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https://www.readbyqxmd.com/read/28937887/characteristics-and-associated-comorbidities-of-pediatric-dental-patients-treated-under-general-anesthesia
#1
Alexandra Delfiner, Aaron Myers, Christie Lumsden, Steve Chussid, Richard Yoon
OBJECTIVE: To describe characteristics and identify common comorbidities of children receiving dental treatment under general anesthesia at Children's Hospital of New York-Presbyterian. STUDY DESIGN: Electronic medical records of all children that received dental treatment under general anesthesia through the Division of Pediatric Dentistry from 2012-2014 were reviewed. Data describing patient characteristics (age, sex, race/ethnicity, insurance carrier, and American Society of Anesthesiologists physical status classification system), medical history, and justification for treatment were collected...
September 22, 2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#2
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28926831/multiparameter-investigation-of-a-46-xx-46-xy-tetragametic-chimeric-phenotypical-male-patient-with-bilateral-scrotal-ovotestes-and-ovulatory-activity
#3
Yolande van Bever, Katja P Wolffenbuttel, Hennie T Brüggenwirth, Eric Blom, Annelies de Klein, Bert H J Eussen, Florijn van der Windt, Sabine E Hannema, Arianne B Dessens, Lambert C J Dorssers, Katharina Biermann, Remko Hersmus, Yolanda B de Rijke, Leendert H J Looijenga
We report on an adult male initially presenting with gynecomastia and a painless scrotal mass without additional genital anomalies. Hyperpigmentation of the skin following the Blaschko's lines was identified. He underwent gonadectomy because of suspected cancer. Histological analyses revealed an ovotestis with ovulatory activity confirmed by immunohistochemistry with multiple markers. Karyotyping of cultured peripheral blood lymphocytes and a buccal smear revealed a 46,XX/46,XY chimeric constitution with different percentages...
September 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28926086/common-variants-in-dlg1-locus-are-associated-with-non-syndromic-cleft-lip-with-or-without-cleft-palate
#4
Adrianna Mostowska, Agnieszka Gaczkowska, Kacper Żukowski, Kerstin U Ludwig, Kamil K Hozyasz, Piotr Wójcicki, Elizabeth Mangold, Anne C Böhmer, Stefanie Heilmann-Heimbach, Michael Knapp, Małgorzata Zadurska, Barbara Biedziak, Margareta Budner, Agnieszka Lasota, Agata Daktera-Micker, Paweł P Jagodziński
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous etiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Mega-analysis of the pooled individual data from the GWAS and replication study confirmed that common DLG1 variants are associated with the risk of nsCL/P...
September 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28924535/benign-pathogenic-and-copy-number-variations-of-unknown-clinical-significance-in-patients-with-congenital-malformations-and-developmental-delay
#5
M Mihaylova, R Staneva, D Toncheva, M Pancheva, S Hadjidekova
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924227/implication-of-the-glutamate-cystine-antiporter-xct-in-schizophrenia-cases-linked-to-impaired-gsh-synthesis
#6
M Fournier, A Monin, C Ferrari, P S Baumann, P Conus, K Do
xCT is the specific chain of the cystine/glutamate antiporter, which is widely reported to support anti-oxidant defenses in vivo. xCT is therefore at the crossroads between two processes that are involved in schizophrenia: oxidative stress and glutamatergic neurotransmission. But data from human studies implicating xCT in the illness and clarifying the upstream mechanisms of xCT imbalance are still scarce. Low glutathione (GSH) levels and genetic risk in GCLC (Glutamate-Cysteine Ligase Catalytic subunit), the gene of limiting synthesizing enzyme for GSH, are both associated with schizophrenia...
