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1.
PLoS One ; 16(8): e0244909, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34383758

RESUMO

The extent of dysfunction of the Eustachian tube (ET) is relevant in understanding the pathogenesis of secondary otological diseases such as acute or chronic otitis media. The underlying mechanism of ET dysfunction remains poorly understood except for an apparent genesis such as a nasopharyngeal tumor or cleft palate. To better describe the ET, its functional anatomy, and the biomechanical valve mechanism and subsequent development of diagnostic and interventional tools, a three-dimensional model based on thin-layer histology was created from an ET in this study. Blackface sheep was chosen as a donor. The 3-D model was generated by the coherent alignment of the sections. It was then compared with the cone-beam computed tomography dataset of the complete embedded specimen taken before slicing. The model shows the topographic relation of the individual components, such as the bone and cartilage, the muscles and connective tissue, as well as the lining epithelium with the lumen. It indicates a limited spiraling rotation of the cartilaginous tube over its length and relevant positional relationships of the tensor and levator veli palatine muscles.


Assuntos
Tuba Auditiva/fisiopatologia , Animais , Cartilagem/fisiopatologia , Fissura Palatina/fisiopatologia , Otopatias/fisiopatologia , Neoplasias Nasofaríngeas/fisiopatologia , Otite Média/fisiopatologia , Otite Média com Derrame/fisiopatologia , Músculos Palatinos/fisiopatologia , Ovinos/fisiologia
2.
Nutr Hosp ; 38(2): 410-417, 2021 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-33624504

RESUMO

Introduction: Introduction: in children with cleft lip and/or palate nutritional status and growth may be impaired due to early life feeding difficulties. Objective: to review the existing literature on the nutritional prognosis during childhood of patients undergoing surgery for cleft lip and/or palate (CLP), their body composition and growth patterns from 2 to 10 years of age, and the possible effects of their early nutritional status on the long-term onset of overweight. Methods: a systematic search of growth and body composition parameters in 2-10 year-old CLP children, including cross-sectional and longitudinal studies, and using the Pubmed and Scopus databases. From the 2,983 retrieved articles, 6 were finally included. Results: two studies out of 6 were longitudinal and the other 4 were cross-sectional, including very heterogeneous samples. Weight and height were used as growth parameters in 2 studies; 2 studies used body mass index (BMI); and the remaining 2 used indexes of nutritional status derived from anthropometric measures. The studies showed discrepancies among results: 3 of them found growth differences between children with CLP and their counterparts, whereas the other 3 did not. The two longitudinal studies did not show any significant differences between the mean BMI z-scores or growth curves of cleft patients and their counterparts. When differences existed, the most affected group was that under 5 years, syndromic children, and adopted children with CL/P. Conclusions: the literature is scarce comparing growth patterns between children with CLP and controls, and results cannot confirm that children with CLP aged 2-10 years, excluding those with syndromes or belonging to vulnerable populations, have different growth patterns or a worse nutritional status than their counterparts.


Assuntos
Composição Corporal , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Crescimento/fisiologia , Estatura , Índice de Massa Corporal , Peso Corporal , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Estudos Longitudinais , Masculino , Estado Nutricional , Prognóstico , Fatores Socioeconômicos
3.
BMC Pregnancy Childbirth ; 21(1): 100, 2021 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-33516176

RESUMO

BACKGROUND: Appropriate breastfeeding is vital for infant and young child nutrition. Annually, oral clefts affect 0.73 per 1000 children in Uganda. Despite this low incidence, children with a cleft face breastfeeding difficulty which affect their nutrition status. In addition, knowledge on maternal experiences with breastfeeding and support is limited. We explored maternal perceptions, experiences with breastfeeding and support received for their children 0 to 24 months with a cleft attending Comprehensive Rehabilitative Services of Uganda (CoRSU) Hospital. METHODS: This cross-sectional study combined quantitative and qualitative methods. We consecutively recruited 32 mothers of children with a cleft aged 0 to 24 months attending CoRSU hospital between April and May 2018. A structured questionnaire collected data on breastfeeding practices and device use (n = 32). To gain a broad understanding of mothers' perceptions and experiences with breastfeeding and support received, we conducted two Focus Group Discussions (in each, n = 5), and 15 In Depth Interviews. Descriptive statistics were analyzed using SPSS software. Qualitative data were analyzed thematically. RESULTS: Of the 32 children with a cleft, 23(72%) had ever breastfed, 14(44%) were currently breastfeeding, and among those under 6 months, 7(35%) exclusively breastfed. Of 25 mothers interviewed in IDIs and FGDs, 17(68%; IDIs = 8/15, FGD1 = 5/5 and FGD2 = 4/5) reported the child's failure to latch and suckle as barriers to breastfeeding. All ten mothers who used the soft squeezable bottle reported improved feeding. Nineteen (76%) mothers experienced anxiety and 14(56%), social stigma. Family members, communities and hospitals supported mothers with feeding guidance, money, child's feeds and psycho-social counselling. Appropriate feeding and psycho-social support were only available at a specialized hospital which delayed access. CONCLUSIONS: Breastfeeding practices were sub-optimal. Mothers experienced breastfeeding difficulties, anxiety and social stigma. Although delayed, feeding, social and psycho-social support helped mothers cope. Routine health care for mothers and their children with a cleft should include timely support.


