Search results for " Anomalies"

showing 10 items of 78 documents

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

dysmorphismsComparative Genomic Hybridization12q21 deletiongenetic counselingcopy number variants (CNVs)DNA Copy Number Variationscongenital anomaliesarray-CGH; 12q21 deletion; copy number variants (CNVs); variation intolerant genes; loss of function; developmental delay/intellectual disability (DD/ID); congenital anomalies; dysmorphisms; genetic counseling; patient management12q21 deletion array-CGH congenital anomalies copy number variants (CNVs) developmental delay/intellectual disability (DD/ID) dysmorphisms genetic counseling loss of function patient management variation intolerant genesdevelopmental delay/intellectual disability (DD/ID)variation intolerant genesloss of functionSettore MED/03 - Genetica MedicaChromosome Structuresarray-CGHIntellectual DisabilityGeneticsHumansChromosome Deletionpatient managementGenetics (clinical)Genes
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Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation

2020

Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…

AdultMalePediatricsmedicine.medical_specialtySkeletal anomaliesRadiographyPelvic bones Musculoskeletal system Congenital abnormalities VACTERL association Radiography International classification of diseasesInfant Newborn DiseasesPelvismedicineHumansbusiness.industryIncidenceMedical recordInfant NewbornObstetrics and GynecologyOdds ratiomedicine.diseaseVACTERL associationHypoplasiaMusculoskeletal AbnormalitiesRadiographyAgenesisPediatrics Perinatology and Child HealthFemaleHigh incidencebusinessDigestive System Abnormalities
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Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

2020

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…

EmbryologyCandidate geneGene ExpressionTranscriptomeMiceDatabase and Informatics MethodsMedicine and Health SciencesExomeExomeExome sequencingGenetics0303 health sciencesMultidisciplinaryComputer-Aided Drug DesignQ030305 genetics & hereditySequence analysisRGenomicsCongenital AnomaliesDNA-Binding Proteinsembryonic structuresAmino Acid AnalysisMedicineTranscriptome AnalysisTracheoesophageal FistulaResearch ArticleDrug Research and DevelopmentBioinformaticsSequence analysisScienceIn silicoBiologyResearch and Analysis Methods03 medical and health sciencesExome SequencingGeneticsCongenital DisordersAnimalsHumansddc:610Molecular Biology TechniquesEsophageal AtresiaMolecular BiologyDNA sequence analysis030304 developmental biologyHomeodomain ProteinsPharmacologyMolecular Biology Assays and Analysis TechniquesGene Expression ProfilingEmbryosDNA HelicasesBiology and Life SciencesComputational BiologyEmbryo MammalianGenome AnalysisFANCBRepressor ProteinsGene expression profilingBiological DatabasesDrug DesignMutation DatabasesMutationDevelopmental Biology
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Generalized Virasoro anomaly and stress tensor for dilaton coupled theories

2003

We derive the anomalous transformation law of the quantum stress tensor for a 2D massless scalar field coupled to an external dilaton. This provides a generalization of the Virasoro anomaly which turns out to be consistent with the trace anomaly. We apply it together with the equivalence principle to compute the expectation values of the covariant quantum stress tensor on a curved background. Finally we briefly illustrate how to evaluate vacuum polarization and Hawking radiation effects from these results.

Tensor contractionPhysicsAstrofísicaHigh Energy Physics - TheoryNuclear and High Energy PhysicsCauchy stress tensorDilaton coupled theoriesHawking radiationFOS: Physical sciencesGeneral Relativity and Quantum Cosmology (gr-qc)General Relativity and Quantum CosmologyHigh Energy Physics::TheoryGeneral Relativity and Quantum CosmologyClassical mechanicsHigh Energy Physics - Theory (hep-th)Stress tensorDilatonCovariant transformationVacuum polarizationVacuum polarizationAnomaly (physics)Tensor densityScalar fieldVirasoro and trace anomaliesMathematical physics
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The Added-Value of Remotely-Sensed Soil Moisture Data for Agricultural Drought Detection in Argentina

2021

In countries where the economy relies mostly on agricultural-livestock activities, such as Argentina, droughts cause significant economic losses. Currently, the most-used drought indices by the Argentinian National Meteorological and Hydrological Services are based on field precipitation data, such as the standardized precipitation index (SPI) and the standardized precipitation evapotranspiration index (SPEI). In this article, we explored the performance of the satellite-based soil moisture agricultural drought index (SMADI) for agricultural drought detection in Argentina during 2010-2015, and compared it with the one from the standardized soil moisture anomalies (SSMA), SPI and SPEI (at on…

Atmospheric ScienceIndex (economics)Moisturebusiness.industryQC801-809Agricultural drought detectionGeophysics. Cosmic physicsArgentinastandardized precipitation evapotranspiration index (SPEI)standardized soil moisture anomalies (SSMA)Ocean engineeringAgricultureEvapotranspirationStatisticsEnvironmental scienceFalse positive ratePrecipitationComputers in Earth Sciencessoil moisture agricultural drought index (SMADI)Temporal scalesbusinessWater contentstandardized precipitation index (SPI)TC1501-1800IEEE Journal of Selected Topics in Applied Earth Observations and Remote Sensing
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Sudden cardiac death due to anomalous origin of the right coronary artery: A case report in a child

