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https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#1
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28345624/the-effects-of-self-selected-light-dark-cycles-and-social-constraints-on-human-sleep-and-circadian-timing-a-modeling-approach
#2
Anne C Skeldon, Andrew J K Phillips, Derk-Jan Dijk
Why do we go to sleep late and struggle to wake up on time? Historically, light-dark cycles were dictated by the solar day, but now humans can extend light exposure by switching on artificial lights. We use a mathematical model incorporating effects of light, circadian rhythmicity and sleep homeostasis to provide a quantitative theoretical framework to understand effects of modern patterns of light consumption on the human circadian system. The model shows that without artificial light humans wakeup at dawn...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28344653/characterization-of-a-de-novo-ssmc-17-detected-in-a-girl-with-developmental-delay-and-dysmorphic-features
#3
Lana Stavber, Sara Bertok, Jernej Kovač, Marija Volk, Luca Lovrečić, Tadej Battelino, Tinka Hovnik
BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344476/effect-of-pelargonidin-isolated-from-ficus-benghalensis-l-on-phenotypic-changes-in-zebrafish-danio-rerio-embryos
#4
Uday Kundap, Yogini Jaiswal, Rachana Sarawade, Leonard Williams, Mohd Farooq Shaikh
In the present study, the extraction and isolation of Pelargonidin, an anthocyanin compound from stem bark of Ficus benghalensis are described. The study also involves evaluation of the effect of Pelargonidin on phenotypic variations in zebra fish embryos. Extraction and isolation of Pelargonidin were carried out by employing liquid-liquid extraction technique, phytochemical tests, column chromatography, UV and FT-IR. In the zebra fish embryo model, Paclitaxel was employed as a negative control. A series of phenotypic changes in different stages of embryonic development were studied with treatment concentrations of Pelargonidin between 3...
February 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#5
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28343630/de-novo-truncating-mutations-in-the-last-and-penultimate-exons-of-ppm1d-cause-an-intellectual-disability-syndrome
#6
Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C Herkert, Elysa J Marco, Marjolein H Willemsen, Tjitske Kleefstra, Mark Hannibal, Joseph T Shieh, Sally Ann Lynch, Frances Flinter, David R FitzPatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury-Ecob, Raphael Bernier, Malin Kvarnung, E A Helena Magnusson, Marja W Wessels, Marjon A van Slegtenhorst, Kristin G Monaghan, Petra de Vries, Joris A Veltman, Christopher J Lord, Lisenka E L M Vissers, Bert B A de Vries
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%-40% of individuals with moderate to severe ID. Recent meta-analyses statistically analyzing de novo mutations in >7,000 individuals with neurodevelopmental disorders highlighted mutations in PPM1D as a possible cause of ID. PPM1D is a type 2C phosphatase that functions as a negative regulator of cellular stress-response pathways by mediating a feedback loop of p38-p53 signaling, thereby contributing to growth inhibition and suppression of stress-induced apoptosis...
March 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#7
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28342854/evolution-of-ligands-receptors-and-metabolizing-enzymes-of-thyroid-signaling
#8
Guillaume Holzer, Natacha Roux, Vincent Laudet
Thyroid hormones (THs) play important roles in vertebrates such as the control of the metabolism, development and seasonality. Given the pleiotropic effects of thyroid disorders (developmental delay, mood disorder, tachycardia, etc), THs signaling is highly investigated, specially using mammalian models. In addition, the critical role of TH in controlling frog metamorphosis has led to the use of Xenopus as another prominent model to study THs action. Nevertheless, animals regarded as non-model species can also improve our understanding of THs signaling...
March 22, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28342581/neurodevelopmental-outcomes-in-infants-undergoing-general-anesthesia
#9
Kelsey A Nestor, Michelle Zeidan, Erin Boncore, Aaron Richardson, Gijo Alex, Michael Weiss, Saleem Islam
PURPOSE: Preclinical data strongly suggest that all agents used for general anesthesia (GA) have detrimental effects on the developing brain. However, clinical data are unclear. The purpose of this study was to use a cohort of infants who underwent GA and understand their neurodevelopmental outcomes. METHODS: A cohort of infants who underwent GA was selected between 2010 and 2011, and a control group was created. Data regarding GA, procedures, and outcomes were collected in 2015...
