in the developing human brain

    Science.gov (United States)

    Budday, Silvia; Raybaud, Charles; Kuhl, Ellen

    2014-07-01

    The developing human brain remains one of the few unsolved mysteries of science. Advancements in developmental biology, neuroscience, and medical imaging have brought us closer than ever to understand brain development in health and disease. However, the precise role of mechanics throughout this process remains underestimated and poorly understood. Here we show that mechanical stretch plays a crucial role in brain development. Using the nonlinear field theories of mechanics supplemented by the theory of finite growth, we model the human brain as a living system with a morphogenetically growing outer surface and a stretch-driven growing inner core. This approach seamlessly integrates the two popular but competing hypotheses for cortical folding: axonal tension and differential growth. We calibrate our model using magnetic resonance images from very preterm neonates. Our model predicts that deviations in cortical growth and thickness induce morphological abnormalities. Using the gyrification index, the ratio between the total and exposed surface area, we demonstrate that these abnormalities agree with the classical pathologies of lissencephaly and polymicrogyria. Understanding the mechanisms of cortical folding in the developing human brain has direct implications in the diagnostics and treatment of neurological disorders, including epilepsy, schizophrenia, and autism.

  20. Expression of a begomoviral DNAβ gene in transgenic Nicotiana plants induced abnormal cell division

    Institute of Scientific and Technical Information of China (English)

    CUI Xiao-feng; LI Yun-qin; HU Dong-wei; ZHOU Xue-ping

    2005-01-01

    An increasing number of monopartite begomoviruses are being identified that a satellite molecule (DNAβ) is required to induce typical symptoms in host plants. DNAβ encodes a single gene (termed βC1) encoded in the complementary-sense. We have produced transgenic Nicotiana benthamiana and N. tabacum plants expressing theβC1 gene of a DNAβ associated with Tomato yellow leaf curl China virus (TYLCCNV), under the control of the Cauliflower mosaic virus 35S promoter. Transgenic plants expressing βC1 showed severe developmental abnormalities in both species. Microscopic analysis of sections of both transgenic and non-transgenic N. tabacum leaves showed abnormal outgrowths of transgenic N. tabacum to be due to disorganized cell division (hyperplasia) of spongy and palisade parenchyma. Immuno-gold labeling of sections with a polyclonal antibody against the βC1 protein showed that the βC1 protein accumulated in the nuclei of cells. The possible biological function of the βC1 protein was discussed.

  1. Exclusion of COL2A1 and VDR as Developmental Dysplasia of the Hip Genes

    OpenAIRE

    Rubini, Michele; Cavallaro, Alessandra; Calzolari, Elisa; Bighetti, Giulia; Sollazzo, Vincenzo

    2008-01-01

    Developmental dysplasia of the hip (DDH) is a spectrum of disorders affecting the proximal femur and/or acetabulum leading to an abnormal formation of the hip. Genetic factors are involved in the etiology of DDH. Early recognition of DDH affords the best results from treatment and a better knowledge of the genetics of DDH could enhance early diagnosis. Variants in the Type II collagen (COL2A1) and vitamin D receptor (VDR) genes have been associated with patients with osteoarthritis of the hip...

  2. Proximal trisomy 1q in a girl with developmental delay and minor anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Furforo, L. [Hospital Materno Infantil Ramon Sarda, Buenos Aires (Argentina)]|[Instituto Nacional de Genetica Medica, Buenos Aires (Argentina); Rittler, M. [Hospital Materno Infantil Ramon Sarda, Buenos Aires (Argentina); Slavutsky, I.R. [Academia Nacional de Medicina, Buenos Aires (Argentina)

    1996-09-06

    We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12{r_arrow}q21.3). This abnormality was suggested by G-and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication. 12 refs., 4 figs., 1 tab.

  3. Developmental defects in a Caenorhabditis elegans model for type III galactosemia.

    Science.gov (United States)

    Brokate-Llanos, Ana M; Monje, José M; Murdoch, Piedad Del Socorro; Muñoz, Manuel J

    2014-12-01

    Type III galactosemia is a metabolic disorder caused by reduced activity of UDP-galactose-4-epimerase, which participates in galactose metabolism and the generation of various UDP-sugar species. We characterized gale-1 in Caenorhabditis elegans and found that a complete loss-of-function mutation is lethal, as has been hypothesized for humans, whereas a nonlethal partial loss-of-function allele causes a variety of developmental abnormalities, likely resulting from the impairment of the glycosylation process. We also observed that gale-1 mutants are hypersensitive to galactose as well as to infections. Interestingly, we found interactions between gale-1 and the unfolded protein response. PMID:25298520

  4. Developmental Venous Anomaly With Asymmetrical Basal Ganglia Calcification: Two Case Reports and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sarp

    2015-07-01

    Full Text Available Developmental venous anomaly (DVA is a common lesion formerly known as venous angioma. DVAs drain normal brain parenchyma; however, parenchymal abnormalities surrounding DVAs have been reported. Unilateral putamen and caudate calcification in the drainage territory of DVAs has so far been reported in 7 cases, all with deep venous drainage. We present two additional cases of DVAs, one with superficial and the other one with deep venous drainage, associated with basal ganglia calcifications. We emphasize that DVAs should be in the differential diagnosis of unilateral basal ganglia calcifications.

  5. Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report

    Directory of Open Access Journals (Sweden)

    Zafer Dogan

    2014-06-01

    Full Text Available Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited. A management of a developmental dislocation of the hip was described in a patient with fanconi anemia. Because of the heterogeneous nature, a patient with fanconi anemia should be established thorough preoperative evaluation in order to diagnose on clinical features. In conclusion, we preferred caudal anesthesia in this patient with fanconi anemia without thrombocytopenia, because of avoiding from N2O, reducing amount of anesthetic, existing microcephaly, hypothyroidism and elevated liver enzymes, providing postoperative analgesia, and reducing amount of analgesic used postoperatively.

  6. Establishment of Short-Term Teratogenicity Study for Detecting Developmental Toxicity Induced by Gamma Radiation

    International Nuclear Information System (INIS)

    The present study was carried out to establish a short-term teratogenicity study for detecting developmental toxic potential induced by gamma radiation in ICR mice. Pregnant mice were exposed at dose levels of 0, 0.5, 1, 2, or 4 Gy on gestational day 8.5. All dams were subjected to caesarean section on gestational day 10.5 and their embryos were examined for growth, differentiation, and morphological abnormalities. An increase in the number of resorption was found at 4 Gy in a dose-dependent manner

  7. Silver nanoparticles induce developmental stage-specific embryonic phenotypes in zebrafish

    Science.gov (United States)

    Lee, Kerry J.; Browning, Lauren M.; Nallathamby, Prakash D.; Osgood, Christopher J.; Xu, Xiao-Hong Nancy

    2013-11-01

    Much is anticipated from the development and deployment of nanomaterials in biological organisms, but concerns remain regarding their biocompatibility and target specificity. Here we report our study of the transport, biocompatibility and toxicity of purified and stable silver nanoparticles (Ag NPs, 13.1 +/- 2.5 nm in diameter) upon the specific developmental stages of zebrafish embryos using single NP plasmonic spectroscopy. We find that single Ag NPs passively diffuse into five different developmental stages of embryos (cleavage, early-gastrula, early-segmentation, late-segmentation, and hatching stages), showing stage-independent diffusion modes and diffusion coefficients. Notably, the Ag NPs induce distinctive stage and dose-dependent phenotypes and nanotoxicity, upon their acute exposure to the Ag NPs (0-0.7 nM) for only 2 h. The late-segmentation embryos are most sensitive to the NPs with the lowest critical concentration (CNP,c cardiac abnormalities, followed by early-segmentation embryos (CNP,c causes the most toxic effects on embryonic development. The cleavage-stage embryos treated with the NPs develop into a wide variety of phenotypes (abnormal finfold, tail/spinal cord flexure, cardiac malformation/edema, yolk sac edema, and acephaly). These organ structures are not yet developed in cleavage-stage embryos, suggesting that the earliest determinative events to create these structures are ongoing, and disrupted by NPs, which leads to the downstream effects. In contrast, the hatching embryos are most resistant to the Ag NPs, and majority of embryos (94%) develop normally, and none of them develop abnormally. Interestingly, early-gastrula embryos are less sensitive to the NPs than cleavage and segmentation stage embryos, and do not develop abnormally. These important findings suggest that the Ag NPs are not simple poisons, and they can target specific pathways in development, and potentially enable target specific study and therapy for early embryonic

  8. Specific Developmental Disorders of Scholastic Skills

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2015-07-01

    Full Text Available Several factors contribute to scholastic backwardness in children. Causes include specific developmental disorders of scholastic skills, low intelligence, chronic illnesses, family dysfunction, social problems, attention deficits, and emotional disorders. Children with specific developmental disorders of scholastic skills experience significant impairment in the acquisition of reading, writing and mathematical skills. If not remedied at the earliest, these children are at risk of developing severe stress related disorders. There is high comorbidity of behaviour disorders and emotional disorders in these children. Hence early intensive remedial education is essential in the management of children with specific developmental disorders of scholastic skills.

  9. Repetitive grooming and sensorimotor abnormalities in an ephrin-A knockout model for Autism Spectrum Disorders

    Science.gov (United States)

    Wurzman, Rachel; Forcelli, Patrick A.; Griffey, Christopher J.; Kromer, Lawrence F.

    2014-01-01

    EphA receptors and ephrin-A ligands play important roles in neural development and synaptic plasticity in brain regions where expression persists into adulthood. Recently, EPHA3 and EPHA7 gene mutations were linked with Autism Spectrum Disorders (ASDs) and developmental neurological delays, respectively. Furthermore, deletions of ephrin-A2 or ephrin-A3, which exhibit high binding affinity for EphA3 and EphA7 receptors, are associated with subtle deficits in learning and memory behavior and abnormalities in dendritic spine morphology in the cortex and hippocampus in mice. To better characterize a potential role for these ligands in ASDs, we performed a comprehensive behavioral characterization of anxiety-like, sensorimotor, learning, and social behaviors in ephrin-A2/-A3 double knockout (DKO) mice. The predominant phenotype in DKO mice was repetitive and self-injurious grooming behaviors such as have been associated with corticostriatal circuit abnormalities in other rodent models of neuropsychiatric disorders. Consistent with ASDs specifically, DKO mice exhibited decreased preference for social interaction in the social approach assay, decreased locomotor activity in the open field, increased prepulse inhibition of acoustic startle, and a shift towards self-directed activity (e.g., grooming) in novel environments, such as marble burying. Although there were no gross deficits in cognitive assays, subtle differences in performance on fear conditioning and in the Morris water maze resembled traits observed in other rodent models of ASD. We therefore conclude that ephrin-A2/-A3 DKO mice have utility as a novel ASD model with an emphasis on sensory abnormalities and restricted, repetitive behavioral symptoms. PMID:25281279

  10. Repetitive grooming and sensorimotor abnormalities in an ephrin-A knockout model for Autism Spectrum Disorders.

    Science.gov (United States)

    Wurzman, Rachel; Forcelli, Patrick A; Griffey, Christopher J; Kromer, Lawrence F

    2015-02-01

    EphA receptors and ephrin-A ligands play important roles in neural development and synaptic plasticity in brain regions where expression persists into adulthood. Recently, EPHA3 and EPHA7 gene mutations were linked with Autism Spectrum Disorders (ASDs) and developmental neurological delays, respectively. Furthermore, deletions of ephrin-A2 or ephrin-A3, which exhibit high binding affinity for EphA3 and EphA7 receptors, are associated with subtle deficits in learning and memory behavior and abnormalities in dendritic spine morphology in the cortex and hippocampus in mice. To better characterize a potential role for these ligands in ASDs, we performed a comprehensive behavioral characterization of anxiety-like, sensorimotor, learning, and social behaviors in ephrin-A2/-A3 double knockout (DKO) mice. The predominant phenotype in DKO mice was repetitive and self-injurious grooming behaviors such as have been associated with corticostriatal circuit abnormalities in other rodent models of neuropsychiatric disorders. Consistent with ASDs specifically, DKO mice exhibited decreased preference for social interaction in the social approach assay, decreased locomotor activity in the open field, increased prepulse inhibition of acoustic startle, and a shift towards self-directed activity (e.g., grooming) in novel environments, such as marble burying. Although there were no gross deficits in cognitive assays, subtle differences in performance on fear conditioning and in the Morris water maze resembled traits observed in other rodent models of ASD. We therefore conclude that ephrin-A2/-A3 DKO mice have utility as a novel ASD model with an emphasis on sensory abnormalities and restricted, repetitive behavioral symptoms.

  11. Thicker temporal cortex associates with a developmental trajectory for psychopathic traits in adolescents.

    Directory of Open Access Journals (Sweden)

    Yaling Yang

    Full Text Available Psychopathy is a clinical condition characterized by a failure in normal social interaction and morality. Recent studies have begun to reveal brain structural abnormalities associated with psychopathic tendencies in children. However, little is known about whether variations in brain morphology are linked to the developmental trajectory of psychopathic traits over time. In this study, structural magnetic resonance imaging (sMRI data from 108 14-year-old adolescents with no history of substance abuse (54 males and 54 females were examined to detect cortical thickness variations associated with psychopathic traits and individual rates of change in psychopathic traits from ages 9 to 18. We found cortical thickness abnormalities to correlate with psychopathic traits both cross-sectionally and longitudinally. Specifically, at age 14, higher psychopathic scores were correlated with thinner cortex in the middle frontal gyrus, particularly in females, and thicker cortex in the superior temporal gyrus, middle temporal gyrus, and parahippocampal gyrus, particularly in males. Longitudinally, individual rates of change in psychopathic tendency over time were correlated with thicker cortex in the superior temporal gyrus, middle temporal gyrus, inferior temporal gyrus, parahippocampal gyrus, and posterior cingulate gyrus, particularly in males. Findings suggest that abnormal cortical thickness may reflect a delay in brain maturation, resulting in disturbances in frontal and temporal functioning such as impulsivity, sensation-seeking, and emotional dysregulation in adolescents. Thus, findings provide initial evidence supporting that abnormal cortical thickness may serve as a biomarker for the development of psychopathic propensity in adolescents.

