Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 216
Filtrar
1.
Rev. Odontol. Araçatuba (Impr.) ; 44(1): 47-52, jan.-abr. 2023.
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-1427917

RESUMO

A odontologia reabilitadora tem como um dos seus ramos a especialidade de Prótese Bucomaxilofacial (PBMF), que visa restaurar ou substituir estruturas perdidas na região facial e no sistema estomatognático artificialmente, podendo ser ou não removidos pelo paciente. O presente trabalho objetiva revisar a leitura a respeito da reabilitação com PBMF e a sua aplicabilidade na clínica odontológica. Os indivíduos com alguma perda de estrutura na região de cabeça e pescoço, devido a traumas físicos e/ou químicos, defeitos congênitos, doenças autoimunes, neoplasias, infecções e parasitas, são pacientes para os quais há a indicação da reposição da parte ausente. As reconstruções podem ser perdas intraorais (área da maxila, mandíbula), extraorais (oculopalpebral, ocular, nasal, facial extensa e auricular) ou conjugadas. Esse é um trabalho multidisciplinar, com especialistas de áreas abrangentes e todos os especialistas trabalham de forma conjunta. Pode-se concluir que, embora seja uma das especialidades mais nobres da odontologia, ainda é muito desconhecida por parte dos estudantes e profissionais das áreas da saúde e são próteses absolutamente fundamentais para a reabilitação e qualidade de vida dos indivíduos que tem a necessidade do uso da prótese PBMF(AU)


Rehabilitating dentistry has as one of its branches the specialty of Oral and Maxillofacial Prosthesis (PBMF), which aims to restore or replace structures lost in the facial region and in the stomatognathic system artificially, which may or may not be removed by the patient. The present study aims to review the reading about rehabilitation with PBMF and its applicability in dental clinic. Individuals with some loss of structure in the head and neck region, due to physical and/or chemical trauma, birth defects, autoimmune diseases, neoplasms, infections and parasites, are patients in whom there is an indication for replacement of the absent part. Reconstructions can be intraoral (maximal area, mandible), extraoral (oculopalpebral, ocular, nasal, extensive facial and auricular) or conjugated losses. It is a multidisciplinary work, with specialists from the comprehensive areas and that all specialists work together. It can be concluded that although it is one of the noblest specialties of dentistry, it is still very unknown to students and health professionals, and they are absolutely fundamental prostheses for the rehabilitation and quality of life of individuals who need the use the PBMFprosthesis(AU)


Assuntos
Cabeça/anormalidades , Prótese Maxilofacial , Pescoço/anormalidades , Qualidade de Vida , Reabilitação , Doenças Autoimunes , Anormalidades Congênitas , Sistema Estomatognático/lesões , Reconstrução Mandibular , Cirurgiões Bucomaxilofaciais , Neoplasias
2.
Head Neck Pathol ; 15(1): 25-40, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33723758

RESUMO

The spectrum of "developmental" lesions that occur in the head and neck predominantly congenital in origin and arising at birth and/or discovered in childhood is broad and fascinating. These have been grouped into categories such as "ectopias", "heterotopias", "hamartomas", and "choristomas". On a philosophical and consequently systematic level, these lesions, mostly benign tumors seem to lack a true understanding of the pathogenetic foundation on which to base a more unified taxonomic designation. In this review, we will consider some of these select tumors as they represent syndromic associations (nasal chondromesenchymal hamartoma and DICER1 syndrome), the lingual choristoma from the perspective of its nomenclature and classification, lesions with ectopic meningothelial elements, and teratomas and the enigmatic "hairy polyp" in reference to a broader discussion of pathogenesis and pluripotent cells in the head and neck. A consistent thread will be how these lesions are designated with some final thoughts on future directions regarding the investigation of their pathogenesis and taxonomic nomenclature.


Assuntos
Cabeça/anormalidades , Cabeça/patologia , Pescoço/anormalidades , Pescoço/patologia , Otorrinolaringopatias/patologia , Criança , Coristoma/congênito , Coristoma/patologia , Feminino , Hamartoma/congênito , Hamartoma/patologia , Humanos , Masculino , Otorrinolaringopatias/congênito , Teratoma/congênito , Teratoma/patologia
3.
Head Neck Pathol ; 15(1): 59-70, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33723757

RESUMO

Vascular anomalies, further classified into vascular tumors and malformations, often involve the head and neck region of children. These entities may raise diagnostic dilemmas, as they often demonstrate heterogenous and overlapping histologic features. The aim of this paper is to provide an overview of the common vascular anomalies in the head and neck region of children. Specific entities discussed include infantile hemangioma, congenital hemangioma, tufted angioma, kaposiform hemangioendothelioma, and various vascular malformations. Clinicopathologic features and associated molecular associations are reviewed.