March 16, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28341548/cos2-kif7-and-osm-3-kif17-regulate-onset-of-outer-segment-development-in-zebrafish-photoreceptors-through-distinct-mechanisms
#10
Tylor R Lewis, Sean R Kundinger, Amira L Pavlovich, Jonathan R Bostrom, Brian A Link, Joseph C Besharse
Zebrafish morphants of osm-3/kif17, a kinesin-2 family member and intraflagellar transport motor, have photoreceptor outer segments that are dramatically reduced in number and size. However, two genetic mutant lines, osm-3/kif17(sa0119) and osm-3/kif17(sa18340), reportedly lack any observable morphological outer segment defects. In this work, we use TALENs to generate an independent allele, osm-3/kif17(mw405), and show that both osm-3/kif17(sa0119) and osm-3/kif17(mw405) have an outer segment developmental delay in both size and density that is fully recovered by 6 days post-fertilization...
March 21, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28341525/two-year-follow-up-outcomes-of-premature-infants-enrolled-in-the-phase-i-trial-of-mesenchymal-stem-cells-transplantation-for-bronchopulmonary-dysplasia
#11
So Yoon Ahn, Yun Sil Chang, Ji Hye Kim, Se In Sung, Won Soon Park
OBJECTIVE: To determine the long-term safety and outcomes of mesenchymal stem cells (MSCs) for bronchopulmonary dysplasia in premature infants enrolled in a previous phase I clinical trial up to 2 years of corrected age (CA). STUDY DESIGN: We assessed serious adverse events, somatic growth, and respiratory and neurodevelopmental outcomes at visit 1 (4-6 months of CA), visit 2 (8-12 months of CA), and visit 3 (18-24 months of CA) in a prospective longitudinal follow-up study up to 2 years' CA of infants who received MSCs (MSC group)...
March 21, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28340966/recognition-memory-is-selectively-impaired-in-adult-rats-exposed-to-binge-like-doses-of-ethanol-during-early-postnatal-life
#12
Nicole M MacIlvane, Joseph M Pochiro, Nicole R Hurwitz, Molly J Goodfellow, Derick H Lindquist
Exposure to alcohol in utero can induce a variety of physical and mental impairments, collectively known as fetal alcohol spectrum disorders (FASD). This study explores the persistent cognitive consequences of ethanol administration in rat pups over postnatal days (PD) 4-9, modeling human third trimester consumption. Between PD65-70, ethanol-exposed (5E) and control rats were evaluated in two variants of recognition memory, the spontaneous novel object recognition (NOR) task, using 20 and 240 min sample-to-test delays, and the associative object-in-context (OIC) task, using a 20 min delay...
December 2016: Alcohol
https://www.readbyqxmd.com/read/28340455/toxicological-and-behavioral-responses-as-a-tool-to-assess-the-effects-of-natural-and-synthetic-dyes-on-zebrafish-early-life
#13
Flavia R Abe, Jacqueline N Mendonça, Luiz A B Moraes, Gisele A R de Oliveira, Carlos Gravato, Amadeu M V M Soares, Danielle P de Oliveira
Organic dyes extracted from natural sources have been widely used to develop safety and eco-friendly dyes as an alternative to synthetic ones, since the latter are usually precursors of mutagenic compounds. Thereby, toxicity tests to non-target organisms are critical step to develop harmless dyes to environment and in this context, zebrafish early life stages are becoming an important alternative model. We aimed to assess the toxic effects of the synthetic dye Basic Red 51 (BR51, used in cosmetic industry), the natural dye erythrostominone (ERY, a potential commercial dye extracted from fungi) and its photodegradation product (DERY), using zebrafish early life assays...
