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https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#1
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
November 25, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27911187/fxr1a-associated-micrornp-a-driver-of-specialized-non-canonical-translation-in-quiescent-conditions
#2
Syed I A Bukhari, Shobha Vasudevan
Eukaryotic protein synthesis is a multifaceted process that requires coordination of a set of translation factors in a particular cellular state. During normal growth and proliferation, cells generally make their proteome via conventional translation that utilizes canonical translation factors. When faced with environmental stress such as growth factor deprivation, or in response to biological cues such as developmental signals, cells can have stalled canonical translation. In this situation, cells adapt alternative modes of translation to make specific proteins necessary for required biological functions under these distinct conditions...
December 2, 2016: RNA Biology
https://www.readbyqxmd.com/read/27902527/white-matter-alterations-in-adults-with-probable-developmental-coordination-disorder-an-mri-diffusion-tensor-imaging-study
#3
Jacqueline Williams, Saman R Kashuk, Peter H Wilson, Graham Thorpe, Gary F Egan
Movement skill difficulties in children [or developmental coordination disorder (DCD)] often persist into adulthood (in up to 70% of cases). The suggestion of white matter microstructure alterations in children with DCD raises the question of whether similar alterations are present in adults with probable DCD (pDCD). Twelve adults with pDCD and 11 adults without pDCD underwent diffusion tensor imaging. The results showed that the pDCD group had significantly lower fractional anisotropy in the corticospinal tract and superior longitudinal fasciculus and lower mean diffusivity in the internal capsule and inferior longitudinal fasciculus...
November 29, 2016: Neuroreport
https://www.readbyqxmd.com/read/27900808/genetic-and-developmental-basis-for-fin-shape-variation-in-african-cichlid-fishes
#4
Dina Navon, Nathan Olearczyk, R Craig Albertson
Adaptive radiations are often characterized by the rapid evolution of traits associated with divergent feeding modes. For example, the evolutionary history of African cichlids is marked by repeated and coordinated shifts in skull, trophic, fin and body shape. Here, we seek to explore the molecular basis for fin shape variation in Lake Malawi cichlids. We first described variation within an F2 mapping population derived by crossing two cichlid species with divergent morphologies including fin shape. We then used this population to genetically map loci that influence variation in this trait...
November 4, 2016: Molecular Ecology
https://www.readbyqxmd.com/read/27899082/interventions-to-improve-gross-motor-performance-in-children-with-neurodevelopmental-disorders-a-meta-analysis
#5
Barbara R Lucas, Elizabeth J Elliott, Sarah Coggan, Rafael Z Pinto, Tracy Jirikowic, Sarah Westcott McCoy, Jane Latimer
BACKGROUND: Gross motor skills are fundamental to childhood development. The effectiveness of current physical therapy options for children with mild to moderate gross motor disorders is unknown. The aim of this study was to systematically review the literature to investigate the effectiveness of conservative interventions to improve gross motor performance in children with a range of neurodevelopmental disorders. METHODS: A systematic review with meta-analysis was conducted...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27898393/a-noncanonical-auxin-sensing-mechanism-is-required-for-organ-morphogenesis-in-arabidopsis
#6
Sara Simonini, Joyita Deb, Laila Moubayidin, Pauline Stephenson, Manoj Valluru, Alejandra Freire-Rios, Karim Sorefan, Dolf Weijers, Jiří Friml, Lars Østergaard
Tissue patterning in multicellular organisms is the output of precise spatio-temporal regulation of gene expression coupled with changes in hormone dynamics. In plants, the hormone auxin regulates growth and development at every stage of a plant's life cycle. Auxin signaling occurs through binding of the auxin molecule to a TIR1/AFB F-box ubiquitin ligase, allowing interaction with Aux/IAA transcriptional repressor proteins. These are subsequently ubiquitinated and degraded via the 26S proteasome, leading to derepression of auxin response factors (ARFs)...
October 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/27895889/amino-acid-transporters-implicated-in-endocytosis-of-buchnera-during-symbiont-transmission-in-the-pea-aphid
#7
Hsiao-Ling Lu, Chun-Che Chang, Alex C C Wilson
BACKGROUND: Many insects host their obligate, maternally transmitted symbiotic bacteria in specialized cells called bacteriocytes. One of the best-studied insect nutritional endosymbioses is that of the aphid and its endosymbiont, Buchnera aphidicola. Aphids and Buchnera are metabolically and developmentally integrated, but the molecular mechanisms underlying Buchnera transmission and coordination with aphid development remain largely unknown. Previous work using electron microscopy to study aphid asexual embryogenesis has revealed that Buchnera transmission involves exocytosis from a maternal bacteriocyte followed by endocytotic uptake by a blastula...
