Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants whic...Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants which represent vocal transmission character in Chinese pure vowels of 84 subjects with operated cleft palate, were measured by Computerized Speech Signal Processing System (CSSPS). The Chinese vowel graph of postoperative patients with cleft palate was stated by the first formant frequencies (F1) and the second formant frequencies (F2) of the Chinese pure vowels between the two groups. Results Values of F1 and F2 of vowels except [a] in the poor articulation group (Group A) were significantly different from those in the good articulation group (Group B) (P<0.05 or P<0.01). As compared with that in Group B, the vowel graph demonstrated the decreased perceptual distances in Group A. These findings indicated that there might still be the backward movements of tongue, perverted mandibular movements and disharmonious lip movements in addition to the velopharyngeal insufficiency (VPI) in Group A. Conclusion The speech articulation of children with repaired cleft palate should be gained by correcting the aberrant compensatory articulation errors in the condition of velopharyngeal competence. Computerized Speech Signal Processing System (CSSPS), which is regarded as the content of objective quantitative measurement, is a precise, simple, reliable and atroumatic technique for children with cleft palate to analyze pathological compensatory articulation errors.展开更多
<b><span>Introduction:</span></b><span> Cleft palate (CP) is a congenital dysmorphosis that results</span><span> from a failure of the palatal processes of the maxil...<b><span>Introduction:</span></b><span> Cleft palate (CP) is a congenital dysmorphosis that results</span><span> from a failure of the palatal processes of the maxillary buds and nasal septum to merge. The objectives of this study were to determine the frequency of complications of the modified Furlow technique and to evaluate its anatomical and functional outcomes.</span><span> </span><b><span>Materials and Method:</span></b><span> </span><span>This was a retrospective study that took place over a period of 4 years (from January 1</span><sup><span style="vertical-align:super;">st</span></sup><span>, 2015 to December 31</span><sup><span style="vertical-align:super;">th</span></sup><span>, 2018) in the Department of Odontostomatology and Maxillofacial Surgery at the National Hospital of Donka (Conakry, Guinea). Data retrieval consisted of records from patients operated on for cleft palate according to Furlow’s</span><span> </span><span>modified technique only. The operative technique consisted of marginal incisions of the cleft according to the technique of the double Z-plasty of Furlow. Subsequently, the defect created between the 2 flaps and the anterior edge of the cleft was filled by two fat masses of Bichat sutured to each other with Vicryl 3-0.</span><span> </span><span>Four years after surgery, the patients were recalled for an evaluation of the anatomical and functional results.</span><span> </span><b><span>Results:</span></b><span> 13 patients underwent surgical loading according to the modified Furlow technique. The average age of the patients was 6.9 years with an age range of 7 </span><span>months and 17 years. Females were the most affected, with 61.54% of cases</span><span> and a sex ratio of 0.62. The primary repair rate was 84.61% of cases. Immediate operative follow-up was simple with epithelialization of the flaps in all </span><span>patients. Four (4) years after the surgeries, 12 patients were reevaluated</span><span> (92.30%), among them one case (8.33%) of fistula complication was noted. The mobility of the veil and the phonation were good in 85.71% and 60% respectively. Ar</span><span>ticular disorders with nasonation were found in 2 patients (16.67%). Swallowing was normal in 85.72% of cases.</span><span> </span><b><span>Conclusion:</span></b><span> The modified Furlow technique is an important contribution to cleft palate surgery significantly</span><span> reducing the occurrence of postoperative complications. However, the delay </span><span>of the surgical operation remains a real obstacle for obtaining a normal </span><span>pho</span><span>nation.</span>展开更多
Background and purpose The prenatal diagnosis of cleft palate is an important component of sequential therapy,but the relevant diagnostic methods are still limited.We aimed here,to explore the possibility of an early ...Background and purpose The prenatal diagnosis of cleft palate is an important component of sequential therapy,but the relevant diagnostic methods are still limited.We aimed here,to explore the possibility of an early prenatal diagnosis of cleft palate by assessing metabolites in pregnant mice.Methods Twenty-four inseminated females were randomly divided into retinoic acid(RA)-treated(treated with retinoic acid at 10.5 gestation days)and control groups.The metabolites of the embryonic palatal tissue,maternal amniotic fluid,and serum were characterized using 9.4T magnetic resonance spectroscopy in vitro.Then,a predictive model was established through the principal component analysis(PCA),and the correlations between the metabolites of amniotic fluid and palatal tissue were explored using orthogonal-2 partial least squares(O2-PLS).Results The incidences of cleft palate were 100%and 0%in the RA-treated and control groups,respectively.A predictive PCA model with a high specificity and sensitivity was established for the early prenatal diagnosis of isolated cleft palate using amniotic fluid metabolic data.Between RA-treated and control mice,we found that two metabolites in the amniotic fluid and palatal tissue were correlated.Creatinine showed the same trend in the palatal tissue and amniotic fluid,while choline showed opposite trends in the two tissues.However,the data for serum metabolites could not be used to establish a prediction model.Conclusion This study indicates that assessing the metabolites of amniotic fluid is a potential approach for the prenatal diagnosis of isolated cleft palate.展开更多
Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the uppe...Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the upper lip, the alveolar bone and the palate. The incidence in Africa ranges from 1/2000 to 1/500 births. Their multidisciplinary management is long and costly. Thus, the help provided by humanitarian organisations during free care campaigns is welcome. Materials and Methods: This is a retrospective descriptive study conducted from August 2014 to July 2016 in the Maxillofacial Surgery and Stomatology Department of the Treichville University Hospital in Abidjan, Côte d’Ivoire. The objective was to describe the epidemiological, clinical and therapeutic aspects of CLPA during a humanitarian campaign for free care. Results: 51 cases of CLPA were operated on. Males were involved in 54.9% of the cases, i.e. a sex ratio of 1.2. The average age of the patients at the time of the operation was 3.44 years with extremes of 3 months and 52 years. Patients with low socioeconomic status represented 84.3% of the cases. Cleft lips (31.4%) and cleft palates (33.33%) predominated. For cleft lips, unilateral forms were the most frequent (73.5%) and the left side was most often affected (59.2%). The most common surgical techniques used were MILLARD cheiloplasty for cleft lips (79.36%) and Dorrance pushback for cleft palates (78.05%). The postoperative course was simple in the majority of cases (80.47%). Patients and/or parents were satisfied with the postoperative results in over 90% of cases. Discussion: Cleft lip and palate are common. Their management by humanitarian missions through mass campaigns allows us to receive a large number of patients affected by this pathology who are treated with a high satisfaction rate. Conclusion: The characteristics of cleft lip and palate in this study are in many respects identical to those described in the literature, but with some differences specific to Africa, notably the absence of antenatal diagnosis and the advanced age at the time of treatment.展开更多
Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s gr...Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s growth process, as well as the healing itself from the surgery. The present study aims to evaluate an alternative solution to secondary rhinology, aesthetic, and functional alterations to unilateral or bilateral cleft lift palate to minimize deformities and ensure good results. 11 patients were studied between 1995 to 2002, ten male and one female. In 8 cases, the patients had a history of cleft lip and palate on the left side, 2 patients with cleft lift palate on the right, and 1 patient with bilateral cleft lip and palate. 100% of the patients increased their naso-labial angle. This improved their appearance and structure, starting from a preoperative arithmetic mean of 39 degrees to a postoperative arithmetic mean of 96 degrees. Such intervention increased the naso-labial angle by 57 degrees. At the base of the nose, it was possible to improve the inclination of the alar line (line B) in 10 of the cases with a variation of 2 to 3 mm in relation to the perpendicular line A and only one case remained with the same inclination.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
<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I m...<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.展开更多
Purpose: To measure the upper airway changes associated with maxillary distraction osteogenesis in cleft lip and palate patients in the immediate post operative period and 12 months later. Materials and Methods: Seven...Purpose: To measure the upper airway changes associated with maxillary distraction osteogenesis in cleft lip and palate patients in the immediate post operative period and 12 months later. Materials and Methods: Seven patients with repaired cleft lip and palate (CLP) presented with severe maxillary hypoplasia. They were examined initially at T1 predistraction phase. Records taken included radiographs (orthopantograms OPG, lateral cephalometric, posteroanterior). Cephalometric analysis was done to evaluate the upper airway. Mean age is 17 years and the reverse overjet > 6 mm. They underwent maxillary Le Fort I distraction using external rigid distracters (RED). Cephalometric analysis to evaluate the upper airway was repeated at the end of the consolidation phase T2 and twelve months after distractor removal T3. Results: The range of maxillary advancement was between 8 - 15 mm (mean 9 mm). The anteroposterior distance of the superior velopharynx (PPS) and middle velopharynx (SPPS) increased at T2. A small amount of reduction in these values was recorded at T3. The inferior velopharynx (MPS) and the oropharynx (IPS, EPS) showed minimum increase in anteroposterior distance in only two patients at T2 and no change at T3. Conclusion: All seven patients showed clinical improvement in the upper airway and an increase in the upper airway values on lateral cephalometric radiographs.展开更多
Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Cleft...Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Clefts (OFCs) are among the causes of perinatal death in Ghana. The children often experience difficulties in swallowing, feeding, and speaking. These children often face problems in cognition, education, and communication. Caregivers’ ignorance of treatment, poverty, and noncompliance with follow-up schedules are obstacles to optimal cleft care. Most studies focus on the incidence of cleft, but not much is known about caregivers’ expectations. Methodology: An exploratory qualitative study design was used for this research between October and November 2020. The study site was the Komfo Anokye Teaching Hospital, (KATH), Kumasi, Ghana. The respondents were recruited from the oral health clinic. Included in the study were all CLP caregivers attending the cleft clinic for the first time. Purposive sampling was used to select fifteen caregivers who met the inclusion criteria. Face-to-face interviews with a semi-structured interview guide were used to collect data. The data were analyzed using NVivo software. Three major themes and six sub-themes emerged from the data analysis using thematic analysis. Ethical clearance was obtained for data collection. Results: Most caregivers were expecting their babies to be operated on, and they were certain that the cleft would be repaired at the end of the treatment, but they were unfamiliar with the process and cost of treatment. Less than half of the caregivers reported that they were oblivious to what to expect the first time visiting but had hopes that the healthcare professionals would be able to close the cleft for their babies. Conclusion: The majority of the caregivers expressed fear and disappointment at the diagnosis of their child. Some caregivers were very scared to the level where they had to hide the babies from the public. Others reported being already in financial difficulties, so their children’s conditions would compound them.展开更多
Objective To study three - dimensional finite element analysis for external midface distraction after different osteotomy in patients with cleft lip and palate ( Clp) . Methods Three - dimensional Fem models of Le Fo...Objective To study three - dimensional finite element analysis for external midface distraction after different osteotomy in patients with cleft lip and palate ( Clp) . Methods Three - dimensional Fem models of Le Fort Ⅰ,Ⅱand Ⅲ,osteotomy in Clp patients were estabolished. External midface distraction were simulated. An anteriorly and inferiorly directed 900 g force was展开更多
