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1.
Multimedia | Recursos Multimídia | ID: multimedia-12933

RESUMO

O novo episódio do “Fala, autor!”, podcast exclusivo da revista Residência Pediátrica (RP), aborda o tema “Os desafios e estratégias para amamentação no recém-nascido com fissura labiopalatine”. Para falar sobre o assunto, o programa convidou a dra. Ana Paula Matzenbacher Ville. A estudante já participou da diretoria da Liga Acadêmica de Pediatria da Sociedade Paranaense de Pediatria (LIAP/SPP) e da diretoria de Liga Acadêmica de Neonatologia do Hospital Maternidade Santa Brígida, em Curitiba.


Assuntos
Aleitamento Materno , Recém-Nascido , Fissura Palatina , Webcast
2.
BMC Oral Health ; 24(1): 185, 2024 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-38317147

RESUMO

BACKGROUND: The study aimed to investigate the association between maternal cocaine abuse during pregnancy and the prevalence of cleft lip/palate (CL/P) in offspring, synthesizing existing evidence through a systematic review and meta-analysis. CL/P is a congenital craniofacial anomaly with complex etiology, and prior research has suggested potential links between maternal cocaine use and CL/P. However, these associations remain inconclusive. METHODS: A comprehensive literature search was conducted to identify relevant studies published up to the study's cutoff date in September 2021. Several databases were systematically searched using predefined search terms. Inclusion criteria were set to encompass studies reporting on the prevalence of CL/P in infants born to mothers with a history of cocaine use during pregnancy, with a comparison group of non-cocaine-using mothers. Data were extracted, and a meta-analysis was performed using a random-effects model to calculate pooled odds ratios (OR) and relative risks (RR) with their respective 95% confidence intervals (CI). RESULTS: The review included data from 4 studies that met the inclusion criteria. The combined OR from two studies was 0.05 (95% CI: 0.00, 4.41), which does not suggest a statistically significant association between prenatal cocaine exposure and the incidence of CL/P due to the confidence interval crossing the null value. Additionally, the combined RR was 0.17 (95% CI: 0.04, 0.66), indicating a statistically significant decrease in the risk of CL/P associated with prenatal cocaine exposure. These results, with an OR that is not statistically significant and an RR suggesting decreased risk, should be interpreted with caution due to considerable heterogeneity and variability among the included studies' findings. Further research is needed to clarify these associations. CONCLUSION: The findings from this systematic review and meta-analysis suggest that maternal cocaine use during pregnancy is not a statistically significant independent risk factor for the development of CL/P in offspring. These results underscore the multifactorial nature of CL/P etiology and emphasize the importance of considering other genetic, environmental, and nutritional factors in understanding the condition's origins. While the study provides important insights, limitations such as data heterogeneity and potential confounders should be acknowledged. Future research should adopt rigorous study designs and explore a broader range of potential risk factors to comprehensively elucidate CL/P development.


Assuntos
Fenda Labial , Fissura Palatina , Transtornos Relacionados ao Uso de Cocaína , Cocaína , Lactente , Gravidez , Feminino , Humanos , Fenda Labial/etiologia , Fenda Labial/genética , Fissura Palatina/etiologia , Fissura Palatina/genética , Incidência , Transtornos Relacionados ao Uso de Cocaína/complicações , Transtornos Relacionados ao Uso de Cocaína/epidemiologia , Pais , Cocaína/efeitos adversos
3.
BMC Oral Health ; 24(1): 192, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38321523

RESUMO

BACKGROUND: Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management. METHODS: A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines. Qualitative analysis was carried out on the overall result, extraoral and intraoral manifestations, considering dental management as appropriate. RESULTS: Twenty-three studies were included, and a total of 124 cases of patients with MS were analyzed. The 82% of patients with MS were younger than 15 years of age. The most frequent extraoral manifestations were blinking and visual problems (78,22%), malformations of the upper and lower limbs (58,22%), bilateral facial paralysis (12,90%), lack of facial expression (12.09%), and unilateral facial paralysis (6,45%). On the other hand, the most frequent oral manifestations were tongue deformities (78,22%), micrognathia (37,90%), labial incompetence (36,29%), cleft palate (22,87%), gothic palate (16,12%), microstomia (15,32%), anterior open bite (15,32%), dental caries (8,87%), and periodontal disease (8,06%). The majority of MS patients were treated by pediatric dentistry (60,86%), using a surgical approach (56,52%), and orthodontic and orthopedic maxillary (43,47%) followed by restorative (39,13%), and periodontal treatments (21,73%). CONCLUSIONS: This systematic review demonstrates that patients with MS present a wide variety of oral and extraoral manifestations, for which dental treatments are planned and tailored to each patient in accordance with oral manifestations. These treatments encompass problem resolution and oral health maintenance, incorporating recent techniques in managing and treating patients with MS.