  12. Executive Functions in Developmental Dyslexia

    Directory of Open Access Journals (Sweden)

    Pamela eVarvara

    2014-03-01

    Full Text Available The present study was aimed at investigating different aspects of Executive Functions (EF in children with Developmental Dyslexia (DD.A neuropsychological battery tapping verbal fluency, spoonerism, attention, verbal shifting, short-term and working memory was used to assess 60 children with DD and 65 with typical reading abilities.Compared to their controls, children with DD showed deficits in several EF domains such as verbal categorical and phonological fluency, visual-spatial and auditory attention, spoonerism, verbal and visual short-term memory, and verbal working memory. Moreover, exploring predictive relationships between EF measures and reading, we found that spoonerism abilities better explained word and non-word reading deficits. Although to a lesser extent, auditory and visual-spatial attention also explained the increased percentage of variance related to reading deficit.EF deficits found in DD are interpreted as an expression of a deficient functioning of the Central Executive System and are discussed in the context of the recent temporal sampling theory.

  13. DEVELOPMENTAL COORDINATION DISORDER IN CHILDREN

    Directory of Open Access Journals (Sweden)

    Saeideh MIRAFKHAMI

    2010-03-01

    Full Text Available ObjectiveIn this article, a motor skill disorder called developmental coordination disorder (DCD, that is usually first diagnosed during childhood, is explained and discussed. In the year 1987, DCD was formally recognized as a distinct disorder in children by the American Psychiatric Association (APA. DCD is a generalized term for the children who have some degrees of impairment in the development of motor coordination and therefore have difficulties with physical skills which significantly interfere with their academic achievements and /or performing everyday activities. As they develop, other age-related tasks are also below average. Because these impairment & conditions are often associated with emotional distress, they can seriously interfere with the person's everyday life and social relationships. Reviews indicate that most of the training rocedures have only a limited effect on the development of general coordination, and that they have no effect at all on academic progress.This includes approaches based on assumed underlying deficiencies such as sensory integration deficits and kinesthetic functioning deficits, as well as the more traditional perceptual - motor training. One new approach is Cognitive Orientation to daily Occupational Performance (CO-OP, based on problem - solving strategies and guided discovery of the child and task specific strategies. The aim of this article was to inform, promote and disseminate more information about some difficulties in applying the diagnostic criteria for DCD. Also, a brief review of the researches on the intervention methods is presented.

  14. Executive function abnormalities in pathological gamblers

    Directory of Open Access Journals (Sweden)

    Mungai Francesco

    2008-03-01

    Full Text Available Abstract Background Pathological gambling (PG is an impulse control disorder characterized by persistent and maladaptive gambling behaviors with disruptive consequences for familial, occupational and social functions. The pathophysiology of PG is still unclear, but it is hypothesized that it might include environmental factors coupled with a genetic vulnerability and dysfunctions of different neurotransmitters and selected brain areas. Our study aimed to evaluate a group of patients suffering from PG by means of some neuropsychological tests in order to explore the brain areas related to the disorder. Methods Twenty outpatients (15 men, 5 women, with a diagnosis of PG according to DSM-IV criteria, were included in the study and evaluated with a battery of neuropsychological tests: the Wisconsin Card Sorting Test (WCST, the Wechsler Memory Scale revised (WMS-R and the Verbal Associative Fluency Test (FAS. The results obtained in the patients were compared with normative values of matched healthy control subjects. Results The PG patients showed alterations at the WCST only, in particular they had a great difficulty in finding alternative methods of problem-solving and showed a decrease, rather than an increase, in efficiency, as they progressed through the consecutive phases of the test. The mean scores of the other tests were within the normal range. Conclusion Our findings showed that patients affected by PG, in spite of normal intellectual, linguistic and visual-spatial abilities, had abnormalities emerging from the WCST, in particular they could not learn from their mistakes and look for alternative solutions. Our results would seem to confirm an altered functioning of the prefrontal areas which might provoke a sort of cognitive "rigidity" that might predispose to the development of impulsive and/or compulsive behaviors, such as those typical of PG.

  15. ADEPT - Abnormal Doppler Enteral Prescription Trial

    Directory of Open Access Journals (Sweden)

    McCormick Kenny

    2009-10-01

    Full Text Available Abstract Background Pregnancies complicated by abnormal umbilical artery Doppler blood flow patterns often result in the baby being born both preterm and growth-restricted. These babies are at high risk of milk intolerance and necrotising enterocolitis, as well as post-natal growth failure, and there is no clinical consensus about how best to feed them. Policies of both early milk feeding and late milk feeding are widely used. This randomised controlled trial aims to determine whether a policy of early initiation of milk feeds is beneficial compared with late initiation. Optimising neonatal feeding for this group of babies may have long-term health implications and if either of these policies is shown to be beneficial it can be immediately adopted into clinical practice. Methods and Design Babies with gestational age below 35 weeks, and with birth weight below 10th centile for gestational age, will be randomly allocated to an "early" or "late" enteral feeding regimen, commencing milk feeds on day 2 and day 6 after birth, respectively. Feeds will be gradually increased over 9-13 days (depending on gestational age using a schedule derived from those used in hospitals in the Eastern and South Western Regions of England, based on surveys of feeding practice. Primary outcome measures are time to establish full enteral feeding and necrotising enterocolitis; secondary outcomes include sepsis and growth. The target sample size is 400 babies. This sample size is large enough to detect a clinically meaningful difference of 3 days in time to establish full enteral feeds between the two feeding policies, with 90% power and a 5% 2-sided significance level. Initial recruitment period was 24 months, subsequently extended to 38 months. Discussion There is limited evidence from randomised controlled trials on which to base decisions regarding feeding policy in high risk preterm infants. This multicentre trial will help to guide clinical practice and may also

  16. Management of abnormal radioactive wastes at nuclear power plants

    International Nuclear Information System (INIS)

    As with any other industrial activity, a certain level of risk is associated with the operation of nuclear power plants and other nuclear facilities. That is, on occasions nuclear power plants or nuclear facilities may operate under conditions which were not specifically anticipated during the design and construction of the plant. These abnormal conditions and situations may cause the production of abnormal waste, which can differ in character or quantity from waste produced during normal routine operation of nuclear facilities. Abnormal waste can also occur during decontamination programmes, replacement of a reactor component, de-sludging of storage ponds, etc. The management of such kinds of waste involves the need to evaluate existing waste management systems in order to determine how abnormal wastes should best be handled and processed. There are no known publications on this subject, and the IAEA believes that the development and exchange of such information among its Member States would be useful for specialists working in the waste management area. The main objective of this report is to review existing waste management practices which can be applied to abnormal waste and provide assistance in the selection of appropriate technologies and processes that can be used when abnormal situations occur. Naturally, the subject of abnormal waste is complex and this report can only be considered as a guide for the management of abnormal waste. Refs, figs and tabs.

  17. Abnormal glomerular basement membrane in idiopathic multicentric osteolysis

    NARCIS (Netherlands)

    Bakker, SJL; Vos, GD; Verschure, PDMM; Mulder, AH; Tiebosch, TMG

    1996-01-01

    The primary cause of nephropathy in idiopathic multicentric osteolysis is as yet unknown. We report a young girl with idiopathic multicentric osteolysis and nephropathy. An abnormal glomerular basement membrane was the only abnormality found in a renal biopsy taken 2 years before the development of

  18. Freud Was Right. . . about the Origins of Abnormal Behavior

    Science.gov (United States)

    Muris, Peter

    2006-01-01

    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  19. Visualizing how cancer chromosome abnormalities form in living cells

    Science.gov (United States)

    For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells. The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attac

  20. A Case of ADHD and a Major Y Chromosome Abnormality

    Science.gov (United States)

    Mulligan, Aisling; Gill, Michael; Fitzgerald, Michael

    2008-01-01

    Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm.…

  1. 21 CFR 864.7415 - Abnormal hemoglobin assay.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Abnormal hemoglobin assay. 864.7415 Section 864.7415 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED... hemoglobin assay. (a) Identification. An abnormal hemoglobin assay is a device consisting of the...

  2. Abnormal Spatial Asymmetry of Selective Attention in ADHD

    Science.gov (United States)

    Chan, Edgar; Mattingley, Jason B.; Huang-Pollock, Cynthia; English, Therese; Hester, Robert; Vance, Alasdair; Bellgrove, Mark A.

    2009-01-01

    Background: Evidence for a selective attention abnormality in children with attention deficit hyperactivity disorder (ADHD) has been hard to identify using conventional methods from cognitive science. This study tested whether the presence of selective attention abnormalities in ADHD may vary as a function of perceptual load and target…

  3. Developmental Writing Disorders and Their Prevention

    Science.gov (United States)

    Lebrun, Yvan; Van De Craen, Piet

    1975-01-01

    Examination of children with developmental dsygraphia (inability to write) suggests the need to instruct young children in the basic principles of the writing process including phonemic analysis, transcription rules, morphemic analysis, script, and style. (DB)

  4. Developmental and Reproductive Toxicology Database (DART)

    Data.gov (United States)

    U.S. Department of Health & Human Services — A bibliographic database on the National Library of Medicine's (NLM) Toxicology Data Network (TOXNET) with references to developmental and reproductive toxicology...

  5. Developmental Norms for the Sentence Repetition Test.

    Science.gov (United States)

    Carmichael, John A.; MacDonald, John W.

    1984-01-01

    Obtained developmental norms for the Sentence Repetition Test from children (N=1,081) ranging in age from three to 13 years. Utilized a substanially larger number of children in each age group than previous reports. (Author/LLL)

  6. EVALUATION OF POTENTIAL DEVELOPMENTAL NEUROTOXICITY OF ORGANOTINS.

    Science.gov (United States)

    Organotins, including monomethyltin (MMT), dimethyltin (DMT), and dibutyltin (DBT), are widely used as heat stabilizers in PVC and CPVC piping, which results in their presence in drinking water supplies. Concern for developmental neurotoxic effects were raised by published findi...

  7. Automatic Medical Image Classification and Abnormality Detection Using KNearest Neighbour

    Directory of Open Access Journals (Sweden)

    Dr. R. J. Ramteke , Khachane Monali Y.

    2012-12-01

    Full Text Available This research work presents a method for automatic classification of medical images in two classes Normal and Abnormal based on image features and automatic abnormality detection. Our proposed system consists of four phases Preprocessing, Feature extraction, Classification, and Post processing. Statistical texture feature set is derived from normal and abnormal images. We used the KNN classifier for classifying image. The KNN classifier performance compared with kernel based SVM classifier (Linear and RBF. The confusion matrix computed and result shows that KNN obtain 80% classification rate which is more than SVM classification rate. So we choose KNN algorithm for classification of images. If image classified as abnormal then post processing step applied on the image and abnormal region is highlighted on the image. The system has been tested on the number of real CT scan brain images.

  8. Report to Congress on abnormal occurrences, April--June 1977

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event which the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report, the ninth in the series, covers the period from April 1 to June 30, 1977. The NRC has determined that during this period: there were two abnormal occurrences at the 64 nuclear power plants licensed to operate, one involved a breach of a plant's physical security system and the other involved degraded fuel rods; there were no abnormal occurrences at fuel cycle facilities (other than nuclear power plants); and there were two abnormal occurrences at other licensee facilities, one involved improper radioactive source handling procedures and the other involved overexposure of two radiographers. Information updating previously reported abnormal occurrences is also included

  9. Report to Congress on abnormal occurrences, April--June 1988

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event which the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from April 1 to June 30, 1988. For this reporting period, there were no abnormal occurrences at nuclear power plants licensed to operate. There were two abnormal occurrences at other NRC licensees: a significant breakdown in management and procedural controls at a medical facility and a medical diagnostic misadministration. There was one abnormal occurrence reported by an Agreement State (Texas) involving radioactive material released during a transportation accident. The report also contains information updating some previously reported abnormal occurrences

  10. Abnormal Structure of Embryo Sac in Autotetraploid Rice

    Institute of Scientific and Technical Information of China (English)

    GUO Hai-bin; FENG Jiu-huan; LU Yong-gen; LIU Xiang-dong

    2006-01-01

    The structures of mature embryo sacs in 13 genetic stock lines of autotetraploid rice (Oryza sativa L.), including indica,japonica and javanica, were studied by using the whole-mount stain-clearing laser scanning confocal microscopy (WCLSM).Among the 13 autotetrapioid rice, the majority of ovaries possess normal polygonum-type embryo sacs, while a few ovaries were characterized by abnormal embryo sacs. The abnormalities of embryo sacs could be classified into six categories, i. e. no female The frequency of abnormal embryo sac in japonica (26.6%) was higher than that in indica (19.34%). In addition, the major abnormalities in each autotetraploid line varied, suggesting that the abnormalities may be related to the genotypes of the varieties.

  11. Amniotic fluid deficiency and congenital abnormalities both influence fluctuating asymmetry in developing limbs of human deceased fetuses.