March 9, 2017: Chemosphere
https://www.readbyqxmd.com/read/28339895/does-parental-health-mediate-the-relationship-between-parental-uninsurance-and-insured-children-s-health-outcomes-evidence-from-a-u-s-national-survey
#14
Ilhom Akobirshoev, Diana Bowser, Susan L Parish, Cindy Thomas, Sara S Bachman
Although the United States has made great strides in ensuring near universal health care access for children, the health insurance coverage gap between children and their parents remains high. This study analyzed aggregated data from the 2006-2013 National Health Interview Survey to investigate the direct relationships between parental uninsurance and children's health outcomes. Authors explored how parental health mediates the relationship between parents' health and children's health outcomes. Results suggest that insured children of uninsured parents have worse health status and are at higher risk of asthma, attention-deficit/hyperactivity disorder, developmental delays, learning disabilities, and mental disabilities compared with insured children of insured parents...
March 2, 2017: Health & Social Work
https://www.readbyqxmd.com/read/28339803/transcriptional-comparison-of-myogenesis-in-leghorn-and-low-score-normal-embryos
#15
J Griffin, N St-Pierre, M S Lilburn, M Wick
In a previous study, we reported on a quantitative transcriptomic method which confirmed the temporal transcription of developmental fast skeletal muscle myosin heavy chain (fsMyHC) embryonic isoforms in the embryonic Pectoralis major (PM) of the Single Comb White Leghorn (SCWL). The objective of the current study was to further investigate the transcriptional events underlying embryonic PM growth in the SCWL and a genotype exhibiting partial muscular dystrophy, the Low Score Normal (LSN). We hypothesized that within the SCWL and LSN embryos, there would be differences in the temporal transcription of the fsMyHC isoforms and other myogenic regulatory genes...
February 21, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339607/gross-motor-trajectories-during-the-first-year-of-life-for-preterm-infants-with-very-low-birth-weight
#16
Yu-Han Su, Suh-Fang Jeng, Wu-Shiun Hsieh, Yu-Kang Tu, Yen-Tzu Wu, Li-Chiou Chen
Background.: Early identification of motor dysfunction in very-low-birth-weight (VLBW) preterm infants is important in order to provide early intervention. Objective.: This study was to examine the motor trajectories of VLBW preterm infants during their first year of life and to investigate the predictive ability and influencing factors of the trajectories. Design and Methods.: A total of 342 VLBW preterm infants were prospectively assessed for motor development by the Alberta Infant Motor Scales at 4, 6, 9 and 12 months and for developmental outcomes using the Bayley Scales of Infant and Toddler Development- second edition at 24 months...
February 4, 2017: Physical Therapy
https://www.readbyqxmd.com/read/28338248/surgical-strategy-for-apert-syndrome-retrospective-study-of-developmental-quotient-and-three-dimensional-computerized-tomography
#17
Shoichi Tomita, Takeshi Miyawaki, Yuichirou Nonaka, Shinsuke Sakai, Reiji Nishimura
There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome...
March 24, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28336463/identification-of-a-de-novo-microdeletion-1q44-in-a-patient-with-hypogenesis-of-the-corpus-callosum-seizures-and-microcephaly-a-case-report
#18
Dominik S Westphal, Stephanie Andres, Kirsten I Beitzel, Christine Makowski, Thomas Meitinger, Julia Hoefele
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristic facial dysmorphic signs. Until today, the distinct genetic causes for the different symptoms remain unclear. We here report a 1.2Mb de novo microdeletion 1q44 identified by performing a SNP array analysis. The female patient presented with microcephaly, seizure, hypogenesis of corpus callosum, postaxial hexadactyly, an atrial septal defect, a ventricular septal defect, hypertelorism, a long and smooth philtrum, thin vermilion borders, and micrognathia, all common features of microdeletion 1q44...
March 21, 2017: Gene
https://www.readbyqxmd.com/read/28334956/prune-is-crucial-for-normal-brain-development-and-mutated-in-microcephaly-with-neurodevelopmental-impairment
#19
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V Harlalka, Michael A Simpson, Philip Rich, Fatema Al-Salmi, Michael A Patton, Barry A Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G Hanna, Piero Pucci, Henry Houlden, James R Lupski, Andrew H Crosby, Emma L Baple
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE...
February 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#20
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
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