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Sample records for abnormalities developmental

  1. MRI of congenital and developmental abnormalities of the knee

    The knee joint is the one of the most common locations for congenital and developmental musculoskeletal abnormalities. Initial imaging of the knee joint should always begin with conventional radiographs. However, evaluation of the bone marrow, cartilaginous, ligamentous, and other soft-tissue components of the knee joint are better characterized with magnetic resonance imaging (MRI). We present the MRI findings of prevalent congenital and developmental abnormalities in the paediatric knee with particular emphasis on the components of the growing skeleton.

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

    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.

  3. The fungicide imazalil induces developmental abnormalities and alters locomotor activity during early developmental stages in zebrafish.

    Jin, Yuanxiang; Zhu, Zhihong; Wang, Yueyi; Yang, Enlu; Feng, Xiayan; Fu, Zhengwei

    2016-06-01

    The fungicide imazalil (IMZ) is used extensively to protect vegetable fields, fruit plantations and post-harvest crops from rot. Likely due to its wide-spread use, IMZ is frequently detected in vegetable, fruit, soil and even surface water samples. Even though several previous studies have reported on the neurotoxicity of IMZ, its effects on the neurobehavior of zebrafish have received little attention to date. In this study, we show that the heartbeat and hatchability of zebrafish were significantly influenced by IMZ concentrations of 300 μg L(-1) or higher. Moreover, in zebrafish larvae, locomotor behaviors such as average swimming speed and swimming distance were significantly decreased after exposure to 300 μg L(-1) IMZ for 96 h, and acetylcholinesterase (AChE) expression and activity were consistently inhibited in IMZ-treated fish. Our results further suggest that IMZ could act as a neuroendocrine disruptor by decreasing the expression of neurotoxicity-related genes such as Glial fibrillary acidic protein (Gfap), Myelin basic protein (Mbp) and Sonic hedgehog a (Shha) during early developmental stages of zebrafish. In conclusion, we show that exposure to IMZ has the potential to induce developmental toxicity and locomotor behavior abnormalities during zebrafish development. PMID:27035382

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

    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

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

    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. Incidence of developmental abnormalities among human fetuses in different regions of Belarus after the chernobyl accident

    The incidence of developmental abnormalities (DA) among 5 to 12-week human embryos collected in Minsk during abortions before the Chernobyl' accident was compared to that in Minsk, Mogilev, and southeastern districts of Gomel' and Mogilev oblasts before and after the accident. The incidence of DA among human embryos from the most radionuclide-contaminated rural regions of Belarus exceeds that of the control group and of the urban population after the Chernobyl' accident by a factor of 1.5 - 2. The mutagenic effect of irradiation is the most probable cause of the increased DA frequency. These data suggest that recording of DA in embryos obtained by medical abortions is a new promising approach to the monitoring of genetic consequences of irradiation in human populations

  7. Developmental abnormalities induced by X-irradiation in P53 deficient or heterozygous mice

    Full text: In order to assess the influence of a p53 mutation on radiation-induced developmental effects, males heterozygous for the p53 mutation (mimicking the human Li-Fraumeni syndrome) were crossed with C57BL females. Their heterozygous p53+/- progeny was mated with each other, in order to obtain p53+/- (50%), p53-/- (25 %) and p53+/+ (25 %) embryos. Pregnant females were X-irradiated with 0.5 Gy on days 1 (pre-implantation period), 8 or 11 (organogenesis period) of gestation. Dissection of the pregnant females occurred on day 19 of gestation. P53 genotype was determined by PCR from small pieces of soft foetal tissues. In non-irradiated animals, slightly less p53-/- foetuses were found upon dissection than expected, probably reflecting a predominant elimination of these embryos during gestation. Exencephaly was the only external malformation found in foetuses from non-irradiated females, affecting as much as 5 of the 91 living foetuses of this series. Four of those were p53-/- and one was p53+/-. In animals irradiated on day 1 of pregnancy, prenatal mortality was increased, predominantly affecting the p53-/- embryos. Among the 100 living foetuses obtained in this series, 2 showed exencephaly, both of them being p53-/-. This lower frequency of malformed foetuses compared to non-irradiated animals could be due to an increased elimination of p53-/- foetuses or embryos after irradiation. The proportion of living p53-/- foetuses that were obtained after irradiation on day 8 was also lower than expected, and elimination preferentially affected female foetuses. Malformations were twice as frequent as in the non-irradiated group, and predominantly affected female foetuses (73%). Abnormal foetuses were either p53-/- (6/94) or p53+/- (5/94). Interestingly, in addition to exencephaly, other various external malformations were found in this group, including cephalic oedema, gastroschisis, polydactyly and cleft palate. In foetuses irradiated on day 11 of their development

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

    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.)

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

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

    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…

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

    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

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

    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

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

    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

  14. Developmental abnormalities and neurotoxicological effects of CuO NPs on the black sea urchin Arbacia lixula by embryotoxicity assay.

    Maisano, Maria; Cappello, Tiziana; Catanese, Eva; Vitale, Valeria; Natalotto, Antonino; Giannetto, Alessia; Barreca, Davide; Brunelli, Elvira; Mauceri, Angela; Fasulo, Salvatore

    2015-10-01

    The embryotoxicity of CuO NPs was evaluated in the black sea urchin Arbacia lixula embryos, by using 24-well plates. Fertilized eggs were exposed to five doses of CuO NPs ranging from 0.07 to 20 ppb, until pluteus stage. CuO NPs suspensions in artificial seawater formed agglomerates of 80-200 nm size, and copper uptake was 2.5-fold up in larvae exposed to high NP concentrations in respect to control. Developmental delay and morphological alteration, including skeletal abnormalities, were observed, as well as impairment in cholinergic and serotonergic nervous systems. These findings suggest the potential of CuO NPs to interfere with the normal neurotransmission pathways, thus affecting larval morphogenesis. Overall, the embryotoxicity tests are effective for evaluation of nanoparticle effects on the health of aquatic biota. Furthermore, as the black sea urchin A. lixula demonstrated to be vulnerable to NP exposure, it may be a valid bioindicator in marine biomonitoring and ecotoxicological programmes. PMID:26026240

  15. ASSOCIATION OF EEG ABNORMALITY AND DEVELOPMENTAL DELAY IN PHENYLKETONURIA (PKU: AN ANALYTIC HISTORICAL CASE IN PHENYLKETONURIA (PKU: AN ANALYTIC HISTORICAL CASE-CONTROL

    Mohammad Reza AALAEI

    2010-11-01

    Full Text Available AbstractObjectiveElectroencephalogram (EEG is an easy and non invasive evaluation method for diagnosis and early prognosis in children. Our aim was to assess the association between EEG and the patients' Developmental Quotient (DQ level in phenylketonuria.Materials & MethodsIn this study, 94 PKU patients (45 boys, 49 girls; mean age: 8.5 6.2 years who were diagnosed through newborn screening tests or later were followed. PKU was confirmed with a serum phenylalanine concentration above 6 mg/ dl in untreated newborns. The patients were matched in gender, age and phenylalanine level. The ASQ (Age and Stage Questionnaire was used for evaluation of the developmental stage of the case (abnormal EEG and control (normal EEG groups and the Wechsler Intelligence Scale was used to assess cognitive and intellectual abilities. Finally, one way ANOVA and chi square tests were used for analysis and P< 0.05 was considered significant.ResultsThe case group consisted of 63 patients (67% with abnormal EEGs and the control group consisted of 31 patients (33% with normal EEGs. In patients with abnormal EEGs, 34 (53% had mild, nine (14% had moderate and 20 (33% had severe EEG changes. Distribution of high and low DQ levels in these three groups show significant difference (p=0.001. Distribution of DQ level in the abnormal and normal EEG patients showed a significant difference (p=0.001.ConclusionThere was no significant difference between phenylalanine level in case and control groups; therefore, EEG findings may affect patients' developmental scores despite a normal phenylalanine level in PKU patients.

  16. ASSOCIATION OF EEG ABNORMALITY AND DEVELOPMENTAL DELAY IN PHENYLKETONURIA (PKU: AN ANALYTIC HISTORICAL CASE IN PHENYLKETONURIA (PKU: AN ANALYTIC HISTORICAL CASE-CONTROL

    Mohammad Reza AALAEI

    2010-12-01

    Full Text Available ObjectiveElectroencephalogram (EEG is an easy and non invasive evaluation method for diagnosis and early prognosis in children. Our aim was to assess the association between EEG and the patients' Developmental Quotient (DQ level in phenylketonuria.Materials & MethodsIn this study, 94 PKU patients (45 boys, 49 girls; mean age: 8.5 6.2 years who were diagnosed through newborn screening tests or later were followed. PKU was confirmed with a serum phenylalanine concentration above 6 mg/ dl in untreated newborns. The patients were matched in gender, age and phenylalanine level. The ASQ (Age and Stage Questionnaire was used for evaluation of the developmental stage of the case (abnormal EEG and control (normal EEG groups and the Wechsler Intelligence Scale was used to assess cognitive and intellectual abilities. Finally, one way ANOVA and chi square tests were used for analysis and PResultsThe case group consisted of 63 patients (67% with abnormal EEGs and the control group consisted of 31 patients (33% with normal EEGs. In patients with abnormal EEGs, 34 (53% had mild, nine (14% had moderate and 20 (33% had severe EEG changes. Distribution of high and low DQ levels in these three groups show significant difference (p=0.001. Distribution of DQ level in the abnormal and normal EEG patients showed a significant difference (p=0.001.ConclusionThere was no significant difference between phenylalanine level in case and control groups; therefore, EEG findings may affect patients' developmental scores despite a normal phenylalanine level in PKU patients.Keywords:ASQ, Wechsler Intelligent Test, DQ, EEG, PKU

  17. 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)

    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/...

  18. 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.

    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

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

    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...

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

    Jay F; Wang Y; Yu A.; Taconnat L; Pelletier S; Colot. V; Renou JP; Voinnet O.

    2011-01-01

    In Arabidopsis, micro (mi)RNAs and trans-acting (ta-si)RNAs 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 (si)RNAs 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 inhibito...

  1. The Domain of Developmental Psychopathology.

    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)

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

    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。

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

    Jay, Florence; Wang, Yu; Yu, Agnès; Taconnat, Ludivine; Pelletier, Sandra; Colot, Vincent; Renou, Jean-Pierre; Voinnet, Olivier

    2011-05-01

    In Arabidopsis, micro (mi)RNAs and trans-acting (ta-si)RNAs 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 (si)RNAs 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 TuMV was

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

    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

  5. Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene.

    Linhares, Natália D; Svartman, Marta; Salgado, Mauro Ivan; Rodrigues, Tatiane C; da Costa, Silvia S; Rosenberg, Carla; Valadares, Eugênia R

    2014-12-01

    Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development. PMID:25606385

  6. Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

    Natália D. Linhares

    2014-12-01

    Full Text Available Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development.

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

    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

  8. 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

    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.

  9. ASSOCIATION OF EEG ABNORMALITY AND DEVELOPMENTAL DELAY IN PHENYLKETONURIA (PKU): AN ANALYTIC HISTORICAL CASE IN PHENYLKETONURIA (PKU): AN ANALYTIC HISTORICAL CASE-CONTROL

    AALAEI Mohammad Reza; KARIMZADEH, Parvaneh; Feisal RAHIMPOUR

    2010-01-01

    ObjectiveElectroencephalogram (EEG) is an easy and non invasive evaluation method for diagnosis and early prognosis in children. Our aim was to assess the association between EEG and the patients' Developmental Quotient (DQ) level in phenylketonuria.Materials & MethodsIn this study, 94 PKU patients (45 boys, 49 girls; mean age: 8.5 6.2 years) who were diagnosed through newborn screening tests or later were followed. PKU was confirmed with a serum phenylalanine concentration above 6 mg/ dl in ...

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

    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.

  11. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

    Balemans, Monique C M; Ansar, Muhammad; Oudakker, Astrid R; van Caam, Arjan P M; Bakker, Brenda; Vitters, Elly L; van der Kraan, Peter M; de Bruijn, Diederik R H; Janssen, Sanne M; Kuipers, Arthur J; Huibers, Manon M H; Maliepaard, Eliza M; Walboomers, X Frank; Benevento, Marco; Nadif Kasri, Nael; Kleefstra, Tjitske; Zhou, Huiqing; Van der Zee, Catharina E E M; van Bokhoven, Hans

    2014-02-15

    Haploinsufficiency of Euchromatin histone methyltransferase 1 (EHMT1), a chromatin modifying enzyme, is the cause of Kleefstra syndrome (KS). KS is an intellectual disability (ID) syndrome, with general developmental delay, hypotonia, and craniofacial dysmorphisms as additional core features. Recent studies have been focused on the role of EHMT1 in learning and memory, linked to the ID phenotype of KS patients. In this study we used the Ehmt1(+/-) mouse model, and investigated whether the core features of KS were mimicked in these mice. When comparing Ehmt1(+/-) mice to wildtype littermates we observed delayed postnatal growth, eye opening, ear opening, and upper incisor eruption, indicating a delayed postnatal development. Furthermore, tests for muscular strength and motor coordination showed features of hypotonia in young Ehmt1(+/-) mice. Lastly, we found that Ehmt1(+/-) mice showed brachycephalic crania, a shorter or bent nose, and hypertelorism, reminiscent of the craniofacial dysmorphisms seen in KS. In addition, gene expression analysis revealed a significant upregulation of the mRNA levels of Runx2 and several other bone tissue related genes in P28 Ehmt1(+/-) mice. Runx2 immunostaining also appeared to be increased. The mRNA upregulation was associated with decreased histone H3 lysine 9 dimethylation (H3K9me2) levels, the epigenetic mark deposited by Ehmt1, in the promoter region of these genes. Together, Ehmt1(+/-) mice indeed recapitulate KS core features and can be used as an animal model for Kleefstra syndrome. The increased expression of bone developmental genes in the Ehmt1(+/-) mice likely contributes to their cranial dysmorphisms and might be explained by diminished Ehmt1-induced H3K9 dimethylation. PMID:24362066

  12. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

    Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica; Gripp, Karen W; Anderson, Carol; Aylsworth, Arthur S; Saad, Taha Ben; Chizhikov, Victor V; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, Elizabeth; Huggins, Marlene; Ladda, Roger; Li, Chumei; Moeschler, John; Nowaczyk, Malgorzata J M; Ozmore, Jillian R; Reitano, Santina; Romano, Corrado; Roos, Laura; Schnur, Rhonda E; Sell, Susan; Suwannarat, Pim; Svaneby, Dea; Szybowska, Marta; Tarnopolsky, Mark; Tervo, Raymond; Tsai, Anne Chun-Hui; Tucker, Megan; Vallee, Stephanie; Wheeler, Ferrin C; Zand, Dina J; Barkovich, A James; Aradhya, Swaroop; Shaffer, Lisa G; Dobyns, William B

    2013-08-01

    Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. A recently described duplication syndrome involving this region has been associated with intellectual impairment, autism and occasional brain MRI abnormalities. We report 34 additional patients from 21 families to further delineate the clinical, neurological, behavioral, and brain imaging findings. We found a highly diverse phenotype with inter- and intrafamilial variability, especially in cognitive development. The most specific phenotype occurred in individuals with large duplications that include both the YWHAE and LIS1 genes. These patients had a relatively distinct facial phenotype and frequent structural brain abnormalities involving the corpus callosum, cerebellar vermis, and cranial base. Autism spectrum disorders were seen in a third of duplication probands, most commonly in those with duplications of YWHAE and flanking genes such as CRK. The typical neurobehavioral phenotype was usually seen in those with the larger duplications. We did not confirm the association of early overgrowth with involvement of YWHAE and CRK, or growth failure with duplications of LIS1. Older patients were often overweight. Three variant phenotypes included cleft lip/palate (CLP), split hand/foot with long bone deficiency (SHFLD), and a connective tissue phenotype resembling Marfan syndrome. The duplications in patients with clefts appear to disrupt ABR, while the SHFLD phenotype was associated with duplication of BHLHA9 as noted in two recent reports. The connective tissue phenotype did not have a convincing critical region. Our experience with this large cohort expands knowledge of this diverse duplication syndrome. PMID:23813913

  13. Developmental dyslexia.

    Démonet, Jean-François; Taylor, Margot J; Chaix, Yves

    2004-05-01

    Developmental dyslexia, or specific reading disability, is a disorder in which children with normal intelligence and sensory abilities show learning deficits for reading. Substantial evidence has established its biological origin and the preponderance of phonological disorders even though important phenotypic variability and comorbidity have been recorded. Diverse theories have been proposed to account for the cognitive and neurological aspects of dyslexia. Findings of genetic studies show that different loci affect specific reading disability although a direct relation has not been established between symptoms and a given genomic locus. In both children and adults with dyslexia, results of neuroimaging studies suggest defective activity and abnormal connectivity between regions crucial for language functions--eg, the left fusiform gyrus for reading--and changes in brain activity associated with performance improvement after various remedial interventions. PMID:15121410

  14. Congenital Abnormalities

    ... blood flow to the fetus impair fetal growth. Alcohol consumption and certain drugs during pregnancy significantly increase the risk that a baby will be born with abnormalities (e.g. fetal alcohol spectrum disorders ). Eating raw or uncooked foods during pregnancy can also be dangerous to health of the ...

  15. Developmental Dyspraxia

    ... 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 ...

  16. 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)

    FREDERICK H C HOTCHKISS

    2000-01-01

    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 raram...

  17. Progress and unresolved issues in developmental psychopathology

    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

  18. Specific language impairment as systemic developmental disorders

    Parisse, Christophe; Maillart, Christelle

    2009-01-01

    Specific Language Impairment (SLI) is a disorder characterised by slow, abnormal language development.Most children with this disorder do not present any other cognitive or neurological deficits. Thereare many different pathological developmental profiles and switches from one profile to another oftenoccur. An alternative would be to consider SLI as a generic name covering three developmental languagedisorders: developmental verbal dyspraxia, linguistic dysphasia, and pragmatic language impai...

  19. 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

    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

  20. Developmental Disabilities

    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down ...

  1. Urine - abnormal color

    ... 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 ...

  2. Developmental orthopaedic diseases in foals

    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

  3. Models of Neurodevelopmental Abnormalities in Schizophrenia

    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...

  4. Developmental Work

    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...

  5. Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

    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.

  6. Urine - abnormal color

    The usual color of urine is straw-yellow. Abnormally colored urine may be cloudy, dark, or blood-colored. ... Abnormal urine color may be caused by infection, disease, medicines, or food you eat. Cloudy or milky urine is a sign ...