Congenital palate perforation is extremely rare.There is controversy about its exact etiology and appropriate management.Here,a case of congenital palatal perforation is reported.The diagnosis and treatment of the dis...Congenital palate perforation is extremely rare.There is controversy about its exact etiology and appropriate management.Here,a case of congenital palatal perforation is reported.The diagnosis and treatment of the disease are summarized.CASE SUMMARY A full-term neonate boy was referred for oral and craniomaxillofacial surgery with a finding of a hole in the palate at birth.The operation was postponed after pediatric consultation because of the patient’s poor nutrition and underweight for his age.At the age of 10 mo,the patient underwent modified von Langenbeck palatoplasty.He was followed for four years after surgery without any signs of re-rupture.His speech was satisfactory.CONCLUSION Considering the anatomy and etiology,congenital palate perforation can be classified as isolated or associated with submucous cleft palate,and the treatment procedure should be altered accordingly.展开更多
<strong>Background:</strong> <span style="font-family:""><span style="font-family:Verdana;">Cleft alveolus closure is a challenge for </span><span style="...<strong>Background:</strong> <span style="font-family:""><span style="font-family:Verdana;">Cleft alveolus closure is a challenge for </span><span style="font-family:Verdana;">cleft</span> <span style="font-family:Verdana;">surgeon</span><span style="font-family:Verdana;"> for many decades. Secondary alveolar bone grafting (SABG) is the preferred technique using autologous cancellous </span><span style="font-family:Verdana;">ileac</span><span style="font-family:Verdana;"> crest bone as the donor graft. Many alternative methods were tried over the years with no</span></span><span style="font-family:Verdana;"> <span style="font-family:Verdana;">any</span></span><span style="font-family:""><span style="font-family:Verdana;"> promising results. Gingivoperiosteoplasty (GPP) is a good alternative surgical technique for bone regeneration in cleft alveolus with proper case selection criteria. </span><b><span style="font-family:Verdana;">Aim:</span></b><span style="font-family:Verdana;"> Aim of the study was to evaluate the bone regeneration following </span><span style="font-family:Verdana;">closure</span><span style="font-family:Verdana;"> of cleft alveolus with </span><span style="font-family:Verdana;">gingivoperiosteoplasty</span><span style="font-family:Verdana;">. </span><b><span style="font-family:Verdana;">Method: </span></b><span style="font-family:Verdana;">This study was carried out in the department of Oral and Maxillofacial Surgery, Yenepoya Dental College, Deralakatte, Mangalore, Karnataka, India, from March 2018 to July 2019. In this </span><span style="font-family:Verdana;">study</span></span><span style="font-family:Verdana;">,</span><span style="font-family:""><span style="font-family:Verdana;"> we have performed </span><span style="font-family:Verdana;">gingivoperiosteoplasty</span><span style="font-family:Verdana;"> with palatoplasty and evaluated the amount of bone formation in the cleft alveolus using a series of </span><span style="font-family:Verdana;">intra oral</span><span style="font-family:Verdana;"> periapical radiographs. Five patients who required surgical repair of unilateral cleft palate and alveolus were selected for the study. </span><span style="font-family:Verdana;">Clinical</span><span style="font-family:Verdana;"> and radiographical assessment was done </span><span style="font-family:Verdana;">post operatively</span><span style="font-family:Verdana;">, after three and six months respectively for anatomical function and bone formation. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> After completion of clinical studies on patients</span></span><span style="font-family:Verdana;">,</span><span style="font-family:""><span style="font-family:Verdana;"> the statistical analysis of the data obtained. Radiographs were </span><span style="font-family:Verdana;">analy</span></span><span style="font-family:Verdana;">z</span><span style="font-family:Verdana;">ed</span><span style="font-family:""><span style="font-family:Verdana;"> for </span><span style="font-family:Verdana;">grey scale</span><span style="font-family:Verdana;"> density </span><span style="font-family:Verdana;">by means of</span><span style="font-family:Verdana;"> adobe </span><span style="font-family:Verdana;">photo shop</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">using</span><span style="font-family:""><span style="font-family:Verdana;"> the MATLAB process by histogram </span><span style="font-family:Verdana;">comparison</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">in</span><span style="font-family:""><span style="font-family:Verdana;"> three months and six months, </span><a name="_Hlk58658647"></a><span style="font-family:Verdana;">showing denser </span><span style="font-family:Verdana;">grey scale</span><span style="font-family:Verdana;"> pattern, indicating the new bone formation in the cleft alveolus surgical site, in all the 5 surgical cases. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">Gingivoperiosteoplasty (GPP) is a good alternative procedure </span><span style="font-family:Verdana;">to</span><span style="font-family:Verdana;"> secondary alveolar bone grafting (SABG), so donor site morbidity can be avoided with reduced time and cost for the surgery. But a larger sample size and longer follow-up </span></span><span style="font-family:Verdana;">are</span><span style="font-family:""><span style="font-family:Verdana;"> necessary to understand the better reliability of this surgical technique. </span><b><span style="font-family:Verdana;">Clinical Significance: </span></b><span style="font-family:Verdana;">Gingivoperiosteoplasty in cleft alveolus patients showed significant bone formation in 3 to 6 months postoperatively.</span></span>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
Cleft surgery requires an expert team performing ongoing treatment in order to achieve optimal outcomes. The senior author's(KES) experiences of more than 2000 patients with cleft lip and palate treated by a surgi...Cleft surgery requires an expert team performing ongoing treatment in order to achieve optimal outcomes. The senior author's(KES) experiences of more than 2000 patients with cleft lip and palate treated by a surgical-orthodontic protocol were introduced. The paper here will concentrate on not only correcting the occlusion as others have described,but also on what one surgeon can do to achieve optimal aesthetic balance, harmony and beauty. The results of orthognathic surgery in respect to function, stability, cosmesis, and complications are also audited.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
Background: When a disease is associated with stigma, there may be attendant negative consequences. Purpose: This review was to show how stigma-associated diseases impact negatively on the psychological and social wel...Background: When a disease is associated with stigma, there may be attendant negative consequences. Purpose: This review was to show how stigma-associated diseases impact negatively on the psychological and social wellbeing of the affected persons. Methods: The relevant articles for the review were obtained through PubMed and Google Scholar search on the internet using relevant keywords. Results: Several infectious and non-infectious diseases are associated with stigma. The causes of stigma in these diseases include fear of contracting the disease and dying from it, disfiguring caused by the disease and ignorance and misconception concerning the cause, nature and infectivity of the disease. Those suffering from stigma-associated diseases are usually discriminated against and denied the privileges and opportunities available for those not suffering from stigma-associated diseases. This often leads to psychosocial or psychiatric complications such as social isolation, depression or even suicidal ideation. Conclusions: Stigma-associated diseases still remain a very important health problem with attendant psychosocial consequences. Multi-disciplinary and multi-level efforts are required for its effective mitigation.展开更多