Assuntos
Cabeça/anormalidades , Pescoço/anormalidades , Malformações Vasculares/patologia , Criança , Feminino , Humanos , Masculino
4.
Toxicol In Vitro ; 72: 105088, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33429043

RESUMO

The present study investigated the developmental toxicity of diethylstilbestrol (DES) in the zebrafish embryotoxicity test (ZET). This was done to investigate whether the ZET would better capture the developmental toxicity of DES than the embryonic stem cells test (EST) that was previously shown to underpredict the DES-induced developmental toxicity as compared to in vivo data, potentially because the EST does not capture late events in the developmental process. The ZET results showed DES-induced growth retardation, cumulative mortality and dysmorphisms (i.e. induction of pericardial edema) in zebrafish embryos while the endogenous ERα agonist 17ß-estradiol (E2) showed only growth retardation and cumulative mortality with lower potency compared to DES. Furthermore, the DES-induced pericardial edema formation in zebrafish embryos could be counteracted by co-exposure with ERα antagonist fulvestrant, indicating that the ZET captures the role of ERα in the mode of action underlying the developmental toxicity of DES. Altogether, it is concluded that the ZET differentiates DES from E2 with respect to their developmental toxicity effects, while confirming the role of ERα in mediating the developmental toxicity of DES. Furthermore, comparison to in vivo data revealed that, like the EST, in a quantitative way also the ZET did not capture the relatively high in vivo potency of DES as a developmental toxicant.


Assuntos
Carcinógenos/toxicidade , Dietilestilbestrol/toxicidade , Embrião não Mamífero/efeitos dos fármacos , Desenvolvimento Embrionário/efeitos dos fármacos , Estradiol/toxicidade , Estrogênios/toxicidade , Teratogênicos/toxicidade , Peixe-Zebra/anormalidades , Animais , Embrião não Mamífero/anormalidades , Feminino , Cabeça/anormalidades , Cardiopatias Congênitas/induzido quimicamente , Masculino , Cauda/anormalidades , Cauda/efeitos dos fármacos , Testes de Toxicidade , Saco Vitelino/anormalidades , Saco Vitelino/efeitos dos fármacos
5.
Laryngoscope ; 131(6): 1392-1397, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33107991

RESUMO

OBJECTIVES: An increasing number of treatment modalities for lymphatic malformations are being described, complicating therapeutic decisions. Understanding lymphatic malformation natural history is essential. We describe management of head and neck lymphatic malformations where decisions primarily addressed lesion-induced functional compromise (ie, breathing, swallowing) to identify factors associated with invasive treatment and active observation. We hypothesize that non-function threatening malformations can be observed. STUDY DESIGN: Retrospective case series. METHODS: Retrospective case series of consecutive head and neck lymphatic malformation patients (2000-2017) with over 2 years of follow-up. Patient characteristics were summarized and associations with invasive treatment (surgery or sclerotherapy) tested using Fisher's exact. In observed patients, factors associated with spontaneous regression were assessed with Fisher's exact test. RESULTS: Of 191 patients, 101 (53%) were male, 97 (51%) Caucasian, and 98 (51.3%) younger than 3 months. Malformations were de Serres I-III 167 (87%), or IV-V 24 (12%), and commonly located in the neck (101, 53%), or oral cavity (36, 19%). Initial treatments included observation (65, 34%) or invasive treatments such as primary surgery (80, 42%), staged surgery (25, 13%), or primary sclerotherapy (9, 5%). Of 65 initially observed malformations, 8 (12%) subsequently had invasive treatment, 36 (58%) had spontaneous regression, and 21 (32%) elected for no invasive therapy. Spontaneous regression was associated with location in the lateral neck (P = .003) and macrocystic malformations (P = .017). CONCLUSION: Head and neck lymphatic malformation treatment selection can be individualized after stratifying by stage, presence of functional compromise, and consideration of natural history. Recognizing the spectrum of severity is essential in evaluating efficacy of emerging treatments, as selected malformations may respond to observation. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:1392-1397, 2021.


Assuntos
Cabeça/anormalidades , Anormalidades Linfáticas/terapia , Pescoço/anormalidades , Conduta Expectante , Pré-Escolar , Tomada de Decisão Clínica , Bases de Dados Factuais , Feminino , Humanos , Lactente , Anormalidades Linfáticas/patologia , Masculino , Procedimentos Cirúrgicos Otorrinolaringológicos/estatística & dados numéricos , Estudos Prospectivos , Estudos Retrospectivos , Escleroterapia/estatística & dados numéricos , Resultado do Tratamento
6.
Pediatrics ; 146(3)2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32868470

