RESUMO
AIMS: The aim of this study is to report the case of the orthodontic treatment in a patient affected by primary hyperoxaluria type 1 and subjected to a combinate liver-kidney transplant. METHODS AND RESULTS: The 9-year patient was admitted to our department for the presence of facial dysmorphism. The patient was affected by primary hyperoxaluria type 1 and has undergone a combined liver-kidney transplantation. At the time of the visit, he was in treatment with immunosuppressive drugs and received a corticosteroid and an antibiotic therapy monthly. An intraoral and extraoral examination, as well as radiographic and model analysis, was performed in order to define an accurate diagnosis and a proper rehabilitation planning. An orthopedic-orthodontic treatment was performed and satisfactory final results obtained. A laser gingivectomy was also realized for eliminate the gengival hyperplasia probably induced by cyclosporine assumption. Both skeletal and dental relationships were improved by the treatment, reaching a good dental arches alignment. CONCLUSION: An early diagnosis, as well as a multidisciplinary approach, is very important in patients with rare diseases. An appropriate treatment allowed us to achieve acceptable results and improve the patient quality of life.
Assuntos
Hiperoxalúria Primária/complicações , Doenças da Boca/etiologia , Doenças da Boca/terapia , Ortodontia Corretiva/métodos , Criança , Hiperplasia Gengival/induzido quimicamente , Hiperplasia Gengival/diagnóstico por imagem , Hiperplasia Gengival/cirurgia , Humanos , Hiperoxalúria Primária/cirurgia , Transplante de Rim , Transplante de Fígado , Masculino , Má Oclusão Classe III de Angle/diagnóstico por imagem , Má Oclusão Classe III de Angle/terapia , Doenças da Boca/diagnóstico por imagem , Radiografia PanorâmicaRESUMO
BACKGROUND: Odontomas are the most common benign odontogenic tumors (especially in children and adolescents) and consist of odontogenic ectomesenchyma and odontogenic epithelium with the formation of dental hard tissues. They are also simply considered hamartomas. The WHO Classification defines them as complex and compound odontomas. The diagnosis is often occasional, in conjunction with x-ray routine examinations, or it is suggested by eruption disorders or abnormal position of teeth in the dental arch. The mainstay therapy is surgical excision of the lesion followed by orthodontic treatment to take in the arch the impacted teeth. CASE REPORT: The aim of this work is the presentation of a case of mandibular bilateral compound odontoma in a young patient, and the confocal laser scanning microscopic analysis of the surgical specimens.
Assuntos
Neoplasias Mandibulares/patologia , Neoplasias Mandibulares/cirurgia , Microscopia Confocal , Odontoma/patologia , Odontoma/cirurgia , Criança , Humanos , Masculino , Neoplasias Mandibulares/diagnóstico , Odontoma/diagnóstico , Radiografia PanorâmicaRESUMO
AIM: Our objective was to investigate the occurrence of sleep-related breathing disturbances in a large cohort of school-aged children in Southern Italy, and to evaluate the association with anthropometric data and clinical findings of oropharynx and nasal airways. STUDY DESIGN: A two-phase cross-sectional study was conducted with children from schools in Turi, Italy. MATERIALS AND METHODS: A screening phase aimed to identify symptomatic children and clinical data from a cohort of 495 children by a self-administered questionnaire, and an instrumental phase for the definition of sleep-related disorders and clinical analysis of oral status were performed. According to the answers, children were classified into 3 groups: habitual snorers, occasional snorers, and non-snorers. All habitual snoring children underwent a polysomnographic home evaluation, and those with oxygen desaturation index (ODI) > 2 were considered for nocturnal polygraphic monitoring (NPM). Children with apnoea/ hypopnea index (AHI) > 3 received a diagnosis of obstructive sleep apnoea syndrome (OSAS). Moreover, a complete oral examination was performed. RESULTS: A total of 436 questionnaires (response rate: 88.08%) were returned and scored (202 M, 234 F; Mean age ± Standard deviation: 6.2 ± 1.8); 18 children (4%) were identified as habitual snorers, 140 children (32%) were identified as occasional snorers, and 278 children (64%) were identified as non-snorers. The percentage of female children who were habitual snorers was higher than the percentage of male children (4.7% vs 3.6%). Habitual snorers had significantly more nighttime symptoms. OSAS was diagnosed in 2 children by NPM. A statistically significant association between snoring, cross-bite, open-bite and increased over-jet was found. CONCLUSION: Habitual snoring and OSAS are significant problems for children and may be associated with diurnal symptoms. The presence of malocclusion increases the likelihood of sleep-related breathing disturbances.