    Directory of Open Access Journals (Sweden)

    Clara Mariquita Antoinette ten Broek

    Full Text Available Fluctuating asymmetry (FA, as an indirect measure of developmental instability (DI, has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown. One aspect that has received relatively little attention in the literature is the consequence of direct mechanical effects on asymmetries. The crucial prerequisite for FA to reflect DI is that environmental conditions on both sides should be identical. This condition may be violated during early human development if amniotic fluid volume is deficient, as the resulting mechanical pressures may increase asymmetries. Indeed, we showed that limb bones of deceased human fetuses exhibited increased asymmetry, when there was not sufficient amniotic fluid (and, thus, space in the uterine cavity. As amniotic fluid deficiency is known to cause substantial asymmetries and abnormal limb development, these subtle asymmetries are probably at least in part caused by the mechanical pressures. On the other hand, deficiencies in amniotic fluid volume are known to be associated with other congenital abnormalities that may disturb DI. More specifically, urogenital abnormalities can directly affect/reduce amniotic fluid volume. We disentangled the direct mechanical effects on FA from the indirect effects of urogenital abnormalities, the latter presumably representing DI. We discovered that both factors contributed significantly to the increase in FA. However, the direct mechanical effect of uterine pressure, albeit statistically significant, appeared less important than the effects of urogenital abnormalities, with an effect size only two-third as large. We, thus, conclude that correcting for the relevant direct factors allowed for a representative test of the association between DI and stress, and confirmed that fetuses form a suitable model system to increase our understanding in patterns of FA and symmetry development.

  12. Developmental Regimes in Africa synthesis report

    OpenAIRE

    Booth, D.; Dietz, A.J.; Golooba-Mutebi, F.; Fuady, A.H.; Henley, D; Kelsall, T.; Leliveld, A.H.M.; Donge, van, J.K.

    2015-01-01

    Many African countries have experienced sustained economic growth, but few have achieved the type of structural change, driven by rising productivity, that has transformed mass living standards in parts of Asia. In the Developmental Regimes in Africa Synthesis Report, editor David Booth examines how DRA research has shed new light on how developmental regimes might emerge and be sustained in Africa in the 21st century. He outlines a concept with defining features at three levels: policy conte...

  13. The Concept of Development in Developmental Psychopathology

    OpenAIRE

    Sroufe, L. Alan

    2009-01-01

    So important is the perspective of development for understanding psychopathology that it spawned a new discipline—“developmental psychopathology”—which has seen remarkable advances since its introduction,, but has yet to completely fulfill its promise. To do this requires maintaining a thoroughgoing developmental perspective. When we take development seriously, there are implications for how we understand psychopathology, describe and conceptualize the origins and course of disorder, and inte...

  14. The mechanism of Abnormal Savda Munziq for the treatment of Abnormal Savda Syndrome in Greek-Uighur medicine:a systematic review

    Institute of Scientific and Technical Information of China (English)

    Mikhail Baranov; Dubrovin Denis; Igor Gogol; Nurmuhammat Amat; Halmurat Upur

    2013-01-01

    Abnormal Savda Munziq is a well-known complex prescription of TUM for adjust and regulate Abnormal Savda, and widely used in the prevention and treatment of many chronic diseases such as cancer, hypertension, diabetes mellitus, and memory dysfunction, the diseases which are associated with Abnormal Savda and whose symptomatic expression is known as abnormal Savda Syndrome. In this review, we discuss the possible mechanism of Abnormal Savda Munziq for the treatment of Abnormal Savda Syndrome.

  15. Electrocardiogram Abnormalities and Coronary Calcification in Postmenopausal Women

    Directory of Open Access Journals (Sweden)

    Michiel Bots

    2010-02-01

    Full Text Available Background: An electrocardiogram (ECG can provide information on subclinical myocardial damage. The presence,and more importantly, the quantity of coronary artery calcification (CAC, relates well with the overall severity of the atherosclerotic process. A strong relation has been demonstrated between coronary calcium burden and the incidence of myocardial infarction, a relation independent of age. The aim of this study was to assess the relation of left ventricular hypertrophy (LVH and ECG abnormalities with CAC.Methods: The study population comprised 566 postmenopausal women selected from a population-based cohort study.Information on LVH and repolarization abnormalities (T-axis and QRS-T angle was obtained using electrocardiography.Modular ECG Analysis System (MEANS was used to assess ECG abnormalities. The women underwent a multi detectorrow computed tomography (MDCT scan (Philips Mx 8000 IDT 16 to assess CAC. The Agatston score was used to quantifyCAC; scores greater than zero were considered as the presence of coronary calcium. Logistic regression was used to assessthe relation of ECG abnormality with coronary calcification.Results: LVH was found in 2.7% (n = 15 of the women. The prevalence of T-axis abnormality was 6% (n = 34, whereas 8.5% (n = 48 had a QRS-T angle abnormality. CAC was found in 62% of the women. Compared to women with a normal T-axis, women with borderline or abnormal T-axes were 3.8 fold more likely to have CAC (95% CI: 1.4-10.2. Similarly,compared to women with a normal QRS-T angle, in women with borderline or abnormal QRS-T angle, CAC was 2.0 fold more likely to be present (95% CI: 1.0-4.1.Conclusion: Among women with ECG abnormalities reflecting subclinical ischemia, CAC is commonly found and may in part explain the increased coronary heart disease risk associated with these ECG abnormalities.

  16. Phonemic restoration in developmental dyslexia

    Directory of Open Access Journals (Sweden)

    Stephanie N. Del Tufo

    2014-06-01

    Full Text Available The comprehension of fluent speech in one’s native language requires that listeners integrate the detailed acoustic-phonetic information available in the sound signal with linguistic knowledge. This interplay is especially apparent in the phoneme restoration effect, a phenomenon in which a missing phoneme is ‘restored’ via the influence of top-down information from the lexicon and through bottom-up acoustic processing. Developmental dyslexia is a disorder characterized by an inability to read at the level of one’s peers without any clear failure due to environmental influences. In the current study we utilized the phonemic restoration illusion paradigm, to examine individual differences in phonemic restoration across a range of reading ability, from very good to dyslexic readers. Results demonstrate that restoration occurs less in those who have high scores on measures of phonological processing. Based on these results, we suggest that the processing or representation of acoustic detail may not be as reliable in poor and dyslexic readers, with the result that lexical information is more likely to override acoustic properties of the stimuli. This pattern of increased restoration could result from a failure of perceptual tuning, in which unstable representations of speech sounds result in the acceptance of non-speech sounds as speech. An additional or alternative theory is that degraded or impaired phonological processing at the speech sound level may reflect architecture that is overly plastic and consequently fails to stabilize appropriately for speech sound representations. Therefore the inability to separate speech and noise may result as a deficit in separating noise from the acoustic signal.

  17. Phonemic restoration in developmental dyslexia.

    Science.gov (United States)

    Del Tufo, Stephanie N; Myers, Emily B

    2014-01-01

    The comprehension of fluent speech in one's native language requires that listeners integrate the detailed acoustic-phonetic information available in the sound signal with linguistic knowledge. This interplay is especially apparent in the phoneme restoration effect, a phenomenon in which a missing phoneme is "restored" via the influence of top-down information from the lexicon and through bottom-up acoustic processing. Developmental dyslexia is a disorder characterized by an inability to read at the level of one's peers without any clear failure due to environmental influences. In the current study we utilized the phonemic restoration illusion paradigm to examine individual differences in phonemic restoration across a range of reading ability, from very good to dyslexic readers. Results demonstrate that restoration occurs less in those who have high scores on measures of phonological processing. Based on these results, we suggest that the processing or representation of acoustic detail may not be as reliable in poor and dyslexic readers, with the result that lexical information is more likely to override acoustic properties of the stimuli. This pattern of increased restoration could result from a failure of perceptual tuning, in which unstable representations of speech sounds result in the acceptance of non-speech sounds as speech. An additional or alternative theory is that degraded or impaired phonological processing at the speech sound level may reflect architecture that is overly plastic and consequently fails to stabilize appropriately for speech sound representations. Therefore, the inability to separate speech and noise may result as a deficit in separating noise from the acoustic signal. PMID:24926230

  18. Myocardial bioenergetic abnormalities in experimental uremia

    Directory of Open Access Journals (Sweden)

    Chesser AMS

    2016-05-01

    Full Text Available Alistair MS Chesser,1 Steven M Harwood,2 Martin J Raftery,1 Muhammad M Yaqoob1,2 1Department of Nephrology, Barts Health NHS Trust, Royal London Hospital, 2Translational Medicine and Therapeutics, William Harvey Research Institute, John Vane Science Centre, Queen Mary University of London, London, UK Purpose: Cardiac bioenergetics are known to be abnormal in experimental uremia as exemplified by a reduced phosphocreatine (PCr/adenosine triphosphate (ATP ratio. However, the progression of these bioenergetic changes during the development of uremia still requires further study and was therefore investigated at baseline, 4 weeks and 8 weeks after partial nephrectomy (PNx. Methods: A two-stage PNx uremia model in male Wistar rats was used to explore in vivo cardiac and skeletal muscles' bioenergetic changes over time. High-energy phosphate nucleotides were determined by phosphorus-31 nuclear magnetic resonance (31P-NMR and capillary zone electrophoresis. Results: 31P-NMR spectroscopy revealed lower PCr/ATP ratios in PNx hearts compared to sham (SH-operated animals 4 weeks after PNx (median values given ± SD, 0.64±0.16 PNx, 1.13±0.31 SH, P<0.02. However, 8 weeks after PNx, the same ratio was more comparable between the two groups (0.84±0.15 PNx, 1.04±0.44 SH, P= not significant, suggestive of an adaptive mechanism. When 8-week hearts were prestressed with dobutamine, the PCr/ATP ratio was again lower in the PNx group (1.08±0.36 PNx, 1.55±0.38 SH, P<0.02, indicating a reduced energy reserve during the progression of uremic heart disease. 31P-NMR data were confirmed by capillary zone electrophoresis, and the changes in myocardial bioenergetics were replicated in the skeletal muscle. Conclusion: This study provides evidence of the changes that occur in myocardial energetics in experimental uremia and highlights how skeletal muscle bioenergetics mirror those found in the cardiac tissue and so might potentially serve as a practical surrogate tissue

  19. Persistent abnormal coronary flow reserve in association with abnormal glucose metabolism affects prognosis in acute myocardial infarction

    DEFF Research Database (Denmark)

    Løgstrup, Brian B; Høfsten, Dan E; Christophersen, Thomas B;

    2011-01-01

    motion score index (WMI), ejection fraction (EF) and S' compared with patients with abnormal CFR. At follow-up patients with persistently normal CFR had higher WMI, EF, S' and lower end-systolic diameter compared with patients with abnormal microcirculation. Performing univariate logistical regression...

  20. Widespread Epigenetic Abnormalities Suggest a Broad DNA Methylation Erasure Defect in Abnormal Human Sperm

    Science.gov (United States)

    Siegmund, Kimberly; Yang, Allen; Laird, Peter W.; Sokol, Rebecca Z.

    2007-01-01

    Background Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis. Methodology/Principal Finding We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm. Conclusions This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line. PMID:18074014

  1. Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm.

    Directory of Open Access Journals (Sweden)

    Sahar Houshdaran

    Full Text Available BACKGROUND: Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis. METHODOLOGY/PRINCIPAL FINDING: We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm. CONCLUSIONS: This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line.

  2. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    Science.gov (United States)

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  3. Developmental disorders of the female reproductive tract

    Science.gov (United States)

    ... PA: Elsevier Mosby; 2012:chap 11. Keefer M. Management of abnormalities of the genitalia in girls. In: Wein AJ, Kavoussi LR, ... by: Robert A. Cowles, MD, Associate Professor of Pediatric Surgery, Yale University School of Medicine, ...

  4. Chromosome abnormalities in Indonesian patients with short stature

    Directory of Open Access Journals (Sweden)

    Paramayuda Chrysantine

    2012-08-01

    Full Text Available Abstract Background Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. Methods G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003–2009. Results The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40 and autosomal abnormalities in 10% (4/40, whereas those with short stature only, 42.1% (24/57 had sex chromosome abnormalities and 1.75% (1/57 had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14(q10;q10. Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Conclusion Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

  5. Correlations between computerized tomography of the head and motor developmental disturbances of children with cerebral palsy

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Y.H. (Nagasaki Univ. (Japan). School of Medicine)

    1981-01-01

    Two hundred and eighty-two children with cerebral palsy (C.P.) and thirty-seven normal children were studied by computerized tomography (C.T.) of the head for finding out the correlations between the organic damage of the brain and the motor developmental disturbance. The abnormal findings of C.T. were: enlargement of the ventricular system, high density area, low density area and porencephalus, enlargement of the sulcus and anomaly of the medial structure. Enlargement of the ventricular system seemed to have correlation with spasticity; the portion and the extent of the enlargement corresponded to the affected extremities and the severity of the spasticity. Children of other types also showed various abnormal C.T. findings but, in general, less than that of spastic types. The prognosis of the motor development of C.P. children cannot be predicted by serial C.T. examinations strictly, because early treatment could cause improvement to that of these children. However, it is of worthy notice that C.T. is an effective method of helping to diagnose the motor developmental disturbance in earlier childhood.

  6. Correlations between computerized tomography of the head and motor developmental disturbances of children with cerebral palsy

    International Nuclear Information System (INIS)

    Two hundred and eighty-two children with cerebral palsy (C.P.) and thirty-seven normal children were studied by computerized tomography (C.T.) of the head for finding out the correlations between the organic damage of the brain and the motor developmental disturbance. The abnormal findings of C.T. were: enlargement of the ventricular system, high density area, low density area and porencephalus, enlargement of the sulcus and anomaly of the medial structure. Enlargement of the ventricular system seemed to have correlation with spasticity; the portion and the extent of the enlargement corresponded to the affected extremities and the severity of the spasticity. Children of other types also showed various abnormal C.T. findings but, in general, less than that of spastic types. The prognosis of the motor development of C.P. children cannot be predicted by serial C.T. examinations strictly, because early treatment could cause improvement to that of these children. However, it is of worthy notice that C.T. is an effective method of helping to diagnose the motor developmental disturbance in earlier childhood. (author)

  7. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.

