Background: In developing countries, charity cleft surgical mission is always operated by sporadic surgical teams without systematic follow up and quality assurance. In the past few decades, many mission projects have...Background: In developing countries, charity cleft surgical mission is always operated by sporadic surgical teams without systematic follow up and quality assurance. In the past few decades, many mission projects have been held regularly in China. The purpose of this audit was a retrospective analysis of a 9-year cleft lip and palate charity project operated in a tertiary hospital in China Shenzhen Area to evaluate perioperative and postoperative complications. Nevertheless, understanding the risk profile is essential for establishing a sustainable in-house cleft service in Shenzhen. Methods: A detailed analysis of hospital centralized record in the The University of Hong Kong-Shenzhen Hospital (HKUSZH) was reviewed since the first charity project held in 2015. The parameters of this audit were focused on perioperative complications including anesthesia related problems, early postoperative complications in patients who underwent primary or secondary cleft surgeries. A total of 430 consecutive admitted cases of 311 non-syndromic cleft lip & palate patients were enrolled into the charity project from June 2015 to July 2024. The main anesthesia related complications that occurred during general anesthesia were respiratory tract problems, while intraoperative complication was excessive bleeding, so as wound local infection and reaction were the main early postoperative complications. Results: In our 9-year clinical audit of 430 cleft lip and palate charity surgeries in Shenzhen, we observed no mortalities and a anesthesia-related complication rate of 1.16%. Specific intraoperative complications included excessive bleeding, while early postoperative issues were dominated by wound infections. The fistula rate of 18.7% post palate repair and the average hospital stay of 3.71 days complete the profile of our surgical outcomes. These data underscore the project’s efficacy and offer a reference for international cleft missions aiming for safe and efficient surgical care. Conclusions: This study provides a thorough data review of the complications in the past 9 years charity missions for cleft lip and palate surgery in a well-structured hospital infrastructure and logistic support by local surgical team. There were no perioperative or postoperative death during the study period and the overall short-term complication rate was low. Therefore, it could be a reference model for other international cleft mission in developing country for a safe and efficient service in future.展开更多
Periodontal disease is a risk factor for many systemic diseases such as Alzheimer’s disease and adverse pregnancy outcomes.Cleft palate(CP),the most common congenital craniofacial defect,has a multifaceted etiology i...Periodontal disease is a risk factor for many systemic diseases such as Alzheimer’s disease and adverse pregnancy outcomes.Cleft palate(CP),the most common congenital craniofacial defect,has a multifaceted etiology influenced by complex genetic and environmental risk factors such as maternal bacterial or virus infection.A prior case-control study revealed a surprisingly strong association between maternal periodontal disease and CP in offspring.However,the precise relationship remains unclear.In this study,the relationship between maternal oral pathogen and CP in offspring was studied by sonicated P.gingivalis injected intravenously and orally into pregnant mice.We investigated an obvious increasing CP(12.5%)in sonicated P.gingivalis group which had inhibited osteogenesis in mesenchyme and blocked efferocytosis in epithelium.Then glycolysis and H4K12 lactylation(H4K12la)were detected to elevate in both mouse embryonic palatal mesenchyme(MEPM)cells and macrophages under P.gingivalis exposure which further promoted the transcription of metallopeptidase domain17(ADAM17),subsequently mediated the shedding of transforming growth factor-beta receptor 1(TGFBR1)in MEPM cells and mer tyrosine kinase(MerTK)in macrophages and resulted in the suppression of efferocytosis and osteogenesis in palate,eventually caused abnormalities in palate fusion and ossification.The abnormal efferocytosis also led to a predominance of M1 macrophages,which indirectly inhibited palatal osteogenesis via extracellular vesicles.Furthermore,pharmacological ADAM17 inhibition could ameliorate the abnormality of P.gingivalis-induced abnormal palate development.Therefore,our study extends the knowledge of how maternal oral pathogen affects fetal palate development and provides a novel perspective to understand the pathogenesis of CP.展开更多
Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formatio...Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans.展开更多
Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and pal...Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.展开更多
