0000000001115981

AUTHOR

Maria Grazia Lacaita

showing 3 related works from this author

A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.

2007

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segment…

MaleHeterozygoteAdolescentDNA Mutational AnalysisCore Binding Factor Alpha 1 SubunitPolymerase Chain ReactionPedigreeAdolescent Chromosomes Human Pair 6 Cleidocranial Dysplasia/genetics* Cleidocranial Dysplasia/pathology Codon Nonsense/genetics* Core Binding Factor Alpha 1 Subunit/genetics* DNA Mutational Analysis DNA Primers/chemistry Female Gene Silencing Heterozygote Humans Male Pedigree Point Mutation* Polymerase Chain Reactioncleidocranial dysplasiaCodon NonsenseCBFA1/RUNX2HumansPoint MutationChromosomes Human Pair 6Femalegene mutationGene SilencingCleidocranial DysplasiaDNA Primers
researchProduct

Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report.

2018

Aims Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years. Methods and results A careful analysis of anamnestic data was performed. After extraoral and intraoral examination, cephalometric measurements and examination of mod…

medicine.medical_specialtyPalatal Expansion TechniqueCephalometryRadiographyTurner SyndromeMalocclusion Angle Class IIPremature ovarian insufficiencyShort statureoral pathology; orthodontics; rare disorders; Dentistry (all)Orthodontics CorrectiveCraniofacial Abnormalities03 medical and health sciences0302 clinical medicine030225 pediatricsOral and maxillofacial pathologyTurner syndromeMedicineHumansrare disordersChildGeneral DentistryOrthodonticsorthodonticbusiness.industryElectromyography030206 dentistrymedicine.diseaseTurner's syndromeCombined Modality TherapyOrthopedic surgeryMasticatory MusclesDentistry (all)Femalemedicine.symptomMalocclusionoral pathologyorthodonticsbusinessSpecial care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
researchProduct

Possible link between Hashimoto's thyroiditis and oral lichen planus: a novel association found

2013

Objectives: Hashimoto's thyroiditis as well as lichen planus has been associated to a number of disorders, generally of auto-immune origin. A novel possible association between oral lichen planus (OLP) and Hashimoto's thyroiditis (HT) is here proposed on the basis of a cross-sectional survey. Materials and methods: One hundred and five unrelated OLP patients were considered. Diagnosis of HT was based on positive serum anti-TPO, anti-Tg, TSH levels and the typical ultrasound pattern of the thyroid gland. Results: In the present survey, the prevalence of HT in the OLP group was 14. 3 % whereas the prevalence of HT-related hypothyroidism in the general population was reported to be equal to 1 …

Adultendocrine systemmedicine.medical_specialtyendocrine system diseasesPopulationThyrotropinAutoimmunityHashimoto Diseasemedicine.disease_causeAutoantigensIodide PeroxidaseGastroenterologyAsymptomaticThyroiditisAutoimmunityHashimoto's thyroiditistomatognathic systemSettore MED/28 - Malattie OdontostomatologicheIron-Binding ProteinsInternal medicinePrevalencemedicineHumansThyroid NoduleOral mucosaeducationGeneral DentistryAutoantibodieseducation.field_of_studybusiness.industryThyroidMiddle AgedCirculating thyroid antibodiesmedicine.diseaseAnti-thyroid autoantibodiesThyroxinestomatognathic diseasesCross-Sectional Studiesmedicine.anatomical_structureItalyOral lichen planuHashimoto's thyroiditis; Oral lichen planus; Autoimmunity; Circulating thyroid antibodiesTriiodothyronineFemaleOral lichen planusmedicine.symptombusinessLichen Planus OralClinical Oral Investigations
researchProduct