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https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#1
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28644860/time-dependent-genetic-analysis-links-field-and-controlled-environment-phenotypes-in-the-model-c4-grass-setaria
#2
Max J Feldman, Rachel E Paul, Darshi Banan, Jennifer F Barrett, Jose Sebastian, Muh-Ching Yee, Hui Jiang, Alexander E Lipka, Thomas P Brutnell, José R Dinneny, Andrew D B Leakey, Ivan Baxter
Vertical growth of plants is a dynamic process that is influenced by genetic and environmental factors and has a pronounced effect on overall plant architecture and biomass composition. We have performed six controlled growth trials of an interspecific Setaria italica x Setaria viridis recombinant inbred line population to assess how the genetic architecture of plant height is influenced by developmental queues, water availability and planting density. The non-destructive nature of plant height measurements has enabled us to monitor height throughout the plant life cycle in both field and controlled environments...
June 23, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28638151/the-crystal-structure-of-human-rogdi-provides-insight-into-the-causes-of-kohlschutter-t%C3%A3-nz-syndrome
#3
Hakbong Lee, Hanbin Jeong, Joonho Choe, Youngsoo Jun, Chunghun Lim, Changwook Lee
Kohlschutter-Tönz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. Rogdi, an essential protein, is highly conserved across metazoans, and mutations in Rogdi are linked to KTS. However, how certain mutations in Rogdi abolish its physiological functions and cause KTS is not known. In this study, we determined the crystal structure of human Rogdi protein at atomic resolution. Rogdi forms a novel elongated curved structure comprising the α domain, a leucine-zipper-like four-helix bundle, and a characteristic β-sheet domain...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28637735/development-of-the-tailored-rett-intervention-and-assessment-longitudinal-trial-database-and-the-rett-evaluation-of-symptoms-and-treatments-rest-questionnaire
#4
Paramala Santosh, Kate Lievesley, Federico Fiori, Jatinder Singh
INTRODUCTION: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT-methyl-CpG-binding protein 2 (MECP2) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#5
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28636935/the-sensory-striatum-is-permanently-impaired-by-transient-developmental-deprivation
#6
Todd M Mowery, Kristina B Penikis, Stephen K Young, Christopher E Ferrer, Vibhakar C Kotak, Dan H Sanes
Corticostriatal circuits play a fundamental role in regulating many behaviors, and their dysfunction is associated with many neurological disorders. In contrast, sensory disorders, like hearing loss (HL), are commonly linked with processing deficits at or below the level of the auditory cortex (ACx). However, HL can be accompanied by non-sensory deficits, such as learning delays, suggesting the involvement of regions downstream of ACx. Here, we show that transient developmental HL differentially affected the ACx and its downstream target, the sensory striatum...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28636430/when-is-embryonic-arrest-broken-in-turtle-eggs
#7
Sean A Williamson, Roger G Evans, Richard D Reina
Turtle embryos enter a state of arrested development in the oviduct, allowing the mother greater flexibility in her reproductive schedule. Development recommences once eggs transition from the hypoxic oviduct to the normoxic nest. Significant mortality can occur if turtle eggs are moved between 12 h and 20 d after oviposition, and this is linked to the recommencement of embryonic development. To better understand the timing of developmental arrest and to determine how movement-induced mortality might be avoided, we determined the latency (i...