RESUMO

Pediatric care providers, pediatricians, pediatric subspecialty physicians, and other health care providers should be able to recognize children with abnormal head shapes that occur as a result of both synostotic and deformational processes. The purpose of this clinical report is to review the characteristic head shape changes, as well as secondary craniofacial characteristics, that occur in the setting of the various primary craniosynostoses and deformations. As an introduction, the physiology and genetics of skull growth as well as the pathophysiology underlying craniosynostosis are reviewed. This is followed by a description of each type of primary craniosynostosis (metopic, unicoronal, bicoronal, sagittal, lambdoid, and frontosphenoidal) and their resultant head shape changes, with an emphasis on differentiating conditions that require surgical correction from those (bathrocephaly, deformational plagiocephaly/brachycephaly, and neonatal intensive care unit-associated skill deformation, known as NICUcephaly) that do not. The report ends with a brief discussion of microcephaly as it relates to craniosynostosis as well as fontanelle closure. The intent is to improve pediatric care providers' recognition and timely referral for craniosynostosis and their differentiation of synostotic from deformational and other nonoperative head shape changes.


Assuntos
Craniossinostoses/diagnóstico , Acrocefalossindactilia/genética , Fenótipo de Síndrome de Antley-Bixler/genética , Suturas Cranianas/anatomia & histologia , Disostose Craniofacial , Craniossinostoses/classificação , Craniossinostoses/etiologia , Craniossinostoses/cirurgia , Cabeça/anormalidades , Humanos , Lactente , Hipertensão Intracraniana/etiologia , Ilustração Médica , Microcefalia/etiologia , Osteogênese/fisiologia , Fenótipo , Fotografação , Polidactilia/genética , Receptores de Fatores de Crescimento de Fibroblastos/metabolismo , Procedimentos de Cirurgia Plástica , Crânio/anatomia & histologia , Crânio/diagnóstico por imagem , Crânio/crescimento & desenvolvimento , Sinostose/complicações , Sinostose/diagnóstico por imagem
7.
World J Surg ; 44(11): 3616-3619, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32642795

RESUMO

BACKGROUND: Congenital anomalies are one component of the overwhelming surgical disease burden in low- and middle-income countries (LMICs). Lymphatic malformations (LMs) are a common congenital deformity of the head and neck in which the utilization of sclerotherapy may avoid surgery and yield superior outcomes. To be useful in LMICs, sclerosing agents must be widely available, inexpensive, and effective. METHODS: A retrospective review of 10 pediatric patients with macrocystic or mixed LMs who were treated with self-compounded doxycycline sclerotherapy at Rwanda's Central University Teaching Hospital of Kigali was performed. Doxycycline oral tablets were crushed by hand, mixed with normal saline at a concentration of doxycycline 10 mg/mL, and injected directly into LMs of the head and neck. RESULTS: Ten pediatric patients underwent 21 sclerotherapy sessions with a mean of 2.1 sessions per patient (SD 1.3, range 1-5). Of the 8 patients that were seen in follow-up, all achieved at least 80% resolution, 6 of 8 achieved 100% resolution, and none required surgery. One patient developed an infection at the injection site which resolved with antibiotics. CONCLUSIONS: Self-compounded doxycycline sclerotherapy is a safe, effective, and widely available treatment option for sclerotherapy of LMs in LMICs.


Assuntos
Anormalidades Congênitas/terapia , Doxiciclina , Escleroterapia , Criança , Doxiciclina/uso terapêutico , Cabeça/anormalidades , Humanos , Pescoço/anormalidades , Estudos Retrospectivos , Ruanda , Resultado do Tratamento
8.
Biomed Res Int ; 2020: 7837213, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32149137