September 18, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28910570/nine-novel-pax9-mutations-and-a-distinct-tooth-agenesis-genotype-phenotype
#7
S-W Wong, D Han, H Zhang, Y Liu, X Zhang, M Z Miao, Y Wang, N Zhao, L Zeng, B Bai, Y-X Wang, H Liu, S A Frazier-Bowers, H Feng
Tooth agenesis is one of the most common developmental anomalies affecting function and esthetics. The paired-domain transcription factor, Pax9, is critical for patterning and morphogenesis of tooth and taste buds. Mutations of PAX9 have been identified in patients with tooth agenesis. Despite significant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the genotype-phenotype correlation between PAX9 and tooth agenesis. In the present study, we complete genetic and phenotypic characterization of multiplex Chinese families with nonsyndromic (NS) tooth agenesis...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28901937/advances-in-paediatric-gastroenterology
#8
REVIEW
Paul K H Tam, Patrick H Y Chung, Shawn D St Peter, Christopher P Gayer, Henri R Ford, Greta C H Tam, Kenneth K Y Wong, Mikko P Pakarinen, Mark Davenport
Recent developments in paediatric gastrointestinal surgery have focused on minimally invasive surgery, the accumulation of high-quality clinical evidence, and scientific research. The benefits of minimally invasive surgery for common disorders like appendicitis and hypertrophic pyloric stenosis are all supported by good clinical evidence. Although minimally invasive surgery has been extended to neonatal surgery, it is difficult to establish its role for neonatal disorders such as oesophageal atresia and biliary atresia through clinical trials because of the rarity of these disorders...
September 9, 2017: Lancet
https://www.readbyqxmd.com/read/28898547/hlx-is-a-candidate-gene-for-a-pattern-of-anomalies-associated-with-congenital-diaphragmatic-hernia-short-bowel-and-asplenia
#9
Sandra A Farrell, Sandi Sodhi, Christian R Marshall, Andrea Guerin, Anne Slavotinek, Tara Paton, Karen Chong, Wilma L Sirkin, Stephen W Scherer, Félix-Antoine Bérubé-Simard, Nicolas Pilon
Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first-cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A>C, predicting p...
September 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28894478/diagnosis-of-primary-ciliary-dyskinesia-summary-of-the-ers-task-force-report
#10
Claudia E Kuehni, Jane S Lucas
KEY POINTS: Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission...
September 2017: Breathe
https://www.readbyqxmd.com/read/28893194/de-novo-metatranscriptome-assembly-and-coral-gene-expression-profile-of-montipora-capitata-with-growth-anomaly
#11
Monika Frazier, Martin Helmkampf, M Renee Bellinger, Scott M Geib, Misaki Takabayashi
BACKGROUND: Scleractinian corals are a vital component of coral reef ecosystems, and of significant cultural and economic value worldwide. As anthropogenic and natural stressors are contributing to a global decline of coral reefs, understanding coral health is critical to help preserve these ecosystems. Growth anomaly (GA) is a coral disease that has significant negative impacts on coral biology, yet our understanding of its etiology and pathology is lacking. In this study we used RNA-seq along with de novo metatranscriptome assembly and homology assignment to identify coral genes that are expressed in three distinct coral tissue types: tissue from healthy corals ("healthy"), GA lesion tissue from diseased corals ("GA-affected") and apparently healthy tissue from diseased corals ("GA-unaffected")...
September 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28887722/dental-anomalies-in-pediatric-patients-with-familial-adenomatous-polyposis
#12
Seth Septer, Brenda Bohaty, Robin Onikul, Vandana Kumar, Karen B Williams, Thomas M Attard, Craig A Friesen, Lynn Roosa Friesen
Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#13
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
September 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28878607/genetic-testing-in-a-cohort-of-complex-esophageal-atresia
#14
Eliane Beauregard-Lacroix, Jessica Tardif, Emmanuelle Lemyre, Zoha Kibar, Christophe Faure, Philippe M Campeau
The objective of the present study is to describe a cohort of complex esophageal atresia and the yield of genetic tests performed for such patients. We selected 45 patients with complex esophageal atresia (EA), namely those having at least one associated anomaly. We reviewed their medical records to assess clinical features, other diagnoses, and genetic investigations. Most of the patients had a diagnosis of VACTERL association (56%) with no genetic variant identified. Interestingly, 5 patients in the cohort (11%) had a right pulmonary hypoplasia or agenesis...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28874636/growth-and-development-of-dentofacial-complex-influenced-by-genetic-and-environmental-factors-using-monozygotic-twins
#15
K K Manjusha, K Jyothindrakumar, A Nishad, K Madhav Manoj
AIM: The purpose of this study was to determine the possible effects of genetic and environmental factors on dentofacial complex using monozygotic twins. MATERIALS AND METHODS: The study sample was made of 21 pairs of monozygotic twins (14 female pairs and seven male pairs) between 10 and 25 years. Pretreatment lateral cephalo-grams were used which were traced and digitized, and various landmarks to determine the anteroposterior and vertical proportions were marked...