  7. USING THE MEDAKA EMBRYO ASSAY TO INVESTIGATE DEVELOPMENTAL ETHANOL TOXICITY.

    Ethanol (EtOH) is a well-known developmental toxicant that produces a range of abnormal phenotypes. While the toxic potential of developmental EtOH exposure is well characterized, the effect of the timing of exposure on the extent of toxicity remains unknown. Fish models such as ...

  8. Chromosomal Abnormalities in ADHD

    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.

  9. Chromosomal abnormalities and autism

    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.

  10. Developmental Scaffolding

    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...

  11. Chromosomal abnormalities in a psychiatric population

    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.

  12. Developmental dyslexia.

    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

  13. Neurological abnormalities predict disability

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

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination...... abnormality independently predicted transition to disability or death [HR (95 % CI) 1.53 (1.01-2.34)]. The hazard increased with increasing number of abnormalities. Among MRI lesions, only ARWMC of severe grade independently predicted disability or death [HR (95 % CI) 2.18 (1.37-3.48)]. In our cohort...

  14. Developmental dyslexia.

    Peterson, Robin L; Pennington, Bruce F

    2012-05-26

    Dyslexia is a neurodevelopmental disorder that is characterised by slow and inaccurate word recognition. Dyslexia has been reported in every culture studied, and mounting evidence draws attention to cross-linguistic similarity in its neurobiological and neurocognitive bases. Much progress has been made across research specialties spanning the behavioural, neuropsychological, neurobiological, and causal levels of analysis in the past 5 years. From a neuropsychological perspective, the phonological theory remains the most compelling, although phonological problems also interact with other cognitive risk factors. Work confirms that, neurobiologically, dyslexia is characterised by dysfunction of the normal left hemisphere language network and also implicates abnormal white matter development. Studies accounting for reading experience demonstrate that many recorded neural differences show causes rather than effects of dyslexia. Six predisposing candidate genes have been identified, and evidence shows gene by environment interaction. PMID:22513218

  15. Neonatal White Matter Abnormality Predicts Childhood Motor Impairment in Very Preterm Children

    Spittle, Alicia J.; Cheong, Jeanie; Doyle, Lex W.; Roberts, Gehan; Lee, Katherine J.; Lim, Jeremy; Hunt, Rod W.; Inder, Terrie E.; Anderson, Peter J.

    2011-01-01

    Aim: Children born very preterm are at risk for impaired motor performance ranging from cerebral palsy (CP) to milder abnormalities, such as developmental coordination disorder. White matter abnormalities (WMA) at term have been associated with CP in very preterm children; however, little is known about the impact of WMA on the range of motor…

  16. Hippocampal Shape Abnormalities of Patients with Childhood-Onset Schizophrenia and Their Unaffected Siblings

    Johnson, Sarah L. M.; Wang, Lei; Alpert, Kathryn I.; Greenstein, Deanna; Clasen, Liv; Lalonde, Francois; Miller, Rachel; Rapoport, Judith; Gogtay, Nitin

    2013-01-01

    Objective: The hippocampus has been implicated in the pathogenesis of schizophrenia, and hippocampal volume deficits have been a consistently reported abnormality, but the subregional specificity of the deficits remains unknown. The authors explored the nature and developmental trajectory of subregional shape abnormalities of the hippocampus in…

  17. CT of pleural abnormalities

    Briefly discussed were CT diagnosis of pleural thickening, CT technique for examining the pleura or pleuro-pulmonary disease, diagnosis of pleural collections, diagnosis of pleural fluid abnormalities in patients with pneumonia, pleural neoplasms, malignant (diffuse) mesothelioma, metastases, local fibrous tumor of the pleura (benign mesothelioma) (21 refs.)

  18. Developmental dyspraxia and developmental coordination disorder.

    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

  19. Abnormal ionization in sonoluminescence

    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.

  20. Ultrasonography of splenic abnormalities

    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.

  1. 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

    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

  2. Developmental reading disorder

    ... 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 ...

  3. Neuronal migration abnormalities and its possible implications for schizophrenia

    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 ...

  4. Holoprosencephaly: An update on cytogenetic abnormalities. : holoprosencephaly and cytogenetics

    Bendavid, Claude; Dupé, Valérie; Rochard, Lucie; Gicquel, Isabelle; Dubourg, Christèle; David, Véronique

    2010-01-01

    Holoprosencephaly (HPE), the most common developmental defect of the forebrain and midface, is caused by a failure of midline cleavage early in gestation. Isolated HPE, which is highly genetically heterogeneous, can be due to major chromosomal abnormalities. Initially, karyotype approach led to the identification of several recurrent chromosomal anomalies predicting different HPE loci. Subsequently, several genes were isolated from these critical HPE regions, but point mutations and deletions...

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

    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...

  6. Developmental disorders of the proximal epiphysis of the hallux

    The development and developmental variation of the proximal epiphysis of the hallux have been studied in 1,500 children who presented to the Emergency Department with minor injuries. An abnormality was present in 3.5% of the children representing epiphyseal fragmentation, sclerosis, cone-shaped epiphysis, and trauma. Those subjects with developmental anomalies were reviewed clinically and 25% of those with epiphyseal fragmentation were found to be suffering from hallux rigidus. The radiological features and clinical considerations are presented. (orig.)

  7. What is developmental dyspraxia?

    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

  8. MRI of a family with focal abnormalities of gyration

    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

  9. Systemic abnormalities in liver disease

    Minemura, Masami; Tajiri, Kazuto; Shimizu, Yukihiro

    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.

  10. [Walking abnormalities in children].

    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

  11. Early Symptoms and Recognition of Pervasive Developmental Disorders in Germany

    Noterdaeme, Michele; Hutzelmeyer-Nickels, Anna

    2010-01-01

    Pervasive developmental disorders are characterised by the presence of abnormalities in social interaction and communication as well as repetitive patterns of behaviours. Although early symptoms of the disorder often appear during the first two years of life, its diagnosis is often delayed. The purpose of this study is to analyse the delay between…

  12. Age-related abnormalities in white matter microstructure in autism spectrum disorders

    Kleinhans, Natalia M.; Pauley, Gregory; Richards, Todd; Neuhaus, Emily; MARTIN, Nathalie; Corrigan, Neva M.; Shaw, Dennis W.; Estes, Annette; Dager, Stephen R.

    2012-01-01

    Abnormalities in structural and functional connectivity have been reported in autism spectrum disorders (ASD) across a wide age range. However, developmental changes in white matter microstructure are poorly understood. We used a cross-sectional design to determine whether white matter abnormalities measured using diffusion tensor imaging (DTI) were present in adolescents and adults with ASD and whether age-related changes in white matter microstructure differed between ASD and typically deve...

  13. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    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.

  14. Genetics and Developmental Psychology

    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…

  15. Skin - abnormally dark or light

    ... 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 ...

  16. Life Span Developmental Approach

    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.

  17. Memetics clarification of abnormal behavior

    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

  18. Thyroid abnormality in perimenopausal women with abnormal uterine bleeding

    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

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

    Jain, Nishchint; Verma, Ritu; Garga, Umesh C; Baruah, Barinder P; Jain, Sachin K; Bhaskar, Surya N

    2016-01-01

    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. PMID:27081234

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

    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.

  1. Abnormal Cervical Cancer Screening Test Results

    ... AQ FREQUENTLY ASKED QUESTIONS FAQ187 GYNECOLOGIC PROBLEMS Abnormal Cervical Cancer Screening Test Results • What is cervical cancer screening? • What causes abnormal cervical cancer screening test ...

  2. Pervasive Developmental Disorders

    ... 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 ...

  3. Facts about Developmental Disabilities

    ... 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 ...

  4. Neuroimaging abnormalities in Griscelli's disease

    Griscelli's disease is a rare autosomal recessive immunodeficiency syndrome. We report a 7-1/2-month-old white girl who presented with this syndrome, but initially without neurological abnormalities. Initial CT of the brain was normal. Despite haematological remission with chemotherapy, she developed neurological symptoms, progressing to coma. At this time, CT showed areas of coarse calcification in the globi pallidi, left parietal white matter and left brachium pontis. Hypodense areas were present in the genu and posterior limb of the internal capsule on the right side, as well as posterior aspects of both thalami, together with minimal generalised atrophy. MRI revealed areas of increased T2 signal and a focal area of abnormal enhancement in the subcortical white matter. Griscelli's disease should be added to the list of acquired neuroimaging abnormalities in infants. (orig.)

  5. Developmental Effects of Ghrelin

    Steculorum, Sophie M.; Bouret, Sebastien G.

    2011-01-01

    Ghrelin is a pleiotropic hormone that was originally described as promoting feeding and stimulating growth hormone release in adults. A growing body of evidence suggests that ghrelin may also exert developmental and organizational effects during perinatal life. The perinatal actions of ghrelin include the regulation of early developmental events such as blastocyst development and perinatal growth. Moreover, alterations in perinatal ghrelin levels result in structural differences in various pe...

  6. Life Span Developmental Approach

    Eryılmaz, Ali

    2011-01-01

    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...

  7. Towards Deep Developmental Learning

    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...

  8. Knee loading for abnormal gait

    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...

  9. The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field

    Mølsted, Kirsten; Boers, Maria; Kjaer, Inger

    2010-01-01

    measure the cranial base angles in individuals with VCFS and, if possible, to discover the developmental field that may be involved in the condition. The study included 33 patients with VCFS from the Copenhagen Cleft Palate Center, Denmark. The genotype was confirmed by fluorescence in situ hybridization...... aplasia, hypothyroidism, and posterior brain abnormality), suggest involvement of a specific developmental field....

  10. Sperm abnormalities in exposed humans

    Šrám, Radim; Rubeš, J.

    Cambridge : Issue in Toxicology, Royal Society of Chemistry Publ.,, 2007, s. 247-258. ISBN 978-0-85404-847-2 R&D Projects: GA MŽP SL/740/5/03 Institutional research plan: CEZ:AV0Z50390512 Keywords : air pollution exposure * sperm abnormalities * male reproductive health Subject RIV: DN - Health Impact of the Environment Quality

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

    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......). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before....

  12. The developmental spectrum of proximal radioulnar synostosis

    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

  13. The developmental spectrum of proximal radioulnar synostosis

    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 can occur in the same patient. Furthermore

  14. A study of cluster behavioral abnormalities in down syndrome

    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.

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

    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

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

    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.

  17. Echocardiographic abnormalities in hypertensive patients

    A descriptive cross-sectional study was carried out in 120 hypertensive patients with a course of 5 or more years, who went to the emergency room of 'Saturnino Lora' Provincial Teaching Hospital from November 2010 to November 2011 in order to determine the presence or absence of echocardiographic abnormalities typical of hypertension. Of these, 78,3 % was affected, most of whom reported not to continue with regular previous medical treatment, and 21,7 % had not these abnormalities. Age group of 50-60 years, males and blacks prevailed in the case material. The most significant echocardiographic findings were left ventricular hypertrophy and heart failure with ejection fraction of left ventricle preserved

  18. Is Dark Energy Abnormally Weighting?

    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...

  19. Computed tomography of thymic abnormalities

    Schnyder, P.; Candardjis, G.

    1987-05-01

    Computed tomographic examinations of 38 patients with surgically and histologically proven diagnosis were reviewed. Twenty subjects (52%) had an invasive thymoma and 16% an hyperplastic thymus. Myasthenia gravis was present in 6 cases (16%) of thymic abnormalities, four (10,5%) with invasive thymoma and two (5%) with thymic hyperplasia. Graves' disease was also present in one case of thymic hyperplasia. We emphasize the contribution of CT to the diagnosis and the prognosis.

  20. Mastoid abnormalities in Down syndrome

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development. (orig.)

  1. Computed tomography abnormalities in hanging

    The CT pattern of bilateral and symmetrical round low density areas in the globi pallidi has been observed in a young man who attempted suicide by hanging. These CT abnormalities are similar to those described in other conditions such as carbon monoxide, hydrogen sulfide, cyanide and methanol poisoning, hypoglycaemia, drowning and acute global central nervous system hypoperfusion.The findings appear to be correlated with acute cerebral hypoxia. (orig.)

  2. Cardiac abnormalities after subarachnoid hemorrhage

    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 Syndrome) that has been described after acute stress. It is a reversible cardiac dysfunction with distinct imaging features(the echocardiographic or left ventricular angiographic image resembles a Tak...

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

    van der Lely, Heather K. J.; Pinker, Steven

    2014-01-01

    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 le...

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

    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.

  5. The Abnormal Choroidal Vessels in Aged Patients

    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.

  6. Neuronal migration abnormalities and its possible implications for schizophrenia

    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.

  7. Arguments from Developmental Order.

    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

  8. Arguments from Developmental Order

    Stöckle-Schobel, Richard

    2016-01-01

    In this article1, 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

  9. The Developmental Work

    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...

  10. Developmental paediatric anaesthetic pharmacology

    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...

  11. Mammary Glands: Developmental Changes

    The mammary gland progresses from the accumulation of a few cells in the embryonic ectoderm to a highly arborescent tubulo-alveolar gland capable of secreting a highly nutritious product for consumption. Throughout this progression, various changes occur during each developmental stage: prenatal, pr...

  12. Qualitative methodology in developmental psychology

    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...

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

    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, ...

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

    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

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

    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.)

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

    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.)

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

    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.

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

    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.)

  19. Making chromosome abnormalities treatable conditions.

    Cody, Jannine DeMars; Hale, Daniel Esten

    2015-09-01

    Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions. PMID:26351122

  20. MR imaging of abnormal synovial processes

    MR imaging can directly image abnormal synovium. The authors reviewed over 50 cases with abnormal synovial processes. The abnormalities include Baker cysts, semimembranous bursitis, chronic shoulder bursitis, peroneal tendon ganglion cyst, periarticular abscesses, thickened synovium from rheumatoid and septic arthritis, and synovial hypertrophy secondary to Legg-Calve-Perthes disease. MR imaging has proved invaluable in identifying abnormal synovium, defining the extent and, to a limited degree, characterizing its makeup

  1. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH SPERM DISORDERS

    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. 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.

    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...

  3. Brain MR imaging in children with psychomotor developmental delay

    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).

  4. Brain MR imaging in children with psychomotor developmental delay

    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)

  5. Ventilation abnormalities in pulmonary embolus

    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

  6. Exosomes in developmental signalling.

    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

  7. Anomalies and developmental defects

    Amonalies and developmental defects in trachea and bronchi (tracheal bronch us, diverticulum of trachea or bronchus, defects due to atresia of bronchial tre e, tracheobronchomegaly), lung vessels (aneurisms of pulmonary artery, agenesia, aplasia and hypoplasia of pulmonary artery,anomalies of pulmonary veins, varico sis of pulmonary veins), pulmonary tissue (lung sequestration, congenital lobar pulmonary emphysema, essential hemosiderosis), have beendescribed. The problems of the diagnosis of the above-mentioned diseases using roentgenograms are consid ered

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

    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.…

  9. Abnormal Event Detection Using Local Sparse Representation

    Ren, Huamin; Moeslund, Thomas B.

    2014-01-01

    We propose to detect abnormal events via a sparse subspace clustering algorithm. Unlike most existing approaches, which search for optimized normal bases and detect abnormality based on least square error or reconstruction error from the learned normal patterns, we propose an abnormality...... 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 is...

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

    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...

  11. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    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.

  12. Abnormal Returns and Contrarian Strategies

    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.

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

    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.

  14. Adults with Chromosome 18 Abnormalities.

    Soileau, Bridgette; Hasi, Minire; Sebold, Courtney; Hill, Annice; O'Donnell, Louise; Hale, Daniel E; Cody, Jannine D

    2015-08-01

    The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child. PMID:25403900

  15. Dento-maxillofacial abnormalities caused by radiotherapy and chemotherapy

    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.

  16. Role of developmental factors in hypothalamic function

    Gil Levkowitz

    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.

  17. Differentiating the Neural Response to Intervention in Children with Developmental Dyslexia

    Odegard, Timothy N.; Ring, Jeremiah; Smith, Stephanie; Biggan, John; Black, Jeff

    2008-01-01

    Developmental dyslexia is associated with functional abnormalities within reading areas of the brain. For some children diagnosed with dyslexia, phonologically based remediation programs appear to rehabilitate brain function in key reading areas (Shaywitz et al., Biological Psychiatry 55: 101-110, 2004; Simos et al., Neuroscience 58: 1203-1213,…

  18. Schizotypy From a Developmental Perspective

    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...

  19. Lithium treatment and thyroid abnormalities

    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.

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

    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.

  1. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    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...

  2. ABNORMAL CARDIOVASCULAR REFLEXES IN PATIENTS WITH ACHALASIA

    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.

  3. Do Stock Dividends Generate Abnormal Returns?

    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...

  4. Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-02-01

    The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. Starting from 19 to 20 weeks of gestation, prenatal magnetic resonance imaging (MRI) can reliably study the developing cerebellum. Pre- and postnatal neuroimaging plays a key role in the diagnostic work-up of congenital cerebellar abnormalities. Diagnostic criteria for cerebellar malformations and disruptions are based mostly on neuroimaging findings. The diagnosis of a Dandy-Walker malformation is based on the presence of hypoplasia, elevation, and counterclockwise upward rotation of the cerebellar vermis and cystic dilatation of the fourth ventricle, which extends posteriorly filling out the posterior fossa. For the diagnosis of Joubert syndrome, the presence of the molar tooth sign (thickened, elongated, and horizontally orientated superior cerebellar peduncles and an abnormally deep interpeduncular fossa) is needed. The diagnostic criteria of rhombencephalosynapsis include a complete or partial absence of the cerebellar vermis and continuity of the cerebellar hemispheres across the midline. Unilateral cerebellar hypoplasia is defined by the complete aplasia or hypoplasia of one cerebellar hemisphere. Familiarity with these diagnostic criteria as well as the broad spectrum of additional neuroimaging findings is important for a correct pre- and postnatal diagnosis. A correct diagnosis is essential for management, prognosis, and counseling of the affected children and their family. PMID:26166429

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

    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.

  6. Developmental immunotoxicology of lead

    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

  7. Hemostatic abnormalities in liver cirrhosis

    Kendal YALÇIN

    2009-06-01

    Full Text Available In this study, 44 patients with liver cirrhosis were investigated for hemostatic parameters. Patients with spontaneous bacterial peritonitis, hepatocellular carcinoma, hepatorenal syndrome and cholestatic liver diseases were excluded. Patients were classified by Child-Pugh criterion and according to this 4 patients were in Class A, 20 in Class B and 20 in C. Regarding to these results, it was aimed to investigate the haematological disturbances in liver cirrhotic patients.In the result there was a correlation between activated partial thromboplastin time, serum iron, ferritin, transferrin, haptoglobin and Child-Pugh classification. Besides there was no correlation between prothrombin time, factor 8 and 9, protein C and S, anti-thrombin 3, fibrinogen, fibrin degradation products, serum iron binding capacity, hemoglobin, leukocyte, mean corpuscular volume and Child-Pugh classification.There were significant difference, in terms of AST, ferritin, haptoglobulin, sex and presence of ascites between groups (p0.05. In the summary, we have found correlation between hemostatic abnormalities and disease activity and clinical prognosis in patients with liver cirrhosis which is important in the management of these patients. This is also important for identification of liver transplant candidiates earlier.

