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1.
J AAPOS ; 28(2): 103833, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38360349

RESUMO

Improving access to comfortable and well-fitting glasses for children with craniofacial differences may improve their visual outcomes. The purpose of this study was to describe challenges in spectacle fitting facing patients with frontonasal dysplasia and to report successful methods for creating custom 3D designed glasses. Additionally, the process of systematically collecting and analyzing spectacle-fitting challenges can inform future processes of automated design of 3D printed glasses and can be applied to other specific craniofacial syndromes.


Assuntos
Anormalidades Craniofaciais , Óculos , Criança , Humanos , Face , Anormalidades Craniofaciais/terapia
2.
Regen Med ; 18(6): 487-504, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37199189

RESUMO

Abnormal craniofacial bone fusion can lead to the generation of several congenital malformations such as cleft palate, craniosynostosis and craniofacial skeletal hypoplasia, which physically and mentally affect patients. Conventional approaches for the treatment of craniofacial malformations such as the transplantation of autologous bone grafts are not completely efficient and usually, patients suffer from various complications. In line with these statements, the advent of novel therapeutic approaches in human medicine is mandatory. Regarding the extent, size and severity of the bone malformation, supplementation and release of oxygen molecules into the affected sites are critical issues for successful osteogenesis. Here, tissue engineering modalities associated with oxygen supplementation and novel approaches associated with hydrogel synthesis were highlighted in terms of craniofacial malformations.


Craniofacial anomalies are a group of conditions that can affect a person's head and facial tissue, mostly bones. These abnormalities can be categorized from mild to severe and commonly include the separation in the lip and the palate (cleft palate), the early joining of the baby's skull bone (craniosynostosis) and problems with the lower jawbone (mandibular defects). Several surgical methods are available to treat these abnormalities, which are invasive and have many disadvantages. In this review, we discuss new treatments in regenerative medicine as well as the importance factors of such as oxygen delivery in these methods. The provision of oxygen plays a key role in the growth of new blood vessels, cellular growth and bone tissue reconstruction.


Assuntos
Doenças Ósseas , Fissura Palatina , Anormalidades Craniofaciais , Humanos , Engenharia Tecidual , Fissura Palatina/terapia , Anormalidades Craniofaciais/terapia , Osteogênese
3.
Cleft Palate Craniofac J ; 60(3): 313-318, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35130100

RESUMO

To evaluate orthodontic care for patients with craniofacial anomalies (CFA) by identifying orthodontic residents' preparedness to treat certain conditions and willingness to receive more training in CFA.A 12-question survey was sent through the American Association of Orthodontics (AAO) organization to orthodontic residents. Questions were primarily designed to obtain information on the frequency with which they dealt with patients with CFA in their training, specific craniofacial conditions that orthodontic residents feel comfortable treating.A total of 150 participants out of 1066 responded. Of the 150 responses, 35% were first-year residents, 43% second year, and 22% were third-year residents. Thirty nine percent of residents saw 3 or more CFA patients during their residency followed by 24% that saw no patients with CFA. Forty five percent reported that 1 to 3 hours of lecture time was devoted to CFA per month. Sixty percent felt their training in CFA was not sufficient to feel comfortable treating these patients in practice. Specifically, 62% felt comfortable treating Down syndrome, 84% unilateral cleft lip and/or palate, and 64% bilateral cleft lip and/or palate, while the majority did not feel comfortable treating Pierre Robin sequence (68%), Cleidocranial dysplasia (65%), Crouzon syndrome (75%), Pfeiffer syndrome (80%), Treacher Collins syndrome (76%), Apert syndrome (76%), CHARGE syndrome (84%), and DiGeorge sequence (84%). Seventy eight percent of residents reported that they would like more training in treating craniofacial.Orthodontic residents did not feel comfortable treating patients with CFA. Majority of the residents felt that they would like to learn more about CFA.


