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1.
Khirurgiia (Mosk) ; (4): 88-94, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32352676

RESUMO

OBJECTIVE: Is to evaluate the advantage of Contractubex gel with regards to influence on vascularisation, pigmentation, thickness, surface size, configuration, and elisticity of postsurgical scars of children (after cheilorinoplasty) in comparison to absence of systematized topical treatment. MATERIAL AND METHODS: Into the prospective, non-interventional, observational, multi-centered, in parallel groups, open, controlled study were included 60 patients aged 2,5 months and older with postsurgical scars after first cheilorinoplasty after 7-14 day after operation. Patients were randomized into 2 groups of 30 patients in each. I group - patients get applications of Contractubex gel 3 times a day (in the morning, in the afternoon, in the evening) in accordance with patient information leaflet. II group - control group with no regular therapy of of postsurgical scars (without treatment or without application of oils and gels with anticsarring action). The period of medicine usage - 9 months and more for each patient, the each patient observation duration is 18 months. RESULTS: After analysis of the primary as well as secondary efficacy criteria (total grade based on POSAS scale, reported by investigator/parent) after 3, 6, 12, 18 months of observation in both groups a positive statistically significant dynamics was registered. At the same time in the Contractubex group results were statistically significantly better than in the control group. Positive dynamics was achieved quickier in the main group than in the contol group and was to observe already after 3 months of therapy, during the whole treatment and observation phase, and after 18 months of therapy. Additionally conducted photodocumentation of postsurgical scar development dynamics in terms of the study confirms positive effect of surgery and absence of visual data regarding keloids or hyperthrophic scars formation in patients in both groups. Adverse events, i. a. pain, itch, burning, long-run hyperemia were not registered during the whole period os study. CONCLUSION: The conducted study has shown high efficacy and safety of Contractubex usage for the treatment of postsurgical scars of children with with congenital cleft lip and palate (from 2,5 months old). The statistically significant advantage of the therapy with Contractubex was demonstrated in comparison with the control group (with no regular topical treatment). The obtained results allow to recommend Contractubex gel as an effective and safe medicine for the treatment of scarring after surgeries for kids directly after sutures removal.


Assuntos
Alantoína/administração & dosagem , Cicatriz/tratamento farmacológico , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Fármacos Dermatológicos/administração & dosagem , Heparina/administração & dosagem , Extratos Vegetais/administração & dosagem , Cicatriz/etiologia , Fenda Labial/complicações , Fissura Palatina/complicações , Combinação de Medicamentos , Géis/administração & dosagem , Humanos , Lactente , Complicações Pós-Operatórias/tratamento farmacológico , Estudos Prospectivos , Resultado do Tratamento
2.
Plast Reconstr Surg ; 145(3): 591e-603e, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32097323

RESUMO

The surgical techniques and execution of primary cleft lip and palate repair are no longer the greatest challenge to achieving successful rehabilitation for those born with facial clefting (i.e., bilateral and unilateral cleft lip and palate). Despite a surgeon's best efforts, when cleft palate repair is carried out during infancy, by the mixed dentition, a majority will demonstrate nasomaxillary deficiency. The cleft team's commitment to a family under their care is to ensure that the newborn reaches adulthood reconstructed without need for special regard to their original birth malformation. Guiding principles are provided for the accurate diagnosis and reliable reconstruction of the bilateral and unilateral cleft lip and palate adolescent/adult who presents with nasomaxillary deficiency and any residual oronasal fistula, bony defects, cleft dental gap(s), nasal obstructions, and associated facial dysmorphology. Successful orthognathic surgery provides a stable foundation on which any remaining soft-tissue cleft lip or cleft nasal deformities can be accurately assessed and then reconstructed.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Doenças Maxilares/cirurgia , Doenças Nasais/cirurgia , Procedimentos Cirúrgicos Ortognáticos/métodos , Procedimentos Cirúrgicos Reconstrutivos/métodos , Adolescente , Fenda Labial/complicações , Fissura Palatina/complicações , Feminino , Humanos , Lactente , Masculino , Doenças Maxilares/etiologia , Doenças Nasais/etiologia
3.
Medicine (Baltimore) ; 99(4): e18648, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31977854