    Science.gov (United States)

    Ryan, M C; Lee, K; Miyashita, Y; Carter, W G

    1999-06-14

    Laminin 5 regulates anchorage and motility of epithelial cells through integrins alpha6beta4 and alpha3beta1, respectively. We used targeted disruption of the LAMA3 gene, which encodes the alpha3 subunit of laminin 5 and other isoforms, to examine developmental functions that are regulated by adhesion to the basement membrane (BM). In homozygous null animals, profound epithelial abnormalities were detected that resulted in neonatal lethality, consistent with removal of all alpha3-laminin isoforms from epithelial BMs. Alterations in three different cellular functions were identified. First, using a novel tissue adhesion assay, we found that the mutant BM could not induce stable adhesion by integrin alpha6beta4, consistent with the presence of junctional blisters and abnormal hemidesmosomes. In the absence of laminin 5 function, we were able to detect a new ligand for integrin alpha3beta1 in the epidermal BM, suggesting that basal keratinocytes can utilize integrin alpha3beta1 to interact with an alternative ligand. Second, we identified a survival defect in mutant epithelial cells that could be rescued by exogenous laminin 5, collagen, or an antibody against integrin alpha6beta4, suggesting that signaling through beta1 or beta4 integrins is sufficient for survival. Third, we detected abnormalities in ameloblast differentiation in developing mutant incisors indicating that events downstream of adhesion are affected in mutant animals. These results indicate that laminin 5 has an important role in regulating tissue organization, gene expression, and survival of epithelium. PMID:10366601

  8. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution.

    Science.gov (United States)

    Baumgartner, M R; Jansen, G A; Verhoeven, N M; Mooyer, P A; Jakobs, C; Roels, F; Espeel, M; Fourmaintraux, A; Bellet, H; Wanders, R J; Saudubray, J M

    2000-01-01

    We describe an 18-year-old patient with psychomotor retardation and abnormally short metatarsi and metacarpals but no other signs of classic Refsum disease. Molecular analysis of the phytanoyl-coenzyme A hydroxylase gene revealed a homozygous deletion causing a frameshift. Surprisingly, L-pipecolic acid was elevated in plasma, and microscopy of the liver showed a reduced number of peroxisomes per cell and a larger average peroxisome size. These abnormal peroxisomes lacked catalase as did peroxisomes in fibroblasts of this patient. Such generalized peroxisomal abnormalities are not present in classic Refsum disease.

  9. Electrophysiological abnormalities associated with extensive myelinated retinal nerve fibers

    Directory of Open Access Journals (Sweden)

    Su Ann Tay

    2012-01-01

    Full Text Available An observational case report of electrophysiological abnormalities in a patient with anisomyopic amblyopia as a result of unilateral extensive myelinated retinal nerve fibers (MNFs is illustrated. The electrophysiological readings revealed an abnormal pattern electroretinogram (PERG but normal full-field electroretinogram readings in the affected eye. The visual-evoked potential was also undetectable in that eye. Our findings suggest that extensive MNFs can be associated with electrophysiological abnormalities, in particular the PERG, which can aid in diagnosing the cause of impaired vision when associated with amblyopia.

  10. Neuroimaging of schizophrenia: structural abnormalities and pathophysiological implications

    Science.gov (United States)

    Buckley, Peter F

    2005-01-01

    Schizophrenia, once considered a psychological malady devoid of any organic brain substrate, has been the focus of intense neuroimaging research. Findings reveal mild but generalized tissue loss as well as more selective focal loss. It is unclear whether these abnormalities reflect neurodevelopmental or neurodegenerative processes, or some combination of each; current evidence favors a preponderance of neurodevelopmental abnormalities. The pattern of brain abnormalities is also influenced by environmental and genetic risk factors, as well as by the course (and possibly even treatment) of this illness. These findings are described in this article. PMID:18568069

  11. Cardiac Arrhythmias and Abnormal Electrocardiograms After Acute Stroke.

    Science.gov (United States)

    Ruthirago, Doungporn; Julayanont, Parunyou; Tantrachoti, Pakpoom; Kim, Jongyeol; Nugent, Kenneth

    2016-01-01

    Cardiac arrhythmias and electrocardiogram (ECG) abnormalities occur frequently but are often underrecognized after strokes. Acute ischemic and hemorrhagic strokes in some particular area of brain can disrupt central autonomic control of the heart, precipitating cardiac arrhythmias, ECG abnormalities, myocardial injury and sometimes sudden death. Identification of high-risk patients after acute stroke is important to arrange appropriate cardiac monitoring and effective management of arrhythmias, and to prevent cardiac morbidity and mortality. More studies are needed to better clarify pathogenesis, localization of areas associated with arrhythmias and practical management of arrhythmias and abnormal ECGs after acute stroke. PMID:26802767

  12. Abnormal Trichuris trichiura eggs detected during an epidemiological survey.

    Science.gov (United States)

    Ferrer-Rodríguez, Iván; Kozek, Wieslaw J

    2007-09-01

    Abnormal eggs of Trichuris trichiura were found in the stools of one of the patients during a study on the prevalence of intestinal parasitoses among an institutionalized population. The abnormalities observed included great variation in shape, size, and color. Similar atypical whipworm eggs have been reported in patients after treatment with mebendazole, thiabendazole, tetracloroethylene, and dithiazanine. Apparently some anthelminthics have an effect on the reproductive system of female T. trichiura, resulting in production of abnormal eggs, which could lead to misdiagnosis of the infection, since they can be mistaken as eggs of other parasites or artifacts.

  13. Radiologic evaluation of structural abnormalities of the foot

    International Nuclear Information System (INIS)

    This exhibit concentrates on often overlooked, unfamiliar biomechanical or structural abnormalities of the foot. Pericalcaneal pathology and its correlation with the presence of heel spurs is illustrated. In the tarsal area, coalitions, prehallux, and their relationships to abnormalities of the longitudinal arch are discussed. Distally, medial, dorsal and tailor's bunions are demonstrated. Pain and disability often precede obvious deformity, and a radiologist familiar with the early findings on x-ray studies may be the first member of the medical team to identify structural abnormalities. Diagnosis allows prompt institution of appropriate therapy, reducing the period of patient discomfort and disability

  14. Developmental dyslexia and phonological processing in European Portuguese orthography.

    Science.gov (United States)

    Moura, Octávio; Moreno, Joana; Pereira, Marcelino; Simões, Mário R

    2015-02-01

    This study analysed the performance of phonological processing, the diagnostic accuracy and the influence on reading in children who were native speakers of an orthography of intermediate depth. Portuguese children with developmental dyslexia (DD; N=24; aged 10-12 years), chronological age (CA)-matched controls (N=24; aged 10-12 years) and reading level (RL)-matched controls (N=24; aged 7-9 years) were tested on measures of phonological processing (phonological awareness, naming speed and verbal short-term memory) and reading. The results indicated that the children with DD performed significantly poorer in all measures compared with the CA and RL. Phonological awareness and naming speed showed a high accuracy (receiver operating characteristics curve analysis) for discriminating the children with DD from the CA and RL, whereas the presence of abnormally low scores in phonological awareness and naming speed was more frequent in the DD group than in the controls and the normative population. Hierarchical linear regression analyses revealed that phonological awareness was the most important predictor of all reading accuracy measures, whereas naming speed was particularly related to text reading fluency.

  15. Punishment Insensitivity in Early Childhood: A Developmental, Dimensional Approach.

    Science.gov (United States)

    Nichols, Sara R; Briggs-Gowan, Margaret J; Estabrook, Ryne; Burns, James L; Kestler, Jacqueline; Berman, Grace; Henry, David B; Wakschlag, Lauren S

    2015-08-01

    Impairment in learning from punishment ("punishment insensitivity") is an established feature of severe antisocial behavior in adults and youth but it has not been well studied as a developmental phenomenon. In early childhood, differentiating a normal: abnormal spectrum of punishment insensitivity is key for distinguishing normative misbehavior from atypical manifestations. This study employed a novel measure, the Multidimensional Assessment Profile of Disruptive Behavior (MAP-DB), to examine the distribution, dimensionality, and external validity of punishment insensitivity in a large, demographically diverse community sample of preschoolers (3-5 years) recruited from pediatric clinics (N = 1,855). Caregivers completed surveys from which a seven-item Punishment Insensitivity scale was derived. Findings indicated that Punishment Insensitivity behaviors are relatively common in young children, with at least 50 % of preschoolers exhibiting them sometimes. Item response theory analyses revealed a Punishment Insensitivity spectrum. Items varied along a severity continuum: most items needed to occur "Often" in order to be severe and behaviors that were qualitatively atypical or intense were more severe. Although there were item-level differences across sociodemographic groups, these were small. Construct, convergent, and divergent validity were demonstrated via association to low concern for others and noncompliance, motivational regulation, and a disruptive family context. Incremental clinical utility was demonstrated in relation to impairment. Early childhood punishment insensitivity varies along a severity continuum and is atypical when it predominates. Implications for understanding the phenomenology of emergent disruptive behavior are discussed.

  16. The Dynamics of Developmental and Tumor Angiogenesis—A Comparison

    Energy Technology Data Exchange (ETDEWEB)

    Jin, Yi; Jakobsson, Lars, E-mail: Lars.jakobsson@ki.se [Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-17177 (Sweden)

    2012-04-11

    The blood vasculature in cancers has been the subject of intense interest during the past four decades. Since the original ideas of targeting angiogenesis to treat cancer were proposed in the 1970s, it has become evident that more knowledge about the role of vessels in tumor biology is needed to fully take advantage of such strategies. The vasculature serves the surrounding tissue in a multitude of ways that all must be taken into consideration in therapeutic manipulation. Aspects of delivery of conventional cytostatic drugs, induction of hypoxia affecting treatment by radiotherapy, changes in tumor cell metabolism, vascular leak and trafficking of leukocytes are affected by interventions on vascular function. Many tumors constitute a highly interchangeable milieu undergoing proliferation, apoptosis, and necrosis with abundance of growth factors, enzymes and metabolites. These aspects are reflected by the abnormal tortuous, leaky vascular bed with detached mural cells (pericytes). The vascular bed of tumors is known to be unstable and undergoing remodeling, but it is not until recently that this has been dynamically demonstrated at high resolution, facilitated by technical advances in intravital microscopy. In this review we discuss developmental genetic loss-of-function experiments in the light of tumor angiogenesis. We find this a valid comparison since many studies phenocopy the vasculature in development and tumors.

  17. The Koppitz Developmental Scoring System for the Bender-Gestalt: Is It Developmental?

    Science.gov (United States)

    Taylor, Ronald L.; And Others

    1984-01-01

    Investigated the developmental aspects of the Koppitz scoring system with 652 children who took the Bender Motor Gestalt Test. Scores were fitted to various developmental curves by computer. Results indicated only 35 percent of the Bender test performance variance was accounted for by age. (JAC)

  18. A Comparison of Motor Delays in Young Children: Autism Spectrum Disorder, Developmental Delay, and Developmental Concerns

    Science.gov (United States)

    Provost, Beth; Lopez, Brian R.; Heimerl, Sandra

    2007-01-01

    This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns…

  19. Developmentalism: An Obscure but Pervasive Restriction

    Directory of Open Access Journals (Sweden)

    J. E. Stone

    1996-04-01

    Full Text Available Despite continuing criticism of public education, experimentally demonstrated and field tested teaching methods have been ignored, rejected, and abandoned. Instead of a stable consensus regarding best teaching practices, there seems only an unending succession of innovations. A longstanding educational doctrine appears to underlie this anomalous state of affairs. Termed developmentalism, it presumes "natural" ontogenesis to be optimal and it requires experimentally demonstrated teaching practices to overcome a presumption that they interfere with an optimal developmental trajectory. It also discourages teachers and parents from asserting themselves with children. Instead of effective interventions, it seeks the preservation of a postulated natural perfection. Developmentalism's rich history is expressed in a literature extending over 400 years. Its notable exponents include Jean Jacques Rousseau, John Dewey, and Jean Piaget; and its most recent expressions include "developmentally appropriate practice" and "constructivism." In the years during which it gained ascendance, developmentalism served as a basis for rejecting harsh and inhumane teaching methods. Today it impedes efforts to hold schools accountable for student academic achievement.

  20. Chromosome abnormality incidence in fetuses with cerebral ventriculomegaly.

    Science.gov (United States)

    Gezer, C; Ekin, A; Ozeren, M; Taner, C E; Ozer, O; Koc, A; Bilgin, M; Gezer, N S

    2014-07-01

    Ventriculomegaly (VM) is a marker of aneuploidy and warrants a detailed examination of fetal anatomy. Chromosomal abnormalities worsen the fetal and neonatal prognosis significantly and karyotyping of fetuses is critically important when accompanying anomalies are detected. Here, we report the genetic results of 140 fetuses with isolated and non-isolated VM detected during a second trimester ultrasound examination followed by invasive in utero diagnostic procedures for karyotyping. VM was diagnosed in seven (5%) fetuses with abnormal karyotype and the chromosomal abnormality incidence was higher in severe VM (6.8%) than mild (4.2%). Higher chromosomal abnormality rates were detected when VM was isolated (8.6%), rather than associated with any anomaly (3.8%). These results suggest that karyotype analysis should be offered to all patients with any degree of VM, regardless of its association with structural anomalies.

  1. Abnormal Changes of Synaptic Excitability in Migraine with Aura

    DEFF Research Database (Denmark)

    Siniatchkin, Michael; Sendacki, Mascha; Moeller, Friederike;

    2012-01-01

    Migraine patients are characterized by altered cortical excitability and information processing between attacks. The relationship between these abnormalities is still poorly understood. In this study, visual evoked potentials (VEP) and proton magnetic resonance spectroscopy were recorded simultan...

  2. Role of scintigraphy in focally abnormal sonograms of fatty livers

    Energy Technology Data Exchange (ETDEWEB)

    Lisbona, R.; Mishkin, S.; Derbekyan, V.; Novales-Diaz, J.A.; Roy, A.; Sanders, L.

