RESUMO
The Drosophila homeobox segmentation gene fushi tarazu (ftz) is expressed in a seven-stripe pattern during early embryogenesis. This characteristic pattern is largely specified by the zebra element located immediately upstream of the ftz transcriptional start site. The FTZ-F1 protein, one of multiple DNA binding factors that interacts with the zebra element, is implicated in the activation of ftz transcription, especially in stripes 1, 2, 3, and 6. An FTZ-F1 complementary DNA has been cloned by recognition site screening of a Drosophila expression library. The identity of the FTZ-F1 complementary DNA clone was confirmed by immunological cross-reaction with antibodies to FTZ-F1 and by sequence analysis of peptides from purified FTZ-F1 protein. The predicted amino acid sequence of FTZ-F1 revealed that the protein is a member of the nuclear hormone receptor superfamily. This finding raises the possibility that a hormonal ligand affects the expression of a homeobox segmentation gene early in embryonic development.
Assuntos
Proteínas de Homeodomínio , Hormônios de Inseto/química , Sequência de Aminoácidos , Animais , Sequência de Bases , Northern Blotting , Southern Blotting , Western Blotting , Mapeamento Cromossômico , Clonagem Molecular , Proteínas de Drosophila , Drosophila melanogaster , Fatores de Transcrição Fushi Tarazu , Regulação da Expressão Gênica , Genes Homeobox , Dados de Sequência Molecular , Fases de Leitura Aberta , RNA/análise , Receptores de Esteroides/genética , Homologia de Sequência do Ácido Nucleico , Transcrição Gênica , Dedos de ZincoRESUMO
Is evolution an engineer, or is it a tinkerer--a "bricoleur"--building up complex molecules in organisms by increasing and adapting the materials at hand? An analysis of completely sequenced genomes suggests the latter, showing that increasing repetition of modules within the proteins encoded by these genomes is correlated with increasing complexity of the organism.
Assuntos
Sequências Repetitivas de Aminoácidos , Animais , Evolução Molecular , HumanosRESUMO
The abnormal oocyte mutation (2;44) originates in the wild: it confers no visible phenotype on homozygous abo males or females, but homozygous abo females produce defective eggs and the probability of their developing into adults is much lower than that of heterozygous sister females. We isolated by chromosome walking 200 kb of DNA from region 32. This paper reports that a restriction enzyme site polymorphism analysis in wild type and mutant stocks allowed us to identify a DNA rearrangement present only in stocks carrying the abo mutation. The rearrangement is caused by a DNA insert on the abo chromosome in region 32E which, by restriction map and sequence analysis, was identified as copia-like blood transposon. The transposon, in strains that had remained in abo homozygous conditions for several generations and had lost the abo maternal-effect, was no longer present in region 32E. Certain features of the abo mutation, discussed in the light of this finding, may be ascribed to the nature of the particular allele studied.
Assuntos
Elementos de DNA Transponíveis/fisiologia , Drosophila melanogaster/genética , Óvulo , Animais , Sequência de Bases , Southern Blotting , Epistasia Genética , Rearranjo Gênico , Dados de Sequência Molecular , Mutação , Fenótipo , Polimorfismo de Fragmento de Restrição , Mapeamento por RestriçãoRESUMO
The authors have studied the interaction between the abnormal oocyte mutation and an inversion of the X chromosome, In( 1)sc(4), which has a proximal breakpoint in or near the heterochromatic region (ABO) that maternally interacts with the abo product. It has been demonstrated that the presence of X chromosomes carrying this inversion, besides a marked increase in the severity of the maternal effect of the abo mutation, produces a zygotic effect resulting in the lethality of the progeny of stocks homozygous for abo and sc(4). These results indicate that the sc(4) inversion carries an abnormal region indispensable for the development of abo zygotes from sc(4);abo mothers.