Assuntos
Apneia Obstrutiva do Sono/epidemiologia , Ronco/epidemiologia , Obstrução das Vias Respiratórias/patologia , Bronquite/complicações , Criança , Pré-Escolar , Feminino , Humanos , Itália/epidemiologia , Masculino , Nariz/patologia , Mordida Aberta/complicações , Orofaringe/patologia , Otite/complicações , Sobremordida/complicações , Prevalência , Sinusite/complicações , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/patologia , Ronco/complicações , Ronco/patologia , Inquéritos e Questionários , Tonsilite/complicaçõesRESUMO
AIM: Despite several diagnostic and therapeutic advances, an increasing incidence of oral squamous cell carcinoma (OSCC) especially among young individuals has been observed in different parts of the world. Aim of this study was to delineate the profile of patients with OSCC in particular among young people. METHODS: Between 1977-2004, the medical records of 462 patients (mean age: 64.18 years, male-to-female ratio 2.1:1) with a diagnosis of OSCC were retrieved and successively analysed, with details of demographic data, staging, histological grading, treatment modality and risk factor profile. Overall, 43 (9.3%) patients were less of 45 years old, and among these, the male-to-female ratio was 2.9:1 with the median age of 38 years. Most patients had stage II (37.5%) or III (29.2) disease, only 9.7% of the patients had stage IV. The most common histological gradings were well or moderately differentiated (98,5%). The most common involved site was the tongue (40.1%). A large number of patients (45.4%) received treatment with either surgery alone or a combination of surgery and other adjuvant therapy (45.9%). RESULTS: Collectively, these data indicate that OSCC remains a constant worldwide health problem. In addition, the occurrence of OSCC in young people is relatively high. Traditional risk habits including smoking and alcohol consumption remain the most important factors in the development of OSCC. CONCLUSION: Therefore, our data suggested that the OSCC prevention with early detection, early treatment intervention, and withdrawal from risk habits must be devised and advised also for patients in southern Italy.
Assuntos
Carcinoma de Células Escamosas/epidemiologia , Neoplasias Bucais/epidemiologia , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
We report the clinical, radiographic and histological features of 15 paradental cysts of the first and second molars and recommend conservative surgical treatment. Twelve young patients were operated on for 15 paradental cysts of the first and second molars, and had conservative operations with partial preservation of the mandibular cortical bone. After 2 years there had been no recurrences. The differential diagnosis of paradental cyst was fundamental to allow the correct treatment and the early diagnosis of lesions on the opposite side. The maintenance of periodontal hygiene in the immediate and late postoperative periods was an aid to ensure complete remission of the lesions.
Assuntos
Infecções Bacterianas/patologia , Cisto Periodontal/patologia , Infecções Bacterianas/cirurgia , Criança , Feminino , Humanos , Masculino , Doenças Mandibulares/patologia , Doenças Mandibulares/cirurgia , Dente Molar/patologia , Cisto Periodontal/cirurgia , Dente não Erupcionado/patologiaRESUMO
Though rare, Gardner's syndrome is a systemic disease with frequent jawbones involvement. Dento-maxillo-facial lesions both in early and in advanced stages should be known by dentists and other specialists. In fact, these lesions should be sought in patients with intestinal polyposis, while they could be the first sign of Gardner's syndrome not yet diagnosed.