Assuntos
Fenda Labial , Fissura Palatina , Anormalidades Craniofaciais , Internato e Residência , Ortodontia , Humanos , Estados Unidos , Fenda Labial/terapia , Fissura Palatina/terapia , Anormalidades Craniofaciais/terapia
4.
Cleft Palate Craniofac J ; 59(10): 1299-1305, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-34414809

RESUMO

INTRODUCTION: The defects found in Tessier clefts number 3 and number 4 come in various forms in different patients. These variations have to a great extent affected not only documentation of these craniofacial defects but invariably their treatment and communication amongst craniofacial researchers. This study has not only documented the clinical presentation of these clefts in a South African population but has also incorporated the clinical presentation of Tessier clefts number 3 and 4 from different regions of the world. METHODS: The records of 8 patients, who had been treated for either Tessier clefts number 3 or 4, were reviewed and compared with 16 studies pulled from the literature systematically. The defects recorded as well as associated clefts and other congenital malformations were documented, and findings were compared. RESULTS: The anatomical and clinical presentation of the patients was compared to the reviewed literature and the different parameters were documented. In addition, associated clefts were also recorded in the study-it was noted that the association pattern recorded in Tessier cleft number 4 in this study did not conform to its traditional counterpart. CONCLUSION: This study concluded that the clinical presentations of these clefts, however variable, seem to have a similar presentation worldwide. Additionally, associated clefts do not conform to the original Tessier classification system and therefore it is imperative for these patterns to be clearly mapped out.


Assuntos
Anormalidades Craniofaciais , Anormalidades Craniofaciais/terapia , Humanos , África do Sul/epidemiologia
5.
J Craniofac Surg ; 33(1): 11-14, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34320587

RESUMO

ABSTRACT: A European guideline on craniofacial microsomia was developed within the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose, and throat disorders and published in 2020. The guideline provides an overview of optimal care provisions for patients with craniofacial microsomia and recommendations for the improvement of care. This document seeks to provide a tailored overview of this guideline for patients and their families.


Assuntos
Anormalidades Craniofaciais , Síndrome de Goldenhar , Anormalidades Craniofaciais/terapia , Humanos , Guias de Prática Clínica como Assunto
6.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-33431460

RESUMO

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.


Assuntos
Anormalidades Craniofaciais/complicações , Assistência Odontológica para Crianças/métodos , Hipoplasia do Esmalte Dentário/terapia , Anormalidades do Olho/complicações , Deformidades Congênitas do Pé/complicações , Sindactilia/complicações , Anormalidades Dentárias/complicações , Anestesia Geral , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/terapia , Coroas , Assistência Odontológica para Crianças/efeitos adversos , Assistência Odontológica para Crianças/instrumentação , Esmalte Dentário/diagnóstico por imagem , Hipoplasia do Esmalte Dentário/diagnóstico , Hipoplasia do Esmalte Dentário/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Anormalidades do Olho/terapia , Feminino , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/terapia , Humanos , Dor Processual/etiologia , Dor Processual/prevenção & controle , Linhagem , Selantes de Fossas e Fissuras , Radiografia Dentária , Sindactilia/diagnóstico , Sindactilia/genética , Sindactilia/terapia , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética , Anormalidades Dentárias/terapia , Dente Decíduo/diagnóstico por imagem
7.
Arch Dis Child Fetal Neonatal Ed ; 106(1): 104-109, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32409560

RESUMO

Infants with craniofacial malformations (CFMs) are at increased risk of various clinical problems, including respiratory and feeding disorders, the result of which may be long-lasting. An improvement in clinical care can be achieved by prenatal diagnosis and interdisciplinary birth preparation. Feeding problems may particularly be stressful for the family and require a team approach involving nursing staff, speech therapists and nutritional specialists to anticipate, avoid and treat sequelae such as failure to thrive or recurrent aspirations. Special techniques (eg, optimisation of breast feeding, alternative feeding methods or manual orofacial therapy) may be used individually to improve feeding competence; supplemental nutrition via a nasogastric or gastrostomy tube may be temporarily necessary to ensure adequate weight gain. The high prevalence of respiratory disorders in infants with craniofacial abnormalities requires anticipation and screening to prevent growth failure and neurological deficits. Treatment of upper airway obstruction varies widely, strategies can be divided into non-surgical and surgical, and in those aimed at widening the pharyngeal space (eg, prone position, palatal plates, craniofacial surgery) and those bridging the narrow upper airway (eg, nasopharyngeal airway, modified palatal plate, pneumatic airway stenting, tracheostomy). The complex management of an infant with CFM should be performed by a multidisciplinary team to offer specialised support and care for affected families.


