Assessment of non-syndromic orofacial cleft severity and associated environmental factors in Saudi Arabia: A cross-sectional study.

Objective: To evaluate the relationship between different environmental risk factors and the severity of cleft lip with/without palate (CL ± P) and cleft palate (CP) in Saudi Arabia. Methods: This was a cross-sectional national study, of government hospitals in 10 cities distributed across major regions of Saudi Arabia, from June 2020 to June 2021. All newborns with CL ± P or CP were clinically examined and evaluated for cleft phenotype severity using the LAHSHAL classification system. Various environmental factors were evaluated by interviewing parents using a validated questionnaire. The severity of CL ± P and CP was evaluated in relation to environmental factors. Results: We recruited 174 patients with non-syndromic orofacial cleft (NSOFC); 122 (70.1 %) had CL ± P and 52 (29.9 %) had CP. After adjusting the odds ratios by ordinal regression for CL ± P and logistic regression analysis for CP, environmental factors that significantly increased the severity of CL ± P were family history of NSOFC, maternal illnesses, and maternal medication use (P = 0.02, adjusted odds ratio [AOR]:2.70; P = 0.002, AOR:3.70; and P = 0.03, AOR:2.14, respectively). Folic acid supplementation in the first trimester significantly reduced the severity of CL ± P and CP (P = 0.001, AOR:0.18 and P = 0.001, AOR:0.012, respectively). Conclusion: The severity of CL ± P was affected by some maternal exposures during the 3-month pre-gestation period. Therefore, our results suggest the possibility of controlling the severity of NSOFC.

Serum BMP-2 and osteocalcin levels, and CT Hounsfield unit post hyperbaric oxygen therapy in patients with cleft lip and palate post alveolar bone graft: A case study.

Background: This study investigated the levels of bone morphogenetic protein 2 (BMP-2), osteocalcin, and 3D CT Hounsfield units following hyperbaric oxygen therapy (HBOT) in patients with cleft lip and palate (CLP) undergoing alveolar bone grafts to provide a pilot evaluation of the role of HBOT in osteogenesis. Methods: This prospective, quasi-experimental, pre-post-intervention study evaluated seven patients with CLP receiving HBOT after single-stage reconstructions with alveolar bone grafts. The outcomes included the serum levels of BMP-2 and osteocalcin and the 3D CT Hounsfield units obtained before and after the surgery, and after the five HBOT sessions, to a total of 12 measurements. The data were analyzed with linear mixed-effects models using the intervention stage (pre-surgery, pre-HBOT, first to fifth HBOT sessions) as covariates and adjusting for several baseline factors. Results: A significant difference was found in outcome measures across time (ANOVA p < 0.001 for BMP-2 and osteocalcin, p = 0.01 for Hounsfield units), with mean values appearing to steadily increase once HBOT began. Regression analyses indicated that the effect of HBOT was evident in serum osteocalcin after the 1st HBOT session (adjusted b = 1.32; 95% CI 0.39, 2.25) and in serum BMP-2 after the third session (adjusted b = 6.61; 95% CI 1.93, 11.28). After the fifth session, the HBOT effect was fairly pronounced on the two outcomes: the adjusted increase compared to the baseline was 28.06 ng/mL for BMP-2 and 6.27 ng/mL for osteocalcin. Our mixed-effect models also showed a post-HBOT increase in Hounsfield units. Conclusion: We found an increase of BMP-2, osteocalcin, and Hounsfield units following the HBOT intervention. These may suggest an effect of HBOT on osteogenesis.

Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies.

Since telepractice regulation does not yet exist in Japan, we assessed telepractice efficacy and the level of satisfaction with telepractice versus that with face-to-face practice (FTFP) in speech therapy to establish effective telepractice in Japan. Changes in the number of therapy sessions and therapy levels were compared between telepractice and FTFP sessions conducted during the study period. Additionally, the patients' parents completed a questionnaire survey regarding telepractice. The mean number of sessions was not significantly different between the two types of therapy; the therapy levels, according to stepwise speech therapy, either increased or remained unchanged. The survey showed satisfaction with telepractice among all parents. Telepractice for cleft palate speech was delivered successfully with complete parental satisfaction.

Maternal consumption of caffeine and second-hand tobacco smoke as risk factors for the development of oral clefts.

OBJECTIVE: The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. METHODS: This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. RESULTS: Folic acid supplementation was observed in 116 (87.8%) of the case group (p < 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p = 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p = 0.13), while 247 (88.8%) reported consumption in the control group. CONCLUSIONS: The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.

Inhibition of Cxcr4 Disrupts Mouse Embryonic Palatal Mesenchymal Cell Migration and Induces Cleft Palate Occurrence.