RESUMO

BACKGROUND: The skull encompasses and houses one of the most important organs in the body-the brain-and like all tissues in the body, it is comprised of living cells that are constantly remodeling as this maintains the strength and homeostasis of the bone. In the present study, abnormal bone growth patterns were observed and the possible causes of said findings were investigated in multiple cadaver skulls dissected during head and neck anatomy courses at Detroit Mercy Dental over the past year. There are many factors, both intrinsic and extrinsic, with differences in stimulation to the skull resulting in skull abnormalities. Materials and Methods. For this study, skull abnormalities were examined from 65 formalin-embalmed cadaver heads, obtained from the Gross Anatomy Laboratory at the University of Detroit Mercy School of Dentistry between the years 2016 and 2019. We have recorded the age, sex, and previous chief medical issues of all lab specimens used in the study. Skulls were later evaluated for possible indications of bone disease such as hypertosis frontalis interna (HFI) or Paget's disease. RESULTS: Among the sixty-five specimens provided to the Detroit Mercy Dental cadaver lab, 19 specimens (29%) were found to present with irregular, undulating, thickening of the frontal bone internal surface. The findings located on the skulls closely resembled the gross anatomic appearance of HFI or Paget's disease; however, a conclusive diagnosis of these skull abnormalities cannot be made without a pathologist biopsy and radiological examination. Twelve of the nineteen specimens that displayed possible bone disease, approximating 63% prevalence, were females; their ages ranged from 68 to 95 years old. Thus, seven of the nineteen specimens exhibiting features of skull abnormalities, approximating 36% prevalence, were males with ages ranging from 70 to 103 years old. In addition, five of these nineteen specimens collected (26% prevalence) had been diagnosed with neurological disorders, including Alzheimer's, dementia, depression, and Parkinson's disease. In the current study, the proportion of specimens exhibiting skull abnormalities was higher compared to the overall prevalence observed in previous studies. CONCLUSION: Possible causes of observed anatomical abnormalities in the skull of cadavers of a gross anatomy laboratory were investigated, and it was determined that hypertosis frontalis interna (HFI) may contribute to such abnormalities. This is a condition that affects bone growth in the frontal skull. Our numbers of skull abnormalities were higher than previous studies and might be due to the fact that HFI was predominately present as an incidental finding during imaging of postmenopausal females or observed postmortem in cadavers. In addition, Paget's disease or hormonal imbalances could also result in similar features, and thus cannot be ruled out as a plausible cause. Paget's disease causes the bone to deposit at a faster rate than normal, which will result in thick and brittle bone. Studies that will involve further examination of new cadavers for the presence of HFI is needed, either using biopsy specimens and/or radiological examination to explore possible causes for the abnormal bone growth in the frontal bone.


Assuntos
Cadáver , Doenças do Sistema Nervoso/patologia , Crânio/anormalidades , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer , Osso e Ossos/anormalidades , Demência , Depressão , Feminino , Cabeça/anormalidades , Humanos , Masculino , Doenças do Sistema Nervoso/epidemiologia , Doença de Parkinson , Prevalência
9.
Am J Med Genet A ; 182(5): 1008-1020, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32077592

RESUMO

Williams-Beuren syndrome (WBS) is a multisystem disorder caused by a hemizygous deletion on 7q11.23 encompassing 26-28 genes. An estimated 2-5% of patients have "atypical" deletions, which extend in the centromeric and/or telomeric direction from the WBS critical region. To elucidate clinical differentiators among these deletion types, we evaluated 10 individuals with atypical deletions in our cohort and 17 individuals with similarly classified deletions previously described in the literature. Larger deletions in either direction often led to more severe developmental delays, while deletions containing MAGI2 were associated with infantile spasms and seizures in patients. In addition, head size was notably smaller in those with centromeric deletions including AUTS2. Because children with atypical deletions were noted to be less socially engaged, we additionally sought to determine how atypical deletions relate to social phenotypes. Using the Social Responsiveness Scale-2, raters scored individuals with atypical deletions as having different social characteristics to those with typical WBS deletions (p = .001), with higher (more impaired) scores for social motivation (p = .005) in the atypical deletion group. In recognizing these distinctions, physicians can better identify patients, including those who may already carry a clinical or FISH WBS diagnosis, who may benefit from additional molecular evaluation, screening, and therapy. In addition to the clinical findings, we note mild endocrine findings distinct from those typically seen in WBS in several patients with telomeric deletions that included POR. Further study in additional telomeric deletion cases will be needed to confirm this observation.


Assuntos
Cromossomos Humanos Par 7/genética , Neoplasia Endócrina Múltipla/genética , Transtornos do Neurodesenvolvimento/genética , Síndrome de Williams/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Deleção Cromossômica , Feminino , Cabeça/anormalidades , Cabeça/fisiopatologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla/epidemiologia , Neoplasia Endócrina Múltipla/fisiopatologia , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/fisiopatologia , Tamanho do Órgão/genética , Fenótipo , Síndrome de Williams/epidemiologia , Síndrome de Williams/fisiopatologia , Adulto Jovem
10.
Plast Reconstr Surg ; 144(6): 1051e-1060e, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31764657

