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Dysmorphology

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https://www.readbyqxmd.com/read/28974734/knockout-of-the-epilepsy-gene-depdc5-in-mice-causes-severe-embryonic-dysmorphology-with-hyperactivity-of-mtorc1-signalling
#1
James Hughes, Ruby Dawson, Melinda Tea, Dale McAninch, Sandra Piltz, Dominique Jackson, Laura Stewart, Michael G Ricos, Leanne M Dibbens, Natasha L Harvey, Paul Thomas
DEPDC5 mutations have recently been shown to cause epilepsy in humans. Evidence from in vitro studies has implicated DEPDC5 as a negative regulator of mTORC1 during amino acid insufficiency as part of the GATOR1 complex. To investigate the role of DEPDC5 in vivo we generated a null mouse model using targeted CRISPR mutagenesis. Depdc5 homozygotes display severe phenotypic defects between 12.5-15.5 dpc, including hypotrophy, anaemia, oedema, and cranial dysmorphology as well as blood and lymphatic vascular defects...
October 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28973166/activated-braf-induces-esophageal-dilation-and-gastric-epithelial-hyperplasia-in-mice
#2
Shin-Ichi Inoue, Shingo Takahara, Takeo Yoshikawa, Tetsuya Niihori, Kazuhiko Yanai, Yoichi Matsubara, Yoko Aoki
Germline mutations in BRAF are a major cause of cardio-facio-cutaneous (CFC) syndrome, which is characterized by heart defects, characteristic craniofacial dysmorphology and dermatologic abnormalities. Patients with CFC syndrome also commonly show gastrointestinal dysfunction, including feeding and swallowing difficulties and gastroesophageal reflux. We have previously found that knock-in mice expressing a Braf Q241R mutation exhibit CFC syndrome-related phenotypes, such as growth retardation, craniofacial dysmorphisms, congenital heart defects and learning deficits...
September 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971234/a-novel-dominant-col11a1-mutation-in-a-child-with-stickler-syndrome-type-ii-is-associated-with-recurrent-fractures
#3
M G Vogiatzi, D Li, L Tian, J P Garifallou, C E Kim, H Hakonarson, M A Levine
This case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who was found to have a novel missense mutation in COL11A1, consistent with Stickler syndrome type II. The case illustrates the phenotypic variability of the syndrome, which may include increased fragility in childhood. INTRODUCTION: Stickler syndrome type II is an autosomal dominant disorder caused by mutations in the gene that encodes the type XI collagen chain α1 (COL11A1)...
October 3, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28967531/assessment-of-facial-asymmetry-before-and-after-the-surgical-repair-of-cleft-lip-in-unilateral-cleft-lip-and-palate-cases
#4
D Al-Rudainy, X Ju, F Mehendale, A Ayoub
This study was performed to assess facial asymmetry in patients with unilateral cleft lip and palate (UCLP) before and after primary lip repair. Three-dimensional facial images of 30 UCLP cases (mean age 3.7±0.8months) captured 1-2days before surgery and 4 months after surgery using stereophotogrammetry were analysed. A generic mesh - a mathematical facial mask consisting of thousands of points (vertices) - was conformed on the three-dimensional images. Average preoperative and postoperative conformed facial meshes were obtained and mirrored by reflecting on the lateral plane...
September 26, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28959213/postnatal-craniofacial-skeletal-development-of-female-c57bl-6ncrl-mice
#5
Xiaoxi Wei, Neil Thomas, Nan E Hatch, Min Hu, Fei Liu
The craniofacial skeleton is a complex and unique structure. The perturbation of its development can lead to craniofacial dysmorphology and associated morbidities. Our ability to prevent or mitigate craniofacial skeletal anomalies is at least partly dependent on our understanding of the unique physiological development of the craniofacial skeleton. Mouse models are critical tools for the study of craniofacial developmental abnormalities. However, there is a lack of detailed normative data of mouse craniofacial skeletal development in the literature...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28954222/lipoprotein-lipase-maintains-microglial-innate-immunity-in-obesity
#6
Yuanqing Gao, Andrés Vidal-Itriago, Martin J Kalsbeek, Clarita Layritz, Cristina García-Cáceres, Robby Zachariah Tom, Thomas O Eichmann, Frédéric M Vaz, Riekelt H Houtkooper, Nicole van der Wel, Arthur J Verhoeven, Jie Yan, Andries Kalsbeek, Robert H Eckel, Susanna M Hofmann, Chun-Xia Yi
Consumption of a hypercaloric diet upregulates microglial innate immune reactivity along with a higher expression of lipoprotein lipase (Lpl) within the reactive microglia in the mouse brain. Here, we show that knockdown of the Lpl gene specifically in microglia resulted in deficient microglial uptake of lipid, mitochondrial fuel utilization shifting to glutamine, and significantly decreased immune reactivity. Mice with knockdown of the Lpl gene in microglia gained more body weight than control mice on a high-carbohydrate high-fat (HCHF) diet...