  8. Sensorial abnormalities: Smell and taste

    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.

  9. Holoprosencephaly due to numeric chromosome abnormalities.

    Solomon, Benjamin D; Rosenbaum, Kenneth N; Meck, Jeanne M; Muenke, Maximilian

    2010-02-15

    Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been reported. Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE. PMID:20104610

  10. Radiologic atlas of pulmonary abnormalities in children

    This book is an atlas about thoracic abnormalities in infants and children. The authors include computed tomographic, digital subtraction angiographic, ultrasonographic, and a few magnetic resonance (MR) images. They recognize and discuss how changes in the medical treatment of premature infants and the management of infection and pediatric tumors have altered some of the appearances and considerations in these diseases. Oriented toward all aspects of pulmonary abnormalities, the book starts with radiographic techniques and then discusses the normal chest, the newborn, infections, tumors, and pulmonary vascular diseases. There is comprehensive treatment of mediastinal abnormalities and a discussion of airway abnormalities

  11. Male-mediated developmental toxicity

    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

  12. Developmental Math: What's the Answer?

    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…

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

    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)

  14. Predictors of Abnormal Neuroimaging of the Brain in Children With Epilepsy Aged 1 Month to 2 Years: Useful Clues in a Resource-Limited Setting.

    Sanmaneechai, Oranee; Danchaivijitr, Nasuda; Likasitwattanakul, Surachai

    2015-10-01

    Neuroimaging should be performed on infants with seizure. However, there are economic limitations in performing neuroimaging in a resource-limited setting. The younger the age, the higher the risk of having abnormal neuroimaging. The aim was to determine frequency and predictors of abnormal neuroimaging in children with epilepsy aged 1 month to 2 years. History, physical examination, electroencephalogram (EEG), and neuroimaging were reviewed. Thirty-seven of 49 (76%) had neuroimaging studies; 19 computed tomography (CT), 14 magnetic resonance imaging (MRI), and 4 had both. Abnormal neuroimaging was found in 19 (51%). Predictors of abnormal neuroimages are developmental delay, abnormal head circumference, and abnormal neurologic examination. Eight children (21%) had lesions on neuroimaging studies that altered or influenced management. Of 8 patients with normal examination and EEG, 1 had a brain tumor and another had arteriovenous malformation. Neuroimaging should be considered as an essential aid in the evaluation of infants with epilepsy, even in a resource-limited setting. PMID:25792429

  15. Complex radiation diagnosis of associated intracardiac abnormality

    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

  16. An Abnormal Psychology Community Based Interview Assignment

    White, Geoffry D.

    1977-01-01

    A course option in abnormal psychology involves students in interviewing and observing the activities of individuals in the off-campus community who are concerned with some aspect of abnormal psychology. The technique generates student interest in the field when they interview people about topics such as drug abuse, transsexualism, and abuse of…

  17. An Abnormal Vibrational Mode of Torsion Pendulum

    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.

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

    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

  19. [Abnormality in bone metabolism after burn].

    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

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

    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

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

    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

  2. Chromosomal abnormalities in patients with sperm disorders

    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

  3. Developmental diseases and the hypothetical Master Development Program.

    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

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

    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.

  5. Developmental origins of brain disorders: roles for dopamine

    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.

  6. Attentional networks in developmental dyscalculia

    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.

  7. Developmental psychopathology: concepts and challenges.

    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

  8. Numerically abnormal chromosome constitutions in humans

    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.

  9. Sleep physiology, abnormal States, and therapeutic interventions.

    Wickboldt, Alvah T; Bowen, Alex F; Kaye, Aaron J; Kaye, Adam M; Rivera Bueno, Franklin; Kaye, Alan D

    2012-01-01

    Sleep is essential. Unfortunately, a significant portion of the population experiences altered sleep states that often result in a multitude of health-related issues. The regulation of sleep and sleep-wake cycles is an area of intense research, and many options for treatment are available. The following review summarizes the current understanding of normal and abnormal sleep-related conditions and the available treatment options. All clinicians managing patients must recommend appropriate therapeutic interventions for abnormal sleep states. Clinicians' solid understanding of sleep physiology, abnormal sleep states, and treatments will greatly benefit patients regardless of their disease process. PMID:22778676

  10. Developmental dyslexia and vision

    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

  11. Developmental Milestones of Early Literacy

    ... 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 ...

  12. Developmental Disabilities Preschool Language Program

    Schaub, Mary T.; Ritenour, J. V.

    1977-01-01

    Suggested are procedures for providing a developmental program for preschool children with communication disorders complicated by other disorders such as mental retardation, epilepsy, cerebral palsy, and other neurological dysfunctions. (IM)

  13. Low-set ears and pinna abnormalities

    ... 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 ...

  14. Abnormal Events for Emergency Trip in HANARO

    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

  15. The glycometabolism abnormality among schizophrenia patients

    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

  16. Amphibian abnormalities on National Wildlife Refuges

    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 nations National Wildlife Refuges and 2 determine how the...

  17. Report to Congress on abnormal occurrences

    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, 1990. The report discusses six abnormal occurrences, none involving a nuclear power plant. There were five abnormal occurrences at NRC licensees: (1) deficiencies in brachytherapy program; (2) a radiation overexposure of a radiographer; (3) a medical diagnostic misadministration; (4) administration of iodine-131 to a lactating female with subsequent uptake by her infant; and (5) a medical therapy misadministration. An Agreement State (Arizona) reported an abnormal occurrence involving a medical diagnostic misadministration. The report also contains information that updates a previously reported occurrence

  18. Pinna abnormalities and low-set ears

    ... 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 ...

  19. Clinical and Morphological Aspects of Gray Matter Heterotopia Type Developmental Malformations

    Gray matter heterotopia (GMH) is a malformation of the central nervous system characterized by interruption of normal neuroblasts migration between the 7th and 16th week of fetal development. The aim of the study was the analysis of clinical symptoms, prevalence rate and the most common concurrent central nervous system (CNS) developmental disorders as well as assessment of characteristic morphological changes of gray matter heterotopia in children hospitalized in our institution between the year 2001 and 2012. We performed a retrospective analysis of patients’ data who were hospitalized in our institution between the year 2001 and 2012. We assessed clinical data and imaging exams in children diagnosed with gray matter heterotopia confirmed in MRI (magnetic resonance imaging). GMH occurred in 26 children hospitalized in our institution between the year 2001 and 2012. Among children with gray matter heterotopia most common clinical symptoms were: epilepsy, intellectual disability and hemiparesis. The commonest location of heterotopic gray matter were fronto-parietal areas of brain parenchyma, mostly subependymal region. Gray matter heterotopia occurred with other developmental disorders of the central nervous system rather than solely and in most cases it was bilateral. Schizencephaly and abnormalities of the corpus callosum were the most often developmental disorders accompanying GMH. 1. Subependymal gray matter heterotopia was more common than subcortical GMH. Subependymal GMH showed tendency to localize in the region of the bodies of the lateral ventricles. The least common was laminar GMH. 2. Gray matter heterotopia occurred more often with other developmental disorders of the central nervous system rather than solely. The most frequent concurrent disorders of the central nervous system were: schizencephaly, developmental abnormalities of the corpus callosum, arachnoid cyst, abnormalities of the septum pellucidum and the fornix. 3. GMH foci were more often

  20. Attentional networks in developmental dyscalculia

    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...

  1. CAESAR models for developmental toxicity

    Piclin Nadège; Pintore Marco; Young Douglas; Martin Todd; Manganaro Alberto; Cassano Antonio; Bigoni Davide; Benfenati Emilio

    2010-01-01

    Abstract Background The new REACH legislation requires assessment of a large number of chemicals in the European market for several endpoints. Developmental toxicity is one of the most difficult endpoints to assess, on account of the complexity, length and costs of experiments. Following the encouragement of QSAR (in silico) methods provided in the REACH itself, the CAESAR project has developed several models. Results Two QSAR models for developmental toxicity have been developed, using diffe...

  2. Developmental stability and human violence.

    Furlow, B; Gangestad, S W; Armijo-Prewitt, T

    1998-01-01

    Developmental stability (the precision with which genotypes are translated into phenotypes under physically stressful developmental conditions), is a major source of phenotypic and behavioural variation, yet researchers have largely ignored its potential role in the ontogeny of individual propensities toward human aggression and violence. In this study, we measured fluctuating asymmetry of the body and administered aggression and fighting history questionnaires to 229 college students (139 fe...

  3. Cytogenetic Studies in Children with Developmental Delay

    Hassan S.A. El-Dawi, *El-Sayed G. Khedr, *Tarek A. Atia, **Hassan Ali

    2008-03-01

    Full Text Available Introduction: Developmental delay (DD could be syndromic or non-syndromic, and collectively it affects 10% of all children. There are numerous causes of DD that could be genetical, hormonal and/or neurological. The frequency of defected chromosomal anomalies in patients with DD is variable and estimates between 9% and 36%. However, the accurate diagnosis needs further tests based on the information gather from parents and the findings on physical examination. Objective: We aim to evaluate the pattern of chromosomal abnormalities in children with non-syndromic DD, in order to detect the treatable cases, and offering an appropriate genetic counseling. Methodology: 50 children suffering from DD with or without mental retardation(MR and/or congenital anomalies were subjected to the present study. Additionally, another 50 normally developed children were considered as control group. Peripheral blood samples were collected, cultured, harvested, metaphase spread and then chromosomes were stained for G-banding using Trypsin-Giemsa technique. Chromosomes were analyzed, metaphase spreads were captured, and karyotyping has been done. Result: Seven cases (14% out of the 50 affected children carried structural chromosomal rearrangements. Six (85.7% out of the seven structural chromosomal abnormalities were detected in autosomal chromosomes and one (14.3% in sex chromosome. Surprisingly, we have found a case (2% carrying pericentric inversion of chromosome 3 within the normal control group. Conclusions: Chromosomal studies are valuable in detecting such cases with DD. Prenatal genetic diagnosis is of clinical importance to prevent and offer genetic counseling. Additionally, small proportion of apparently normal population could carry some types of structural chromosomal anomalies

  4. Echocardiographic abnormalities in type IV mucopolysaccharidosis.

    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 ...

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

    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...

  6. Carbamazepine for acute psychosis with eeg abnormalities

    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...

  7. Remote disassembly of an abnormal multiplication system

    The method of abnormal multiplying systems remote disassembling is described. This method was worked through in actual operations as response to the nuclear accident at the RFNC-VNIIEF criticality test facility FKBN-2M on 17 June 1997. The abnormal assembly was a sphere of 235U (90%), surrounded by a copper reflector. The detailed information on the multiplying system disassembly operations could be of use to the experts at other institutions when they develop emergency response plans. (author)

  8. Holoprosencephaly due to Numeric Chromosome Abnormalities

    Solomon, Benjamin D.; Rosenbaum, Kenneth N.; Meck, Jeanne M.; Muenke, Maximilian

    2010-01-01

    Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been ...

  9. Abnormal Head Position in Infantile Nystagmus Syndrome

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

    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 ta...

  10. Breathing abnormalities in sleep in achondroplasia.

    Waters, K A; Everett, F; Sillence, D; Fagan, E.; Sullivan, C E

    1993-01-01

    Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged 20 to 31 years were included. All had upper airway obstruction and 15 (75%) had a pathological apno...

  11. Abnormal uterine bleeding: a clinicohistopathological analysis

    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...

  12. Evidence of portuguese stock market abnormal returns

    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...

  13. Heterotaxy syndromes and abnormal bowel rotation

    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.)

  14. Prevalence of asymptomatic urinary abnormalities among adolescents

    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.

  15. Medical Costs of Abnormal Serum Sodium Levels

    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 ...

  16. 29 CFR 1952.351 - Developmental schedule.

    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.

    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.

    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.

    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. White matter abnormalities in tuberous sclerosis complex

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Academic Dept. of Radiology; Bolton, P. [Cambridge Univ. (United Kingdom). Section of Developmental Psychiatry; Verity, C. [Addenbrooke`s NHS Trust, Cambridge (United Kingdom). Dept. of Paediatric Radiology

    1998-09-01

    The aim of this study was to investigate and describe the range of white matter abnormalities in children with tuberous sclerosis complex by means of MR imaging. Material and Methods: A retrospective cross-sectional study was performed on the basis of MR imaging findings in 20 cases of tuberous sclerosis complex in children aged 17 years or younger. Results: White matter abnormalities were present in 19/20 (95%) cases of tuberous sclerosis complex. These were most frequently (19/20 cases) found in relation to cortical tubers in the supratentorial compartment. White matter abnormalities related to tubers were found in the cerebellum in 3/20 (15%) cases. White matter abnormalities described as radial migration lines were found in relation to 5 tubers in 3 (15%) children. In 4/20 (20%) cases, white matter abnormalities were found that were not related to cortical tubers. These areas had the appearance of white matter cysts in 3 cases and infarction in the fourth. In the latter case there was a definable event in the clinical history, supporting the diagnosis of stroke. Conclusion: A range of white matter abnormalities were found by MR imaging in tuberous sclerosis complex, the commonest being gliosis and hypomyelination related to cortical tubers. Radial migration lines were seen infrequently in relation to cortical tubers and these are thought to represent heterotopic glia and neurons along the expected path of cortical migration. (orig.)

  1. White matter abnormalities in tuberous sclerosis complex

    The aim of this study was to investigate and describe the range of white matter abnormalities in children with tuberous sclerosis complex by means of MR imaging. Material and Methods: A retrospective cross-sectional study was performed on the basis of MR imaging findings in 20 cases of tuberous sclerosis complex in children aged 17 years or younger. Results: White matter abnormalities were present in 19/20 (95%) cases of tuberous sclerosis complex. These were most frequently (19/20 cases) found in relation to cortical tubers in the supratentorial compartment. White matter abnormalities related to tubers were found in the cerebellum in 3/20 (15%) cases. White matter abnormalities described as radial migration lines were found in relation to 5 tubers in 3 (15%) children. In 4/20 (20%) cases, white matter abnormalities were found that were not related to cortical tubers. These areas had the appearance of white matter cysts in 3 cases and infarction in the fourth. In the latter case there was a definable event in the clinical history, supporting the diagnosis of stroke. Conclusion: A range of white matter abnormalities were found by MR imaging in tuberous sclerosis complex, the commonest being gliosis and hypomyelination related to cortical tubers. Radial migration lines were seen infrequently in relation to cortical tubers and these are thought to represent heterotopic glia and neurons along the expected path of cortical migration. (orig.)

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

    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. External genital abnormalities in male schoolchildren: an epidemiological study

    Živković Dragana 1

    2004-01-01

    Full Text Available Introduction External genital abnormalities represent the most common congenital anomalies. Proper, not delayed diagnosis and treatment of certain abnomalities (undescended testis, hypospadia, varicocele is of great importance for future fertility potential of children. Material and methods An epidemiological study, that consisted of an urological check-up, was performed among school-aged boys in two elementary schools. Prevalence of external genital, and inguinal region was examined. Results A total of 1229 elementary school boys were examined. The incidence of external genital abnomalities was 27.8%. Certain anomalies were already surgically treated in 7.8% of boys. Phimosis was found in 66 patients (5,5%, which represents 26.6% of all abnomalities. Discussion In this study the incidence of undescended testis was 2.0%. Although it is similar to literature data, the fact that undescended testis was found in 25 boys older than 7 years (two of them 15 years old! suggests that the primary health care is not satisfactory. The incidence of inguinal hernia and hydrocele varies according to different authors from 0.8-4.4% to 13.44%. In this study the incidence was 2.4%. Varicocele represents a developmental anomaly and the incidence is increasing with age. It is rare in boys up to 10 years of age, but the incidence of varicocele in boys aged 15 years (15.8% reaches the level of incidence in adults (19.82%. The incidence of phimosis in this study was 5.5%. Conclusion High incidence of external genital abnormalities in school aged boys suggests a need for further education of physicians in primary health care services as well as of parents.

  4. 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)

    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.

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

    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.) ...

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

    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...

  7. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  8. Preserved local but disrupted contextual figure-ground influences in an individual with abnormal function of intermediate visual areas

    Brooks, Joseph L.; Gilaie-Dotan, Sharon; Rees, Geraint; Bentin, Shlomo; Driver, Jon

    2012-01-01

    Visual perception depends not only on local stimulus features but also on their relationship to the surrounding stimulus context, as evident in both local and contextual influences on figure-ground segmentation. Intermediate visual areas may play a role in such contextual influences, as we tested here by examining LG, a rare case of developmental visual agnosia. LG has no evident abnormality of brain structure and functional neuroimaging showed relatively normal V1 function, but his intermedi...

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

    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. Cranial ultrasound abnormalities in full term infants in a postnatal ward: outcome at 12 and 18 months

    Haataja, L; Mercuri, E.; Cowan, F; Dubowitz, L

    2000-01-01

    OBJECTIVE—To investigate whether cranial ultrasound abnormalities found in low risk full term infants had any influence on neurodevelopmental outcome.
METHODS—For 103 infants who had a neurological assessment, a cranial ultrasound examination, and for whom antenatal and perinatal data were collected within 48 hours of delivery, neurodevelopmental status was evaluated at 12 and 18 months. The results of a scored neurological examination and the Griffiths mental developmental ...

  11. Structural Abnormalities in Early Tourette Syndrome Children: A Combined Voxel-Based Morphometry and Tract-Based Spatial Statistics Study

    Liu, Yue; Miao, Wen; Wang, Jieqiong; Gao, Peiyi; Yin, Guangheng; Zhang, Liping; Lv, Chuankai; Ji, Zhiying; Yu, Tong; Sabel, B. A.; He, Huiguang; Peng, Yun

    2013-01-01

    Tourette Syndrome (TS) is characterized with chronic motor and vocal tics beginning in childhood. Abnormality of both gray (GM) and white matter (WM) has been observed in cortico-striato-thalamo-cortical circuits and sensory-motor cortex of adult TS patient. It is not clear if these morphological changes are also present in TS children and if there are any microstructural changes of WM. To understand the developmental cause of such changes, we investigated volumetric changes of GM and WM usin...

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

    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...

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

    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.)

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

    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.)