    1988-06-01

    Fatty infiltration of the liver may cause a range of focal abnormalities on hepatic sonography which may simulate hepatic nodular lesions. Discrete deposits of fat or islands of normal tissue which are uninvolved by fatty infiltration may stand out as potential space-occupying lesions on the sonograms. Twelve patients with such focally abnormal ultrasound images were referred for liver scintigraphy with /sup 133/Xe and /sup 99m/Tc colloidal SPECT studies to clarify the issue. These examinations helped identify, in nine of 12 patients, the innocent nature of the sonographic abnormalities which were simply related to the fat deposition process. Further, (/sup 99m/Tc)RBC scans defined the additional pathologic process in three patients in whom actual space-occupying lesions were indeed present in the liver. Scintigraphy has an important role to play in the understanding of focal hepatic ultrasound abnormalities particularly in unsuspected hepatic steatosis.

  3. Detection and Recognition of Abnormal Running Behavior in Surveillance Video

    Directory of Open Access Journals (Sweden)

    Ying-Ying Zhu

    2012-01-01

    Full Text Available Abnormal running behavior frequently happen in robbery cases and other criminal cases. In order to identity these abnormal behaviors a method to detect and recognize abnormal running behavior, is presented based on spatiotemporal parameters. Meanwhile, to obtain more accurate spatiotemporal parameters and improve the real-time performance of the algorithm, a multitarget tracking algorithm, based on the intersection area among the minimum enclosing rectangle of the moving objects, is presented. The algorithm can judge and exclude effectively the intersection of multitarget and the interference, which makes the tracking algorithm more accurate and of better robustness. Experimental results show that the combination of these two algorithms can detect and recognize effectively the abnormal running behavior in surveillance videos.

  4. Appearing and disappearing CT scan abnormalities and seizures.

    OpenAIRE

    P K Sethi; Kumar, B.R.; Madan, V S; Mohan, V

    1985-01-01

    A group of patients presenting with seizures (focal or generalised) and abnormal CT scans who, on follow up, showed complete resolution of the CT scan changes, without any treatment other than anticonvulsants, are described.

  5. Cytogenetic analysis of chromosomal abnormalities in Sri Lankan children

    Institute of Scientific and Technical Information of China (English)

    Colombo; Sri Lanka

    2015-01-01

    Background: Cytogenetic analysis is a valuable investigation in the diagnostic work up of children with suspected chromosomal disorders. The objective of this study was to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis. Methods: Cytogenetic reports of 1554 consecutive children with suspected chromosomal disorders who underwent karyotyping in two genetic centers in Sri Lanka from January 2006 to December 2011 were reviewed retrospectively. Results: A total of 1548 children were successfully karyotyped. Abnormal karyotypes were found in 783 (50.6%) children. Numerical and structural abnormalities accounted for 90.8% and 9.2%, respectively. Down syndrome was the commonest aneuploidy identifi ed. Other various autosomal and sex chromosomal aneuploidies as well as micro-deletion syndromes were also detected. Conclusions: The prevalence of chromosomal abnormalities in Sri Lankan children undergoing cytogenetic analysis for suspected chromosomal disorders was relatively higher than that in Caucasian and other Asian populations.

  6. Abnormal amphibians on U.S. National Wildlife Refuges

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This project contains a journal article, a news release, FAQs, a fact sheet, photos, and a dataset related to a 10-year study of amphibian abnormalities on U.S....

  7. Report to Congress on abnormal occurrences, October--December 1991

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence of an unscheduled incident or event that the Nuclear Regulatory Commission determines to be significant from the standpoint of public health and safety and requires a quarterly report of such events to be made to Congress. This report covers the period October through December 1991. Five abnormal occurrences at NRC-licensed facilities are discussed in this report. None of these occurrences involved a nuclear power plant. Four involved medical therapy misadministrations and one involved a medical diagnostic misadministration. The NRC's Agreement States reported three abnormal occurrences. Two involved exposures of non-radiation workers and one involved a medical therapy misadministration. The report also contains information that updates some previously reported abnormal occurrences

  8. [Neural network detection of abnormalities in fed-batch fermentation].

    Science.gov (United States)

    Li, Yun-Feng; Yuan, Jing-Qi

    2005-01-01

    During fermentation, it is often difficult to detect the abnormalities, for example, caused by contamination on-line. Instead, the faults were detected usually by off-line laboratory analysis or other ways, which in most cases, is too late to remedy the situation. In this paper, a simple three-layers BP network was used for the early prediction of the amount of product, based on the difference in prediction errors between normal and abnormal charges and other accessorial information, such as profit function and pH value. In addition, three indications characteristic to abnormal charge are incorporated in practical operation. The prediction for Cephalosporin C Fed-batch Fermentation in a Chinese pharmaceutical factory was studied in details as an example and the result shows the abnormal charge can be discovered early successfully using the method. PMID:15859337

  9. Tamoxifen OK for Breast Cancer Patients without Uterine Abnormalities

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_161118.html Tamoxifen OK for Breast Cancer Patients Without Uterine Abnormalities: ... For most women, taking the breast cancer drug tamoxifen doesn't increase their risk of uterine cancer, ...

  10. Report to Congress on abnormal occurrences, July--September 1991

    International Nuclear Information System (INIS)

    Section 108 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event that the Nuclear Regulatory Commission determines to be significant from the standpoint of public health and safety and requires a quarterly report of such events to be made to Congress. This report covers the period July through September 1991. The report discusses two abnormal occurrences at NRC-licensed facilities, neither involving a nuclear power plant. One involved radiation exposures to members of the public from a lost radioactive source and the other involved a medical diagnostic midadministration. The Agreement States reported no abnormal occurrences. The report also contains information that updates some previously reported abnormal occurrences

  11. Report to Congress on abnormal occurrences, January-March 1983

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event which the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from January 1 to March 31, 1983. The report states that for this report period, there were three abnormal occurrences at the nuclear power plants licensed by the NRC to operate. The first involved a main feedwater line break due to water hammer. The second involved management and procedural control deficiencies. The third involved failure of the automatic reactor trip system. There were no abnormal occurrences for the other NRC licensees. There were six abnormal occurrences at Agreement State licensees. One involved an individual who ingested and was contaminated by radioactive material. Four involved lost or stolen radioactive sources. One involved radioactive contamination of a metals production facility

  12. Report to Congress on abnormal occurrences, October-December 1987

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event which the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from October 1 to December 31, 1987. The report states that for this reporting period, these was one abnormal occurrence at the NRC licensees; the item involved the suspension of license of an oil and gas well tracer company for noncompliance with NRC regulatory requirements. There were no abnormal occurrences report by the Agreement States. The report also contains information updating some previously reported abnormal occurrences

  13. The significance of ultrastructural abnormalities of human cilia.

    Science.gov (United States)

    Fox, B; Bull, T B; Makey, A R; Rawbone, R

    1981-12-01

    The electronmicroscopic structure of cilia was studied from the inferior turbinate of the nose in 22 adults, and in 84 biopsies from the bronchial tree of 40 adults. The incidence of compound cilia and abnormal microtubular structures was assessed. There were significant variations in the incidence of abnormalities in different parts of the airways and even within different areas of the same electronmicroscopic section. The focal nature of differences in structure of cilia indicate that abnormalities found in a single biopsy do not necessarily reflect a generalized change in the bronchial tree. Thus, such a finding should not be used as evidence that the abnormalities of cilia are the cause of decrease in mucociliary clearance or that they play a role in the pathogenesis of bronchiectasis and sinusitis.

  14. Electrocardiographic abnormalities and cardiac arrhythmias in chronic obstructive pulmonary disease.

    Science.gov (United States)

    Goudis, Christos A; Konstantinidis, Athanasios K; Ntalas, Ioannis V; Korantzopoulos, Panagiotis

    2015-11-15

    Chronic obstructive pulmonary disease (COPD) is independently associated with an increased burden of cardiovascular disease. Besides coronary artery disease (CAD) and congestive heart failure (CHF), specific electrocardiographic (ECG) abnormalities and cardiac arrhythmias seem to have a significant impact on cardiovascular prognosis of COPD patients. Disturbances of heart rhythm include premature atrial contractions (PACs), premature ventricular contractions (PVCs), atrial fibrillation (AF), atrial flutter (AFL), multifocal atrial tachycardia (MAT), and ventricular tachycardia (VT). Of note, the identification of ECG abnormalities and the evaluation of the arrhythmic risk may have significant implications in the management and outcome of patients with COPD. This article provides a concise overview of the available data regarding ECG abnormalities and arrhythmias in these patients, including an elaborated description of the underlying arrhythmogenic mechanisms. The clinical impact and prognostic significance of ECG abnormalities and arrhythmias in COPD as well as the appropriate antiarrhythmic therapy and interventions in this setting are also discussed. PMID:26218181

  15. Effects of abnormal excitation on the dynamics of spiral waves

    Science.gov (United States)

    Min-Yi, Deng; Xue-Liang, Zhang; Jing-Yu, Dai

    2016-01-01

    The effect of physiological and pathological abnormal excitation of a myocyte on the spiral waves is investigated based on the cellular automaton model. When the excitability of the medium is high enough, the physiological abnormal excitation causes the spiral wave to meander irregularly and slowly. When the excitability of the medium is low enough, the physiological abnormal excitation leads to a new stable spiral wave. On the other hand, the pathological abnormal excitation destroys the spiral wave and results in the spatiotemporal chaos, which agrees with the clinical conclusion that the early after depolarization is the pro-arrhythmic mechanism of some anti-arrhythmic drugs. The mechanisms underlying these phenomena are analyzed. Project supported by the National Natural Science Foundation of China (Grant Nos. 11365003 and 11165004).

  16. Analysis and treatment for abnormal loss of RCP motor lubrication

    International Nuclear Information System (INIS)

    RCP, as the 'heat' of a nuclear power plant, is one of the vital equipment of RCP Coolant System, ensuring the regular coolant flow for core heat transmission. In this case, it is a must to ensure the safety and reliability of RCP operation. During the 11th cycle of QNPC, the lubrication of RCP-A motor lost abnormally. To ensure normal operation of the motor, we performed 5 emergency lubrication-feeding. Against this problem, we analyzed the cause of abnormal lubrication loss of RCP motor and the transfer pathway for oil-gas, and according to the analysis we performed RCP motor disassembly maintenance during refueling overhaul. The paper discusses the specific treatment for the abnormal lubrication loss. It was testified useful to control the abnormal lubrication loss by the specific treatment. (authors)

  17. Report to Congress on abnormal occurrences, April--June 1992

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event that the nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from April 1 through June 30, 1992. Five abnormal occurrences are discussed in this report. One involved an extended loss of high-head safety injection capability at the Shearon Harris Nuclear Power Plant. The other four involved medical misadministrations (three therapeutic and one diagnostic) at NRC-licensed facilities. No abnormal occurrences were reported by NRC's Agreement States. The report also contains information updating a previously reported abnormal occurrence

  18. Manganese Abnormity in Holocene Sediments of the Bohai Sea

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Manganese abnormity has been observed in the Holocene sediments of the mud area of Bohai Sea. On the basis of grain size, chemical composition, heavy mineral content and accelerator mass spectrometry (AMS) 14C dating of foraminifer, relationships between manganese abnormity and sedimentation rates, material source, hydrodynamic conditions are probed. Manganese abnormity occurred during the Middle Holocene when sea level and sedimentation rates were higher than those at present. Sedimentary hiatus was not observed when material sources and hydrodynamic conditions were quite similar. Compared with the former period, the latter period showed a decrease in reduction environment and an inclination toward oxidation environment with high manganese content, whereas provenance and hydrodynamic conditions showed only a slight change. From the above observations, it can be concluded that correlation among manganese abnormity, material source, and hydrodynamic conditions is not obvious. Redox environment seems to be the key factor for manganese enrichment, which is mainly related to marine authigenic process.

  19. Diverticular Disease of the Colon: Neuromuscular Function Abnormalities.

    Science.gov (United States)

    Bassotti, Gabrio; Villanacci, Vincenzo; Bernardini, Nunzia; Dore, Maria P

    2016-10-01

    Colonic diverticular disease is a frequent finding in daily clinical practice. However, its pathophysiological mechanisms are largely unknown. This condition is likely the result of several concomitant factors occurring together to cause anatomic and functional abnormalities, leading as a result to the outpouching of the colonic mucosa. A pivotal role seems to be played by an abnormal colonic neuromuscular function, as shown repeatedly in these patients, and by an altered visceral perception. There is recent evidence that these abnormalities might be related to the derangement of the enteric innervation, to an abnormal distribution of mucosal neuropeptides, and to low-grade mucosal inflammation. The latter might be responsible for the development of visceral hypersensitivity, often causing abdominal pain in a subset of these patients. PMID:27622368

  20. Development of the uncinate fasciculus: Implications for theory and developmental disorders

    Directory of Open Access Journals (Sweden)

    Ingrid R. Olson

    2015-08-01

    Full Text Available The uncinate fasciculus (UF is a long-range white matter tract that connects limbic regions in the temporal lobe to the frontal lobe. The UF is one of the latest developing tracts, and continues maturing into the third decade of life. As such, individual differences in the maturational profile of the UF may serve to explain differences in behavior. Indeed, atypical macrostructure and microstructure of the UF have been reported in numerous studies of individuals with developmental and psychiatric disorders such as social deprivation and maltreatment, autism spectrum disorders, conduct disorder, risk taking, and substance abuse. The present review evaluates what we currently know about the UF's developmental trajectory and reviews the literature relating UF abnormalities to specific disorders. Additionally, we take a dimensional approach and critically examine symptoms and behavioral impairments that have been demonstrated to cluster with UF aberrations, in an effort to relate these impairments to our speculations regarding the functionality of the UF. We suggest that developmental disorders with core problems relating to memory retrieval, reward and valuation computation, and impulsive decision making may be linked to aberrations in uncinate microstructure.