Many processes take place during embryogenesis, and the development of the palate mainly involves proliferation, migration, osteogenesis, and epithelial-mesenchymal transition. Abnormalities in any of these processes can be the cause of cleft palate (CP). There have been few reports on whether C-X-C motif chemokine receptor 4 (CXCR4), which is involved in embryonic development, participates in these processes. In our study, the knockdown of Cxcr4 inhibited the migration of mouse embryonic palatal mesenchymal (MEPM) cells similarly to the use of its inhibitor plerixafor, and the inhibition of cell migration in the Cxcr4 knockdown group was partially reversed by supplementation with C-X-C motif chemokine ligand 12 (CXCL12). In combination with low-dose retinoic acid (RA), plerixafor increased the incidence of cleft palates in mice by decreasing the expression of Cxcr4 and its downstream migration-regulating gene Rac family small GTPase 1 (RAC1) mediating actin cytoskeleton to affect lamellipodia formation and focal complex assembly and ras homolog family member A (RHOA) regulating the actin cytoskeleton to affect stress fiber formation and focal complex maturation into focal adhesions. Our results indicate that the disruption of cell migration and impaired normal palatal development by inhibition of Cxcr4 expression might be mediated through Rac1 with RhoA. The combination of retinoic acid and plerixafor might increase the incidence of cleft palate, which also provided a rationale to guide the use of the drug during conception.

The relationship between maternal periconceptional micronutrient supplementation and non-syndromic cleft lip/palate in offspring.

BACKGROUND: This study aimed to explore the relationship between maternal periconceptional supplementation with folic acid only (FAO) or with multiple micronutrients containing folic acid (MMFA) and non-syndromic cleft lip/palate in offspring. METHOD: The data came from a prenatal health care system and a birth defects surveillance system in Beijing, China, from 2013 to 2018. Information on maternal FAO/MMFA supplementation was collected by questionnaire in the first trimester, and data on cleft lip/palate were collected at delivery or termination of pregnancy. Inverse probability weighting (IPW) by the propensity score to adjust for the confounders and Poisson regression model was used to estimate risk ratios (RRs) and their 95% confidence intervals (CIs). RESULTS: A total of 63,969 participants were included in the study. Compared to the no-supplementation group, the adjusted RR for the supplementation group was 0.51 (95% CI: 0.40, 0.64). And the adjusted RRs for FAO and MMFA compared to the no-supplementation group were 0.56 (95% CI: 0.40, 0.76) and 0.48 (95% CI: 0.35, 0.65), respectively. Compared to supplement FAO and MMFA with less than 8 days out of 10 days, the adjusted RRs for FAO and MMFA with 8 or more days out of 10 days were 1.17 (95% CI: 0.78, 1.75), and 2.05 (95% CI: 1.37, 3.31), respectively. CONCLUSION: Maternal supplementation with micronutrients, either FAO or MMFA, during the periconceptional period can reduce the risk for non-syndromic cleft lip/palate in offspring. However, women should be more cautious with MMFA supplementation.

American Indian and Alaska Native Accessibility to Comprehensive Cleft Lip and Palate Treatment.

American Indians and Alaska Natives (AI/AN) have the highest incidence of cleft lip and palate (orofacial clefts [OFCs]) when compared to other ethnic groups. We aim to determine the AI/AN populations' proximity and accessibility to American Cleft Palate-Craniofacial Association accredited centers (ACPA centers) for treatment of OFCs. Our hypothesis is an unacceptable proportion of the AI/AN population lacks reasonable accessibility to ACPA centers and comprehensive craniofacial care.A cross-sectional study of ACPA centers and AI/AN populations were analyzed for possible disparities.ACPA centers were mapped using Geographic Information Systems (GIS) and compared with 2018 census population data and 2017 Tribal Census Tract data to visually display possible disparities. Total annual potential pediatric cleft care need for selected high-density AI/AN populated lands were estimated.GIS mapping demonstrates geographical isolation of AI/AN populations from ACPA centers. Two states with high AI/AN populated lands (ND, WY) have no ACPA centers. 47.1% of ACPA centers in high AI/AN populated lands have no craniofacial trained surgeons versus 78.9% craniofacial staffed ACPA centers nationally. The potential unmet cleft and craniofacial care need in selected high-density AI/AN populated lands is 1042 children.AI/AN populations are likely underserved by ACPA centers and by craniofacial fellowship-trained staffed centers. Not addressing OFCs with comprehensive care can lead to worsened outcomes and further marginalization of these children. With future studies, we will be capable of making data-driven, informed decisions to more effectively ensure AI/AN access to comprehensive cleft and craniofacial care.

