Search results for " Anomalies"

showing 10 items of 78 documents

Weyers acrodental dysostosis in a family.

1984

A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.

Postaxial polydactylyMaleDental anomaliesNail dysplasiaWeyers acrodental dysostosisbusiness.industryTooth AbnormalitiesDysostosisAnatomyToesmedicine.diseaseDysostosesPedigreeVariable ExpressionFingersDysplastic nailsGeneticsmedicineHumansAbnormalities MultipleFemalebusinessChildGenetics (clinical)Clinical genetics
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Ortodoncia interceptiva: Necesidad de diagnóstico y tratamiento temprano en las mordidas cruzadas transversales

2006

Las mordidas cruzadas corresponden a una maloclusión en el plano transversal del maxilar definiéndose como la alteración en la correcta articulación de las cúspides palatinas de molares y premolares superiores con las fosas de molares y premolares inferiores. Dada la frecuencia de alteraciones transversales que se presentan en la consulta de odontología general, vemos la necesidad de realizar un buen diagnostico diferencial de las mismas para poder adecuar nuestros tratamientos de la forma más eficaz y con los Resultados más estables posibles. Para ello se ha de diferenciar entre compresión esquelética, compresión dentoalveolar y compresión dental ya que estos tres supuestos requerirán trat…

Quad-HelixAnomalías transversalesbilateral crossbitestomatognathic systemunilateral crossbiteHaas expanderUNESCO::CIENCIAS MÉDICASTransverse anomaliesmordida cruzada bilateral:CIENCIAS MÉDICAS [UNESCO]Disyuntormordida cruzada unilateral
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Meristic character counts and incidence of skeletal anomalies in the wild Diplodus puntazzo (Cetti, 1777) of an area of the south-eastern Mediterrane…

2006

The sharpsnout seabream (Diplodus puntazzo, Cetti 1777) is a species rarely found in coastal areas of Sicily, but is important in Mediterranean aquaculture. In order to detect the number of meristic characters and the main types of body deformation, 588 specimens of sharpsnout seabream were collected from a coastal zone of south-east Sicily (Licata, AG—Italy). Different sized classes were examined and the relationship between size and the number of meristic characters (number of fin rays) was found. The number of vertebrae, anal fin hard rays and dorsal fin hard rays was constant and did not vary with size. Seventeen types of skeletal and fin anomalies were observed, but no grave anomalies …

Settore BIO/07 - EcologiaFinDiplodus puntazzoPhysiologySkeletal anomaliesFish finGeneral MedicineAnatomyAquatic ScienceBiologyBiochemistryMeristic characters - Skeletal anomalies - Sharpsnout seabreamDorsal finMediterranean seaSouth easternMeristicsFish Physiology and Biochemistry
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Radon Anomalies at Volcano Etna: Identification methods and correlation with geodynamic events

2006

Settore GEO/11 - Geofisica ApplicataRadon Anomalies Geodynamic events Volcano Etna
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Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

2013

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Settore MED/38 - Pediatria Generale E SpecialisticaComplex congenital anomalies diagnosis follow-upSettore MED/32 - Audiologia
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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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Does Hysteroscopic Dissection of Partial Uterine Septum Represent a Risk Factor for Placental Abnormalities in Subsequent Pregnancy Compared with Con…

2022

Background: Hysteroscopic septum dissection (HSD) is thought to improve fertility and pregnancy outcomes. However, the available literature suggests that uterine surgery can cause placental abnormalities in subsequent pregnancies. Methods: A case–control study was performed at the University Medical Center of Ljubljana, Department of Human Reproduction, from 1 January 2016 to 31 December 2018. The primary outcome was the association between HSD and the occurrence of placental abnormalities. We included women who underwent HSD due to infertility. Age-matched women who underwent hysteroscopic surgery for other issues were considered as controls. In addition, we divided the groups according to…

congenital uterine anomalies; uterine septum dissection; placental abnormalities; neonatal outcome; IVF/ICSI; hysteroscopy; complicationsComplicationsUterine septum dissectionIVF/ICSIGeneral MedicineCongenital uterine anomaliesHysteroscopyNeonatal outcomeSettore MED/40 - Ginecologia E OstetriciaPlacental abnormalities
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Isolated coronary anomalies and sudden death in the young

2011

coronary artery anomalies juvenile sudden death forensic pathologySettore MED/43 - Medicina Legale
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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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A cardiac fibroma in a 7-year-old asymptomatic girl admitted for ECG anomalies

2012

ecg anomaliesGynecologyasymptomatic girlmedicine.medical_specialtyPediatricsbusiness.industrymedia_common.quotation_subjectGeneral Medicinemedicine.diseaseAsymptomaticcardiac fibromaCardiac fibromamedicineGirlmedicine.symptomCardiology and Cardiovascular Medicinebusinessmedia_commonJournal of Cardiovascular Medicine
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