RESUMO
The GnRH gene is expressed exclusively in a highly restricted population of approximately 800 neurons in the mediobasal hypothalamus in the mouse. The Otx2 homeoprotein has been shown to colocalize with GnRH in embryonic mouse brain. We have identified a highly conserved bicoid-related Otx target sequence within the proximal promoter region of the GnRH gene from several species. This element from the rat GnRH promoter binds baculovirus-expressed Otx2 protein and Otx2 protein in nuclear extracts of a hypothalamic GnRH-expressing neuronal cell line, GT1-7. Transient transfection assays indicate that the GnRH promoter Otx/bicoid site is required for specific expression of the GnRH gene in GT1-7 cells and that it can confer specificity to a neutral Rous sarcoma virus (RSV) promoter in GT1-7 cells but not in NIH3T3 cells. Overexpression of mouse Otx2 in GT1-7 cells induces expression of a GnRH promoter plasmid, an effect that is dependent upon the Otx binding site. Thus, the GnRH proximal promoter is regulated by the Otx2 homeoprotein. Finally, we have now demonstrated the presence of Otx2 protein in the GnRH neurons of the adult mouse hypothalamus. These data suggest that Otx2 is important in the development of the GnRH neuron and/or in the maintenance of GnRH expression in the adult mouse hypothalamus.
Assuntos
Hormônio Liberador de Gonadotropina/genética , Proteínas de Homeodomínio/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Transativadores/metabolismo , Células 3T3 , Animais , Vírus do Sarcoma Aviário/genética , Sequência de Bases , Sítios de Ligação , Linhagem Celular , Sequência Conservada , Regulação da Expressão Gênica , Hormônio Liberador de Gonadotropina/metabolismo , Proteínas de Homeodomínio/genética , Hipotálamo/metabolismo , Masculino , Camundongos , Proteínas do Tecido Nervoso/genética , Neurônios/metabolismo , Especificidade de Órgãos , Fatores de Transcrição Otx , Regiões Promotoras Genéticas , Ratos , Transativadores/genética , Transcrição GênicaRESUMO
Overwhelming evidence indicates that cancer is a genetic disease caused by the accumulation of mutations in oncogenes and tumor suppressor genes. It is also increasingly apparent, however, that cancer depends not only on mutations in these coding genes but also on alterations in the large class of non-coding RNAs. Here, we report that one such long non-coding RNA, TRPM2-AS, an antisense transcript of TRPM2, which encodes an oxidative stress-activated ion channel, is overexpressed in prostate cancer (PCa). The high expression of TRPM2-AS and its related gene signature were found to be linked to poor clinical outcome, with the related gene signature working also independently of the patient's Gleason score. Mechanistically, TRPM2-AS knockdown led to PCa cell apoptosis, with a transcriptional profile that indicated an unbearable increase in cellular stress in the dying cells, which was coupled to cell cycle arrest, an increase in intracellular hydrogen peroxide and activation of the sense TRPM2 gene. Moreover, targets of existing drugs and treatments were found to be consistently associated with high TRPM2-AS levels in both targeted cells and patients, ultimately suggesting that the measurement of the expression levels of TRPM2-AS allows not only for the early identification of aggressive PCa tumors, but also identifies a subset of at-risk patients who would benefit from currently available, but mostly differently purposed, therapeutic agents.
Assuntos
Biomarcadores Tumorais/genética , Neoplasias da Próstata/genética , RNA Antissenso/genética , Canais de Cátion TRPM/genética , Apoptose/genética , Pontos de Checagem do Ciclo Celular/genética , Linhagem Celular Tumoral , Estresse do Retículo Endoplasmático/genética , Humanos , Peróxido de Hidrogênio/metabolismo , Masculino , Estresse Oxidativo/genética , Prognóstico , Neoplasias da Próstata/mortalidade , Interferência de RNA , RNA Antissenso/biossíntese , RNA Interferente Pequeno , Canais de Cátion TRPM/biossíntese , Transcrição GênicaRESUMO
Hepatocellular carcinoma (HCC) is a malignant tumor with a marked tendency to spread through the portal system. Metastases from HCC usually involve lungs, surrenal glands, the skeletal and gastroenteric systems, spleen, heart and kidneys. Secondary localizations to the mandible are rare. Generally, bone metastases from HCC appear as osteolytic lesions more likely localized to the ribs, spine, femor, omer, sternum, and then to the mandible. Mandibular metastatic HCC is hemorrhagic in nature because of its hypervascularity. Any diagnostic maneuver that could end in bleeding should be avoided. Non-invasive diagnostic procedures such as computer tomography (CT) scan should be preferred. Among the invasive diagnostic procedures, only fine needle biopsy should be attempted and palliative radiotherapy could be useful for the control of local symptoms. A case report of a hemorrhagic mandibular metastatic HCC that had to be treated surgically, in order to control the severe and profuse bleeding, is presented.