Objective: The aim of this study was to investigate the importance of the clinical experience on the reliability of the GOSLON Yardstick. Design: Comparative-measures study. Material: 3D images of the study models of ...Objective: The aim of this study was to investigate the importance of the clinical experience on the reliability of the GOSLON Yardstick. Design: Comparative-measures study. Material: 3D images of the study models of children with complete unilateral cleft lip and palate (n: 119) at an average age of 9 years were included to the study. All subjects had their cleft lip and palate repaired in many hospitals by different surgeons, but no alveolar graft or any orthodontic treatment was performed. Method: Digital views of the models were used by Orthomodel software program. 3D images of the study models were scored by two groups of raters (Group I: 10 experienced orthodontists, Group II: 10 post-graduate orthodontic stu-dents) after careful perusal of published literature concerning GOSLON scoring and examining dental models samples. Main outcome measures: Statistics of intra- and inter-rater agreement. Results: Intra-rater agreement measurements of the two groups were high and high inter-rater agreement was also found between the two groups. Conclusion: Based on the results of this study clinical orthodontic experience does not affect significantly the reliability of the GOSLON Yardstick when all the raters trained before scoring.展开更多
Importance:Cleft lip and palate(CLP)is globally among the most common childhood malformations.This disorder impacts childhood development,including speech and language,and affects children worldwide.Objective:To analy...Importance:Cleft lip and palate(CLP)is globally among the most common childhood malformations.This disorder impacts childhood development,including speech and language,and affects children worldwide.Objective:To analyze child development skills(adaptive fine motor,gross motor,personal-social,and language)in preschool children with isolated CLP compared with children without this malformation.Methods:The participants included an experimental group of 27 children with isolated CLP and a comparison group of 27 children without CLP aged between 48 and 59 months.The groups were evaluated using two instruments:the Denver Developmental Screening Test II(DDST-II)and the Avaliapao do Desenvolvimento da Linguagem(ADL-Language Development Assessment).Data were analyzed by descriptive and inductive analyses,using the Student’s Mest and the Mann-Whitney test,at a significance level of P<0.05.Results:All children in the comparison group performed within normal standards for their age range in the DDST-II and the ADL.The worst performance in the experimental group was observed in language skills,followed,in declining order,by adaptive fine motor,personal-social,and gross motor as measured by the DDST-II.Children with isolated CLP also performed poorly in receptive,expressive,and global language in the ADL.No statistically significant differences were observed in the experimental group’s scores for the ADL and the DDST-II.Interpretation:Developmental skill levels were below expectations for children of this age with isolated CLP.展开更多
Cleft lip and/or palate(CLP)are the most common craniofacial malformations in humans.Speech problems often persist even after cleft repair,such that follow-up articulation training is usually required.However,the neur...Cleft lip and/or palate(CLP)are the most common craniofacial malformations in humans.Speech problems often persist even after cleft repair,such that follow-up articulation training is usually required.However,the neural mechanism behind effective articulation training remains largely unknown.We used fMRI to investigate the differences in brain activation,functional connectivity,and effective connectivity across CLP patients with and without articulation training and matched normal participants.We found that training promoted task-related brain activation among the articulation-related brain networks,as well as the global attributes and nodal efficiency in the functional-connectivity-based graph of the network.Our results reveal the neural correlates of effective articulation training in CLP patients,and this could contribute to the future improvement of the post-repair articulation training program.展开更多
We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial s...We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial septal defect, and abnormal fusion of the medial ends of her ribs prior to their insertion into the sternum. She presented on account of respiratory difficulty following bouts of feed aspiration. Cautious feeding and the need for respiratory support are important aspects of care in patients with Goldenhar syndrome.展开更多
基金this work was supported by the Natural Science Foundation of Shaanxi Province (No98SM65)
文摘Objective To establish an acoustic perceptual method analyzing the compensatory articulation errors in children with operated cleft palate via the formants of Chinese pure vowels. Methods The first three formants which represent vocal transmission character in Chinese pure vowels of 84 subjects with operated cleft palate, were measured by Computerized Speech Signal Processing System (CSSPS). The Chinese vowel graph of postoperative patients with cleft palate was stated by the first formant frequencies (F1) and the second formant frequencies (F2) of the Chinese pure vowels between the two groups. Results Values of F1 and F2 of vowels except [a] in the poor articulation group (Group A) were significantly different from those in the good articulation group (Group B) (P<0.05 or P<0.01). As compared with that in Group B, the vowel graph demonstrated the decreased perceptual distances in Group A. These findings indicated that there might still be the backward movements of tongue, perverted mandibular movements and disharmonious lip movements in addition to the velopharyngeal insufficiency (VPI) in Group A. Conclusion The speech articulation of children with repaired cleft palate should be gained by correcting the aberrant compensatory articulation errors in the condition of velopharyngeal competence. Computerized Speech Signal Processing System (CSSPS), which is regarded as the content of objective quantitative measurement, is a precise, simple, reliable and atroumatic technique for children with cleft palate to analyze pathological compensatory articulation errors.