Background: The Ghana Expanded Programme on Immunisation recommends that children receive Bacillus Calmette-Guerin (BCG) and Oral Polio Vaccine (OPV) at birth;three doses of Penta vaccine and OPV at 6, 10 and 14 weeks...Background: The Ghana Expanded Programme on Immunisation recommends that children receive Bacillus Calmette-Guerin (BCG) and Oral Polio Vaccine (OPV) at birth;three doses of Penta vaccine and OPV at 6, 10 and 14 weeks of age;and measles vaccine at 9 months of age. Aim/Objective: To evaluate the immunisation status of children born with orofacial clefts who visited the KATH multidisciplinary Cleft clinic. Methodology/Statistics: The study was a descriptive study with a cross-sectional design. The methodology consisted of in-person interviews of mothers of children born with cleft lip and palate reporting at KATH Cleft clinic. Interview guides were used for mothers who could not read. Mothers who were literate and as such could answer the questions directly were given questionnaires to fill. Result: It was reported that of the 83 children included, 47 (57%) had been fully vaccinated and on time, 24 (29%) had been fully vaccinated but delayed and 12 (14%) had not been vaccinated at all. Children with isolated cleft palate and macrostomia were fully vaccinated on time (77.3% and 100%, respectively) as compared to those with combined cleft lip and palate (43.3%) and isolated cleft lip (50.0%). The majority (77%) of the mothers who either had not vaccinated their children or had delayed in vaccinating them attributed stigmatisation as the main cause. Most of the mothers (95%) had knowledge of immunisation. About two-thirds of the mothers (65%) agreed that establishing an immunisation centre at the cleft clinic is the best way to improve immunisation rate among children with orofacial clefts. Conclusion: The study showed that the percentage of children with orofacial cleft who visited the KATH Cleft Clinic and were vaccinated on time was above the national average. Cleft palates were more vaccinated and on time than cleft lips. According to the children’s mothers, lack of timely vaccination was mainly due to the stigma associated with clefts in their societies.展开更多
Objective To observe the clinical efficacy of fire needling and bloodletting at cleft points for acute gouty arthritis, and to explore its functional mechanism. Methods Thirty-five patients with acute gouty arthritis ...Objective To observe the clinical efficacy of fire needling and bloodletting at cleft points for acute gouty arthritis, and to explore its functional mechanism. Methods Thirty-five patients with acute gouty arthritis were enrolled into this study, and fire needling and bloodletting with 10 mL/ time were applied at cleft points of corresponding meridians and collaterals at the affected side. The treatment was conducted for once every other day, and treatment for three consecutive times was needed. Serum uric acid （UA） and pain score were tested in patients before treatment and on the 6th day after treatment, follow-up visit for 3 months was performed in patients who stopped treatment, and recurrence rate was calculated. Results Budzyuski 6-point behavioral rating scale was applied to score pain. T-test was conducted on mean and standard deviation of pain score before treatment （4.09 ＋ 0.82） and after treatment （1.14 ＋ 1.33）, showing that the difference was significant （P〈0.05）; t-test was also conducted on mean and standard deviation of serum UA before treatment [（555.34 ＋ 53.09） pmol/L] and after treatment [（414.23 ＋ 67.04） pmol/L], showing that the difference was significant （P〈0.05）; among the 35 patients with acute gouty arthritis, 14 patients were cured （40.0%）, improvement was found in 19 patients （54.3%）, and effectiveness was found in 33 patients （94.3%）. Based on follow-up visit for 3 months in 33 patients with efficacy, recurrence was found in 3 patients （9.1%）. Conclusion Fire needling and bloodletting at cleft points is an effective method in treatment of acute gouty arthritis with significant analgesic effect, efficacy of reducing serum UA, high cure rate and low recurrence rate, which is worth of being generalized clinically.展开更多
Non-syndromic cleft lip with or without cleft palate （nsCL/P） is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, enc...Non-syndromic cleft lip with or without cleft palate （nsCL/P） is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A 1298C variants in the pathogenesis of nsCL/P in northern Venezuela.展开更多
BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed pre...BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed prenatally rather than at birth.Although three-dimensional US(3DUS)can render the fetus'face via 3D reconstruction,the 3D images are displayed on two-dimensional screens without field depth,which impedes the understanding of untrained individuals.In contrast,a 3D-printed model of the fetus'face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects.Herein,we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation.The coronal nostril-lip section of two-dimensional US(2DUS)demonstrated that the fetus'bilateral oral commissures were asymmetrical,and left oral commissure was abnormally wide.The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek.The results of 3DUS confirmed the cleft.Furthermore,we created a model of the fetal face using 3D printing technology,which clearly presented facial malformations.The fetus was diagnosed with a left lateral facial cleft,which was categorized as a No.7 facial cleft according to the Tessier facial cleft classification.The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.CONCLUSION In the diagnostic course of the current case,in addition to the traditional application of 2D and 3DUS,we created a 3D-printed model of the fetus,which enhanced diagnostic evidence,benefited the education of junior doctors,improved parental counseling,and had the potential to guide surgical planning.展开更多
Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they ...Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they are not specific to children. The aim of this study was to report the epidemiological, clinical and therapeutic aspects of cleft lip and/or palate in children in a low-income country. Materials and Method: The authors conducted a retrospective descriptive study based on data of three humanitarian missions of pediatric reconstructive facial surgery which took place in 2007, 2010 and 2014 at Clinique El Fateh-Suka in Ouagadougou, Burkina Faso. All children of 0 - 14 years of age, presenting with cleft lip and/or palate, were included in the study. Results: A total of 185 cases of cleft lip and/or palate were seen during these three humanitarian surgery missions. There were 100 boys and 85 girls. The average age of the children was 2.4 ± 3.2 years [0 - 12 years];there were 8.7% newborns. The commonest type of cleft was cleft lip and palate (49.7%) followed by isolated cleft lip (48.7%) and isolated cleft palate (1.6%). The left side was the most affected (49.2%). In 21.1% of cases, clefts were associated with other congenital malformations. In total, 150 of 185 (81.1%) children underwent surgery and there were no postoperative complications reported. Conclusions: Epidemiological and clinical characteristics of cleft lip and/or palate observed in this study are not very different from those described elsewhere in Africa. However, in our conditions, there are circumstances and structural factors which hinder the diagnosis and constitute challenges that must be addressed for adequate management of this congenital, highly disfiguring malformation.展开更多
This report describes a two-step surgical correction of an isolated left-sided congenital alar cleft in a 21-year-old male patient presenting with a 9×6.5 mm^(2)-sized cleft.Malformations of the alar structure an...This report describes a two-step surgical correction of an isolated left-sided congenital alar cleft in a 21-year-old male patient presenting with a 9×6.5 mm^(2)-sized cleft.Malformations of the alar structure and displacement of the lower lateral cartilage were observed.All flaps survived,and the patient was completely satisfied with the surgical results.This surgical treatment is simple and reliable,can greatly improve the nasal appearance of patients with alar clefts,and may be an alternative to the current surgical treatment.展开更多
All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third...All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third degree relatives were 1.53% (60/3927), 0.22% (25/11359), 0.30% (31/10296) respectively. In 17 cases, either of propositi’s parents had cleft, the incidence of cleft among propositi’s siblings was 9.52% (2/21). In 34 cases, the incidence of rest propositi’s siblings beyond those whose one sib had cleft or more is 5% (4/80), whereas both their parents were normal. Based on above, all incidences of different order relatives were higher than population ones. Furthermore, it is demonstrable that the closer the consanguinity is, the higher the incidence is, and if there was cleft in one family, the incidence increased obviously among his siblings or children, revealing apparent family tendency. In this group, the heritability is 46.80%.展开更多
Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mi...Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects： early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau＇s pushback palatoplasty and Langenbeck＇s palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Stilt, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not.展开更多
Objective： To address the effect of intrinsic factors on craniofacial growth by analyzing the craniofacial morphology of unoperated isolated cleft palate in Chinese adult. Materials and Methods： This study included ...Objective： To address the effect of intrinsic factors on craniofacial growth by analyzing the craniofacial morphology of unoperated isolated cleft palate in Chinese adult. Materials and Methods： This study included 37 nonsyndromic isolated cleft palate and 39 age and gender matched non-clefts. Twenty-six cephalometric measurements were employed to evaluate the facial morphology. Independent samples T test and Mann- Whitney U were used for comparison. Significant difference was defined at 95% level. Results： Data from this study showed patients with unoperated isolated cleft palate have a reduced maxillary sagittal length （ANS-PMP, A-PMP, P〈0.05）, a smaller ANB angle （ANB, P〈0.05） and a retrusive ANS point （S-N-ANS, P〈0.05; Ba-N-ANS, P〈0.05）. Measurements descripted position of maxilla （S-Ptm, P〉0.05）, depth of bony pharynx （Ba-PMP, P〉0.05）, anterior and posterior maxillary height （N-ANS, P〉0.05; R-PMP, P〉0.05） and mandible morphology （including linear measurements and angle measurements） did not show any significant difference between case and control groups. Conclusions： Patients with isolated cleft palate were characterized by maxillary retrusion. Mandible morphology and cranial basal morphology in isolated cleft palate showed no significant difference with nonclefts. Patients with isolated cleft palate are more vulnerable to cross bite than nonclefts. Intrinsic deficiencies did detrimental effect on maxilla sagittal length, but did no detrimental effect on maxilla position, mandible size and position.展开更多