Assuntos
Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , Neoplasias Mandibulares/secundário , Hemorragia Bucal/etiologia , Carcinoma Hepatocelular/complicações , Humanos , Neoplasias Hepáticas/complicações , Masculino , Neoplasias Mandibulares/complicações , Neoplasias Mandibulares/cirurgia , Pessoa de Meia-Idade , Hemorragia Bucal/cirurgiaRESUMO
Nose fractures in boxers ar clamfied and their pathogenesis described. Therapy is related to boxer's activity; in fact in boxers in activity the respiratory tract was reinstated; in that one retired over respiratory tract, nose aesthetics was treated too.
Assuntos
Traumatismos em Atletas , Boxe , Osso Nasal/lesões , Rinoplastia , Fraturas Cranianas/etiologia , Traumatismos em Atletas/etiologia , Traumatismos em Atletas/cirurgia , Humanos , Masculino , Osso Nasal/cirurgia , Fraturas Cranianas/cirurgiaRESUMO
Surgical or traumatic losses of substances should preferably be made good by autografts, though "alloplastic implants" are a sound alternative. An account is given of the chemical and physical properties of intrinsic and manmade synthetic polymers. The best polymers for the preparation of endoprostheses are indicated, and reference is made to their more common indications in maxillofacial reconstructive surgery.
Assuntos
Prótese Mandibular , Prótese Maxilofacial , Elastômeros de Silicone , HumanosRESUMO
A case of mandibular condyle osteochondroma is reported, special attention being paid to radiographic aspects and to the functional changes brought on by this neoplasia. Surgical and meta-operative treatment to correct residual latero-deviation and occlusal relations are described.
Assuntos
Condroma/patologia , Côndilo Mandibular/patologia , Neoplasias Mandibulares/patologia , Adulto , Condroma/diagnóstico por imagem , Condroma/cirurgia , Feminino , Humanos , Côndilo Mandibular/diagnóstico por imagem , Côndilo Mandibular/cirurgia , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Mandibulares/cirurgia , Osteotomia , RadiografiaRESUMO
To elaborate any protocol treatment it is vitally important to start therapy with the aim of resolving the etiological factor in order to avoid the risk of recidivation. For this purpose the stages which have led to the loss of functional equilibrium must be traced backwards. The most striking symptoms of this damage are represented by the altered occlusal ratios, but the etiopathogenesis must be sought not only in occlusal causes but, more often, in dysmorphic, postural or neuro-muscular causes. It is necessary to start working backwards having restored the spatial position of the jaw in all three dimensions. In order to achieve this for the past three years the authors have routinely used an occlusal plate that they have perfected in the treatment of the majority of patients with dysfunctional syndrome of the stomatognathic apparatus. Over 70% of approximately 600 cases referred to the authors during the same period were treated in this way. The choice of these cases was conditioned by the facial typology of patients. In fact, these patients were characterised by a facial typology which tended to be hypo-divergent. This provoked a condition of "mandibular imprisonment" with an occlusal ratio which locks the jaw in a retruded position. This condition is identified by the authors as the factor that triggers the syndrome not only in those patients in which it is clearly possible to diagnose occlusal diagnosis, but also in those cases in which the pathogenetic motive has a number of causes, for example, poor posture and cases of dysmorphosis.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
Transtornos Craniomandibulares/terapia , Oclusão Dentária Balanceada , Aparelhos Ortodônticos Funcionais , Humanos , Modelos Dentários , Desenho de Aparelho Ortodôntico , Palato , SíndromeRESUMO
The purpose of this work is to consider the sensibility, reliability, and utility of the computerized electromyography and kinesiography in the diagnosis and study of the functional results in patients affected of single or bilateral previous fractures of the condyles. The Authors analyse three clinical parameters and compare them with thirteen parameters gathered from the computerized data and the kinesiogram and electromyogram analysis of a selected sample of thirteen patients with previous fractures of the condyles. This comparison has shown the greatest reliability and sensibility (a larger quantity of instrumental data as regards the clinical checkup and absence of false negative diagnosis) of these techniques with regard to ordinary clinical checkup. Furthermore the features of objectivity, non invasion and easy repetition, indicate that computerized electromyography and kinesiography play an important role in the diagnosis and study of the functional results of fractures of the condyles and in the follow-up examination.
