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Dysmorphology

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https://www.readbyqxmd.com/read/28643928/calvarial-bone-development-and-suture-closure-in-dicer-deficient-mice
#1
P Atsawasuwan, M Ouibaidin, B Dalal, H Khan, A Mohammed
OBJECTIVE: To evaluate whether lack of Dicer during calvaria development would lead to dysmorphology of calvaria and suture closure in mice. MATERIALS AND METHODS: A conditional Dicer deficient under Osx promoter mouse was employed in this study. The 4- and 10-week-old conditional Dicer-deficient mice control littermates and Osx-cre transgenic mice were studied for calvarial bone morphology and suture closure. Dry skull, microcomputed tomography (μCT), histological and gene expression studies were investigated to evaluate the effect of Dicer deficiency on calvarial bone morphology and their related genes during calvaria development...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28640243/in-depth-investigations-of-adolescents-and-adults-with-holoprosencephaly-identify-unique-characteristics
#2
Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado, Maximilian Muenke
PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older. Clinical assessments included dysmorphology exams, cognitive testing, swallowing studies, ophthalmic examination, and brain magnetic resonance imaging. Genetic testing included chromosomal microarray, Sanger sequencing for SHH, ZIC2, SIX3, and TGIF, and whole-exome sequencing (WES) of 10 trios...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28624747/who-is-most-affected-by-prenatal-alcohol-exposure-boys-or-girls
#3
Philip A May, Barbara Tabachnick, Julie M Hasken, Anna-Susan Marais, Marlene M de Vries, Ronel Barnard, Belinda Joubert, Marise Cloete, Isobel Botha, Wendy O Kalberg, David Buckley, Zachary R Burroughs, Heidre Bezuidenhout, Luther K Robinson, Melanie A Manning, Colleen M Adnams, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
OBJECTIVE: To examine outcomes among boys and girls that are associated with prenatal alcohol exposure. METHODS: Boys and girls with fetal alcohol spectrum disorders (FASD) and randomly-selected controls were compared on a variety of physical and neurobehavioral traits. RESULTS: Sex ratios indicated that heavy maternal binge drinking may have significantly diminished viability to birth and survival of boys postpartum more than girls by age seven...
June 15, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28612917/neonatal-exposure-to-monosodium-glutamate-results-in-dysmorphology-of-orofacial-lower-motor-neurons
#4
Lindsey Foran, Chloe Kupelian, Swati Laroia, Jeffrey Esper, Randy Joseph Kulesza
Glutamate is the most abundant excitatory neurotransmitter in the central nervous system, and is stored and released by both neurons and astrocytes. Despite the important role of glutamate as a neurotransmitter, high levels of extracellular glutamate can result in excitotoxicity and apoptosis. Monosodium glutamate (MSG) is a naturally occurring sodium salt of glutamic acid that is used as a flavor enhancer in many processed foods. Neonatal exposure to MSG has been shown to result in neurodegeneration in several forebrain regions, characterized by neuronal loss and neuroendocrine abnormalities...
June 14, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28612047/wortmannin-attenuates-seizure-induced-hyperactive-pi3k-akt-mtor-signaling-impaired-memory-and-spine-dysmorphology-in-rats
#5
Angela N Carter, Heather A Born, Amber T Levine, An T Dao, Amanda J Zhao, Wai L Lee, Anne E Anderson
Numerous studies have shown epilepsy-associated cognitive deficits, but less is known about the effects of one single generalized seizure. Recent studies demonstrate that a single, self-limited seizure can result in memory deficits and induces hyperactive phosphoinositide 3-kinase/Akt (protein kinase B)/mechanistic target of rapamycin (PI3K/Akt/mTOR) signaling. However, the effect of a single seizure on subcellular structures such as dendritic spines and the role of aberrant PI3K/Akt/mTOR signaling in these seizure-induced changes are unclear...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28589114/unexpected-findings-in-a-child-with-atypical-hemolytic-uremic-syndrome-an-example-of-how-genomics-is-changing-the-clinical-diagnostic-paradigm
#6
Eleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, Reuben J Pengelly, Catherine Mercer, David Hunt, Sarah Ennis
CBL is a tumor suppressor gene on chromosome 11 encoding a multivalent adaptor protein with E3 ubiquitin ligase activity. Germline CBL mutations are dominant. Pathogenic de novo mutations result in a phenotype that overlaps Noonan syndrome (1). Some patients with CBL mutations go on to develop juvenile myelomonocytic leukemia (JMML), an aggressive malignancy that usually necessitates bone marrow transplantation. Using whole exome sequencing methods, we identified a known mutation in CBL in a 4-year-old Caucasian boy with atypical hemolytic uremic syndrome, moyamoya phenomenon, and dysmorphology consistent with a mild Noonan-like phenotype...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28581210/reduced-cell-surface-levels-of-gpi-linked-markers-in-a-new-case-with-pigg-loss-of-function
#7
Jin James Zhao, Jonatan Halvardson, Alexej Knaus, Patrik Georgii-Hemming, Peter Baeck, Peter Krawitz, Ann-Charlotte Thuresson, Lars Feuk
Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability, seizures and facial dysmorphism. Here we present two siblings with intellectual disability, cerebellar hypoplasia, cerebellar ataxia, early onset seizures and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178...