Assuntos
Anormalidades Craniofaciais/terapia , Métodos de Alimentação/efeitos adversos , Métodos de Alimentação/psicologia , Doenças Respiratórias/prevenção & controle , Aleitamento Materno/psicologia , Anormalidades Craniofaciais/cirurgia , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/prevenção & controle , Humanos , Recém-Nascido , Doenças Respiratórias/epidemiologia
8.
Plast Surg Nurs ; 40(4): 236-243, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33259425

RESUMO

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.


Assuntos
Anormalidades Craniofaciais/terapia , Acesso aos Serviços de Saúde/normas , Hispânico ou Latino/psicologia , Anormalidades Craniofaciais/psicologia , Custos de Cuidados de Saúde/normas , Custos de Cuidados de Saúde/estatística & dados numéricos , Acesso aos Serviços de Saúde/estatística & dados numéricos , Hispânico ou Latino/estatística & dados numéricos , Humanos , Relações Profissional-Paciente , Apoio Social , Estados Unidos
9.
Nat Commun ; 11(1): 3025, 2020 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-32541821

RESUMO

Approximately 10% of fractures will not heal without intervention. Current treatments can be marginally effective, costly, and some have adverse effects. A safe and manufacturable mimic of anabolic bone is the primary goal of bone engineering, but achieving this is challenging. Mesenchymal stem cells (MSCs), are excellent candidates for engineering bone, but lack reproducibility due to donor source and culture methodology. The need for a bioactive attachment substrate also hinders progress. Herein, we describe a highly osteogenic MSC line generated from induced pluripotent stem cells that generates high yields of an osteogenic cell-matrix (ihOCM) in vitro. In mice, the intrinsic osteogenic activity of ihOCM surpasses bone morphogenic protein 2 (BMP2) driving healing of calvarial defects in 4 weeks by a mechanism mediated in part by collagen VI and XII. We propose that ihOCM may represent an effective replacement for autograft and BMP products used commonly in bone tissue engineering.


Assuntos
Osteogênese , Células-Tronco Pluripotentes/citologia , Animais , Proteína Morfogenética Óssea 2/genética , Proteína Morfogenética Óssea 2/metabolismo , Proliferação de Células , Células Cultivadas , Colágeno Tipo VI/genética , Colágeno Tipo VI/metabolismo , Colágeno Tipo XII/genética , Colágeno Tipo XII/metabolismo , Anormalidades Craniofaciais/fisiopatologia , Anormalidades Craniofaciais/terapia , Humanos , Células-Tronco Mesenquimais/citologia , Células-Tronco Mesenquimais/metabolismo , Camundongos , Células-Tronco Pluripotentes/metabolismo , Células-Tronco Pluripotentes/transplante , Engenharia Tecidual
11.
J Craniofac Surg ; 31(4): e362-e368, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32371695