  15. Altered functional connectivity in persistent developmental stuttering.

    Yang, Yang; Jia, Fanlu; Siok, Wai Ting; Tan, Li Hai

    2016-01-01

    Persistent developmental stuttering (PDS) is a speech disorder that impairs communication skills. Despite extensive research, the core causes of PDS are elusive. Converging evidence from task-induced neuroimaging methods has demonstrated the contributions of the basal ganglia and the cerebellum to PDS, but such task-state neuroimaging findings are often confounded by behavioral performance differences between subjects who stutter and normal controls. Here, using resting-state functional magnetic resonance imaging, we investigated functional connectivity within cerebellar-cortical and basal ganglia-thalamocortical networks in 16 adults who stutter and 18 age-matched fluent speakers. Seed-to-voxel analysis demonstrated that, compared to controls, adults who stutter showed alternations in functional connectivity of cerebellum to motor cortex as well as connectivity among different locals within cerebellum. Additionally, we found that functional connectivity within cerebellar circuits was significantly correlated with severity of stuttering. The alternations of functional connectivity within basal ganglia-thalamocortical networks were identified as the reduced connectivity of the putamen to the superior temporal gyrus and inferior parietal lobules in adults who stutter. The abnormalities of resting state functional connectivity are assumed to affect language planning and motor execution critical for speaking fluently. Our findings may yield neurobiological cues to the biomarkers of PDS. PMID:26743821

  16. Developmental malformations of the cerebral cortex

    Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

  17. Cranioplasty for isolated trigonocephaly with developmental disorder

    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)

  18. Cranioplasty for isolated trigonocephaly with developmental disorder

    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)

  19. Dopaminergic system abnormalities Etiopathogenesis of dystonia

    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

  20. OPHTHALMOLOGIC ABNORMALITIES IN CHILDREN WITH IMPAIRED HEARING

    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.

  1. Carbamazepine for acute psychosis with eeg abnormalities

    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.

  2. Dysmorphometrics: the modelling of morphological abnormalities

    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.

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

    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. Abnormal Repetitive Behaviours: Shared Phenomenology and Pathophysiology

    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…

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

    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. Report on Congress on abnormal occurrences

    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 January 1 through March 31, 1991. The report discusses six abnormal occurrences, none of which involved a nuclear power plant. Five of the events occurred at NRC-licensed facilities: one involved a significant degradation of plant safety at a nuclear fuel cycle facility, one involved a medical diagnostic misadministration, and three involved medical therapy misadministrations. An Agreement State (Arizona) reported one abnormal occurrence that involved medical therapy misadministrations

  7. Cone photopigment bleaching abnormalities in diabetes.

    Elsner, A E; Burns, S A; Lobes, L A; Doft, B H

    1987-04-01

    We have used a color-matching technique to obtain estimates of the optical density of cone photopigments as a function of retinal illuminance in patients with insulin-dependent diabetes mellitus (IDDM). We found that the half-bleach illuminance of some patients is abnormally high. That is, it takes more light to bleach an equivalent amount of photopigment in these patients. Since low illuminance color matches for these patients are normal, this implies that these patients have normal amounts of photopigment, but the photopigment is not bleaching normally. This result clearly points to abnormalities in the outer retina of these diabetic patients. The most likely causes of this abnormality are either decreases in the ability of the cones to absorb light, or an increased rate of regeneration of the cone photopigments. PMID:3557875

  8. Advances in understanding paternally transmitted Chromosomal Abnormalities

    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.

  9. Hemorheological abnormalities in human arterial hypertension

    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. Nonpathologizing trauma interventions in abnormal psychology courses.

    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. PMID:26460794

  11. Update of Thyroid Developmental Genes.

    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. Thicker Temporal Cortex Associates with a Developmental Trajectory for Psychopathic Traits in Adolescents

    Yang, Yaling; Wang, Pan; Baker, Laura A.; Narr, Katherine L.; Joshi, Shantanu H.; Hafzalla, George; Raine, Adrian; Thompson, Paul M.

    2015-01-01

    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 substan...

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

    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. The society for craniofacial genetics and developmental biology 38th annual meeting.

    Taneyhill, Lisa A; Hoover-Fong, Julie; Lozanoff, Scott; Marcucio, Ralph; Richtsmeier, Joan T; Trainor, Paul A

    2016-07-01

    The mission of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) is to promote education, research, and communication about normal and abnormal development of the tissues and organs of the head. The SCGDB welcomes as members undergraduate students, graduate students, post doctoral researchers, clinicians, orthodontists, scientists, and academicians who share an interest in craniofacial biology. Each year our members come together to share their novel findings, build upon, and challenge current knowledge of craniofacial biology. © 2016 Wiley Periodicals, Inc. PMID:27102868

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

    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...

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

    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.

  17. Vitamin D and Risk of Neuroimaging Abnormalities.

    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

  18. Behavioral abnormalities in captive nonhuman primates.

    Mallapur, Avanti; Choudhury, B C

    2003-01-01

    In this study, we dealt with 11 species of nonhuman primates across 10 zoos in India. We recorded behavior as instantaneous scans between 9 a.m. and 5 p.m. In the study, we segregated behaviors for analyses into abnormal, undesirable, active, and resting. The 4 types of abnormal behavior exhibited included floating limb, self-biting, self-clasping, and stereotypic pacing. In the study, we recorded 2 types of undesirable behavior: autoerotic stimulation and begging. Langurs and group-housed macaques did not exhibit undesirable behaviors. A male lion-tailed macaque and a male gibbon exhibited begging behavior. autoerotic stimulation and self-biting occurred rarely. Males exhibited higher levels of undesirable behavior than did females. Animals confiscated from touring zoos, circuses, and animal traders exhibited higher levels of abnormal behaviors than did animals reared in larger, recognized zoos. The stump-tailed macaque was the only species to exhibit floating limb, autoerotic stimulation, self-biting, and self-clasping. Our results show that rearing experience and group composition influence the proportions of abnormal behavior exhibited by nonhuman primates in captivity. The history of early social and environmental deprivation in these species of captive nonhuman primates probably is critical in the development of behavioral pathologies. Establishing this will require further research. PMID:14965782

  19. Craniofacial abnormalities among patients with Edwards Syndrome

    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.

  20. Sensory Abnormalities in Autism: A Brief Report

    Klintwall Lars; Holm, Anette; Eriksson, Mats; Carlsson, Lotta Hoglund; Olsson, Martina Barnevik; Hedvall, Asa; Gillberg, Christopher; Fernell, Elisabeth

    2011-01-01

    Sensory abnormalities were assessed in a population-based group of 208 20-54-month-old children, diagnosed with autism spectrum disorder (ASD) and referred to a specialized habilitation centre for early intervention. The children were subgrouped based upon degree of autistic symptoms and cognitive level by a research team at the centre. Parents…

  1. Psychology Faculty Perceptions of Abnormal Psychology Textbooks

    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…

  2. Dynamic Abnormal Grain Growth in Refractory Metals

    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.

  3. Gastric emptying abnormal in duodenal ulcer

    To investigate the possibility that an abnormality of gastric emptying exists in duodenal ulcer and to determine if such an abnormality persists after ulcer healing, scintigraphic gastric emptying measurements were undertaken in 16 duodenal ulcer patients before, during, and after therapy with cimetidine; in 12 patients with pernicious anemia, and in 12 control subjects. No difference was detected in the rate or pattern of gastric emptying in duodenal ulcer patients before and after ulcer healing with cimetidine compared with controls, but emptying of the solid component of the test meal was more rapid during treatment with the drug. Comparison of emptying patterns obtained in duodenal ulcer subjects during and after cimetidine treatment with those obtained in pernicious anemia patients and controls revealed a similar relationship that was characterized by a tendency for reduction in the normal differentiation between the emptying of solid and liquid from the stomach. The similarity in emptying patterns in these groups of subjects suggests that gastric emptying of solids may be influenced by changes in the volume of gastric secretion. The failure to detect an abnormality of gastric emptying in duodenal ulcer subjects before and after ulcer healing calls into question the widespread belief that abnormally rapid gastric emptying is a feature with pathogenetic significance in duodenal ulcer disease

  4. Reversible splenial abnormality in hypoglycemic encephalopathy

    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.)

  5. Reversible splenial abnormality in hypoglycemic encephalopathy

    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.)

  6. Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5

    Cortes, Dina; Thorup, J M; Beck, Bjarne Lomholdt;

    1998-01-01

    individuals with tritonmelia, the male variant of sirenomelia. Sirenomelia/tritonmelia is an extreme degree of abnormal differentiation of the caudal developmental field, also called caudal dysplasia, the caudal regression syndrome and the caudal regression malformation sequence. Caudal developmental field...... defects were also the predominant abnormalities in the other groups of patients. Thus, cryptorchidism may be a feature of abnormal differentiation of the caudal developmental field. Position and histology of the undescended testes of the patients included in the association were similar...... to in cryptorchidism in general. In the literature the association was reported in 5-10% of boys considered to suffer from cryptorchidism only. Furthermore, our observations are concordant with recent theories about cryptorchidism. Consequently, we propose that cryptorchidism in general may be a caudal developmental...

  7. Overview: developmental toxicology: new directions.

    Shuey, Dana; Kim, James H

    2011-10-01

    Since regulatory agencies began implementing the use of standardized developmental toxicology protocols in the mid-1960s, our knowledge base of embryo-fetal development and technologies for experimentation has grown exponentially. These developmental toxicology protocols were a direct result of the thalidomide tragedy from earlier that decade, when large numbers of women were exposed to the drug and over 10,000 cases of phocomelia resulted. In preventing a recurrence of such tragedies, the testing protocols are immensely successful and the field of toxicology has been dedicated to using them to advance safety and risk assessment of chemicals and pharmaceuticals. Recently, our perspectives on toxicity testing have been challenged by a growing awareness that while we have excelled in hazard identification, we are in dire need of improved methodologies for human health risk assessment, particularly with respect to the large numbers of environmental chemicals for which we have little toxicology data and to the growing sentiment that better alternatives to whole animals tests are needed. To provide a forum for scientists, researchers, and regulators, the Developmental and Reproductive Toxicology Technical Committee of the Health and Environmental Sciences Institute organized a 2-day workshop titled "Developmental Toxicology-New Directions" to evaluate lessons learned over the past 30 years and discuss the future of toxicology testing. The following four articles describe different presentations and discussions that were held over the course of those 2 days. PMID:21770024

  8. Developmental Dyscalculia and Medical Assessment.

    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…

  9. Neuropsychological Aspects of Developmental Dyscalculia.

    Shalev, R. S.; Manor, O.; Gross-Tsur, V.

    1997-01-01

    Classification of arithmetic disorders is predicated on neuropsychological features and associated learning disabilities. Assesses the compatibility of these classifications on a nonreferred, population-based cohort of children (N=139) with developmental dyscalculia. Concludes that children with dyscalculia and disabilities in reading and/or…

  10. Developmental dyscalculia: a dysconnection syndrome?

    Kucian, Karin; Ashkenazi, Simone Schwizer; Hänggi, Jürgen; Rotzer, Stephanie; Jäncke, Lutz; Martin, Ernst; von Aster, Michael

    2014-09-01

    Numerical understanding is important for everyday life. For children with developmental dyscalculia (DD), numbers and magnitudes present profound problems which are thought to be based upon neuronal impairments of key regions for numerical understanding. The aim of the present study was to investigate possible differences in white matter fibre integrity between children with DD and controls using diffusion tensor imaging. White matter integrity and behavioural measures were evaluated in 15 children with developmental dyscalculia aged around 10 years and 15 matched controls. The main finding, obtained by a whole brain group comparison, revealed reduced fractional anisotropy in the superior longitudinal fasciculus in children with developmental dyscalculia. In addition, a region of interest analysis exhibited prominent deficits in fibres of the superior longitudinal fasciculus adjacent to the intraparietal sulcus, which is thought to be the core region for number processing. To conclude, our results outline deficient fibre projection between parietal, temporal and frontal regions in children with developmental dyscalculia, and therefore raise the question of whether dyscalculia can be seen as a dysconnection syndrome. Since the superior longitudinal fasciculus is involved in the integration and control of distributed brain processes, the present results highlight the importance of considering broader domain-general mechanisms in the diagnosis and therapy of dyscalculia. PMID:23783231

  11. Causal Inference and Developmental Psychology

    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…

  12. Transforming Developmental Education in Texas

    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…

  13. Vygotsky's Developmental and Educational Psychology

    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…

  14. Developmental cholinotoxicants: nicotine and chlorpyrifos.

    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...

  15. Ecdysone Control of Developmental Transitions

    Rewitz, Kim; Yamanaka, Naoki; O'Connor, Michael B.

    2013-01-01

    The steroid hormone ecdysone is the central regulator of insect developmental transitions. Recent new advances in our understanding of ecdysone action have relied heavily on the application of Drosophila melanogaster molecular genetic tools to study insect metamorphosis. In this review, we focus on...

  16. Developmental Learning for Object Perception

    Lyubova, Natalya; Filliat, David

    2012-01-01

    The goal of this work is to design a visual system for a humanoid robot. Taking inspiration from child's perception and following the principles of developmental robotics, the robot should detect and learn objects from interactions with people and own experiments.

  17. The diversification of developmental biology.

    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

  18. Developmental trends in adaptive memory.

    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

  19. De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia: a case report.

    Tos, T; Alp, M Y; Karacan, C D; Andiran, N; Colakoglu, E Y

    2014-01-01

    In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial deletion of 9q associated with q32-q34 is found extremely rare. Common features of seven previously reported cases are mental retardation, developmental delay, short stature, a distinct cranial and facial phenotype (brachycephaly, low midface, low and prominent forehead, and low set malformed ears). Combination of epilepsy, abnormal EEG and brain MRI findings are not reported before. PMID:25059019

  20. 29 CFR 1952.231 - Developmental schedule.

    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...

  1. 29 CFR 1952.123 - Developmental schedule.

    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...

  2. 29 CFR 1952.221 - Developmental schedule.

    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...

  3. Developmental Modes and Developmental Mechanisms can Channel Brain Evolution

    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...

  4. Embalse NGS: Abnormal event procedures development lifecycle

    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

  5. Migraine and structural abnormalities in the brain

    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...

  6. Gastric emptying abnormalities in progressive systemic sclerosis

    The authors studied gastric emptying (GE) in patients with peripheral manifestations of progressive systemic sclerosis (PSS) using a radionuclide method. 18 patients underwent esophageal manometry and a GE study using chicken liver labeled in vivo with Tc-99m sulfur colloid as a marker of solid emptying. GE was also measured in 13 normal volunteers. 4 PSS patients with normal esophageal motility also had normal GE. The GE of 14 PSS patients with abnormal esophageal motility was significantly (p < 0.05) delayed; with 67.4% retention of isotope after 2 hours compared to 49.8 in normals. The authors conclude that GE of solids is slow in approximately 2/3 of PSS patients with abnormal esophageal motility but is normal if the esophagus is uninvolved; Delayed GE may contribute to the severity of gastroesophageal reflux in PSS patients and the degree of dysphasgia; and Metoclopramide accelerates GE in PSS patients and should have a valuable therapeutic role

  7. Predicting gas in place in abnormal reservoirs

    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. Trace element abnormalities in chronic uremia.

    Smythe, W R; Alfrey, A C; Craswell, P W; Crouch, C A; Ibels, L S; Kubo, H; Nunnelley, L L; Rudolph, H

    1982-03-01

    We studied the elemental composition of autopsy tissue samples to characterize the trace element changes induced in various human tissues by uremia. Samples from the United States and Australia, including those from 120 uremic patients who had been on dialysis, 29 uremic patients who had not been on dialysis, and 64 control subjects, were analyzed by x-ray fluorescence. Tissues analyzed were aorta, bone, brain, heart, kidney, liver, lung, muscle, and spleen; elements measured included potassium, calcium, iron, copper, zinc, selenium, bromine, rubidium, strontium, molybdenum, cadmium, tin, and uranium. Uremic abnormalities that were statistically very significant were found, including increases of calcium, strontium, molybdenum, cadmium, and tin and decreases of potassium and rubidium. The distribution of iron, copper, and zinc are altered. We conclude that these abnormalities are primarily the result of the uremia and that, generally, they are neither greatly moderated nor exacerbated by the dialysis procedure. PMID:7059092

  9. Abnormal cervical cytology and health care use

    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...

  10. Spinal cord injury without radiographic abnormality

    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.

  11. Developmental amnesia: Effect of age at injury

    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

  12. OPHTHALMOLOGIC ABNORMALITIES IN CHILDREN WITH IMPAIRED HEARING

    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. Computed tomography in abnormalities of the hip

    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.)

  14. Computed tomography in abnormalities of the hip

    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.

  15. Electrophysiological abnormalities in the transplanted human heart.

    Bexton, R. S.; Nathan, A W; Hellestrand, K J; Cory-Pearce, R; Spurrell, R A; English, T A; Camm, A. J.

    1983-01-01

    Fourteen relatively long term survivors of cardiac transplantation underwent systematic electrophysiological evaluation and ambulatory electrocardiographic monitoring. Six patients had prolonged conduction intervals during sinus rhythm. Sinus node function could be assessed in all donor atria and in 10 recipient atria. Sinus node recovery times were prolonged in four of the donor atria and in six recipient atria. In the donor atria abnormalities of sinus node automaticity were invariably asso...

  16. ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

    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...

  17. Chromagen lenses and abnormal colour perception

    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...

  18. Dysglycemia induces abnormal circadian blood pressure variability

    Kumarasamy Sivarajan

    2011-11-01

    Full Text Available Abstract Background Prediabetes (PreDM in asymptomatic adults is associated with abnormal circadian blood pressure variability (abnormal CBPV. Hypothesis Systemic inflammation and glycemia influence circadian blood pressure variability. Methods Dahl salt-sensitive (S rats (n = 19 after weaning were fed either an American (AD or a standard (SD diet. The AD (high-glycemic-index, high-fat simulated customary human diet, provided daily overabundant calories which over time lead to body weight gain. The SD (low-glycemic-index, low-fat mirrored desirable balanced human diet for maintaining body weight. Body weight and serum concentrations for fasting glucose (FG, adipokines (leptin and adiponectin, and proinflammatory cytokines [monocyte chemoattractant protein-1 (MCP-1 and tumor necrosis factor-α (TNF-α] were measured. Rats were surgically implanted with C40 transmitters and blood pressure (BP-both systolic; SBP and diastolic; DBP and heart rate (HR were recorded by telemetry every 5 minutes during both sleep (day and active (night periods. Pulse pressure (PP was calculated (PP = SBP-DBP. Results [mean(SEM]: The AD fed group displayed significant increase in body weight (after 90 days; p Conclusion These data validate our stated hypothesis that systemic inflammation and glycemia influence circadian blood pressure variability. This study, for the first time, demonstrates a cause and effect relationship between caloric excess, enhanced systemic inflammation, dysglycemia, loss of blood pressure control and abnormal CBPV. Our results provide the fundamental basis for examining the relationship between dysglycemia and perturbation of the underlying mechanisms (adipose tissue dysfunction induced local and systemic inflammation, insulin resistance and alteration of adipose tissue precursors for the renin-aldosterone-angiotensin system which generate abnormal CBPV.

