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https://www.readbyqxmd.com/read/27906623/orotate-orotic-acid-an-essential-and-versatile-molecule
#1
M Löffler, E A Carrey, E Zameitat
Orotate (OA) is well-known as a precursor in biosynthesis of pyrimidines; in mammals it is released from the mitochondrial dihydroorotate dehydrogenase (DHODH) for conversion to UMP by the cytoplasmic UMP synthase enzyme. OA is also a normal part of the diet, being found in milk and dairy products, and it is converted to uridine for use in the pyrimidine salvage pathway predominantly in liver, kidney and erythrocytes. Early research into nutrition identified orotate as "vitamin B13," and its use as a complex with organic cations or metal ions was promulgated in body-building, and in assisting therapies of metabolic syndromes...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27884274/50-years-ago-in-the-journal-of-pediatrics-dysmorphology-teratology
#2
Jennifer A Accardo
No abstract text is available yet for this article.
December 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27870340/developmental-and-evolutionary-significance-of-the-zygomatic-bone
#3
Yann Heuzé, Kazuhiko Kawasaki, Tobias Schwarz, Jeffrey J Schoenebeck, Joan T Richtsmeier
The zygomatic bone is derived evolutionarily from the orbital series. In most modern mammals the zygomatic bone forms a large part of the face and usually serves as a bridge that connects the facial skeleton to the neurocranium. Our aim is to provide information on the contribution of the zygomatic bone to variation in midfacial protrusion using three samples; humans, domesticated dogs, and monkeys. In each case, variation in midface protrusion is a heritable trait produced by one of three classes of transmission: localized dysmorphology associated with single gene dysfunction, selective breeding, or long-term evolution from a common ancestor...
December 2016: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/27870114/the-molecular-genetics-of-autosomal-recessive-nonsyndromic-intellectual-disability-a-mutational-continuum-and-future-recommendations
#4
REVIEW
Muzammil Ahmad Khan, Saadullah Khan, Christian Windpassinger, Muhammad Badar, Zafar Nawaz, Ramzi M Mohammad
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of the brain. Biologically it affects learning capabilities, memory, and cognitive functioning. The basic defining features of ID are characterized by IQ<70, age of onset before 18 years, and impairment of at least two of the adaptive skills. Clinically it is classified in a syndromic (with additional abnormalities) and a nonsyndromic form (with only cognitive impairment). The study of nonsyndromic intellectual disability (NSID) can best explain the pathophysiology of cognition, intelligence and memory...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27835798/distinct-differences-in-striatal-dysmorphology-between-attention-deficit-hyperactivity-disorder-boys-with-and-without-a-comorbid-reading-disability
#5
Dhruman D Goradia, Sherry Vogel, Brianne Mohl, Dalal Khatib, Caroline Zajac-Benitez, Usha Rajan, Arthur Robin, David R Rosenberg, Jeffrey A Stanley
There is evidence of greater cognitive deficits in attention deficit hyperactivity disorder with a comorbid reading disability (ADHD/+RD) compared to ADHD alone (ADHD/-RD). Additionally, the striatum has been consistently implicated in ADHD. However, the extent of morphological alterations in the striatum of ADHD/+RD is poorly understood, which is the main purpose of this study. Based on structural MRI images, the surface deformation of the caudate and putamen was assessed in 59 boys matching in age and IQ [19 ADHD/-RD, 15 ADHD/+RD and 25 typically developing controls (TDC)]...
December 30, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27831545/neuroimaging-findings-in-mowat-wilson-syndrome-a-study-of-54-patients
#6
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski
PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern of brain dysmorphology in MWS has been defined. METHODS: Through brain magnetic resonance imaging (MRI) analysis, we delineated a neuroimaging phenotype in 54 MWS patients with a proven ZEB2 defect, compared it with the features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations...
November 10, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27828986/plasma-mirna-profiles-in-pregnant-women-predict-infant-outcomes-following-prenatal-alcohol-exposure
#7
Sridevi Balaraman, Jordan J Schafer, Alexander M Tseng, Wladimir Wertelecki, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Christina D Chambers, Rajesh C Miranda
Fetal alcohol spectrum disorders (FASD) are difficult to diagnose since many heavily exposed infants, at risk for intellectual disability, do not exhibit craniofacial dysmorphology or growth deficits. Consequently, there is a need for biomarkers that predict disability. In both animal models and human studies, alcohol exposure during pregnancy resulted in significant alterations in circulating microRNAs (miRNAs) in maternal blood. In the current study, we asked if changes in plasma miRNAs in alcohol-exposed pregnant mothers, either alone or in conjunction with other clinical variables, could predict infant outcomes...
