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1.
Braz J Psychiatry ; 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38635950

RESUMO

OBJECTIVE: To describe the clinical outcomes and risk factors of death related to mental disorders in a cohort of Brazilian hospitalized patients with COVID-19. METHODS: This retrospective cohort study utilized the Brazilian database SIVEP-Gripe to analyze patients aged ≥18 years who had been hospitalized with COVID-19 between 2020 and 2022. The exposure of interest were mental disorders (anxiety, depression, schizophrenia, and bipolar disorder), identified through self-reported fields. The primary outcome was in-hospital mortality. Covariates included demographic and clinical features. Descriptive statistics, t-tests, chi-square tests, and binary logistic regression were used to analyze the data. RESULTS: A cohort of 2,124,285 patients was included in the analysis, with 23,246 individuals (1.1%) having self-reported mental disorders. Among these mental disorders, depression was the most prevalent (52.3%). The mortality rate of the patients with mental disorders was 30.8%. Analysis of risk factors for mortality revealed that age, gender, region, dyspnea, low oxygen saturation, and comorbidities were associated with an increased risk of death. Patients with schizophrenia had a higher mortality risk (aOR:1.68;95%CI:1.54-1.81). CONCLUSIONS: Patients diagnosed with schizophrenia have a greater likelihood of COVID-19- related death than those without mental health conditions. These findings underscore the significant effect of serious mental disorders on COVID-19 mortality.

2.
JAMA Pediatr ; 2023 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-37523191

RESUMO

This case-control study evaluates nationwide information surveillance systems in Brazil to estimate vaccine effectiveness against outcomes of COVID-19 in children and young persons.

3.
Int J Infect Dis ; 113: 87-89, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34628022

RESUMO

Coronavirus disease 2019 (COVID-19) protocols has reduced primary and secondary health care for other diseases, such as leishmaniasis, a parasitic, endemic, chronic and persistent disease in Brazil. To ascertain this, we compared the number of leishmaniasis cases diagnosed before and after the COVID-19 pandemic. In 5 regions of Brazil, there was an increase in the mean number of leishmaniasis clinic visits from 2020 pandemic period (over 57%) compared with 2017-2019 years. Interestingly, this increase was due to tegumentary leishmaniasis (TL) while visceral leishmaniasis consultations decreased considerably. The increase in clinic visits with a diagnosis of TL in all regions of Brazil during the pandemic period in 2020, shows that the epidemiological surveillance of neglected tropical diseases cannot slowdown in the country. Expanding information can minimize the negative impacts of COVID-19 on health promotion, prevention and monitoring of the most prevalent neglected diseases.


Assuntos
COVID-19 , Leishmaniose Cutânea , Assistência Ambulatorial , Brasil/epidemiologia , Humanos , Leishmaniose Cutânea/epidemiologia , Pandemias , SARS-CoV-2
6.
Braz Oral Res ; 30(1)2016 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-27223130

RESUMO

Sickle cell anemia (SCA) is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy) and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045) counts and atypical lymphocyte counts (p = 0.036) when the groups (with and without the need for endodontic treatment) were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals.


Assuntos
Anemia Falciforme/complicações , Doenças da Polpa Dentária/etiologia , Avaliação das Necessidades/estatística & dados numéricos , Tratamento do Canal Radicular/estatística & dados numéricos , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/uso terapêutico , Transfusão de Sangue/estatística & dados numéricos , Brasil , Criança , Pré-Escolar , Estudos Transversais , Doenças da Polpa Dentária/terapia , Feminino , Ácido Fólico/uso terapêutico , Humanos , Hidroxiureia/uso terapêutico , Contagem de Leucócitos , Masculino , Pessoa de Meia-Idade , Testes Sorológicos , Esplenectomia , Complexo Vitamínico B/uso terapêutico , Adulto Jovem
7.
Braz Oral Res ; 28: 1-3, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25337933

RESUMO

The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P). This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher's test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.


Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Família , Leucemia/epidemiologia , Leucemia/etiologia , Adolescente , Brasil/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Fatores de Risco
8.
Sao Paulo Med J ; 132(2): 85-91, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24714988

RESUMO

CONTEXT AND OBJECTIVE: Retinopathy of prematurity (ROP) is a known cause of blindness in which diagnosis and timely treatment can prevent serious harm to the child. This study aimed to evaluate the incidence of ROP and its association with known risk factors. DESIGN AND SETTING: Longitudinal incidence study in the neonatal intensive care unit (NICU) of Universidade Estadual de Montes Claros. METHODS: Newborns admitted to the NICU with gestational age less than 32 weeks and/or birth weight less than 1,500 grams, were followed up over a two-year period. The assessment and diagnosis of ROP were defined in accordance with a national protocol. The chi-square test or Fisher's exact test were used to determine associations between independent variables and ROP. Analysis on the independent effect of the variables on the results was performed using multiple logistic regression. RESULTS: The incidence of ROP was 44.5% (95% confidence interval, CI = 35.6-46.1) in the study population. The risk factors associated with the risk of developing the disease were: birth weight less than 1,000 grams (odds ratio, OR = 4.14; 95% CI = 1.34-12.77); gestational age less than 30 weeks (OR = 6.69; 95% CI = 2.10-21.31); use of blood derivatives (OR = 4.14; 95% CI = 2.99-8.99); and presence of sepsis (OR = 1.99; 95% CI = 1.45-2.40). CONCLUSIONS: The incidence of ROP was higher than that found in the literature. The main risk factors were related to extreme prematurity.


Assuntos
Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Retinopatia da Prematuridade/epidemiologia , Brasil/epidemiologia , Feminino , Idade Gestacional , Humanos , Incidência , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Modelos Logísticos , Masculino , Oxigenoterapia , Estudos Prospectivos , Valores de Referência , Fatores de Risco , Índice de Gravidade de Doença
9.
Sao Paulo Med J ; 131(5): 351-5, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24310804

RESUMO

CONTEXT: Tuberous sclerosis complex (TSC) is a genetic disease in the group known as neurocutaneous syndromes, with dominant autosomal inheritance. It is characterized by skin and adnexal lesions and central and peripheral nervous system tumors, with neurological and psychiatric findings. It may affect the heart, kidneys, eyes, face, bones, lungs, stomach and dentition. CASE REPORT: We present the case of a 66-year-old man with dermatological signs that included hypopigmented maculae, confetti-like lesions, shagreen plaque, angiofibromas on nasolabial folds, neck and back, nail dystrophy and periungual fibromas on fingers and toes. An electroencephalogram produced normal results, but magnetic resonance imaging showed a nodular image measuring 1.2 x 1.0 cm close to the Monro foramen, which was similar to cerebral parenchyma and compatible with a subependymal giant-cell astrocytoma. A conservative approach was taken, through control imaging examinations on the lesion for seven years, with absence of any expansive process or neurological symptoms. Abdominal ultrasonography revealed a solid, heterogenic and echogenic mass with a calcified focus, measuring 4.6 x 3.4 cm, in the rightkidney, compatible with angiomyolipoma. The patient was treated by means of complete nephrectomy because of malignant areas seen on histopathological examination and died one month after the procedure. This case report illustrates the importance of oral clinical findings such as dental enamel pits and angiofibromas in making an early diagnosis of TSC, with subsequent screening examinations, treatment and genetic counseling.