RESUMO

BACKGROUND: Evaluation of surgical treatment for craniosynostosis is typically based on subjective visual assessment or simple clinical metrics of cranial shape that are prone to interobserver variability. Three-dimensional photography provides cheap and noninvasive information to assess surgical outcomes, but there are no clinical tools to analyze it. The authors aim to objectively and automatically quantify head shape from three-dimensional photography. METHODS: The authors present an automatic method to quantify intuitive metrics of local head shape from three-dimensional photography using a normative statistical head shape model built from 201 subjects. The authors use these metrics together with a machine learning classifier to distinguish between patients with (n = 266) and without (n = 201) craniosynostosis (aged 0 to 6 years). The authors also use their algorithms to quantify objectively local surgical head shape improvements on 18 patients with presurgical and postsurgical three-dimensional photographs. RESULTS: The authors' methods detected craniosynostosis automatically with 94.74 percent sensitivity and 96.02 percent specificity. Within the data set of patients with craniosynostosis, the authors identified correctly the fused sutures with 99.51 percent sensitivity and 99.13 percent specificity. When the authors compared quantitatively the presurgical and postsurgical head shapes of patients with craniosynostosis, they obtained a significant reduction of head shape abnormalities (p < 0.05), in agreement with the treatment approach and the clinical observations. CONCLUSIONS: Quantitative head shape analysis and three-dimensional photography provide an accurate and objective tool to screen for head shape abnormalities at low cost and avoiding imaging with radiation and/or sedation. The authors' automatic quantitative framework allows for the evaluation of surgical outcomes and has the potential to detect relapses. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, I.


Assuntos
Craniossinostoses/cirurgia , Cabeça/anormalidades , Criança , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Craniotomia/métodos , Feminino , Cabeça/diagnóstico por imagem , Humanos , Imageamento Tridimensional , Lactente , Recém-Nascido , Masculino , Fotografação , Cuidados Pré-Operatórios/métodos , Estudos Retrospectivos , Crânio/anormalidades , Crânio/diagnóstico por imagem
11.
Genes Cells ; 24(10): 642-649, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31365163

RESUMO

Mammalian CEP55 (centrosomal protein 55 kDa) is a coiled-coil protein localized to the centrosome in interphase cells and is required for cytokinesis. A homozygous non-sense mutation in human CEP55 has been recently identified in perinatal lethal MARCH (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly) syndrome. We have isolated zebrafish cep55 mutants defective in head morphology. The zebrafish cep55 gene was expressed in the head including the retina and the pectoral fin at 1 day post-fertilization (dpf), and extensive cell death was widely observed in the head and tail of the cep55 mutant. In the cep55 mutant, the anterior-posterior distance of the ventral pharyngeal arches was short, and retinal lamination was disorganized. Neural cells, such as islet1-positive cells and pax2-positive cells, and fli1b-positive vascular cells were reduced in the head of the cep55 mutant. Thus, we propose that the zebrafish cep55 mutant is a model organism for human MARCH syndrome.


Assuntos
Proteínas de Ciclo Celular/genética , Proteínas Nucleares/genética , Proteínas de Peixe-Zebra/genética , Peixe-Zebra/embriologia , Animais , Proteínas de Ciclo Celular/metabolismo , Centrossomo/metabolismo , Citocinese/genética , Cabeça/anormalidades , Cabeça/embriologia , Mutação , Proteínas Nucleares/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo , Peixe-Zebra/anormalidades , Peixe-Zebra/genética , Proteínas de Peixe-Zebra/metabolismo
12.
Toxins (Basel) ; 11(5)2019 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-31071948

RESUMO

Aflatoxin B1 (AFB1) is a widespread contaminant of grains and other agricultural crops and is globally associated with both acute toxicity and carcinogenicity. In the present study, we utilized nuclear magnetic resonance (NMR), and specifically high-resolution magic angle spin (HRMAS) NMR, coupled to the zebrafish (Danio rerio) embryo toxicological model, to characterize metabolic profiles associated with exposure to AFB1. Exposure to AFB1 was associated with dose-dependent acute toxicity (i.e., lethality) and developmental deformities at micromolar (≤ 2 µM) concentrations. Toxicity of AFB1 was stage-dependent and specifically consistent, in this regard, with a role of the liver and phase I enzyme (i.e., cytochrome P450) bioactivation. Metabolic profiles of intact zebrafish embryos exposed to AFB1 were, furthermore, largely consistent with hepatotoxicity previously reported in mammalian systems including metabolites associated with cytotoxicity (i.e., loss of cellular membrane integrity), glutathione-based detoxification, and multiple pathways associated with the liver including amino acid, lipid, and carbohydrate (i.e., energy) metabolism. Taken together, these metabolic alterations enabled the proposal of an integrated model of the hepatotoxicity of AFB1 in the zebrafish embryo system. Interestingly, changes in amino acid neurotransmitters (i.e., Gly, Glu, and GABA), as a key modulator of neural development, supports a role in recently-reported neurobehavioral and neurodevelopmental effects of AFB1 in the zebrafish embryo model. The present study reinforces not only toxicological pathways of AFB1 (i.e., hepatotoxicity, neurotoxicity), but also multiple metabolites as potential biomarkers of exposure and toxicity. More generally, this underscores the capacity of NMR-based approaches, when coupled to animal models, as a powerful toxicometabolomics tool.