2016: PloS One
https://www.readbyqxmd.com/read/27801979/preaxial-polydactyly-following-early-gestational-exposure-to-the-smoothened-agonist-sag-in-c57bl-6j-mice
#8
Eric W Fish, Scott E Parnell, Kathleen K Sulik, Lorinda K Baker, Laura B Murdaugh, David Lamson, Kevin P Williams
BACKGROUND: While pharmacological activation of the Hedgehog (HH) signaling pathway may have therapeutic benefits for developmental and adult diseases, its teratogenic potential is of concern. The membrane molecule Smoothened (SMO) transduces HH signaling and can be acutely modulated by antagonists and agonists. The objective of the current experiments was to determine how maternal treatment with the Smo agonist, SAG, affects the developing limb. METHODS: Pregnant C57BL/6J mice received a single injection of SAG (15, 17, or 20 mg/kg, i...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27788041/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#9
Elaine Fletcher, Mary Porteous, Eddy Maher, Kathryn J McKenzie, Margaret J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome / genome sequencing and the issues these technologies may generate. A systematic review of fetal post mortems performed between Jan 2011 - Dec 2014 was undertaken. Cases where there was no consent for audit, research or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths and neonatal deaths...
October 27, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27755414/virtual-surgery-planning-in-orthomorphic-correction-of-mandibular-dysmorphology
#10
Harsh Pipalia, Praveen Ganesh, Samarth Shetty, Paul C Salins, Rohan Raut, Kiran Kumar Boyina
Three-dimensional virtual surgery programs are widely available for orthognathic surgery. The advent of imaging software programs has proved to be useful for diagnosis, treatment planning, outcome measurement, and three-dimensional surgical simulation. Complex maxillofacial malformations continue to present challenges in analysis and correction beyond modern technology. Orthomorphic correction for mandibular dysmorphology refers to basal bone movement without any change in dental component. The purpose of this paper is to present a virtual surgery planning for surgeons to perform the orthomorphic surgery with precision and quantification...
October 14, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27736681/the-continuum-of-fetal-alcohol-spectrum-disorders-in-a-community-in-south-africa-prevalence-and-characteristics-in-a-fifth-sample
#11
Philip A May, Anna-Susan Marais, Marlene M de Vries, Wendy O Kalberg, David Buckley, Julie M Hasken, Colleen M Adnams, Ronel Barnard, Belinda Joubert, Marise Cloete, Barbara Tabachnick, Luther K Robinson, Melanie A Manning, Kenneth Lyons Jones, Heidre Bezuidenhout, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
BACKGROUND: The prevalence and characteristics of the continuum of diagnoses within fetal alcohol spectrum disorders (FASD) were researched in a fifth sample in a South African community. METHODS: An active case ascertainment approach was employed among all first grade learners in this community (n=862). Following individual examination by clinical geneticists/dysmorphologists, cognitive/behavioral testing, and maternal interviews, final diagnoses were made in multidisciplinary case conferences...
November 1, 2016: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/27734306/functional-connectivity-abnormalities-and-associated-cognitive-deficits-in-fetal-alcohol-spectrum-disorders-fasd
#12
Jeffrey R Wozniak, Bryon A Mueller, Sarah N Mattson, Claire D Coles, Julie A Kable, Kenneth L Jones, Christopher J Boys, Kelvin O Lim, Edward P Riley, Elizabeth R Sowell
: Consistent with well-documented structural and microstructural abnormalities in prenatal alcohol exposure (PAE), recent studies suggest that functional connectivity (FC) may also be disrupted. We evaluated whole-brain FC in a large multi-site sample, examined its cognitive correlates, and explored its potential to objectively identify neurodevelopmental abnormality in individuals without definitive dysmorphic features. Included were 75 children with PAE and 68 controls from four sites...
October 12, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27723380/oculoauriculofrontonasal-dysplasia-syndrome-with-additional-clinical-features
#13
Turan Tunc, Adem Polat, Bilal Altan, Abdul Kerim Yapici, Mehmet Saldir, Sabahattin Sari, Erkan Sari, Yalcin Bayram, Muhitdin Eski
Oculo-auriculo-vertebral spectrum and frontonasal dysplasia are two well-known examples of dysmorphology syndromes. Oculoauriculofrontonasal syndrome (OAFNS) is a clinical entity involving the characteristics of both OAVS and FND and is thought to be a result of the abnormal development of structures in the first and the second branchial arches, including the abnormal morphogenesis of maxillary processes. Herein we report a case of OAFNS with cliteral hypertrophy, premaxillary teeth, and inguinal hernia, features not previously reported in the literature...