September 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/28913286/treatment-of-nonsyndromic-craniosynostosis-using-multi-split-osteotomy-and-rigid-fixation-with-absorbable-plates
#7
Su Bong Nam, Kyeong Wook Nam, Jae Woo Lee, Kyeong Ho Song, Yong Chan Bae
BACKGROUND: Nonsyndromic craniosynostosis is a relatively common craniofacial anomaly and various techniques were introduced to achieve its operative goals. Authors found that by using smaller bone fragments than that used in conventional cranioplasty, sufficiently rigid bone union and effective regeneration capacity could be achieved with better postoperative outcome, only if their stable fixation was ensured. METHODS: Through bicoronal incisional approach, involved synostotic cranial bone together with its surrounding areas were removed...
December 2016: Arch Craniofac Surg
https://www.readbyqxmd.com/read/28892148/mtor-mutations-in-smith-kingsmore-syndrome-four-additional-patients-and-a-review
#8
G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz Pérez, V Martinez-Glez, P Lapunzina
Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA: 457485), is a rare autosomal dominant disorder reported so far in 23 patients. SKS is characterized by intellectual disability, macrocephaly/hemi/megalencephaly, and seizures. It is also associated with a pattern of facial dysmorphology and other non-neurological features. Germline or mosaic mutations of the mTOR gene have been detected in all patients. The mTOR gene is a key regulator of cell growth, cell proliferation, protein synthesis and synaptic plasticity, and the mTOR pathway (PI3K-AKT-mTOR) is highly regulated and critical for cell survival and apoptosis...
September 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28872565/sinus-pericranii-in-achondroplasia-a-case-report-and-review-of-the-literature
#9
Abbey A Scott, Katelyn D Hodge, Wilfredo Torres-Martinez, Stephen R Dlouhy, Jodi L Smith, David D Weaver
In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis...
October 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28842488/conserved-functional-consequences-of-disease-associated-mutations-in-the-slide-helix-of-kir6-1-and-kir6-2-subunits-of-the-atp-sensitive-potassium-channel
#10
Paige E Cooper, Conor McClenaghan, Xingyu Chen, Anna Stary-Weinzinger, Colin G Nichols
Cantu syndrome (CS) is a condition characterized by a range of anatomical defects, including cardiomegaly, hyper-flexibility of the joints, hypertrichosis, and craniofacial dysmorphology. CS is associated with multiple missense mutations in the genes encoding the regulatory SUR2 subunits of the ATP-sensitive K+ (KATP) channel, as well as two mutations (V65M and C176S) in the Kir6.1 (KCNJ8) subunit. Previous analysis of leucine and alanine substitutions at the Val-65 equivalent site (Val-64) in Kir6.2 indicated no major effects on channel function...
August 23, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28833532/the-relationship-between-brachycephalic-head-features-in-modern-persian-cats-and-dysmorphologies-of-the-skull-and-internal-hydrocephalus
#11
M J Schmidt, M Kampschulte, S Enderlein, D Gorgas, J Lang, E Ludewig, A Fischer, A Meyer-Lindenberg, A R Schaubmar, K Failing, N Ondreka
BACKGROUND: Cat breeders observed a frequent occurrence of internal hydrocephalus in Persian cats with extreme brachycephalic head morphology. OBJECTIVE: To investigate a possible relationship among the grade of brachycephaly, ventricular dilatation, and skull dysmorphologies in Persian cats. ANIMALS: 92 Persian-, 10 Domestic shorthair cats. METHODS: The grade of brachycephaly was determined on skull models based on CT datasets...
September 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#12
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
November 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#13
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#14
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#15
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28756062/determining-the-frequency-of-morphological-characteristics-in-a-sample-of-brazilian-children
#16
Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrósio Fock, Ana Beatriz Alvarez Perez, Décio Brunoni
OBJECTIVE: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. METHODS: This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample...
July 27, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28727969/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#17
E Fletcher, M Porteous, K J McKenzie, E J Maher, M 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 postmortems at 12-24 weeks gestation between January 2011 and December 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...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28723825/feasibility-of-conducting-autism-biomarker-research-in-the-clinical-setting
#18
Laura Sices, Katherine Pawlowski, Laura Farfel, Deirdre Phillips, Yamini Howe, David M Cochran, Roula Choueiri, Peter W Forbes, Stephanie J Brewster, Jean A Frazier, Ann Neumeyer, Carolyn Bridgemohan
OBJECTIVE: Recruitment and completion of research activities during regular clinical care has the potential to increase research participation in complex neurodevelopmental disorders. We evaluated the feasibility, and effect on clinical care, of conducting biomarker research within a subspecialty clinical visit for autism spectrum disorder (ASD). METHODS: Children, aged 5 to 10 years, were recruited by providers in ASD clinics at 5 institutions. Biomarkers collected were growth measurements, head circumference, neurologic and dysmorphology examinations, digit ratio (2D:4D) measurement, and platelet serotonin and urinary melatonin sulfate excretion levels...
September 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#19
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28693455/fainting-fanconi-syndrome-clarified-by-proxy-a-case-report
#20
Stephen Benedict Walsh, Robert Unwin, Robert Kleta, William Van't Hoff, Paul Bass, Khalid Hussain, Sian Ellard, Detlef Bockenhauer
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. CASE PRESENTATION: We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy...
July 11, 2017: BMC Nephrology
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