Assuntos
Aleitamento Materno , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Mães/psicologia , Apoio Social , Adulto , Estudos Transversais , Feminino , Grupos Focais , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Entrevistas como Assunto , Masculino , Estado Nutricional , Pesquisa Qualitativa , Uganda , Adulto Jovem
4.
Sci Rep ; 10(1): 20699, 2020 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-33244089

RESUMO

In the context of cleft repair in animal research in rat models, different areas can be used for bone grafting. The aim of the present study was to present the tuberosity of the ischium as a new donor site and to evaluate its quality in relation to an artificial alveolar cleft. Four weeks after creating experimental alveolar clefts in seven Wistar rats, the repair was performed in the now twelve-week-old male animals using bone blocks grafted from the ischial tuberosity. Two days before surgery and two as well as twenty-eight days after surgery, microCT scans were performed, and the grafted bone blocks were analyzed regarding height, width, thickness, and volume. Additionally, bone mineral density (BMD) and bone volume fraction (BV/TV) were measured in the repaired cleft. The mean bone volume of the graft was about 19.77 ± 7.77mm3. Immediately after jaw reconstruction the BMD and BV/TV were about 0.54 ± 0.05 g/cm3 and 54.9 ± 5.07% for the transplant and about 1.13 ± 0.08 g/cm3 and 94.5 ± 3.70%, respectively, for the surrounding bone. Four weeks later the BMD and BV/TV were about 0.57 ± 0.13 g/cm3 and 56.60 ± 13.70% for the transplant and about 11.17 ± 0.07 g/cm3 and 97.50 ± 2.15%, respectively, for the surrounding bone. A hip fracture was found in four of the animals after surgery. The ischial tuberosity offers large bone blocks, which are sufficient for cleft repair in the rat model. However, the bone quality regarding BMD and BV/TV is less compared with the surrounding bone of the alveolar cleft, even after a period of 4 weeks, despite recognizable renovation processes.


Assuntos
Transplante Ósseo/métodos , Fissura Palatina/fisiopatologia , Fissura Palatina/cirurgia , Ísquio/fisiopatologia , Experimentação Animal , Animais , Densidade Óssea/fisiologia , Nádegas/fisiopatologia , Masculino , Ratos , Ratos Wistar , Microtomografia por Raio-X/métodos
5.
Comput Methods Biomech Biomed Engin ; 23(16): 1360-1376, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32873066

RESUMO

Maxillary protraction and expansion is recommended to treat midfacial deficiency in patients with cleft lip and palate (CLP), where amount and direction of forces can change displacement and stress. This study assessed the initial displacement and stresses using Facemask and Maxgym forces with and without RME at +20∘, 0∘, and -20∘ angulation using a finite element (FE) model of unilateral cleft lip and palate (UCCLP). The Initial displacement and stress were more for protraction with expansion as compared to only protraction. Asymmetric displacement was observed with more on cleft than on noncleft side and more on dental than skeletal structures. Palatal plane rotated less upward, increased arch width and decreased arch length was observed with protraction with expansion.


Assuntos
Fenda Labial/fisiopatologia , Fenda Labial/terapia , Fissura Palatina/fisiopatologia , Fissura Palatina/terapia , Análise de Elementos Finitos , Imageamento Tridimensional , Técnica de Expansão Palatina , Fenômenos Biomecânicos , Módulo de Elasticidade , Aparelhos de Tração Extrabucal , Humanos , Estresse Mecânico
6.
J Healthc Eng ; 2020: 8828006, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32908658