2016: EvoDevo
https://www.readbyqxmd.com/read/27889097/axonal-degeneration-is-regulated-by-a-transcriptional-program-that-coordinates-expression-of-pro-and-anti-degenerative-factors
#8
Maya Maor-Nof, Erez Romi, Hadas Sar Shalom, Valeria Ulisse, Calanit Raanan, Aviv Nof, Dena Leshkowitz, Roland Lang, Avraham Yaron
Developmental neuronal cell death and axonal elimination are controlled by transcriptional programs, of which their nature and the function of their components remain elusive. Here, we identified the dual specificity phosphatase Dusp16 as part of trophic deprivation-induced transcriptome in sensory neurons. Ablation of Dusp16 enhanced axonal degeneration in response to trophic withdrawal, suggesting that it has a protective function. Moreover, axonal skin innervation was severely reduced while neuronal elimination was increased in the Dusp16 knockout...
November 21, 2016: Neuron
https://www.readbyqxmd.com/read/27888271/investigation-of-the-association-between-motor-stereotypy-behavior-with-fundamental-movement-skills-adaptive-functioning-and-autistic-spectrum-disorder-symptomology-in-children-with-intellectual-disabilities
#9
Joanne L Powell, Lydia Pringle, Matt Greig
Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27888101/post-hatching-brain-morphogenesis-and-cell-proliferation-in-the-pulse-type-mormyrid-mormyrus-rume-proboscirostris
#10
Milka Radmilovich, Isabel Barreiro, Leticia Iribarne, Kirsty Grant, Frank Kirschbaum, María E Castelló
The anatomical organization of African Mormyrids' brain is a clear example of departure from the average brain morphotype in teleosts, probably related to functional specialization associated to electrosensory processing and sensory-motor coordination. The brain of Mormyrids is characterized by a well-developed rhombencephalic electrosensory lobe interconnected with relatively large mesencephalic torus semicircularis and optic tectum, and a huge and complex cerebellum. This unique morphology might imply cell addition from extraventricular proliferation zones up to late developmental stages...
November 22, 2016: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/27881599/undercover-gene-control-by-metabolites-and-metabolic-enzymes
#11
REVIEW
Jan A van der Knaap, C Peter Verrijzer
To make the appropriate developmental decisions or maintain homeostasis, cells and organisms must coordinate the expression of their genome and metabolic state. However, the molecular mechanisms that relay environmental cues such as nutrient availability to the appropriate gene expression response remain poorly understood. There is a growing awareness that central components of intermediary metabolism are cofactors or cosubstrates of chromatin-modifying enzymes. As such, their concentrations constitute a potential regulatory interface between the metabolic and chromatin states...
November 1, 2016: Genes & Development
https://www.readbyqxmd.com/read/27878068/genome-methylation-patterns-across-castes-and-generations-in-a-parasitoid-wasp
#12
Roei Shaham, Rachel Ben-Shlomo, Uzi Motro, Tamar Keasar
Environmental influences shape phenotypes within and across generations, often through DNA methylations that modify gene expression. Methylations were proposed to mediate caste and task allocation in some eusocial insects, but how an insect's environment affects DNA methylation in its offspring is yet unknown. We characterized parental effects on methylation profiles in the polyembryonic parasitoid wasp Copidosoma koehleri, as well as methylation patterns associated with its simple caste system. We used methylation-sensitive amplified fragment length polymorphism (MS-AFLP) to compare methylation patterns, among (1) reproductive and soldier larvae; and (2) offspring (larvae, pupae, and adults) of wasps that were reared at either high or low larval density and mated in the four possible combinations...
November 2016: Ecology and Evolution
https://www.readbyqxmd.com/read/27876803/association-mapping-for-phenology-and-plant-architecture-in-maize-shows-higher-power-for-developmental-traits-compared-with-growth-influenced-traits
#13
S Bouchet, P Bertin, T Presterl, P Jamin, D Coubriche, B Gouesnard, J Laborde, A Charcosset
Plant architecture, phenology and yield components of cultivated plants have repeatedly been shaped by selection to meet human needs and adaptation to different environments. Here we assessed the genetic architecture of 24 correlated maize traits that interact during plant cycle. Overall, 336 lines were phenotyped in a network of 9 trials and genotyped with 50K single-nucleotide polymorphisms. Phenology was the main factor of differentiation between genetic groups. Then yield components distinguished dents from lower yielding genetic groups...
November 23, 2016: Heredity
https://www.readbyqxmd.com/read/27876401/developmental-coordination-disorder-and-its-cause-the-road-less-travelled
#14
Michael G Wade, Makinzee Kazeck
We critically review the research literature that seeks to focus on the possible cause of children diagnosed with developmental coordination disorder (DCD). In so doing we contrast the traditional information processing (IP) approach as a model to explain the causal factors that account for the motor deficits present in children with DCD, with a dynamical systems (DS) account which argues that coordination deficits in children with DCD is less to do with problems of poor internal models (a cornerstone of IP theory) and more with a degrading of perception-action coupling...