September 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28870391/determinants-of-adverse-outcomes-after-systemic-to-pulmonary-shunts-in-biventricular-circulation
#16
Ben Hobbes, Yves d'Udekem, Diana Zannino, Igor E Konstantinov, Christian Brizard, Johann Brink
BACKGROUND: Systemic-to-pulmonary shunts are useful palliative procedures, although many teams have been deterred by high mortality and morbidity. We aimed to identify predictors of adverse outcomes after shunts in biventricular lesions. METHODS: From 2004 to 2014, 173 children had shunt procedures. Morphologies included: tetralogy of Fallot, pulmonary atresia with ventricular septal defect (VSD) with and without major aortopulmonary collaterals (MAPCAs), transposition of great arteries with pulmonary stenosis, and double outlet right ventricle...
September 1, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28862178/spectrum-of-prenatally-detected-central-nervous-system-malformations-neural-tube-defects-continue-to-be-the-leading-foetal-malformation
#17
Anjurani Siddesh, Geetika Gupta, Ram Sharan, Meenal Agarwal, Shubha R Phadke
BACKGROUND & OBJECTIVES: Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28859877/the-effect-of-stimulus-strength-on-binocular-rivalry-rate-in-healthy-individuals-implications-for-genetic-clinical-and-individual-differences-studies
#18
Phillip C F Law, Steven M Miller, Trung T Ngo
Binocular rivalry (BR) occurs when conflicting images concurrently presented to corresponding retinal locations of each eye stochastically alternate in perception. Anomalies of BR rate have been examined in a range of clinical psychiatric conditions. In particular, slow BR rate has been proposed as an endophenotype for bipolar disorder (BD) to improve power in large-scale genome-wide association studies. Examining the validity of BR rate as a BD endophenotype however requires large-scale datasets (n=1000s to 10,000s), a standardized testing protocol, and optimization of stimulus parameters to maximize separation between BD and healthy groups...
August 28, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28859766/no-348-joint-sogc-ccmg-guideline-update-on-prenatal-screening-for-fetal-aneuploidy-fetal-anomalies-and-adverse-pregnancy-outcomes
#19
Francois Audibert, Isabelle De Bie, Jo-Ann Johnson, Nanette Okun, R Douglas Wilson, Christine Armour, David Chitayat, Raymond Kim
OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. INTENDED USERS: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. TARGET POPULATION: All pregnant women receiving counselling and providing informed consent for prenatal screening...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28854222/rahu-is-a-mutant-allele-of-dnmt3c-encoding-a-dna-methyltransferase-homolog-required-for-meiosis-and-transposon-repression-in-the-mouse-male-germline
#20
Devanshi Jain, Cem Meydan, Julian Lange, Corentin Claeys Bouuaert, Nathalie Lailler, Christopher E Mason, Kathryn V Anderson, Scott Keeney
Transcriptional silencing by heritable cytosine-5 methylation is an ancient strategy to repress transposable elements. It was previously thought that mammals possess four DNA methyltransferase paralogs-Dnmt1, Dnmt3a, Dnmt3b and Dnmt3l-that establish and maintain cytosine-5 methylation. Here we identify a fifth paralog, Dnmt3c, that is essential for retrotransposon methylation and repression in the mouse male germline. From a phenotype-based forward genetics screen, we isolated a mutant mouse called 'rahu', which displays severe defects in double-strand-break repair and homologous chromosome synapsis during male meiosis, resulting in sterility...
August 2017: PLoS Genetics
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