RESUMO

RATIONALE: Micrognathia is a subtle facial malformation characterized by a small mandible and receding chin. Fetal micrognathia is often associated with chromosomal abnormalities, skeletal dysplasia, and various syndromes. Once it is dignosised, detailed fetal malformation screening and chromosome examination should be carried out. PATIENT CONCERN: One pregnant woman with suspicion of fetal micrognathia was referred from her local hospital to our hospital for detailed fetal malformation screening and fetal echocardiography. Examination of the fetus was performed using a two-dimensional and three-dimensional ultrasound probe in multiple planes. The fetus showed micrognathia without glossoptosis with features of the inferior facial angle (IFA) ≤50° and his tongue reached anterior mandibular border box during normal movement. DIAGNOSES: The fetus was diagnosed as isolated micrognathia prenatally without multisystem abnormalities. INTERVENTIONS: Amniocentesis was performed and the fetus was found to carry 46XN with 6q14.1 duplication, the significance of which was unclear. OUTCOMES: The fetus was labored through vagina at 38 weeks gestation. A small soft cleft palate was diagnosed after delivery. LESSONS: This case suggests that once prenatal diagnosis of the fetal micrognathia has been made, we should carefully examine the presence of fetus's multisystem developmental abnormalities and due consideration should be given for associated soft cleft palate.


Assuntos
Micrognatismo/diagnóstico , Ultrassonografia Pré-Natal/métodos , Amniocentese , Fissura Palatina/complicações , Fissura Palatina/diagnóstico , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Micrognatismo/complicações , Micrognatismo/diagnóstico por imagem , Palato Mole/anormalidades , Gravidez
4.
J Craniofac Surg ; 31(2): e133-e135, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31934976

RESUMO

Recently, several adjunctive procedures have gained traction to aid cleft surgeons in repairing especially challenging palatal clefts. Buccal fat flaps and buccal myomucosal flaps have demonstrated particular utility in reinforcing thin palatal flaps or tissue deficits. Although their use has not been widely accepted, they may be particularly helpful in the setting of significant scarring or vascular compromise. Here the authors describe the case of an intraoperative salvage using bilateral buccal fat flaps and a right buccal myomucosal flap after transection of the right Greater Palatine artery (GPA) during palatoplasty on a 14-month old female with Pierre Robin Sequence and a wide Veau II cleft palate. For this operative salvage, bilateral buccal fat flaps were used to reinforce the hard-soft palate junction and a 4 cm × 2 cm flap of the right-sided buccal mucosa and buccinator muscle was inset along the majority of the right-sided soft and posterior hard palate. At 2 years follow-up, the patient had no significant complications and was doing well with healthy-appearing palatal tissue and age-appropriate speech.


Assuntos
Artérias/cirurgia , Fissura Palatina/cirurgia , Síndrome de Pierre Robin/cirurgia , Terapia de Salvação , Artérias/diagnóstico por imagem , Bochecha/cirurgia , Fissura Palatina/complicações , Fissura Palatina/diagnóstico por imagem , Músculos Faciais/cirurgia , Feminino , Humanos , Lactente , Cuidados Intraoperatórios , Mucosa Bucal/irrigação sanguínea , Mucosa Bucal/cirurgia , Palato Duro/irrigação sanguínea , Palato Duro/cirurgia , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico por imagem , Procedimentos Cirúrgicos Reconstrutivos , Retalhos Cirúrgicos/cirurgia
5.
Eur J Orthod ; 42(1): 8-14, 2020 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-31579919

RESUMO

BACKGROUND: Children born with unilateral cleft lip and palate (UCLP) are reported to display several dental anomalies including agenesis, supernumeraries, as well as variations in dental size, shape, and path of eruption. The extensive sample of individuals with UCLP included in the Scandcleft randomized control trials offers the opportunity to study more rare conditions, which is seldom possible with limited samples. OBJECTIVES: The aim was to study dental anomalies at 8 years of age in children born with UCLP included in the Scandcleft randomized control trials. METHODS: Panoramic and intraoral radiographs from 425 individuals (279 males and 146 females) with a mean age of 8.1 years were assessed by four orthodontists regarding dental anomalies. RESULTS: Agenesis was found in 52.5 per cent and supernumerary teeth in 16.9 per cent of the participants. The cleft lateral was missing in 43.8 per cent and was found peg shaped in 44.7 per cent. The distribution of ectopic eruption was 14.6 per cent, mainly affecting maxillary first molars, while transposition was found in 3.4 per cent of the individuals. In addition, infraocclusion of one or several primary molars was registered in 7.2 per cent of the participants. CONCLUSION: We conclude that 8-year-old children born with UCLP display multiple dental anomalies. The Scandcleft sample allowed rarely studied conditions such as infraocclusion of primary molars and transposition to be studied in children born with UCLP. TRIAL REGISTRATION: ISRCTN29932826.