RESUMO

Aim: The aim of this study was to evaluate the electrical activity of the masticatory muscles in children with a bilateral complete cleft lip and palate (BCCLP) and posterior crossbite as well as in noncleft subjects with no malocclusion. Another purpose of the study was to examine the possible factors associated with this muscle activity. Methods: The study included 52 children with mixed dentition and Class I occlusions (20 patients with nonsyndromic BCCLP and 32 subjects with no clefts). All the cleft patients had posterior crossbite. The surface electromyography (sEMG) was used to identify the electrical potentials of the temporalis and masseter muscles. The electromyographical (EMG) recordings were taken with a DAB-Bluetooth Instrument (zebris Medical GmbH, Germany) at rest and during maximum voluntary clenching (MVC). The relationships between muscle EMG activity and independent variables were identified through multivariate logistic regression analysis. Results: The EMG activity of the temporalis muscles at rest was significantly higher in BCCLP patients with malocclusion in comparison with the noncleft subjects with normal occlusion. During MVC, significantly lower electrical potentials of the temporalis and masseter muscles were observed in cleft patients compared to the noncleft group. The presence of BCCLP, unilateral posterior crossbites, increased vertical overlap, and increased overjet are factors strongly associated with higher temporalis muscle EMG activity at rest. Conclusion: The use of surface electromyography in imaging muscle function showed that children with BCCLP and posterior crossbite exhibited altered masticatory muscle potentials at rest and during clenching. The presence of unilateral posterior crossbites, increased vertical overlap, and increased overjet had a significant impact on temporalis muscle activity in cleft patients. This knowledge is important in the aspect of early and proper diagnosis and orthodontic treatment of malocclusions, thereby achieving correct occlusion and improvement in muscle function.


Assuntos
Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Eletromiografia/métodos , Má Oclusão/fisiopatologia , Criança , Eletrofisiologia , Feminino , Humanos , Masculino , Músculo Masseter/fisiopatologia , Análise Multivariada , Contração Muscular/fisiologia , Ortodontia , Palato/fisiopatologia , Músculo Temporal/fisiopatologia
7.
J Mater Sci Mater Med ; 31(9): 79, 2020 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-32816120

RESUMO

This study examined the potential for dental magnets to act as a driving force for osteogenesis in the palate of newborns with a unilateral cleft lip and palate. In the first part of the study dental magnets were arranged in a set up mimicking a distraction device and the curves of the magnetic attraction force versus gap distance curves generated, with and without the presence of palatal rugae tissue in between both sides of the distraction device. The attraction forces ranged from 1 to 12 N depending on the gap distance and the presence of soft tissue in the gap. In the second part of the study these forces were used as input for a 3D finite element model of the palate of a newborn affected by unilateral cleft lip and palate. In the analysis of load transfer, it was found that the strains generated by a magnetically induced distraction exceed 1,500 µstrain suggesting that bone locally is submitted to mild overload leading to bone apposition.


Assuntos
Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Implantes Dentários , Fenômenos Magnéticos , Osteogênese/fisiologia , Fenômenos Biomecânicos , Osso e Ossos/patologia , Desenho de Equipamento , Análise de Elementos Finitos , Humanos , Recém-Nascido , Magnetismo , Imãs , Teste de Materiais , Pressão , Estresse Mecânico , Resistência à Tração
8.
J Otolaryngol Head Neck Surg ; 49(1): 54, 2020 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-32736586

RESUMO

OBJECTIVE: To identify and describe the dynamic features of velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome relative to patients with non-syndromic cleft palates. STUDY DESIGN: Retrospective case-control study. SETTING: Pediatric tertiary care center. SUBJECTS AND METHODS: A total of 30 children (aged 9-16 years) with VPD were included in this study. Fifteen children with a definitive diagnosis of 22q11.2 deletion syndrome requiring surgical VPD repair were included in the 22q11.2 deletion syndrome group. Fifteen age- and sex-matched children with non-syndromic cleft palate requiring surgical VPD repair were included in the non-syndromic cleft palate group for comparison. Velar displacement, lateral pharyngeal wall displacement, and lateral pharyngeal wall motion pattern data were extracted from preoperative Multiview Videofluoroscopy imaging studies of all children and compared across groups. RESULTS: Lateral pharyngeal wall displacement was found to be reduced in the 22q11.2 deletion syndrome group (U = 29.50, p = .001, r = .63). However, measures of velar displacement were not observed to differ between groups. Similarly, lateral pharyngeal wall motion pattern distributions were not found to differ across these two groups. CONCLUSIONS: Velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome showed differences in dynamic velopharyngeal function when compared to non-syndromic cleft palate patients. The current findings provide initial insights into the unique aspects of velopharyngeal dysfunction for patients with 22q11.2 deletion syndrome. These findings may guide further efforts directed toward understanding the dynamic velopharyngeal characteristics of this population and potentially optimize surgical management and functional outcomes.