  19. Chronic daily headache: biochemical and neurotransmitter abnormalities

    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...

  20. Congenital anorectal abnormalities in six dogs.

    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

  1. Neurostructural Abnormalities in Pediatric Anxiety Disorders

    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...

  2. Sleep Physiology, Abnormal States, and Therapeutic Interventions

    Wickboldt, Alvah T.; Bowen, Alex F.; Kaye, Aaron J.; Kaye, Adam M.; Rivera Bueno, Franklin; Kaye, Alan D.

    2012-01-01

    Sleep is essential. Unfortunately, a significant portion of the population experiences altered sleep states that often result in a multitude of health-related issues. The regulation of sleep and sleep-wake cycles is an area of intense research, and many options for treatment are available. The following review summarizes the current understanding of normal and abnormal sleep-related conditions and the available treatment options. All clinicians managing patients must recommend appropriate the...

  3. Metabolic abnormalities in Williams-Beuren syndrome

    Palacios Verd??, Mar??a Gabriela, 1983-; Segura Puimedon, Maria, 1985-; Borralleras, Cristina; Flores, Raquel; Campo Casanelles, Miguel del, 1966-; Campuzano Uceda, Mar??a Victoria; P??rez Jurado, Luis Alberto

    2015-01-01

    BACKGROUND: Williams-Beuren syndrome (WBS, OMIM-194050) is a neurodevelopmental disorder with multisystemic manifestations caused by a 1.55-1.83???Mb deletion at 7q11.23 including 26-28 genes. Reported endocrine and metabolic abnormalities include transient hypercalcaemia of infancy, subclinical hypothyroidism in ???30% of children and impaired glucose tolerance in ???75% of adult individuals. The purpose of this study was to further study metabolic alterations in patients with WBS, as well a...

  4. Abnormal Activity Detection Using Pyroelectric Infrared Sensors

    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.

  5. Abnormal Activity Detection Using Pyroelectric Infrared Sensors.

    Luo, Xiaomu; Tan, Huoyuan; Guan, Qiuju; Liu, Tong; Zhuo, Hankz Hankui; Shen, Baihua

    2016-01-01

    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. PMID:27271632

  6. Autism and chromosome abnormalities-A review.

    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

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

    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

  8. Developmental Dynamics of Rett Syndrome.

    Feldman, Danielle; Banerjee, Abhishek; Sur, Mriganka

    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 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. PMID:26942018

  9. Developmental Dynamics of Rett Syndrome

    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.

  10. Developmental regulators in Aspergillus fumigatus.

    Park, Hee-Soo; Yu, Jae-Hyuk

    2016-03-01

    The filamentous fungus Aspergillus fumigatus is the most prevalent airborne fungal pathogen causing severe and usually fatal invasive aspergillosis in immunocompromised patients. This fungus produces a large number of small hydrophobic asexual spores called conidia as the primary means of reproduction, cell survival, propagation, and infectivity. The initiation, progression, and completion of asexual development (conidiation) is controlled by various regulators that govern expression of thousands of genes associated with formation of the asexual developmental structure conidiophore, and biogenesis of conidia. In this review, we summarize key regulators that directly or indirectly govern conidiation in this important pathogenic fungus. Better understanding these developmental regulators may provide insights into the improvement in controlling both beneficial and detrimental aspects of various Aspergillus species. PMID:26920882

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

    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.

  12. Psychotherapy with people with developmental disabilities

    Barbara Zafošnik

    2011-08-01

    Full Text Available People with developmental disabilities can experience any psychological abnormalitiy and psychiatric illness as do people without developmental disabilities. Due to different diagnostic criteria, assessment procedures and instruments, we lack definite prevalence rates for people with developmental disabilities, also suffering from mental health problems, eventhough most studies place the rate at 20 to 40%. One of the possible treatment alternatives for augmenting psychological well-being is psychotherapy, but is extremely rarely used for people with severe and profound disabilities, where speech cannot be the main therapeutic medium. So, those that are included in the psychotherapuetic process are predominantly clients with mild developmental disabilities, and they are mostly in cognitive-behavioral therapy. Recently, two models of (psychotherapy for persons with severe and profound developmental disabilities were developed: developmental-dynamic relationship therapy and attachment-based behaviour therapy for children. Conceptually, they both originate form developmental psychoanalytic theories.

  13. Language acquisition in developmental disorders

    Thomas, Michael S. C.

    2010-01-01

    In this chapter, I review recent research into language acquisition in developmental disorders, and the light that these findings shed on the nature of language acquisition in typically developing children. Disorders considered include Specific Language Impairment, autism, Down syndrome, and Williams syndrome. I argue that disorders of language should be construed in terms of differences in the constraints that shape the learning process, rather than in terms of the normal system with compone...

  14. Developmental Dynamics of Rett Syndrome

    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...

  15. Developmental genetics in primitive chordates.

    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...

  16. Psychology is a Developmental Science

    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...

  17. Phonemic restoration in developmental dyslexia

    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...

  18. Phonemic restoration in developmental dyslexia

    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...

  19. Developmental constraints on behavioural flexibility

    Holekamp, Kay E.; Swanson, Eli M.; Van Meter, Page E.

    2013-01-01

    We suggest that variation in mammalian behavioural flexibility not accounted for by current socioecological models may be explained in part by developmental constraints. From our own work, we provide examples of constraints affecting variation in behavioural flexibility, not only among individuals, but also among species and higher taxonomic units. We first implicate organizational maternal effects of androgens in shaping individual differences in aggressive behaviour emitted by female spotte...

  20. DEVELOPMENTAL COORDINATION DISORDER IN CHILDREN

    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...

  1. Developmental trends in adaptive memory

    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...

  2. Perceived functional impact of abnormal facial appearance.

    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

  3. Developmental dyscalculia: prevalence and prognosis.

    Shalev, R S; Auerbach, J; Manor, O; Gross-Tsur, V

    2000-01-01

    The prevalence of developmental dyscalculia (DC) in the school population ranges from 3-6 %, a frequency similar to that of developmental dyslexia and ADHD. These studies fulfilled the criteria for an adequate prevalence study, i.e., were population based, using standardized measures to evaluate arithmetic function. Although the variation in prevalence is within a narrow range, the differences are probably due to which definition of dyscalculia was used, the age the diagnosis was made and the instrument chosen to test for DC. The relative predominance of girls with DC may reflect a greater vulnerability to environmental influences alone or in addition to a biological predisposition. DC is not only encountered as a specific learning disability but also in diverse neurological disorders, examples of which include ADHD, developmental language disorder, epilepsy, treated phenylketonuria and Fragile X syndrome. Although the long-term prognosis of DC is as yet unknown, current data indicate that DC is a stable learning disability persisting, at least for the short term, in about half of affected children. The long-term consequences of DC and its impact on education, employment and psychological well-being have yet to be determined. PMID:11138905

  4. Developmental transcriptome of Aplysia californica'

    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.

  5. Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.

    Kroes, Hester Y; Hochstenbach, Ron; Nievelstein, Rutger A J; Den Hollander, Anneke I; Lugtenberg, Dorien T; Van Nieuwenhuizen, Onno; Lindhout, Dick; Poot, Martin

    2011-07-01

    We describe two patients with severe developmental delay, hypotonia and breathing abnormalities initially diagnosed with the autosomal recessive Joubert syndrome (JBS) who at a later stage appeared to carry chromosomal abnormalities. One case was due to a 4.8 Mb terminal 1q44 deletion, and the other due to a 15.5 Mb duplication of Xq27.2-qter containing the MECP2 gene. Critical evaluation of the clinical data showed that, retrospectively, the cases did not fulfil the diagnostic criteria for JBS, and that the diagnosis of JBS was incorrectly made. We discuss the diagnostic pitfalls and recommend adhering strictly to the JBS diagnostic criteria in the case of a negative molecular diagnosis. Critical assessment of the MRI findings by a specialized neuroradiologist is imperative. As chromosomal abnormalities may give rise to symptoms resembling JBS, we recommend array-based screening for segmental aneuploidies as an initial genetic test in all cases with a JBS-like phenotype. PMID:21527849

  6. Self-correction of chromosomal abnormalities in human preimplantation embryos and embryonic stem cells.

    Bazrgar, Masood; Gourabi, Hamid; Valojerdi, Mojtaba Rezazadeh; Yazdi, Poopak Eftekhari; Baharvand, Hossein

    2013-09-01

    Aneuploidy is commonly seen in human preimplantation embryos, most particularly at the cleavage stage because of genome activation by third cell division. Aneuploid embryos have been used for the derivation of normal embryonic stem cell (ESC) lines and developmental modeling. This review addresses aneuploidies in human preimplantation embryos and human ESCs and the potential of self-correction of these aberrations. Diploid-aneuploid mosaicism is the most frequent abnormality observed; hence, embryos selected by preimplantation genetic diagnosis at the cleavage or blastocyst stage could be partly abnormal. Differentiation is known as the barrier for eliminating mosaic embryos by death and/or decreased division of abnormal cells. However, some mosaicisms, such as copy number variations could be compatible with live birth. Several reasons have been proposed for self-correction of aneuploidies during later stages of development, including primary misdiagnosis, allocation of the aneuploidy in the trophectoderm, cell growth advantage of diploid cells in mosaic embryos, lagging of aneuploid cell division, extrusion or duplication of an aneuploid chromosome, and the abundance of DNA repair gene products. Although more studies are needed to understand the mechanisms of self-correction as a rare phenomenon, most likely, it is related to overcoming mosaicism. PMID:23557100

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

    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.

  8. Developmental outcome of infants with grade III intraventricular hemorrhage

    To determine the developmental outcome of premature infants weighing 1,750 gm or less at birth and who had grade III intraventricular hemorrhage (IVH), we followed up ten infants with IVH confirmed by computed tomography (CT) and ten CT-negative control infants until they were 12 months corrected age. The infants were evaluated at three-month intervals with neurologic examinations; hearing, speech, and language assessments; Bayley testing; and evoked response studies. Normal criteria were defined in each area. Eight of ten grade III IVH survivors had identifiable defects, with a predominance of motor deficits, as assessed by two or more parameters. Only three of the ten patients without IVH had two or more suspicious or abnormal assessments. Infants with grade III IVH may have widespread damage. Use of CT in these infants has permitted early diagnosis, with accurate assessment of the severity of the hemorrhage and prompt neurosurgical treatment

  9. Care of Adults With Intellectual and Developmental Disabilities: Cerebral Palsy.

    Jones, Kyle Bradford; Wilson, Benjamin; Weedon, Dean; Bilder, Deborah

    2015-12-01

    Cerebral palsy (CP) is a group of disorders that primarily affect motor function. This developmental disability is becoming more common in adults as life expectancy increases for individuals with CP. Many physical, medical, mental, and behavioral health conditions are associated with CP, and assistance should be provided to patients with CP to optimize function, when available. These comorbidities include intellectual disabilities, seizures, muscle contractures, abnormal gait, osteoporosis, communication disorders, malnutrition, sleep disorders, and mental health disorders, such as depression and anxiety. The physician should be familiar with screening for and assisting patients with these issues. Optimizing quality of life requires individualized care plans that may include physical therapy, muscle relaxants, surgery, and nutritional support. Other issues to be addressed include methods to facilitate employment; sexual concerns; and support through local and national organizations for patients, families, and caregivers. PMID:26669212

  10. Bakers' cyst and tibiofemoral abnormalities are more distinctive MRI features of symptomatic osteoarthritis than patellofemoral abnormalities

    Visser, A W; Mertens, B; Reijnierse, M; Bloem, J L; de Mutsert, R; le Cessie, S; Rosendaal, F R; Kloppenburg, M

    2016-01-01

    Objective To investigate which structural MR abnormalities discriminate symptomatic knee osteoarthritis (OA), taking co-occurrence of abnormalities in all compartments into account. Methods The Netherlands Epidemiology of Obesity (NEO) study is a population-based cohort aged 45–65 years. In 1285 participants (median age 56 years, 55% women, median body mass index (BMI) 30 kg/m2), MRI of the right knee were obtained. Structural abnormalities (osteophytes, cartilage loss, bone marrow lesions (BMLs), subchondral cysts, meniscal abnormalities, effusion, Baker's cyst) at 9 patellofemoral and tibiofemoral locations were scored following the knee OA scoring system. Symptomatic OA in the imaged knee was defined following the American College of Rheumatology criteria. Logistic ridge regression analyses were used to investigate which structural abnormalities discriminate best between individuals with and without symptomatic OA, crude and adjusted for age, sex and BMI. Results Symptomatic knee OA was present in 177 individuals. Structural MR abnormalities were highly frequent both in individuals with OA and in those without. Baker's cysts showed the highest adjusted regression coefficient (0.293) for presence of symptomatic OA, followed by osteophytes and BMLs in the medial tibiofemoral compartment (0.185–0.279), osteophytes in the medial trochlear facet (0.262) and effusion (0.197). Conclusions Baker's cysts discriminate best between individuals with and without symptomatic knee OA. Structural MR abnormalities, especially in the medial side of the tibiofemoral joint and effusion, add further in discriminating symptomatic OA. Baker's cysts may present as a target for treatment. PMID:27252896

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

    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.

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

    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.

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

    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.

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

    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 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. PMID:27077739

  15. Pericyte coverage of abnormal blood vessels in myelofibrotic bone marrows

    Zetterberg, Eva; Vannucchi, Alessandro M; Migliaccio, Anna Rita;

    2007-01-01

    BACKGROUND AND OBJECTIVES: Myelofibrotic bone marrow displays abnormal angiogenesis but the pathogenic mechanisms of this are poorly understood. Since pericyte abnormalities are described on solid tumor vessels we studied whether vessel morphology and pericyte coverage in bone marrow samples from...

  16. Fetal MR Imaging of Gastrointestinal Abnormalities.

    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

  17. MRI study on urinary abnormalities of fetus

    Objective: To illustrate the important complemental function of MRI in dignosing the urinary abnormalities of the fetus by analyzing MR features. Methods: MRI findings in 34 fetal urinary abnormalities were retrospectively analyzed. Results: Upper urinary tract dilatation was found in 12 cases: one case presented obstructed right renal dysplasia and was on the follow-up, postnatal MR imaging proved the duplex anomaly in one case, one case showed left PUJO on postnatal US imaging and prepared to surgery, 7 cases were normal on postnatal US imaging, 2 cases were lost to follow up. Bilateral urinary anomalies were found in 7 cases: Muhicystic renal dysplasia (n=3), Combined horseshoe kidney in 2 fetuses and bilateral renal aplasia in one case. Bilateral renal dysplasia was diagnosed in 2 cases, one was still bom and proved by autopsy and the other was lost to follow up. The case of bilateral renal agenesis displayed the appearance of sirenomelia on general specimen. The case of right renal agenesis associated contralateral kidney dyspalsia (n=1) was lost to follow up. MR imaging showed low signal intensity of lung and oligohydramnios in the bilateral anomalies. Unilateral urinary anomalies was found in 15 cases, including 9 cases of unilateral renal dysplasia. Two fetuses were aborted and 3 fetuses were proved with postnatal US or MR. One was lost to follow up; 3 cases were on the follow-up. There were 4 cases of unilateral renal agenesis, two fetuses were aborted and 2 fetuses were proved with postnatal US or MR imaging. The case of ectopic kidney was proved with postnatal US imaging. One case of urachal cyst was aborted without autopsy. In the unilateral anomalies, the volume of amniotic fluid was normal, and the fetal lung presented homogenious high signal intensity. Conclusion: As a complemental method, MRI is of great value in displaying and dignosing the urinary abnormalities of fetus. (authors)

  18. Vitamin D and Risk of Neuroimaging Abnormalities.

    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

  19. Cranial computed tomographic abnormalities in leptomeningeal metastasis

    Sixty-four (57.6%) of 111 cancer patients with cerebrospinal fluid cytology positive for malignant cells had cranial computed tomographic (CT) scans within 2 weeks before or after a lumbar puncture. Twenty-two (34.3%) of the 64 had abnormal CT findings indicative of leptomeningeal metastasis. Thirteen (59.6%) of these 22 patients had associated parenchymal metastases. Recognition of leptomeningeal disease may alter the management of patients with parenchymal metastases. Communicating hydrocephalus in cancer patients should be considered to be related to leptomeningeal metastasis until proven otherwise

  20. TRANSIENT ABNORMAL MYELOPOIESIS IN A NEONATE

    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

  1. Vitamin D and Risk of Neuroimaging Abnormalities

    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 (<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(OH)D 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(OH)D 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

  2. Radiological and orthopedic abnormalities in Satoyoshi syndrome

    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.

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

    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

  4. Adult renal cystic disease: a genetic, biological, and developmental primer.

    Katabathina, Venkata S; Kota, Gopi; Dasyam, Anil K; Shanbhogue, Alampady K P; Prasad, Srinivasa R

    2010-10-01

    Renal cystic diseases in adults are a heterogeneous group of disorders characterized by the presence of multiple cysts in the kidneys. These diseases may be categorized as hereditary, acquired, or developmental on the basis of their pathogenesis. Hereditary conditions include autosomal dominant polycystic kidney disease, medullary cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis. Acquired conditions include cystic kidney disease, which develops in patients with end-stage renal disease. Developmental cystic diseases of the adult kidney include localized renal cystic disease, multicystic dysplastic kidney, and medullary sponge kidney. In recent years, many molecular and cellular mechanisms involved in the pathogenesis of renal cystic diseases have been identified. Hereditary renal cystic diseases are characterized by genetic mutations that lead to defects in the structure and function of the primary cilia of renal tubular epithelial cells, abnormal proliferation of tubular epithelium, and increased fluid secretion, all of which ultimately result in the development of renal cysts. A better understanding of these pathophysiologic mechanisms is now providing the basis for the development of more targeted therapeutic drugs for some of these disorders. Cross-sectional imaging provides useful information for diagnosis, surveillance, prognostication, and evaluation of treatment response in renal cystic diseases. PMID:21071372

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

    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)

  6. The Spacing Principle for Unlearning Abnormal Neuronal Synchrony

    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...