November 19, 2016: Human Movement Science
https://www.readbyqxmd.com/read/27876343/implications-of-the-idea-of-neurodiversity-for-understanding-the-origins-of-developmental-disorders
#15
REVIEW
Nobuo Masataka
Neurodiversity, a term initially used mostly by civil and human rights movements since the 1990s, refers to the notion that cognitive as well as emotional properties characteristic of developmental disorders such as autism spectrum disorders (ASD) are not necessarily deficits, but fall within normal behavioural variations exhibited by humans. The purpose of the present article is to examine the relevance of this notion to scientific research on ASD. On the assumption that one crucial survival advantage of intelligent activity is vigilance toward dangers in the external world, and such vigilance must work in the social domain as well as in the non-social domain, the author argues that the pattern of operation of an individual person's mind can be categorized according to the domain toward which that individual is more oriented...
November 9, 2016: Physics of Life Reviews
https://www.readbyqxmd.com/read/27875781/long-term-pediatrician-outcomes-of-a-parent-led-curriculum-in-developmental-disabilities
#16
Bruce L Keisling, Elizabeth A Bishop, David A Kube, Jenness M Roth, Frederick B Palmer
: Previous research has demonstrated high satisfaction and perceived relevance of Project DOCC (Delivery of Chronic Care), a parent led curriculum in developmental disabilities, across a sample of medical residents. AIMS: The influence of such a training program on the clinical practices and professional activities of these residents once they are established in their careers as physicians, however, has not been studied; this was the aim of the present study. METHODS: An anonymous follow-up survey was designed and disseminated to physicians who participated in Project DOCC during their one-month developmental disabilities rotation as part of their pediatrics or medicine/pediatric residency between 2002 and 2010...
November 19, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27874270/neurodevelopmental-disorders-are-highly-over-represented-in-children-with-obesity-a-cross-sectional-study
#17
Elisabet Wentz, Anna Björk, Jovanna Dahlgren
OBJECTIVE: To investigate prevalence of neurodevelopmental disorders in children with obesity and to compare body mass index (BMI) and metabolic profile in the children. METHODS: Seventy-six children (37 girls, 39 boys) were consecutively recruited from a university outpatient clinic specialized in severe obesity. Neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and developmental coordination disorder (DCD) were assessed using interviews and questionnaires...
November 22, 2016: Obesity
https://www.readbyqxmd.com/read/27874005/the-hippo-signalling-pathway-coordinates-organ-growth-and-limits-developmental-variability-by-controlling-dilp8-expression
#18
Emilie Boone, Julien Colombani, Ditte S Andersen, Pierre Léopold
Coordination of organ growth during development is required to generate fit individuals with fixed proportions. We recently identified Drosophila Dilp8 as a key hormone in coupling organ growth with animal maturation. In addition, dilp8 mutant flies exhibit elevated fluctuating asymmetry (FA) demonstrating a function for Dilp8 in ensuring developmental stability. The signals regulating Dilp8 activity during normal development are not yet known. Here, we show that the transcriptional co-activators of the Hippo (Hpo) pathway, Yorkie (Yki, YAP/TAZ) and its DNA-binding partner Scalloped (Sd), directly regulate dilp8 expression through a Hpo-responsive element (HRE) in the dilp8 promoter...
November 22, 2016: Nature Communications
https://www.readbyqxmd.com/read/27872851/developmental-toxicity-of-carbon-quantum-dots-to-the-embryos-larvae-of-rare-minnow-gobiocypris-rarus
#19
Yuan-Yuan Xiao, Li Liu, Yao Chen, Yu-Lian Zeng, Ming-Zhi Liu, Li Jin
The toxic effects of CDs on rare minnow (Gobiocypris rarus) embryos at different developmental stages were investigated. The results showed that rare minnow embryos had decreased spontaneous movements, body length, increased heart rate, pericardial edema, yolk sac edema, tail/spinal curvature, various morphological malformations, and decreased hatching rate. Biochemical analysis showed the CDs exposure significantly inhibited the activity of Na(+)/K(+)-ATPase and Ca(2+)-ATPase and increased the MDA contents and the activity of SOD, CAT, and GPX...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27872633/a-factor-linking-floral-organ-identity-and-growth-revealed-by-characterization-of-the-tomato-mutant-unfinished-flower-development-ufd
#20
Sandra Poyatos-Pertíñez, Muriel Quinet, Ana Ortíz-Atienza, Fernando J Yuste-Lisbona, Clara Pons, Estela Giménez, Trinidad Angosto, Antonio Granell, Juan Capel, Rafael Lozano
Floral organogenesis requires coordinated interactions between genes specifying floral organ identity and those regulating growth and size of developing floral organs. With the aim to isolate regulatory genes linking both developmental processes (i.e., floral organ identity and growth) in the tomato model species, a novel mutant altered in the formation of floral organs was further characterized. Under normal growth conditions, floral organ primordia of mutant plants were correctly initiated, however, they were unable to complete their development impeding the formation of mature and fertile flowers...
2016: Frontiers in Plant Science
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