文摘<b><span>Introduction:</span></b><span> Cleft palate (CP) is a congenital dysmorphosis that results</span><span> from a failure of the palatal processes of the maxillary buds and nasal septum to merge. The objectives of this study were to determine the frequency of complications of the modified Furlow technique and to evaluate its anatomical and functional outcomes.</span><span> </span><b><span>Materials and Method:</span></b><span> </span><span>This was a retrospective study that took place over a period of 4 years (from January 1</span><sup><span style="vertical-align:super;">st</span></sup><span>, 2015 to December 31</span><sup><span style="vertical-align:super;">th</span></sup><span>, 2018) in the Department of Odontostomatology and Maxillofacial Surgery at the National Hospital of Donka (Conakry, Guinea). Data retrieval consisted of records from patients operated on for cleft palate according to Furlow’s</span><span> </span><span>modified technique only. The operative technique consisted of marginal incisions of the cleft according to the technique of the double Z-plasty of Furlow. Subsequently, the defect created between the 2 flaps and the anterior edge of the cleft was filled by two fat masses of Bichat sutured to each other with Vicryl 3-0.</span><span> </span><span>Four years after surgery, the patients were recalled for an evaluation of the anatomical and functional results.</span><span> </span><b><span>Results:</span></b><span> 13 patients underwent surgical loading according to the modified Furlow technique. The average age of the patients was 6.9 years with an age range of 7 </span><span>months and 17 years. Females were the most affected, with 61.54% of cases</span><span> and a sex ratio of 0.62. The primary repair rate was 84.61% of cases. Immediate operative follow-up was simple with epithelialization of the flaps in all </span><span>patients. Four (4) years after the surgeries, 12 patients were reevaluated</span><span> (92.30%), among them one case (8.33%) of fistula complication was noted. The mobility of the veil and the phonation were good in 85.71% and 60% respectively. Ar</span><span>ticular disorders with nasonation were found in 2 patients (16.67%). Swallowing was normal in 85.72% of cases.</span><span> </span><b><span>Conclusion:</span></b><span> The modified Furlow technique is an important contribution to cleft palate surgery significantly</span><span> reducing the occurrence of postoperative complications. However, the delay </span><span>of the surgical operation remains a real obstacle for obtaining a normal </span><span>pho</span><span>nation.</span>
基金This study was funded by the Guangdong Basic and Applied Basic Research Foundation(2019A1515011857)the Guangdong Medical Research Foundation Project(A2019108,A2020099,A2020538)+4 种基金the Guangdong Science and Technology Innovation Strategy Special Fund(Vertical Collaborative Management Direction)Project([2018]157-45)the Guangdong Higher Education Teaching Reform Project(No.246),the Shantou University Chuangqiang Provincial Special Fund Construction Project(925-38230120)the Shantou University Special Support for In-school Research of the School of Arts(STURCS201813)and the Shantou Science and Technology Project([2019]10602)It was also supported by the Department of Education of Guangdong Province under the Top-tier University Development Scheme for Research and Control of Infectious Diseases and the grant for Key Disciplinary Project of Clinical Medicine under the Guangdong Highlevel University Development Program,and supported by 2020 Li Ka Shing Foundation Cross-Disciplinary Research Grant(2020LKSFG18B,2020LKSFG02E).
文摘Background and purpose The prenatal diagnosis of cleft palate is an important component of sequential therapy,but the relevant diagnostic methods are still limited.We aimed here,to explore the possibility of an early prenatal diagnosis of cleft palate by assessing metabolites in pregnant mice.Methods Twenty-four inseminated females were randomly divided into retinoic acid(RA)-treated(treated with retinoic acid at 10.5 gestation days)and control groups.The metabolites of the embryonic palatal tissue,maternal amniotic fluid,and serum were characterized using 9.4T magnetic resonance spectroscopy in vitro.Then,a predictive model was established through the principal component analysis(PCA),and the correlations between the metabolites of amniotic fluid and palatal tissue were explored using orthogonal-2 partial least squares(O2-PLS).Results The incidences of cleft palate were 100%and 0%in the RA-treated and control groups,respectively.A predictive PCA model with a high specificity and sensitivity was established for the early prenatal diagnosis of isolated cleft palate using amniotic fluid metabolic data.Between RA-treated and control mice,we found that two metabolites in the amniotic fluid and palatal tissue were correlated.Creatinine showed the same trend in the palatal tissue and amniotic fluid,while choline showed opposite trends in the two tissues.However,the data for serum metabolites could not be used to establish a prediction model.Conclusion This study indicates that assessing the metabolites of amniotic fluid is a potential approach for the prenatal diagnosis of isolated cleft palate.