Maternal consumption of caffeine and second-hand tobacco smoke as risk factors for the development of oral clefts

Abstract Objective The aim of this case-control study was to investigate environmental factors, such as caffeine, folic acid, nutritional iron supplementation, multivitamin complexes, alcohol, and tobacco (second-hand smoking), which have been described as risk factors for the development of oral clefts. Methods This case-control study employed convenience sampling and included 409 mothers: 132 with children with oral clefts (cases) and 277 with children without oral clefts (controls). The age range of the children in both groups was 0 to 2 years. A questionnaire was administered to each mother to inquire about their habits and food consumption during the first trimester of pregnancy. Results Folic acid supplementation was observed in 116 (87.8%) of the case group (p< 0.001) and 271 (97.8%) of the control group. Regarding the use of ferrous sulfate, 114 (86.3%) of the case group and 271 (97.8%) of the control group reported using it. In the case group, 84 (63.6%) mothers reported being exposed to second-hand smoke, and 5 (3.7%) reported alcohol consumption (p= 0.797). In terms of caffeine consumption, 127 mothers (95.4%) in the case group consumed it (p= 0.13), while 247 (88.8%) reported consumption in the control group. Conclusions The results suggest a direct relationship between secondhand smoke, alcohol consumption, and the lack of maternal supplementation with oral clefts.

Access and use of the oral health service in a reference center in oral cleft in the state of Bahia / Acesso e utilização de serviço de saúde bucal em centro de referência em fissura oral no estado da Bahia

ABSTRACT This study aimed to determine the access and utilization of dental services in a reference center for orofacial defects in the state of Bahia, Brazil. In an interview, a questionnaire was done about socio-demographic information, cleft type, specialized treatments, scheduling time and return of the consultation of 101 patients with nonsyndromic cleft lip with or without cleft palate and 101 healthy controls. In both groups the age was between 5 to 12 years old. It was observed that individuals with cleft had faster access to the dental service in relation to the control group and shorter scheduling time between the first consultation and their return. Different needs in the use of dental services were observed in the study groups with differences in relation to the specialties (p=0.000). The nonsyndromic cleft lip with or without cleft palate individuals showed socialization difficulties in the age group between 9 and 12 years and did not present difficulties in accessing primary dental care in specialized service. In conclusion, in this study NSCL±P individuals did not present difficulties in accessing the specialized dental center. To complement the comprehensive care, it is suggested the performance of educational activities of oral health, not yet fully implemented in this multidisciplinary treatment center.

RESUMO Esta pesquisa teve como objetivo determinar o acesso e a utilização de serviços odontológicos em centro de referência para pacientes com defeitos orofaciais no estado da Bahia, Brasil. Em entrevista um questionário foi preenchido sobre informações sociodemográficas, tipo de fissura, tipos de tratamentos especializados, tempo para agendamento e de retorno da consulta de 101 pacientes com fissura labial com ou sem fissura palatina não sindrômica e 101 indivíduos controles sem a malformação. Em ambos os grupos a faixa etária foi de 5 a 12 anos. Observou-se que indivíduos fissurados tiveram acesso mais rápido ao serviço odontológico em relação ao grupo controle e menor tempo de agendamento entre a primeira consulta e o retorno. Distintas necessidades na utilização de serviços odontológicos foram observadas nos grupos de estudo com diferenças em relação às especialidades (p=0,000). Indivíduos com fissura labial com ou sem fissura palatina não sindrômica mostraram dificuldades de socialização no grupo de faixa etária entre 9 e 12 anos e não tiveram dificuldades no acesso ao serviço odontológico especializado. Através desse estudo concluiu-se que os indivíduos fissurados não apresentaram dificuldades no acesso ao serviço especializado. Sugere-se a implementação de atividades educacionais básicas de saúde oral nesse centro de tratamento multidisciplinar.

Preemptive analgesic effectiveness of single dose intravenous ibuprofen in infants undergoing cleft palate repair: a randomized controlled trial.

BACKGROUND: Correction surgery for cleft palate is recommended between 9 and 18 months of age. Patients suffer from acute pain after palatoplasty. Clinicians are hesitant to use opioids for analgesia concerning the potential high risk of respiratory adverse events. Intravenous ibuprofen perhaps be a suitable adjuvant to pain relief. We try to assess whether preoperative administration of intravenous ibuprofen can decrease opioid requirements following cleft palate repair in infants. METHODS: This single center prospective randomized clinical trial was performed from February to April 2021 at Department of Anesthesiology in Shanghai Children's Medical Center. Forty patients ASA I-II, aged 9-24 months with isolated cleft palate and undergoing palatoplasty were randomized in a 1:1 ratio to receive either a single dose of 10 mg/kg ibuprofen intravenously or normal saline at induction. Children and infants postoperative pain scale (CHIPPS) was used for pain assessment. Those patients CHIPPS pain score equal or higher than 4 received analgesic rescue with titrating intravenous fentanyl 0.5 µg/kg and repeated in 10 min if required. The primary outcome was the amount of postoperative fentanyl used for rescue analgesia in postanesthesia care unit (PACU). RESULTS: Patients (n = 20 in each group) in IV-Ibuprofen group required less postoperative fentanyl than those in placebo group (p<0.001). There was no significant difference between two groups in first rescue analgesia time (p = 0.079) and surgical blood loss (p = 0.194). No incidence of obvious adverse events had been found within the first 24 h after surgery in both groups. CONCLUSIONS: Preemptive intravenous administration ibuprofen 10 mg/kg at induction had a significant opioid sparing effect in early postoperative period without obvious adverse effects in infants undergoing palatoplasty. TRIAL REGISTRATION: CHICTR, CTR2100043718, 27/02/2021 http://www.chictr.org.cn/showproj.aspx?proj=122187.

Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between etiologic groups. A secondary endpoint was to determine the relationship of etiologic group, cleft type, and mortality. Retrospective chart review of patients with RS at two high-volume craniofacial centers. 295 patients with RS identified. CP was identified in 97% with iRS, 95% with SS, and 70% of those with SyndRS (p < .0001). U-shaped CP was seen in 86% of iRS, 82% with SS, but only 27% with SyndRS (p < .0001). At one institution, 12 children (6%) with RS died, all from the SyndRS group (p < .0001). All died due to medical comorbidities related to their syndrome. Only 25% of children who died had a U-shaped CP. The most common palatal morphology among those who died was an intact palate. U-shaped CP was most strongly associated with iRS and SS, and with a lower risk of mortality. RS with submucous CP, cleft lip and palate or intact palate was strongly suggestive of an underlying genetic syndrome and higher risk of mortality.

Frequency of anemia and micronutrient deficiency among children with cleft lip and palate: a single-center cross-sectional study from Uttarakhand, India.

BACKGROUND: Children with cleft lip and/or palate can be undernourished due to feeding difficulties after birth. A vicious cycle ensues where malnutrition and low body weight precludes the child from having the corrective surgery, in the absence of which the child fails to gain weight. This study aimed to identify the proportion of malnutrition, including the deficiency of major micronutrients, namely iron, folate and vitamin B12, in children with cleft lip and/or palate and thus help in finding out what nutritional interventions can improve the scenario for these children. METHODS: All children less than 5 years with cleft lip and/or cleft palate attending our institute were included. On their first visit, following were recorded: demographic data, assessment of malnutrition, investigations: complete blood count and peripheral blood film examination; serum albumin, ferritin, iron, folate, and vitamin B12 levels. RESULTS: Eighty-one children with cleft lip and/or palate were included. Mean age was 25.37± 21.49 months (range, 3-60 months). In 53% of children suffered from moderate to severe wasting, according to World Health Organization (WHO) classification. Iron deficiency state was found in 91.6% of children. In 35.80% of children had vitamin B12 deficiency and 23.45% had folate deficiency. No correlation was found between iron deficiency and the type of deformity. CONCLUSION: Iron deficiency state is almost universally present in children with cleft lip and palate. Thus, iron and folic acid supplementation should be given at first contact to improve iron reserve and hematological parameters for optimum and safe surgery.

Population Attributable Fractions of Modifiable Risk Factors for Nonsyndromic Orofacial Clefts: A Prospective Cohort Study From the Japan Environment and Children's Study.

BACKGROUND: Population impact of modifiable risk factors on orofacial clefts is still unknown. This study aimed to estimate population attributable fractions (PAFs) of modifiable risk factors for nonsyndromic cleft lip with or without cleft palate (CL±P) and cleft palate only (CP) in Japan. METHODS: We conducted a prospective cohort study using data from the Japan Environment and Children's Study, which recruited pregnant women from 2011 to 2014. We estimated the PAFs of maternal alcohol consumption, psychological distress, maternal active and passive smoking, abnormal body mass index (BMI) (<18.5 and ≥25 kg/m2), and non-use of a folic acid supplement during pregnancy for nonsyndromic CL±P and CP in babies. RESULTS: A total of 94,174 pairs of pregnant women and their single babies were included. Among them, there were 146 nonsyndromic CL±P cases and 41 nonsyndromic CP cases. The combined adjusted PAF for CL±P of the modifiable risk factors excluding maternal alcohol consumption was 34.3%. Only maternal alcohol consumption was not associated with CL±P risk. The adjusted PAFs for CL±P of psychological distress, maternal active and passive smoking, abnormal BMI, and non-use of a folic acid supplement were 1.4% (95% confidence interval [CI], -10.7 to 15.1%), 9.9% (95% CI, -7.0 to 26.9%), 10.8% (95% CI, -9.9 to 30.3%), 2.4% (95% CI, -7.5 to 14.0%), and 15.1% (95% CI, -17.8 to 41.0%), respectively. We could not obtain PAFs for CP due to the small sample size. CONCLUSIONS: We reported the population impact of the modifiable risk factors on CL±P, but not CP. This study might be useful in planning the primary prevention of CL±P.

Environmental Risk Factors for Nonsyndromic Cleft Lip and/or Cleft Palate in Xinjiang Province, China: A Multiethnic Study.