Assuntos
Fissura Palatina , Cárie Dentária , Paralisia Facial , Síndrome de Möbius , Criança , Humanos , Assistência Odontológica
5.
Eur J Med Res ; 29(1): 119, 2024 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-38347657

RESUMO

Cleft lip and palate is a congenital craniofacial anomaly that affects the lip and oral cavity. The management and orthodontic treatment of this anomaly is important but challenging. This article reports the successful treatment of a patient with bilateral cleft lip and palate, Class III malocclusion, bilateral crossbite, crowding and microdontic maxillary lateral incisors. One mandible incisor was extracted, and three miniscrew anchorages were utilized to distalize the maxillary left dental arch and retract the mandibular arch. After treatment, ideal occlusion and a better profile were established, and long-term stability was confirmed by a 4-year follow-up. This article represents a successful attempt of orthodontic camouflage treatment of severe dentofacial discrepancy, as an important part of the series treatment of cleft lip and palate, to provide some insight into the clinical field.


Assuntos
Fenda Labial , Fissura Palatina , Má Oclusão , Humanos , Fenda Labial/cirurgia , Incisivo , Fissura Palatina/cirurgia , Má Oclusão/terapia
6.
Child Care Health Dev ; 50(2): e13232, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38356401

RESUMO

In Tanzania, about 600 000 youth between 5 and 24 years old have a disability. Individuals with disabilities face numerous obstacles due to social stigma. The aim of this formative evaluation is to assess how caregivers of children with correctable disabilities (e.g., cleft lip/palate, club foot, and burn scar contractures) in Tanzania perceive their community's acceptance of their child before and after surgical treatment. Semi-structured interviews were conducted with 80 caregivers of children with disabilities treated at Kafika House in Arusha, Tanzania. The constant comparative method identified themes regarding the caregivers' feelings on their child's functional abilities and experiences of stigma in their community. Caregiver perceptions of stigma before and after surgical treatment were categorized and quantified as 'positive', 'neutral' and 'negative'. Thematic analysis of the 80 interviews resulted in five major themes: (1) stigma and acceptance (pre-treatment) and (2) post-treatment; (3) functional abilities (pre-treatment) and (4) post-treatment; and (5) emotional impact (pre- and post-treatment). These themes indicate caregivers and their children experience a range of emotional impacts before and after treatment, more severe stigma before treatment, and overall better social, emotional and functional status after treatment. Frequency analysis of caregiver experiences indicated that stigma experienced by children and their families decreased from 75% before surgical treatment to 2.5% after surgery. Surgical intervention and rehabilitation of physical disabilities mitigated experiences of social stigma for both children and their caregivers. Findings support the need for expanded treatment of correctable disabilities, larger investments in community-based rehabilitation programmes and further interventions to support stigmatized parents and their children.


Assuntos
Fenda Labial , Fissura Palatina , Pessoas com Deficiência , Criança , Adolescente , Humanos , Pré-Escolar , Adulto Jovem , Adulto , Cuidadores/psicologia , Tanzânia , Estigma Social
7.
J Appl Oral Sci ; 32: e20230353, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38359266

RESUMO

BACKGROUND: Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. OBJECTIVE: This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. METHODOLOGY: A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. RESULTS: WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. CONCLUSION: The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.