September 2017: Physiological and Biochemical Zoology: PBZ
https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#8
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#9
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#10
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635418/infantile-spasms-and-injuries-of-prematurity-short-term-treatment-based-response-and-long-term-outcomes
#11
Adam Wallace, Victoria Allen, Kristen Park, Kelly Knupp
The association of infantile spasms and periventricular leukomalacia and/or intraventricular hemorrhage is well documented. Data regarding early treatment-based and long-term outcomes are limited. A retrospective chart review identified children with infantile spasms born prematurely (<37 weeks) with diagnoses of periventricular leukomalacia and/or intraventricular hemorrhage. Thirteen children were included. Median gestational age was 30 weeks and age of onset of infantile spasms was 8 months. Nine children had intraventricular hemorrhage, 10 had periventricular leukomalacia, and 6 children had both...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28635076/supernumeraries-in-nicolaides-baraitser-syndrome
#12
Bouthayna Al-Tamimi, Stefan Abela, Huw G Jeremiah, Robert D Evans
BACKGROUND: Nicolaides-Baraitser Syndrome(NCBRS) is an extremely rare condition which has been reported in only a few cases. NCBRS is a distinct clinical condition with typical clinical features of pre- and post-natal global developmental delay, impaired speech, and seizures. Microcephaly, sparse hair, anteverted alae nasi, undefined philtrum, prominence of distal phalanges and interphalangeal joints, and short metacarpals are also typical of NCBRS. CASE REPORT: There are no reported cases in the literature of patients with NCBRS presenting with multiple dental impactions, and to the authors' knowledge, this is the 28th fully documented case of NCBRS and only 75 cases identified as potentially having NCBRS...
June 21, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/28631968/improving-kindergarten-readiness-in-children-with-developmental-disabilities-changes-in-neural-correlates-of-response-monitoring
#13
Jennifer Martin McDermott, Katherine C Pears, Jacqueline Bruce, Hyoun K Kim, Leslie Roos, Karen L Yoerger, Philip A Fisher
Among children diagnosed with developmental delays, difficulties in self-regulation are prominent and have been linked to school readiness problems. The current study sought to examine the impact of the Kids in Transition to School (KITS) school readiness intervention program on self-regulation, with a specific focus on response monitoring skills, among children with developmental delays. Children (n = 20 in the KITS group and n = 21 in a services as usual group) were administered a flanker task during which event-related potential data were collected to examine group differences in response monitoring...
February 22, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28630819/concerns-about-the-registered-behavior-technician%C3%A2-in-relation-to-effective-autism-intervention
#14
Justin B Leaf, Ronald Leaf, John McEachin, Mitchell Taubman, Tristram Smith, Sandra L Harris, B J Freeman, Toby Mountjoy, Tracee Parker, Todd Streff, Fred R Volkmar, Andi Waks
In 2014, the Behavior Analyst Certification Board (BACB®) initiated a program for credentialing behavior technicians. The new credential, Registered Behavior Technician™ (RBT®), is for providers of behavioral intervention to a wide range of individuals with mental health needs and developmental delays, including individuals diagnosed with autism spectrum disorder (ASD). The RBT® would represent the entry-level position within the range of the BACB® credentials. Despite the increasing acceptance of this newest level of credential from the behavioral community, the authors of this paper have substantial concerns with the RBT® credential as it relates to the delivery of intervention to individuals diagnosed with ASD...
June 2017: Behavior Analysis in Practice
https://www.readbyqxmd.com/read/28630655/neural-patterns-elicited-by-sentence-processing-uniquely-characterize-typical-development-sli-recovery-and-sli-persistence
#15
Eileen Haebig, Christine Weber, Laurence B Leonard, Patricia Deevy, J Bruce Tomblin
BACKGROUND: A substantial amount of work has examined language abilities in young children with specific language impairment (SLI); however, our understanding of the developmental trajectory of language impairment is limited. Along with studying the behavioral changes that occur across development, it is important to examine the neural indices of language processing for children with different language trajectories. The current study sought to examine behavioral and neural bases of language processing in adolescents showing three different trajectories: those with normal language development (NL), those exhibiting persistent SLI (SLI-Persistent), and those with a history of SLI who appear to have recovered (SLI-Recovered)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28630121/a-novel-recombinant-human-thrombopoietin-therapy-for-the-management-of-immune-thrombocytopenia-in-pregnancy
#16
Zhangyuan Kong, Ping Qin, Shan Xiao, Hai Zhou, Hong Li, Renchi Yang, Xiaofan Liu, Jianmin Luo, Zhichun Li, Guochao Ji, Zhongguang Cui, Yusheng Bai, Yuxia Wu, Linlin Shao, Jun Peng, Jun Ma, Ming Hou
The aim of this study was to determine the safety and efficacy of recombinant human thrombopoietin (rhTPO) for the management of immune thrombocytopenia (ITP) during pregnancy. Pregnant ITP patients were enrolled in the study if they had a platelet count of < 30 × 10(9)/L, were experiencing bleeding manifestations, had failed to respond to corticosteroids and/or intravenous immunoglobulin (IVIG), and had developed refractoriness to platelet transfusion. Thirty-one patients received rhTPO at an initial dose of 300U/kg once daily for 14 days...