Assuntos
Fissura Palatina/fisiopatologia , Síndrome de DiGeorge/fisiopatologia , Faringe/fisiopatologia , Insuficiência Velofaríngea/fisiopatologia , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Estudos Retrospectivos , Insuficiência Velofaríngea/cirurgia
9.
J Craniofac Surg ; 31(6): 1668-1671, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32604304

RESUMO

The cleft lip and palate (CL/P) define a heterogeneous group of congenital deformities, which are morphologically highly diverse, with a complex and multifactorial etiology. Affected children may experience social problems due to negative effects on speech, hearing, facial appearance, as well as negative psychological effects on the parents. In 2011, after the civil war began in Syria, a great wave of immigration began to Turkey and other neighboring countries. Refugees may not be able to receive optimal health care because of cultural differences, socioeconomic status, language problems, and psychosocial problems. To increase awareness about this issue, the authors investigated the demographic, perioperative, and post-operative data of Syrian refugee patients with CL/P who were admitted to our cleft center between January 2016 and May 2019. Sixty-eight refugees with CL/P were detected as the result of the screening. Unlike the protocol the authors follow in our center, cleft lip repair was performed at an average of 7.6 months and cleft palate repair was performed at an average of 28.7 months of age. The rate of fistula was found 26.2%.The civil war in Syria has caused the repair of the patients with cleft lip and palate at a later age, hampered the follow-up and treatment, and caused more complications. Considering the demographic, social, economic and cultural characteristics of the patients, it was demonstrated that the necessary health precautions and infrastructure should be provided on the pillar of plastic surgery.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Pré-Escolar , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Demografia , Feminino , Humanos , Lactente , Masculino , Pais , Período Perioperatório , Procedimentos Cirúrgicos Reconstrutivos , Refugiados , Fala , Síria , Turquia
10.
Int J Pediatr Otorhinolaryngol ; 137: 110188, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32682165

RESUMO

OBJECTIVE: The purpose of this study was to measure the nasal airflow resistance of operated unilateral cleft lip and palate (UCLP) patients using the anterior rhinomanometry method compared with non-cleft skeletal class III individuals with isolated maxillary hypoplasia serving as the control group. MATERIAL&METHODS: Sixteen UCLP patients who have undergone lip and palate reconstructions and alveolar cleft grafting but not advanced surgeries as the study group and 16 non-cleft skeletal class III participants as the control group (corresponded for age and sex to the study group) were included in this prospective study. All of the patients had class III occlusion due to isolated maxillary hypoplasia. Nasal airflow was measured with anterior rhinomanometry (in ml/sec) for each nostril separately. For evaluation of nasal side subgroups of the UCLP group for nasal resistance, the cleft sides and non-cleft sides of individuals were examined in two separate groups. The nasal side resistance of the control group was evaluated as the average of both nasal side resistances. The nasal resistances for nasal sides and total nasal resistance were measured in Pa/L/sec. The observed data were analyzed using Kolmogorov-Smirnov test used for normality, and the Student t-test and Mann Whitney U test used to determine the differences between the groups. P values of <0.05 were considered statistically significant. RESULTS: As the primary outcome of this study, it was found that both the cleft sides and non-cleft sides of the UCLP individuals had statistically significantly higher nasal resistance than the healthy skeletal class III control group (p < 0.05). It was revealed that the cleft side had more nasal resistance than the non-cleft side for both inspiration and expiration, but the results were not statistically significant (p = 0.41/p = 0.28). CONCLUSION: The results showed that operated UCLP patients have nasal resistance and breathing problems, even when lip, palate, and alveolar cleft operations have been performed.


Assuntos
Resistência das Vias Respiratórias , Fenda Labial/fisiopatologia , Fenda Labial/cirurgia , Fissura Palatina/fisiopatologia , Fissura Palatina/cirurgia , Adolescente , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Cavidade Nasal/fisiopatologia , Estudos Prospectivos , Rinomanometria , Adulto Jovem
11.
Mech Dev ; 163: 103632, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32668265