Assuntos
Fenda Labial , Fissura Palatina , Humanos , Fenda Labial/genética , Fissura Palatina/genética , Genótipo , Brasil , Metaloproteinase 2 da Matriz , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Proteína Wnt-5a/genética
8.
Cereb Cortex ; 34(2)2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38365268

RESUMO

Cleft lip/palate is a common orofacial malformation that often leads to speech/language difficulties as well as developmental delays in affected children, despite surgical repair. Our understanding of brain development in these children is limited. This study aimed to analyze prenatal brain development in fetuses with cleft lip/palate and controls. We examined in utero MRIs of 30 controls and 42 cleft lip/palate fetal cases and measured regional brain volumes. Cleft lip/palate was categorized into groups A (cleft lip or alveolus) and B (any combination of clefts involving the primary and secondary palates). Using a repeated-measures regression model with relative brain hemisphere volumes (%), and after adjusting for multiple comparisons, we did not identify significant differences in regional brain growth between group A and controls. Group B clefts had significantly slower weekly cerebellar growth compared with controls. We also observed divergent brain growth in transient brain structures (cortical plate, subplate, ganglionic eminence) within group B clefts, depending on severity (unilateral or bilateral) and defect location (hemisphere ipsilateral or contralateral to the defect). Further research is needed to explore the association between regional fetal brain growth and cleft lip/palate severity, with the potential to inform early neurodevelopmental biomarkers and personalized diagnostics.


Assuntos
Fenda Labial , Fissura Palatina , Feminino , Criança , Gravidez , Humanos , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Encéfalo/diagnóstico por imagem , Encéfalo/anormalidades , Feto
9.
BMC Public Health ; 24(1): 507, 2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38365612

RESUMO

BACKGROUND: A fundamental ethical issue in African genomics research is how socio-cultural factors impact perspectives, acceptance, and utility of genomic information, especially in stigmatizing conditions like orofacial clefts (OFCs). Previous research has shown that gatekeepers (e.g., religious, political, family or community leaders) wield considerable influence on the decision-making capabilities of their members, including health issues. Thus, their perspectives can inform the design of engagement strategies and increase exposure to the benefits of genomics testing/research. This is especially important for Africans underrepresented in genomic research. Our study aims to investigate the perspectives of gatekeepers concerning genomic risk information (GRI) in the presence of OFCs in a sub-Saharan African cohort. METHODS: Twenty-five focus group discussions (FGDs) consisting of 214 gatekeepers (religious, community, ethnic leaders, and traditional birth attendants) in Lagos, Nigeria, explored the opinions of participants on genomic risk information (GRI), OFC experience, and the possibility of involvement in collaborative decision-making in Lagos, Nigeria. Transcripts generated from audio recordings were coded and analyzed in NVivo using thematic analysis. RESULTS: Three main themes-knowledge, beliefs, and willingness to act-emerged from exploring the perspective of gatekeepers about GRI in this group. We observed mixed opinions regarding the acceptance of GRI. Many participants believed their role is to guide and support members when they receive results; this is based on the level of trust their members have in them. However, participants felt they would need to be trained by medical experts to do this. Also, religious and cultural beliefs were crucial to determining participants' understanding of OFCs and the acceptance and utilization of GRI. CONCLUSIONS: Incorporating cultural sensitivity into public engagement could help develop appropriate strategies to manage conflicting ideologies surrounding genomic information in African communities. This will allow for more widespread access to the advances in genomics research in underrepresented populations. We also recommend a synergistic relationship between community health specialists/scientists, and community leaders, including spiritual providers to better understand and utilize GRI.


Assuntos
Fenda Labial , Fissura Palatina , Humanos , Nigéria , Grupos Focais , Genômica , Pesquisa Qualitativa
10.
Int J Mol Sci ; 25(4)2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38396644