OBJECTIVE: To determine the risk factors of the occurrence of nonsyndromic cleft lip and/or cleft palate (NSCL/P) in Xinjiang Province, China. DESIGN: The study included 359 patients of NSCL/P and 310 controls. Information about sociodemographic characteristics, lifestyle behaviors, negative life events, possible environmental hazards exposures, and use of supplementations were collected from cases and controls. Both t test and χ2 tests were used for group comparisons. Multivariable logistic regression was used to estimate the independent associations between environmental risk factors and the presence of NSCL/P. The receiver operating characteristic curve was used to establish the predictive variables for the occurrence of NSCL/P. RESULTS: The results showed that maternal pesticide exposure (odds ratio [OR] = 11.40, 95%CI: 5.40-24.10), antibiotic drugs use (OR = 1.32, 95%CI: 1.14-1.53), paternal smoking (OR = 3.30, 95%CI: 1.87-5.83), threatened abortion (OR = 12.2, 95%CI: 3.29-45.25) were associated with increased risk of NSCL/P in offspring. In contrast, maternal moderate (OR = 0.43, 95%CI: 0.20-0.92) and middle physical workload (OR = 0.48, 95%CI: 0.0.23-0.97), vitamin-B complex supplementations (OR = 0.11, 95%CI: 0.03-0.41), calcium and iron (OR = 0.27, 95%CI: 0.08-0.90) supplementations were associated with reduced risk of NSCL/P in offspring. These variables together explain nearly 60% of the variation of occurrence of NSCL/P. CONCLUSION: These findings from our study may help to develop primary prevention strategies for NSCL/P in Xinjiang.

Religiosidade, espiritualidade e autoestima em adolescentes com fissura de lábio e palato: estudo correlacional / Religiosidad, espiritualidad y autoestima en adolescentes con labio y paladar hendido: un estudio correlacional / Religiosity, spirituality, and self-esteem in adolescents with cleft lip and palate: a correlational study

RESUMO Objetivo Avaliar a correlação entre religiosidade, espiritualidade e autoestima em adolescentes com fissura de lábio e palato, uni e bilateral. Método Estudo correlacional e transversal, desenvolvido em um hospital público e terciário brasileiro, entre julho de 2018 e fevereiro de 2019. A amostra constou de 100 adolescentes divididos em dois grupos, G1 (fissura unilateral, 50 participantes) e G2 (fissura bilateral, 50 participantes). Para a coleta de dados, foram utilizados três instrumentos: Questionário Sociodemográfico, a Escala de Religiosidade de Durel e a Escala de Autoestima de Rosenberg. Utilizaram-se para a análise estatística os Testes Qui-Quadrado, Mann-Whitney, Correlação de Pearson e a análise das forças de correlação linear, com nível de significância de 5% (p ≥ 0,05). Resultados Apenas a religiosidade organizacional foi maior no G1 em comparação com o G2 (p = 0,03). A autoestima geral foi satisfatória em ambos os grupos; contudo, não houve diferença significante entre eles (p = 0,34). Não foram evidenciadas correlações de religiosidade e espiritualidade com a autoestima nos G1 e G2. Conclusão Adolescentes com fissura de lábio e palato, uni ou bilateral, apresentaram elevados níveis de religiosidade, espiritualidade e autoestima. Porém, não se evidenciou correlação entre essas variáveis.

RESUMEN Objetivo Evaluar la correlación entre religiosidad, espiritualidad y autoestima en adolescentes con labio y paladar hendido unilateral y bilateral. Método Estudio correlacional y transversal desarrollado en un hospital público y terciario de Brasil entre julio de 2018 y febrero de 2019. La muestra consistió en 100 adolescentes divididos en dos grupos, G1 (fisura unilateral, 50 participantes) y G2 (fisura bilateral, 50 participantes). Para la recogida de datos se utilizaron tres instrumentos: Cuestionario sociodemográfico, Escala de Religiosidad DUREL y Escala de Autoestima de Rosenberg. Para el análisis estadístico se utilizaron los testes de Chi-cuadrado, Mann-Whitney, correlación de Pearson y el análisis de la fuerza de correlación lineal, con un nivel de significación del 5% (p ≥ 0,05). Resultados Sólo la religiosidad organizacional fue mayor en el G1 en comparación con el G2 (p = 0,03). La autoestima general fue satisfactoria en ambos grupos, pero no hubo diferencias significativas entre ellos (p = 0,34). No se evidenciaron correlaciones de religiosidad y espiritualidad con la autoestima en G1 y G2. Conclusión Los adolescentes con labio y paladar hendido unilateral o bilateral presentan elevados niveles de religiosidad, espiritualidad y autoestima. Sin embargo, no se evidenció una correlación entre estas variables.