2006

medicine.medical_specialtyVascular diseasebusiness.industrySocio-culturaleContraction band necrosisAnomalous origin right coronary arterymedicine.diseaseSudden deathCoronary heart diseaseSudden cardiac deathSurgerySudden cardiac deathAnomalous origin right coronary artery; Contraction band necrosis; Sudden cardiac death; Coronary Vessel Anomalies; Death Sudden Cardiac; Fatal Outcome; Humans; Infant; Male; Myocardium; Necrosis; Sinus of Valsalva; Cardiology and Cardiovascular MedicineRight coronary arterymedicine.arteryInternal medicineCirculatory systemmedicineCardiologyCongenital diseaseSudden cardiac death; Anomalous origin right coronary artery; Contraction band necrosisCardiology and Cardiovascular MedicinebusinessContraction band necrosisInternational Journal of Cardiology
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Paper 6: EUROCAT member registries: organization and activities.

2011

BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…

EmbryologyPediatricsDatabases FactualENGLANDMultiple congenital anomalyAge limit0302 clinical medicinePregnancyPrenatal DiagnosisPrevalenceConfidentiality030212 general & internal medicineRegistriesRISK0303 health scienceseducation.field_of_studyFetal death030305 genetics & hereditycongenital anomaly registriesGeneral MedicineorganizationStillbirthascertainment3. Good healthComputer algorithmEuropeCONGENITAL-ANOMALIESPrenatal screeningEvaluation Studies as TopicPopulation SurveillanceCommittee MembershipFemaleMedical emergencymedicine.medical_specialtyPopulationPopulation basedCongenital Abnormalities03 medical and health sciencesmedicineHumanseducationFetal DeathInternetbusiness.industryRENACAbortion InducedEstados de Saúde e de Doençamedicine.diseasepopulation-basedcongenital anomalies ; Europe ; multiple congenital anomaly ; computer algorithm ; classification ; surveillance ; etiologyPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth defects research. Part A, Clinical and molecular teratology
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Coronary Artery Fistula in Down Syndrome: A Hidden Association

2017

Heart Septal Defects VentricularVena Cava SuperiorFistula Down Syndrome AssociationCoronary Vessel AnomaliesInfant NewbornCoronary VesselsUltrasonography PrenatalDiagnosis DifferentialEchocardiographyArteriovenous FistulaHumansFemaleDown Syndrome
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Spectrum of congenital anomalies in pregnancies with pregestational diabetes

2012

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies re…

MaleEmbryologyPediatricsPregestational DiabetesPregnancy in DiabeticsMELLITUSPregnancyRisk FactorsNeural Tube DefectsRegistriesLivebirthsRISKeducation.field_of_studyOUTCOMESlivebirthsWOMENEarGeneral MedicineASSOCIATIONCongenital AnomaliesEuropeAnotiaPopulation SurveillanceFemaleNEURAL-TUBE DEFECTSLive BirthHernia UmbilicalAdultHeart Defects Congenitalmedicine.medical_specialtyPopulationPopulation Basedpopulation basedCongenital AbnormalitiesYoung AdultDiabetes mellitusAnencephalyBIRTH-DEFECTSmedicineDiabetes MellitusHumansMALFORMATIONSRisk factoreducationTYPE-1Congenital MicrotiaOmphaloceleSpina bifidabusiness.industrycongenital anomaliesInfant NewbornOdds ratioNATIONWIDEmedicine.diseaseEstados de Saúde e de Doençapregestational diabetesPregnancy ComplicationsPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth Defects Research. Part A: Clinical and Molecular Teratology
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Decreased Perifoveal Sensitivity Detected by Microperimetry in Patients Using Hydroxychloroquine and without Visual Field and Fundoscopic Anomalies

2015

Purpose. To evaluate the usefulness of microperimetry in the early detection of the ocular anomalies associated with the use of hydroxychloroquine.Methods. Prospective comparative case series study comprising 14 healthy eyes of 7 patients (group A) and 14 eyes of 7 patients under treatment with hydroxychloroquine for the treatment of rheumatologic diseases and without fundoscopic or perimetric anomalies (group B). A comprehensive ophthalmological examination including microperimetry (MP) and spectral-domain optical coherence tomography was performed in both groups.Results. No significant differences were found in mean MP foveal sensitivity between groupsP=0.18. However, mean MP overall sens…

medicine.medical_specialtyArticle Subjectbusiness.industryRetinal damageEarly detectionHydroxychloroquineEarly detectionFoveal sensitivityMicroperimetryVisual fieldOphthalmologylcsh:Ophthalmologylcsh:RE1-994OphthalmologyOptometryMedicineIn patientbusinessMicroperimetryResearch Articlemedicine.drugOcular anomaliesHydroxychloroquineÓptica
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