Assuntos
Angiofibroma/diagnóstico , Esmalte Dentário/patologia , Neoplasias Bucais/diagnóstico , Dermatopatias/diagnóstico , Esclerose Tuberosa/diagnóstico , Idoso , Biópsia , Evolução Fatal , Humanos , Imageamento por Ressonância Magnética , Masculino , Boca/patologia , Pele/patologia
10.
Rev Bras Epidemiol ; 15(3): 595-604, 2012 Sep.
Artigo em Inglês, Português | MEDLINE | ID: mdl-23090306

RESUMO

OBJECTIVE: To describe the main characteristics, including stage of disease and local treatment of patients admitted to two reference services for the treatment of breast cancer in the North of Minas Gerais. METHODS: We conducted a cross-sectional descriptive study. We evaluated medical records of 288 female patients with breast cancer admitted between January 2006 and December 2009, referred from a public hospital and a private clinic. Variables were analyzed using the chi-square test and multinomial logistic regression. RESULTS: 68.1% of patients were referred from the public hospital. There was a predominance of patients over 50 years old (54.5%), married (59%) and with children (87.8%). The mean age of the population studied was 63 years old. Time between suspected cancer and confirmation of diagnosis was over six months in 42.7% of patients. Cancer diagnosis was late (stage III and IV) in 47.6% of patients. Family history of breast cancer was present in 20.1%, 20.8% of them had performed self-breast examination, and 41% had been submitted to a mammogram. CONCLUSION: There was a higher prevalence of stage III/IV patients from the public service when compared to the private sector. We found that the major factors associated with the late diagnosis of breast cancer were the delay between suspected and confirmed diagnosis, the absence of family history of breast cancer and not having a mammogram.


Assuntos
Neoplasias da Mama/diagnóstico , Adulto , Brasil , Neoplasias da Mama/terapia , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Encaminhamento e Consulta
11.
Birth Defects Res A Clin Mol Teratol ; 94(6): 464-8, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22511506

RESUMO

BACKGROUND: Nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. The association of the rs987525 single nucleotide variant, located in a gene desert at 8q24.21 region, has been consistently replicated in European populations. We performed a structured association approach combined with transcriptional analysis of the MYC gene to dissect the role of rs987525 in oral clefting susceptibility in the ethnically admixed Brazilian population. METHODS: We performed the association study conditioned on the individual ancestry proportions in a sample of 563 patients and 336 controls, and in an independent sample of 221 patients and 261 controls. The correlation between rs987525 genotypes and MYC transcriptional levels in orbicularis oris muscle mesenchymal stem cells was also investigated in 42 patients and 4 controls. RESULTS: We found a significant association in the larger sample (p = 0.0016; OR = 1.80 [95% confidence interval {CI}, 1.21-2.69], for heterozygous genotype, and 2.71 [95% CI, 1.47-4.96] for homozygous genotype). We did not find a significant correlation between rs987525 genotypes and MYC transcriptional levels (p = 0.14; r = -0.22, Spearman Correlation). CONCLUSIONS: We present a positive association of rs987525 in the Brazilian population for the first time, and it is likely that the European contribution to our population is driving this association. We also cannot discard a role of rs987515 in MYC regulation, because this locus behaves as an expression quantitative locus of MYC in another tissue.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Loci Gênicos , Proteínas Proto-Oncogênicas c-myc/genética , Grupos Raciais , Brasil/epidemiologia , Estudos de Casos e Controles , Cromossomos Humanos Par 8 , Fenda Labial/etnologia , Fissura Palatina/etnologia , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Heterozigoto , Homozigoto , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Transcrição Gênica
12.
Int J Dermatol ; 50(12): 1470-4, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22097991

RESUMO

BACKGROUND: The purpose of this study was to evaluate the immunohistochemical profile of cytokeratins (Ck) in pseudoepitheliomatous hyperplasia of cutaneous leishmaniasis (CL). METHODS: The tissue samples, with pseudoepitheliomatous hyperplasia, were collected from 37 patients (age 6-85 years old) with indolent ulcers in skin confirmed as CL. The lesions were submitted to immunolabeling for Ck pairs 4-13, 5-14, and 6-16. RESULTS: In the 37 CL cases, Ck4 and Ck13 staining were, in the majority of cases, negative. Of them, 33 and 35 cases were negative for Ck4 and Ck13, respectively. The Ck4 immunostaining was found in basal and parabasal layers, and Ck13 was viewed in the basal compartment of epithelium. Ck5 was found in 29 cases distributed homogeneously in all layers. Ck14 and Ck6 were found in all samples in all layers, and Ck16 was positive for all cases but heterogeneously found in the basal layer. CONCLUSION: In summary, we noticed that the pattern of some Ck staining in pseudoepitheliomatous hyperplasia in CL lesions revealed intense epithelial reinforcement, protection, and proliferation.