ABSTRACT Objective To evaluate the correlation between religiosity, spirituality, and self-esteem in adolescents with uni- and bilateral cleft lip and palate. Method Correlational and cross-sectional study developed in a public and tertiary hospital in Brazil between July 2018 and February 2019. The sample comprised 100 adolescents divided into two groups: G1 (unilateral cleft, 50 participants) and G2 (bilateral cleft, 50 participants). For data collection, three instruments were used: Sociodemographic Questionnaire, DUREL Religion index, Rosenberg self-esteem scale. Statistical analysis was performed with the tests Chi-squared, Mann-Whitney, Pearson Correlation, and analysis of linear correlation strength, with a 5% significance level (p ≥ 0.05). Results Only organizational religiosity was higher in G1 when compared with G2 (p = 0.03). The overall self-esteem was satisfactory for both groups; however, there was no significant difference between them (p = 0.34). No correlation between religiosity and spirituality with self-esteem were identified for G1 and G2. Conclusion The adolescents with uni- or bilateral cleft lip and palate presented high levels of religiosity, spirituality, and self-esteem. However, no correlation between these variables was identified.

[Association between platelet-derived growth factor-C single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in Western Chinese population].

OBJECTIVE: To explore the association between two single nucleotide polymorphisms (SNPs), namely, rs4691383 and rs7667857, in the platelet-derived growth factor-C (PDGF-C) gene, the genotypes, environmental exposure factors, and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Western Chinese population. METHODS: A total of 268 case-parent trios were selected, and two SNPs (rs4691383 andrs7667857) were genotyped by using polymerase chain reaction and restriction enzyme fragment length polymorphic method and direct sequencing method. Hardy-Weinberg equilibrium, linkage disequilibrium test, transmission disequilibrium test, and haplotype analysis were conducted to analyze the data. Meanwhile, the questionnaires on the epidemiology of cleft lip and palate filled by the included samples were collected, and the interaction between the genotypes of the two SNPs and environmental exposure factors was assessed by conditional logistic regression. RESULTS: The A allele at rs4691383 and the G allele at rs7667857 of PDGF-C gene were over-transmitted for NSCL/P (P<0.05). No interaction effect was observed between the three environmental exposure factors (history of smoking/passive smoking, folic acid supplementation, and long-term inhalation of harmful environmental gases) and the PDGF-C genotypes among NSCL/P (P>0.05). CONCLUSIONS: The rs4691383 and rs7667857 at PDGF-C gene are closely related to the occurrence of NSCL/P in Western Chinese population. However, the interaction between environmental exposure factors and PDGF-C genotypes is not obvious in the occurrence of NSCL/P.

Estudos de casos múltiplos: escolares com fissura labiopalatina no contexto da avaliação foniátrica / Multiple case studies: schoolchildren with cleft lip and palate in context of phoniatric evaluation / Múltiplesestudios de caso: escolares conlábio leporino y paladar hendido en el contexto de la evaluación foniátrica

Introdução: A foniatria tem interesse em fissura labiopalatina (FLP) devido à complexidade em aspectos de fala, linguagem e audição. Objetivo: No contexto da avaliação foniátrica em crianças escolares com fissura labiopalatina, o objetivo do estudo de múltiplos casos foi descrever a interferência de fatores clínicos no desempenho em testes da função perceptiva auditiva de linguagem, assim como a associação entre eles. Método: Trinta crianças, entre 6 anos e 2 meses e 9 anos e 11 meses, foram avaliadas pelo médico foniatra, em serviço interdisciplinar de tratamento da FLP: 13 (43%) fissura pós-forame incisivo e 17 (57%) fissura transforame incisivo. Foram descritos os fatores clínicos (incluindo tipo de fissura, idade na avaliação, sexo, condição socioeconômica, desempenho escolar, realização de fototerapia, exame audiológico e outros) e o desempenho em testes de discriminação auditiva, memória auditiva e consciência fonológica, incluindo a associação entre eles. Resultados: Não houve diferença significativa entre os grupos de fissura e médias de idade (p=0,618), sexo (p=0,431), nível socioeconômico (p=0,580) e desempenho escolar (p=0,785).A porcentagem de crianças que fez terapia é maior no grupo de fissura transforame (94,1%). Alterações nos testes: 4 crianças (13,3%) discriminação auditiva, 6 (20%) memória auditiva e 8 (26,7%) consciência fonológica. Os casos com desempenho escolar insatisfatório, mais tempo de fonoterapia e piores médias do limiar de reconhecimento de fala tiveram desempenho pior em memória auditiva e consciência fonológica. Conclusão: A avaliação foniátrica possibilitou o apontamento de fatores clínicos da fissura, que parecem, de alguma forma, interferir no desenvolvimento da linguagem destas crianças.