文摘Introduction: Cleft lip, palate and alveolar (CLPA) are congenital malformations of the face due to a defect in the fusion of embryonic buds during the first weeks of embryogenesis. These malformations affect the upper lip, the alveolar bone and the palate. The incidence in Africa ranges from 1/2000 to 1/500 births. Their multidisciplinary management is long and costly. Thus, the help provided by humanitarian organisations during free care campaigns is welcome. Materials and Methods: This is a retrospective descriptive study conducted from August 2014 to July 2016 in the Maxillofacial Surgery and Stomatology Department of the Treichville University Hospital in Abidjan, Côte d’Ivoire. The objective was to describe the epidemiological, clinical and therapeutic aspects of CLPA during a humanitarian campaign for free care. Results: 51 cases of CLPA were operated on. Males were involved in 54.9% of the cases, i.e. a sex ratio of 1.2. The average age of the patients at the time of the operation was 3.44 years with extremes of 3 months and 52 years. Patients with low socioeconomic status represented 84.3% of the cases. Cleft lips (31.4%) and cleft palates (33.33%) predominated. For cleft lips, unilateral forms were the most frequent (73.5%) and the left side was most often affected (59.2%). The most common surgical techniques used were MILLARD cheiloplasty for cleft lips (79.36%) and Dorrance pushback for cleft palates (78.05%). The postoperative course was simple in the majority of cases (80.47%). Patients and/or parents were satisfied with the postoperative results in over 90% of cases. Discussion: Cleft lip and palate are common. Their management by humanitarian missions through mass campaigns allows us to receive a large number of patients affected by this pathology who are treated with a high satisfaction rate. Conclusion: The characteristics of cleft lip and palate in this study are in many respects identical to those described in the literature, but with some differences specific to Africa, notably the absence of antenatal diagnosis and the advanced age at the time of treatment.
文摘Various surgical techniques and approaches have been described to repair cleft nose deformities. It is necessary to consider that since it is a congenital deformity, surgical management must consider the patient’s growth process, as well as the healing itself from the surgery. The present study aims to evaluate an alternative solution to secondary rhinology, aesthetic, and functional alterations to unilateral or bilateral cleft lift palate to minimize deformities and ensure good results. 11 patients were studied between 1995 to 2002, ten male and one female. In 8 cases, the patients had a history of cleft lip and palate on the left side, 2 patients with cleft lift palate on the right, and 1 patient with bilateral cleft lip and palate. 100% of the patients increased their naso-labial angle. This improved their appearance and structure, starting from a preoperative arithmetic mean of 39 degrees to a postoperative arithmetic mean of 96 degrees. Such intervention increased the naso-labial angle by 57 degrees. At the base of the nose, it was possible to improve the inclination of the alar line (line B) in 10 of the cases with a variation of 2 to 3 mm in relation to the perpendicular line A and only one case remained with the same inclination.
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<strong>Objective:</strong> To compare the congenital tooth deficiencies seen in permanent dentition in individuals with unilateral cleft lip and palate (UCLP) to non-cleft individuals with Angle Class I malocclusion. <strong>Method:</strong> The study was performed on orthopantomograph films of 50 individuals with UCLP aged between 12 - 16 years and 50 individuals with Angle Class I malocclusion individuals aged between 13 - 15 years. Individuals with UCLP;32 clefts were on the left side and 18 clefts were on the right side. Permanent third molar teeth deficiency was excluded from the study. <strong>Results: </strong>In 50 individuals with UCLP;35 (70%) upper lateral incisors were congenitally deficient in the cleft area, while 15 (30%) missing lateral teeth were found in the non-cleft side. In control group, 12 (24%) of 50 patients had congenital lateral incisor deficiency. Congenital deficiency of upper lateral incisor in UCLP;the cleft area was higher than the non-cleft side (p < 0.01). The difference was statistically important when compared with the control group (p < 0.001). In 50 individuals with UCLP;while 27 (54%) of second premolar teeth were congenitally deficient in cleft side, 23 (46%) were missing in non-cleft side. In control group, 18 (36%) congenital second premolar deficiency was detected. However, second premolar congenital deficiency was higher in UCLP group when compared to control group (p < 0.01). <strong>Conclusion:</strong> The deficiency of the lateral incisors in the cleft side is more often congenitally deficient than upper second premolar teeth and this should be considered in the treatment planning from an early age.
文摘Purpose: To measure the upper airway changes associated with maxillary distraction osteogenesis in cleft lip and palate patients in the immediate post operative period and 12 months later. Materials and Methods: Seven patients with repaired cleft lip and palate (CLP) presented with severe maxillary hypoplasia. They were examined initially at T1 predistraction phase. Records taken included radiographs (orthopantograms OPG, lateral cephalometric, posteroanterior). Cephalometric analysis was done to evaluate the upper airway. Mean age is 17 years and the reverse overjet > 6 mm. They underwent maxillary Le Fort I distraction using external rigid distracters (RED). Cephalometric analysis to evaluate the upper airway was repeated at the end of the consolidation phase T2 and twelve months after distractor removal T3. Results: The range of maxillary advancement was between 8 - 15 mm (mean 9 mm). The anteroposterior distance of the superior velopharynx (PPS) and middle velopharynx (SPPS) increased at T2. A small amount of reduction in these values was recorded at T3. The inferior velopharynx (MPS) and the oropharynx (IPS, EPS) showed minimum increase in anteroposterior distance in only two patients at T2 and no change at T3. Conclusion: All seven patients showed clinical improvement in the upper airway and an increase in the upper airway values on lateral cephalometric radiographs.