RESUMO

Valproic acid (VPA) is an anti-epileptic drug known to cause congenital craniofacial abnormalities, including orofacial clefts (OFC). The exact mechanisms by which VPA leads to craniofacial skeletal malformations are poorly understood. In this study, we investigated the effects of VPA on cartilage and bone formation in the zebrafish larval head during 1-13 hpf (early) and 25-37 hpf (late) development in which cranial neural crest cells (CNCCs) arise and then proliferate and differentiate, respectively. Double-staining for cartilage and bone at 5 dpf revealed that VPA reduced cartilage and bone formation in a dose-dependent manner after both early or late exposure. Several different CNCC-derived cartilage and bone elements were affected in both groups. In the early group (100 µM VPA), the posterior head length and the ethmoid plate were reduced in length (both p < 0.01), while mineralization of 4 out of 9 bone elements was often lacking (all p < 0.01). In the late group (100 µM VPA), also the posterior head length was reduced as well as the length of the ceratohyals (both p < 0.01). Similar to early exposure, mineralization of 3 out of 9 bone elements was often lacking (all p < 0.01). These results indicate that both CNCC formation (early) and differentiation (late) are hampered by VPA treatment, of which the consequences for bone and cartilage formation are persistent at 5 dpf. Indeed, we also found that the expression of several genes related to cartilage and bone was upregulated at 5 dpf. These data indicate a compensatory reaction to the lack of cartilage and bone. Altogether, VPA seems to induce craniofacial malformations via disturbed CNCC function leading to defects in cartilage and bone formation.


Assuntos
Cartilagem/anormalidades , Crânio/anormalidades , Ácido Valproico/farmacologia , Proteínas de Peixe-Zebra/genética , Animais , Cartilagem/efeitos dos fármacos , Cartilagem/crescimento & desenvolvimento , Cartilagem/patologia , Diferenciação Celular/efeitos dos fármacos , Condrogênese/efeitos dos fármacos , Condrogênese/genética , Fenda Labial/induzido quimicamente , Fenda Labial/genética , Fenda Labial/fisiopatologia , Fissura Palatina/induzido quimicamente , Fissura Palatina/genética , Fissura Palatina/fisiopatologia , Embrião não Mamífero , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Cabeça/anormalidades , Cabeça/fisiopatologia , Humanos , Larva/efeitos dos fármacos , Larva/genética , Larva/crescimento & desenvolvimento , Crista Neural/efeitos dos fármacos , Crista Neural/crescimento & desenvolvimento , Crista Neural/patologia , Crânio/crescimento & desenvolvimento , Ácido Valproico/efeitos adversos , Peixe-Zebra/genética , Peixe-Zebra/crescimento & desenvolvimento
12.
J Appl Oral Sci ; 28: e20190628, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32520078

RESUMO

OBJECTIVE: The study of dental development in individuals born with cleft lip and palate (CLP) serves to determine when orthodontic intervention should start. To evaluate the permanent second molar development in children born with cleft lip and palate according to Demirjian's and Nolla's methods. METHODOLOGY: Out of a total of 513 digital panoramic radiographs, 113 pairs of children aged 3 to 16 years were selected. The exams were from children born with or without cleft lip and palate, of the same sex, with an age difference of up to 30 days. The images were analyzed by three examiners and reliability was checked through intra-examiner agreement by the Kappa test. The data were analyzed by Wilcoxon's and Mann-Whitney tests according to each dataset. RESULTS: The findings indicated delayed development of the permanent second molars in children with CLP (P<0.001). The development of the right permanent second molar was delayed compared to the left molar in children with CLP. Moreover, mandibular teeth showed significantly earlier development than maxillary teeth in both the case and control groups. There was no significant difference in the development of permanent second molars between sexes. CONCLUSION: Children with CLP presented delay in the development of permanent second molars.


Assuntos
Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Dentição Permanente , Dente Molar/crescimento & desenvolvimento , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Dente Molar/diagnóstico por imagem , Valores de Referência , Fatores Sexuais , Estatísticas não Paramétricas
13.
Immunol Med ; 43(3): 130-134, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32511082

RESUMO

The aim of the work was a comprehensive assessment of the cytokine system and peripheral blood osteocalcin with the establishment of features of their interconnections in children with congenital cleft lip and palate (CCLP) in comparison with corresponding controls at different age periods. Levels of IL17, IL4, IL6, IL1ß, IFNγ and osteocalcin were analyzed by enzyme immunoassay in the peripheral blood of 80 children (0-12 months, 1-3 years, 4-9 years, 10-15 years) with CCLP and age-appropriate control of healthy individuals (40 people). An analysis of the obtained data shows that in children with CCLP we revealed significant differences between pro-inflammatory (IL1ß, IL6, IL17), regulatory (IFNγ), anti-inflammatory (IL4) cytokines and osteocalcin compared with controls. Differences were found in the content of IL17, IFNγ, IL4 and osteocalcin in healthy children and in children with CCLP in postnatal ontogenesis. Cytokine deregulation of immunosteogenesis in CCLP, leading to a significant deficit of osteocalcin in the first year of life due to imbalance of the cytokine profile: discordant IL17, IFNγ and IL4 were detected. Obtained data are undoubtedly important in the future for developing new strategies for targeted therapy aimed at normalizing osteocalcin levels at different age periods in children with CCLP.