Assuntos
Síndrome de Gardner/diagnóstico , Neoplasias Mandibulares/genética , Neoplasias Primárias Múltiplas/genética , Osteoma/genética , Adenoma/genética , Adulto , Neoplasias do Colo/genética , Síndrome de Gardner/genética , Humanos , Masculino , Neoplasias Mandibulares/cirurgia , Neoplasias Primárias Múltiplas/cirurgia , Osteoma/cirurgiaRESUMO
OBJECTIVE: Malignant epithelial tumours arising in the jaws are very rare. Adenoid cystic carcinoma (ACC) represents approximately 7.5% of all carcinomas and only a few cases of intraosseous (central) ACC have been reported in the literature. MATERIALS: The salient clinico-pathological features of a case of ACC, bilaterally occurring in the mandible of a young caucasian woman who also had lung metastases are reported to appropriately characterize such unusual lesions and discriminate them from other tumours that more commonly affect the mandible. RESULTS: The patient presented with a painful swelling of the right retro-molar area and paraesthesia of the ipsilateral lower lip and radiological investigations disclosed bilateral radiolucent lesions of the mandible with unequivocal signs of malignancy but without intra-lesional calcifications or association with teeth roots or cystic component. Conventional histological examination disclosed typical ACC with solid and cribriform growth patterns and extensive infiltration of the adjacent tissues. CONCLUSIONS: The diagnosis of intraosseous malignant salivary gland type neoplasms is very difficult in view of their rarity and lack of specific signs and mainly achieved after histological examination and complete clinico-radiological work up. As surgical treatment of the patient was not indicated, due to extensive neoplastic disease, the patient is being controlled with multimodal treatment, including chemo- and radiotherapy and is alive with persistent disease 3 years after the original diagnosis.
Assuntos
Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/secundário , Neoplasias Pulmonares/secundário , Neoplasias Mandibulares/patologia , Neoplasias das Glândulas Salivares/patologia , Glândulas Salivares Menores/patologia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma Adenoide Cístico/tratamento farmacológico , Carcinoma Adenoide Cístico/radioterapia , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/radioterapia , Neoplasias Mandibulares/tratamento farmacológico , Neoplasias Mandibulares/radioterapia , Invasividade Neoplásica , Neoplasias das Glândulas Salivares/tratamento farmacológico , Neoplasias das Glândulas Salivares/radioterapiaRESUMO
Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.
Assuntos
Síndrome do Nevo Basocelular/genética , Códon sem Sentido , Mutação da Fase de Leitura , Mutação de Sentido Incorreto , Mutação Puntual , Sítios de Splice de RNA/genética , Receptores de Superfície Celular/genética , Adolescente , Adulto , Sequência de Aminoácidos , Criança , Sequência Consenso , Análise Mutacional de DNA , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Receptores Patched , Receptor Patched-1 , Fenótipo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Alinhamento de Sequência , Homologia de Sequência de AminoácidosRESUMO
OBJECTIVE: Bilateral and multiple lymphoepithelial cysts (LECs) of major salivary glands, in particular of parotid glands, are quite rare and have been reported in human immunodeficiency virus (HIV) infected patients with an incidence of about 3-6%. These lesions represent an early manifestation of HIV infection and are rarely found in patients with advanced acquired immunodeficiency syndrome. MATERIALS: Two cases of parotid LECs, the first occurring in a middle-age white woman and the second in a young white boy, both in advanced phases of HIV infection, are reported. RESULTS: Clinical, cytological, histological and immunohistochemical (cytokeratin AE1/AE3, CD20, CD45RA, CD8, kappa and lambda immunoglobulin light chains, S-100, MLA and Ki67) features are described. CONCLUSIONS: Fine needle aspiration (FNA), a relatively non-traumatic procedure, could represent both a diagnostic and a therapeutic tool in parotid LECs. No surgical therapy is usually required for these lesions and aspiration of cystic fluid with FNA is quite resolutive, although evidence of further relapses does exist. Surgical excision may become necessary when pain, because of persistent and progressive swelling of the parotid gland, occurs.