Assuntos
Anodontia , Fenda Labial , Fissura Palatina , Anodontia/diagnóstico por imagem , Anodontia/etiologia , Criança , Fenda Labial/complicações , Fenda Labial/cirurgia , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Feminino , Humanos , Masculino , Radiografia Panorâmica , Ensaios Clínicos Controlados Aleatórios como Assunto
6.
J Craniofac Surg ; 31(1): e50-e53, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31609945

RESUMO

Closure of large oronasal fistula (ONF) in cleft patients is a challenge for patients and surgeons. The extent of functional impairment has psychologic, social, and developmental consequences. The ONF affects the feeding and speech of patients. Keys to repairing fistulas in this region are a 2-layer, tension-free closure, and an attentive suturing technique. In this article, the details and effectiveness of 2-flap palatoplasty are presented.


Assuntos
Fissura Palatina/cirurgia , Fístula Bucal/cirurgia , Criança , Fissura Palatina/complicações , Feminino , Humanos , Fístula Bucal/etiologia , Procedimentos Cirúrgicos Reconstrutivos , Fala , Retalhos Cirúrgicos/cirurgia , Técnicas de Sutura
7.
J Plast Surg Hand Surg ; 54(1): 6-13, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31393744

RESUMO

Internationally adopted children (IAC) with a cleft lip and/or palate (CL/P) tend to arrive with un-operated palates at an age at which their Swedish-born peers have completed their primary palate surgery. Our aim of the present study was to analyze surgical, speech and hearing outcomes of IAC at age 5 and compare with those of a matched group of Swedish-born children. Fifty children with CL/P born in 1994-2005 participated in the study. Twenty-five IAC were matched according to age, sex and cleft type with 25 Swedish-born children. Audio recordings were perceptually analyzed by two experienced, blinded speech-language pathologists. Hearing and speech statuses were evaluated on the same day for all children. Surgical timing and complications as in fistulas and requirement for secondary velopharyngeal (VP) surgery, speech evaluation results, and present hearing status were analyzed for all children of age 5 years. Results showed that primary palatal surgery was delayed by a mean of 21 months in IAC. IAC had a higher prevalence of velopharyngeal impairment that was statistically significant, a higher fistula rate, and experienced more secondary surgery than Swedish-born peers. Hearing loss due to middle ear disease was slightly more common among IAC, whereas the rate of treatment with tympanostomy tubes was similar between the two groups. In conclusion, IAC with CL/P represent a challenge for CL/P teams because of the heterogeneous nature of the patient group and difficulties associated with delayed treatment, and the results show the importance of close follow-up over time.


Assuntos
Criança Adotada , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Pré-Escolar , Fenda Labial/complicações , Fissura Palatina/complicações , Feminino , Perda Auditiva/complicações , Humanos , Internacionalidade , Masculino , Ventilação da Orelha Média/estatística & dados numéricos , Fístula Bucal/complicações , Reoperação/estatística & dados numéricos , Suécia , Tempo para o Tratamento , Insuficiência Velofaríngea/complicações
8.
Endocrinol Metab Clin North Am ; 48(4): 795-810, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31655777

RESUMO

Essential hypertension is a highly prevalent disease in the general population. Secondary hypertension is characterized by a specific and potentially reversible cause of increased blood pressure levels. Some secondary endocrine forms of hypertension are common (caused by uncontrolled cortisol, aldosterone, or catecholamines production). This article describes rare monogenic forms of hypertension, characterized by electrolyte disorders and suppressed renin-aldosterone axis. They represent simple models for the physiology of renal control of sodium levels and plasma volume, thus reaching a high scientific interest. Furthermore, they could explain some features closer to the essential phenotype of hypertension, suggesting a mechanistically driven personalized treatment.