Assuntos
Fenda Labial/imunologia , Fissura Palatina/imunologia , Citocinas/sangue , Mediadores da Inflamação/sangue , Osteocalcina/sangue , Osteogênese/imunologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Fenda Labial/sangue , Fenda Labial/fisiopatologia , Fissura Palatina/sangue , Fissura Palatina/fisiopatologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lactente , Recém-Nascido , Interferon gama/sangue , Interleucina-17/sangue , Interleucina-1beta , Interleucina-4/sangue , Interleucina-6/sangue , Masculino
14.
Biomed Eng Online ; 19(1): 36, 2020 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-32460765

RESUMO

BACKGROUND: Pharyngeal fricative is one typical compensatory articulation error of cleft palate speech. It passively influences daily communication for people who suffer from it. The automatic detection of pharyngeal fricatives in cleft palate speech can provide information for clinical doctors and speech-language pathologists to aid in diagnosis. RESULTS: This paper proposes two features (CSIFs: correlation of signals in independent frequency bands; OSPP: octave spectrum prominent peak) to detect pharyngeal fricative speech. CSIFs feature is proposed to detect the distribution characteristics of frequency components in pharyngeal fricative speech caused by the changed place of articulation and movement of articulators. While OSPP is presented to reflect the concentration degree of prominent peak which is closely related to the place of articulation in pharyngeal fricative, both features are investigated to relate to the altered production process of pharyngeal fricative. To evaluate the capability of these two features to detect pharyngeal fricative, we collected a speech database covering all the types of initial consonants in which pharyngeal fricatives occur. In this detection task, the classifier used to discriminate pharyngeal fricative speech and normal speech is based on ensemble learning. CONCLUSION: The detection accuracy obtained with CSIFs and OSPP features ranges from 83.5 to 84.5% and from 85 to 87%, respectively. When these two features are combined, the detection accuracy for pharyngeal fricative speech ranges from 88 to 89%, with an AUC (area under the receiver operating characteristic curve) value of 93%.


Assuntos
Acústica , Fissura Palatina/fisiopatologia , Faringe , Fonética , Processamento de Sinais Assistido por Computador , Fala/fisiologia , Humanos , Aprendizado de Máquina
15.
Artigo em Inglês | MEDLINE | ID: mdl-32357522

RESUMO

BACKGROUND: Vocabulary skills in infants with cleft lip and/or palate (CL/P) are related to various factors. They remain underexplored among Mandarin-speaking infants with CL/P. This study identified receptive and expressive vocabulary skills among Mandarin-speaking infants with unrepaired CL/P prior to cleft palate surgery and their associated factors. METHODS: This is a cross-sectional study involving patients at the Cleft Lip and Palate Center of the Stomatological Hospital of Xi'an Jiaotong University between July 2017 and December 2018. The Putonghua Communicative Development Inventories-Short Form (PCDI-SF) was used to assess early vocabulary skills. RESULTS: A total of 134 children aged 9-16 months prior to cleft palate surgery were included in the study. The prevalences of delays in receptive and expressive vocabulary skills were 72.39% (95% CI: 64.00-79.76%) and 85.07% (95% CI: 77.89-90.64%), respectively. Multiple logistic regression identified that children aged 11-13 months (OR = 6.46, 95% CI: 1.76-23.76) and 14-16 months (OR = 24.32, 95% CI: 3.86-153.05), and those with hard/soft cleft palate and soft cleft palate (HSCP/SCP) (OR = 5.63, 95% CI: 1.02-31.01) were more likely to be delayed in receptive vocabulary skills. CONCLUSIONS: Delays in vocabulary skills were common among Mandarin-speaking CL/P infants, and age was positively associated with impaired and lagging vocabulary skills. The findings suggest the necessity and importance of early and effective identification of CL/P, and early intervention programs and effective treatment are recommended for Chinese CL/P infants.