Assuntos
Queratinas/metabolismo , Leishmaniose Cutânea/metabolismo , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Proliferação de Células , Criança , Epitélio/metabolismo , Epitélio/patologia , Feminino , Humanos , Hiperplasia/metabolismo , Hiperplasia/patologia , Imuno-Histoquímica , Queratinas/análise , Leishmaniose Cutânea/patologia , Masculino , Pessoa de Meia-Idade , Pele/metabolismo , Pele/patologia , Adulto Jovem
13.
Quintessence Int ; 42(8): 701-9, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21842010

RESUMO

OBJECTIVE: To compare the prevalence of orofacial manifestations between patients with and without sickle cell anemia and to investigate the distribution of such events in patients with sickle cell anemia by sex and age. METHOD AND MATERIAL: A cross-sectional study was conducted in which 330 subjects divided into two groups (a group of individuals with sickle cell anemia and a healthy control group) were examined. RESULTS: It was observed that patients with sickle cell anemia had a significantly higher prevalence of previous mental nerve neuropathy (P = .000) and delayed tooth eruption (P = .006) than patients without the disease. Regarding the distribution of orofacial manifestations in patients with sickle cell anemia by sex and age, the only statistical associations were between the prevalence of previous mental nerve neuropathy and sex (P = .023) and previous mandibular pain and age (P = .019). CONCLUSIONS: This study found that sickle cell anemia is associated with the prevalence of previous mental nerve neuropathy and delayed tooth eruption. Moreover, previous mental nerve neuropathy is more frequent among females with sickle cell anemia, and previous mandibular pain is more frequent among individuals older than 21 years of age with sickle cell anemia. Further studies using a methodology similar to the one in this study are necessary considering the scarcity of studies using this approach.


Assuntos
Anemia Falciforme/complicações , Dor Facial/etiologia , Doenças da Boca/etiologia , Doenças Dentárias/etiologia , Adolescente , Adulto , Distribuição por Idade , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Doenças dos Nervos Cranianos/etiologia , Estudos Transversais , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Nervo Mandibular , Pessoa de Meia-Idade , Razão de Chances , Distribuição por Sexo , Erupção Dentária , Adulto Jovem
14.
Arq Bras Cardiol ; 97(3): 186-93, 2011 Sep.
Artigo em Inglês, Português | MEDLINE | ID: mdl-21845344

RESUMO

BACKGROUND: Systematic assessments of the scientific production can optimize resource allocation and increase research productivity in Brazil. OBJECTIVE: The aim of this study was to evaluate the profile and scientific production of researchers in the field of Cardiology who have fellowship in Medicine provided by the Conselho Nacional de Desenvolvimento Científico e Tecnológico. METHODS: The curriculum Lattes of 33 researchers with active fellowships from 2006 to 2008 were included in the analysis. The variables of interest were: gender, affiliation, tutoring of undergraduate, masters and PhD students, and scientific production and its impact. RESULTS: : There was predominance of males (72.7%) and of fellowship level 2 (56.4%). Three states of the Federation were responsible for 94% of the researchers: SP (28; 71.8%), RS (4; 10.3%), e RJ (3; 9.1%). Four institutions are responsible for about 82% of researchers: USP (13; 39.4%), UNESP (5; 15.2%), UFRGS (4; 12.1%) e UNIFESP (3; 9.1%). During all academic careers, the researchers published 2.958 journal articles, with a mean of 89 articles per researcher. Of total, 55% and 75% were indexed at Web of Science and Scopus databases, respectively. The researchers received a total of 19648 citations at the database Web of Science, with a median of 330 citations per researcher (IQ = 198-706). The average number of citations per article was 13.5 citations (SD = 11.6). CONCLUSION: Our study has shown that researchers in the field of cardiology have a relevant scientific production. The knowledge of the profile of researchers in the field of Cardiology will probably enable effective strategies to qualitatively improve the scientific output of Brazilian researchers.