Assuntos
Hiperplasia Suprarrenal Congênita , Artrogripose , Fissura Palatina , Pé Torto Equinovaro , Deformidades Congênitas da Mão , Hipertensão , Síndrome de Liddle , Síndrome de Excesso Aparente de Minerolocorticoides , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/metabolismo , Hiperplasia Suprarrenal Congênita/terapia , Artrogripose/complicações , Artrogripose/metabolismo , Artrogripose/terapia , Fissura Palatina/complicações , Fissura Palatina/metabolismo , Fissura Palatina/terapia , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/metabolismo , Pé Torto Equinovaro/terapia , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/metabolismo , Deformidades Congênitas da Mão/terapia , Humanos , Hipertensão/tratamento farmacológico , Hipertensão/etiologia , Hipertensão/metabolismo , Hipertensão/fisiopatologia , Síndrome de Liddle/complicações , Síndrome de Liddle/metabolismo , Síndrome de Liddle/terapia , Síndrome de Excesso Aparente de Minerolocorticoides/complicações , Síndrome de Excesso Aparente de Minerolocorticoides/metabolismo , Síndrome de Excesso Aparente de Minerolocorticoides/terapia
10.
Int J Med Inform ; 129: 1-12, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31445242

RESUMO

BACKGROUND: Cleft palate patients have inability to produce adequate velopharyngeal closure, which results in hypernasal speech. In clinic, hypernasal speech is assessed through subject assessment by speech language pathologists. Automatic hypernasal speech detection can provide aided diagnoses for speech language pathologists and clinicians. OBJECTIVES: This study aims to develop Long Short-Term Memory (LSTM) based Deep Recurrent Neural Network (DRNN) system to detect hypernasal speech from cleft palate patients, thus to provide aided diagnoses for clinical operation and speech therapy. Meanwhile, the feature mining and classification abilities of LSTM-DRNN system are explored. METHODS: The utilized speech recordings are 14,544 vowels in Mandarin. Speech data is collected from 144 children (72 children with hypernasality and 72 controls) with the age of 5-12 years old. This work proposes a LSTM based DRNN system to achieve automatic hypernasal speech detection, since LSTM-DRNN can learn short-time dependences of hypernasal speech. The vocal tract based features are fed into LSTM-DRNN to achieve deep mining of features. To verify the feature mining ability of LSTM-DRNN, features projected by LSTM-DRNN are fed into shallow classifiers instead of the following two fully connected layers and a softmax layer. And the features without the projecting process of LSTM-DRNN are directly fed into shallow classifiers as a comparison. Hypernasality-sensitive vowels (/a/, /i/, and /u/) are analyzed for the first time. RESULTS: This LSTM-DRNN based hypernasal speech detection method reaches higher detection accuracy than that using shallow classifiers, since LSTM-DRNN mines features through time axis and network depth simultaneously. The proposed LSTM-DRNN based hypernasality detection system reaches the highest accuracy of 93.35%. According to the analysis of hypernasality-sensitive vowels, the experimental result concludes that vowels /i/ and /u/ are the most sensitive vowels to hypernasal speech. CONCLUSIONS: The results show that LSTM-DRNN has robust feature mining ability and classification ability. This is the first work that applies the LSTM-DRNN technique to automatically detect hypernasality in cleft palate speech. The experimental results demonstrate the potential of deep learning on pathologist speech detection.


Assuntos
Redes Neurais de Computação , Doenças Nasais/diagnóstico , Adolescente , Criança , Pré-Escolar , Fissura Palatina/complicações , Feminino , Humanos , Masculino , Doenças Nasais/etiologia , Fala
11.
Int J Pediatr Otorhinolaryngol ; 127: 109643, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31442731