RESUMO

Germline variants in the FOXE1 transcription factor have been associated with thyroid ectopy, cleft palate (CP) and thyroid cancer (TC). Here, we aimed to clarify the role of FOXE1 in Portuguese families (F1 and F2) with members diagnosed with malignant struma ovarii (MSO), an ovarian teratoma with ectopic malignant thyroid tissue, papillary TC (PTC) and CP. Two rare germline heterozygous variants in the FOXE1 promoter were identified: F1) c.-522G>C, in the proband (MSO) and her mother (asymptomatic); F2) c.9C>T, in the proband (PTC), her sister and her mother (CP). Functional studies using rat normal thyroid (PCCL3) and human PTC (TPC-1) cells revealed that c.9C>T decreased FOXE1 promoter transcriptional activity in both cell models, while c.-522G>C led to opposing activities in the two models, when compared to the wild type. Immunohistochemistry and RT-qPCR analyses of patients' thyroid tumours revealed lower FOXE1 expression compared to adjacent normal and hyperplastic thyroid tissues. The patient with MSO also harboured a novel germline AXIN1 variant, presenting a loss of heterozygosity in its benign and malignant teratoma tissues and observable ß-catenin cytoplasmic accumulation. The sequencing of the F1 (MSO) and F2 (PTC) probands' tumours unveiled somatic BRAF and HRAS variants, respectively. Germline FOXE1 and AXIN1 variants might have a role in thyroid ectopy and cleft palate, which, together with MAPK pathway activation, may contribute to tumours' malignant transformation.


Assuntos
Fissura Palatina , Cisto Dermoide , Neoplasias Ovarianas , Estruma Ovariano , Neoplasias da Glândula Tireoide , Humanos , Ratos , Feminino , Animais , Estruma Ovariano/diagnóstico , Estruma Ovariano/metabolismo , Estruma Ovariano/patologia , Fissura Palatina/genética , Neoplasias da Glândula Tireoide/patologia , Neoplasias Ovarianas/metabolismo , Fatores de Transcrição Forkhead/genética
11.
Mol Genet Genomic Med ; 12(2): e2396, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38353053

RESUMO

BACKGROUND: Rauch-Steindl syndrome (RAUST) is a very rare genetic syndrome caused by a pathogenic variant in NSD2 on chromosome 4p16.3. Although NSD2 was previously thought to be the major gene in Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome of chromosome 4p16.3 deletion, RAUST has been found to present different facial and clinical features from WHS. In this study, we report the details of two newly diagnosed individuals with RAUST in order to better understand the molecular and clinical features of RAUST. METHODS: Whole-genome sequencing was performed on two individuals with psychomotor delay and growth failure. Detailed clinical evaluation of growth parameters, craniofacial features, electroencephalogram (EEG), magnetic resonance imaging of the brain, and developmental assessment were performed. RESULTS: Both individuals had de novo truncating variants in NSD2. One had a novel variant (c.2470C>T, p.Arg824*), and the other had a recurrent variant (c.4028del, p.Pro1343Glnfs*49). Both exhibited characteristic RAUST facial features, growth failure, and mild psychomotor delay. A novel finding of RAUST was seen in individual 2, a Chiari malformation type 1, and both showed delayed bone age. They lacked common WHS features such as congenital heart defects, cleft lip/palate, and seizures (EEG with abnormal findings). CONCLUSION: We present a novel variant and clinical presentations of RAUST, expand the molecular and clinical diversity of RAUST, and improve our understanding of this rare syndrome, which is distinct from WHS. Further researches are needed on more RAUST cases and on functional analysis of NSD2.


Assuntos
Fenda Labial , Fissura Palatina , Síndrome de Wolf-Hirschhorn , Humanos , Deleção Cromossômica , Fenda Labial/genética , Fissura Palatina/genética , Insuficiência de Crescimento/genética , Convulsões/genética , Síndrome de Wolf-Hirschhorn/genética , Síndrome de Wolf-Hirschhorn/patologia
12.
Eur J Orthod ; 46(2)2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38346109

RESUMO

BACKGROUND: Several methods have been proposed to assess outcome of bone-grafted alveolar clefts on cone beam computed tomography (CBCT), but so far these methods have not been compared and clinically validated. OBJECTIVES: To validate and compare methods for outcome assessment of bone-grafted clefts with CBCT and provide recommendations for follow-up. METHODS: In this observational follow-up study, two grading scales (Suomalainen; Liu) and the volumetric bone fill (BF) were used to assess the outcome of 23 autogenous bone-grafted unilateral alveolar clefts. The mean age at bone grafting was 9 years. The volumetric BF was assessed in five vertical sections. The bone-grafted cleft outcome was based on a binary coding (success or regraft) on a clinical multidisciplinary expert consensus meeting. Grading scales and volumetric assessment were compared in relation to the bone-grafted cleft outcome (success or regraft). Reliability for the different outcome variables was analyzed with intra-class correlation and by calculating kappa values. LIMITATIONS: The study had a limited sample size. Clinical CBCT acquisitions had a varying tube current and exposure time. RESULTS: Volumetric 3D measurements allowed for outcome assessment of bone-grafted alveolar clefts with high reliability and validity. The two grading scales showed highly reliable outcomes, yet the validity was high for the Suomalainen grading scale but low for the Liu grading scale. CONCLUSIONS: Volumetric 3D measurement as well as the Suomalainen grading can be recommended for outcome assessment of the bone-grafted cleft. Yet, one must always make a patient-specific assessment if there is a need to regraft.


