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2.
Biomed Res Int ; 2018: 2059464, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30228982

RESUMO

INTRODUCTION: Orofacial clefts are congenital malformations characterized by an incomplete shaping of structures that separate the nasal from the oral cavity and can affect the right, left, or both sides. The aim of the present study is to assess, with clinical, radiographical, and histological evaluations, the efficacy of piezoelectric devices compared to traditional rotating instruments in the bone harvesting in patients with history of cleft. MATERIALS AND METHODS: We have conducted a retrospective analysis on 20 patients with a history of orofacial clefts that were operated on from February 2014 to June 2017. The patients were divided into two groups: Group R in which bone graft was harvested using a burr and Group P in which the bone graft was obtained by a piezoelectric device. After a healing period of 8 months from the grafting procedure, clinical and radiographic evaluations were performed. RESULTS AND DISCUSSION: The use of the piezoelectric devices in bone harvesting allows a slight improvement in the final volume. This supports a faster integration into the receiving site. CONCLUSIONS: The use of piezoelectric device in patients with history of orofacial cleft that needed bone graft represents a method to be taken into consideration because it has interesting advantages.


Assuntos
Transplante Ósseo/instrumentação , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Adolescente , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Adulto Jovem
3.
Eur J Paediatr Dent ; 17(3): 243-247, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27759416

RESUMO

AIM: This review aims to summarise our understanding of the destructive role of acid environment and metalloproteinases in dentin caries progression using a review process. METHOD: The acids resulting from consumption of sugars by acidogenic and aciduric bacteria can cause demineralisation of the tooth surface, but are not able to cause caries-like lesions. The appearance of such lesions requires the activation of enzymatic proteolysis in an acidic environment for degradation of the dentin organic matrix, leading to cavity formation. Bacterial collagenases have long been considered responsible for organic matrix destruction; host cell-derived matrix metalloproteinases (MMPs) have recently been considered to be involved in the dentinal matrix destruction of carious lesions. DISCUSSION AND CONCLUSION: MMPs are initially synthesised as inactive zymogens to be activated in acid environment of dentinal fluid during the carious process, resulting in destruction of the collagenous matrix. The role of acid environment on enamel and dentin demineralisation and the role of salivary and dentinal MMPs in dentin progression of caries has encouraged general dentists to include the monitoring of oral environment not only by control of bacterial oral flora in caries treatment protocol, but mainly by inhibition of dentinal and salivary MMPs through the use of toothpaste and/or mouthwash containing specific active agents.


Assuntos
Cárie Dentária/enzimologia , Dentina/enzimologia , Metaloproteinases da Matriz/fisiologia , Ácidos , Bactérias/enzimologia , Colagenases/fisiologia , Cárie Dentária/fisiopatologia , Progressão da Doença , Ativação Enzimática , Humanos , Inibidores de Metaloproteinases de Matriz/uso terapêutico
4.
Eur J Paediatr Dent ; 16(3): 229-32, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26418927

RESUMO

AIM: To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. MATERIALS AND METHODS: A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. RESULTS: There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. CONCLUSION: High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.


Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Anormalidades Dentárias/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Prevalência , Anormalidades Dentárias/complicações , Adulto Jovem
5.
Eur J Paediatr Dent ; 15(3): 293-6, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25306147

RESUMO

AIM: In this study, resonance and articulation disorders were examined in a group of patients surgically treated for cleft lip and palate, considering family social background, and children's ability of self monitoring their speech output while speaking. MATERIALS AND METHODS: Fifty children (32 males and 18 females) mean age 6.5 ± 1.6 years, affected by non-syndromic complete unilateral cleft of the lip and palate underwent the same surgical protocol. The speech level was evaluated using the Accordi's speech assessment protocol that focuses on intelligibility, nasality, nasal air escape, pharyngeal friction, and glottal stop. Pearson product-moment correlation analysis was used to detect significant associations between analysed parameters. RESULTS: A total of 16% (8 children) of the sample had severe to moderate degree of nasality and nasal air escape, presence of pharyngeal friction and glottal stop, which obviously compromise speech intelligibility. Ten children (10%) showed a barely acceptable phonological outcome: nasality and nasal air escape were mild to moderate, but the intelligibility remained poor. Thirty-two children (64%) had normal speech. Statistical analysis revealed a significant correlation between the severity of nasal resonance and nasal air escape (p ≤ 0.05). No statistical significant correlation was found between the final intelligibility and the patient social background, neither between the final intelligibility nor the age of the patients. CONCLUSION: The differences in speech outcome could be explained with a specific, subjective, and inborn ability, different for each child, in self-monitoring their speech output.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Fala/fisiologia , Transtornos da Articulação/classificação , Criança , Linguagem Infantil , Pré-Escolar , Músculos Faciais/fisiologia , Feminino , Humanos , Masculino , Faringe/fisiologia , Fonética , Procedimentos de Cirurgia Plástica/métodos , Respiração , Distúrbios da Fala/classificação , Inteligibilidade da Fala/fisiologia , Resultado do Tratamento , Distúrbios da Voz/classificação
6.
Anticancer Res ; 31(12): 4211-8, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22199283