RESUMO

OBJECTIVES: Velopharyngeal insufficiency (VPI) may be due to functional or anatomic causes, and can lead to speech deficits, communication difficulty, and emotional strain on patients and their caregivers. The VPI Effects on Life Outcomes (VELO) instrument quantifies quality of life outcomes in VPI patients both before and after VPI surgery. This study aims to identify pre-operative patient characteristics associated with better post-operative quality of life. METHODS: This study is a retrospective chart review of 51 patients who underwent VPI surgery between 2009 and 2018 at a tertiary free-standing children's hospital. A 26-item parent-proxy VELO questionnaire was administered by telephone to parents to assess their child's quality of life post-VPI surgery. RESULTS: Twenty-seven parents responded to the VELO questionnaire. Average post-operative VELO score was significantly higher in non-syndromic patients as compared with syndromic patients. Average post-operative VELO score was not significantly different between patients with and without submucous cleft (SMC) or those with mild to moderate versus severe pre-operative hypernasality. On multivariate analysis, absence of genetic syndrome, lack of submucous cleft, and presence of severe-pre-operative hypernasality were significantly and positively associated with increased post-operative VELO scores. CONCLUSION: Children who undergo VPI surgery are more likely to have better post-operative quality of life outcomes if their VPI was not associated with a genetic syndrome or submucous cleft. Non-syndromic and non-SMC patients with severe pre-operative hypernasality may benefit significantly from VPI surgery and have improved post-operative quality of life.


Assuntos
Qualidade de Vida , Insuficiência Velofaríngea/cirurgia , Adolescente , Criança , Pré-Escolar , Fissura Palatina/complicações , Feminino , Humanos , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Índice de Gravidade de Doença , Inquéritos e Questionários , Qualidade da Voz
12.
Int J Pediatr Otorhinolaryngol ; 127: 109644, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31442732

RESUMO

OBJECTIVE: It is generally recognized the most common pediatric otologic surgical procedure is ventilation tube insertion (VTI). Tympanoplasty and mastoidectomy are more frequently performed on adults. In this study we examined the incidence and age distribution of these procedures by use of a population-based birth cohort design, in order to provide an overall view of the role of these procedures in the pediatric population. MATERIALS AND METHODS: We used the national health insurance research database in Taiwan. We retrieved data on all patients born in the years 2000 and 2001, subsequently underwent VTI, tympanoplasty or mastoidectomy from 2000 to 2013. The incidence and age distribution of these procedures were analyzed. RESULTS: The cumulative incidence of VTI, tympanoplasty, and mastoidectomy was 0.41%, 0.02% and 0.025%, respectively. VTI were more often performed on children 4 or 5 years of age. Tympanoplasties are frequently done on children older than 5, and 30.7% of them had earlier VTI. The time interval from VTI to tympanoplasty was 5.18 ±â€¯2.27 years (mean ±â€¯SD). Mastoidectomies are more often performed on children from 2 to 9 years of age. CONCLUSIONS: VTI was the most frequent otologic surgery for the pediatric population, and was more often performed on children 4-5 years old. Also, tympanoplasty is more frequently performed on children older than 5, and a third of them had prior VTI. Overall, the time interval from VTI to tympanoplasty was 5.18 years. Furthermore, children with cleft palate and congenital metabolic disorder were more prone to otologic surgical procedures.


Assuntos
Mastoidectomia/estatística & dados numéricos , Ventilação da Orelha Média/estatística & dados numéricos , Timpanoplastia/estatística & dados numéricos , Distribuição por Idade , Criança , Pré-Escolar , Fissura Palatina/complicações , Estudos de Coortes , Bases de Dados Factuais , Humanos , Lactente , Recém-Nascido , Programas Nacionais de Saúde/estatística & dados numéricos , Estudos Retrospectivos , Taiwan
13.
Int J Pediatr Otorhinolaryngol ; 126: 109618, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31394406

RESUMO

BACKGROUND: Cleft lip and palate (CLP) is the most common craniofacial anomaly. CLP affects resonance, voice and speech. Besides the most frequently reported resonance and speech disorders, several reports have addressed acoustic abnormalities in the voice of patients with CLP. However, there are just a few reports focusing on vocal treatment in this population. OBJECTIVE: To study whether a Speech and Language Pathology (SLP) intervention including vocal rehabilitation for children with CLP and velopharyngeal insufficiency (VPI) provides significant improvement of abnormal acoustic parameters of voice. MATERIAL AND METHODS: Fifteen children with cleft lip and palate (CLP) and velopharyngeal insufficiency (VPI) were studied. Age ranged 4-5 years. A matched control group of children without craniofacial anomalies and adequate speech, resonance and voice was assembled. All children underwent acoustic analysis of voice at the onset and at the end of SLP intervention including vocal rehabilitation. RESULTS: Hypernasality persisted unchanged following SLP intervention. Mean Fundamental Frequency (F0) did not demonstrate a significant difference between the control and the active groups. At the onset of the intervention mean shimmer and jitter were significantly higher in all patients with CLP as compared to controls. At the end of the intervention shimmer and jitter significantly decreased in patients with CLP showing no differences as compared to controls. CONCLUSION: SLP intervention including vocal rehabilitation improves abnormal acoustic parameters of voice. Besides surgical treatment for VPI the SLP intervention in children with CLP should also address vocal rehabilitation.