Assuntos
Enxerto de Osso Alveolar , Fenda Labial , Fissura Palatina , Criança , Humanos , Transplante Ósseo , Enxerto de Osso Alveolar/métodos , Fenda Labial/diagnóstico por imagem , Fenda Labial/cirurgia , Seguimentos , Reprodutibilidade dos Testes , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Avaliação de Resultados em Cuidados de Saúde , Tomografia Computadorizada de Feixe Cônico/métodos
13.
Dent Med Probl ; 61(1): 29-34, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38376354

RESUMO

BACKGROUND: Children diagnosed with velocardiofacial syndrome (VCFS) suffer from various disabilities. Palatal abnormalities, as well as speech and language impairment, adversely affect a child's quality of life (QoL) and are some of the most distressing aspects for the parents of these children. OBJECTIVES: The present study aimed to explore the effect of palatoplasty on the health-related quality of life (HRQoL) and speech outcomes in children with VCFS. MATERIAL AND METHODS: The study recruited 20 patients (N = 20) with VCFS and connected speech, aged 3 years or older, having either undiagnosed submucous cleft palate (SMCP) or velopharyngeal insufficiency (VPI), and requiring primary cleft palate surgery or revision surgery. Speech assessment was conducted prior to palatoplasty and 6 months after the surgery. Intelligibility and hypernasality were evaluated using the Cleft Audit Protocol for Speech - Augmented (CAPS-A). The parent proxy-report form of the Pediatric Quality of Life Inventory (PedsQL™) was used to evaluate and compare the HRQoL of the VCFS patients before and after palatoplasty. RESULTS: Significant improvement in the HRQoL scores was achieved after the surgery across all domains (physical, emotional, social, and school functioning), especially in the emotional and social dimensions (p < 0.000). The post-operative speech assessment based on CAPS-A demonstrated improvement in speech intelligibility and hypernasality in the majority of patients. CONCLUSIONS: Given that children with VCFS face various medical and social problems, suitable palatal interventions are beneficial, improving both the speech ability and QoL of these children.


Assuntos
Fissura Palatina , Síndrome de DiGeorge , Criança , Humanos , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/cirurgia , Qualidade de Vida , Fala
14.
Nutrients ; 16(4)2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-38398855

RESUMO

Congenital malformations are functional and structural alterations in embryonic or foetal development resulting from a variety of factors including maternal health status. This study aimed to investigate the association between maternal birth weight (MBW) and the prevalence of congenital malformations in offspring using data from a nationwide birth cohort study in Japan including 103,060 pregnancies. A binary logistic regression model with adjustment for various covariates revealed that an MBW of <2500 g (low MBW) was associated with an increased risk of congenital heart disease (adjusted odds ratio: 1.388, [95% confidence interval: 1.075-1.792]), angioma (1.491 [1.079-2.059]), and inguinal hernia (1.746, [1.189-2.565]), while those with an MBW of ≥4000 g (high MBW) were associated with congenital anomalies of the urinary tract (2.194, [1.261-3.819]) and arrhythmia (1.775, [1.157-2.725]) compared with those with an MBW of 3000-3499 g. Low MBW was associated with cleft lip and/or palate (1.473, [1.052-2.064]), congenital heart disease (1.615, [1.119-2.332]), genital organs (1.648, [1.130-2.405]), hypospadias (1.804, [1.130-2.881]), and inguinal hernia (1.484, [1.189-1.851]) in male infants and CAKUT (1.619, [1.154-2.273]) in female infants, whereas high MBW was associated with congenital heart disease (1.745, [1.058-2.877]) and CAKUT (2.470, [1.350-4.517]) in male infants. The present study is the first to demonstrate a link between MBW and congenital malformations in Japanese children. While these results must be interpreted with caution, MBW should be considered a major predictor of congenital malformation risk.