Assuntos
Côndilo Mandibular/lesões , Fraturas Mandibulares/diagnóstico , Diagnóstico por Computador/métodos , Diagnóstico por Computador/estatística & dados numéricos , Eletromiografia/métodos , Eletromiografia/estatística & dados numéricos , Seguimentos , Humanos , Côndilo Mandibular/fisiopatologia , Fraturas Mandibulares/epidemiologia , Fraturas Mandibulares/fisiopatologia , Movimento , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Fatores de Tempo , Resultado do TratamentoRESUMO
After taking the clinical case examined as a starting point and supporting the data obtained with a literature analysis of the cancerous relapse of a parotid pleomorphic adenoma, the Authors suggested a suitable surgical operation (total parotidectomy with conservation of the facial nerve) in the treatment of parotid pleomorphic adenoma. Doing so, it is possible to avoid a relapse of neoplasm and a possible transformation into malignancy. Furthermore it might prevent the formation of parotid carcinoma.
Assuntos
Adenocarcinoma/diagnóstico , Adenoma Pleomorfo/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Neoplasias Parotídeas/diagnóstico , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Adenoma Pleomorfo/patologia , Adenoma Pleomorfo/cirurgia , Idoso , Humanos , Metástase Linfática , Masculino , Invasividade Neoplásica , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Glândula Parótida/patologia , Glândula Parótida/cirurgia , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/cirurgiaRESUMO
Osteoma is a benign bone tumour with a very slow growth. In the maxillofacial district the paranasal sinuses and the mandible are more frequently involved. This type of tumour is clinically asymptomatic and the signs of its presence are due to the fact that its expansive and centrifugal growth changes the face features. The surgical operation has a double aim: to solve the aesthetic problem and to prevent complications. In fact, obstructions and compressions ab estrinseco may compromise the function of the nearest organs. The aim of our work has been to show a clinical case which is interesting from a clinical, diagnostic and therapeutic point of view.
Assuntos
Neoplasias Mandibulares/patologia , Osteoma/patologia , Adulto , Humanos , Masculino , Mandíbula/diagnóstico por imagem , Mandíbula/patologia , Mandíbula/cirurgia , Neoplasias Mandibulares/diagnóstico por imagem , Neoplasias Mandibulares/cirurgia , Osteoma/diagnóstico por imagem , Osteoma/cirurgia , Radiografia PanorâmicaRESUMO
A clinic-statistical study of maxillo-facial fractures in a series of 52 children is reported. This group presents a higher involvement of mandibular body and a low rate M:F than in the literature. Factors responsible for increasing of maxillo-facial traumas in little girls and in school age are analyzed.
Assuntos
Fraturas Maxilares , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fraturas Maxilares/epidemiologiaRESUMO
Surgical arthroscopy is an important option in the treatment of TMJ pain and disfunction. Also sonography of the TMJ is a technique that with recent improvements graphically displays and analyzes joint sounds. A comparison was performed between presurgical data obtained by sonography, clinical findings obtained by surgical arthroscopy, and post surgical control performed by sonography. Precise correlation between these data was found in the case reported.
Assuntos
Artroscopia , Auscultação , Articulação Temporomandibular/fisiopatologia , Adulto , Artroscópios , Artroscopia/métodos , Auscultação/instrumentação , Auscultação/métodos , Feminino , Humanos , Período Pós-Operatório , Articulação Temporomandibular/cirurgia , Síndrome da Disfunção da Articulação Temporomandibular/diagnóstico , Síndrome da Disfunção da Articulação Temporomandibular/fisiopatologia , Síndrome da Disfunção da Articulação Temporomandibular/cirurgiaRESUMO
A case of cervicofacial actinomycosis, sited in the central hyoid region, is reported. The Authors have emphasized the difficulties of the diagnosis. It's very important hat the clinical diagnosis of actinomycotic infection be confirmed by a positive culture test. Actinomycosis can be suspected if multiple recurrent pustular swellings are present, associated with any trauma or teeth extractions.