June 19, 2017: Blood
https://www.readbyqxmd.com/read/28628668/dose-dependent-effects-of-gamma-radiation-on-the-early-zebrafish-development-and-gene-expression
#17
Selma Hurem, Leonardo Martín Martín, Dag Anders Brede, Eystein Skjerve, Rasoul Nourizadeh-Lillabadi, Ole Christian Lind, Terje Christensen, Vidar Berg, Hans-Christian Teien, Brit Salbu, Deborah Helen Oughton, Peter Aleström, Jan Ludvig Lyche
Ionizing radiation from natural sources or anthropogenic activity has the potential to cause oxidative stress or genetic damage in living organisms, through the ionization and excitation of molecules and the subsequent production of free radicals and reactive oxygen species (ROS). The present work focuses on radiation-induced biological effects using the zebrafish (Danio rerio) vertebrate model. Changes in developmental traits and gene expression in zebrafish were assessed after continuous external gamma irradiation (0...
2017: PloS One
https://www.readbyqxmd.com/read/28627423/severe-developmental-timing-defects-in-the-prothoracicotropic-hormone-ptth-deficient-silkworm-bombyx-mori
#18
Miwa Uchibori-Asano, Takumi Kayukawa, Hideki Sezutsu, Tetsuro Shinoda, Takaaki Daimon
The insect neuropeptide prothoracicotropic hormone (PTTH) triggers the biosynthesis and release of the molting hormone ecdysone in the prothoracic gland (PG), thereby controlling the timing of molting and metamorphosis. Despite the well-documented physiological role of PTTH and its signaling pathway in the PG, it is not clear whether PTTH is an essential hormone for ecdysone biosynthesis and development. To address this question, we established and characterized a PTTH knockout line in the silkworm, Bombyx mori...
June 13, 2017: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28627419/arx-polyalanine-expansion-mutations-lead-to-migration-impediment-in-the-rostral-cortex-coupled-with-a-developmental-deficit-of-calbindin-positive-cortical-gabaergic-interneurons
#19
K Lee, K Ireland, M Bleeze, C Shoubridge
The Aristaless-related homeobox gene (ARX) is indispensable for interneuron development. Patients with ARX polyalanine expansion mutations of the first two tracts (namely PA1 and PA2) suffer from intellectual disability of varying severity, with seizures a frequent comorbidity. The impact of PA1 and PA2 mutations on the brain development is unknown, hindering the search for therapeutic interventions. Here, we characterized the disturbances to cortical interneuron development in mice modeling the two most common ARX polyalanine expansion mutations in human...
June 13, 2017: Neuroscience
https://www.readbyqxmd.com/read/28626334/effect-of-neuro-development-treatment-on-motor-development-in-preterm-infants
#20
Eun-Ju Lee
[Purpose] To investigate the effects of Neuro-Development Treatment on development in the preterm infants. [Subjects and Methods] A total of 96 premature infants were recruited for this study; 62 low birth weight preterm infants (<2.5 kg, high risk infants for developmental delay) and 34 premature infants (>2.5 kg, low risk infants for developmental delay). High risk infants were divided into intervention group (32 infants) and control group (30 infants) at time of admission. Low risk infants were into comparative group (34 infants)...
June 2017: Journal of Physical Therapy Science
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