RESUMO

The purpose of this retrospective study was to assess the genetic and phenotypic features of patients with craniofrontonasal syndrome (CFNS), and the implications of the condition for multidisciplinary management.The subjects were 25 female patients with a mutation of EFNB1, who presented to the Oxford Craniofacial Unit during a 38-year period. Medical records were reviewed for genetic and phenotypic information. Mean duration of follow-up was 12.6 years (range 0-30.7 years).This study examines neurodevelopment in constituent parts, with specific reference to speech, language, and cognition in relation to genotype. Three children had deletions extending beyond the EFNB1 gene; the 2 with available data presented with speech, language, or cognitive delay. The remaining 25 patients had intragenic mutations of EFNB1. Of these 25, those assessed in detail showed variable difficulties with speech and language development; 57% had receptive language difficulties (n = 4/7) and 88% had expressive language difficulties (n = 8/9). 55% presented with speech difficulties (n = 6/11). 2/3 patients with abnormal hearing had speech difficulties; 4/5 with normal hearing had normal speech development. Cognitive assessments indicated that IQ is variable; with full scale IQ ranging from 69 to 100.The complex, multifactorial presentation of patients with CFNS contributed to 41% (n = 7/17) of patients requiring additional educational support.Our results demonstrated significant multidisciplinary input is required, including Speech and Language Therapy, Plastic and Reconstructive Surgery, Genetics, Ear, Nose and Throat, Maxillofacial, Orthodontic, Orthopaedic, Clinical Psychology and Orthoptic teams. The results of this study reinforce the importance of multi-disciplinary long-term follow-up of children with CFNS.


Assuntos
Anormalidades Craniofaciais , Adolescente , Adulto , Criança , Pré-Escolar , Cognição , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/terapia , Efrina-B1/genética , Feminino , Humanos , Lactente , Recém-Nascido , Desenvolvimento da Linguagem , Masculino , Mutação , Estudos Retrospectivos , Distúrbios da Fala/terapia , Fonoterapia , Adulto Jovem
12.
Plast Surg Nurs ; 40(2): 73-80, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32459754

RESUMO

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.


Assuntos
Anormalidades Craniofaciais/terapia , Acesso aos Serviços de Saúde/normas , Hispânico ou Latino/estatística & dados numéricos , Anormalidades Craniofaciais/epidemiologia , Anormalidades Craniofaciais/etnologia , Relações Familiares/etnologia , Relações Familiares/psicologia , Acesso aos Serviços de Saúde/estatística & dados numéricos , Humanos , Meio-Oeste dos Estados Unidos/etnologia , Apoio Social , Fatores Socioeconômicos
13.
Adv Exp Med Biol ; 1236: 137-155, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32304072

RESUMO

The formation of the head and face is a complex process which involves many different signaling cues regulating the migration, differentiation, and proliferation of the neural crest. This highly complex process is very error-prone, resulting in craniofacial defects in nearly 10,000 births in the United States annually. Due to the highly conserved mechanisms of craniofacial development, animal models are widely used to understand the pathogenesis of various human diseases and assist in the diagnosis and generation of preventative therapies and treatments. Here, we provide a brief background of craniofacial development and discuss several rare diseases affecting craniofacial bone development. We focus on rare congenital diseases of the cranial bone, facial jaw bones, and two classes of diseases, ciliopathies and RASopathies. Studying the animal models of these rare diseases sheds light not only on the etiology and pathology of each disease, but also provides meaningful insights towards the mechanisms which regulate normal development of the head and face.


Assuntos
Anormalidades Craniofaciais , Modelos Animais de Doenças , Cabeça/embriologia , Animais , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/prevenção & controle , Anormalidades Craniofaciais/terapia , Face/embriologia , Humanos , Crista Neural/embriologia , Crânio/embriologia
14.
Ann Otol Rhinol Laryngol ; 129(7): 645-648, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32100546

RESUMO

OBJECTIVES: To discuss the presentation and management of infants with arhinia or congenital absence of the nose. METHODS: This case report describes an infant with arhinia that was diagnosed prenatally. In addition to a discussion of the case, a review of the literature was completed to define appropriate postnatal work-up and management. RESULTS: The patient is a term male infant, diagnosed with arhinia on ultrasound and magnetic resonance imaging (MRI) performed at 21-weeks gestational age. Upon birth, the patient was subsequently intubated, followed by tracheostomy due to complete nasal obstruction. Through a genetics evaluation, the patient was found to be heterozygous for the SMCHD1 gene, with hypomethylation at the D4Z4 locus. Plans for reconstruction will be based on future imaging and the development of any nasal patency, however, the patient's family plans to utilize a prosthetic nose until the patient is older. CONCLUSION: Arhinia is a rare condition causing respiratory distress in the neonatal period. While stabilization of the airway is the first priority, further management is not clearly defined given the rarity of the malformation. This case discusses stabilization of the airway with a review of treatment and reconstructive options.