  1. Protective effects of pine bark extract on developmental toxicity of cyclophosphamide in rats.

    Science.gov (United States)

    Kim, Sung-Hwan; Lee, In-Chul; Lim, Jeong-Hyeon; Moon, Changjong; Bae, Chun-Sik; Kim, Sung-Ho; Shin, Dong-Ho; Park, Seung-Chun; Kim, Hyoung-Chin; Kim, Jong-Choon

    2012-02-01

    This study investigated the protective effects of pine bark extract (Pycnogenol®, PYC) against cyclophosphamide (CP)-induced developmental toxicity in rats. A total of 44 mated females were randomly assigned to the following four experimental groups: (1) vehicle control, (2) CP, (3) CP&PYC, or (4) PYC. All dams were subjected to a Caesarean section on day 20 of gestation, and fetuses were examined for morphological abnormalities. Oxidative stress analysis was performed on maternal hepatic tissues. CP treatment caused decreased fetal and placental weights and increased embryonic resorptions and fetal malformations. In addition, an increased malondialdehyde (MDA) concentration and decreased reduced glutathione (GSH) content and catalase activity were observed in the hepatic tissues. On the contrary, PYC treatment during pregnancy significantly ameliorated the CP-induced embryo-fetal developmental toxicity in rats. Moreover, MDA and GSH concentrations and catalase activity in hepatic tissues were not affected when PYC was administered in conjunction with CP. These results suggest that repeated administration of PYC has beneficial effects against CP-induced embryo-fetal developmental toxicity in rats, and that the protective effects of PYC may be due to both inhibition of lipid peroxidation and increased antioxidant activity. PMID:22036974

  2. Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice.

    Science.gov (United States)

    Mohun, Timothy; Adams, David J; Baldock, Richard; Bhattacharya, Shoumo; Copp, Andrew J; Hemberger, Myriam; Houart, Corinne; Hurles, Matt E; Robertson, Elizabeth; Smith, James C; Weaver, Tom; Weninger, Wolfgang

    2013-05-01

    International efforts to test gene function in the mouse by the systematic knockout of each gene are creating many lines in which embryonic development is compromised. These homozygous lethal mutants represent a potential treasure trove for the biomedical community. Developmental biologists could exploit them in their studies of tissue differentiation and organogenesis; for clinical researchers they offer a powerful resource for investigating the origins of developmental diseases that affect newborns. Here, we outline a new programme of research in the UK aiming to kick-start research with embryonic lethal mouse lines. The 'Deciphering the Mechanisms of Developmental Disorders' (DMDD) programme has the ambitious goal of identifying all embryonic lethal knockout lines made in the UK over the next 5 years, and will use a combination of comprehensive imaging and transcriptomics to identify abnormalities in embryo structure and development. All data will be made freely available, enabling individual researchers to identify lines relevant to their research. The DMDD programme will coordinate its work with similar international efforts through the umbrella of the International Mouse Phenotyping Consortium [see accompanying Special Article (Adams et al., 2013)] and, together, these programmes will provide a novel database for embryonic development, linking gene identity with molecular profiles and morphology phenotypes. PMID:23519034

  3. Deciphering the Mechanisms of Developmental Disorders (DMDD: a new programme for phenotyping embryonic lethal mice

    Directory of Open Access Journals (Sweden)

    Timothy Mohun

    2013-05-01

    International efforts to test gene function in the mouse by the systematic knockout of each gene are creating many lines in which embryonic development is compromised. These homozygous lethal mutants represent a potential treasure trove for the biomedical community. Developmental biologists could exploit them in their studies of tissue differentiation and organogenesis; for clinical researchers they offer a powerful resource for investigating the origins of developmental diseases that affect newborns. Here, we outline a new programme of research in the UK aiming to kick-start research with embryonic lethal mouse lines. The ‘Deciphering the Mechanisms of Developmental Disorders’ (DMDD programme has the ambitious goal of identifying all embryonic lethal knockout lines made in the UK over the next 5 years, and will use a combination of comprehensive imaging and transcriptomics to identify abnormalities in embryo structure and development. All data will be made freely available, enabling individual researchers to identify lines relevant to their research. The DMDD programme will coordinate its work with similar international efforts through the umbrella of the International Mouse Phenotyping Consortium [see accompanying Special Article (Adams et al., 2013] and, together, these programmes will provide a novel database for embryonic development, linking gene identity with molecular profiles and morphology phenotypes.

  4. Characteristics of Oral Abnormalities in Liver Transplant Candidates

    OpenAIRE

    Guggenheimer, J.; Close, J. M.; Eghtesad, B; Shay, C.

    2010-01-01

    Background: Several oral mucosal abnormalities have been reported to occur more frequently in patients with liver disease. It has, however, not been determined if these conditions are related to the disease or are manifestations of extraneous factors not associated with the liver pathology. Objective: To identify and quantify oral abnormalities in candidates for liver transplantation, and to determine whether these conditions were correlated with the type of liver disease or were the result o...

  5. Cognition and brain abnormalities on MRI in pituitary patients

    International Nuclear Information System (INIS)

    Highlights: • Cognitive impairments are frequently observed in treated NFA patients. • NFA patients with cognitive impairments do not show brain abnormalities on MRI more frequently than patients without cognitive impairments. • The absence of brain abnormalities on brain MRI does not exclude impairments of cognition. - Abstract: Purpose: The extent to which cognitive dysfunction is related to specific brain abnormalities in patients treated for pituitary macroadenoma is unclear. Therefore, we compared brain abnormalities seen on Magnetic Resonance Imaging (MRI) in patients treated for nonfunctioning pituitary macroadenoma (NFA) with or without impairments in cognitive functioning. Methods: In this cross-sectional design, a cohort of 43 NFA patients was studied at the University Medical Center Groningen. White matter lesions (WMLs), cerebral atrophy, (silent) brain infarcts and abnormalities of the temporal lobes and hippocampi were assessed on pre-treatment and post-treatment MRI scans. Post-treatment cognitive examinations were performed using a verbal memory and executive functioning test. We compared our patient cohort with large reference populations representative of the Dutch population. Results: One or more impairments on both cognitive tests were frequently observed in treated NFA patients. No treatment effects were found with regard to the comparison between patients with and without impairments in executive functioning. Interestingly, in patients with one or more impairments on verbal memory function, treatment with radiotherapy had been given more frequently (74% in the impaired group versus 40% in the unimpaired group, P = 0.025). Patients with or without any brain abnormality on MRI did not differ in verbal memory or executive functioning. Conclusions: Brain abnormalities on MRI are not observed more frequently in treated NFA patients with impairments compared to NFA patients without impairments in verbal memory or executive functioning

  6. Abnormal Event Detection via Multikernel Learning for Distributed Camera Networks

    OpenAIRE

    Tian Wang; Jie Chen; Paul Honeine; Hichem Snoussi

    2015-01-01

    Distributed camera networks play an important role in public security surveillance. Analyzing video sequences from cameras set at different angles will provide enhanced performance for detecting abnormal events. In this paper, an abnormal detection algorithm is proposed to identify unusual events captured by multiple cameras. The visual event is summarized and represented by the histogram of the optical flow orientation descriptor, and then a multikernel strategy that takes the multiview scen...

  7. Cognition and brain abnormalities on MRI in pituitary patients

    Energy Technology Data Exchange (ETDEWEB)

    Brummelman, Pauline [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands); Sattler, Margriet G.A. [Department of Radiation Oncology, University of Groningen, University Medical Center Groningen (Netherlands); Department of Radiation Oncology, Netherlands Cancer Institute – Antoni van Leeuwenhoek Hospital, Amsterdam (Netherlands); Meiners, Linda C. [Department of Radiology, University of Groningen, University Medical Center Groningen (Netherlands); Berg, Gerrit van den; Klauw, Melanie M. van der [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands); Elderson, Martin F. [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands); LifeLines Cohort Study and Biobank, University of Groningen, University Medical Center Groningen (Netherlands); Dullaart, Robin P.F. [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands); Koerts, Janneke [Department of Clinical and Developmental Neuropsychology, University of Groningen, Groningen (Netherlands); Werumeus Buning, Jorien, E-mail: j.werumeus.buning@umcg.nl [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands); Tucha, Oliver [Department of Clinical and Developmental Neuropsychology, University of Groningen, Groningen (Netherlands); Wolffenbuttel, Bruce H.R. [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands); LifeLines Cohort Study and Biobank, University of Groningen, University Medical Center Groningen (Netherlands); Bergh, Alfons C.M. van den [Department of Radiation Oncology, University of Groningen, University Medical Center Groningen (Netherlands); Beek, André P. van, E-mail: a.p.van.beek@umcg.nl [Department of Endocrinology, University of Groningen, University Medical Center Groningen (Netherlands)

    2015-02-15

    Highlights: • Cognitive impairments are frequently observed in treated NFA patients. • NFA patients with cognitive impairments do not show brain abnormalities on MRI more frequently than patients without cognitive impairments. • The absence of brain abnormalities on brain MRI does not exclude impairments of cognition. - Abstract: Purpose: The extent to which cognitive dysfunction is related to specific brain abnormalities in patients treated for pituitary macroadenoma is unclear. Therefore, we compared brain abnormalities seen on Magnetic Resonance Imaging (MRI) in patients treated for nonfunctioning pituitary macroadenoma (NFA) with or without impairments in cognitive functioning. Methods: In this cross-sectional design, a cohort of 43 NFA patients was studied at the University Medical Center Groningen. White matter lesions (WMLs), cerebral atrophy, (silent) brain infarcts and abnormalities of the temporal lobes and hippocampi were assessed on pre-treatment and post-treatment MRI scans. Post-treatment cognitive examinations were performed using a verbal memory and executive functioning test. We compared our patient cohort with large reference populations representative of the Dutch population. Results: One or more impairments on both cognitive tests were frequently observed in treated NFA patients. No treatment effects were found with regard to the comparison between patients with and without impairments in executive functioning. Interestingly, in patients with one or more impairments on verbal memory function, treatment with radiotherapy had been given more frequently (74% in the impaired group versus 40% in the unimpaired group, P = 0.025). Patients with or without any brain abnormality on MRI did not differ in verbal memory or executive functioning. Conclusions: Brain abnormalities on MRI are not observed more frequently in treated NFA patients with impairments compared to NFA patients without impairments in verbal memory or executive functioning

  8. Abnormal Movement Preparation in Task-Specific Focal Hand Dystonia

    OpenAIRE

    Jankowski, Jakob; Paus, Sebastian; Scheef, Lukas; Bewersdorff, Malte; Schild, Hans H; Klockgether, Thomas; Boecker, Henning

    2013-01-01

    Electrophysiological and behavioral studies in primary dystonia suggest abnormalities during movement preparation, but this crucial phase preceding movement onset has not yet been studied specifically with functional magnetic resonance imaging (fMRI). To identify abnormalities in brain activation during movement preparation, we used event-related fMRI to analyze behaviorally unimpaired sequential finger movements in 18 patients with task-specific focal hand dystonia (FHD) and 18 healthy subje...

  9. Abnormality Detection in ECG Signal Using Wavelets and Fourier Transform

    OpenAIRE

    Sayali Kambire; Shital Naktode; Namita Choudhari; Prof. Sujit Deokar

    2016-01-01

    Electrocardiogram (ECG) is used to record the electrical activity in the heart. It is the most important physiological parameter that gives the correct assessment regarding the functioning of the heart. The paper proposes a method based on signal processing correlation technique to find out whether the ECG is normal or abnormal. Many of the abnormal ECGs are called Arrhythmias. Aim of this study to analyze the ECG signal using MATLAB and to find whether the signal is normal or abn...

  10. Online Detection of Abnormal Events in Video Streams

    Directory of Open Access Journals (Sweden)

    Tian Wang

    2013-01-01

    an image descriptor and online nonlinear classification method. We introduce the covariance matrix of the optical flow and image intensity as a descriptor encoding moving information. The nonlinear online support vector machine (SVM firstly learns a limited set of the training frames to provide a basic reference model then updates the model and detects abnormal events in the current frame. We finally apply the method to detect abnormal events on a benchmark video surveillance dataset to demonstrate the effectiveness of the proposed technique.

  11. The Concept of Development in Developmental Psychopathology.

    Science.gov (United States)

    Sroufe, L Alan

    2009-12-01

    So important is the perspective of development for understanding psychopathology that it spawned a new discipline-"developmental psychopathology"-which has seen remarkable advances since its introduction,, but has yet to completely fulfill its promise. To do this requires maintaining a thoroughgoing developmental perspective. When we take development seriously, there are implications for how we understand psychopathology, describe and conceptualize the origins and course of disorder, and interpret research findings. From this perspective, disorders are complex products of development; for example, we can view neurophysiological associates of disorder not as causes but as markers, the development of which we need to understand. Research on developmental psychopathology requires an examination of the history of problem behavior from early in life, and it unites multiple features of adaptation and maladaptation (contextual, experiential, physiological, and genetic). PMID:20161376

  12. Implications of attachment theory for developmental psychopathology.

    Science.gov (United States)

    Sroufe, L A; Carlson, E A; Levy, A K; Egeland, B

    1999-01-01

    Bowlby's attachment theory is a theory of psychopathology as well as a theory of normal development. It contains clear and specific propositions regarding the role of early experience in developmental psychopathology, the importance of ongoing context, and the nature of the developmental process underlying pathology. In particular, Bowlby argued that adaptation is always the joint product of developmental history and current circumstances (never either alone). Early experience does not cause later pathology in a linear way; yet, it has special significance due to the complex, systemic, transactional nature of development. Prior history is part of current context, playing a role in selection, engagement, and interpretation of subsequent experience and in the use of available environmental supports. Finally, except in very extreme cases, early anxious attachment is not viewed as psychopathology itself or as a direct cause of psychopathology but as an initiator of pathways probabilistically associated with later pathology. PMID:10208353

  13. Inquiry cantos: poetics of developmental disability.

    Science.gov (United States)

    Smith, P

    2001-10-01

    Postmodern thought is increasingly critical of foundations central to modern, positivist research into the lives of people labeled as having so-called developmental disabilities and mental retardation. This approach has brought about changes in how developmental disability is both understood and, ultimately, created. Responding to what has been called the postmodern turn, some disability studies scholars are choosing to represent their work in alternative textual formats, including poetry and fiction. These texts, representing multiple subjectivities, offer ways to explicate, problematize, and reconstruct new ways of understanding so-called developmental disability that are complex and plural. Examples of alternative research texts are provided from a recent qualitative research project with self-advocates and their construction of choice, control, and power.