Assuntos
Bibliometria , Pesquisa Biomédica/estatística & dados numéricos , Cardiologia/estatística & dados numéricos , Brasil , Estudos Transversais , Educação de Pós-Graduação em Medicina , Feminino , Humanos , Fator de Impacto de Revistas , Masculino , Publicações Periódicas como Assunto , Apoio à Pesquisa como Assunto/estatística & dados numéricos , Fatores Sexuais
15.
J Bras Nefrol ; 33(1): 31-7, 2011 Mar.
Artigo em Inglês, Português | MEDLINE | ID: mdl-21541460

RESUMO

OBJECTIVE: This study aimed at evaluating the profile and scientific production of researchers in Nephrology and Urology, receiving grants in the area of Clinical Medicine from the Brazilian National Research Council. METHODS: The standardized online curriculum vitae (Curriculum Lattes) of 39 researchers in Medicine receiving grants in the 2006-2008 triennium were included in the analysis. The variables analyzed were: gender, affiliation, time from completion of the PhD program, scientific production, and supervision of undergraduate students, and master's and PhD programs. RESULTS: Males (74.4%) and category 2 grants (56.4%) predominated. The following three Brazilian states are responsible for 90% of the researchers: São Paulo (28; 71.8%); Rio Grande do Sul (4; 10.3%); and Minas Gerais (3; 7.7%). Four institutions are responsible for 70% of the researchers: UNIFESP (14; 36%); USP (8; 20.5%); UFMG (3, 7.7%); and UNICAMP (3; 7.7%). Considering the academic career, the assessed researchers published 3,195 articles in medical journals, with a median of 75 articles per researcher (QI = 52-100). The researchers received a total of 25,923 citations at the database Web of Science®, with a median of 452 citations per researcher (QI = 161-927). The average number of citations per article was 13.8 citations (SD = 11.6). CONCLUSIONS: The Southeastern region of Brazil concentrates researchers in Nephrology and Urology. Our study has shown an increase in the scientific production of most researchers in the last five years. By knowing the profile of researchers in Nephrology and Urology, more effective strategies to encourage the scientific production and the demand for resources to finance research projects can be defined.


Assuntos
Pesquisa Biomédica/estatística & dados numéricos , Nefrologia , Editoração/estatística & dados numéricos , Urologia , Estudos Transversais , Feminino , Organização do Financiamento/estatística & dados numéricos , Humanos , Masculino
16.
Int J Paediatr Dent ; 21(4): 314-20, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21470322

RESUMO

BACKGROUND: Adhesive procedures are often required to restore teeth affected by hypocalcified amelogenesis imperfecta (HAI). AIM: To evaluate the hardness of enamel/dentin of teeth affected by HAI and the bond strength to these substrates, as well the influence of 5% NaOCl on bond strength. DESIGN: Permanent molars presenting HAI and sound third molars were used. Enamel surfaces were wet-flattened and Knoop hardness was assessed. The two-step, etch-and-rinse adhesive Single Bond 2 (3M ESPE) was applied and resin cylinders bonded to the surfaces and submitted to microshear testing. The subjacent medium dentin was then exposed by wet-grinding. Hardness readings and microshear testing were carried out again. The relationship between hardness and bond strength was assessed by nonlinear regression analysis. RESULTS: Hardness of normal enamel was higher than hardness of enamel affected by HAI, whereas dentin hardness did not differ from normal to HAI-affected teeth. Enamel and dentin hardness were similar for teeth affected by HAI. Higher bond strengths were obtained to the normal tooth tissues. Dentin bond strength was higher than enamel bond strength. NaOCl exposure did not influence bond strengths. A positive linear relationship between enamel hardness and bond strength was observed. CONCLUSION: HAI imposes challenges to bonding to enamel and dentin.