Assuntos
Fenda Labial/complicações , Fissura Palatina/complicações , Acústica da Fala , Distúrbios da Voz/reabilitação , Qualidade da Voz , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Feminino , Humanos , Masculino , Insuficiência Velofaríngea/complicações , Insuficiência Velofaríngea/cirurgia , Distúrbios da Voz/etiologia
14.
Artigo em Chinês | MEDLINE | ID: mdl-31327205

RESUMO

Objective:To explore the characteristics of otitis media with effusion(OME) in children with cleft palate(CP),including the incidence rate, age peak,relationship between cleft palate type and OME. And to explore the timing of VTI intervention in CP children with OME.Method: This study included congenital CP children who were plant to do palatoplasty.They all finished acoustic impedance tests and auditory brainstem responses(ABR) before surgery.Analyze the characteristics of OME and compare the hearing effects and complications between CP children underwent palatoplasty with VTI and those underwent palatoplasty without VTI.Result:The incidence of OME in CP children is 82% and the average is (11.59±6.60) months.The average ABR V wave threshold of CP children with OME is 46.5 dB nHL,of which about 68% children had moderate hearing loss. The latency of Ⅰ,Ⅲ and Ⅴ waves was prolonged, and there was no change in wave interval compared with whom without OME. The type of cleft palate was not related to the incidence of OME(χ²=2.532, P=0.639).Compared with the preoperative hearing thresholds, the percentage of hearing recovery in 1 month,6 months and 12 months after VTI was 92.4%, 92.2% and 96.2% respectively.Persistent OME still exists in 41% of the children in the only palatoplasty group after operation.Conclusion: It is found that the incidence of OME in CP children is higher, the average age is earlier, and the degree of hearing loss is greater. Thus, no matter what the the type of cleft palate is,the doctors should pay attention to the hearing status of the CP children.If they are accompanied by OME with hearing loss, VTI is needed at the same time of palatoplasty.Palatoplasty alone has limitations on hearing improvement in some children with cleft palate.


Assuntos
Fissura Palatina/complicações , Fissura Palatina/cirurgia , Perda Auditiva/complicações , Otite Média com Derrame/complicações , Testes de Impedância Acústica , Criança , Humanos , Ventilação da Orelha Média , Membrana Timpânica
15.
Dentomaxillofac Radiol ; 48(8): 20190085, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31271540

RESUMO

OBJECTIVES: This study investigated the association of congenital cervical vertebrae anomalies (CVA) with the prevalence of cleft lip and palate (CLP) specifying the most frequent associations. METHODS: A meta-analysis was based on the Preferred Reporting Items of Systematic reviews and Meta-Analyses guideline. A search of the PubMed, Embase, Web of Science, Science Direct, Scopus and Lilacs database was performed until March 2018. Clinical studies that evaluated CVA in individuals with CLP (experimental group) and without CLP (control group) was included. For the statistical analysis, the software Comprehensive Meta-Analysis (Biostat; Englewood, NJ) was used, with a p-value < 0.05 considered significant. RESULTS: A total of 10 articles were included, for a total of 2566 individuals with CLP and 2301 individuals without CLP. The meta-analysis indicated statistically significant differences and the group of individuals with CLP had an increased number of CVA when compared to the group of individuals without CLP (p < 0.05; 95% confidence interval, 2.41-6.11; heterogeneity: Q-value 32.8, I2 72.6%). CONCLUSIONS: This study indicated that CVA are associated with the presence of CLP. Among the patients with CVA the most frequent anomalies were the deficiency of the posterior arch, followed by the fusion of cervical vertebrae. Individuals with cleft palate and those with unilateral cleft lip and palateCLP had an increased prevalence of CVA.


