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Öğe A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.(Inst Investigacion Clinica, 2017) Callea, Michele; Willoughby, Cohn Eric; Camarata-Scalise, Francisco; Giovannoni, Isabelle; Vinciguerra, Agatino; Yavuz, Izzet; Di Stazio, MariateresaMarfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G > A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal -growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity.Öğe Cleidocranialdysplasia. Amolecularandclinicalreview(2018) Fortunato, Leonzio; Yavuz, İzzet; Plotino, Gianluca; Avendano, Andrea; Callea, Michele; Grande, Nicola Maria; Rizal, Mochamad FahleviCleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt-related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases,leaving a large number of cases with no defined genetic cause which ledus to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review,we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.Öğe Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia(Soc Argentina Pediatria, 2015) Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, FranciscoEctodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye disorders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C>T; p.T378M in EDA gene.Öğe Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia(Soc Argentina Pediatria, 2017) Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E.; Giglio, Sabrina R.; Sani, Ilaria; Bargiacchi, Sara; Traficante, GiovannaHypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.Öğe Ear nose throat manifestations in hypoidrotic ectodermal dysplasia(Elsevier Ireland Ltd, 2013) Callea, Michele; Teggi, Roberto; Yavuz, Izzet; Tadini, Gianluca; Priolo, Manuela; Crovella, Sergio; Clarich, GabriellaThe ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal-mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands. We report Ear Nose Throat manifestations of ED, linked to the reduction of mucous glands in the nasal fossae with reduced ciliar function, and decrease salivary glands function. Often patients report an increased rate of infections of the upper respiratory tract and of the ear. Nasal obstruction due to the presence of nasal crusting, hearing loss and throat hoarseness are the most represented symptoms. Environmental measures, including a correct air temperature and humidification, is mandatory above all in subjects affected by hypohidrotic form. (C) 2013 Elsevier Ireland Ltd. All rights reserved.Öğe Estudio clínico y molecular en una familia con displasia cleidocraneal(Sociedad Argentina de Pediatria, 2017) Callea, Michele; Fattori, Fabiana; Bertini, Enrico Silvio; Yavuz, İzzet; Bellacchio, Emanuele; Avendaño, AndreaCleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G>A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype.Öğe An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases(Medicina Oral S L, 2015) Dogan, Mehmet-Sinan; Callea, Michele; Yavuz, Izzet; Aksoy, Orhan; Clarich, Gabriella; Gunay, Ayse; Gunay, AhmetBackground: This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5-45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations determined, hypodontia or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, hypopigmentation, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study. Conclusions: Ectodermal dysplasia cases have a particular place in dentistry and require a professional, multi-disciplinary approach in respect of the chewing function, orthognathic problems, growth, oral and dental health. It has been understood that with data obtained from modern technologies such as three-dimensional dental tomography and the treatments applied, the quality of life of these cases can be improved.Öğe A new biological approach to guided bone and tissue regeneration(2013) Montanari, Marco; Callea, Michele; Yavuz, İzzet; Maglione, MicheleThe purpose of this study was to determine the potential of platelet-rich fibrin (PRF) membranes used for guided bone and tissue regeneration. A patient with insufficient alveolar ridge width in aesthetic zone was enrolled. The patient' s blood was centrifuged to obtain PRF membranes. Autogenous bone graft was mixed with bovine hydroxyapatite, PRF particles and applied to fill the defect. Five PRF membranes were placed over the bone mix. After 4 months a cone-beam CT was performed to evaluate bone regeneration. The use of PRF as cover membrane permitted a rapid epithelisation and represented an effective barrier versus epithelial cell penetration. After 4 months the site appeared precociously healed and the bone volume increased. This new approach represents a predictable method of augmenting deficient alveolar ridges. Guided bone regeneration with PRF showed limitation compared with guided bone regeneration using collagen membrane in terms of bone gain. The association of collagen membrane and PRF could be a good association.Öğe A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene(BMJ Publishing Group, 2012) Callea, Michele; Fattori, Fabiana; Yavuz, İzzet; Bertini, Enrico; 0000-0002-0683-1310The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8 years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype-genotype association.Öğe A Rare Case of Hutchinson-Gilford Progeria Syndrome with Early Dental Loss without Decay(Univ Indonesia, 2018) Pekdemir, Tugce N.; Ozturk, Duygu; Cetindag, Merve T.; Akleyn, Ebru; Sariyildiz, Cansu O.; Callea, Michele; Yavuz, IzzetHutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal recessive genetic disorder that occurs as a point mutation in the LMNA gene. It is a rare hereditary disorder, with approximately 100 cases reported in the medical literature. These patients and our case show features of aged appearance (pseudosenilism), loss of subcutaneous fat texture, growth retardation, sclerodermatous skin, 'horse riding posture', bird-face appearance, beaked nose, high pitched voice, protruding knees and elbows, underweight, short stature, malformation of the teeth, micrognathia, hypodontia, malocclusion, craniofacial disproportion, atherosclerosis and cardiovascular disorders. Unlike typical findings of HGPS, diffuse alopecia and prominent scalp veins were not observed in our case. Patients with HGPS have an average life span of 13 years, owing to myocardial infarction and congestive heart failure and our case also has atherosclerosis and heart failure. The study reported extra-and intraoral findings in a 24-year-old male patient with HGPS who came to our faculty with complaints about absence of teeth and psychological problems caused by absence of teeth and HGPS findings such as pseudosenilism, growth retardation and short stature. The data described necessary dental examinations and treatments for our patient and have reviewed the literature.