Assuntos
Amelogênese Imperfeita/patologia , Colagem Dentária , Cimentos Dentários/química , Esmalte Dentário/ultraestrutura , Dentina/ultraestrutura , Resinas Compostas/química , Materiais Dentários/química , Análise do Estresse Dentário/instrumentação , Feminino , Dureza , Humanos , Masculino , Resistência ao Cisalhamento , Hipoclorito de Sódio/química , Solventes/química , Estresse Mecânico , Fatores de Tempo
17.
J Oral Sci ; 52(3): 509-12, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20881349

RESUMO

Hemifacial hyperplasia is a developmental disorder characterized by marked unilateral facial asymmetry. It involves the hard and soft tissues of the face. The cause is unknown, although several predisposing factors have been described. A case report of an 8-year-old boy with hemifacial hyperplasia is presented to highlight the clinical and imaging findings.


Assuntos
Assimetria Facial/congênito , Assimetria Facial/patologia , Ossos Faciais/anormalidades , Criança , Assistência Odontológica para Doentes Crônicos , Assimetria Facial/diagnóstico por imagem , Humanos , Masculino , Tomografia Computadorizada Espiral
18.
Indian J Dent Res ; 21(1): 138-40, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20427926

RESUMO

Clinical manifestations of tuberous sclerosis (TS) are variable, and oral involvement occurs in less than 10% of the affected patients. We reported herein a nine-year-old boy with dental enamel pits and gingival nodular lesions, histologically diagnosed as angiofibromas that leaded to the diagnosis of a family with TS. In this report, we demonstrated the multiprofessional importance in the diagnosis of TS. Early diagnosis of TS is essential for an appropriate treatment of the affected patients and genetic counseling.


Assuntos
Angiofibroma/etiologia , Hipoplasia do Esmalte Dentário/etiologia , Neoplasias Faciais/etiologia , Neoplasias Gengivais/etiologia , Esclerose Tuberosa/diagnóstico , Criança , Diagnóstico Diferencial , Humanos , Masculino , Equipe de Assistência ao Paciente , Esclerose Tuberosa/complicações
19.
J Appl Oral Sci ; 18(6): 646-9, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21308299

RESUMO

OBJECTIVES: Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. RESULTS: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. CONCLUSION: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.


Assuntos
Assimetria Facial/etiologia , Síndrome de Goldenhar/diagnóstico , Anormalidades Maxilofaciais/etiologia , Criança , Pré-Escolar , Feminino , Síndrome de Goldenhar/complicações , Humanos , Lactente , Masculino , Má Oclusão/etiologia , Mandíbula/anormalidades , Mandíbula/diagnóstico por imagem , Radiografia
20.
Pediatr Dent ; 30(6): 464-8, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19186770

RESUMO

Apert syndrome is 1 of the 5 craniosynostosis syndromes that shore clinical features and are caused by allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The purpose of this paper was to report a case of Apert syndrome, with particular emphasis on craniofacial and genetic features, in a 5-year-old female patient. The patient presented with several craniofacial deformities, including severe brachycephaly, midface hypoplasio, flat forehead, proptosis, hypertelorism, and short nose with a bulbous tip. Syndactylies of the hands and feet were also observed. Intraoral findings included arched palate with pseudocleft in the midline, upper lip with symmetric depression resembling pseudoclefts, severe malocclusion, and several decoyed teeth. DNA sequence and restriction enzyme analysis showed a G to C transversion, resulting in a serine to tryptophan amino acid substitution at position 252 (S252W). Identification of the clinical features associated with mutation analysis is important to correctly diagnose Apert syndrome and distinguish it from other clinically similar craniosynostosis syndromes.


Assuntos
Acrocefalossindactilia/complicações , Anormalidades Craniofaciais/genética , Palato/anormalidades , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Acrocefalossindactilia/genética , Substituição de Aminoácidos/genética , Pré-Escolar , Anormalidades Craniofaciais/complicações , Índice CPO , Fácies , Feminino , Humanos
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