  7. Developmental modes and developmental mechanisms can channel brain evolution

    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.

  8. Association of posterior tibial tendon abnormalities with abnormal signal intensity in the sinus tarsi on MR imaging

    Objective. To evaluate the association of abnormal signal intensity within the sinus tarsi with abnormalities of the posterior tibial tendon (PTT) on MR imaging. Design and patients. Sinus tarsi abnormalities were identified on 30 ankle MR examinations in 29 patients. The PTT and anterior talofibular ligament were retrospectively analyzed for abnormalities in these same patients. Results and conclusions. Tears of the anterior talofibular ligament were found in 13 of 30 (43%) ankles. PTT abnormalities (complete tear, partial tear or dislocation) were seen in 14 of 30 (47%) studies, and were distributed relatively equally between those patients with and without lateral ligament tears. Our results provide evidence of an association between abnormalities of the PTT and the sinus tarsi. The finding of abnormal signal intensity within the sinus tarsi on MR imaging should alert the radiologist to potential abnormalities of the PTT. (orig.)

  9. Association of posterior tibial tendon abnormalities with abnormal signal intensity in the sinus tarsi on MR imaging

    Anderson, M.W. [Virginia Univ., Charlottesville, VA (United States). Dept. of Radiology; Univ. of Virginia Health System, Charlottesville, VA (United States). Dept. of Orthopaedic Surgery; Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States). Dept. of Radiology; Kaplan, P.A.; Dussault, R.G. [Virginia Univ., Charlottesville, VA (United States). Dept. of Radiology; Univ. of Virginia Health System, Charlottesville, VA (United States). Dept. of Orthopaedic Surgery; Hurwitz, S. [Univ. of Virginia Health System, Charlottesville, VA (United States). Dept. of Orthopaedic Surgery

    2000-09-01

    Objective. To evaluate the association of abnormal signal intensity within the sinus tarsi with abnormalities of the posterior tibial tendon (PTT) on MR imaging. Design and patients. Sinus tarsi abnormalities were identified on 30 ankle MR examinations in 29 patients. The PTT and anterior talofibular ligament were retrospectively analyzed for abnormalities in these same patients. Results and conclusions. Tears of the anterior talofibular ligament were found in 13 of 30 (43%) ankles. PTT abnormalities (complete tear, partial tear or dislocation) were seen in 14 of 30 (47%) studies, and were distributed relatively equally between those patients with and without lateral ligament tears. Our results provide evidence of an association between abnormalities of the PTT and the sinus tarsi. The finding of abnormal signal intensity within the sinus tarsi on MR imaging should alert the radiologist to potential abnormalities of the PTT. (orig.)

  10. Anesthetic-Induced Developmental Neurotoxicity

    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.

    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.

    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. Screening human populations for abnormal radiosensitivity

    A relatively rapid and inexpensive in vitro growback assay was developed that uses the irradiated versus the unirradiated re-growth responses of lymphoblastoid cell lines developed from individual donors as an estimator of donor radioresponse. The purpose of this project was to furnish an estimate of the proportion of strains derived from various study populations that may be regarded as exhibiting abnormal radioresponse. The emphasis in this study was on hypersensitivity, because of the known radiation-hypersensitivity and cancer proneness associated with the genetic disorder ataxia-telangiectasia. Using methods developed especially for survival analyses, the percentage of significantly hypersensitive responses was 5.5% in a donor population composed of ostensibly normal individuals. We also examined lines derived from an unselected cancer patient population. These were not enriched, compared to the reference normal population, for hypersensitive responses. We thus conclude that hypersensitivity in vitro is not associated with increased risk for spontaneous development of cancer. However, the failure to observe an association between hypersensitivity and spontaneous cancer does not preclude a correlation between such sensitivity and radiogenic cancer. At the present stage, we would caution against the application of this assay or related in vitro tests to the situation of an individual, as opposed to a population. While we have clear indications that hypersensitivity in vitro is associated with abnormal radioresponse in vivo, this study has identified sources of variation that must be understood before attempts are made to unambiguously attribute a particular type of radioresponse to an individual

  14. Functional neuroimaging abnormalities in idiopathic generalized epilepsy

    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.

  15. First trimester ultrasound screening of chromosomal abnormalities

    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

    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. Genetic abnormalities associated with acute lymphoblastic leukemia.

    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

  18. Eye movement abnormalities in anorexia nervosa.

    Pallanti, S; Quercioli, L; Zaccara, G; Ramacciotti, A B; Arnetoli, G

    1998-03-20

    The aim of the present study is to investigate smooth pursuit eye movement and saccadic performance in anorexia nervosa during a restored weight period and to determine if functional links can be made between eye movement performance and clinical features. SPEM parameters were recorded for 28 female anorectic out-patients (DSM IV), who had a body weight loss of up to 20% of ideal body weight. Twenty-eight comparison subjects were also tested. Clinically, each patient was assessed using the Eating Disorder Inventory (EDI), the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), the Structured Interview for Personality Disorders (SCID II), the Symptom Checklist-90-Revised (SCL-90-R) and the Hamilton Scale for Depression (HRSD). The anorectic patients performed slightly worse than the comparison subjects on a number of SPEM measures. No relationship was found between SPEM impairment and a global severity index of psychopathology (SCL 90-R GSI) or depressive symptoms. Moreover, OCD symptoms and scores on some EDI scales (such as perfectionism) appear related to the severity of the eye movement alterations. The evidence of SPEM abnormalities in a subgroup of anorectic patients during the remitted state and the relationship of the abnormalities to obsessive-compulsive symptoms are discussed. Results are in agreement with the hypothesis regarding the persistence of neurophysiological as well as psychopathological traits of disorder in anorectic patients. PMID:9579703

  19. Small Airway Dysfunction and Abnormal Exercise Responses

    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

  20. Psychotherapy with people with developmental disabilities

    Barbara Zafošnik

    2011-01-01

    People with developmental disabilities can experience any psychological abnormalitiy and psychiatric illness as do people without developmental disabilities. Due to different diagnostic criteria, assessment procedures and instruments, we lack definite prevalence rates for people with developmental disabilities, also suffering from mental health problems, eventhough most studies place the rate at 20 to 40%. One of the possible treatment alternatives for augmenting psychological well-being is p...

  1. Unraveling the Miswired Connectome: A Developmental Perspective

    Di Martino, Adriana; Damien A Fair; Kelly, Clare; Satterthwaite, Theodore D.; Castellanos, F. Xavier; Thomason, Moriah E.; Craddock, R. Cameron; Luna, Beatriz; Leventhal, Bennett L.; Zuo, Xi-Nian; Milham, Michael P.

    2014-01-01

    The vast majority of mental illnesses can be conceptualized as developmental disorders of neural interactions within the connectome, or developmental miswiring. The recent maturation of pediatric in vivo brain imaging is bringing within reach the identification of clinically meaningful brain-based biomarkers of developmental disorders. Even more auspicious, is the ability to study the evolving connectome throughout life, beginning in utero, which promises to move the field from topological ph...

  2. Early Intervention in Children with Developmental Disabilities

    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...

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

    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

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

    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

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

    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.

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

    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.

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

    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

  8. Pengaruh Pengungkapan Corporate Social Responsibility Terhadap Abnormal Return

    Megawati Cheng

    2011-01-01

    Full Text Available Penelitian ini bertujuan mengetahui pengaruh pengungkapan corporate social responsibility (CSR terhadap abnormal return. Penelitian ini menggunakan variabel kontrol return on equity (ROE dan price to book value (PBV. Pengukuran pengungkapan CSR didasarkan pada Global Reporting Initiative (GRI. Sedangkan, abnormal return dihitung dengan menggunakan market adjusted model. Penelitian dilakukan terhadap laporan tahunan 40 perusahaan sumber daya alam yang terdaftar di Bursa Efek Indonesia pada tahun 2007-2009. Hasil penelitian menunjukkan bahwa pengungkapan CSR berpengaruh signifikan terhadap abnormal return yang menandakan bahwa investor mempertimbangkan informasi CSR untuk membuat keputusan. Variabel kontrol ROE berpengaruh signifikan negatif terhadap abnormal return. Sedangkan, Variabel kontrol PBV tidak berpengaruh signifikan terhadap abnormal return.

  9. Report to congress on abnormal occurrences: January--March 1992

    Section 208 of the Energy Reorganization Act of 1974 identifies an abnormal occurrence as 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 January 1 through March 31, 1992. The abnormal occurrences involving medical therapy misadministrations at NRC-licensed facilities are discussed in this report. There were no abnormal occurrences at a nuclear power plant, and none were reported by NRC's Agreement States. The report also contains information updating some previously reported abnormal occurrences

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

    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.

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

    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

  12. Effect of Heavy Metals on the Developmental Stages of Ovule and Embryonic Sac in Euphorbia cheiradenia

    Behrouz E. Malayeri

    2005-01-01

    Full Text Available The aim of this research was to elucidate some microscopic effects of heavy metals on the developmental stages of ovules in plants. We chose a large area in the near Malayer city as a polluted area. In this region amount of heavy metals is several times more than non-polluted area. Flowers and young pods removed from plants. The specimens fixed in FAA70 stored in 70% ethanol, embedded in paraffin and sectioned at 8 μm with microtome. Staining was carried out with Hematoxylin and developmental stages were compared in plants that collected from polluted and non-polluted area. The results of this research showed that heavy metals can affect some abnormality in during of ovule developmental process, in plants that collected from polluted area. These abnormalities include changes of ovule shape, quick degradation of embryonic sac`s cell, quick growth of integuments, an increase in embryonic sac cytoplasm concentration, irregularity and even stopping the nuclear envelope formation. Finally reduction in number of ovules were seen in polluted plants.

  13. Number development and developmental dyscalculia.

    von Aster, Michael G; Shalev, Ruth S

    2007-11-01

    There is a growing consensus that the neuropsychological underpinnings of developmental dyscalculia (DD) are a genetically determined disorder of 'number sense', a term denoting the ability to represent and manipulate numerical magnitude nonverbally on an internal number line. However, this spatially-oriented number line develops during elementary school and requires additional cognitive components including working memory and number symbolization (language). Thus, there may be children with familial-genetic DD with deficits limited to number sense and others with DD and comorbidities such as language delay, dyslexia, or attention-deficit-hyperactivity disorder. This duality is supported by epidemiological data indicating that two-thirds of children with DD have comorbid conditions while one-third have pure DD. Clinically, they differ according to their profile of arithmetic difficulties. fMRI studies indicate that parietal areas (important for number functions), and frontal regions (dominant for executive working memory and attention functions), are under-activated in children with DD. A four-step developmental model that allows prediction of different pathways for DD is presented. The core-system representation of numerical magnitude (cardinality; step 1) provides the meaning of 'number', a precondition to acquiring linguistic (step 2), and Arabic (step 3) number symbols, while a growing working memory enables neuroplastic development of an expanding mental number line during school years (step 4). Therapeutic and educational interventions can be drawn from this model. PMID:17979867

  14. Auditory learning: a developmental method.

    Zhang, Yilu; Weng, Juyang; Hwang, Wey-Shiuan

    2005-05-01

    Motivated by the human autonomous development process from infancy to adulthood, we have built a robot that develops its cognitive and behavioral skills through real-time interactions with the environment. We call such a robot a developmental robot. In this paper, we present the theory and the architecture to implement a developmental robot and discuss the related techniques that address an array of challenging technical issues. As an application, experimental results on a real robot, self-organizing, autonomous, incremental learner (SAIL), are presented with emphasis on its audition perception and audition-related action generation. In particular, the SAIL robot conducts the auditory learning from unsegmented and unlabeled speech streams without any prior knowledge about the auditory signals, such as the designated language or the phoneme models. Neither available before learning starts are the actions that the robot is expected to perform. SAIL learns the auditory commands and the desired actions from physical contacts with the environment including the trainers. PMID:15940990

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

    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...

  16. Developmental potential of clinically discarded human embryos and associated chromosomal analysis.

    Yao, Guidong; Xu, Jiawei; Xin, Zhimin; Niu, Wenbin; Shi, Senlin; Jin, Haixia; Song, Wenyan; Wang, Enyin; Yang, Qingling; Chen, Lei; Sun, Yingpu

    2016-01-01

    Clinically discarded human embryos, which are generated from both normal and abnormal fertilizations, have the potential of developing into blastocysts. A total of 1,649 discarded human embryos, including zygotes containing normal (2PN) and abnormal (0PN, 1PN, 3PN and ≥4PN) pronuclei and prematurely cleaved embryos (2Cell), were collected for in vitro culture to investigate their developmental potential and chromosomal constitution using an SNP array-based chromosomal analysis. We found that blastocyst formation rates were 63.8% (for 2Cell embryos), 22.6% (2PN), 16.7% (0PN), 11.2% (3PN) and 3.6% (1PN). SNP array-based chromosomal analysis of the resultant blastocysts revealed that the percentages of normal chromosomes were 55.2% (2Cell), 60.7% (2PN), 44.4% (0PN) and 47.4% (0PN). Compared with clinical preimplantation genetic diagnosis (PGD) data generated with clinically acceptable embryos, results of the SNP array-based chromosome analysis on blastocysts from clinically discarded embryos showed similar values for the frequency of abnormal chromosome occurrence, aberrant signal classification and chromosomal distribution. The present study is perhaps the first systematic analysis of the developmental potential of clinically discarded embryos and provides a basis for future studies. PMID:27045374

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

    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.

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

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

    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...... 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...

  19. Abnormal neuronal migration: radiologic-clinic study

    We present our experience in 18 pediatric patients with abnormal neuronal migration. Seven cases of heterotopia of the gray matter, 7 agyria-pachygyria complexes, 1 case of polymicrogyria, 2 cases of schizencephaly and 1 case of hemimegalencephaly were diagnosed by means of ultrasonography, computed tomography and magnetic resonance. The clinical picture was reviewed in each case, with special attention to the occurrence of convulsions, psycho motor development and visual changes. In general, the greater the morphological change, the greater the neurological involvement in these patients. However, the two cases of schizencephaly presented mild clinical expression. Magnetic resonance increases the diagnostic yield in neuronal migration disorders. Nevertheless, either ultrasonography or, especially, computed tomography is useful as a first diagnostic approach in these malformative disorders. (Author)

  20. Morphological Abnormalities of Thalamic Subnuclei in Migraine

    Magon, Stefano; May, Arne; Stankewitz, Anne;

    2015-01-01

    UNLABELLED: The thalamus contains third-order relay neurons of the trigeminal system, and animal models as well as preliminary imaging studies in small cohorts of migraine patients have suggested a role of the thalamus in headache pathophysiology. However, larger studies using advanced imaging...... techniques in substantial patient populations are lacking. In the present study, we investigated changes of thalamic volume and shape in a large multicenter cohort of patients with migraine. High-resolution T1-weighted MRI data acquired at 3 tesla in 131 patients with migraine (38 with aura; 30.8 ± 9 years...... a fully automated multiatlas approach. Deformation-based shape analysis was performed to localize surface abnormalities. Differences between patients with migraine and healthy subjects were assessed using an ANCOVA model. After correction for multiple comparisons, performed using the false discovery...

  1. Persistent Pain and Sensory Abnormalities after Abdominoplasty

    Presman, Benjamin; Finnerup, Kenneth; Andresen, Sven R;

    2015-01-01

    characteristics of persistent pain after abdominoplasty, which is one of the most frequent cosmetic surgical procedures. METHODS: In September 2014, a link to a web-based questionnaire was mailed to 217 patients who had undergone abdominoplasty between 2006 and 2014 at the Department of Plastic Surgery, Aalborg......BACKGROUND: Persistent postsurgical pain is a well-recognized problem after a number of common surgical procedures, such as amputation, thoracotomy, and inguinal hernia repair. Less is known about persistent pain after cosmetic surgical procedures. We, therefore, decided to study the incidence and...... University Hospital, Denmark. The questionnaire included questions about pain and sensory abnormalities located to the abdominal skin, and physical and psychological function; patient satisfaction with surgery was rated on a 4-point scale. RESULTS: One hundred seventy patients answered the questionnaire...

  2. Computed tomography of the abnormal thymus

    Baron, R.L.; Lee, J.K.T.; Sagel, S.S.; Levitt, R.G.

    1982-01-01

    Computed tomography (CT) should be the imaging method of choice following plain chest radiographs when a suspected thymic abnormality requires further evaluation. Based upon a six-year experience, including the evaluation of 25 patients with thymic pathology, CT was found useful in suggesting or excluding a diagnosis of thymoma and in distinguishing thymic hyperplasis from thymoma in patients with myasthenia gravis. The thickness of the thymic lobes determined by CT was found to be a more accurate indicator of infiltrative disease (thymic hyperplasia and lymphoma) than the width. CT was helpful in differentiating benign thymic cysts from solid tumors, and in defining the extent of a thymic neoplasms. On occasion, CT may suggest the specific histologic nature of a thymic lesion.

  3. Abnormal uterine bleeding: a clinicohistopathological analysis

    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

  4. Glucose abnormalities in hepatitis C virus infection.

    Huang, Jee-Fu; Yu, Ming-Lung; Dai, Chia-Yen; Chuang, Wan-Long

    2013-02-01

    Hepatitis C virus (HCV) infection is one of the most important causes of cirrhosis and hepatocellular carcinoma and has a tremendous impact on public health worldwide. HCV is both hepatotropic and lymphotropic. Replication of HCV in diseased extrahepatic organs and tissues may either trigger latent autoimmunity or induce autoimmune disorders. In addition to established liver injury, type 2 diabetes mellitus (T2DM) is an important feature of extrahepatic metabolic disorders which is attributed to HCV infection. It also has some impact on the disease activity, disease course, clinical outcomes, and treatment efficacy of antiviral therapy. Previous experimental and clinical findings have highly suggested that HCV per se is diabetogenic. The cause-effect interaction between a common endocrine disorder and an infectious disease is an important issue to elucidate. Although the precise mechanisms whereby HCV infection leads to insulin resistance (IR) and glucose abnormalities are not entirely clear, it differs from the usual pathogenesis of T2DM in those with non-HCV liver diseases. This review initially highlights epidemiological and pathophysiological studies addressing the mutual link between chronic HCV infection (CHC) and T2DM. The characteristics of glucose abnormalities in this special population are depicted from the current evidence. The mutual roles of IR and CHC with respect to the prediction of treatment efficacy, how treatment response affects IR, and the role of pancreatic beta cell function in the entire suite are discussed. With the rapid progression of antiviral therapy for CHC in the past decade, we have also listed some points of future perspective in this issue. PMID:23347806

  5. Protruding labia minora: abnormal or just uncool?

    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

  6. Fetal Hox11 expression patterns predict defective target organs: a novel link between developmental biology and autoimmunity

    Lonyai, Anna; Kodama, Shohta; Burger, Douglas; Faustman, Denise L.