Assuntos
Fenda Labial , Fissura Palatina , Cardiopatias Congênitas , Hérnia Inguinal , Anormalidades Urogenitais , Refluxo Vesicoureteral , Gravidez , Lactente , Criança , Humanos , Masculino , Feminino , Peso ao Nascer , Fenda Labial/epidemiologia , Japão/epidemiologia , Estudos de Coortes , Prevalência , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia
15.
Sci Rep ; 14(1): 1047, 2024 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-38200098

RESUMO

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital facial malformation with a complex, incompletely understood origin. Long noncoding RNAs (lncRNAs) have emerged as pivotal regulators of gene expression, potentially shedding light on NSCL/P's etiology. This study aimed to identify critical lncRNAs and construct regulatory networks to unveil NSCL/P's underlying molecular mechanisms. Integrating gene expression profiles from the Gene Expression Omnibus (GEO) database, we pinpointed 30 dysregulated NSCL/P-associated lncRNAs. Subsequent analyses enabled the creation of competing endogenous RNA (ceRNA) networks, lncRNA-RNA binding protein (RBP) interaction networks, and lncRNA cis and trans regulation networks. RT-qPCR was used to examine the regulatory networks of lncRNA in vivo and in vitro. Furthermore, protein levels of lncRNA target genes were validated in human NSCL/P tissue samples and murine palatal shelves. Consequently, two lncRNAs and three mRNAs: FENDRR (log2FC = - 0.671, P = 0.040), TPT1-AS1 (log2FC = 0.854, P = 0.003), EIF3H (log2FC = - 1.081, P = 0.041), RBBP6 (log2FC = 0.914, P = 0.037), and SRSF1 (log2FC = 0.763, P = 0.026) emerged as potential contributors to NSCL/P pathogenesis. Functional enrichment analyses illuminated the biological functions and pathways associated with these lncRNA-related networks in NSCL/P. In summary, this study comprehensively delineates the dysregulated transcriptional landscape, identifies associated lncRNAs, and reveals pivotal sub-networks relevant to NSCL/P development, aiding our understanding of its molecular progression and setting the stage for further exploration of lncRNA and mRNA regulation in NSCL/P.


Assuntos
Fenda Labial , Fissura Palatina , RNA Longo não Codificante , Humanos , Animais , Camundongos , Fissura Palatina/genética , Fenda Labial/genética , RNA Longo não Codificante/genética , Bases de Dados Factuais , Hidrolases , RNA Mensageiro/genética , Proteínas de Ligação a DNA , Ubiquitina-Proteína Ligases , Fatores de Processamento de Serina-Arginina
16.
BMC Oral Health ; 24(1): 36, 2024 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-38185687

RESUMO

BACKGROUNDS: Cleft lip with or without cleft palate (CL/P) is the most common congenital craniofacial anomaly, including non-syndromic cleft lip with or without cleft palate and cleft palate only. Failure in the fusion of median and lateral nasal processes, the maxillary prominence, and soft tissues around the oral cavity can cause CL/P. Previously, the prevalence has been estimated to be 1 among every 1000 births in 2014 among American neonates and no other reports have been available since. Thus, this study aimed to calculate the prevalence and trend of isolated CL/P among American live births from 2016 to 2021 with its associated risk factors. METHODS AND MATERIALS: In this cross-sectional population-based retrospective study, we used live birth data provided by the National Center for Health Statistics (NCHS) from the Center for Disease Control and Prevention (CDC). We calculated the prevalence per 10,000 live births of isolated (non-syndromic) CL/P from 2016 to 2021. To examine risk factors for developing isolated CL/P, we used logistic regression modelling. RESULTS: The total prevalence per 10,000 births from 2016 to 2021 was 4.88 (4.79-4.97), for both sexes, and 5.96 (5.82-6.10) for males, and 3.75 (3.64-3.87) for females. The prevalence did not show any consistent linear decreasing or increasing pattern. We found significant association between increased odds of developing isolated CL/P among cases with 20 to 24 year-old mothers (OR = 1.07, 1.01-1.13, p = 0.013), mothers who smoked 11 to 20 cigarettes per day (OR = 1.46, 1.33-1.60, p <  0.001), mothers with extreme obesity (OR = 1.32, 1.21-1.43, p <  0.001), mothers with grade II obesity (OR = 1.32, 1.23-1.42, p <  0.001), mothers with pre-pregnancy hypertension (OR = 1.17, 1.04-1.31, p = 0.009), mothers with pre-pregnancy diabetes mellitus (OR = 1.96, 1.71-2.25, p <  0.001), and mothers who used assisted reproductive technology (OR = 1.40, 1.18-1.66, p <  0.001). CONCLUSIONS: Our findings suggest a minuscule increase, albeit insignificant, in the trend of CL/P prevalence from 2016 to 2021. Developing CL/P had greater odds among mothers with pre-pregnancy diabetes, smoking, obesity, and pre-pregnancy hypertension mothers along with mothers who used assisted reproductive technology. Isolated CL/P had the highest prevalence in non-Hispanic Whites, American Indian or Alaskan Native and Native Hawaiian and Other Pacific Islanders.