Assuntos
Anormalidades Craniofaciais/diagnóstico por imagem , Nariz/anormalidades , Manuseio das Vias Aéreas , Proteínas Cromossômicas não Histona/genética , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/terapia , Gerenciamento Clínico , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto , Nariz/diagnóstico por imagem , Diagnóstico Pré-Natal , Próteses e Implantes , Procedimentos de Cirurgia Plástica , Tomografia Computadorizada por Raios X , Traqueostomia , Ultrassonografia Pré-Natal
15.
Int J Pediatr Otorhinolaryngol ; 128: 109724, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31678623

RESUMO

BACKGROUND: In this retrospective study, we compare the safety and efficacy of surgery combined with bleomycin intra-operatively with intralesional sclerotherapy alone for the management of head and neck lymphatic malformations in children. MATERIALS AND METHODS: The patients with cervical-facial lymphatic malformations were reviewed in Shanghai Children's Hospital from August 2014 to August 2018. Data analysis was performed using SPSS17.0. Pearson X2 test and t-test were used, and the significance level was fixed at 5%. RESULTS: 72 patients in all of which 63 patients underwent surgical excision combined with bleomycin irrigation and 9 patients underwent sclerotherapy alone as the primary treatment. The surgical excision group had a significantly higher rate of an excellent response compare to the sclerotherapy group (P < 0.05). In regards to postoperative complications, the surgical group had no higher rate of temporal facial paralysis and other nerve injures compare to the sclerotherapy group (P = 0.624). CONCLUSIONS: we recommend surgery combined with Bleomycin for microcystic disease with focal and less infiltrative lesions and for lesions located in the oropharynx, parapharynx, retropharynx, or hypopharynx.


Assuntos
Bleomicina/administração & dosagem , Anormalidades Craniofaciais/terapia , Anormalidades Linfáticas/terapia , Soluções Esclerosantes/administração & dosagem , Escleroterapia , Irrigação Terapêutica , Adolescente , Criança , Pré-Escolar , Terapia Combinada , Feminino , Humanos , Lactente , Recém-Nascido , Cuidados Intraoperatórios , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos
16.
J Pediatr Hematol Oncol ; 42(3): 198-203, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31851070

RESUMO

Rapid blood cell turnover and bone marrow expansion caused by beta-thalassemia (ßT) result in craniofacial and dentoalveolar anomalies. This report presents a systematic review of the literature over the past 50 years on orthodontic and surgical considerations in the management of ßT-affected patients. Seventeen publications encompassed 24 patients, 11 male individuals and 13 female individuals, 7 to 43 years of age. Eleven patients underwent only surgical treatment, eleven combined orthodontic-surgical treatment, and 2 orthodontic treatment. Surgical treatment primarily addressed typical maxillary overgrowth by maxillary reshaping, premaxillary segmental repositioning, or complete Le Fort I impaction and set back osteotomy. In severe maxilla-mandibular discrepancy and/or increased lower facial height, a bilateral sagittal split mandibular osteotomy is the treatment of choice. Although surgery involves risks of excessive bleeding, morbidity, and impaired nasal esthetics, little attention is given to the orthodontic modality. In conclusion, the current literature recommends early interceptive orthodontics aimed to decrease dentoskeletal deformities, severe malocclusion, and soft tissue imbalance. Treatment includes maxillo-mandibular orthopedic and functional manipulation with dentoalveolar treatment, which might either prevent orthosurgical procedures later or reduce its extent. This suggested a multidisciplinary approach comprising a hematologist, a pediatrician, a pediatric dentist, and an orthodontist, which might also significantly improve the patient's quality of life.


