keyword
MENU ▼
Read by QxMD icon Read
search

Dysmorphic

keyword
https://www.readbyqxmd.com/read/28651226/insight-in-body-dysmorphic-disorder-bdd-relative-to-obsessive-compulsive-disorder-ocd-and-psychotic-disorders-revisiting-this-issue-in-light-of-dsm-5
#1
Wei Lin Toh, David J Castle, Rachel L Mountjoy, Ben Buchanan, John Farhall, Susan L Rossell
INTRODUCTION: In DSM-5, body dysmorphic disorder (BDD) was reclassified under the obsessive-compulsive and related disorders (OCRDs), but little is known about the nature of BDD beliefs. This study aimed to compare level of insight in BDD and consider related implications for DSM-5 classification. METHOD: Participants were 27 BDD, 19 obsessive-compulsive disorder (OCD), and 20 psychosis (SZ) participants as well as 42 non-clinical controls (NC), who completed the Brown Assessment of Beliefs Scale (BABS) and Peters Delusions Inventory (PDI)...
June 8, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28649281/chromosome-12q13-13q13-13-microduplication-and-microdeletion-a-case-report-and-literature-review
#2
Jie Hu, Zhishuo Ou, Elena Infante, Sally J Kochmar, Suneeta Madan-Khetarpal, Lori Hoffner, Shafagh Parsazad, Urvashi Surti
BACKGROUND: Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limited number of patients with genomic alteration within this region and lack of systematic analysis of these patients, the common clinical manifestation of these patients has remained elusive. CASE PRESENTATION: Here we report an 802 kb duplication in the 12q13...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28646788/muscle-dysmorphia-and-psychopathology-findings-from-an-italian-sample-of-male-bodybuilders
#3
Claudio Longobardi, Laura Elvira Prino, Matteo Angelo Fabris, Michele Settanni
The aim of this study is to investigate the relationship between the risk of muscle dysmorphia and psychopathological symptoms in an Italian sample of male bodybuilders. METHOD: The sample was recruited online (145 men with a mean age of 30.0 years) and participants were asked to fill out the Muscle Dysmorphic Disorder Inventory (MDDI), Symptom Cheklist-90-R (SCL-90-R), Dissociative Experiences Scale (DES-II), and to provide other socio-demographic data. Bodybuilders at risk of muscle dysmorphia display greater global psychopathology and present higher scores on all SCL-90-R dimensions when compared to bodybuilders not at risk of muscle dysmorphia...
June 17, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28646619/early-insights-into-zika-s-microcephaly-physiopathology-from-the-epicentre-of-the-outbreak-teratogenic-apoptosis-on-the-central-nervous-system
#4
Patricia Jungmann, Pedro Pires, Edward Araujo
Foetal infection by the Zika virus has been implicated in the exceptional rise in the number of mycrocephalic newborns recorded by the end of 2015 in Brazil. The mechanism by which this teratogenic effect is produced in the developing brain has not been entirely established. Very early in the outbreak, we addressed this question by evaluating available initial data from a gestational and post-natal clinical investigation in the Brazilian state of Pernambuco. The present study was undertaken to test the hypothesis that the subtractive dysmorphic brain malformations observed in Zika's microcephaly are primarily due to the massive induction of apoptosis of neuroprogenitor cells...
June 24, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28643928/calvarial-bone-development-and-suture-closure-in-dicer-deficient-mice
#5
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/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#6
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/28635121/exposure-to-sodium-valproate-during-pregnancy-facial-features-and-signs-of-autism
#7
Rachel Stadelmaier, Hanah Nasri, Curtis K Deutsch, Margaret Bauman, Anne Hunt, Christopher J Stodgell, Jane Adams, Lewis B Holmes
BACKGROUND: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28633043/de-novo-12q22-q23-3-duplication-associated-with-temporal-lobe-epilepsy
#8
Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara
PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients...
June 15, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#9
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28624953/genome-wide-analysis-of-differential-dna-methylation-in-silver-russell-syndrome
#10
Di Wu, Chunxiu Gong, Chang Su
Silver-Russell Syndrome (SRS) is clinically heterogeneous disorder characterized by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current evidence strongly implicates imprinted genes as an important etiology of SRS. Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately 7%-10% of SRS patients have maternal uniparental disomy of chromosome 7 (UPD (7) mat); the rest of the SRS patients shows unknown etiology. In this study, we investigate whether there are further DNA methylation defects in SRS patients...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28623346/early-onset-primary-antibody-deficiency-resembling-common-variable-immunodeficiency-challenges-the-diagnosis-of-wiedeman-steiner-and-roifman-syndromes
#11
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N Lambrecht, Frans De Baets, Sergio D Rosenzweig, Elfride De Baere, Filomeen Haerynck
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28619046/identification-of-a-novel-ctcf-mutation-responsible-for-syndromic-intellectual-disability-a-case-report
#12
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
BACKGROUND: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master transcriptional regulator that controls chromatin structure and may serve as insulator and transcriptional activator and repressor...