Assuntos
Vértebras Cervicais , Fenda Labial , Fissura Palatina , Vértebras Cervicais/anormalidades , Fenda Labial/complicações , Fissura Palatina/complicações , Humanos , Prevalência
16.
Medicine (Baltimore) ; 98(26): e16170, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261547

RESUMO

OBJECTIVE: Non-syndromic cleft of the lip and/or palate (NSCL/P) is one of the most common polygenic diseases. In this study, both case-control and family-based association study were used to confirm whether the Single Nucleotide Polymorphisms (SNPs) were associated with NSCL/P. METHODS: A total of 37 nuclear families and 189 controls were recruited, whose blood DNA was extracted and subjected to genotyping of SNPs of 27 candidate genes by polymerase chain reaction-improved multiple ligase detection reaction technology (PCR-iMLDR). Case-control statistical analysis was performed using the SPSS 19.0. Haplotype Relative Risk (HRR), transmission disequilibrium test (TDT), and Family-Based Association Test (FBAT) were used to test for over-transmission of the target alleles in case-parent trios. The gene-gene interactions on NSCL/P were analyzed by Unphased-3.1.4. RESULTS: In case-control statistical analysis, only C14orf49 chr14_95932477 had statistically significant on genotype model (P = .03) and allele model (P = .03). Seven SNPs had statistically significant on TDT. None of 26 alleles has association with NSCL/P on FBAT. Some SNPs had haplotype-haplotype interactions and genotype-genotype interactions. CONCLUSION: C14orf49 chr14_95932477 was significantly different between cases and controls on genotype model and allele model by case-control design. Seven SNPs were significantly different on HRR. Four SNPs were significantly different on TDT.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Fenda Labial/complicações , Fissura Palatina/complicações , Família , Feminino , Estudos de Associação Genética , Humanos , Masculino , Modelos Genéticos , Fosfatases de Fosfoinositídeos/genética , Proteínas de Transporte Vesicular/genética
17.
Oral Dis ; 25(7): 1751-1758, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31233659

RESUMO

BACKGROUND: Non-syndromic supernumerary teeth (NSST) or hyperdontia may share common genetic determinants with non-syndromic cleft lip with or without palate (NSCL/P). The aim of this study was to test the associations between five genome-wide-associated NSCL/P-susceptible single nucleotide polymorphisms (SNPs) (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) and the occurrence of NSST. MATERIALS AND METHODS: A total of 163 cases and 326 controls were recruited and their genomic DNA was extracted from blood samples. Five NSCL/P-susceptible SNPs (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) were genotyped by TaqMan method. Odds ratio (OR) and 95% confidence interval (CI) were used to estimate the associations between the SNPs and the risk of NSST by PLINK software. RESULTS: Rs4791774 (A > G) and rs13041247 (T > C) were associated with risk of NSST (rs4791774: Padd  = 0.011, OR, 95% CI = 0.62, 0.43-0.90; rs13041247: Phomo  = 0.031, OR, 95% CI = 1.79, 1.05-3.05) and one supernumerary tooth (rs4791774: Pdom  = 0.009, OR, 95% CI = 0.56, 0.36-0.87; rs13041247: Phomo  = 0.034, OR, 95% CI = 1.82, 1.05-3.15). Rs4791774 (A > G) was also showed association with risk of upper arch supernumerary teeth only (Padd  = 0.010, OR, 95% CI = 0.60, 0.41-0.89). CONCLUSION: Non-syndromic cleft lip with or without palate-susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Polimorfismo de Nucleotídeo Único/genética , Dente Supranumerário/genética , Adolescente , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , Criança , China , Fenda Labial/complicações , Fissura Palatina/complicações , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Dente Supranumerário/complicações
18.
Int J Pediatr Otorhinolaryngol ; 124: 54-58, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31158572