October 10, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27722828/structural-brain-anomalies-in-healthy-adolescents-in-the-ncanda-cohort-relation-to-neuropsychological-test-performance-sex-and-ethnicity
#14
Edith V Sullivan, Barton Lane, Dongjin Kwon, M J Meloy, Susan F Tapert, Sandra A Brown, Ian M Colrain, Fiona C Baker, Michael D De Bellis, Duncan B Clark, Bonnie J Nagel, Kilian M Pohl, Adolf Pfefferbaum
Structural MRI of volunteers deemed "normal" following clinical interview provides a window into normal brain developmental morphology but also reveals unexpected dysmorphology, commonly known as "incidental findings." Although unanticipated, these anatomical findings raise questions regarding possible treatment that could even ultimately require neurosurgical intervention, which itself carries significant risk but may not be indicated if the anomaly is nonprogressive or of no functional consequence. Neuroradiological readings of 833 structural MRI from the National Consortium on Alcohol and NeuroDevelopment in Adolescence (NCANDA) cohort found an 11...
October 8, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27720275/combined-soft-and-skeletal-tissue-modelling-of-normal-and%C3%A2-dysmorphic-midface-postnatal-development
#15
Amel Ibrahim, Michael Suttie, Neil W Bulstrode, Jonathan A Britto, David Dunaway, Peter Hammond, Patrizia Ferretti
BACKGROUND: Midface hypoplasia as exemplified by Treacher Collins Syndrome (TCS) can impair appearance and function. Reconstruction involves multiple invasive surgeries with variable long-term outcomes. This study aims to describe normal and dysmorphic midface postnatal development through combined modelling of skeletal and soft tissues and to develop a surgical evaluation tool. MATERIALS AND METHODS: Midface skeletal and soft tissue surfaces were extracted from computed tomography scans of 52 control and 14 TCS children, then analysed using dense surface modelling...
November 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27688069/second-trimester-ultrasound-as-a-tool-for-early-detection-of-fetal-alcohol-spectrum-disorders
#16
Annika C Montag, Andrew D Hull, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Zoryana Sosyniuk, Viktor Dolhov, Kenneth Lyons Jones, Wladimir Wertelecki, Christina D Chambers
BACKGROUND: Early detection of fetal alcohol spectrum disorders (FASDs) is desirable to allow earlier and more comprehensive interventions to be initiated for the mother and infant. We examined prenatal ultrasound as an early method of detecting markers of the physical features and neurobehavioral deficits characteristic of FASD. METHODS: A longitudinal cohort of pregnant women in Ukraine was recruited as part of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders...
November 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27682968/hirschsprung-s-disease-clinical-dysmorphology-genes-micro-rnas-and-future-perspectives
#17
Consolato Sergi, Oana Caluseriu, Hunter McColl, David D Eisenstat
On the occasion of the 100(th) anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort towards identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract (GIT)...
September 28, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27636382/possible-achondroplastic-dwarf-skull-from-montevideo-uruguay
#18
Joseph T Hefner, Michael W Warren
Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans. Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia. The literature available for differential diagnosis of the disorder relies primarily on the postcranial skeleton. In this paper, a possible case of achondroplasia is presented. The cranium presents a unique suite of cranial and craniofacial dysmorphologies...
November 2016: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/27633980/mechanistic-evaluation-of-benzo-a-pyrene-s-developmental-toxicities-mediated-by-reduced-cyp19a1b-activity
#19
Khalid M Alharthy, Faisal F Albaqami, Cammi Thornton, Jone Corrales, Kristine L Willett
Benzo[a]pyrene (BaP) is a ubiquitous environmental contaminant that is both an endocrine disruptor and a carcinogen. Aromatase (CYP19) is a key enzyme in steroidogenesis that is responsible for conversion of androgens to estrogens and thus plays a key role in steroid homeostasis. We hypothesized that some of the adverse outcomes of early developmental exposure to BaP are the result of reduced Cyp19a1b activity. Our goal was to investigate the role of estrogen homeostasis during early development and determine the role of aromatase inhibition as a relevant mechanism in BaP's developmental toxicities...
September 14, 2016: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/27575429/a-systematic-evaluation-of-the-potential-effects-of-trichloroethylene-exposure-on-cardiac-development
#20
Susan L Makris, Cheryl Siegel Scott, John Fox, Thomas B Knudsen, Andrew K Hotchkiss, Xabier Arzuaga, Susan Y Euling, Christina M Powers, Jennifer Jinot, Karen A Hogan, Barbara D Abbott, E Sidney Hunter, Michael G Narotsky
The 2011 EPA trichloroethylene (TCE) IRIS assessment, used developmental cardiac defects from a controversial drinking water study in rats (Johnson et al. [51]), along with several other studies/endpoints to derive reference values. An updated literature search of TCE-related developmental cardiac defects was conducted. Study quality, strengths, and limitations were assessed. A putative adverse outcome pathway (AOP) construct was developed to explore key events for the most commonly observed cardiac dysmorphologies, particularly those involved with epithelial-mesenchymal transition (EMT) of endothelial origin (EndMT); several candidate pathways were identified...
October 2016: Reproductive Toxicology
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