RESUMO

BACKGROUND: N-Cadherin (CDH2) is a calcium-dependent adhesion protein, whose de novo expression, re-expression, up-regulation and down-regulation in human tumors has been demonstrated. The aim of the present work was to define the prognostic role of N-Cadherin in a large series of oral squamous cell carcinomas (OSCCs). MATERIALS AND METHODS: A total of 94 selected OSCCs were quantitatively and qualitatively analyzed by immunohistochemistry for N-Cadherin. The association between protein expression and clinico-pathological parameters was assessed by statistical analysis. RESULTS: In neoplastic tissue, N-Cadherin levels were more evident than in normal peritumoral epithelium (p<0.05). Protein staining was mainly detected in the neoplastic cells, and only focal nuclear positivity was observed. Expression of cytoplasmic N-Cadherin correlated significantly with poor histological differentiation (p<0.05). Furthermore, we have observed significant a statistical trend for stage and a correlation with worst patient outcome, also confirmed by Kaplan-Meier estimates. CONCLUSION: Our work has underlined the key-role of N-Cadherin in oral carcinogenesis and in the prognostic stratification of patients.


Assuntos
Caderinas/biossíntese , Carcinoma de Células Escamosas/metabolismo , Regulação Neoplásica da Expressão Gênica , Neoplasias Bucais/metabolismo , Adulto , Idoso , Carcinoma de Células Escamosas/diagnóstico , Progressão da Doença , Intervalo Livre de Doença , Feminino , Humanos , Imuno-Histoquímica/métodos , Masculino , Oncologia/métodos , Pessoa de Meia-Idade , Neoplasias Bucais/diagnóstico , Prognóstico
7.
Eur J Paediatr Dent ; 12(4): 261-6, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22185253

RESUMO

AIM: To evaluate the dentoskeletal effects produced by Fränkel-2 (FR-2) appliance during the treatment of patients with Class II malocclusion by mandibular retrusion and to verify the long-term stability of these changes. MATERIALS AND METHODS: Pre-treatment, post-treatment and long-term serial cephalograms (at least 10 years after the end of treatment) of patients treated with FR-2 were compared with data obtained from untreated controls. To be included in the study, patients and controls had to exhibit Class II malocclusion caused by short mandibular body. Lateral cephalograms were analysed with a specific tracing regimen in both groups. Summary measures for the initial cephalometric values and increments of changes between visits were calculated. RESULTS: Compared to controls, the FR-2 treatment produced a significant decrease in the ANB angle that improved the skeletal intermaxillary and occlusal relationship. At long-term follow- up, the FR-2 group showed further improvements of skeletal intermaxillary and occlusal relationship, therefore the changes observed during treatment showed no compensatory decline or rebound. CONCLUSION: FR-2 treatment, in conjunction with a period of post-functional fixed appliance therapy designed to perfect the occlusion, can produce a long-lasting improvement of the skeletal Class II malocclusions with little skeletal correction and significant incisor compensation.