Assuntos
Cistos/patologia , Infecções por HIV/complicações , Doenças Parotídeas/patologia , Adolescente , Linfócitos B/patologia , Biópsia por Agulha , Linfócitos T CD8-Positivos/patologia , Líquido Cístico/química , Células Epiteliais/patologia , Feminino , Humanos , Queratinas/análise , Antígeno Ki-67/análise , Linfócitos/patologia , Masculino , Pessoa de Meia-Idade , Proteínas S100/análiseRESUMO
Anatomo-clinical data of 35 cases of maxillofacial tuberculosis are reported; the different clinical presentations of primary and secondary forms (ulcers are the most common clinical feature) and of rare form (lupus) are described and the problems concerning differential diagnosis and therapy are discussed. In the author's experience the microinvasive cytohistologic techniques (FNAB) with elective histochemical stains have been founded very usefully. The role of the stomatologist in the early diagnosis of this still-diffuse and misleading pathology is also underlined.
Assuntos
Doenças da Boca/diagnóstico , Tuberculose Cutânea/diagnóstico , Tuberculose Bucal/diagnóstico , Tuberculose/diagnóstico , Adolescente , Adulto , Idoso , Antituberculosos/uso terapêutico , Criança , Quimioterapia Combinada , Face , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças da Boca/tratamento farmacológico , Doenças da Boca/patologia , Tuberculose Cutânea/tratamento farmacológico , Tuberculose Cutânea/patologia , Tuberculose Bucal/tratamento farmacológico , Tuberculose Bucal/patologiaRESUMO
The US results are reported of 38 patients affected with sialolithiasis of the major salivary glands (37 cases of submandibular and 1 of parotid location). Sonography allowed all intraparenchymal calculi to be detected, as well as 59% of intraductal calculi. Associated US pathological features were: gland swelling in 36 cases (94%); ductal ectasia in 14 cases (61%); irregular echo structural arrangement of glandular parenchyma in 3 patients with multiple stones. US can be considered an useful diagnostic tool in sialolithiasis, for it allows the alterations in glandular structure in the late stages to be evaluated. Moreover, it may be repeated as often as necessary in the cases with multiple and/or recurrent stones.
Assuntos
Cálculos das Glândulas Salivares/diagnóstico , Ultrassonografia , Adolescente , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Glândula Parótida/patologia , Cálculos dos Ductos Salivares/diagnóstico , Glândula Submandibular/patologiaRESUMO
After a brief analysis of the anatomoclinical aspects of chondrosarcoma in general and of the characteristic and particular aspects of the forms with maxillofacial onset (lower age of onset, elective sites of onset anterior in the maxillary and posterior in the mandible, often insignificant standard X-ray pictures, high percentage of error in clinical and histological diagnosis) two cases of peripheral periodontal onset, with low degree of malignity (grade 1), with aspecific clinical and radiological aspects, both locally recurrent several times after nonradical surgery are reported.
Assuntos
Condrossarcoma/diagnóstico por imagem , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Maxilares/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Doenças Periodontais/diagnóstico por imagem , Neoplasias de Tecidos Moles/diagnóstico por imagem , Adulto , Condrossarcoma/patologia , Condrossarcoma/terapia , Terapia Combinada , Erros de Diagnóstico , Feminino , Humanos , Masculino , Neoplasias Mandibulares/patologia , Neoplasias Mandibulares/terapia , Neoplasias Maxilares/patologia , Neoplasias Maxilares/terapia , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/terapia , Doenças Periodontais/patologia , Doenças Periodontais/terapia , Radiografia , Neoplasias de Tecidos Moles/patologia , Neoplasias de Tecidos Moles/terapiaRESUMO
After reviewing the successive phases of lithogenesis, from dyschylia to outright calculosis, the clinico-epidemiological data on 400 cases of salivary calculosis with incidence according to location (94% submandibular, with 72% intraductal calculi), sex (70% male), age (86% between the second and fifth decades), concomitant pathologies (diabetes mellitus in 25% of cases, arterial hypertension in 20% of cases, chronic hepatopathies in 10% of cases) are presented. The morphological and microstructural aspects of the calculi, observed in polarised light under the optical microscope are reported. The scanty quantity of inorganic tissue contained and the presence of multiple and multidirectional growth nuclei in every calculus examined are pointed out.