Assuntos
Aflatoxina B1/toxicidade , Embrião não Mamífero/efeitos dos fármacos , Metaboloma/efeitos dos fármacos , Peixe-Zebra/metabolismo , Animais , Embrião não Mamífero/anormalidades , Embrião não Mamífero/metabolismo , Cabeça/anormalidades , Fígado/efeitos dos fármacos , Fígado/metabolismo , Espectroscopia de Ressonância Magnética , Síndromes Neurotóxicas/metabolismo , Cauda/anormalidades , Peixe-Zebra/anormalidades , Peixe-Zebra/embriologia
13.
Ann Plast Surg ; 83(1): 73-77, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31135509

RESUMO

We report a rare case of a 37-year-old man who presented with a huge arteriovenous malformation in the head and neck region. After resection, the 30 × 25 cm defect was reconstructed with a preexpanded musculocutaneous latissimus dorsi flap. The facial nerve had to be sacrificed during the resection, and smile reanimation was restored in a second operation with the contralateral latissimus muscle flap. A 15-cm length of thoracodorsal nerve was dissected and was anastomosed to the contralateral zygomatic branch in a single stage. He recovered well without any significant complications. At 6 years follow-up, there was no further growth of the arteriovenous malformation, and he had a spontaneous smile.


Assuntos
Malformações Arteriovenosas/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Músculos Superficiais do Dorso/transplante , Retalhos Cirúrgicos/transplante , Cicatrização/fisiologia , Adulto , Malformações Arteriovenosas/diagnóstico por imagem , Estética , Expressão Facial , Cabeça/anormalidades , Cabeça/cirurgia , Humanos , Angiografia por Ressonância Magnética/métodos , Masculino , Pescoço/anormalidades , Pescoço/cirurgia , Prognóstico , Índice de Gravidade de Doença , Retalhos Cirúrgicos/irrigação sanguínea , Resultado do Tratamento
14.
Lymphat Res Biol ; 17(5): 504-511, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30985248

RESUMO

Background: Mechanistic target of rapamycin (mTOR) inhibitors are being used off-label showing promising results in patients with vascular anomalies. Children with lymphatic malformations (LMs) involving the airway benefit from sirolimus therapy soon after birth, reducing the need of tracheostomy. Available information about efficacy and side effects in neonates remains poor. We present seven newborns with severe head and neck LM showing response to sirolimus with no significant toxicity. Methods and Results: We performed a retrospective review of neonates with head and neck LM who received sirolimus between January 2014 and May 2018 with upper airway involvement needing ventilatory support. We analyzed type of LM, involved anatomical area, symptoms and response to sirolimus, including dosage, blood levels, response, side effects, and complications. Seven neonates received primary treatment with sirolimus in the context of cervical LM. Sirolimus was started at the recommended dose of 0.8 mg/m2/12 h and adjusted to maintain blood levels between 4 and 12 ng/mL. Median follow-up was 32 months (4-43) with a median treatment duration of 12 months (3-43). One patient had complete resolution of the malformation, one had complete resolution of symptoms, and five had partial resolution of the malformation with significant improvement in their respiratory conditions. Two patients required additional subtotal surgical resection and one tracheostomy. Four patients remain under treatment. Toxicity was not observed. Conclusions: Sirolimus is a safe drug in neonates and can be considered the first therapeutical option in newborns at high risk of respiratory failure before sclerosis or surgery. Close follow-up is mandatory to identify side effects at long-term use.


Assuntos
Anormalidades Linfáticas/tratamento farmacológico , Sirolimo/administração & dosagem , Malformações Vasculares/tratamento farmacológico , Administração Oral , Terapia Combinada , Feminino , Cabeça/anormalidades , Cabeça/irrigação sanguínea , Humanos , Recém-Nascido , Anormalidades Linfáticas/diagnóstico , Anormalidades Linfáticas/etiologia , Imageamento por Ressonância Magnética , Masculino , Pescoço/anormalidades , Pescoço/irrigação sanguínea , Fenótipo , Estudos Retrospectivos , Resultado do Tratamento , Malformações Vasculares/diagnóstico , Malformações Vasculares/etiologia
15.
Medwave ; 19(4): e7622, 2019.
Artigo em Inglês, Espanhol | LILACS | ID: biblio-997879

RESUMO

MOMO es un acrónimo para los términos macrosomía, obesidad, macrocefalia y anomalías oculares. El síndrome fue descrito por primera vez en 1993, con un total de nueve pacientes publicados a la fecha. Todos los casos reportaron discapacidad intelectual y en un caso se describió a un paciente con autismo. Presentamos un nuevo caso de paciente con síndrome de MOMO que consultó por fenómenos alucinatorios. Se completó una evaluación neuropsicológica, clínica y cognitiva, en donde se demostró un cociente intelectual limítrofe y se corroboraron los criterios para trastorno del espectro autista. Ésta es la primera evaluación neurocognitiva de un paciente con MOMO, la que apoya el uso de escalas estandarizadas a fin de evaluar el autismo y otras comorbilidades psiquiátricas en pacientes con síndromes genéticos.


MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was described. We present a new case of a patient with MOMO syndrome, who consulted for hallucinatory phenomena. He completed a neuropsychological, clinical and cognitive evaluation, showing a borderline intelligence quotient and fulfilled the criteria for autism spectrum disorder. This is the first neurocognitive evaluation of a patient with MOMO, supporting the use of standardized scales in order to assess the autism and other psychiatric comorbidities in patients with genetics syndromes.


Assuntos
Humanos , Masculino , Adolescente , Transtorno Autístico/diagnóstico , Anormalidades Múltiplas/psicologia , Macrossomia Fetal/psicologia , Coloboma/psicologia , Cognição/fisiologia , Megalencefalia/psicologia , Cabeça/anormalidades , Deficiência Intelectual/psicologia , Obesidade/psicologia
16.
Sci Rep ; 8(1): 17134, 2018 11 20.
Artigo em Inglês | MEDLINE | ID: mdl-30459452

RESUMO

Chondroitin sulfate (CS) proteoglycan is a major component of the extracellular matrix and plays an important part in organogenesis. To elucidate the roles of CS for craniofacial development, we analyzed the craniofacial morphology in CS N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice. T1KO mice showed the impaired intramembranous ossification in the skull, and the final skull shape of adult mice included a shorter face, higher and broader calvaria. Some of T1KO mice exhibited severe facial developmental defect, such as eye defects and cleft lip and palate, causing embryonic lethality. At the postnatal stages, T1KO mice with severely reduced CS amounts showed malocclusion, general skeletal dysplasia and skin hyperextension, closely resembling Ehlers-Danlos syndrome-like connective tissue disorders. The production of collagen type 1 was significantly downregulated in T1KO mice, and the deposition of CS-binding molecules, Wnt3a, was decreased with CS in extracellular matrices. The collagen fibers were irregular and aggregated, and connective tissues were dysorganized in the skin and calvaria of T1KO mice. These results suggest that CS regulates the shape of the craniofacial skeleton by modulating connective tissue organization and that the remarkable reduction of CS induces hypoplasia of intramembranous ossification and cartilage anomaly, resulting in skeletal dysplasia.


Assuntos
Anormalidades Craniofaciais/etiologia , Cabeça/anormalidades , N-Acetilgalactosaminiltransferases/genética , Animais , Animais Recém-Nascidos , Cartilagem/patologia , Sulfatos de Condroitina/metabolismo , Colágeno/genética , Colágeno/metabolismo , Anormalidades Craniofaciais/genética , Síndrome de Ehlers-Danlos/etiologia , Feminino , Cabeça/embriologia , Camundongos Knockout , N-Acetilgalactosaminiltransferases/metabolismo , Osteocondrodisplasias/etiologia , Osteogênese/genética , Gravidez , Proteína Wnt3A/genética , Proteína Wnt3A/metabolismo
17.
Curr Opin Otolaryngol Head Neck Surg ; 26(5): 334-339, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30074517

RESUMO

PURPOSE OF REVIEW: The aim of this study was to review recent literature on the use of pediatric free flap reconstruction for head and neck defects with focus on skull base, congenital deformities, mandibular reconstruction and operative considerations. RECENT FINDINGS: Reconstruction of the skull base depends on the defect size, location, bony involvement, and pedicle length with a variety of flaps to choose from. Free flaps may be used to correct congenital anomalies due to facial clefts and syndromic causes requiring bony and tissue bulk. Preservation of the condyle together with free flap mandibular reconstruction has better growth potential. Delayed repair of mandibular defects may be an option especially for patients with malignancy. Chemotherapy and radiation therapy may inhibit the growth potential of the mandible. The use of running or coupled arterial anastomosis is associated with an increased immediate complication. SUMMARY: Pediatric free flap reconstruction is a reasonable option for various head and neck defects such as skull base, congenital, and mandibular defects.