Assuntos
Má Oclusão Classe II de Angle/terapia , Aparelhos Ortodônticos Funcionais , Ortodontia Interceptora/instrumentação , Cefalometria , Criança , Feminino , Humanos , Masculino , Prevenção Secundária
8.
J Cell Physiol ; 226(11): 2997-3003, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21302296

RESUMO

Steroid hormones are expressed at low levels in mesenchymal cells and are highly expressed in soft tissue sarcoma. In human soft tissue fibrosarcoma cell line (HT-1080), the epidermal growth factor (EGF) stimulates the express of matrix metal (MMPs) expression through a Src-dependent mechanism. In human fibrosarcomas, increased expression of MMPs correlates with the metastatic progression. Our recent data in human breast cancer cell line MCF-7, demonstrates that EGF stimulates estradiol receptor (ER) phosphorylation on tyrosine at position 537 thereby promoting the association of a complex among EGF receptor (EGFR), androgen receptor (AR), ER, and Src that activates EGF-dependent signaling pathway. In the present study, we demonstrate that, in HT-1080 cells, the Src kinase activity is involved in EGFR phosphorylation and this activity is regulated by an interplay between Src, steroid receptors, and EGFR. In these cells, estradiol (E(2) )/ER and synthetic androgen (R1881)/AR trans-activate EGFR leading to the downstream signaling and to ERK activation. Indeed, the association between ER/AR and EGFR enhances metastatic progression of fibrosarcoma tumors. A population pilot study performed on 16 patients with soft tissue neoplasias highlights that MMPs expression correlates with progression of anaplastic sarcoma as well as overexpression of EGFR. These findings suggest that there is a crosstalk among AR, ER, and EGFR that lead to src activation also in fibrosarcoma cells.


Assuntos
Receptores de Esteroides/metabolismo , Sarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Quinases da Família src/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Linhagem Celular Tumoral , Criança , Pré-Escolar , Progressão da Doença , Receptores ErbB/metabolismo , Estradiol/farmacologia , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Feminino , Humanos , Masculino , Metribolona/farmacologia , Pessoa de Meia-Idade , Projetos Piloto , Transdução de Sinais , Adulto Jovem
9.
J Dairy Sci ; 93(5): 2161-7, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20412931

RESUMO

Studies on milk proteins revealed that a qualitative and quantitative polymorphism may often be found regarding alpha-lactalbumin (alpha-LA). In mammals, a similar phenomenon was widely documented in the alpha-globin system as the result of a gene duplication. The presence of several differently expressed alpha-lactalbumin gene (LALBA) products suggests that the mechanism underlying this phenomenon may involve nonallelic genes. To check this hypothesis, an experiment was set up to investigate the LALBA gene arrangement of a water buffalo exhibiting an alpha-LA phenotype characterized by a double-band pattern on PAGE isoelectric, focusing analysis of milk protein. In particular, the relative amount of protein inferred from the different intensity of the bands was consistent with a gene duplication. Thus, leukocyte DNA was extracted from a blood sample of the buffalo and amplified with 4 primers (2 RV-IVFW for PCR and 4 FW-IRV for nested PCR). The intergenic segments of the assumed duplicated gene were then amplified with 2 different PCR protocols. First, the segment limited by the third exon in the upstream gene and the second exon in the downstream gene was amplified by simple PCR, which gave aspecific results. Second, this PCR product was subjected to nested PCR, amplifying the segment limited by the fourth exon in the upstream gene and the first exon in the downstream gene, yielding an amplified nucleotide fragment of about 6,200 bp. Blood samples from an additional 15 buffalos were then analyzed in the same manner. The results obtained from the new samples confirmed the presence of an amplified nucleotide fragment of about 6,200 bp in most of them, though they all were characterized by an alpha-LA monomorphic phenotype. A couple of 6,200-bp fragments obtained were purified, cloned in pGEM-T easy vector system (Promega, Madison, WI) and sequenced. The sequence of the large DNA segments, containing the intergenic portion, was aligned with the LALBA gene (accession number AF194373; http://www.ncbi.nlm.nih.gov/Database/index.html). They both were found to coincide with the portion containing exon 4 and the untranslated region at the 3' end of the upstream gene and with the portion containing exon 1 and the untranslated region at the 5' end of the downstream gene. These results confirm the hypothesis that a tandemly repeated copy of the LALBA gene is present in water buffalo.