Assuntos
Fenda Labial , Fissura Palatina , Hipertensão , Feminino , Masculino , Recém-Nascido , Gravidez , Humanos , Adulto Jovem , Adulto , Fissura Palatina/epidemiologia , Fenda Labial/epidemiologia , Nascido Vivo/epidemiologia , Estudos Transversais , Prevalência , Estudos Retrospectivos , Fatores de Risco , Obesidade
17.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 59(1): 110-115, 2024 Jan 09.
Artigo em Chinês | MEDLINE | ID: mdl-38172071

RESUMO

Cleft palate is one of the most common maxillofacial birth defects, which can occur alone or accompany with many known deformities. Palatal selves need to complete the process of vertical growth, elevation, adhesion and fusion in a specific time window of embryo development. Any abnormality in this process will lead to cleft palate. Although previous studies have identified many molecular networks that regulate the growth, location and fusion of palatal selves, there are still many unknown mechanisms for palatal development. The pathogenesis of cleft palate has not been clarified so far. In recent years, the molecular research on palate development has been deepened continuously. Here we summarize major recent advances and integrate the genes and molecular pathways with the cellular and morphogenetic processes of palatal shelf growth, patterning, elevation, adhesion, and fusion, in order to comprehensively understand the genotype-phenotype functional relationship and provide assistance in formulating effective prevention strategies for cleft palate disease.


Assuntos
Fissura Palatina , Humanos , Fissura Palatina/genética , Palato , Morfogênese/genética
18.
BMC Oral Health ; 24(1): 103, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38233799

RESUMO

Gene sequencing (GS) has numerous applications in combatting oral-cavity related disorders, including identifying genetic risk factors for diseases, developing targeted therapies, and improving diagnostic methods. It can help identify specific genetic mutations or variations that increase the risk of developing oral-cavity related disorders, such as oral cancer, periodontal disease, and cleft lip and palate. By the means of the following investigation, our primary objective was to assess the impact of GS technique in diagnosing and potentially treating diseases of the oral cavity by the means of a systematic review and meta-analysis. We commenced by defining the terms "gene sequencing," "oral cavity," and "disorders" as the important elements in our investigation's subject. Next, relevant databases like PubMed, Scopus, Embase, Web of Science, and Google Scholar were searched using keywords and synonyms for each concept, such as "genomic sequencing," "DNA sequencing," "oral health," "oral diseases," "dental caries," "periodontal disease," "oral cancer," and "salivary gland disorders." We combined several search terms, such as "gene sequencing AND oral disorders AND periodontal disease" or "oral cancer OR genomic sequencing," to further hone your search results using Boolean operators like "AND" and "OR." The oral cavity analysis obtained by CS in the selected articles revealed that most of the disorders were, in fact, a direct causal event influenced by the oral microbiome. Moreover, each sampled oral cavity evidenced a different microbial community, which predicted the precipitation of benign as well as malignant conditions, though not on a definitive basis. In the last ten years, genomic sequencing had advanced remarkably as majority of our selected studies observed, making it possible to diagnose and treat a variety of oral and maxillofacial disorders, including cancer. It was also used to ascertain a person's genetic make-up as well as to spot numerous genetic abnormalities that can predispose individuals to diseases. Understanding the different sequencing techniques and the resulting genetic anomalies may help with their clinical application and lead to an improvement in illness diagnosis and prognosis as a whole in the field of dentistry.