Assuntos
Anormalidades Craniofaciais/etiologia , Anormalidades Craniofaciais/terapia , Ortodontia Corretiva/métodos , Procedimentos Ortopédicos/métodos , Talassemia beta/complicações , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Má Oclusão/etiologia , Má Oclusão/terapia , Adulto Jovem
17.
Medicine (Baltimore) ; 98(39): e17324, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31574866

RESUMO

BACKGROUND: This study aims to assess the efficacy and safety of orthodontic and orthognathic treatment (OOT) for patients with oral and maxillofacial deformities (OMDF) systematically. METHODS: This study will comprehensively search Cochrane Library, PubMed, EMBASE, Scopus, Web of Science, PsycINFO, Index to Nursing and Allied Health Literature, Allied and Complementary Medicine Database, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure from their inceptions to the July 1, 2019. Grey literature will be explored via searching dissertations, Google scholar and conference abstracts. Two team members will independently perform all citations, data extraction, and methodological quality. We will also utilize RevMan 5.3 Software for statistical analysis. RESULTS: This study will provide high quality evidence of OOT for OMDF. The primary outcomes consist of number of patients cured; proportion of patients healed; and time to complete healing within trial period. Secondary outcomes include quality of life (often assessed as any relevant scales, such as 36-Item Short Form Survey), costs, and complications. CONCLUSION: This study will provide evidence for judging whether OOT is effective treatment for OMDF. SYSTEMATIC REVIEW REGISTRATION: CRD42019144610.


Assuntos
Anormalidades Craniofaciais/terapia , Traumatismos Faciais/terapia , Ortodontia/métodos , Cirurgia Ortognática/métodos , Humanos , Resultado do Tratamento
18.
Distúrb. comun ; 31(3): 475-480, set. 2019. ilus
Artigo em Português | LILACS | ID: biblio-1391857

RESUMO

Objetivo: Descrever características clínicas, alterações funcionais e estruturais de complexo craniofacial de sujeito com síndrome branquio-óculo-facial. Método: Paciente de 13 anos e 3 meses, respiradora oral com perda auditiva condutiva de grau moderadamente severo em ambas as orelhas, diagnosticada com síndrome branquio-óculo-facial, apresentou: fissura labiopalatina transforame bilateral completa corrigida por labioplastia e palatoplastia primárias, assimetria facial, fístula em região anterior de palato duro, atresia maxilar transversa, dentinogênese imperfeita, trespasse horizontal negativo, oclusão Classe I de Angle e mordida aberta anterior e lateral bilateralmente, desvio severo da linha média superior para a esquerda, incisivo lateral superior permanente semi-erupcionado por vestibular do canino superior decíduo do lado esquerdo, retenção prolongada do segundo molar inferior decíduo direito, apinhamento dentário inferior, hipotonia e posicionamento inadequado de língua, ausência de vedamento labial em repouso, deglutição adaptada, alteração na mobilidade de lábios, bochechas e palato mole com escape de ar nasal na fala, caracterizando disfunção velofaríngea. Sujeitos com fissura lábiopalatina podem apresentar grande variedade de alterações na produção dos fones. Paciente apresenta crescimento deficiente da maxila que, como relatado na literatura, pode alterar o desenvolvimento do terço médio da face com repercussão na oclusão dentária, fala e formato do nariz. Conclusão: As alterações clínicas funcionais e estruturais relatadas são na maioria do complexo craniofacial, demonstrando a importância da otorrinolaringologia, fonoaudiologia e odontologia na terapêutica interdisciplinar dos pacientes com a síndrome.