  14. Developmental sequence of Cambrian embryo Markuelia

    Institute of Scientific and Technical Information of China (English)

    DONG XiPing

    2007-01-01

    Based on more exquisitely preserved specimens of Markuelia hunanensis recently recovered from Middle and Upper Cambrian in western Hunan and in the light of Synchrotron radiation X-ray tomographic microscopy, the developmental sequence from cleavage through organogenesis to the pre-hatching of Cambrian embryo Markuelia, especially the developmental sequence during the pre-hatching stage, i.e. from the earliest period when the scalids and tail spines only took shape to the latest period (just about hatching), is established. This developmental sequence provides a pattern of embryonic development during the pre-hatching stage, which has not been established in the living scalidophorans (priapulids, Ioriciferans and kinorhynchs). Thus, it not only enriches our knowledge on the embryonic development of the extant descendants of Markuelia, but also opens a new window to the evolution and development of the animal.

  15. Early origin of the bilaterian developmental toolkit

    Science.gov (United States)

    Erwin, Douglas H.

    2009-01-01

    Whole-genome sequences from the choanoflagellate Monosiga brevicollis, the placozoan Trichoplax adhaerens and the cnidarian Nematostella vectensis have confirmed results from comparative evolutionary developmental studies that much of the developmental toolkit once thought to be characteristic of bilaterians appeared much earlier in the evolution of animals. The diversity of transcription factors and signalling pathway genes in animals with a limited number of cell types and a restricted developmental repertoire is puzzling, particularly in light of claims that such highly conserved elements among bilaterians provide evidence of a morphologically complex protostome–deuterostome ancestor. Here, I explore the early origination of elements of what became the bilaterian toolkit, and suggest that placozoans and cnidarians represent a depauperate residue of a once more diverse assemblage of early animals, some of which may be represented in the Ediacaran fauna (c. 585–542 Myr ago). PMID:19571245

  16. Report to Congress on abnormal occurrences, July-September 1986

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event which the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from July 1 to September 30, 1986. The report states that for this reporting period, there were four abnormal occurrences at the nuclear power plants licensed to operate. The events were (1) a differential pressure switch problem in safety systems at LaSalle facility, (2) abnormal cooldown and depressurization transient at Catawba Unit 2, (3) significant safeguards deficiencies at Wolf Creek and Fort St. Vrain, and (4) significant deficiencies in access controls at River Bend Station. There was one abnormal occurrence at the other NRC licensees; it involved a therapeutic medical misadministration. There was one abnormal occurrence reported by an Agreement State; it involved a therapeutic medical misadministration. The report also contains information updating some previously reported abnormal occurrences

  17. Report to Congress on abnormal occurrences, July--September 1989

    International Nuclear Information System (INIS)

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as an unscheduled incident or event that the Nuclear Regulatory Commission determines to be significant from the standpoint of public health or safety and requires a quarterly report of such events to be made to Congress. This report covers the period from July 1 to September 30, 1989. For this reporting period, there were five abnormal occurrences. One abnormal occurrence took place at a licensed nuclear power plant and involved significant deficiencies associated with the containment recirculation sump at the Trojan facility. The other four abnormal occurrences took place under other NRC-issued licenses: the first involved a medical diagnostic misadministration; the second involved a medical therapy misadministration; the third involved a radiation overexposure of a radiographer; and the fourth involved a significant breakdown and careless disregard of the radiation safety program at three of a licensee's manufacturing facilities. The Agreement States reported no abnormal occurrences during the reporting period. The report also contains information that updates some previously reported abnormal occurrences. 17 refs

  18. Characterization of abnormal grain coarsening in Alloy 718

    Directory of Open Access Journals (Sweden)

    Watson Richard

    2014-01-01

    Full Text Available Even though the phenomenon of abnormal grain coarsening (AGC or “exploded grains” has been known to occur in Alloy 718 industrial forgings there is still no satisfactory explanation for it. For this reason, detailed microstructure analysis has been carried out in normal and abnormal regions. Electron Backscatter Diffraction (EBSD was employed to determine grain size, boundary distribution and measure stored energy, while backscattered imagining in a FEGSEM was used to measure δ precipitate size and morphology. It was found that abnormal regions show almost 3 times as many twin boundaries compared to a normal region. In addition, the δ phase morphologies differ very significantly when comparing these two different regions. Normal regions display δ phase with a plate like nature, whereas in abnormal regions, δ particles appear to be more spherical. Furthermore, there are clear indications of differences in δ volume fractions between the two regions. Whilst in normal regions the δ phase is found predominantly at grain boundaries, in abnormal regions the δ is also found within grains. Both backscatter images and EBSD scans indicate that there are higher levels of stored energy within the normal regions, compared to the abnormal regions. These observations suggest that AGC occurs in regions where dynamic recrystallization does not happen and where recrystallization during solution heat treatment is affected by the local particle distribution.

  19. Altered dopamine ontogeny in the developmentally vitamin D deficient rat and its relevance to schizophrenia

    Directory of Open Access Journals (Sweden)

    James P. Kesby

    2013-07-01

    Full Text Available Schizophrenia is a heterogeneous group of disorders with unknown aetiology. Although abnormalities in multiple neurotransmitter systems have been linked to schizophrenia, alterations in dopamine neurotransmission remain central to the treatment of this disorder. Given that schizophrenia is considered a neurodevelopmental disorder we have hypothesised that abnormal dopamine signalling in the adult patient may result from altered dopamine signalling during foetal brain development. Environmental and genetic risk factors can be modelled in rodents to allow for the investigation of early neurodevelopmental pathogenesis that may lead to clues into the aetiology of schizophrenia. To address this we created an animal model of one such risk factor, developmental vitamin D (DVD deficiency. DVD-deficient adult rats display an altered behavioural profile in response to dopamine releasing and blocking agents that are reminiscent of that seen in schizophrenia patients. Furthermore, developmental studies revealed that DVD deficiency also altered cell proliferation, apoptosis and neurotransmission across the embryonic brain. In particular, DVD deficiency reduces the expression of crucial dopaminergic specification factors and alters dopamine metabolism in the developing brain. We speculate such alterations in foetal brain development may change the trajectory of dopamine neuron ontogeny to induce the behavioural abnormalities observed in adult offspring. The widespread evidence that both dopaminergic and structural changes are present in people who develop schizophrenia prior to onset also suggest that early alterations in development are central to the disease. Taken together, early alterations in dopamine ontogeny may represent a core feature in the pathology of schizophrenia. Such a mechanism could bring together evidence from multiple risk factors and genetic vulnerabilities to form a convergent pathway in disease pathophysiology.

  20. General developmental health in the VPA-rat model of autism

    Directory of Open Access Journals (Sweden)

    Monica Regina Favre

    2013-07-01

    Full Text Available Autism is a neurodevelopmental condition diagnosed by impaired social interaction, abnormal communication and, stereotyped behaviors. While post-mortem and imaging studies have provided good insights into the neurobiological symptomology of autism, animal models can be used to study the neuroanatomical, neurophysiological and molecular mediators in more detail and in a more controlled environment. The valproic acid (VPA rat model is an environmentally triggered model with strong construct and clinical validity. It is based on VPA teratogenicity in humans, where mothers who are medicated with VPA during early pregnancy show an increased risk for giving birth to an autistic child. In rats, early embryonic exposure, around the time of neural tube closure, leads to autism-like anatomical and behavioral abnormalities in the offspring. Considering the increasing use of the VPA rat model, we present our observations of the general health of Wistar dams treated with a single intraperitoneal injection of 500 or, 600 mg/kg VPA on embryonic day E12.5, as well as their male and female offspring, in comparison to saline-exposed controls. We report increased rates of complete fetal reabsorption after both VPA doses. VPA 500 mg/kg showed no effect on dam body weight during pregnancy or, on litter size. Offspring exposed to VPA 500 mg/kg showed smaller brain mass on postnatal days 1 (P1 and 14 (P14, in addition to abnormal nest seeking behavior at P10 in the olfactory discrimination test, relative to controls. We also report increased rates of physical malformations in the offspring, rare occurrences of chromodacryorrhea and, developmentally similar body mass gain. Further documentation of developmental health may guide sub-grouping of individuals in a way to better predict core symptom severity.

  1. Directional motion contrast sensitivity in developmental dyslexia.

    Science.gov (United States)

    Slaghuis, Walter L; Ryan, John F

    2006-10-01

    The present study compared the perception of visual motion in two dyslexia classification schemes; the [Boder, E. (1973). Developmental dyslexia: a diagnostic approach based on three atypical reading-spelling patterns. Developmental Medicine and Child Neurology, 15, 663-687.] dyseidetic, dysphonetic and mixed subgroups and [Williams, M. J., Stuart, G. W., Castles, A., & McAnally, K. I. (2003). Contrast sensitivity in subgroups of developmental dyslexia. Vision Research, 43, 467-477.] surface, phonological and mixed subgroups by measuring the contrast sensitivity for drifting gratings at three spatial frequencies (1.0, 4.0, and 8.0 c/deg) and five drift velocities (0.75, 3.0, 6.0, 12.0, and 18.0 cyc/s) in a sample of 32 children with dyslexia and 32 matched normal readers. The findings show that there were no differences in motion direction perception between normal readers and the group with dyslexia when dyslexia was taken as a homogeneous group. Motion direction perception was found to be intact in the dyseidetic and surface dyslexia subgroups and significantly lowered in both mixed dyslexia subgroups. The one inconsistency in the findings was that motion direction perception was significantly lowered in the [Boder, E. (1973). Developmental dyslexia: a diagnostic approach based on three atypical reading-spelling patterns. Developmental Medicine and Child Neurology, 15, 663-687.] dysphonetic subgroup and intact in the [Williams, M. J., Stuart, G. W., Castles, A., & McAnally, K. I. (2003). Contrast sensitivity in subgroups of developmental dyslexia. Vision Research, 43, 467-477.] phonological subgroup. The findings also provide evidence for the presence of a disorder in sequential and temporal order processing that appears to reflect a difficulty in retaining sequences of non-meaningful auditory and visual stimuli in short-term working memory in children with dyslexia.

  2. Developmental Stages in Dynamic Plant Growth Models

    Science.gov (United States)

    Maclean, Heather; Dochain, Denis; Waters, Geoff; Stasiak, Michael; Dixon, Mike; Van Der Straeten, Dominique

    2011-09-01

    During the growth of red beet plants in a closed environment plant growth chamber, a change in metabolism was observed (decreasing photosynthetic quotient) which was not predicted by a previously developed simple dynamic model of photosynthesis and respiration reactions. The incorporation of developmental stages into the model allowed for the representation of this change in metabolism without adding unnecessary complexity. Developmental stages were implemented by dividing the model into two successive sub-models with independent yields. The transition between the phases was detected based on online measurements. Results showed an accurate prediction of carbon dioxide and oxygen fluxes.

  3. Developmental neurotoxicity of propylthiouracil in rats

    DEFF Research Database (Denmark)

    Petersen, Marta Axelstad; Hansen, Pernille Reimer; Christiansen, Sofie;

    2007-01-01

    early in pregnancy may cause adverse effects on the offspring. This has led to increased concern about thyroid hormone disrupting chemicals (TDCs) in our environment. We have studied how developmental exposure to the known antithyroid agent propylthiouracil (PTU) affects the development of rat pups. The...... overall aim was to provide detailed knowledge on the relationship between effects on thyroid hormone levels and long-lasting developmental neurotoxicity effects. Groups of 16–18 pregnant rats (HanTac:WH) were dosed with PTU (0, 0.8, 1.6 or 2.4 mg/(kg day)) from gestation day 7 to postnatal day (PND) 16...

  4. Developmental intervention: a pediatric clinical review.

    Science.gov (United States)

    Casey, P H; Bradley, R H; Caldwell, B M; Edwards, D R

    1986-08-01

    We have attempted to review developmental intervention for pediatricians in a way that is of clinical relevance to primary care pediatricians. In so doing, we chose not to evaluate certain topics such as therapeutic intervention for handicapped children or center-based educational programs because these have been adequately addressed elsewhere. It is clear that pediatricians have a unique and important role to play in developmental intervention for the following reasons: pediatricians have easy and routinely accepted access to infants and families in the prenatal, perinatal, and preschool periods: pediatricians possess a socially accepted role of authority; and pediatricians can integrate understanding of the child's health and developmental status within the context of the family and social environment to make clinical interpretation regarding the child's developmental status and prognosis. Pediatricians are thus in the best position to convince parents of their impact on their child's development. The following general roles have been identified for pediatricians. First, pediatricians should be aware of the child's biologic status and family environmental situation and the relative degree of risk for developmental problems. This clinical awareness, in combination with the use of appropriate screening instruments of the child's development and family environment, will allow clinical judgment regarding the frequency and type of child health supervision, the need for further diagnostic evaluation, and the need for referral to intervention programs and other resources. Second, the pediatrician should develop an approach for developmental intervention for all children, whatever their degree of biological risk. This review of medical, educational, and psychological literature demonstrate the following recurring important themes as goals for primary intervention: Improve parental understanding of normal child development and developmental expectations. Assist parent

  5. The mechanism of Abnormal Savda Munziq for the treatment of Abnormal Savda Syndrome in Greek-Uighur medicine:a systematic review

    Institute of Scientific and Technical Information of China (English)

    Mikhail Baranov; Dubrovin Denis; Igor Gogol; Nurmuhammat Amat; Halmurat Upur

    2014-01-01

    Abnormal Savda Munziq is a well‐known complex prescription of TUM for adjust and regulate Abnormal Savda ,and widely used in the prevention and treatment of many chronic diseases such as cancer , hypertension ,diabetes mellitus ,and memory dysfunction ,the diseases which are associated with Abnor‐mal Savda and w hose symptomatic expression is know n as abnormal Savda Syndrome .In this review ,we discuss the possible mechanism of Abnormal Savda Munziq for the treatment of Abnormal Savda Syndrome .