Assuntos
Actinomicose Cervicofacial/diagnóstico , Actinomicose Cervicofacial/patologia , Actinomicose Cervicofacial/cirurgia , Idoso , Músculos Faciais/patologia , Músculos Faciais/cirurgia , Humanos , MasculinoRESUMO
Twenty years experience (from 1975 to 1994), on 483 patients with injury of the maxillo-facial area observed at the Department of Maxillo-Facial Surgery of the University of Naples "Federico II" is reported. The analysis of the data, according to the literature, shows that the sex most involved is male (76%) with a prevalence of the second decade of life (38%); street injury is the most frequent cause of maxillo-facial fracture (48.5%), while in 1.6% the cause is not reported. Mandibular fractures (57%), particularly those of the left condyle, are more frequent. The type of treatment is discussed in relation to the site of fracture, in particular the therapy of the condylar ones. In fact, in the treatment of those fractures the authors use sequential functional plates, the first of whose presents a monolateral byte, homolateral to the injury, while the second a contralateral guide in closure. The use of such plates, even if it doesn't often obtain a perfect anatomical realignment of the fracture, allows an optimal functional rehabilitation due to the potential of remodelling of the condyle, avoiding complications related to surgical intervention.
Assuntos
Fraturas Ósseas/epidemiologia , Traumatismos Maxilofaciais/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Criança , Feminino , Fraturas Ósseas/etiologia , Fraturas Ósseas/terapia , Humanos , Itália/epidemiologia , Masculino , Traumatismos Maxilofaciais/etiologia , Traumatismos Maxilofaciais/terapia , Pessoa de Meia-Idade , Distribuição por SexoRESUMO
The authors report a case of carcinoma in an ex pleomorphic adenoma of the parotid gland that was recently referred to their attention. This form of carcinoma is not very frequent and in the literature it is reported in a percentage of cases ranging from 1.5 to 12%. The pathogenesis of this neoplasia is controversial and at the present state of the art there are authors who support the hypothesis of a malignant transformation of a previous pleomorphic adenoma, and those who sustain the onset of the tumour ex novo. At present, there is a tendency to differentiate the carcinoma ex pleomorphic adenoma from the malignant mixed tumour: the histological analysis of the former in fact shows a benign stromal component typical of pleomorphic adenoma associated with a malignant epithelial component, whereas in the malignant mixed tumour both the mesenchymal and epithelial components are malignant. The authors use this case report as a starting point to review their 20-year experience, of pleomorphic adenoma in order to evaluate the behaviour of this tumour, above all in relation to the phenomenon of recidivation and cancerization. They report recidivation in 3.5% of cases and no malignant degeneration. The surgical approach used varied depending on the site and size of the neoformation, as well as on whether the tumour was primary or recurrent.
Assuntos
Adenoma Pleomorfo/diagnóstico , Carcinoma/diagnóstico , Neoplasias Parotídeas/diagnóstico , Adenoma Pleomorfo/patologia , Adenoma Pleomorfo/cirurgia , Carcinoma/patologia , Carcinoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Parotídeas/patologia , Neoplasias Parotídeas/cirurgiaRESUMO
BACKGROUND AND AIM: If not reconstructed, mandibular defects resulting from oncological surgery can leave major functional and cosmetic sequelae which may impede these patients from returning to professional and family life. Reconstruction may be immediate or deferred, but the authors clearly recommend immediate reconstruction. METHODS: An analysis is made of the different techniques used for the reconstruction of mandibular defects, specifying those which are currently used and the situations in which they are applied. The advantages and disadvantages of microsurgical flaps and pedicled flaps are emphasised. The immediate use of endosseous implants is also discussed. RESULTS: The results of the various types of reconstruction are compared from a cosmetic and functional point of view. The latter includes a study of the quality of speech, deglutition, mastication and labial competence. Mastication is studied in two types of patients: those with osteointegrated implants with neomandibular reconstruction and those in whom osteointegrated implants were not used. All these patients survived 5 years after surgery. CONCLUSIONS: The authors recommend the immediate reconstruction of mandibular defects. Microsurgical flaps and pedicled flaps can be used for this purpose. Bone flaps may be used for endosseous titanium implants, whereas osseous flaps which do not provide a sufficient guarantee of rehabilitation should not be used. Implants should be inserted during oncological surgery, since postoperative radiotherapy may alter osteointegration of titanium implants are then used. The overall survival of these patients depends on the margins of local resection which are much wider using these techniques.