Introduction: Phoniatrics is interested in cleft lip and palate (CLP) due to the complexity in aspects of speech, language and hearing. Objective: In context of phoniatric evaluation in schoolchildren with CLP, the objective of multiple cases study was to describe the interference of clinical factors in the performance in tests of auditory perceptual function of language, as well as the association between them. Method: Thirty children, between 6 years and 2 months and 9 years and 11 months, were evaluated by Phoniatric doctor, in interdisciplinary treatment service for CLP: 13 (43%) cleft palate and 17 (57%) cleft lip and palate. Clinical factors (including type of cleft, age at evaluation, sex, socioeconomic status, school performance, speech therapy, audiological examination and others) and performance in tests of auditory discrimination, auditory memory and phonological awareness were described, including the association between them. Results: There was no significant difference between the cleft groups and the mean age (p = 0.618), sex (p = 0.431), socioeconomic level (p = 0.580) and school performance (p = 0.785). The percentage of children who had attended therapy is higher in cleft lip and palate group (94.1%). Changes in tests: 4 (13.3%) auditory discrimination, 6 (20%) auditory memory and 8 (26.7%) phonological awareness. The cases with unsatisfactory school performance, more speech therapy time and worse speech recognition thresholds had a worse performance in auditory memory and phonological awareness. Conclusion: The phoniatric evaluation made it possible to identify clinical factors of the cleft, which seems, in some way, to interfere in the language development of these children.

Introducción: Foniátrica está interesado en el labio leporino y paladar hendido debido a la complejidad en los aspectos del habla, el lenguaje y la audición. Objetivo: El contexto de la evaluación foniatría en escolares con labio leporino y paladar hendido, el objetivo del estudio de múltiples casos fue describir la interferencia de factores clínicos en el desempeño en las pruebas de la función auditiva perceptiva del lenguaje, así como la asociación entre ellos. Método: Treinta niños, entre 6 años y 2 meses y 9 años y 11 meses de edad, fueron evaluados por un médico foniátrico, en un centro de tratamiento interdisciplinario para labio leporino y paladar hendido: 13 (43%) paladar hendido y 17 (57%) labio leporino y paladar hendido. Se describieron y verificaron los factores clínicos (incluido el tipo de hendidura, la edad en la evaluación, el sexo, el estado socioeconómico, el rendimiento escolar, la fototerapia, el examen audiológico y otros) y el rendimiento en las pruebas de discriminación auditiva, memoria auditiva y conciencia fonológica, incluida la asociación entre ellos. Resultados: No hubo diferencias significativas entre los grupos de hendidura y la edad media (p = 0.618), sexo (p = 0.431), nivel socioeconómico (p = 0.580) y rendimiento escolar (p = 0.785). El porcentaje de niños que se sometieron a terapia es mayor en el grupo de paladar hendido y labio leporino (94.1%). Cambios en las pruebas: 4 niños (13.3%) discriminación auditiva, 6 (20%) memoria auditiva y 8 (26.7%) conciencia fonológica. Los casos con un rendimiento escolar insatisfactorio, más tiempo de terapia del habla y peores umbrales de reconocimiento del habla tuvieron un peor rendimiento en la memoria auditiva y la conciencia fonológica. Conclusión: La evaluación foniátrica permitió identificar factores clínicos de la hendidura, que de alguna manera, parece interferir en el desarrollo del lenguaje de estos niños.

A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.

Cleft lip and palate (CL/P) is among the most common congenital malformations and affects 1 in 700 newborns. CL/P is caused by genetic and environmental factors (maternal smoking, alcohol or drug use and others). Many genes and loci were associated with cleft lip/palate but the amount of heterogeneity justifies identifying new causal genes and variants. AHRR (Aryl-Hydrocarbon Receptor Repressor) gene has recently been related to CL/P however, few functional studies analyze the genotypephenotype interaction of AHRR with CL/P. Several studies associate the molecular pathway of AHRR to CL/P which indicates this gene as a functional candidate in CL/P etiology. METHODS: Systematic Literature Review was performed using PUBMED database with the keywords cleft lip, cleft palate, orofacial cleft, AHRR and synonyms. SLR resulted in 37 included articles. RESULTS: AHRR is a positional and functional candidate gene for CL/P. In silico analysis detected interactions with other genes previously associated to CL/P like ARNT and CYP1A1. AHRR protein regulates cellular toxicity through TCDD mediated AHR pathway. Exposure to TCDD in animal embryos is AHR mediated and lead to cleft palate due to palate fusion failure and post fusion rupture. AHRR regulates cellular growth and differentiation, fundamental to lip and palatogenesis. AHRR decreases carcinogenesis and recently a higher tumor risk has been described in CL/P patients and families. AHRR is also a smoking biomarker due to changed methylation sites found in smokers DNA although folate intake may partially revert these methylation alterations. This corroborates the role of maternal smoking and lack of folate supplementation as risk factors for CL/P. CONCLUSION: This research identified the importance of AHRR in dioxin response and demonstrated an example of genetic and environmental interaction, indispensable in the development of many complex diseases.