Introduction: Branchio-Oculo-Facial Syndrome (BOFS) is a rare autosomal disease with variable expression, dependent on genetic mutations, whose phenotype is characterized by ocular, hearing and craniofacial alterations. Purpose: describe the clinical features, the functional and structural alterations in the craniofacial complex of a subject with branchio-oculo-facial syndrome. Method: A 13-year and 3-month-old girl, with moderately severe conductive bilateral hearing loss diagnosed with BOFS, presented: bilateral cleft lip and palate treated by labioplasty and palatoplasty, facial asymmetry, anterior maxillary fistula, transverse maxillary atresia, imperfect dentinogenesis, negative horizontal trespass, Angle Class I bilateral, anterior and lateral open bite on both sides, severe left superior midline deviation, eruption by vestibular of the superior canine on the left side, prolonged retention of the second inferior molar right deciduous, lower dental crowding, hypotonia and inadequate tongue positioning, absence of labial resting at rest, adapted swallowing, alteration in mobility of lips, cheeks and palate with nasal air exhaust in speech, characterizing velopharyngeal dysfunction. There are few publications of BOFS, given its rarity. Subjects with cleft lip and palate may present a wide variety of changes in the production of headphones. Patient presents deficient growth of the maxilla which, as reported in the literature, may alter the development of the middle third of the face with repercussion in dental occlusion, speech and nose shape. Conclusion: The functional and structural clinical alterations reported are the majority of the craniofacial complex, demonstrating the importance of otorhinolaryngology, speech therapy and orthodontics in the interdisciplinary therapy of patients with BOFS.


Introducción: El síndrome branquio-oculo-facial (BOFS) es una enfermedad autosómica rara con expresión variable, dependiente de las mutaciones genéticas, caracterizada por alteraciones oculares, auriculares y craneofaciales. Propósito: describir características clínicas, alteraciones funcionales y estructurales del complejo craneofacial de un sujeto con BOFS. Método: Niña de 13 años y 3 meses de edad, con pérdida de audición conductiva moderadamente grave bilateralmente diagnosticada con SBOF, presentó: paladar y labio hendido bilateral tratado por labioplastia y palatoplastia primarias, asimetría facial, fístula maxilar anterior, atresia maxilar transversal, dentinogénesis imperfecta, traspaso horizontal negativo, clase I de Angle bilateral, mordida abierta anterior y lateral bilateralmente, desviación severa de la línea media superior izquierda, erupción vestibular del canino superior del lado izquierdo, retención prolongada del segundo molar inferior derecho deciduo, apiñamiento dental, hipotonía e inadecuada colocación de la lengua, ausencia de sello labial en reposo, deglución adaptada, alteración de movilidad de labios, mejillas y velo del paladar con escape de aire nasal y disfunción velofaríngea Hay pocas publicaciones de BOFS, dada su rareza. Los sujetos con labio y paladar hendido pueden presentar una gran variedad de cambios en la producción de auriculares. El paciente presenta crecimiento deficiente del maxilar que, según se informa en la literatura, puede alterar el desarrollo del tercio medio de la cara con repercusión en la oclusión dental, habla y la forma de la nariz. Conclusión: Alteraciones clínicas funcionales y estructurales la mayoría del complejo craniofacial. Eso demuestra la importancia de otorrinolaringología, fonoaudiología y odontología en la terapia interdisciplinaria de pacientes con SBOF.;Introdução: A Síndrome Branquio-Óculo-Facial é uma doença autossômica rara com expressão variável, dependente das mutações genéticas, cujo fenótipo caracteriza-se por alterações oculares, auriculares e craniofaciais.


Assuntos
Humanos , Feminino , Adolescente , Anormalidades Craniofaciais/fisiopatologia , Síndrome Brânquio-Otorrenal/fisiopatologia , Anormalidades Craniofaciais/terapia , Síndrome Brânquio-Otorrenal/terapia , Face/fisiopatologia , Transtorno Fonológico/terapia , Má Oclusão/terapia
19.
Sleep Breath ; 23(4): 1315-1321, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31332621