June 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28509418/sirenomelia-a-multi-systemic-polytopic-field-defect-with-ongoing-controversies
#8
REVIEW
Lucas L Boer, Eva Morava, Willemijn M Klein, Annelieke N Schepens-Franke, Roelof Jan Oostra
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis...
May 16, 2017: Birth defects research
https://www.readbyqxmd.com/read/28504423/genetic-vulnerabilities-to-prenatal-alcohol-exposure-limb-defects-in-sonic-hedgehog-and-gli2-heterozygous-mice
#9
Eric W Fish, Laura B Murdaugh, Kathleen K Sulik, Kevin P Williams, Scott E Parnell
BACKGROUND: Genetic factors influence the physical and neurobehavioral manifestations of prenatal alcohol exposure (PAE). Animal models allow the investigation of specific genes that confer vulnerability to, or protection from, birth defects associated with fetal alcohol spectrum disorders (FASDs). The objective of the present experiments was to determine if genetic alterations in the Sonic Hedgehog (Shh) signaling pathways affect the vulnerability to PAE-induced skeletal defects involving the forelimbs and/or hindlimbs...
May 15, 2017: Birth defects research
https://www.readbyqxmd.com/read/28498341/replication-of-high-fetal-alcohol-spectrum-disorders-prevalence-rates-child-characteristics-and-maternal-risk-factors-in-a-second-sample-of-rural-communities-in-south-africa
#10
Philip A May, Marlene M De Vries, Anna-Susan Marais, Wendy O Kalberg, David Buckley, Colleen M Adnams, Julie M Hasken, Barbara Tabachnick, Luther K Robinson, Melanie A Manning, Heidre Bezuidenhout, Margaret P Adam, Kenneth L Jones, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
Background: Prevalence and characteristics of fetal alcohol syndrome (FAS) and total fetal alcohol spectrum disorders (FASD) were studied in a second sample of three South African rural communities to assess change. Methods: Active case ascertainment focused on children with height, weight and/or head circumference ≤25th centile and randomly-selected children. Final diagnoses were based on dysmorphology, neurobehavioral scores, and maternal risk interviews. Results: Cardinal facial features, head circumference, and total dysmorphology scores differentiated specific FASD diagnostic categories in a somewhat linear fashion but all FASD traits were significantly worse than those of randomly-selected controls...
May 12, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28488957/cumulative-erythrocyte-damage-in-blood-storage-and-relevance-to-massive-transfusions-selective-insights-into-serial-morphological-and-biochemical-findings
#11
REVIEW
Jeffrey S Putter, Jerard Seghatchian
Elucidating the precise mechanisms of cumulative red cell damages during storage and the potential harmful consequences after transfusion are achievable by exacting laboratory science and well-defined clinical studies in progress. Accordingly, for larger magnitude blood transfusions (i.e. 8-12 U in 24 hours), the quality of the stored blood and its characterisation are of special academic and clinical importance. Our main objectives in this review are to illuminate facets of the red cell storage lesion for prolonged storage (0-42 days) by concentrating on various hallmarks of the disorder: 1) identifying and characterising serial markers of the progressive lesion with respect to red cell dysmorphology, deformability, haemolytic fragility and dysfunction both in storage and the microcirculation; and 2) relevant biochemical findings of redox status correlated to oxidative stress of erythrocyte proteins...