Assuntos
Fenda Labial , Fissura Palatina , Fala , Desenvolvimento Infantil , Fenda Labial/fisiopatologia , Fenda Labial/cirurgia , Fissura Palatina/fisiopatologia , Fissura Palatina/cirurgia , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Palato Mole , Vocabulário
16.
Codas ; 32(4): e20190152, 2020.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32401996

RESUMO

Purpose This study investigated the influence of the cleft type on the appearance of hypernasality after surgical maxillary advancement (MA). Methods Nasality was determined by measurement of nasalance (acoustic correlate of nasality) by nasometry. The study involved analysis of the nasalance scores of 17 individuals with isolated cleft palate (CP), 118 with unilateral cleft lip and palate (UCLP) and 69 with bilateral cleft lip and palate (BCLP), of both sexes, aged 18 to 28 years, after MA. Only individuals with normal nasalance scores indicating balanced resonance before MA were included in this study. Nasometry was performed 3 days before and 15 months after MA, on average. The proportion of patients who presented nasalance scores indicating hypernasality after surgery was calculated by the ANOVA test, and comparison among the different cleft types was evaluated by the chi-square test (p < 0.05). Results No significant difference was found in the proportions of individuals with hypernasality among the cleft types. Conclusion Nasometry showed that the appearance of hypernasality after MA in individuals with cleft palate with or without cleft lip occurred in similar proportions, regardless of the cleft type.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Procedimentos Cirúrgicos Ortognáticos/efeitos adversos , Distúrbios da Fala/etiologia , Fala/fisiologia , Insuficiência Velofaríngea/etiologia , Adolescente , Adulto , Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Feminino , Humanos , Masculino , Maxila/cirurgia , Osteotomia de Le Fort/efeitos adversos , Estudos Retrospectivos , Distúrbios da Fala/fisiopatologia , Medida da Produção da Fala , Insuficiência Velofaríngea/fisiopatologia , Adulto Jovem
17.
Plast Reconstr Surg ; 146(3): 589-598, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32459728

RESUMO

BACKGROUND: No consensus exists on the selection of procedures for the treatment of submucous cleft palate, with scarce reports on long-term outcomes from single-surgeon experience. This study assessed the outcomes of using extended indication criteria of Furlow palatoplasty as the first-line procedure for the management of submucous cleft palate-associated velopharyngeal insufficiency. METHODS: Consecutive nonsyndromic patients with submucous cleft palate (n = 216) treated by a single surgeon between 1998 and 2018 were reviewed. Furlow palatoplasty was performed in all patients diagnosed with submucous cleft palate-associated velopharyngeal insufficiency, regardless of the age cutoff, number of Calnan triad features, or velopharyngeal gap size and pattern. Postoperative velopharyngeal function outcome (adequate, marginal, or inadequate) and the need for secondary surgery were investigated. Age at surgery, sex, submucous cleft palate type (classic and occult), and presence of complication were evaluated for potential associations with this outcome. RESULTS: Forty-seven patients aged 8.3 ± 4.6 years with occult submucous cleft palate were significantly (p < 0.001) older than those with the classic type (n = 169; 5.6 ± 3.1 years). Most (p < 0.001) of the included patients [n = 181 (83.8 percent)] achieved adequate postoperative velopharyngeal function outcome. Three patients (1.4 percent) presented surgery-related complications, including bleeding and partial wound disruption. Secondary speech surgery was recommended in 24 patients (11.1 percent). In the bivariate and multivariate analyses, none of the tested variables was found to be associated (all p > 0.05) with the postoperative velopharyngeal function outcome. CONCLUSION: The extended indication criteria of Furlow palatoplasty provided adequate velopharyngeal insufficiency management with a low complication rate and satisfactory speech outcome. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.


Assuntos
Fissura Palatina/cirurgia , Palato Mole/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Fala/fisiologia , Insuficiência Velofaríngea/reabilitação , Pré-Escolar , Fissura Palatina/complicações , Fissura Palatina/fisiopatologia , Feminino , Seguimentos , Humanos , Masculino , Palato Mole/fisiopatologia , Período Pós-Operatório , Estudos Retrospectivos , Insuficiência Velofaríngea/etiologia , Insuficiência Velofaríngea/fisiopatologia
18.
Hum Mol Genet ; 29(11): 1900-1921, 2020 07 21.
Artigo em Inglês | MEDLINE | ID: mdl-32196547

RESUMO

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signalling. Due to advances in next-generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome albeit only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants from nine families presenting with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardiac anomalies, limb dysmorphologies and neurodevelopmental disorders. Using conditional deletions in mice as well as CRISPR/Cas9 approaches to target CTNND1 in Xenopus, we identified a subset of phenotypes that can be linked to p120-catenin in epithelial integrity and turnover, and additional phenotypes that suggest mesenchymal roles of CTNND1. We propose that CTNND1 variants have a wider developmental role than previously described and that variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader velocardiofacial-like syndrome.