RESUMO

OBJECTIVES: Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder characterized by severe multi-systemic organ manifestations including obstructive sleep apnea syndrome (OSAS). Hematopoietic stem cell transplantation (HSCT) is the treatment of choice in severe MPS I (MPS IH, Hurler syndrome). However, the effect of HSCT on OSAS in MPS IH still remains unclear. The purpose of this study was to analyze respiratory patterns during sleep following HSCT in MPS IH children and to relate these findings to craniofacial abnormalities. METHODS: Overnight polysomnographies of nine MPS IH children (mean age: 8.2 years) previously treated with HSCT were retrospectively analyzed. Magnetic resonance images of the head were assessed with regard to soft and hard tissue abnormalities of the upper respiratory tract. RESULTS: The mean apnea hypopnea index (AHI) was 5.3 events/h (range, 0.3-12.2), and the majority of apnea/hypopneas were obstructive. Whereas two patients had severe OSAS (AHI > 10) and two moderate OSAS (5 > AHI < 10), five patients had no evidence of OSAS (AHI < 2.0). Donor cell chimerism was significantly lower in MPS IH patients with OSAS as compared to patients without OSAS (p < 0.001). The upper airway space and the maxilla were significantly smaller and the adenoids larger in MPS IH patients with OSAS as compared to those of non-OSAS patients. CONCLUSION: OSAS was only observed in MPS IH patients with graft failure or low donor cell chimerism. Conversely, successful HSCT seems to ameliorate adenoid hyperplasia and maxillary constriction in MPS IH patients and thereby minimizes the risk of OSAS at least at younger ages.


Assuntos
Anormalidades Craniofaciais/terapia , Transplante de Células-Tronco Hematopoéticas , Mucopolissacaridose I/terapia , Polissonografia , Apneia Obstrutiva do Sono/terapia , Criança , Quimerismo , Anormalidades Craniofaciais/diagnóstico , Feminino , Humanos , Masculino , Mucopolissacaridose I/diagnóstico , Estudos Retrospectivos , Apneia Obstrutiva do Sono/diagnóstico , Resultado do Tratamento
20.
Development ; 146(14)2019 07 22.
Artigo em Inglês | MEDLINE | ID: mdl-31253636

RESUMO

Although it is well established that some organisms can regenerate lost structures, the ability to remodel existing malformed structures has been less well studied. Therefore, in this study we examined the ability of pre-metamorphic Xenopus laevis tadpoles to self-correct malformed craniofacial tissues. We found that tadpoles can adaptively improve and normalize abnormal craniofacial morphology caused by numerous developmental perturbations. We then investigated the tissue-level and molecular mechanisms that mediate the self-correction of craniofacial defects in pre-metamorphic X. laevis tadpoles. Our studies revealed that this adaptive response involves morphological changes and the remodeling of cartilage tissue, prior to metamorphosis. RT-qPCR and RNA-seq analysis of gene expression suggests a thyroid hormone-independent endocrine signaling pathway as the potential mechanism responsible for triggering the adaptive and corrective remodeling response in these larvae that involves mmp1 and mmp13 upregulation. Thus, investigating how malformed craniofacial tissues are naturally corrected in X. laevis tadpoles has provided valuable insights into the maintenance and manipulation of craniofacial morphology in a vertebrate system. These insights may help in the development of novel therapies for developmental craniofacial anomalies in humans.


Assuntos
Adaptação Biológica , Remodelação Óssea/efeitos dos fármacos , Anormalidades Craniofaciais/fisiopatologia , Desenvolvimento Maxilofacial/efeitos dos fármacos , Hormônios Tireóideos/farmacologia , Xenopus laevis/crescimento & desenvolvimento , Adaptação Biológica/efeitos dos fármacos , Adaptação Biológica/genética , Animais , Remodelação Óssea/genética , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Anormalidades Craniofaciais/terapia , Embrião não Mamífero , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos , Larva , Metaloproteinase 1 da Matriz/genética , Metaloproteinase 1 da Matriz/metabolismo , Metaloproteinase 13 da Matriz/genética , Metaloproteinase 13 da Matriz/metabolismo , Desenvolvimento Maxilofacial/genética , Metamorfose Biológica/efeitos dos fármacos , Metamorfose Biológica/fisiologia , Receptores dos Hormônios Tireóideos/genética , Receptores dos Hormônios Tireóideos/metabolismo , Fatores de Tempo , Xenopus laevis/embriologia
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