Assuntos
Fenda Labial , Fissura Palatina , Cárie Dentária , Doenças da Boca , Neoplasias Bucais , Doenças Periodontais , Humanos , Doenças da Boca/genética , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/genética , Doenças Periodontais/genética
19.
Afr J Paediatr Surg ; 21(1): 18-27, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38259015

RESUMO

BACKGROUND: Cleft lip and palate, which affects 0.5-1.6 out of every 1000 live births, is the most prevalent congenital defect of the head and neck. Several approaches, including quadrangular flaps, triangular flaps and rotation-advancement procedures, White Roll Vermilion Turn Down Flap (WRV flap) from the lateral lip element were employed by Mishra to modify Millard's technique to create the vermilion and white roll on the medial lip segment. This study aimed to use the anthropometric measurements taken pre- and post-operation to evaluate quantitative assessment of modified Millard technique compared with WRV flap technique in unilateral cleft lip (UCL) repair. MATERIALS AND METHODS: Prospective, randomised controlled study recruited infants scheduled for UCL repair. Infants aged 3-6 months, either complete or incomplete deformity. A total of 42 patients were randomized in 1:1 ratio to undergo either WRV flap technique (group A) or modified Millard technique (group B) and another control included 21 age-matched healthy children. We compared WRV flap procedure to Modified Millard's procedure in terms of both qualitative (another surgeon's opinion) and quantitative (anthropometric) evaluation. RESULTS: Vertical lip length and philtral lip height significantly longer in Millard group (B) than WRV flap group (A) in immediate postoperative assessment and nasal width was significantly wider in WRV flap group (A) than Millard group (B) in 3-month post-operative assessment. The lip shape, the vermilion shape was better in Millard technique than WRV flap technique; however, this was statistically insignificant. However, no major difference in the overall results between the WRV flap and Millard rotation-advancement repairs. CONCLUSION: Anthropometric measurement of surgical outcome evaluates the surgical technique used and helps to compare between cleft and non-cleft side showing the degree of deformity and we used subjective assessment to analyse facial aesthetics. Overall results demonstrate no significant differences between modified Millard technique and WRV flap technique.


Assuntos
Fenda Labial , Fissura Palatina , Criança , Lactente , Humanos , Fenda Labial/cirurgia , Estudos Prospectivos , Período Pós-Operatório , Retalhos Cirúrgicos
20.
N Z Med J ; 137(1588): 37-46, 2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38261773

RESUMO

AIM: This study explored speech outcomes for five-year-olds born with cleft palate residing in the Auckland Regional Cleft Palate Service catchment, with a focus on ethnicity and geographical influences on service accessibility and speech outcomes. METHODS: A retrospective audit of children born with cleft palate between 2013-2016 was conducted (n=89), including secondary surgeries, ethnicity, distances travelled, services offered and attended. Speech outcomes at five years were compared to international benchmarking. RESULTS: Seventy-nine children were included; 10 were lost to follow-up before their 5 years review. At 5 years, 30% children presented with moderate to severe velopharyngeal incompetence; 30% had residual cleft speech characteristics which warranted speech therapy intervention. There was no significant difference in speech outcomes for Maori vs non-Maori. Attendance at clinic was not significantly associated with distance from centre. However, Maori had significantly lower attendance at clinic appointments and were significantly more likely to be referred to community services. CONCLUSION: Auckland Regional speech outcomes are better than the national average, yet still do not compare favourably with international benchmarking. While speech outcomes were not associated with ethnicity, attendance at specialist clinic appointments was lower in Maori. Community services were offered, but attendance at, and satisfaction with, these appointments is unknown. Further work is needed to reach all children regionally in a timely manner to ensure Aotearoa New Zealand speech outcomes meet international standards.


Assuntos
Fissura Palatina , Acesso aos Serviços de Saúde , Fonoterapia , Criança , Humanos , Fissura Palatina/terapia , Povo Maori , Nova Zelândia , Estudos Retrospectivos , Fala
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