April 10, 2017: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/28488459/classification-of-congenital-anomalies-of-the-hand-and-upper-limb
#12
M A Tonkin
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved...
June 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28487520/an-ovine-hepatorenal-fibrocystic-model-of-a-meckel-like-syndrome-associated-with-dysmorphic-primary-cilia-and-tmem67-mutations
#13
C Stayner, C A Poole, S R McGlashan, M Pilanthananond, R Brauning, D Markie, B Lett, L Slobbe, A Chae, A C Johnstone, C G Jensen, J C McEwan, K Dittmer, K Parker, A Wiles, W Blackburne, A Leichter, M Leask, A Pinnapureddy, M Jennings, J A Horsfield, R J Walker, M R Eccles
Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28474389/developmental-functioning-and-medical-co-morbidity-profile-of-children-with-complex-and-essential-autism
#14
Jaimie Flor, Jayne Bellando, Maya Lopez, Amy Shui
Children with Autism Spectrum Disorders (ASD) may be characterized as "complex" (those with microcephaly and/or dysmorphology) or "essential" (those with neither of these two). Previous studies found subjects in the complex group exhibited lower IQ scores, poorer response to behavioral intervention, more seizures and more abnormal EEGs and brain MRIs compared to the essential group. The objective of this study was to determine if there are differences in complex versus essential subjects based on several developmental/psychological measures as well as certain medical comorbidities...
May 5, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28439719/radiological-imaging-of-teratological-fetuses-what-can-we-learn
#15
REVIEW
Lucas L Boer, A N Schepens-Franke, J J A van Asten, D G H Bosboom, K Kamphuis-van Ulzen, T L Kozicz, D J Ruiter, R-J Oostra, W M Klein
OBJECTIVES: To determine the advantages of radiological imaging of a collection of full-term teratological fetuses in order to increase their scientific and educational value. BACKGROUND : Anatomical museums around the world exhibit full-term teratological fetuses. Unfortunately, these museums are regularly considered as "morbid cabinets". Detailed dysmorphological information concerning the exhibited specimens is often lacking. Moreover, fetuses with severe and complex congenital anomalies are frequently diagnosed incompletely, incorrectly or not at all...
June 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28426184/alterations-in-mandibular-morphology-associated-with-glypican-1-and-glypican-3-gene-mutations
#16
M Mian, S Ranjitkar, G C Townsend, P J Anderson
OBJECTIVES: Glypican 1 (GPC1) and glypican 3 (GPC3) are bone co-regulators that act downstream in many of the signalling pathways associated with craniosynostosis. Morphometric data from GPC-knockout mice were analysed to determine whether elimination of GPC1 and GPC3 genes would alter mandibular morphology. SETTING AND SAMPLE POPULATION: The murine model included five male and five female mandibles in each of GPC1-knockout, GPC1/GPC3-knockout and wild-type (control) groups...
April 20, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28407396/a-further-family-of-stromme-syndrome-carrying-cenpf-mutation
#17
Ferda Ozkinay, Tahir Atik, Esra Isik, Zeliha Gormez, Mahmut Sagiroglu, Ozlem Atan Sahin, Nergul Corduk, Huseyin Onay
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28384736/examining-a-new-method-to-studying-velopharyngeal-structures-in-a-child-with-22q11-2-deletion-syndrome
#18
Lakshmi Kollara, Graham Schenck, Michael Jaskolka, Jamie L Perry
Purpose: To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area...
April 6, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#19
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28341476/panel-based-clinical-genetic-testing-in-85-children-with-inherited-retinal-disease
#20
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, Christopher Campbell, Claire M Delaney, Jamie M Ellingford, Georgina Hall, Claire Hardcastle, Jiten Morarji, Elisabeth J Nichol, Lindsi C Williams, Sofia Douzgou, Jill Clayton-Smith, Simon C Ramsden, Vinod Sharma, Susmito Biswas, I Chris Lloyd, Jane L Ashworth, Graeme C Black, Panagiotis I Sergouniotis
PURPOSE: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). DESIGN: Single-center retrospective case series. PARTICIPANTS: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. METHODS: Participants underwent a detailed ophthalmic examination, accompanied by electrodiagnostic testing (EDT) and dysmorphologic assessment where appropriate...
March 21, 2017: Ophthalmology
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