June 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28618750/morphometric-study-of-the-true-s1-and-s2-of-the-normal-and-dysmorphic-sacralized-sacra
#13
Ayşegül Firat, Kadir Bahadır Alemdaroğlu, Ahmet Özmeriç, Mehmet Yücens, Dinçer Göksülük
BACKGROUND/AIM: This study aimed to generate data for the S1 and S2 alar pedicle and body and the alar orientations for both dysmorphic and normal sacra. MATERIALS AND METHODS: The study comprised two groups: Group N consisted of 53 normal sacra and Group D included 10 dysmorphic sacra. Various features such as alar pedicle circumference; anterior, middle, and posterior axis of the sacral ala; sacral body height and width; and sagittal thickness were measured. RESULTS: In group N, the median anterior axis of the alae was observed to be 30° on the right and 25° on the left, the median midline axis was found to be 20° on the right and 15° on the left, and the median posterior alar axis was -15° on the right and -20° on the left...
June 12, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28613040/chromosomal-microarray-in-clinical-diagnosis-a-study-of-337-patients-with-congenital-anomalies-and-developmental-delays-or-intellectual-disability
#14
Ivona Sansović, Ana-Maria Ivankov, Adriana Bobinec, Mijana Kero, Ingeborg Barišić
AIM: To determine the diagnostic yield and criteria that could help to classify and interpret the copy number variations (CNVs) detected by chromosomal microarray (CMA) technique in patients with congenital and developmental abnormalities including dysmorphia, developmental delay (DD) or intellectual disability (ID), autism spectrum disorders (ASD) and congenital anomalies (CA). METHOD: CMA analysis was performed in 337 patients with DD/ID with or without dysmorphism, ASD, and/or CA...
June 14, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#15
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#16
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28611331/body-dysmorphic-disorder-diagnosis-clinical-aspects-and-treatment-strategies
#17
REVIEW
Rajiv Ahluwalia, Navneet Kaur Bhatia, Priyanka Sethi Kumar, Parvinder Kaur
AIM: With the increased demand to undertake dental aesthetic and reconstructive procedures, it is imperative for all dental clinicians to have an understanding of body dysmorphic disorder (BDD). Patient's preoccupations with perceived defect in appearance or excessive concern about minimal flaws are among diagnostic criteria of BDD. Such patients are difficult to please and often undergo cosmetic procedures such as orthodontic treatment. METHODOLOGY: Literature search in PubMed/MEDLINE was conducted from 1891 to 2015...
March 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28608920/facial-curvature-detects-and-explicates-ethnic-differences-in-effects-of-prenatal-alcohol-exposure
#18
Michael Suttie, Leah Wetherill, Sandra W Jacobson, Joseph L Jacobson, H Eugene Hoyme, Elizabeth R Sowell, Claire Coles, Jeffrey R Wozniak, Edward P Riley, Kenneth L Jones, Tatiana Foroud, Peter Hammond
BACKGROUND: Our objective is to help clinicians detect the facial effects of prenatal alcohol exposure (PAE) by developing computer based tools for screening facial form. METHODS: All 415 individuals considered were evaluated by expert dysmorphologists and categorized as 1) healthy control (HC), 2) fetal alcohol syndrome (FAS) or 3) heavily prenatally alcohol exposed (HE) but not clinically diagnosable as FAS. 3D facial photographs were used to build models of facial form to support discrimination studies...
June 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28605748/characterization-of-the-phenotype-associated-with-microduplication-reciprocal-to-nf1-microdeletion-syndrome
#19
Elisa Tassano, Thea Giacomini, Mariasavina Severino, Alessandra Gamucci, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11...
June 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28603521/novel-combined-immune-deficiency-and-radiation-sensitivity-blended-phenotype-in-an-adult-with-biallelic-variations-in-zap70-and-rnf168
#20
Ivan K Chinn, Robert P Sanders, Asbjørg Stray-Pedersen, Zeynep H Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M Roifman, Troy Quigg, James R Lupski, Jordan S Orange, I Celine Hanson
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of these "mendelizing" disease traits represent phenotypes caused by single-gene defects, a percentage of patients have blended phenotypes caused by pathogenic variants in multiple genes. We describe an adult patient with susceptibility to bacterial, herpesviral, and fungal infections...
2017: Frontiers in Immunology
keyword
keyword
2030
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"