Assuntos
Retalhos de Tecido Biológico/irrigação sanguínea , Retalhos de Tecido Biológico/cirurgia , Cabeça/cirurgia , Pescoço/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Ferimentos e Lesões/cirurgia , Criança , Cabeça/anormalidades , Humanos , Ferimentos e Lesões/etiologia
18.
Neurotoxicol Teratol ; 68: 84-90, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29883744

RESUMO

Use of Cannabis and use of tobacco overlap, and co-use of Cannabis and tobacco has increased over the past decade among adults. The current study aims to document the prevalence and correlates of co-use of Cannabis and tobacco cigarettes among adult pregnant women utilizing secondary data from a larger study that compared and validated screeners for illicit and prescription drug use during pregnancy. Pregnant women (N = 500; 71% African American; 65% never married, average age of 28 years) were recruited from two urban University obstetric clinics between January and December 2017. Participants self-reported demographic, Cannabis, and tobacco cigarette use characteristics, and provided urine and hair samples for drug testing. Within two weeks after due date, research staff reviewed participants' electronic medical records to collect birth outcome data. Results showed that 9.0% reported co-use of Cannabis and tobacco, 12.1% reported Cannabis only use, 7.8% reported tobacco cigarette only use, and 71.1% reported no Cannabis or tobacco cigarette use in the past month. The birth outcomes to emerge as significant correlates of co-use of Cannabis and tobacco cigarettes were small head circumference, and the occurrence of birth defects, with the co-use group having the highest odds of a small head circumference [aOR: 5.7 (1.1-28.9)] and birth defects [aOR: 3.1 (1.2-8.3)] compared with other use groups. The Cannabis only group had 12 times higher odds of a stillbirth or miscarriage (aOR = 12.1). Screening and interventions to address concurrent Cannabis and tobacco use during pregnancy are needed, particularly among subpopulations with higher co-use rates. It is imperative to further explore and highlight the possible health implications of maternal co-use given the high prevalence rates found in this study sample.


Assuntos
Cannabis/toxicidade , Fumar Maconha/epidemiologia , Nicotiana/toxicidade , Resultado da Gravidez , Fumar/epidemiologia , Aborto Espontâneo/epidemiologia , Adulto , Comorbidade , Interações Medicamentosas , Feminino , Cabelo/metabolismo , Cabeça/anormalidades , Humanos , Fumar Maconha/metabolismo , Fumar Maconha/urina , Maryland/epidemiologia , Gravidez , Prevalência , Fumar/metabolismo , Fumar/urina , Natimorto/epidemiologia , Adulto Jovem
19.
Sultan Qaboos Univ Med J ; 18(1): e88-e92, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29666687

RESUMO

Head and neck masses can present in different pathologies that usually vary according to the age of the patient. We report five cases of benign head or neck masses occurring among patients of different ages who were managed at the Bahrain Defence Force Royal Medical Services Hospital, Ar-Rifaa, Bahrain, between 2005-2014. All of the patients were treated using the sclerotherapeutic agent OK-432. Although surgical removal is usually considered optimal treatment in the management of such cases, OK-432 appears to be a promising alternative.


Assuntos
Cistos/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Picibanil/farmacologia , Adulto , Barein , Pré-Escolar , Feminino , Cabeça/anormalidades , Cabeça/patologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Pescoço/anormalidades , Pescoço/patologia , Pescoço/fisiopatologia , Picibanil/uso terapêutico , Escleroterapia/métodos
20.
J Craniomaxillofac Surg ; 46(6): 953-957, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29680682

RESUMO

PURPOSE: The positional non-synostotic plagiocephaly represents a cranial asymmetry affecting all 3 dimensions. The aim of this study was to evaluate volumetric indices to assess the efficiency in improving non-synostotic cranial asymmetries in treatment with head orthoses. MATERIAL AND METHODS: A total of 96 infants were included in this observational retrospective study. The cohort was further divided into subgroups according to age of helmet supply (younger/older than 7.5 months) and duration of therapy (less/more than 150 days). With 3-dimensional photogrammetry data sets, the skull volume was separated into quadrants and set in relation to each other to create an Anterior Cranial Asymmetry Index (ACAI) and a Posterior Cranial Asymmetry Index (PCAI) as 3-dimensional parameters. RESULTS: Treatment with head orthoses led to a significant reduction of ACAI (p < 0.0001) and PCAI (p = 0.001). Cranial asymmetry was more severe in the occipital region and significantly improved mainly during the first 75 days with a 40.08% decrease of PCAI value in the short-term therapy in the younger treatment subgroup (p = 0.003). CONCLUSIONS: The introduced parameters sufficiently reproduce the improvement of asymmetry during helmet therapy, following the trend of already established parameters. Asymmetry was significantly improved in the occiput region, and helmet therapy was highly effective in younger infants and in the early treatment period.


Assuntos
Cabeça/anormalidades , Imageamento Tridimensional/métodos , Aparelhos Ortopédicos , Plagiocefalia não Sinostótica/diagnóstico por imagem , Plagiocefalia não Sinostótica/terapia , Crânio/anormalidades , Estudos de Coortes , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/terapia , Assimetria Facial , Dispositivos de Proteção da Cabeça , Humanos , Processamento de Imagem Assistida por Computador/métodos , Lactente , Fotogrametria/métodos , Plagiocefalia/diagnóstico por imagem , Plagiocefalia/terapia , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA