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1.
J. Health Biol. Sci. (Online) ; 10(1): 1-4, 01/jan./2022. ilus
Article in English | LILACS | ID: biblio-1370925

ABSTRACT

Introduction: orofacial clefts are common congenital malformations with an important social, psychological, and economic impact. The treatment of this condition may include different surgical procedures that previously require an adequate oral condition. Case report: we report a case of dental treatment before palatoplasty in a male patient of 17 years-old with bilateral cleft lip and palate and lesion in the jugal mucosa. Final considerations: the adequacy of the oral environment is a fundamental step in the treatment of patients with orofacial clefts and aims to restore oral health regardless of the degree of complexity of the dental treatment through the reduction of the pathogenic microbiota, elimination of retentive niches, instructions on diet and adequate oral hygiene and constant patient motivation.


Objetivos: as fissuras orofaciais são malformações congênitas comuns, com importante impacto social, psicológico e econômico. O tratamento dessa condição pode incluir vários procedimentos cirúrgicos que requerem previamente uma adequada condição bucal. Relato de caso: Relatamos o caso de tratamento odontológico prévio a palatoplastia em um paciente do gênero masculino de 17 anos de idade, com fissura transforame incisivo bilateral e lesão em mucosa jugal. Considerações finais: A adequação do meio bucal é uma etapa fundamental no tratamento de pacientes com fissuras orofaciais e visa restabelecer a saúde bucal independente do grau de complexidade do tratamento odontológico por meio da redução da microbiota patogênica, eliminação de nichos retentivos, orientações sobre dieta e higiene bucal adequada e motivação constante do paciente.


Subject(s)
Cleft Palate , Oral Hygiene , Palate , Cleft Lip , Cissus , Dental Caries , Craving , Mouth Rehabilitation
2.
Rev. Bras. Saúde Mater. Infant. (Online) ; 21(4): 1093-1099, Oct.-Dec. 2021.
Article in English | LILACS | ID: biblio-1360727

ABSTRACT

Abstract Objectives: to understand the psychosocial implications experienced by caregiving parents, resulting from the care of the child with cleft lip and/or palate associated with the syndrome. Methods: a cross-sectional and qualitative study, guided by the Consolidated Criteria for Reporting Qualitative Research tool, carried out between January and May 2019. Data collection was carried out through semi-structured interviews that were audio-recorded and transcribed in full. Thematic content analysis was used as the methodological framework and Symbolic Interactionism as the theoretical framework. Results: the participants were 16 caregiving parents. Four categories were listed: implications for diagnosis and treatment initiation, implications for financial issues and paid activities, implications for the care process, and implications for access to health resources. Conclusion: it was found that psychosocial implications experienced by these informal caregivers are multifaceted and complex, and that knowing them will enable planning and implementation of actions that contribute, in addition to the children's rehabilitation process, to the health and quality of life of those who care.


Resumo Objetivos: compreender as implicações psicossociais vivenciadas por pais cuidadores, decorrentes do cuidado do filho com fissura de lábio e/ou palato associada à síndrome. Métodos: estudo transversal, qualitativo, norteado pela diretriz Consolidated Criteria for Reporting Qualitative Research, realizado entre janeiro e maio de 2019. A coleta de dados realizou-se através de entrevista semiestruturada, que foi audiograda e transcrita na íntegra. Utilizou-se como referencial metodológico a Análise de Conteúdo Temática e como referencial teórico, o Interacionismo Simbólico. Resultados: participaram 16 pais cuidadores. Foram elencadas quatro categorias: implicações diante do diagnóstico e início do tratamento, implicações relacionadas às questões financeiras e de atividades remuneradas, implicações relacionadas ao processo de cuidar e implicações referentes ao acesso aos recursos de saúde. Conclusão: percebeu-se que as implicações psicossociais vivenciadas por esses cuidadores informais são multifacetadas e complexas, e conhece-las viabilizará o planejamento e a implementação de ações que contribuam, além do processo reabilitador das crianças, à saúde e qualidade de vida daqueles que cuidam.


Subject(s)
Humans , Infant , Parents/psychology , Cleft Lip , Cleft Palate , Caregivers/psychology , Psychosocial Support Systems , Infant Care , Cross-Sectional Studies
3.
Arq. bras. med. vet. zootec. (Online) ; 73(5): 1105-1110, Sept.-Oct. 2021. ilus
Article in English | LILACS, VETINDEX | ID: biblio-1345268

ABSTRACT

The aim of this work was to report the occurrence of dicephalus iniodymus monauchenos in a Nellore newborn. A three-days old calf, from in vitro production, with duplication of the head and a history of cesarean birth was attended. On physical examination, the dicephalus, iniodymus and monauchenos, which were almost the same size and shape, had four eyes and four ears. Computed tomography showed the presence of two skulls fused with a common occipital foramen, two nasopharynxes, oropharynxes with the presence of a cleft lip and a cleft palate in the right head, which continued in a single esophagus and a single trachea. At necropsy, the presence of duplication of the cerebrum and cerebellum was observed, with union of the parts in the region of the trapezoid body of the brainstem and continued as a single spinal cord. This study characterizes the clinical, tomographic, and necropsy findings of a dicephalus Nelore neonate.(AU)


O objetivo deste trabalho foi relatar a ocorrência de Dicephalus Iniodymus Monauchenos em um neonato da raça Nelore de produção in vitro. Foi atendida uma fêmea bovina, de três dias de idade, com duplicação das cabeças e histórico de nascimento por meio de cesariana. No exame físico, observou-se a dicefalia, Iniodymus e Monauchenos, apresentando quatro olhos e quatro orelhas. Na tomografia computadorizada, constatou-se a presença de dois crânios fundidos com um forame occipital comum, duas nasofaringes, orofaringes com presença de lábio leporino e fenda palatina na cabeça direita, que continuavam em um único esôfago e em uma única traqueia. Na necropsia, observou-se a presença de duplicação do encéfalo e cerebelo, com união das partes na região do corpo trapezoide do tronco encefálico, que continuavam como uma única medula espinhal. Este estudo caracteriza os achados clínicos, tomográficos e de necropsia de um neonato Nelore dicefálico.(AU)


Subject(s)
Animals , Cattle , Congenital Abnormalities/diagnosis , Congenital Abnormalities/pathology , Congenital Abnormalities/diagnostic imaging , Cattle/abnormalities , Fertilization in Vitro/veterinary , Cleft Lip/veterinary , Cleft Palate/veterinary
4.
Rev. Odontol. Araçatuba (Impr.) ; 42(2): 30-34, maio-ago. 2021. tab, graf
Article in Portuguese | LILACS, BBO | ID: biblio-1252909

ABSTRACT

Dentre as principais consequências da fissura labial e/ou palatina não sindrômica (FL/ PNS) estão dificuldades com fonação e autoestima, a primeira uma questão funcional e a segunda um problema social derivado não raro de contextos de bullying que, dentre outros, podem levar o indivíduo à evasão escolar. O objetivo deste estudo foi avaliar o atraso de escolaridade e a dificuldade de socialização de pacientes com FL/PNS quando comparados a uma população não afetada da mesma faixa etária de 7 a 20 anos, atendidos na Universidade José do Rosário Vellano ­UNIFENAS, campus de Alfenas. Os sujeitos foram agrupados em duas categorias de indivíduos, o grupo caso composto por indivíduos com FL/PNS em tratamento no Centro Pró-Sorriso da UNIFENAS; e o grupo controle composto por indivíduos sem FL/PNS em tratamento nas clínicas de Odontopediatria e Integrada da UNIFENAS. Os resultados demonstraram que a proporção de pacientes com FL/PNS atrasados na escola foi de quase 5 vezes maior que o número de pacientes sem fissuras (p<0,01). Constatou-se que a presença da FL/PNS pode ser o ponto de partida para outros contribuintes, com interferências psicológicas e/ou sociais, interferindo negativamente no processo de socialização (bullying) do paciente (p=0,0018). Portanto devem ser tratadas com abordagem multidisciplinar, incluindo diversos profissionais, dentre eles pedagogos, psicólogos e odontólogos(AU)


Among the main consequences of Non Syndromic Cleft Lip and Palate (NSCLP) are the difficulties with phonation and self estime, the first being a functional issue na the later being social that is derived from, not rarely, bullying contexts, that among other things, may lead na individual to school evasion. The objective of this study was to avaluate the levels of scholarity of patients with NSCLP when compared to a non affected population of the same age in individuals from 7 to 20 years old, attended the Pediatric and Integrated Pediatric Clinic of UNIFENAS, Alfenas campus. The subjects were grouped into two categories of individuals, the case group was composed of individuals with FL/PNS with treatment at the ProSmile center at UNIFENAS. The control group was composed of individuals without FL/PNS in treatment at the clinics of pediatric and integrated denistry at UNIFENAS. The results demonstrated the number of patients with FL/PNS that presented scholar delay were almost 5 times the number of patients that didn't present FL/PNS (p<0,01). The presence of NFL/PNS may be the starting point for other contributors with psychological and/or social interferences, interfering negatively with the socialization process (bullying) of the patient (p=0,0018). They should be treated with a multidisciplinary manner, including multiple professionals, among them pedagogues, psychologist and dentist(AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Student Dropouts , Cleft Lip , Cleft Palate , Bullying , Phonation , Socialization
5.
Rev. Soc. Odontol. La Plata ; 31(60): 7-12, jul. 2021. ilus
Article in Spanish | LILACS | ID: biblio-1284434

ABSTRACT

Objetivo: Describir el plan de tratamiento completo para el manejo de pacientes con fisura labio alvéolo palatina (F.L.A.P.), basado en nuestra experiencia clínica de más de 40 años. Casos clínicos: En nuestro protocolo consideramos fundamental el tratamiento ortopédico, teniendo en cuenta los tiempos de crecimiento y desarrollo del maxilar superior de cada paciente, para luego aplicar las técnicas quirúrgicas en un maxilar armónico, con un éxito más predecible. Se describirá una serie de casos clínicos con seguimiento de pacientes. Conclusión: Con este protocolo que pregonamos desde hace muchos años, nos diferenciamos principalmente de otras propuestas por considerar los tiempos biológicos de cada paciente en cuanto a crecimiento y desarrollo, y no por basarnos en tiempos quirúrgicos preestablecidos. Aplicando este protocolo obtenemos resultados predecibles que entendemos que solo son posibles de evaluar, al realizar el seguimiento del paciente hasta completar su desarrollo (AU)


Objective: To describe the comprehensive treatment plan aimed at managing patients with cleft lip and palate (CLP) on the basis of our more than forty years of clinical experience. Case reports: e orthopedic treatment is deemed fundamental in the present protocol, which takes into account the maxilla growth and development periods of each individual patient, to later perform a surgical technique in a harmonized maxilla, with a more predictable success. Clinical cases with the patient follow-up shall be described. Conclusion: e main difference between the present protocol that has been held for many years and others proposed approaches mainly lies in considering the unique growth and developmental biological stages of each patient and not in drawing on pre-established surgical timing. When applying this protocol, predictable results are achieved and they are only meant possible to be assessed during the thorough patient follow-up (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Adult , Palatal Obturators , Cleft Lip/surgery , Cleft Palate/surgery , Orthopedics/methods , Patient Care Team , Periosteum/surgery , Maxillofacial Development
6.
J. pediatr. (Rio J.) ; 97(3): 321-328, May-June 2021. tab
Article in English | LILACS | ID: biblio-1279326

ABSTRACT

Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.


Subject(s)
Humans , Cleft Lip/genetics , Cleft Palate/genetics , Brazil , Chromosome Aberrations , Genomics
7.
Braz. dent. j ; 32(2): 37-44, Mar.-Apr. 2021. graf
Article in English | LILACS, BBO | ID: biblio-1339322

ABSTRACT

Abstract This study aimed to analyze the maxillary growth and development of children with oral clefts using the innovative method of 3D-3D superimposition technique. Children with unilateral complete cleft lip (UCL) and unilateral cleft lip and palate (UCLP) participated in the study. The impressions of the dental arches were executed 1 day before and 1 year after lip repair surgery. A 3D laser scanner digitized the dental models and the stereophotogrammetry system software analyzed the 3D-3D superimpositions in two groups of matches (same child, UCL and UCLP) and one group of mismatches (different individuals). The differences were evaluated by Root Mean Square (RMS) and expressed in millimeters (mm). Kruskal-Wallis test followed by post-hoc Dunn test and Mann-Whitney test were assessed to compare the groups (α=5%). RMS was 1.34 mm (± 0.37) in UCL group, 1.41 mm (± 0.32) in UCLP group, and 3.38 mm (± 1.28) in mismatches group. RMS was significantly greater in mismatches than in matches groups (p<0.0001). No statistically significant differences occurred between genders. The 3D-3D superimposition technique showed the maxillary development after lip repair surgery in the anterior region of the palate. Thus, it is suggested that the cleft amplitude and the palatal segments proportion influenced the morphological heterogeneity and, consequently, the development and maxillary growth of children with orofacial cleft.


Resumo O objetivo deste estudo foi analisar o crescimento e desenvolvimento maxilar de crianças com fissuras orais por meio de um método inovador da técnica de sobreposição 3D-3D. Participaram do estudo crianças com fissura unilateral completa de lábio (FL) e fissura unilateral de lábio e palato (FLP). As moldagens dos arcos dentários foram realizadas 1 dia antes e 1 ano após o reparo cirúrgico labial. Um scanner a laser 3D digitalizou os modelos dentários e o software do sistema de estereofotogrametria analisou as sobreposições 3D-3D em dois grupos correspondentes (mesmo indivíduo, FL e FLP) e um grupo não-correspondente (indivíduos diferentes). As diferenças foram avaliadas pelo Root Mean Square (RMS) e expressas em milímetros (mm). O teste de Kruskal-Wallis seguido do teste post-hoc de Dunn e teste de MannWhitney foram avaliados para comparar os grupos (α=5%). RMS foi de 1.34 mm (± 0.37) no grupo FL, 1.41 mm (± 0.32) no grupo FLP e 3.38 mm (± 1.28) no grupo não-correspondente. RMS foi significativamente maior no grupo não-correspondente (p <0.0001). Não houve diferenças estatisticamente significativas entre os gêneros. A técnica de sobreposição 3D-3D evidenciou o desenvolvimento da maxila após a cirurgia labial na região anterior do palato. Assim, sugere-se que a amplitude da fenda e a proporção dos segmentos palatinos influenciam na heterogeneidade morfológica e, consequentemente, no desenvolvimento e crescimento maxilar de crianças com fissura orofacial


Subject(s)
Humans , Male , Female , Child , Cleft Lip/surgery , Cleft Palate/surgery
8.
Rev. Odontol. Araçatuba (Impr.) ; 42(1): 44-48, jan.-abr. 2021. ilus
Article in Portuguese | LILACS, BBO | ID: biblio-1252869

ABSTRACT

Diversas anomalias craniofaciais acometem os seres humanos, dentre estas podem ser citadas as fissuras labiopalatinas. Ocorrem devido à mal formações congênitas e comprometem o desenvolvimento orofacial e maxilo-mandibular, gerando complicações estéticas e funcionais. O momento para abordagem cirúrgica em pacientes com deformidade deste tipo é crucial para atingir o melhor resultado. Entretanto, muitos deles não procuram atendimento ou não tem acesso aos centros especializados. A pré-maxila em portadores de fissura labiopalatina transforame bilateral, não submetidos a tratamento cirúrgico na infância, é comumente protruída, impedindo o desenvolvimento e função adequada da musculatura perioral/ Ainda, pode causar dificuldades alimentares,de fonação e, principalmente, estético. O objetivo do presente trabalho é relatar o caso de uma paciente acompanhada no serviço de cirurgia bucomaxilofacial OSID/UFBA, portadora de fissura labiopalatina, submetida à remoção de pré-maxila em idade adulta. O fechamento da fenda palatina não foi possível devido a idade da paciente e o grau de desenvolvimento do palato, tendo indicado tratamento com uso de prótese obturadora. Considera-se que quanto mais precoce e associado a uma boa técnica cirúrgica forem realizadas as intervenções primárias, menores serão as sequelas. Consequentemente, os resultados estéticos e funcionais serão mais prováveis, sendo desnecessária a remoção cirúrgica da pre-maxila(AU)


Several craniofacial anomalies affect humans and, among these, it can be cited the cleft lip and palate. These occur due to congenital malformations and compromise the orofacial and maxillo-mandibular development, causing aesthetic and functional complications. The moment of the surgical approach in patients with this type of deformities is crucial to achieve the best outcome, however, many of them do not seek care or have no access to specialized centers. The premaxilla in carries of bilateral cleft lip and palate when they are not submitted to a surgical treatment in childhood, is commonly protruding, impeding the development and function of the perioral musculature, besides difficult feeding, phonation and mainly aesthetic. The aim of this article is to report the case of a patient accompained with the Bucomaxillofacial Surgery Service from OSID / UFBA, with cleft lip and palate, submitted to pre-maxilla removal, in adulthood. The cleft palate closure was not possible due to the age of the patient and degree of development of the palate, indicating treatment with obturator prosthesis. It is considered that, the sooner and associated with a good surgical technique, primary interventions are performed, the fewer the sequelae and consequently the aesthetic and functional results, where, in most cases, surgical removal of the premaxilla will be unnecessary(AU)


Subject(s)
Female , Adult , Cleft Lip , Cleft Palate , Craniofacial Abnormalities , Alveoloplasty , Maxilla/surgery
9.
Chinese Journal of Stomatology ; (12): 1059-1065, 2021.
Article in Chinese | WPRIM | ID: wpr-921890

ABSTRACT

The prevention, prenatal diagnosis and postnatal treatment of cleft lip and palate form a comprehensive treatment process requiring multidisciplinary participation. Prevention and treatment of cleft lip and palate involve multiple disciplines. The timing of professional intervention often cross and overlap, intervention and the sequence of treatment had a great influence on the outcome of the treatment. In the meantime, under the premise of the change of national fertility policy, the reproductive needs of families with cleft lip and palate, such as fertility intervention and diagnosis etc., should be paid attention to through the whole chain of pre-pregnant, prenatal and post-natal interventions. Therefore, this paper proposes a multidisciplinary treatment process for the comprehensive diagnosis and treatment of cleft lip and palate. It primarily combs and standardizes the discipline composition, data preparation, consultation contents, personnel, time and technical points of the consultation records of the multidisciplinary treatment in antenatal, postnatal, infant, adolescent, adult and reproductive stages of cleft lip and palate.


Subject(s)
Adolescent , Cleft Lip/therapy , Cleft Palate/therapy , Female , Humans , Pregnancy , Prenatal Diagnosis , Ultrasonography, Prenatal
10.
Article in English | WPRIM | ID: wpr-921395

ABSTRACT

OBJECTIVES@#To study the effect of preoperative prophylactic use of antibiotics on wound infection in patients with cleft lip.@*METHODS@#Aretrospective study was conducted on the clinical data of 1 361 patients who underwent one-stage cleft lip repair in the Department of Cleft Lip and Palate in West China Hospital of Stomatology, Sichuan University, from January 2015 to November 2018. The patients were divided into two groups according to whether prophylactic antibiotics were used or not. There were 594 patients in the prevention group, including 373 unilateral incomplete cleft lip (UICL) patients, 157 unilateral complete cleft lip (UCCL) patients, 25 bilateral incomplete cleft lip (BICL) patients, 39 bilateral complete cleft lip (BCCL) patients. There were 767 patients in the non-prophylactic group, including 482 UICL patients, 211 UCCL patients, 31 BICL patients, 43 BCCL patients. The relationship between preoperative and postoperative leukocyte count, preoperative and postoperative body temperature, and postoperative wound infection were compared between the two groups.@*RESULTS@#No significant difference was observed in the leukocyte count and body temperature between both groups (@*CONCLUSIONS@#The preoperative prophylactic use of antibiotics has no significant effect on the incidence of postoperative infection in patients undergoing cleft lip repair.


Subject(s)
Anti-Bacterial Agents , Cleft Lip/surgery , Cleft Palate/surgery , Humans , Infant , Surgical Wound Infection/prevention & control
11.
Article in English | WPRIM | ID: wpr-921393

ABSTRACT

OBJECTIVES@#Short-term outcome evaluation for the correction of unilateral cleft lip deformity with a new technique.@*METHODS@#Forty-four patients with unilateral cleft lip deformity were included in the study and in which the orbicularis oris muscle was reconstructed to achieve the optimal force balance of reconstructed orbicularis oris. The photometric two-dimensional indexes, including the philtrum oblique angle and asymmetry ratios (lip height, lip width, vertical distance from the white roll to the vermilion bottom at the Cupid's bow point, and vertical distance from the Cupid 's bow points to facial midline), were employed to measure and evaluate the outcome.@*RESULTS@#Several indexes showed statistically significant difference, and they included the philtrum oblique angle, asymmetry ratio of the lip height, and asymmetry ratio of the vertical distance from the white roll to the vermilion bottom at Cupid ' s bow points (@*CONCLUSIONS@#The results suggested that the new muscle reconstruction technique can significantly improve the short-term outcome of the correction of unilateral cleft lip deformity.


Subject(s)
Cleft Lip/surgery , Facial Muscles/surgery , Humans , Lip , Mouth Mucosa , Reconstructive Surgical Procedures
12.
Article in English | WPRIM | ID: wpr-921378

ABSTRACT

OBJECTIVES@#A study was conducted to investigate the clinical effects of oral digital design on the aesthetic restoration of anterior teeth of cleft lip/palate patients.@*METHODS@#Nine adult cleft lip/palate patients who need aesthetic restoration of anterior teeth were recruited. Digital information of patients' dental arches, the surrounding soft tissue and face were captured by digital camera and scanner. The aesthetic analysis and design were conducted using keynote and 3shape software and were demonstrated to the patients. The optimized treatment plan was ensured by communicating with the patients. Digital wax-up models were exported and printed into resin diagnostic models, which were then utilized in the treatment process to guide the doctors and the technicians in tooth preparation and in making the final restorations, respectively. The adhesive procedure was completed after satisfactory try-in. Aesthetics assessment was conducted in accordance with the anterior esthetic evaluation form. The scores of patient's satisfaction were recorded on a questionnaire containing six items of aesthetic index and doctor-patient communication. Patients were interviewed and examined after 1, 3, 6, and 12 months, respectively, and the clinical effects of restorations were evaluated.@*RESULTS@#All nine patients had satisfactory clinical results. The aesthetic defects of the patients were effectively addressed. All treatments met the requirements of the preoperative digital designs. The patients' scores were all above 90 on the satisfaction scale. At 12 months after the operation, the clinical effects of restorations of all cases achieved A class in each evaluation indicator.@*CONCLUSIONS@#For cleft lip/palate patients with esthetic defect in the anterior teeth, the digital design plays an important role in optimizing the treatment plan and guides the whole treatment process. This design can help clinicians achieve predictable satisfactory aesthetic results.


Subject(s)
Adult , Cleft Lip , Cleft Palate , Esthetics , Humans , Tooth
13.
Article in English | WPRIM | ID: wpr-921374

ABSTRACT

OBJECTIVES@#This study aimed to compare the postoperative outcome of the new and classical muscular reconstruction technique combined with nasal internal-fixation method for secondary deformity post unilateral cleft lip repair. A rationale is provided for the further surgical improvement of secondary deformities.@*METHODS@#Sixty patients aged 4-18 years with secondary unilateral cleft lip-nose deformity were involved in this research. The deformities of 28 patients were repaired using the muscular force balance technique through nasal internal fixation method, and 32 were repaired using classical muscular reconstruction technique. Two-dimensional analysis was used to evaluate the nose-lip morphology of pre- and post-operative patients through standardized photographs seven days after surgery.@*RESULTS@#Compared with preoperative nasal morphology in the muscular force balance technique group, the 7-days postoperative results of this group showed the significantly improved short-term outcomes in the correction of columellar deflection, alar rim angle, nasal shape, and the symmetry of alar base width, nostril width, nostril height, alar rim angle (@*CONCLUSIONS@#The new muscular reconstruction technique with nasal internal-fixation method has a significant effect on nasal repair.


Subject(s)
Cleft Lip/surgery , Humans , Nose/surgery , Postoperative Period , Rhinoplasty , Treatment Outcome
14.
Article in Chinese | WPRIM | ID: wpr-888387

ABSTRACT

OBJECTIVE@#Clinical examination and molecular genetic analysis were carried out for one case with special facial features with developmental retardation, hearing impairment and cleft lip and palate.@*METHODS@#The intelligence test, hearing test, and MRI test were performed. At the same time, the blood were collected to detect the copy number variation of the whole genome with the chromosomal karyotype analysis and the chromosomal microarray analysis (CMA). And the whole exome sequencing (WES) was used to analyze the pathogenic variant.@*RESULTS@#The children had mild mental retardation and the IQ was 61. There was moderate hearing loss in both ears(left ear 60 dB, right ear 65 dB). And bilateral horizontal hypoplasia of semicircular canal was found by cranial MRI test. No copy number abnormality was found by chromosome karyotype analysis and chromosome microarray analysis in peripheral blood. And whole exome sequencing suggested that there was heterozygous pathogenic variants in KMT2D gene (p.Leu545Argfs*385).@*CONCLUSION@#The patient has a peculiar face and multiple system defects, and was diagnosed as Niikawa-Kuroki syndrome type I by KMT2D gene variant. The whole exome sequencing is helpful for the diagnosis of complex genetic diseases.


Subject(s)
Abnormalities, Multiple , Child , Cleft Lip , Cleft Palate , DNA Copy Number Variations , Face/abnormalities , Hematologic Diseases , Humans , Vestibular Diseases
15.
Article in Chinese | WPRIM | ID: wpr-888366

ABSTRACT

OBJECTIVE@#To explore the genetic etiology for a fetus with congenital orofacial cleft.@*METHODS@#Single nucleotide polymorphism microarray (SNP array) was carried out on skin tissues sampled from the fetus following induced abortion for the detection of copy number variation (CNVs). Pathogenicity of the candidate gene was validated through experiment.@*RESULTS@#SNP array revealed that the fetus has carried a hemizygous 9.23Mb deletion at Xq21.31-q22.1(91 063 807-100 293 555), which was inherited from its mother. The region contained 13 OMIM genes and 1 ncRNA coding gene(MIR548M). Inhibiting of the expression of the MIR548M gene in oral epithelial celllines has resulted in up-regulation of the expression of SUMO1 gene which was known to involve in the pathogenesis of orofacial cleft.@*CONCLUSION@#Dosage insufficiency of the MIR548M gene may underlie the etiology of orofacial cleft in this fetus.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , DNA Copy Number Variations/genetics , Female , Fetus , Humans , MicroRNAs/genetics , Polymorphism, Single Nucleotide , Pregnancy , SUMO-1 Protein
16.
Article in Chinese | WPRIM | ID: wpr-879521

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).@*METHODS@#With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis. Candidate variant was verified by Sanger sequencing and co-segregation analysis of her family members and 100 unrelated healthy individuals.@*RESULTS@#Whole-exome sequencing and co-segregation analysis showed that all affected members of this pedigree have carried a heterozygous missense c.253A>G (p.Cys85Arg) variant in exon 4 of the IRF6 gene, which has co-segregated with the phenotype and was not found among the 100 unrelated healthy individuals.@*CONCLUSION@#The missense c.253A>G variant in exon 4 of the IRF6 gene probably underlay the NSCLP in this pedigree.


Subject(s)
Brain/abnormalities , China , Cleft Lip/genetics , Cleft Palate/genetics , Female , Humans , Interferon Regulatory Factors/genetics , Mutation, Missense , Pedigree , Whole Exome Sequencing
18.
Article in English | LILACS, BBO | ID: biblio-1250460

ABSTRACT

ABSTRACT Objective: To evaluate the emotional and social experiences of parents or caregivers of children with cleft lip and/or palate (CL/P) in a city in the Northeastern of Brazil. Material and Methods: A quantitative and cross-sectional study was conducted among parents or caregivers of children with CL/P by interviews based on a questionnaire. Interviews were conducted during the First Smile Project in Sobral, Ceará, Brazil. All participants (n=41) agreed to participate in the interview and signed an informed consent. The data was analyzed in SPSS software version 22.0. Results: The majority of participants were female (87.2%), with a mean age of 37 years, with a low level of education and low family income. The great majority (90.2%) of the parents were not prenatally diagnosed to have CL/P babies. Of those interviewed, 56.1% mentioned that the first diagnosis of cleft lip and palate was not presented by the professionals in a clarifying way to the family. Fear (36.6%) and sadness (19.5%) were the main feelings experienced when the child was diagnosed with fissure. Feeding (48.8%) was pointed out as the main concern in caring for a child with CL/P. Conclusion: The parents and caregivers interviewed faced important emotional and social problems that must be addressed by the professional team that assists the child with CL/P.


Subject(s)
Humans , Male , Female , Adult , Parents , Child , Cleft Lip/pathology , Cleft Palate/pathology , Caregivers , Affective Symptoms , Social Problems , Brazil/epidemiology , Cross-Sectional Studies/methods , Surveys and Questionnaires , Data Interpretation, Statistical , Interview , Emotions
19.
Article in English | LILACS, BBO | ID: biblio-1180869

ABSTRACT

ABSTRACT Objective: To evaluate the possible association of a polymorphism in the gene encoding methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), 1958G>A, with the susceptibility to orofacial cleft in an Indonesian population. Material and Methods: A total of 200 stored secondary biological samples from 30 cases of orofacial cleft and 170 unaffected controls were analyzed to determine the polymorphism status at base 1958. The analysis was conducted using the PCR-restriction fragment length polymorphism technique after digestion with the Msp1 restriction enzyme. The samples were then subjected to agarose gel electrophoresis to investigate the presence or absence of the following fragments: genotype GG, 196, 86 and 40 base pairs (bp); genotype AA, 282 and 28 bp and genotype AG, 282, 196, 86, 40 and 28 bp. The test groups were compared using the Chi-square test. Results: The wild-type allele containing 1958G, as well as the genotype GG, were significantly more common in the control group than in the orofacial cleft group. Conclusion: The MTHFD1 1958G>A polymorphism was significantly associated with orofacial cleft susceptibility in the tested Indonesian population.


Subject(s)
Polymorphism, Genetic , Genetic Variation , Cleft Lip/pathology , Cleft Palate/pathology , Methylenetetrahydrofolate Dehydrogenase (NADP) , Polymorphism, Restriction Fragment Length , Chi-Square Distribution , Indonesia
20.
Audiol., Commun. res ; 26: e2419, 2021. tab, graf
Article in Portuguese | LILACS | ID: biblio-1249002

ABSTRACT

RESUMO Objetivo elaborar um website de cunho educacional sobre fissura labiopalatina para profissionais e estudantes da área da saúde. Métodos trata-se de um estudo qualitativo, exploratório, estruturado a partir da proposta de design instrucional, composta por quatro fases: análise e planejamento (busca nas bases científicas), modelagem (estruturação com o conteúdo, ilustrações e questionário), avaliação (por especialistas que atuam na área) e implementação (disponibilização do website). Resultados na fase de análise e planejamento foram encontrados 408 artigos para estruturar os tópicos do website. Na modelagem, o conteúdo foi dividido em 7 seções, criadas 16 imagens estáticas e um questionário avaliativo. Na fase de avaliação, participaram 10 fonoaudiólogas especialistas que sugeriram a manutenção de 7 seções no website. Todas as avaliações com sugestões de modificações que tiveram índice de concordância abaixo de 90% foram atendidas, tanto no conteúdo, como no questionário. Após, o website foi reformulado, assim como o questionário, para futura avaliação dos usuários. O website está disponibilizado em www.fissuralabiopalatina.unb.br. Conclusão por meio da sistemática do design instrucional, o website sobre fissuras labiopalatina foi constituído para a orientação de estudantes, profissionais da área da saúde e população em geral.


ABSTRACT Purpose to create an educational website about cleft lip and palate for healthcare professionals and students. Methods a qualitative and exploratory study structured from a design proposal consisting of the following four phases: analysis and planning (review of scientific data), modeling (structuring with content and illustrations), evaluation (by experts working in the area) and final implementation (website availability). Results in the analysis and planning phase, 408 articles were used to structure the website's topics. In the modeling phase, the content was divided into 7 sections, 16 static images and an evaluative questionnaire were created. In the evaluation phase 10 specialized speech-language pathologists participated and suggested maintaining 7 sections on the website. All evaluations with suggestions for modifications that had an agreement index below 90% were met, both in content and in the questionnaire. Afterward, the website and questionnaire were updated for future user evaluation. The website is available at www.fissuralabiopalatina.unb.br. Conclusion we concluded that through systematic instructional design the website about cleft lip and palate was created for the orientating students, healthcare professionals and the public alike.


Subject(s)
Computer Communication Networks , Cleft Lip , Cleft Palate , Education, Distance , Health Education , Speech, Language and Hearing Sciences
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