Assuntos
Búfalos/genética , Duplicação Gênica , Lactalbumina/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Dados de Sequência Molecular , Alinhamento de Sequência
10.
Int J Pediatr Otorhinolaryngol ; 73(5): 641-4, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19181392

RESUMO

OBJECTIVE: Speech disorders could affect the intelligibility, but also social competence and emotional development of a cleft-palate child. In this study, we proposed to examine the phono-articulatory defects of a group of surgically treated cleft palate patients, relatively to the familial social background, and children ability of self-controlling during spontaneous language. METHODS: Sixty-eight children (22 males and 46 females) mean age 6.87 years, affected by a non-syndromic isolated cleft of the palate underwent to the same surgical protocol. Linguistic level was evaluated using the speech assessment protocol of Accordi and colleagues that focuses on intelligibility, nasality, nasal air escape, pharyngeal friction, and glottal stop. Each of these parameters is evaluated on a four-point scale, ranging from 0 to 3. Spearman rank order correlation was used to detect significant association between analyzed parameters; also the patient social background was considered for statistical analysis. RESULTS: The 5.88% of the sample had a negative result, with a severe to moderate degree of nasality and nasal air escape, presence of pharyngeal friction and glottal stop and, obviously a systematic compromising of the intelligibility. Also grimace was evident. The 38.23% of the sample showed an acceptable phonological outline; nasality and nasal air escape were mild, and the intelligibility resulted normal. Thirty-eight children (55.88%) showed a perfectly normal speech. Statistical analysis (Spearman rank order correlation) revealed a positive correlation between the severity of nasality and nasal air escape and the patient social contest of life (p

Assuntos
Fissura Palatina/epidemiologia , Fissura Palatina/cirurgia , Disfonia/diagnóstico , Disfonia/epidemiologia , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/epidemiologia , Criança , Feminino , Humanos , Masculino , Fonética , Cuidados Pós-Operatórios , Cuidados Pré-Operatórios , Índice de Gravidade de Doença , Distúrbios da Fala/terapia , Fonoterapia
11.
J Eur Acad Dermatol Venereol ; 22(6): 681-91, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18331319

RESUMO

BACKGROUND: Adverse drug reactions are noxious and unintended responses to a medicinal product. Many drugs have the potential to induce adverse reactions in the mouth. The extent of such reactions is unknown; however, because a lot of them are asymptomatic, many are believed to go unnoticed. Adverse oral drug reactions are responsible for oral lesions and manifestations that can mime local or systemic disease. Their pathogenesis, especially of the mucosal reactions, is largely unknown and appears to involve complex interactions between the drug in question, other medications, the patient's underlying disease, genetics and lifestyle factors. AIM: In this study, we have listed the principal signs and symptoms of oral and perioral adverse drug reactions and the responsible drugs. Diagnosis for adverse drug reaction is not easy given also the limited utility of laboratory tests. The association between a drug and an adverse drug reaction is mostly based on the disappearance of the reactions following discontinuance of the offending drug. Sometimes, it is useful to perform rechallenge tests reintroducing the drug to establish cause and effect. CONCLUSIONS: Knowledge of adverse drug-induced oral effects helps health professionals to better diagnose oral disease, administer drugs and improve patient compliance during drug therapy and may foster a more rational use of drugs.


Assuntos
Sistemas de Notificação de Reações Adversas a Medicamentos , Doenças da Boca/induzido quimicamente , Acatisia Induzida por Medicamentos , Relação Dose-Resposta a Droga , Vias de Administração de Medicamentos , Eritema Multiforme/induzido quimicamente , Humanos , Doenças Maxilomandibulares/induzido quimicamente , Osteonecrose/induzido quimicamente , Farmacocinética , Farmacologia
12.
Int J Immunopathol Pharmacol ; 21(4): 921-8, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19144277