Avaliação do conhecimento dos cirurgiões-dentistas e do perfil da assistência bucal prestada na atenção primária à saúde das fissuras orofaciais / Evaluation of the knowledge of dental surgeons and the profile of oral care provided in the primary health care of orofacial fissures

Introdução: a fissura orofacial pode ser definida como uma falta de fusão de determinadas estruturas da face, durante o desenvolvimento embrionário, sendo descritas como um dos defeitos de nascimento mais comuns encontrados nas populações do mundo. Sua etiologia é multifatorial, envolvendo alterações genéticas e fatores ambientais de risco no primeiro trimestre da gestação. Objetivos: analisar o conhecimento dos cirurgiões-dentistas sobre as fissuras e o perfil da assistência bucal prestada na atenção primária em saúde para a ocorrência de fissuras orofaciais. Metodologia: estudo descritivo censitário, aplicado por meio de um questionário, que envolveu 70 cirurgiões-dentistas que atuam na atenção primária de uma cidade do interior da Bahia, Brasil, e investigou a experiência clínica e profissional, conhecimentos básicos sobre fissuras, experiência no atendimento aos portadores de necessidades especiais com ênfase nos portadores de fissuras e o perfil da assistência à saúde bucal prestada a esses indivíduos no município. Resultados: o estudo mostrou que 50% dos participantes (n=35) possuíam pós-graduação, que 81,5% (n=57) tem mais de 05 anos de formados e que 60% (n=42) tem pelo menos 10 anos de serviço público. Observou-se reduzido conhecimento específico sobre o tema e desinformação sobre a existência de centros multidisciplinares para atendimento especializado desse público no país e no estado. Conclusões: observou-se reduzido conhecimento sobre as FO entre os CD, principalmente no tocante a orientação quanto à prevenção e aos cuidados bucais necessários com o portador, além da desinformação quanto à existência de instituições multidisciplinares que prestam assistência especializada de média e alta complexidade. Dessa forma, sugere-se a necessidade de adequar o serviço de saúde para facilitar e garantir o acesso desses portadores ao atendimento integral, além de contribuir para a prevenção de novos casos.

Introduction: the orofacial fissure can be defined as a lack of fusion of certain structures of the face, during embryonic development, being described as one of the most common birth defects found in the populations of the world. Its etiology is multifactorial, involving genetic changes and environmental risk factors in the first trimester of pregnancy. Objectives: to analyze the knowledge of dentists about clefts and the profile of oral care provided in primary health care for the occurrence of orofacial clefts. Methodology: a descriptive census study, applied through a questionnaire, involving 70 dentists who work in primary care in a city in the interior of Bahia, Brazil, and investigated the clinical and professional experience, basic knowledge about cracks, experience in assisting people with special needs with an emphasis on patients with clefts and the profile of oral health care provided to these individuals in the municipality. Results: the study showed that 50% (n = 35) had postgraduate degrees, that 81.5% (n = 57) graduated and that 60% (n = 42) had at least 10 years of public service. There was little specific knowledge on the subject and lack of information on the existence of multidisciplinary centers for specialized care of this public in the country and in the state. Conclusions: it was observed that knowledge about FO was reduced among the DC, especially with regard to guidance on prevention and the necessary oral care for the patient, in addition to the lack of information regarding the existence of multidisciplinary institutions that provide specialized assistance of medium and high complexity. Thus, it is suggested the need to adapt the health service to facilitate and guarantee the access of these patients to comprehensive care, in addition to contributing to the prevention of new cases.

Uranium concentration in umbilical cord may increase the risk for orofacial clefts.

BACKGROUND: Orofacial clefts (OFCs) are common kind of congenital malformations. The teratogenicity of uranium (U) has been documented in animal study that maternal exposure to U can increase incidence of external malformations including cleft palate. However, there is limited evidence of the association of in utero exposure to U with OFCs risk in humans. OBJECTIVE: This study aimed to investigate the association between in utero exposure to U and the risk of OFCs and its subtypes. METHOD: All subjects were from a case-control study in Shanxi Province, northern China. Eighty-four OFCs cases and 142 healthy controls were included in this study. We used U concentration in umbilical cord as biomarkers to represent intrauterine exposure, which was detected by inductively coupled plasma mass spectrometry. Unconditional logistic regression was used to investigated the association between U level and the risk of OFCs and its subtypes. RESULTS: The median of U concentration in umbilical cord is 0.745 ng/g in case group and 0.455 ng/g in control group. When the U concentration was divided into two categories, high level of U exposure increased the risk of OFCs (OR: 2.08, 95% CI: 1.13-3.86) and its subtype cleft lip with cleft palate (CLP) (OR: 2.72, 95% CI: 1.21-6.14). When divided into three categories, high level of U elevated the risk for OFCs (OR: 2.40, 95% CI: 1.14-5.06) and CLP (OR: 3.04, 95% CI: 1.20-7.74). Meanwhile, a dose-response relationship between the U concentration and the risk of total OFCs (P for trend = 0.009) and CLP (P for trend = 0.007) was found. CONCLUSION: Our study found that in utero exposure to high level of U was associated with increased risk of OFCs and its subtype CLP.