The purpose of this study was to investigate the effect of vitamin B12 on palatal development by co-administration of 2,3,7,8-tetrachlorodibenzo-p-dioxin （TCDD） and dexamethasone （DEX）. We examined the morphologic...The purpose of this study was to investigate the effect of vitamin B12 on palatal development by co-administration of 2,3,7,8-tetrachlorodibenzo-p-dioxin （TCDD） and dexamethasone （DEX）. We examined the morphological and histological features of the palatal shelf and expression levels of key signaling molecules （trans- forming growth factor-β3 （TGF-β3） and TGF-β3 type I receptor （activin receptor-like kinase 5, ALK5）） during pala- togenesis among a control group （Group A）, TCDD＋DEX exposed group （Group B）, and TCDD＋DEX＋vitamin B12 exposed group （Group C）. While we failed to find that vitamin B12 decreased the incidence of cleft palate induced by TCDD＋DEX treatment, the expression levels of key signaling molecules （TGF-~3 and ALK5） during palatogenesis were significantly modulated. In TCDD＋DEX exposed and TCDD＋DEX＋vitamin B12 exposed groups, palatal shelves could not contact in the midline due to their small sizes. Our results suggest that vitamin B12 may inhibit the expression of some cleft palate inducers such as TGF-β3 and ALK5 in DEX＋TCDD exposed mice, which may be beneficial against palatogenesis to some degree, even though we were unable to observe a protective role of vitamin B12 in morphological and histological alterations of palatal shelves induced by DEX and TCDD.展开更多
This study investigated the role of long non‐coding RNAs（lnc RNAs） in the development of the palatal tissues. Cleft palates in mice were induced by 2,3,7,8‐tetrachlorodibenzo‐p‐dioxin（TCDD）. Expression levels ...This study investigated the role of long non‐coding RNAs（lnc RNAs） in the development of the palatal tissues. Cleft palates in mice were induced by 2,3,7,8‐tetrachlorodibenzo‐p‐dioxin（TCDD）. Expression levels of long non‐coding RNA H19（lncR NA H19） and insulin‐like growth factor 2（IGF2） gene were measured by quantitative real‐time polymerase chain reaction（q RT‐PCR）. The rate of occurrence of cleft palate was found to be 100% by TCDD exposure, and TCDD could cause short upper limb, cerebral fissure, webbed neck, and short neck. The expression levels of lnc RNA H19 and IGF2 gene specifically showed embryo age‐related differences on E13, E14, and E15 in the palatal tissues. The expression levels of lnc RNA H19 and IGF2 gene showed an inverse relationship on E13, E14, and E15. These findings demonstrated that lnc RNA H19 and IGF2 can mediate the development of mouse cleft palate.展开更多
A rapid, safe, and efficient method for the synthesis of novel molecular clefts based on deoxycholic acid was reported. Seven new molecular clefts have been synthesized in good yields （89-98%）. This method proved to...A rapid, safe, and efficient method for the synthesis of novel molecular clefts based on deoxycholic acid was reported. Seven new molecular clefts have been synthesized in good yields （89-98%）. This method proved to be extremely simple and highly efficient. The structures of these receptors were confirmed by 1H NMR, IR, MS spectra and elemental analysis. 2007 Zhi Gang Zhao. Published by Elsevier B.V. on behalf of Chinese Chemical Society. All rights reserved.展开更多
Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was...Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase （BHMT） gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms （SNPs） present in the BHMT gene （rs651852, rs3797546, and rs3733890） were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT＋CT genotype （P=0.020, OR=2.10, 95% CI=1.11‐3.95）. Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.展开更多
Objective To evaluate the effects of retinoic acid （RA） on expression of bone morphogenetic protein 7 （ BMP-7 ） in rat fetus with cleft palate, and the effects of RA on proliferation and apoptosis of osteoblasts. ...Objective To evaluate the effects of retinoic acid （RA） on expression of bone morphogenetic protein 7 （ BMP-7 ） in rat fetus with cleft palate, and the effects of RA on proliferation and apoptosis of osteoblasts. Methods All-trans RA （ATRA） was used to induce congenital cleft palate in Wistar rat. BMP-7 mRNA expression in maxillary bone tissue of fetal rats was measured by Northern blotting analysis. Flow cytometry and MTF assay were used to measure the apoptosis and proliferation of ATRA-treated MC-3T3-E1 cells. BMP-7 mRNA and protein expressions in ATRA-treated MC-3T3-E1 cells were detected by RT-PCR and Western blotting analysis. Remilts ATRA could induce cleft palate of rat fetus. The incidence rate of cleft palate induced by 100 mg/kg AT-RA （45.5%） was significantly higher than 50 mg/kg ATRA （ 12.5%, P 〈 0. 05 ）. BMP-7 mRNA expression decreased in maxillary bone tissue of rat fetus with cleft palate. MC-3T3-E1 cells proliferation treated with 1 × 10^-6 mol/L ATRA decreased by 60%, the cell apoptosis increased by 2 times. BMP-7 mRNA and protein levels in MC-3T3-E1 cells treated with 1 × 10^-6 mol/L ATRA decreased by 60% and 80%, respectively, compared with ATRA-untreated cells （ P 〈 0.05 ）. Conclusions BMP-7 may play an important role in embryonic palate development. RA may possess the ability to down-regulate cell proliferation through regulation of BMP-7 gene expression.展开更多