    2008-01-01

    Developmental biology has long been ignored in the etiology and diverse manifestations of autoimmune diseases. Yet a role for development is suggested by intriguing overlaps in particular organs targeted in autoimmune diseases, in this case type 1 diabetes and Sjogren’s syndrome. Patients with type 1 diabetes have high rates of co-occurring Sjogren’s syndrome, and both conditions are associated with hearing loss and tongue abnormalities. All of these co-occurrences are found in organs tracing...

  7. Variables influencing the origins of diverse abnormal behaviors in a large sample of captive chimpanzees (Pan troglodytes).

    Nash, L T; Fritz, J; Alford, P A; Brent, L

    1999-01-01

    The developmental origin of abnormal behaviors is generally associated with early rearing environments that lack sufficient physical and sensory stimulation. However, other factors should also be considered. A large sample of captive chimpanzees (128 males and 140 females) was surveyed for the presence or absence of 18 abnormal behaviors. Origin variables included the subject's source (zoo, pet, performer, or laboratory), rearing (mother- or hand-reared), and sex. Animals were assessed while held at the Primate Foundation of Arizona, University of Texas M. D. Anderson Cancer Center, or White Sands Research Center. There was a confound among origin variables; more hand-reared animals than expected were from laboratories. Logistic regression tested the relationship of rearing and source, with sex as a secondary predictor variable, to each of the abnormal behaviors. There was no clear association between any abnormal behavior and source. However, for coprophagy, relative to animals from the laboratory, zoo animals tended to show a higher prevalence, while performers tended to show a lower prevalence (when rearing and sex were controlled). Rocking and self-sucking were significantly more likely in hand-reared animals. Coprophagy and depilation of self were significantly more likely in mother-reared animals. When rearing and source were statistically controlled, the only significant sex difference was a higher prevalence of coprophagy in females and a higher prevalence of rocking in males. In a second, smaller sample of 25 males and 33 females from Southwest Foundation for Biomedical Research, no significant sex association was found for coprophagy, urophagy, rocking, or self-depilation. In this second sample, coprophagy was also significantly more likely in mother-reared than hand-reared subjects. The association of some abnormal behaviors with mother-rearing suggests that some form of social learning may be involved in the origin of some of these behavior patterns

  8. Cross-Modal Binding in Developmental Dyslexia

    Jones, Manon W.; Branigan, Holly P.; Parra, Mario A.; Logie, Robert H.

    2013-01-01

    The ability to learn visual-phonological associations is a unique predictor of word reading, and individuals with developmental dyslexia show impaired ability in learning these associations. In this study, we compared developmentally dyslexic and nondyslexic adults on their ability to form cross-modal associations (or "bindings") based…

  9. Working Memory in Children with Developmental Disorders

    Alloway, Tracy Packiam; Rajendran, Gnanathusharan; Archibald, Lisa M. D.

    2009-01-01

    The aim of the present study was to directly compare working memory skills across students with different developmental disorders to investigate whether the uniqueness of their diagnosis would impact memory skills. The authors report findings confirming differential memory profiles on the basis of the following developmental disorders: Specific…

  10. Issues Surrounding Children with Developmental Coordination Disorder

    Sugden, David; Kirby, Amanda; Dunford, Carolyn

    2008-01-01

    Like other developmental disorders such as Attention Deficit Hyperactivity Disorder, specific language impairment and dyslexia, there is no shortage of debate surrounding the condition of Developmental Coordination Disorder. The present article takes a global view of many of these debatable issues, starting with definition and terminology, moving…

  11. A developmental model of number representation

    Kucian, K; Kaufmann, L.

    2009-01-01

    We delineate a developmental model of number representations. Notably, developmental dyscalculia (DD) is rarely associated with an all-or-none deficit in numerosity processing as would be expected if assuming abstract number representations. Finally, we suggest that the “generalist genes” view might be a plausible – though thus far speculative – explanatory framework for our model of how number representations develop.

  12. Essential Role of Culture in Developmental Psychology

    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.

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

    .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) • ...

  14. Developmental Dyspraxia: Is It a Unitary Function?

    Ayres, A. Jean; And Others

    1987-01-01

    A group of 182 children (ages four through nine) with known or suspected sensory integrative dysfunction were assessed using tests and clinical observations to examine developmental dyspraxia. The study did not justify the existence of either a unitary function or different types of developmental dyspraxia. (Author/CH)

  15. Specific Developmental Disorders of Scholastic Skills

    Beena Johnson

    2015-01-01

    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 s...

  16. Psychological Resources of Adults with Developmental Dyslexia

    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…

  17. A Taxometric Investigation of Developmental Dyslexia Subtypes

    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…

  18. Delaying Developmental Mathematics: The Characteristics and Costs

    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…

  19. Conducting Informal Developmental Assessments of Infants

    Gibson, Craig P.; Sobjak-Gibson, Kimberly

    2012-01-01

    In terms of assessing a child's developmental abilities, what age group first comes to mind? Often, early childhood educators begin thinking about developmental assessments when children are between the ages of 3 and 5. However, they need to be cognizant of the fact that child development begins from the moment a child is born. It is, therefore,…

  20. 29 CFR 1952.311 - Developmental schedule.

    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...

  1. 29 CFR 1952.321 - Developmental schedule.

    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...

  2. 29 CFR 1952.91 - Developmental schedule.

    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...

  3. 29 CFR 1952.273 - Developmental schedule.

    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...

  4. 29 CFR 1952.341 - Developmental schedule.

    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...

  5. 29 CFR 1952.291 - Developmental schedule.

    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...

  6. 29 CFR 1952.241 - Developmental schedule.

    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...

  7. 29 CFR 1952.151 - Developmental schedule.

    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...

  8. Piaget's Enduring Contribution to Developmental Psychology.

    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…

  9. Handicaps and Developmental Disabilities. Matrix No. 10.

    Prensky, Arthur L.

    This paper summarizes the recent advances achieved by research in the area of developmental disabilities, and discusses directions for future research in this area. Approximately 8 to 10 per cent of the pediatric population suffers from one or more developmental disabilities. The most common of these are learning disabilities, which include some…

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

    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

  11. Developmental systems biology flourishing on new technologies

    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.

  12. Developmental systems biology flourishing on new technologies.

    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

  13. Early Intervention in Children with Developmental Disabilities

    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.

  14. Complementary and alternative medicine in developmental disabilities.

    Brown, Kelly A; Patel, Dilip R

    2005-11-01

    Developmental disabilities (DD) are defined as a diverse group of severe chronic conditions due to mental and/or physical impairments. Individuals with developmental disabilities have difficulty with major life activities including language, mobility, and learning. Developmental disabilities can begin anytime during development--from prenatal up to 22 years of age, and the disability usually lasts throughout a person's lifetime. Autism spectrum disorders, cerebral palsy, mental retardation, and attention deficit hyperactivity disorder are common conditions falling within the definition of developmental disabilities. Complementary and alternative medicine (CAM) is becoming increasingly utilized in the general population for treatment of everything from the common cold to complex and chronic medical conditions. This article reviews the prevalence of different types of CAM used for various developmental disabilities. PMID:16391450

  15. Developmental hip dysplasia in adolescence

    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.

  16. Developmental pathways of motor dysfunction.

    Kleven, Gale A; Bellinger, Seanceray A

    2015-05-01

    Recent evidence has revealed unique patterns of behavioral development after prenatal insult similar to those outlined in studies of adult metabolic dysfunction after prenatal malnutrition. The hallmark features of this Developmental Pathway include a prenatal insult to the nervous system (environmental or genetic) followed by a period of Silent Vulnerability, where no or few functional deficits are observed, and finally emergence of later dysfunction. Possible mechanisms leading to later dysfunction from prenatal insult may include secondary or cascade effects due to the timing of prenatal insults relative to later developing structures in the brain. Methods best employed to study the mechanisms of these pathways are microgenetic and longitudinal designs that include behavioral assessment during the prenatal period of development, and animal models such as the guinea pig. PMID:25864561

  17. South Africa's "Developmental State" Distraction

    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.

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

    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

  19. DEVELOPMENTAL COORDINATION DISORDER IN CHILDREN

    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

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

    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

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

    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.

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

    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

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

    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.

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

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

    2007-01-01

    OBJECTIVE: To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation. METHODS: Enrolled into this prospective multicenter...... 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...... translucency scan and the anomaly scan in week 19. The incidence of severe structural abnormalities was 2.6% and two-thirds of these anomalies were cardiac. There was no significant difference between the incidence in monozygotic and dizygotic twins, nor between twins conceived naturally or those conceived by...

  5. Congenital and acquired orthopedic abnormalities in patients with myelomeningocele.

    Westcott, M A; Dynes, M C; Remer, E M; Donaldson, J S; Dias, L S

    1992-11-01

    This article presents a radiologic review of the spectrum of acquired and congenital orthopedic abnormalities found in patients with myelomeningocele. These abnormalities are caused predominantly by muscle imbalance, paralysis, and decreased sensation in the lower extremity. Iatrogenic injury, such as a postoperative tethered cord, may also cause bone abnormalities. Selected images were obtained from more than 800 children. Important entities presented include spinal curvatures such as kyphosis, scoliosis, and lordosis; subluxation and dislocation of the hip, coxa valga, contractures of the hip, and femoral torsion; knee deformities; rotational abnormalities of the lower extremity and external and internal torsion; ankle and foot abnormalities such as ankle valgus, calcaneus foot, congenital vertical talus (rocker-bottom deformity), and talipes equinovarus; and metaphyseal, diaphyseal, and physeal fractures. Familiarity with congenital abnormalities and an understanding of the pathogenesis of acquired disorders in patients with myelomeningocele are essential for proper radiologic interpretation and timely therapy. PMID:1439018

  6. An Abnormal Speech Detection Algorithm Based on GMM-UBM

    Jun He

    2014-05-01

    Full Text Available To overcome the defects of common used algorithms based on model for abnormal speech recognition, which existed insufficient training data and difficult to fit each type of abnormal characters, an abnormal speech detection method based on GMM-UBM was proposed in this paper. For compensating the defects of methods based on model which difficult to deal with the diversification speech. Firstly, many normal utterances and unknowing type abnormal utterances came from different speaker, were used to train the GMM-UBM for normal speech and abnormal speech, respectively; secondly, the GMM-UBM obtained by training normal speech and abnormal speech were used to s core for these testing utterances. From the results show that compared with GMM and GMM-SVM methods under 24 Gaussians and the ratio of training speech and testing is 6:4, the correct classification ratio of this proposed have 6.1% and 4.4% improvement, respectively

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

    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

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

    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.)

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

    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.)

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

    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...

  11. Differential fractional anisotropy abnormalities in adolescents with ADHD or schizophrenia

    Davenport, Nicholas D.; Karatekin, Canan; White, Tonya; Lim, Kelvin O.

    2010-01-01

    Schizophrenia and ADHD are associated with similar deficits in working memory, attention, and inhibition. Both disorders also involve abnormalities of white matter integrity, possibly reflecting neural communication disruptions. There are likely some regional white matter abnormalities that underlie the common cognitive impairment, though also some regional abnormalities unique to each disorder. We used diffusion tensor imaging (DTI) to compare white matter integrity, as indicated by fraction...

  12. Neuroimaging of schizophrenia: structural abnormalities and pathophysiological implications

    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 ...

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

    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...

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

    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...

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

    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.

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

    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 1H 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.

  17. Abnormal parietal function in conversion paresis.

    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.

  18. Brain MRI abnormalities in neuromyelitis optica

    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.

  19. Screening for fetal and genetic abnormalities.

    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

  20. Chromagen lenses and abnormal colour perception

    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 

  1. Update: consequences of abnormal fetal growth.

    Chernausek, Steven D

    2012-03-01

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

  2. Imaging findings in fetal diaphragmatic abnormalities

    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.)

  3. Imaging findings in fetal diaphragmatic abnormalities.

    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

  4. Surrogate Motherhood and Abortion for Fetal Abnormality.

    Walker, Ruth; van Zyl, Liezl

    2015-10-01

    A diagnosis of fetal abnormality presents parents with a difficult - even tragic - moral dilemma. Where this diagnosis is made in the context of surrogate motherhood there is an added difficulty, namely that it is not obvious who should be involved in making decisions about abortion, for the person who would normally have the right to decide - the pregnant woman - does not intend to raise the child. This raises the question: To what extent, if at all, should the intended parents be involved in decision-making? In commercial surrogacy it is thought that as part of the contractual agreement the intended parents acquire the right to make this decision. By contrast, in altruistic surrogacy the pregnant woman retains the right to make these decisions, but the intended parents are free to decide not to adopt the child. We argue that both these strategies are morally unsound, and that the problems encountered serve to highlight more fundamental defects within the commercial and altruistic models, as well as in the legal and institutional frameworks that support them. We argue in favour of the professional model, which acknowledges the rights and responsibilities of both parties and provides a legal and institutional framework that supports good decision-making. In particular, the professional model acknowledges the surrogate's right to decide whether to undergo an abortion, and the intended parents' obligation to accept legal custody of the child. While not solving all the problems that arise in surrogacy, the model provides a framework that supports good decision-making. PMID:25688455

  5. Imaging findings in fetal diaphragmatic abnormalities

    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.)

  6. Brain MRI abnormalities in neuromyelitis optica

    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.

  7. A balanced t(10;15) translocation in a male patient with developmental language disorder

    Ercan-Sencicek, A. Gulhan; Davis Wright, Nicole R.; Sanders, Stephan J.; Oakman, Nicole; Valdes, Lianna; Bakkaloglu, Betul; Doyle, Niamh; Yrigollen, Carolyn M.; Morgan, Thomas M.; Grigorenko, Elena L.

    2011-01-01

    We report the clinical and cytogenetic findings on a male child with developmental language disorder, no physical abnormalities, and a balanced t(10;15)(q24.1;q21.1) translocation. As the child’s parents are unavailable for investigations, it is unclear whether the translocation is inherited or de novo. Fluorescence in situ hybridization (FISH) analyses were carried out using specific RP11-BAC clones mapping near 15q21.1 and 10q24.1 to refine the location of the breakpoints. The breakpoint on...

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

    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...

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

    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

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

    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

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

    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.

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

    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.

  13. Abnormal traffic flow data detection based on wavelet analysis

    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.

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

    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.

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

    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.

  16. Abnormal behavior in caged birds kept as pets.

    van Hoek, C S; ten Cate, C

    1998-01-01

    There are a limited number of studies dealing with abnormal behavior in caged birds kept as pets. However, these studies demonstrate the presence of abnormal behavior in both songbirds and parrots. Ethological studies on these birds, as well as studies on domestic and zoo birds, indicate that inappropriate rearing and housing conditions may lead to behavioral abnormalities. Together these data indicate that behavioral abnormalities occur among both wild-caught and domesticated pet birds. The severity and magnitude of these abnormalities is probably underestimated, and there is a need for systematic studies on the nature, origin, variability, species-specificity, and reversibility of behavioral problems in pet birds. Abnormal behavior in caged birds may to some extent be prevented and reduced by environmental enrichment. However, most enrichment studies are anecdotal and not based on a thorough analysis of the behavioral abnormalities, which may lead to measures resulting in a reduction of symptoms rather than the underlying causes. Although it is likely that several of these problems could be reduced by modifying rearing and housing conditions, the current insights into the causal mechanisms underlying abnormal behavior of domesticated and wild-caught pet birds are limited, as are the insights into the possibilities of preventing or curing abnormal behavior. PMID:16363987

  17. Abnormalities of the bilateral basal ganglia and thalami - diagnostic possibilities

    Several diseases may cause non specific MRT abnormalities of the bilateral basal ganglia and thalami. As such, diagnosis of the underlying etiology may be difficult to achieve at imaging. In one clinical case are presented the diagnostic possibilities based on clinical date (previous history, clinical symptoms and evolution) and imaging data (type of signal abnormalities, location of lesions and associated abnormalities). The main categories of diseases causing MRT abnormalities of the bilateral basal ganglia and thalami in adult are: toxic, metabolic, vascular, infectious, inflammatory diseases and tumors.

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

    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

  19. Abnormal feeling in swallowing: a complication of cervical spondylopathy

    Objective: To study the relationship between abnormal feeling in swallowing and cervical spondylopathy and improve the understanding of cervical spondylopathy complicated by abnormal feeling in swallowing. Method: The study group included 11 patients who were clinically diagnosed as cervical spondylopathy in our hospital from 1996 to 2002. On Toshiba 500 mA KXO-15C radiography system, patient swallowing dense barium was examined in several projections. Results: Hyperostosis of vertebral body resulted in local compression of the laryngopharynx and the posterior wall of upper esophageal tube, causing abnormal feeling in swallowing. Conclusion: Abnormal feeling in swallowing could be one of the clinical symptoms of cervical spondylopathy

  20. Mathematical impairment associated with high-contrast abnormalities in change detection and magnocellular visual evoked response.

    Jastrzebski, Nicola R; Crewther, Sheila G; Crewther, David P

    2015-10-01

    The cause of developmental dyscalculia, a specific deficit in acquisition of arithmetic skills, particularly of enumeration, has never been investigated with respect to the patency of the visual magnocellular system. Here, the question of dysfunction of the afferent magnocellular cortical input and its dorsal stream projections was tested directly using nonlinear analysis of the visual evoked potential (VEP) and through the psychophysical ability to rapidly detect visual change. A group of young adults with self-reported deficiencies of arithmetical ability, showed marked impairment in magnitude estimation and enumeration performance-though not in lexical decision reaction times when compared with an arithmetically capable group controlled for age and handedness. Multifocal nonlinear VEPs were recorded at low (24 %) and high (96 %) contrast. First- and second-order VEP kernels were comparable between groups at low contrast, but not at high contrast. The mathematically impaired group showed an abnormal lack of contrast saturation in the shortest latency first-order peak (N60) and a delayed P100 positivity in the first slice of the second-order kernel. Both features have previously been argued to be physiological markers of magnocellular function. Mathematically impaired participants also performed worse on a gap paradigm change detection for digit task showing increased reaction times for high-contrast stimuli but not for low-contrast stimuli compared with controls. The VEP results give direct evidence of abnormality in the occipital processing of magnocellular information in those with mathematical impairment. The anomalous high visual contrast physiological and psychophysical performance suggests an abnormality in the inhibitory processes that normally result in saturation of contrast gain in the magnocellular system. PMID:26195163

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

    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

  2. Specific Developmental Disorders of Scholastic Skills

    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.