RESUMO

Acetylsalicylic acid (ASA) and other non-steroidal anti-inflammatory drugs have been shown to potentially inhibit bone healing and bone formation in both animal and clinical studies. Due to the extensive diffusion of ASA-based long-term therapies, the implications of such a side-effect are of interest in all types of bone surgery, including bone grafting procedures and dental implant placement. In this study, we investigate the effect of ASA at therapeutic concentrations on the proliferation and osteogenic differentiation of human bone marrow stromal cells (BMSCs). Primary cultures of BMSCs were isolated and expanded. Their proliferation in response to ASA 50, 100 and 200 microg/ml was evaluated by MTT assay and 3H-thymidine incorporation. Cell cycle machinery was also investigated by FACS and analysis of inhibitors of cyclin-dependent kinases (CDKIs). ASA inhibited BMSC proliferation and DNA synthesis in a dose-dependent manner down to 60% of control (ASA 200 mcg/ml) at 72 h. Cell cycle analysis showed a decrease of BMSCs in the S and G2/M phases with a concomitant accumulation in G0/1 in ASA treated cells. The finding was associated to increased levels of some CDKIs, namely p27(Kip1) and p21(Cip1), whereas ASA did not affected p16(Ink4A) level at any of the concentrations employed. The matrix mineralization, that represents the major feature of the osteogenic commitment, was assessed by a specific staining procedure (von Kossa) and by calcium content determination. Both the methods demonstrated an extensive reduction (greater than 90 percent) of extracellular calcification at 200 microg/ml ASA. On the basis of our results, we can hypothesize that the widely reported inhibition of bone healing by ASA might be sustained both by a direct anti-proliferative effect on BMSCs and by an alteration of the extracellular calcification.


Assuntos
Aspirina/farmacologia , Células da Medula Óssea/efeitos dos fármacos , Calcificação Fisiológica/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Células Estromais/efeitos dos fármacos , Células da Medula Óssea/citologia , Ciclo Celular/efeitos dos fármacos , Replicação do DNA/efeitos dos fármacos , Matriz Extracelular/efeitos dos fármacos , Feminino , Humanos , Masculino , Células Estromais/citologia
13.
Anim Genet ; 38(3): 233-40, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17433010

RESUMO

Presented herein is an updated sheep cytogenetic map that contains 452 loci (291 type I and 161 type II) assigned to specific chromosome bands or regions on standard R-banded ideograms. This map, which significantly extends our knowledge of the physical organization of the ovine genome, includes new assignments for 88 autosomal loci, including 74 type I loci (known genes) and 14 type II loci (SSRs/microsatellite marker/STSs), by FISH-mapping and R-banding. Comparison of the ovine map to the cattle and goat cytogenetic maps showed that common loci were located within homologous chromosomes and chromosome bands, confirming the high level of conservation of autosomes among ruminant species. Eleven loci that were FISH-mapped in sheep (B3GAT2, ASCC3, RARSL, BRD2, POLR1C, PPP2R5D, TNRC5, BAT2, BAT4, CDC5L and OLA-DRA) are unassigned in cattle and goat. Eleven other loci (D3S32, D1S86, BMS2621, SFXN5, D5S3, D5S68, CSKB1, D7S49, D9S15, D9S55 and D29S35) were assigned to specific ovine chromosome (OAR) bands but have only been assigned to chromosomes in cattle and goat.


Assuntos
Mapeamento Cromossômico , Genes/genética , Sequências Repetitivas de Ácido Nucleico/genética , Ovinos/genética , Animais , Bandeamento Cromossômico , Hibridização in Situ Fluorescente , Especificidade da Espécie
14.
Minerva Stomatol ; 56(1-2): 63-71, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17287708

RESUMO

Bone grafting of the alveolus has become an essential part of the contemporary surgical management of oral clefts. The benefits of this procedure are the stabilization of the maxillary arch, elimination of oronasal fistulae, the reconstruction of the soft tissue nasal base support, creation of bony support for subsequent tooth eruption or, when they are not present or not preserved, for implants application. The authors show a case of bone grafting with the aid of platelet-rich plasma (PRP). Because of the difficulties due to the oral cleft and to its surgical reparation (big size of bone defect, hard scars and sclerotic soft tissue) the authors decided to add PRP to a bone graft taken from the chin. PRP contains a high concentration of growth factors and is able to stimulate both wound and bone regeneration. Infact, the authors have observed very good results both in bone integration and in soft tissue reparation.


Assuntos
Alveoloplastia , Mandíbula/transplante , Plasma Rico em Plaquetas , Alvéolo Dental/cirurgia , Transplante Autólogo/métodos , Adolescente , Anodontia/reabilitação , Fenda Labial/reabilitação , Fenda Labial/cirurgia , Fissura Palatina/reabilitação , Fissura Palatina/cirurgia , Feminino , Géis , Humanos , Incisivo , Retalhos Cirúrgicos , Trombina/uso terapêutico , Alvéolo Dental/anormalidades
15.
Minerva Stomatol ; 55(9): 483-92, 2006 Sep.
Artigo em Inglês, Italiano | MEDLINE | ID: mdl-17146427