文摘Background: In developing countries, charity cleft surgical mission is always operated by sporadic surgical teams without systematic follow up and quality assurance. In the past few decades, many mission projects have been held regularly in China. The purpose of this audit was a retrospective analysis of a 9-year cleft lip and palate charity project operated in a tertiary hospital in China Shenzhen Area to evaluate perioperative and postoperative complications. Nevertheless, understanding the risk profile is essential for establishing a sustainable in-house cleft service in Shenzhen. Methods: A detailed analysis of hospital centralized record in the The University of Hong Kong-Shenzhen Hospital (HKUSZH) was reviewed since the first charity project held in 2015. The parameters of this audit were focused on perioperative complications including anesthesia related problems, early postoperative complications in patients who underwent primary or secondary cleft surgeries. A total of 430 consecutive admitted cases of 311 non-syndromic cleft lip & palate patients were enrolled into the charity project from June 2015 to July 2024. The main anesthesia related complications that occurred during general anesthesia were respiratory tract problems, while intraoperative complication was excessive bleeding, so as wound local infection and reaction were the main early postoperative complications. Results: In our 9-year clinical audit of 430 cleft lip and palate charity surgeries in Shenzhen, we observed no mortalities and a anesthesia-related complication rate of 1.16%. Specific intraoperative complications included excessive bleeding, while early postoperative issues were dominated by wound infections. The fistula rate of 18.7% post palate repair and the average hospital stay of 3.71 days complete the profile of our surgical outcomes. These data underscore the project’s efficacy and offer a reference for international cleft missions aiming for safe and efficient surgical care. Conclusions: This study provides a thorough data review of the complications in the past 9 years charity missions for cleft lip and palate surgery in a well-structured hospital infrastructure and logistic support by local surgical team. There were no perioperative or postoperative death during the study period and the overall short-term complication rate was low. Therefore, it could be a reference model for other international cleft mission in developing country for a safe and efficient service in future.
基金funded by grants from the National Natural Science Foundation of China(grant numbers 82170912 and 82370910)the Beijing Stomatological Hospital,Capital Medical University Young Scientist Program(No.YSP202404).
文摘Periodontal disease is a risk factor for many systemic diseases such as Alzheimer’s disease and adverse pregnancy outcomes.Cleft palate(CP),the most common congenital craniofacial defect,has a multifaceted etiology influenced by complex genetic and environmental risk factors such as maternal bacterial or virus infection.A prior case-control study revealed a surprisingly strong association between maternal periodontal disease and CP in offspring.However,the precise relationship remains unclear.In this study,the relationship between maternal oral pathogen and CP in offspring was studied by sonicated P.gingivalis injected intravenously and orally into pregnant mice.We investigated an obvious increasing CP(12.5%)in sonicated P.gingivalis group which had inhibited osteogenesis in mesenchyme and blocked efferocytosis in epithelium.Then glycolysis and H4K12 lactylation(H4K12la)were detected to elevate in both mouse embryonic palatal mesenchyme(MEPM)cells and macrophages under P.gingivalis exposure which further promoted the transcription of metallopeptidase domain17(ADAM17),subsequently mediated the shedding of transforming growth factor-beta receptor 1(TGFBR1)in MEPM cells and mer tyrosine kinase(MerTK)in macrophages and resulted in the suppression of efferocytosis and osteogenesis in palate,eventually caused abnormalities in palate fusion and ossification.The abnormal efferocytosis also led to a predominance of M1 macrophages,which indirectly inhibited palatal osteogenesis via extracellular vesicles.Furthermore,pharmacological ADAM17 inhibition could ameliorate the abnormality of P.gingivalis-induced abnormal palate development.Therefore,our study extends the knowledge of how maternal oral pathogen affects fetal palate development and provides a novel perspective to understand the pathogenesis of CP.
基金supported by the National Natural Science Foundation of China(No.81870747,82170916,81900984,and 82001030)the Fundamental Research Funds for the Central Universities(PKU2022XGK001)+2 种基金Natural Science Foundation of Beijing Municipality(7182184)Xi'an“Science and Technology+”Action Plan-Medical Research Project(20YXYJ0010[1])the Fundamental Research Funds for the Central Universities(xzy012020110).
文摘Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans.
文摘Cleft lip with or without cleft palate(CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.