  6. On the importance of evolution to developmental psychobiology.

    Science.gov (United States)

    Hill, W L

    1995-03-01

    The term developmental psychobiology implies an integration between psychology and biology. But what segment of biology does the discipline embrace? The present commentary asserts that developmental psychobiology devotes too much attention to structural biology, with its emphasis on proximate mechanisms, and fails to give enough prominence to evolutionary biology and ultimate perspectives. I have attempted to portray the significance of evolution to developmental psychobiology and to elaborate on how developmental psychobiology might contribute to refinements in evolutionary theory, especially recent modifications that advocate a greater role for developmental processes. Methodological suggestions are offered, which would broaden developmental psychobiology's perspective so that a more comprehensive analysis of behavioral development results.

  7. Identification of Chromosome Abnormalities in Subtelomeric Regions by Microarray Analysis: A Study of 5,380 Cases

    Science.gov (United States)

    Shao, Lina; Shaw, Chad A.; Lu, Xin-Yan; Sahoo, Trilochan; Bacino, Carlos A.; Lalani, Seema R.; Stankiewicz, Pawel; Yatsenko, Svetlana A.; Li, Yinfeng; Neill, Sarah; Pursley, Amber N.; Chinault, A. Craig; Patel, Ankita; Beaudet, Arthur L.; Lupski, James R.; Cheung, Sau W.

    2009-01-01

    Subtelomeric imbalances are a significant cause of congenital disorders. Screening for these abnormalities has traditionally utilized GTG-banding analysis, fluorescence in situ hybridization (FISH) assays, and multiplex ligation-dependent probe amplification. Microarray-based comparative genomic hybridization (array-CGH) is a relatively new technology that can identify microscopic and submicroscopic chromosomal imbalances. It has been proposed that an array with extended coverage at subtelomeric regions could characterize subtelomeric aberrations more efficiently in a single experiment. The targeted arrays for chromosome microarray analysis (CMA), developed by Baylor College of Medicine, have on average 12 BAC/PAC clones covering 10 Mb of each of the 41 subtelomeric regions. We screened 5,380 consecutive clinical patients using CMA. The most common reasons for referral included developmental delay (DD), and/or mental retardation (MR), dysmorphic features (DF), multiple congenital anomalies (MCA), seizure disorders (SD), and autistic, or other behavioral abnormalities. We found pathogenic rearrangements at subtelomeric regions in 236 patients (4.4%). Among these patients, 103 had a deletion, 58 had a duplication, 44 had an unbalanced translocation, and 31 had a complex rearrangement. The detection rates varied among patients with a normal karyotype analysis (2.98%), with an abnormal karyotype analysis (43.4%), and with an unavailable or no karyotype analysis (3.16%). Six patients out of 278 with a prior normal subtelomere-FISH analysis showed an abnormality including an interstitial deletion, two terminal deletions, two interstitial duplications, and a terminal duplication. In conclusion, genomic imbalances at subtelomeric regions contribute significantly to congenital disorders. Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances. PMID

  8. Abnormal Mammary Development in 129:STAT1-Null Mice is Stroma-Dependent.

    Directory of Open Access Journals (Sweden)

    Jane Q Chen

    Full Text Available Female 129:Stat1-null mice (129S6/SvEvTac-Stat1(tm1Rds homozygous uniquely develop estrogen-receptor (ER-positive mammary tumors. Herein we report that the mammary glands (MG of these mice have altered growth and development with abnormal terminal end buds alongside defective branching morphogenesis and ductal elongation. We also find that the 129:Stat1-null mammary fat pad (MFP fails to sustain the growth of 129S6/SvEv wild-type and Stat1-null epithelium. These abnormalities are partially reversed by elevated serum progesterone and prolactin whereas transplantation of wild-type bone marrow into 129:Stat1-null mice does not reverse the MG developmental defects. Medium conditioned by 129:Stat1-null epithelium-cleared MFP does not stimulate epithelial proliferation, whereas it is stimulated by medium conditioned by epithelium-cleared MFP from either wild-type or 129:Stat1-null females having elevated progesterone and prolactin. Microarrays and multiplexed cytokine assays reveal that the MG of 129:Stat1-null mice has lower levels of growth factors that have been implicated in normal MG growth and development. Transplanted 129:Stat1-null tumors and their isolated cells also grow slower in 129:Stat1-null MG compared to wild-type recipient MG. These studies demonstrate that growth of normal and neoplastic 129:Stat1-null epithelium is dependent on the hormonal milieu and on factors from the mammary stroma such as cytokines. While the individual or combined effects of these factors remains to be resolved, our data supports the role of STAT1 in maintaining a tumor-suppressive MG microenvironment.

  9. Abnormal placental development and early embryonic lethality in EpCAM-null mice.

    Directory of Open Access Journals (Sweden)

    Keisuke Nagao

    Full Text Available BACKGROUND: EpCAM (CD326 is encoded by the tacstd1 gene and expressed by a variety of normal and malignant epithelial cells and some leukocytes. Results of previous in vitro experiments suggested that EpCAM is an intercellular adhesion molecule. EpCAM has been extensively studied as a potential tumor marker and immunotherapy target, and more recent studies suggest that EpCAM expression may be characteristic of cancer stem cells. METHODOLOGY/PRINCIPAL FINDINGS: To gain insights into EpCAM function in vivo, we generated EpCAM -/- mice utilizing an embryonic stem cell line with a tacstd1 allele that had been disrupted. Gene trapping resulted in a protein comprised of the N-terminus of EpCAM encoded by 2 exons of the tacstd1 gene fused in frame to betageo. EpCAM +/- mice were viable and fertile and exhibited no obvious abnormalities. Examination of EpCAM +/- embryos revealed that betageo was expressed in several epithelial structures including developing ears (otocysts, eyes, branchial arches, gut, apical ectodermal ridges, lungs, pancreas, hair follicles and others. All EpCAM -/- mice died in utero by E12.5, and were small, developmentally delayed, and displayed prominent placental abnormalities. In developing placentas, EpCAM was expressed throughout the labyrinthine layer and by spongiotrophoblasts as well. Placentas of EpCAM -/- embryos were compact, with thin labyrinthine layers lacking prominent vascularity. Parietal trophoblast giant cells were also dramatically reduced in EpCAM -/- placentas. CONCLUSION: EpCAM was required for differentiation or survival of parietal trophoblast giant cells, normal development of the placental labyrinth and establishment of a competent maternal-fetal circulation. The findings in EpCAM-reporter mice suggest involvement of this molecule in development of vital organs including the gut, kidneys, pancreas, lungs, eyes, and limbs.

  10. Developmental regulation of GABAergic signalling in the hippocampus of neuroligin 3 R451C knock-in mice: an animal model of Autism

    OpenAIRE

    Pizzarelli, Rocco; Cherubini, Enrico

    2013-01-01

    Autism Spectrum Disorders (ASDs) comprise an heterogeneous group of neuro-developmental abnormalities, mainly of genetic origin, characterized by impaired social interactions, communications deficits, and stereotyped behaviors. In a small percentage of cases, ASDs have been found to be associated with single mutations in genes involved in synaptic function. One of these involves the postsynaptic cell adhesion molecule neuroligin (NL) 3. NLs interact with presynaptic neurexins (Nrxs) to ensure...

  11. Developmental regulation of GABAergic signalling in the hippocampus of neuroligin 3 R451C knock-in mice: an animal model of Autism

    OpenAIRE

    Rocco ePizzarelli; Enrico eCherubini

    2013-01-01

    Autism Spectrum Disorders (ASDs) comprise an heterogeneous group of neuro-developmental abnormalities, mainly of genetic origin, characterized by impaired social interactions, communications deficits and stereotyped behaviors. In a small percentage of cases, ASDs have been found to be associated with single mutations in genes involved in synaptic function. One of these involves the postsynaptic cell adhesion molecule neuroligin (NL) 3. NLs interact with presynaptic neurexins (Nrxs) to ensure ...

  12. Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

    OpenAIRE

    Bloch-Zupan, Agnès; Jamet, Xavier; Etard, Christelle; Laugel, Virginie; Muller, Jean; Geoffroy, Véronique; Strauss, Jean-Pierre; Pelletier, Valérie; Marion, Vincent; Poch, Olivier; Strahle, Uwe; Stoetzel, Corinne; Dollfus, Hélène

    2011-01-01

    Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter. The two affected children were found to carry a homozygous mutation in SMOC2. Knockdown of smoc2 in zebrafish showed pharyngeal teeth that...

  13. The Correlation between Electroencephalography Amplitude and Interictal Abnormalities: Audit study

    Directory of Open Access Journals (Sweden)

    Sami F. Al-Rawas

    2014-10-01

    Full Text Available Objectives: The aim of this study was to establish the relationship between background amplitude and interictal abnormalities in routine electroencephalography (EEG. Methods: This retrospective audit was conducted between July 2006 and December 2009 at the Department of Clinical Physiology at Sultan Qaboos University Hospital (SQUH in Muscat, Oman. A total of 1,718 electroencephalograms (EEGs were reviewed. All EEGs were from patients who had been referred due to epilepsy, syncope or headaches. EEGs were divided into four groups based on their amplitude: group one ≤20 μV; group two 21–35 μV; group three 36–50 μV, and group four >50 μV. Interictal abnormalities were defined as epileptiform discharges with or without associated slow waves. Abnormalities were identified during periods of resting, hyperventilation and photic stimulation in each group. Results: The mean age ± standard deviation of the patients was 27 ± 12.5 years. Of the 1,718 EEGs, 542 (31.5% were abnormal. Interictal abnormalities increased with amplitude in all four categories and demonstrated a significant association (P <0.05. A total of 56 EEGs (3.3% had amplitudes that were ≤20 μV and none of these showed interictal epileptiform abnormalities. Conclusion: EEG amplitude is an important factor in determining the presence of interictal epileptiform abnormalities in routine EEGs. This should be taken into account when investigating patients for epilepsy. A strong argument is made for considering long-term EEG monitoring in order to identify unexplained seizures which may be secondary to epilepsy. It is recommended that all tertiary institutions provide EEG telemetry services.

  14. Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements

    Directory of Open Access Journals (Sweden)

    Morokuma Seiichi

    2010-08-01

    Full Text Available Abstract Background Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements. Case presentation A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth. Conclusions The findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.

  15. Reorganization of human cortical maps caused by inherited photoreceptor abnormalities.

    Science.gov (United States)

    Baseler, Heidi A; Brewer, Alyssa A; Sharpe, Lindsay T; Morland, Antony B; Jägle, Herbert; Wandell, Brian A

    2002-04-01

    We describe a compelling demonstration of large-scale developmental reorganization in the human visual pathways. The developmental reorganization was observed in rod monochromats, a rare group of congenitally colorblind individuals who virtually lack cone photoreceptor function. Normal controls had a cortical region, spanning several square centimeters, that responded to signals initiated in the all-cone foveola but was inactive under rod viewing conditions; in rod monochromats this cortical region responded powerfully to rod-initiated signals. The measurements trace a causal pathway that begins with a genetic anomaly that directly influences sensory cells and ultimately results in a substantial central reorganization. PMID:11914722

  16. Developmental Surface Dysgraphia: A Case Report.

    Science.gov (United States)

    Temple, Christine M.

    1985-01-01

    Reports a study that compared the spelling performance of a 17-year-old developmental dysgraphic of normal intelligence to that of an acquired dysgraphic. Findings indicate that both make phonologically valid errors and spell regular words better than irregular words. These performances reflect a phonological routine corresponding to that used by…

  17. Developmental Social Cognitive Neuroscience: Insights from Deafness

    Science.gov (United States)

    Corina, David; Singleton, Jenny

    2009-01-01

    The condition of deafness presents a developmental context that provides insight into the biological, cultural, and linguistic factors underlying the development of neural systems that impact social cognition. Studies of visual attention, behavioral regulation, language development, and face and human action perception are discussed. Visually…

  18. Rheumatological presentation of developmental bone diseases

    Energy Technology Data Exchange (ETDEWEB)

    Kalifa, Gabriel; Cohen, Pierre alain; Hamidou, Amine

    2000-02-01

    Developmental bone disease may be present, with rheumatological disorders as the major symptoms, even in children. The major lesions encountered are early osteo arthritis, osteo chondromatosis and vertebral involvement with two leading types, pseudo Scheuermann's disease or pseudo ankylosing spondylitis. This paper presents the different features and lists the rheumatological problems in bone dysplasia.

  19. Brain Imaging Studies of Developmental Stuttering.

    Science.gov (United States)

    Ingham, Roger J.

    2001-01-01

    A review of research on brain imaging of developmental stuttering concludes that findings increasingly point to a failure of normal temporal lobe activation during speech that may either contribute to (or is the result of) a breakdown in the sequencing of processing among premotor regions implicated in phonologic planning. (Contains references.)…

  20. Developmental plasticity, straight from the worm's mouth.

    Science.gov (United States)

    Hartenstein, Volker; Jacobs, David

    2013-11-01

    Developmental plasticity in response to environmental conditions (polyphenism) plays an important role in evolutionary theory. Analyzing the nematode taxon Pristionchus, Ragsdale et al. demonstrate that a single gene underlies the nematode's ability to develop distinct mouth forms in response to environmental changes. PMID:24209614