Assuntos
Cateninas/genética , Fenda Labial/genética , Fissura Palatina/genética , Anormalidades Craniofaciais/genética , Ectrópio/genética , Cardiopatias Congênitas/genética , Anormalidades Dentárias/genética , Adolescente , Adulto , Animais , Anodontia/diagnóstico por imagem , Anodontia/genética , Anodontia/fisiopatologia , Criança , Pré-Escolar , Fenda Labial/diagnóstico por imagem , Fenda Labial/fisiopatologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/fisiopatologia , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/fisiopatologia , Modelos Animais de Doenças , Ectrópio/diagnóstico por imagem , Ectrópio/fisiopatologia , Feminino , Predisposição Genética para Doença , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/fisiopatologia , Humanos , Masculino , Camundongos , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/fisiopatologia , Xenopus , Adulto Jovem
19.
J Craniofac Surg ; 31(3): e291-e296, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32068730

RESUMO

BACKGROUND AND AIMS: Between 1997 and 2014, 3 protocols have been used in out cleft unit for primary repair of unilateral cleft lip and palate. During the Scandcleft randomized controlled trial closing the soft palate and lip at 4 months and the hard palate at 12 months (Protocol 1) was compared with closing the entire palate at 12 months (Protocol 2). Protocol 3 comprises closure of the lip and hard palate with a vomer flap at 4 months and the soft palate at 10 months. The purpose of this study was to compare subsequent velopharyngeal competence at age of 3 and 5 years. PATIENTS AND METHODS: The study consisted of 160 non-syndromatic patients with a unilateral cleft lip and palate. Protocol 3 was retrospectively compared with Protocols 1 and 2 within the previously published Scandcleft study. RESULTS: At 3 years of age, normal or borderline competent velopharyngeal function was found in 68% of patients in Protocol 1, 74% of patients in Protocol 2, and 72% of patients in Protocol 3. At 5 years of age, the corresponding figures were 84%, 82%, and 92%. 21% of patients in Protocol 1, 4% in Protocol 2, and 23% in Protocol 3 had palatal reoperations before the age of 5 years. CONCLUSION: No significant differences emerged in velopharyngeal competence at age 3 years between the 3 protocols. Palatal reoperations were performed earlier in patient groups 1 and 3, explaining the difference in the velopharyngeal competence rate at the 5-year time-point.


Assuntos
Fenda Labial/fisiopatologia , Fissura Palatina/fisiopatologia , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Seguimentos , Humanos , Masculino , Palato Duro/cirurgia , Palato Mole/cirurgia , Procedimentos Cirúrgicos Reconstrutivos , Estudos Retrospectivos , Fala , Retalhos Cirúrgicos/cirurgia , Vômer/cirurgia
20.
PLoS One ; 15(1): e0227686, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31917818

RESUMO

OBJECTIVE: Speech intelligibility is fundamental to social interactions and a critical surgical outcome in patients with cleft palate. Online crowdsourcing is a burgeoning technology, with potential to mitigate the burden of limited accessibility to speech-language-pathologists (SLPs). This pilot study investigates the concordance of online crowdsourced evaluations of hypernasality with SLP ratings of children with cleft palate. METHODS: Six audio-phrases each from children with cleft palate were assessed by online crowdsourcing using Amazon Mechanical Turk (MTurk), and compared to SLP's gold-standard hypernasality score on the Pittsburgh Weighted Speech Score (PWSS). Phrases were presented to MTurk crowdsourced lay-raters to assess hypernasality on a Likert scale analogous to the PWSS. The survey included clickable reference audio samples for different levels of hypernasality. RESULTS: 1,088 unique online crowdsourced speech ratings were collected on 16 sentences of 3 children with cleft palate aged 4-8 years, with audio averaging 6.5 years follow-up after cleft palate surgery. Patient 1 crowd-mean was 2.62 (SLP rated 2-3); Patient 2 crowd-mean 2.66 (SLP rated 3); and Patient 3 crowd-mean 1.76 (SLP rated 2). Rounded for consistency with PWSS scale, all patients matched SLP ratings. Different sentences had different accuracies compared to the SLP gold standard scores. CONCLUSION: Online crowdsourced ratings of hypernasal speech in children with cleft palate were concordant with SLP ratings, predicting SLP scores in all 3 patients. This novel technology has potential for translation in clinical speech assessments, and may serve as a valuable screening tool for non-experts to identify children requiring further assessment and intervention by a qualified speech language pathology expert.


Assuntos
Fissura Palatina/fisiopatologia , Fissura Palatina/cirurgia , Crowdsourcing , Inteligibilidade da Fala , Medida da Produção da Fala/métodos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Acústica da Fala , Patologia da Fala e Linguagem , Resultado do Tratamento
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