文摘Background: The Ghana Expanded Programme on Immunisation recommends that children receive Bacillus Calmette-Guerin (BCG) and Oral Polio Vaccine (OPV) at birth;three doses of Penta vaccine and OPV at 6, 10 and 14 weeks of age;and measles vaccine at 9 months of age. Aim/Objective: To evaluate the immunisation status of children born with orofacial clefts who visited the KATH multidisciplinary Cleft clinic. Methodology/Statistics: The study was a descriptive study with a cross-sectional design. The methodology consisted of in-person interviews of mothers of children born with cleft lip and palate reporting at KATH Cleft clinic. Interview guides were used for mothers who could not read. Mothers who were literate and as such could answer the questions directly were given questionnaires to fill. Result: It was reported that of the 83 children included, 47 (57%) had been fully vaccinated and on time, 24 (29%) had been fully vaccinated but delayed and 12 (14%) had not been vaccinated at all. Children with isolated cleft palate and macrostomia were fully vaccinated on time (77.3% and 100%, respectively) as compared to those with combined cleft lip and palate (43.3%) and isolated cleft lip (50.0%). The majority (77%) of the mothers who either had not vaccinated their children or had delayed in vaccinating them attributed stigmatisation as the main cause. Most of the mothers (95%) had knowledge of immunisation. About two-thirds of the mothers (65%) agreed that establishing an immunisation centre at the cleft clinic is the best way to improve immunisation rate among children with orofacial clefts. Conclusion: The study showed that the percentage of children with orofacial cleft who visited the KATH Cleft Clinic and were vaccinated on time was above the national average. Cleft palates were more vaccinated and on time than cleft lips. According to the children’s mothers, lack of timely vaccination was mainly due to the stigma associated with clefts in their societies.
文摘Objective To observe the clinical efficacy of fire needling and bloodletting at cleft points for acute gouty arthritis, and to explore its functional mechanism. Methods Thirty-five patients with acute gouty arthritis were enrolled into this study, and fire needling and bloodletting with 10 mL/ time were applied at cleft points of corresponding meridians and collaterals at the affected side. The treatment was conducted for once every other day, and treatment for three consecutive times was needed. Serum uric acid （UA） and pain score were tested in patients before treatment and on the 6th day after treatment, follow-up visit for 3 months was performed in patients who stopped treatment, and recurrence rate was calculated. Results Budzyuski 6-point behavioral rating scale was applied to score pain. T-test was conducted on mean and standard deviation of pain score before treatment （4.09 ＋ 0.82） and after treatment （1.14 ＋ 1.33）, showing that the difference was significant （P〈0.05）; t-test was also conducted on mean and standard deviation of serum UA before treatment [（555.34 ＋ 53.09） pmol/L] and after treatment [（414.23 ＋ 67.04） pmol/L], showing that the difference was significant （P〈0.05）; among the 35 patients with acute gouty arthritis, 14 patients were cured （40.0%）, improvement was found in 19 patients （54.3%）, and effectiveness was found in 33 patients （94.3%）. Based on follow-up visit for 3 months in 33 patients with efficacy, recurrence was found in 3 patients （9.1%）. Conclusion Fire needling and bloodletting at cleft points is an effective method in treatment of acute gouty arthritis with significant analgesic effect, efficacy of reducing serum UA, high cure rate and low recurrence rate, which is worth of being generalized clinically.
基金supported by the grant DE13571 from the National Institutes of Health (R.A.S.),USAthe support from Rotaplast International, Inc. (M.M.T.),USA
文摘Non-syndromic cleft lip with or without cleft palate （nsCL/P） is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A 1298C variants in the pathogenesis of nsCL/P in northern Venezuela.
文摘BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum.With the development of ultrasonography(US)prenatal screening,such facial malformations can be detected and diagnosed prenatally rather than at birth.Although three-dimensional US(3DUS)can render the fetus'face via 3D reconstruction,the 3D images are displayed on two-dimensional screens without field depth,which impedes the understanding of untrained individuals.In contrast,a 3D-printed model of the fetus'face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects.Herein,we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation.The coronal nostril-lip section of two-dimensional US(2DUS)demonstrated that the fetus'bilateral oral commissures were asymmetrical,and left oral commissure was abnormally wide.The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek.The results of 3DUS confirmed the cleft.Furthermore,we created a model of the fetal face using 3D printing technology,which clearly presented facial malformations.The fetus was diagnosed with a left lateral facial cleft,which was categorized as a No.7 facial cleft according to the Tessier facial cleft classification.The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.CONCLUSION In the diagnostic course of the current case,in addition to the traditional application of 2D and 3DUS,we created a 3D-printed model of the fetus,which enhanced diagnostic evidence,benefited the education of junior doctors,improved parental counseling,and had the potential to guide surgical planning.
文摘Background: Cleft lip and/or palate are the most common orofacial malformations. Many studies, especially in developed countries have been conducted on this malformation, but in Burkina Faso, data are scarce and they are not specific to children. The aim of this study was to report the epidemiological, clinical and therapeutic aspects of cleft lip and/or palate in children in a low-income country. Materials and Method: The authors conducted a retrospective descriptive study based on data of three humanitarian missions of pediatric reconstructive facial surgery which took place in 2007, 2010 and 2014 at Clinique El Fateh-Suka in Ouagadougou, Burkina Faso. All children of 0 - 14 years of age, presenting with cleft lip and/or palate, were included in the study. Results: A total of 185 cases of cleft lip and/or palate were seen during these three humanitarian surgery missions. There were 100 boys and 85 girls. The average age of the children was 2.4 ± 3.2 years [0 - 12 years];there were 8.7% newborns. The commonest type of cleft was cleft lip and palate (49.7%) followed by isolated cleft lip (48.7%) and isolated cleft palate (1.6%). The left side was the most affected (49.2%). In 21.1% of cases, clefts were associated with other congenital malformations. In total, 150 of 185 (81.1%) children underwent surgery and there were no postoperative complications reported. Conclusions: Epidemiological and clinical characteristics of cleft lip and/or palate observed in this study are not very different from those described elsewhere in Africa. However, in our conditions, there are circumstances and structural factors which hinder the diagnosis and constitute challenges that must be addressed for adequate management of this congenital, highly disfiguring malformation.