RESUMO

AIM: Pleomorphic adenomas of salivary glands are benign lesions which may sometimes relapse even after complete surgical removal. This risk has led to the search for methods to provide predictive data on the biological behaviour of such neoplasia. The authors intend to evaluate the degree of cellular aggression of these tumours by finding prognostic data using the antigens involved in cellular proliferative activity. Therefore they have chosen for this study: p27kip1, cyclin B1 and Cyclin D3. METHODS: Seventeen mixed tumours, 2 of them relapsed, underwent the direct immunohystochemical PAP technique for the determination of antigens p27kip1, cyclins B1 and D3 of the tissue. RESULTS: The results obtained show that the verification of these markers may reveal a potential risk of biological deviation and that their expression is independent of the degree of cellularity in neoplasias. CONCLUSIONS: On the basis of the results, the conclusion is drawn that there is no relation between the expressivity of the mentioned antigens and histological characters of pleomorphic adenomas.


Assuntos
Adenoma Pleomorfo/química , Biomarcadores Tumorais/análise , Ciclina B/análise , Inibidor de Quinase Dependente de Ciclina p27/análise , Ciclinas/análise , Neoplasias das Glândulas Salivares/química , Adenoma Pleomorfo/patologia , Adolescente , Adulto , Idoso , Biomarcadores Tumorais/imunologia , Ciclina B/imunologia , Ciclina B1 , Ciclina D3 , Inibidor de Quinase Dependente de Ciclina p27/imunologia , Ciclinas/imunologia , Humanos , Imuno-Histoquímica/métodos , Pessoa de Meia-Idade , Prognóstico , Neoplasias das Glândulas Salivares/patologia
16.
J Anim Breed Genet ; 123(2): 122-30, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16533366

RESUMO

The relationship between haemoglobin polymorphism and haematological pattern were studied in Gentile di Puglia, the Apulia Merino native breed. In a sample of 292 individuals, on five different farms, alpha- and beta-globin genetic polymorphism was investigated. A remarkable polymorphism was detected especially at alpha-globin gene where the variations concerned both the quality of the gene product and gene expression. Triplicated and quadruplicated alpha-globin genes were observed in 8.6% and 1.2% of the alpha-haplotypes respectively. At beta-globin (HBB) locus, predominance of HBB(B) allele was found in all flocks, while HBB(A) overall frequency was around 11.2%. Moreover, the effect of genotypes at globin systems on haematological data was evaluated on 289 animals. A significant effect was detected for HBB locus on haematocrit (HCT) and mean corpuscular volume (MCV), with decreasing HCT and MCV for decreasing number of HBB(A) alleles in the genotype. The opposite trend was observed for mean corpuscular haemoglobin concentration. The advances presented by this paper give reasons for inferring that BB genotypes can be expected to be more resilient to climatic stress and to local parasites.


Assuntos
Hemoglobinas/genética , Polimorfismo Genético , Ovinos/sangue , Ovinos/genética , Alelos , Animais , Predisposição Genética para Doença , Haplótipos , Doenças Parasitárias em Animais/genética , Ovinos/classificação , Doenças dos Ovinos/genética , Doenças dos Ovinos/parasitologia
17.
Cytogenet Genome Res ; 112(1-2): 103-5, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16276097

RESUMO

Four bovine BAC clones (0494F01, 0069D07, 0060B06, and 0306A12) containing MUC1, as confirmed by mapping MUC1 on a RH3000 radiation hybrid panel, were hybridised on R-banded chromosomes of cattle (BTA), river buffalo (BBU), sheep (OAR) and goat (CHI). MUC1 was FISH-mapped on BTA3q13, BBU6q13, OAR1p13 and CHI3q13 and both chromosomes and chromosome bands were homoeologous confirming the high degree of chromosome homoeologies among bovids and adding more information on the pericentromeric regions of these species' chromosomes. Indeed, MUC1 was more precisely assigned to BTA3 and assigned for the first time to BBU6, OAR1p and CHI3. Moreover, detailed and improved cytogenetic maps of BTA3, CHI3, OAR1p and BBU6 are shown and compared with HSA1.