  3. Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome

    Susan J. Harrison

    2012-05-01

    Progenitor cells in the cerebral cortex undergo dynamic cellular and molecular changes during development. Sall1 is a putative transcription factor that is highly expressed in progenitor cells during development. In humans, the autosomal dominant developmental disorder Townes-Brocks syndrome (TBS is associated with mutations of the SALL1 gene. TBS is characterized by renal, anal, limb and auditory abnormalities. Although neural deficits have not been recognized as a diagnostic characteristic of the disease, ∼10% of patients exhibit neural or behavioral abnormalities. We demonstrate that, in addition to being expressed in peripheral organs, Sall1 is robustly expressed in progenitor cells of the central nervous system in mice. Both classical- and conditional-knockout mouse studies indicate that the cerebral cortex is particularly sensitive to loss of Sall1. In the absence of Sall1, both the surface area and depth of the cerebral cortex were decreased at embryonic day 18.5 (E18.5. These deficiencies are associated with changes in progenitor cell properties during development. In early cortical progenitor cells, Sall1 promotes proliferative over neurogenic division, whereas, at later developmental stages, Sall1 regulates the production and differentiation of intermediate progenitor cells. Furthermore, Sall1 influences the temporal specification of cortical laminae. These findings present novel insights into the function of Sall1 in the developing mouse cortex and provide avenues for future research into potential neural deficits in individuals with TBS.

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

    Yang, Yaling; Wang, Pan; Baker, Laura A; Narr, Katherine L; Joshi, Shantanu H; Hafzalla, George; Raine, Adrian; Thompson, Paul M

    2015-01-01

    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. PMID:26017779

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

    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.

  6. Executive function abnormalities in pathological gamblers

    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.

  7. Intracranial CT abnormality associated with childhood leukemia

    We showed three abnormal CT findings of childhood leukemia. Case 1: A 3-year-old boy was found to have acute lymphocytic leukemia in January, 1980. Following prophylactic skull irradiation totaling 2,300 rad and 30 mg of intrathecal methotrexate, he was treated with oral and intravenous methotrexate (10-15 mg once weekly, totaling 2,035 mg). CT taken 2 years and 3 months after the onset showed fine, high-density spots in the left frontal, temporal, and bilateral parietal subcortical regions, without any contrast enhancement. The high-density spots were diagnosed as parenchymal calcification induced by the irradiation and methotrexate therapy. Case 2: A 5-year-old boy complaining of anemia and fever was diagnosed as having acute myelocytic leukemia and was treated with VAMP and DCVP. In March, 1982, he complained of severe headache, nausea, and vomiting 4.5 years after his onset. There were no neurological deficits nor any nuchal stiffness. A lumbar puncture showed increasing pressure of CSF over 250 mm H2O and a pleocytosis of the myeloblasts. CT showed an enhanced high-density mass in the pineal region and hydrocephalus. He improved and showed a normal CT after treatment with skull irradiation of 2,400 rad and four intraventricular injections of 15 mg methotrexate, 30 mg cytosine arabinoside, and 15 mg hydrocortisone via Ommaya's reservoir. Case 3: A 14-year-old boy who had suffered from acute lymphocytic leukemia, associated with meningeal infiltration, for 2 years and 10 months, complained of headache, disturbance of consciousness, and focal convulsion of the left upper limb in December, 1982. CT demonstrated multiple, round, high-density areas in the cerebral hemispheres. Those high-density areas were diagnosed as intracerebral leukemic masses and/or hemorrhages. After 1400 rad of skull irradiation and steroid therapy, the patient rallied shortly, but then expired. An autopsy was refused. (J.P.N.)

  8. Executive Functions in Developmental Dyslexia

    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.

  9. Developmental effects of prenatal irradiation

    This book is the result of a symposium which was organised jointly by the WHO and the department for nuclear biology of the Gesellschaft fuer Strahlen- und Umweltforschung (Society for Radiation- and Environmental Research) Neuherberg; the Institut fuer Strahlenhygiene (Institute for Radiation Hygiene) of the Federal Board of Health (Bundesgesundheitsamt), Neuherberg and the working group ''Radiation Biology'' in the ''Deutsche Roentgengesellschaft'' and took place in Neuherberg near Munich from the 26.-28. November 1980. Subjects dealt with the lectures were: Developmental disturbances caused by prenatal exposure to either external radiation or incorporation of radionuclides in the organism of the mother. Based on the prenatal radiation effects already known new experiences and new knowledge were reported on and show new consequences on peri- and postnatal development. Radiation effects of incorporated radionuclides include also questions of the biokinetics of radioactive substances at present the emphasis lies on diaplacental penetration. Questions of synergetic effects of radiation and diaplacentally penetrating chemical substances were discussed on the symposium as well. These subjects were also extensively dealt with in a panel discussion. (orig./MG)

  10. DEVELOPMENTAL COORDINATION DISORDER IN CHILDREN

    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.

  11. Pengaruh Pengungkapan Corporate Social Responsibility Terhadap Abnormal Return

    Megawati Cheng; Yulius Jogi Christiawan

    2011-01-01

    Penelitian ini bertujuan mengetahui pengaruh pengungkapan corporate social responsibility (CSR) terhadap abnormal return. Penelitian ini menggunakan variabel kontrol return on equity (ROE) dan price to book value (PBV). Pengukuran pengungkapan CSR didasarkan pada Global Reporting Initiative (GRI). Sedangkan, abnormal return dihitung dengan menggunakan market adjusted model. Penelitian dilakukan terhadap laporan tahunan 40 perusahaan sumber daya alam yang terdaftar di Bursa Efek Indonesia pada...

  12. Management of abnormal radioactive wastes at nuclear power plants

    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.

  13. Real-time Multiple Abnormality Detection in Video Data

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

    2013-01-01

    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...

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

    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…

  15. Abnormal Spatial Asymmetry of Selective Attention in ADHD

    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…

  16. 21 CFR 864.7415 - Abnormal hemoglobin assay.

    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...

  17. Autosomal Chromosome Abnormality: A Cause of Birth Defects.

    Plumridge, Diane

    Intended for parents and professionals, the book explains chromosome abnormalities in lay terms and discusses the relationship of specific conditions to birth defects. Chromosomal abnormalities are defined and factors in diagnosis and recurrence are discussed. Normal chromosome reproduction processes are covered while such numerical abnormalities…

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

    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.…

  19. Context Matters: Support for Leader Developmental Readiness.

    Thompson, Sara E; Reichard, Rebecca J

    2016-03-01

    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. PMID:26895267

  20. Developmental and comparative perspectives of contagious yawning.

    Senju, Atsushi

    2010-01-01

    Contagious yawning (i.e. yawning triggered by perceiving others' yawning) is a well-documented phenomenon, but the mechanism underlying it is still unclear. In this chapter, I review the current evidence about: (1) developmental studies with typically and atypically developing populations, and (2) comparative studies in non-human animals. Developmental studies have revealed that contagious yawning is disturbed in individuals with autism spectrum disorders, suggesting that contagious yawning may share a developmental basis with the capacity for theory of mind. Comparative studies have suggested that contagious yawning can be observed in non-primate species, such as domestic dogs. As dogs are known to have exceptional skills in communicating with humans, it has also been suggested that contagious yawning may be related to the capacity for social communication. These results from developmental and comparative studies are consistent with the claim that the mechanism underlying contagious yawning relates to the capacity for empathy. PMID:20357469

  1. EVALUATION OF POTENTIAL DEVELOPMENTAL NEUROTOXICITY OF ORGANOTINS.

    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...

  2. Developmental Norms for the Sentence Repetition Test.

    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)

  3. Developmental Drama for Brain-Damaged Children

    Martin, Sue

    1977-01-01

    Offers recommendations for using developmental drama including: discussion of organization of the play environment, leaders, and play groups; sensory-awareness games, movement-mime projects, and story dramatizations; and video tape utilization for play evaluation. (MH)

  4. Developmental and Reproductive Toxicology Database (DART)

    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. New Jersey Developmental Disabilities Stakeholders' Forum

    Janice Ballou; David Frank; Audrey McDonald; Julie Rothbard

    2003-01-01

    New Jersey has the challenging task of providing cost-effective, high-quality services to people with developmental disabilities and their families. This report presents the views of a selected group of stakeholders—advocacy groups, service providers, union employees, government agencies, and people with developmental disabilities and their families—to help plan for changes to the system. Areas discussed include resources and funding, program and service planning, and community integratio...

  6. Developmental Regimes in Africa synthesis report

    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...

  7. Contagious yawning: developmental and comparative perspectives

    Senju, Atsushi

    2010-01-01

    Contagious yawning (i.e., yawning triggered by perceiving others’ yawning) is a well-documented phenomenon, but the mechanism underlying it is still unclear. In this chapter, I review the current evidence about (a) developmental studies with typically and atypically developing population and (b) comparative studies in non-human animals. Developmental studies have revealed that contagious yawning is disturbed in individuals with Autism Spectrum Disorders, suggesting that contagi...

  8. The Concept of Development in Developmental Psychopathology

    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...

  9. Report to Congress on abnormal occurrences, July--September 1988

    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, 1988. For this reporting period, there were no abnormal occurrences at nuclear power plants licensed to operate. There were two abnormal occurrences under other NRC-issued licenses: multiple medical therapy misadministrations at a single hospital and a medical diagnostic misadministration. There was one abnormal occurrence reported by an Agreement State (Texas) involving a medical diagnostic misadministration. The report also contains information updating some previously reported abnormal occurrences

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

    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

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

    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

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

    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.

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

    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.

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

    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 .

  15. Developmental immunotoxicity testing of 4-methyl anisole.

    Tonk, Elisa C M; Verhoef, Aart; Gremmer, Eric R; van Loveren, Henk; Piersma, Aldert H

    2015-07-01

    The developmental immunotoxicity of 4-methyl anisole (4MA) was investigated in the rat. Four study designs were used, with either premating or post-weaning onset of exposure, continued to postnatal day 50, and with or without additional oral gavage of pups from postnatal day 10 onward. Reduced litter size (benchmark dose lower confidence limit (BMDL) 80mg/kg bw/day) was the most sensitive developmental parameter, with pup relative organ weight effects observed at similar BMDLs, in the absence of maternal toxicity. Eosinophil numbers were reduced at lower doses (BMDL 16mg/kg bw/day). KLH challenge resulted in increased IL-13 and TNF-α responses, and variably reduced IgG production (BMDL 27mg/kg bw/day). T4 levels were reduced by 11% at maximum with a BMDL of 73mg/kg bw/day. Differences between exposure cohorts were limited and were considered to be without biological significance. This study shows that 4MA induces developmental immunotoxicity at doses below those inducing developmental and general toxicity. These observations being independent of the study designs applied suggest that the post-weaning period, included in all designs, is the most relevant sensitive period for inducing 4MA mediated developmental immunotoxicity. Moreover, this study stresses the importance of including developmental immunotoxicity testing by default in regulatory toxicology. PMID:25882306

  16. Electrocardiogram Abnormalities and Coronary Calcification in Postmenopausal Women

    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.

  17. Phonemic restoration in developmental dyslexia.

    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. Phonemic restoration in developmental dyslexia

    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.

  19. Abnormal/Emergency Situations. Impact of Unmanned Aircraft Systems Emergency and Abnormal Events on the National Airspace System

    2006-01-01

    Access 5 analyzed the differences between UAS and manned aircraft operations under five categories of abnormal or emergency situations: Link Failure, Lost Communications, Onboard System Failures, Control Station Failures and Abnormal Weather. These analyses were made from the vantage point of the impact that these operations have on the US air traffic control system, with recommendations for new policies and procedures included where appropriate.

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

    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

  1. Developmental effects of barium exposure in a marine bivalve (Mytilus californianus)

    Produced water, an aqueous waste of variable composition associated with petroleum and natural gas extraction, is frequently discharged into the marine environment in significant quantities. Concern and controversy exist regarding potential adverse environmental effects related to such discharges. Previous reports indicated that barium (Ba) and/or strontium (Sr) were primarily responsible for the toxicity of a southern California produced water to developing marine embryos. To further investigate toxicity of Ba and Sr in seawater, mussel embryos (Mytilus californianus) were subjected to static exposures of barium acetate and strontium chloride from fertilization through veliger formation. Only Ba exhibited bioactivity at environmentally relevant levels. Adverse effects occurred between 200 and 900 microg/L (ppb); higher concentrations were associated with decreased toxicity and apparent precipitation of Ba salts from seawater. Nominal Ba exposure concentrations between 100 and 900 microg/L yielded measured concentrations of 100 to 550 microg/L soluble Ba when analyzed by inductively coupled argon plasma emission spectroscopy. Adverse developmental effects included abnormal shell calcification and embryo morphology. Exposure of embryos to Ba in state-specific experiments revealed that developmental stages were differentially affected, though they exhibited similar abnormalities. Gastrulae were the most sensitive, while blastula and trochophore larvae were less so. Adverse effects in embryos exposed during the gastrula stage were not reversible despite washing and return to clean seawater. These findings are among the first to demonstrate that low concentrations of soluble Ba in seawater can be toxic and are of potential concern in the marine environment

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

    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)

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

    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.

  4. Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

    Mierla Dana

    2015-06-01

    Full Text Available The purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities. In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

  5. Trisomy 21 and facial developmental instability.

    Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

    2013-05-01

    The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence. PMID:23505010

  6. GEO Satellite Solar Array Abnormality's Analysis and Treatment

    Wang, Junyan; Yang, Yujie; Zhu, Weibo; Liu, Jingyong; Xu, Hui

    Solar array, converting sunlight into electricity, is one of the most important components in satellite energy subsystem. It is significant for in-orbit satellite safety that solar array and its subsidiaries work normally. An abnormal phenomenon that the output current of one solar array suddenly decreased happened in a GEO satellite. Combined with the structure of the solar array system and the trends of relevant parameters during the abnormality, the paper analyzed the possible reasons, and detected the root cause, and finally provided an emergency treatment for this kind of abnormality.

  7. Neuroimaging of schizophrenia: structural abnormalities and pathophysiological implications

    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

  8. Cardiac Arrhythmias and Abnormal Electrocardiograms After Acute Stroke.

    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

  9. Radiologic evaluation of structural abnormalities of the foot

    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

  10. Abnormal biodistribution of radiogallium in persons treated with phenytoin

    After incidentally observing a patient in whom abnormal uptake of gallium-67 citrate appeared to be explained by treatment with phenytoin, we have conducted a prospective study. Of sixteen persons with a seizure disorder treated with phenytoin, five (31 percent) had abnormal uptake of radiogallium either in the mediastinum, pulmonary hilum or both. Of nineteen historical control patients only one had such abnormal uptake. Phenytoin may thus cause the false-positive uptake of radiogallium in lymph nodes; this finding may also prove to have nosological importance in identifying patients at particular risk of the side-effects of this drug

  11. Radiologic abnormalities of the thoraco-lumbar spine in athletes

    A radiologic study of the thoraco-lumbar spine was performed in 143 (117 male and 26 female) athletes (wrestlers, gymnasts, soccer players and tennis players), aged 14 to 25 years and 30 male nonathletes, aged 19 to 25 years. Film interpretation was made after mixing the films from all groups and without knowledge of the individual's identity. Various types of radiologic abnormalities occured in both athletes and non-athletes but were more common among athletes, especially male-gymnasts and wrestlers. Abnormalities of the vertebral ring apophysis occurred exclusively in athletes. Combinations of different types of abnormalities were most common in male gymnasts and wrestlers. (orig.)

  12. Developmental disorders of the female reproductive tract

    ... 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, ...

  13. Developmental variations among Panagrolaimid nematodes indicate developmental system drift within a small taxonomic unit.

    Schiffer, Philipp H; Nsah, Ndifon A; Grotehusmann, Henny; Kroiher, Michael; Loer, Curtis; Schierenberg, Einhard

    2014-06-01

    Comparative studies of nematode embryogenesis among different clades revealed considerable variations. However, to what extent developmental differences exist between closely related species has mostly remained nebulous. Here, we explore the correlation between phylogenetic neighborhood and developmental variation in a restricted and morphologically particularly uniform taxonomic group (Panagrolaimidae) to determine to what extent (1) morphological and developmental characters go along with molecular data and thus can serve as diagnostic tools for the definition of kinship and (2) developmental system drift (DSD; modifications of developmental patterns without corresponding morphological changes) can be found within a small taxonomic unit. Our molecular approaches firmly support subdivision of Panagrolaimid nematodes into two monophyletic groups. These can be discriminated by distinct peculiarities in early embryonic cell lineages and a mirror-image expression pattern of the gene skn-1. This suggests major changes in the logic of cell specification and the action of DSD in the studied representatives of the two neighboring nematode taxa. PMID:24849338

  14. Developmentalism: An Obscure but Pervasive Restriction

    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.

  15. The effects of tritiated water on some developmental stages of tilapia nilotica

    Seven developmental stages of Tilapia nilotica from gastrula (11 hr) to the active feeding and free swimming stage (10-d) were reared in tritiated water of concentrations 10-3 10-2 and 10-1 Ci 1-1. The fish were reared for different lengths of time, the first group for the period till the next developmental stage and the second group till 3 weeks of age or day 21. Treated and control specimens were compared. An over-all delay in development was noted both at the gross morphological and the histological levels in the experimental fish. Growth was stunted. Many had unresorped yolk which was observable externally in the distended abdomens and histologically within the liver. Percent survival was lower in the treated fish and this was, in general, inversely related to developmental stage and tritium concentration of the rearing water. Posthatch larvae were sluggish to inactive. The liver exhibited histological aberrations which include the presence of adipose cells in place of liver parenchyma in the more anterior liver regions. Brains of treated fish, in general were smaller. One instance of an abnormal brain growth and findings on the retinal epithelium, spleen and pancreas are described. Development of gonads and digestive tract was, in general, retarded. (Auth.) 40 refs.; 5 tabs

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

    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

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

    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.

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

    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

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

    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.

  20. Abnormality transient analysis of Monju using a plant system code

    The objectives of the present study are to analyze plant transients caused by small abnormalities and to find plant parameters by which operators can recognize these small abnormalities. In order to evaluate the plant transient during an abnormal situation in the water system using the plant system code NETFLOW++, the turbine and feedwater systems should be analyzed with good precision. The code is validated using the measured data at Monju. Several abnormalities in the water system are candidates of the present study, e.g., feedwater control valve degradation, feedwater pump degradation, heat transfer degradation due to fouling on heat transfer tubes of the evaporator, loss-of-feedwater-heating, etc. All major components in the tertiary system are included in the calculation model such as the steam generators, the high-pressure turbine, the deaerator, the feedwater pump, the feedwater heaters, the feedwater control valves, the steam control valve, extraction lines and drainpipes. (author)