基金the Ethics Committee at the Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine(approval no.SH9H-2021-T242)。
文摘This report describes a two-step surgical correction of an isolated left-sided congenital alar cleft in a 21-year-old male patient presenting with a 9×6.5 mm^(2)-sized cleft.Malformations of the alar structure and displacement of the lower lateral cartilage were observed.All flaps survived,and the patient was completely satisfied with the surgical results.This surgical treatment is simple and reliable,can greatly improve the nasal appearance of patients with alar clefts,and may be an alternative to the current surgical treatment.
文摘All of 1055 cleft-lip and/or cleft-palate cases with their 1055 families were investigated. As the results." the incidence of siblings of propositi is 2.2% (39/1791). The incidences of the first, second and third degree relatives were 1.53% (60/3927), 0.22% (25/11359), 0.30% (31/10296) respectively. In 17 cases, either of propositi’s parents had cleft, the incidence of cleft among propositi’s siblings was 9.52% (2/21). In 34 cases, the incidence of rest propositi’s siblings beyond those whose one sib had cleft or more is 5% (4/80), whereas both their parents were normal. Based on above, all incidences of different order relatives were higher than population ones. Furthermore, it is demonstrable that the closer the consanguinity is, the higher the incidence is, and if there was cleft in one family, the incidence increased obviously among his siblings or children, revealing apparent family tendency. In this group, the heritability is 46.80%.
文摘Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects： early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau＇s pushback palatoplasty and Langenbeck＇s palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Stilt, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not.
文摘Objective： To address the effect of intrinsic factors on craniofacial growth by analyzing the craniofacial morphology of unoperated isolated cleft palate in Chinese adult. Materials and Methods： This study included 37 nonsyndromic isolated cleft palate and 39 age and gender matched non-clefts. Twenty-six cephalometric measurements were employed to evaluate the facial morphology. Independent samples T test and Mann- Whitney U were used for comparison. Significant difference was defined at 95% level. Results： Data from this study showed patients with unoperated isolated cleft palate have a reduced maxillary sagittal length （ANS-PMP, A-PMP, P〈0.05）, a smaller ANB angle （ANB, P〈0.05） and a retrusive ANS point （S-N-ANS, P〈0.05; Ba-N-ANS, P〈0.05）. Measurements descripted position of maxilla （S-Ptm, P〉0.05）, depth of bony pharynx （Ba-PMP, P〉0.05）, anterior and posterior maxillary height （N-ANS, P〉0.05; R-PMP, P〉0.05） and mandible morphology （including linear measurements and angle measurements） did not show any significant difference between case and control groups. Conclusions： Patients with isolated cleft palate were characterized by maxillary retrusion. Mandible morphology and cranial basal morphology in isolated cleft palate showed no significant difference with nonclefts. Patients with isolated cleft palate are more vulnerable to cross bite than nonclefts. Intrinsic deficiencies did detrimental effect on maxilla sagittal length, but did no detrimental effect on maxilla position, mandible size and position.
基金Project supported by thc National Natural Science Foundation of China （Nos. 81000425 and 30530730） and the Sichuan Key Tech- nology R＆D Program （No. 2010SZ0098）, China
文摘The purpose of this study was to investigate the effect of vitamin B12 on palatal development by co-administration of 2,3,7,8-tetrachlorodibenzo-p-dioxin （TCDD） and dexamethasone （DEX）. We examined the morphological and histological features of the palatal shelf and expression levels of key signaling molecules （trans- forming growth factor-β3 （TGF-β3） and TGF-β3 type I receptor （activin receptor-like kinase 5, ALK5）） during pala- togenesis among a control group （Group A）, TCDD＋DEX exposed group （Group B）, and TCDD＋DEX＋vitamin B12 exposed group （Group C）. While we failed to find that vitamin B12 decreased the incidence of cleft palate induced by TCDD＋DEX treatment, the expression levels of key signaling molecules （TGF-~3 and ALK5） during palatogenesis were significantly modulated. In TCDD＋DEX exposed and TCDD＋DEX＋vitamin B12 exposed groups, palatal shelves could not contact in the midline due to their small sizes. Our results suggest that vitamin B12 may inhibit the expression of some cleft palate inducers such as TGF-β3 and ALK5 in DEX＋TCDD exposed mice, which may be beneficial against palatogenesis to some degree, even though we were unable to observe a protective role of vitamin B12 in morphological and histological alterations of palatal shelves induced by DEX and TCDD.