Assuntos
Mapeamento Cromossômico/métodos , Cromossomos Humanos Par 1 , Cromossomos de Mamíferos , Mucina-1/genética , Animais , Sequência de Bases , Bovinos , Células Cultivadas , Primers do DNA , Cabras , Humanos , Hibridização in Situ Fluorescente , Linfócitos/citologia , Linfócitos/fisiologia , Ovinos
18.
Chromosome Res ; 13(4): 349-55, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15973500

RESUMO

Comparative FISH-mapping among Y chromosomes of cattle (Bos taurus, 2n = 60, BTA, submetacentric Y chromosome), zebu (Bos indicus, 2n = 60, BIN, acrocentric Y chromosome but with visible small p-arms), river buffalo (Bubalus bubalis, 2n = 50, BBU, acrocentric Y chromosome), sheep (Ovis aries, 2n = 54, OAR, small metacentric Y chromosome) and goat (Capra hircus, 2n = 60, CHI, Y-chromosome as in sheep) was performed to extend the existing cytogenetic maps and improve the understanding of karyotype evolution of these small chromosomes in bovids. C- and R-banding comparison were also performed and both bovine and caprine BAC clones containing the SRY, ZFY, UMN0504, UMN0301, UMN0304 and DYZ10 loci in cattle and DXYS3 and SLC25A6 in goat were hybridized on R-banded chromosomes by FISH. The main results were the following: (a) Y-chromosomes of all species show a typical distal positive C-band which seems to be located at the same region of the typical distal R-band positive; (b) the PAR is located at the telomeres but close to both R-band positive and ZFY in all species; (c) ZFY is located opposite SRYand on different arms of BTA, BIN, OAR/CHI Y chromosomes and distal (but centromeric to ZFY) in BBU-Y; (d) BTA-Y and BIN-Y differ as a result of a centromere transposition or pericentric inversion since they retain the same gene order along their distal chromosome regions and have chromosome arms of different size; (e) BTA-Y and BBU-Y differ in a pericentric inversion with a concomitant loss or gain of heterochromatin; (f) OAR/CHI-Y differs from BBU-Y for a pericentric inversion with a major loss of heterochromatin and from BTA and BIN for a centromere transposition followed by the loss of heterochromatin.


Assuntos
Búfalos/genética , Bovinos/genética , Cromossomos de Mamíferos/genética , Evolução Molecular , Cabras/genética , Carneiro Doméstico/genética , Cromossomo Y/genética , Animais , Bandeamento Cromossômico , Hibridização in Situ Fluorescente
19.
Hum Mutat ; 24(1): 104-5, 2004 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15221800

RESUMO

The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Variação Genética/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Filhos Adultos , Alelos , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação/genética , Masculino , Polimorfismo Genético/genética , Fatores de Risco , Síndrome
20.
Cytogenet Genome Res ; 102(1-4): 39-41, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-14970676

RESUMO

A comparative fluorescence in situ mapping of the SMN gene was performed on R-banded chromosome preparations of cattle (Bos taurus, BTA, 2n = 60), river buffalo (Bubalus bubalis, BBU, 2n = 50), sheep (Ovis aries, OAR, 2n = 54) and goat (Capra hircus, CHI, 2n = 60), as well as on those of a calf from Piedmont breed affected by arthrogryposis. SMN was located on BTA20q13.1, OAR16q13.1, CHI20q13.1 and BBU19q13. These chromosomes and chromosome bands are believed to be homeologous, confirming the high degree of chromosome homeologies among bovids. The position of SMN was refined in cattle, compared to the two previous localizations, while it is a new gene assignment in the other three bovids. A comparative fiber-FISH performed on extended chromatin of both normal cattle and calf affected by arthrogryposis revealed more extended FITC signals in the calf, compared to the normal cattle (control), suggesting a possible duplication of the SMN gene in the calf affected by arthrogryposis. .


Assuntos
Mapeamento Cromossômico/métodos , Mapeamento Cromossômico/veterinária , Hibridização in Situ Fluorescente/métodos , Hibridização in Situ Fluorescente/veterinária , Proteínas do Tecido Nervoso/genética , Animais , Búfalos/genética , Bovinos , Doenças dos Bovinos/genética , Bandeamento Cromossômico/métodos , Bandeamento Cromossômico/veterinária , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico , Cabras/genética , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/veterinária , Proteínas de Ligação a RNA , Proteínas do Complexo SMN , Carneiro Doméstico/genética
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