RESUMO

BACKGROUND: Submucous cleft palate is a cleft of the secondary palate with low phenotypic gene expression. It can occur as an isolated malformation or associated with a syndrome that includes certain facial features and other vocal tract malformations. Velopharyngeal insufficiency (VPI) is rare in cases of non - syndromic occult clefts of the secondary palate (OSCSP). In contrast, syndromic OCSP has a high prevalence of VPI. VPI requires surgical treatment in the vast majority of cases. OBJECTIVE: To present a case of OSCSP with VPI after partial tonsillectomy and adenoidectomy (T & A) associated with facial features and other vocal tract malformations. A chromosomal abnormality (8q22.2 deletion) was demonstrated by cytogenetic testing. CASE PRESENTATION: Eight year old female with VPI following partial T & A. OSCSP was diagnosed. Complete T & A was performed in preparation for a pharyngeal flap. Pharyngeal flap surgery was customized according to findings of videonasopharyngoscopy (VNP) and multiplanar videofluoroscopy (MPVF). VPI was corrected without intraoperative or postoperative complications. CONCLUSION: The presence of multiple vocal tract malformations should be a red flag for suspecting a syndromic OSCSP. Surgical treatment of VPI in cases of OSCSP should be performed after complete T & A, Imaging procedures for assessing neck blood vessels and it should be customized according to imaging (VNP and MPVF) findings.


Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 8 , Fissura Palatina/genética , Insuficiência Velofaríngea/genética , Insuficiência Velofaríngea/cirurgia , Criança , Fissura Palatina/complicações , Feminino , Humanos , Insuficiência Velofaríngea/complicações
19.
Pediatrics ; 144(1)2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31189616

RESUMO

CONTEXT: Children with orofacial clefts (OFCs) are reported to have worse neurodevelopmental outcomes than unaffected peers, although study methodologies and findings are highly variable and trends in outcomes by age remain unexplored. OBJECTIVE: To examine the strength of the evidence and explore trends in neurodevelopment by age. DATA SOURCES: A systematic review was conducted of studies published from January 1, 1980, through November 3, 2017. STUDY SELECTION: Studies were independently screened by the authors and included in the review if they met predetermined eligibility criteria: (1) children and/or youth (<25 years) with OFCs were studied, and (2) neurodevelopmental or academic outcomes were included. DATA EXTRACTION: The authors independently evaluated study quality and extracted outcome data. RESULTS: Thirty-one studies involving 10 143 patients with OFCs and 2 017 360 controls met eligibility criteria. Although the quality of the studies varied, patients with OFCs consistently performed worse than their peers on neurodevelopmental and academic measures. In infancy, differences were observed on multiple developmental outcomes (eg, cognition, motor skills, and language), and in later childhood and adolescence, differences were manifest on several indicators of academic achievement (eg, use of special education services, grades, and scores on standardized measures). LIMITATIONS: Heterogeneity in study designs, methods, and outcomes prevented statistical pooling and modeling for meta-analysis. CONCLUSIONS: Children with OFCs exhibit neurodevelopmental and academic deficits compared with their unaffected peers. Although the nature of these deficits changes with development, differences are observed from infancy through adolescence. Clinicians should monitor neurodevelopment in children with OFCs and support them appropriately.


Assuntos
Sucesso Acadêmico , Fenda Labial/complicações , Fissura Palatina/complicações , Transtornos do Neurodesenvolvimento/etiologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Fenda Labial/psicologia , Fissura Palatina/psicologia , Feminino , Humanos , Lactente , Masculino , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Adulto Jovem
20.
Niger J Clin Pract ; 22(6): 872-876, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31187776

RESUMO

Papillon-Léage-Psaume Syndrome, also known as oral-facial-digital syndrome (OFDS) type I, describes a group of neurodevelopmental disorders that are characterized by anomalies of the oral cavity, facial features, and the digits. Central nervous system (CNS) anomalies and visceral organ abnormalities such as kidney, pancreas, and ovarian cysts can also be seen in these patients. Among 13 potential types, female-inherited OFDS type I is the most common and it has been reported to be lethal in males. After the identification of the genetic relation of OFDS in 2001, it is now known that, except X-linked OFDS Type I and VIII, generally all types of OFDSs are autosomal recessive. The dentist's knowledge about the syndrome can reduce the development of physical and dental anomalies by facilitating early diagnosis. This article presents a patient with Papillon-Léage-Psaume Syndrome (Oral-Facial-Digital Syndrome Type I).


Assuntos
Má Oclusão de Angle Classe I/terapia , Maxila/cirurgia , Síndromes Orofaciodigitais/complicações , Técnicas de Movimentação Dentária , Anormalidades Múltiplas/terapia , Adolescente , Fissura Palatina/complicações , Feminino , Humanos , Má Oclusão de Angle Classe I/etiologia , Dente Impactado/etiologia
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