基金supported by the grants of the National Natural Science Foundation of China(81502843)college students’research and innovation program of Xinxiang Medical UniversityHenan Province Xinxiang Key Laboratory of medical tissue regeneration program
文摘This study investigated the role of long non‐coding RNAs（lnc RNAs） in the development of the palatal tissues. Cleft palates in mice were induced by 2,3,7,8‐tetrachlorodibenzo‐p‐dioxin（TCDD）. Expression levels of long non‐coding RNA H19（lncR NA H19） and insulin‐like growth factor 2（IGF2） gene were measured by quantitative real‐time polymerase chain reaction（q RT‐PCR）. The rate of occurrence of cleft palate was found to be 100% by TCDD exposure, and TCDD could cause short upper limb, cerebral fissure, webbed neck, and short neck. The expression levels of lnc RNA H19 and IGF2 gene specifically showed embryo age‐related differences on E13, E14, and E15 in the palatal tissues. The expression levels of lnc RNA H19 and IGF2 gene showed an inverse relationship on E13, E14, and E15. These findings demonstrated that lnc RNA H19 and IGF2 can mediate the development of mouse cleft palate.
文摘A rapid, safe, and efficient method for the synthesis of novel molecular clefts based on deoxycholic acid was reported. Seven new molecular clefts have been synthesized in good yields （89-98%）. This method proved to be extremely simple and highly efficient. The structures of these receptors were confirmed by 1H NMR, IR, MS spectra and elemental analysis. 2007 Zhi Gang Zhao. Published by Elsevier B.V. on behalf of Chinese Chemical Society. All rights reserved.
基金supported by the National Natural Science Foundation of China (grant number 307009907)Beijing Natural Science Foundation (grant number 7082038)Beijing Foundation for Excellent Elite (grant number 2010D003034000013)
文摘Objective Convincing evidence suggests a link between increased risk of nonsyndromic cleft lip with or without cleft palate （NSCL/P） and low intake of folic acid by the mother during pregnancy. The present study was designed to explore if genetic variation in the betaine‐homocysteine methyltransferase （BHMT） gene contributes to NSCL/P. Methods DNA was obtained from 166 individuals with NSCL/P and 285 healthy subjects. Three known single nucleotide polymorphisms （SNPs） present in the BHMT gene （rs651852, rs3797546, and rs3733890） were investigated by real‐time PCR‐based TaqMan genotyping. Results Neither allelic nor genotypic association was found between NSCL/P and SNPs rs651852 and rs3733890. SNP rs3797546 did not show allelic association with NSCL/P; however, a higher proportion of NSCL/P patients carry the CC genotype compared with the TT＋CT genotype （P=0.020, OR=2.10, 95% CI=1.11‐3.95）. Conclusion Our study suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner.
基金Supported by National Natural Science Foundation of China(30500414)Scientific Research Project in Department of Education of Liaoning Province(05L508,20061010)
文摘Objective To evaluate the effects of retinoic acid （RA） on expression of bone morphogenetic protein 7 （ BMP-7 ） in rat fetus with cleft palate, and the effects of RA on proliferation and apoptosis of osteoblasts. Methods All-trans RA （ATRA） was used to induce congenital cleft palate in Wistar rat. BMP-7 mRNA expression in maxillary bone tissue of fetal rats was measured by Northern blotting analysis. Flow cytometry and MTF assay were used to measure the apoptosis and proliferation of ATRA-treated MC-3T3-E1 cells. BMP-7 mRNA and protein expressions in ATRA-treated MC-3T3-E1 cells were detected by RT-PCR and Western blotting analysis. Remilts ATRA could induce cleft palate of rat fetus. The incidence rate of cleft palate induced by 100 mg/kg AT-RA （45.5%） was significantly higher than 50 mg/kg ATRA （ 12.5%, P 〈 0. 05 ）. BMP-7 mRNA expression decreased in maxillary bone tissue of rat fetus with cleft palate. MC-3T3-E1 cells proliferation treated with 1 × 10^-6 mol/L ATRA decreased by 60%, the cell apoptosis increased by 2 times. BMP-7 mRNA and protein levels in MC-3T3-E1 cells treated with 1 × 10^-6 mol/L ATRA decreased by 60% and 80%, respectively, compared with ATRA-untreated cells （ P 〈 0.05 ）. Conclusions BMP-7 may play an important role in embryonic palate development. RA may possess the ability to down-regulate cell proliferation through regulation of BMP-7 gene expression.