文摘Background: Cleft lip and palate (CLP) is one of the most prevalent congenital malformations affecting the face worldwide, with high prevalence in Asians, Americans, and Caucasians and low in Africans. Orofacial Clefts (OFCs) are among the causes of perinatal death in Ghana. The children often experience difficulties in swallowing, feeding, and speaking. These children often face problems in cognition, education, and communication. Caregivers’ ignorance of treatment, poverty, and noncompliance with follow-up schedules are obstacles to optimal cleft care. Most studies focus on the incidence of cleft, but not much is known about caregivers’ expectations. Methodology: An exploratory qualitative study design was used for this research between October and November 2020. The study site was the Komfo Anokye Teaching Hospital, (KATH), Kumasi, Ghana. The respondents were recruited from the oral health clinic. Included in the study were all CLP caregivers attending the cleft clinic for the first time. Purposive sampling was used to select fifteen caregivers who met the inclusion criteria. Face-to-face interviews with a semi-structured interview guide were used to collect data. The data were analyzed using NVivo software. Three major themes and six sub-themes emerged from the data analysis using thematic analysis. Ethical clearance was obtained for data collection. Results: Most caregivers were expecting their babies to be operated on, and they were certain that the cleft would be repaired at the end of the treatment, but they were unfamiliar with the process and cost of treatment. Less than half of the caregivers reported that they were oblivious to what to expect the first time visiting but had hopes that the healthcare professionals would be able to close the cleft for their babies. Conclusion: The majority of the caregivers expressed fear and disappointment at the diagnosis of their child. Some caregivers were very scared to the level where they had to hide the babies from the public. Others reported being already in financial difficulties, so their children’s conditions would compound them.
文摘Objective To study three - dimensional finite element analysis for external midface distraction after different osteotomy in patients with cleft lip and palate ( Clp) . Methods Three - dimensional Fem models of Le Fort Ⅰ,Ⅱand Ⅲ,osteotomy in Clp patients were estabolished. External midface distraction were simulated. An anteriorly and inferiorly directed 900 g force was
基金Supported by Shanghai Science and Technology Commission Project,No.17410710500,No.19441906000,No.YG2015MS02,No.PW2016E-1,and No.JYJX03201810
文摘Congenital palate perforation is extremely rare.There is controversy about its exact etiology and appropriate management.Here,a case of congenital palatal perforation is reported.The diagnosis and treatment of the disease are summarized.CASE SUMMARY A full-term neonate boy was referred for oral and craniomaxillofacial surgery with a finding of a hole in the palate at birth.The operation was postponed after pediatric consultation because of the patient’s poor nutrition and underweight for his age.At the age of 10 mo,the patient underwent modified von Langenbeck palatoplasty.He was followed for four years after surgery without any signs of re-rupture.His speech was satisfactory.CONCLUSION Considering the anatomy and etiology,congenital palate perforation can be classified as isolated or associated with submucous cleft palate,and the treatment procedure should be altered accordingly.
文摘<strong>Background:</strong> <span style="font-family:""><span style="font-family:Verdana;">Cleft alveolus closure is a challenge for </span><span style="font-family:Verdana;">cleft</span> <span style="font-family:Verdana;">surgeon</span><span style="font-family:Verdana;"> for many decades. Secondary alveolar bone grafting (SABG) is the preferred technique using autologous cancellous </span><span style="font-family:Verdana;">ileac</span><span style="font-family:Verdana;"> crest bone as the donor graft. Many alternative methods were tried over the years with no</span></span><span style="font-family:Verdana;"> <span style="font-family:Verdana;">any</span></span><span style="font-family:""><span style="font-family:Verdana;"> promising results. Gingivoperiosteoplasty (GPP) is a good alternative surgical technique for bone regeneration in cleft alveolus with proper case selection criteria. </span><b><span style="font-family:Verdana;">Aim:</span></b><span style="font-family:Verdana;"> Aim of the study was to evaluate the bone regeneration following </span><span style="font-family:Verdana;">closure</span><span style="font-family:Verdana;"> of cleft alveolus with </span><span style="font-family:Verdana;">gingivoperiosteoplasty</span><span style="font-family:Verdana;">. </span><b><span style="font-family:Verdana;">Method: </span></b><span style="font-family:Verdana;">This study was carried out in the department of Oral and Maxillofacial Surgery, Yenepoya Dental College, Deralakatte, Mangalore, Karnataka, India, from March 2018 to July 2019. In this </span><span style="font-family:Verdana;">study</span></span><span style="font-family:Verdana;">,</span><span style="font-family:""><span style="font-family:Verdana;"> we have performed </span><span style="font-family:Verdana;">gingivoperiosteoplasty</span><span style="font-family:Verdana;"> with palatoplasty and evaluated the amount of bone formation in the cleft alveolus using a series of </span><span style="font-family:Verdana;">intra oral</span><span style="font-family:Verdana;"> periapical radiographs. Five patients who required surgical repair of unilateral cleft palate and alveolus were selected for the study. </span><span style="font-family:Verdana;">Clinical</span><span style="font-family:Verdana;"> and radiographical assessment was done </span><span style="font-family:Verdana;">post operatively</span><span style="font-family:Verdana;">, after three and six months respectively for anatomical function and bone formation. </span><b><span style="font-family:Verdana;">Results:</span></b><span style="font-family:Verdana;"> After completion of clinical studies on patients</span></span><span style="font-family:Verdana;">,</span><span style="font-family:""><span style="font-family:Verdana;"> the statistical analysis of the data obtained. Radiographs were </span><span style="font-family:Verdana;">analy</span></span><span style="font-family:Verdana;">z</span><span style="font-family:Verdana;">ed</span><span style="font-family:""><span style="font-family:Verdana;"> for </span><span style="font-family:Verdana;">grey scale</span><span style="font-family:Verdana;"> density </span><span style="font-family:Verdana;">by means of</span><span style="font-family:Verdana;"> adobe </span><span style="font-family:Verdana;">photo shop</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">using</span><span style="font-family:""><span style="font-family:Verdana;"> the MATLAB process by histogram </span><span style="font-family:Verdana;">comparison</span></span><span style="font-family:""> </span><span style="font-family:Verdana;">in</span><span style="font-family:""><span style="font-family:Verdana;"> three months and six months, </span><a name="_Hlk58658647"></a><span style="font-family:Verdana;">showing denser </span><span style="font-family:Verdana;">grey scale</span><span style="font-family:Verdana;"> pattern, indicating the new bone formation in the cleft alveolus surgical site, in all the 5 surgical cases. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">Gingivoperiosteoplasty (GPP) is a good alternative procedure </span><span style="font-family:Verdana;">to</span><span style="font-family:Verdana;"> secondary alveolar bone grafting (SABG), so donor site morbidity can be avoided with reduced time and cost for the surgery. But a larger sample size and longer follow-up </span></span><span style="font-family:Verdana;">are</span><span style="font-family:""><span style="font-family:Verdana;"> necessary to understand the better reliability of this surgical technique. </span><b><span style="font-family:Verdana;">Clinical Significance: </span></b><span style="font-family:Verdana;">Gingivoperiosteoplasty in cleft alveolus patients showed significant bone formation in 3 to 6 months postoperatively.</span></span>
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Cleft surgery requires an expert team performing ongoing treatment in order to achieve optimal outcomes. The senior author's(KES) experiences of more than 2000 patients with cleft lip and palate treated by a surgical-orthodontic protocol were introduced. The paper here will concentrate on not only correcting the occlusion as others have described,but also on what one surgeon can do to achieve optimal aesthetic balance, harmony and beauty. The results of orthognathic surgery in respect to function, stability, cosmesis, and complications are also audited.
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Background: When a disease is associated with stigma, there may be attendant negative consequences. Purpose: This review was to show how stigma-associated diseases impact negatively on the psychological and social wellbeing of the affected persons. Methods: The relevant articles for the review were obtained through PubMed and Google Scholar search on the internet using relevant keywords. Results: Several infectious and non-infectious diseases are associated with stigma. The causes of stigma in these diseases include fear of contracting the disease and dying from it, disfiguring caused by the disease and ignorance and misconception concerning the cause, nature and infectivity of the disease. Those suffering from stigma-associated diseases are usually discriminated against and denied the privileges and opportunities available for those not suffering from stigma-associated diseases. This often leads to psychosocial or psychiatric complications such as social isolation, depression or even suicidal ideation. Conclusions: Stigma-associated diseases still remain a very important health problem with attendant psychosocial consequences. Multi-disciplinary and multi-level efforts are required for its effective mitigation.
文摘Objective: The aim of this study was to investigate the importance of the clinical experience on the reliability of the GOSLON Yardstick. Design: Comparative-measures study. Material: 3D images of the study models of children with complete unilateral cleft lip and palate (n: 119) at an average age of 9 years were included to the study. All subjects had their cleft lip and palate repaired in many hospitals by different surgeons, but no alveolar graft or any orthodontic treatment was performed. Method: Digital views of the models were used by Orthomodel software program. 3D images of the study models were scored by two groups of raters (Group I: 10 experienced orthodontists, Group II: 10 post-graduate orthodontic stu-dents) after careful perusal of published literature concerning GOSLON scoring and examining dental models samples. Main outcome measures: Statistics of intra- and inter-rater agreement. Results: Intra-rater agreement measurements of the two groups were high and high inter-rater agreement was also found between the two groups. Conclusion: Based on the results of this study clinical orthodontic experience does not affect significantly the reliability of the GOSLON Yardstick when all the raters trained before scoring.
文摘Importance:Cleft lip and palate(CLP)is globally among the most common childhood malformations.This disorder impacts childhood development,including speech and language,and affects children worldwide.Objective:To analyze child development skills(adaptive fine motor,gross motor,personal-social,and language)in preschool children with isolated CLP compared with children without this malformation.Methods:The participants included an experimental group of 27 children with isolated CLP and a comparison group of 27 children without CLP aged between 48 and 59 months.The groups were evaluated using two instruments:the Denver Developmental Screening Test II(DDST-II)and the Avaliapao do Desenvolvimento da Linguagem(ADL-Language Development Assessment).Data were analyzed by descriptive and inductive analyses,using the Student’s Mest and the Mann-Whitney test,at a significance level of P<0.05.Results:All children in the comparison group performed within normal standards for their age range in the DDST-II and the ADL.The worst performance in the experimental group was observed in language skills,followed,in declining order,by adaptive fine motor,personal-social,and gross motor as measured by the DDST-II.Children with isolated CLP also performed poorly in receptive,expressive,and global language in the ADL.No statistically significant differences were observed in the experimental group’s scores for the ADL and the DDST-II.Interpretation:Developmental skill levels were below expectations for children of this age with isolated CLP.
基金We are grateful to all the patients and healthy controls for their generous participation in this study.This work was supported by grants from the National Natural Science Foundation of China(81771909,61701323,and 62171300)the Discipline Construction Foundation of Beijing Stomatological Hospital(19-09-24)+1 种基金the Capital Medical University Research and Development Fund(PYZ19081)Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding Support(XML201714).
文摘Cleft lip and/or palate(CLP)are the most common craniofacial malformations in humans.Speech problems often persist even after cleft repair,such that follow-up articulation training is usually required.However,the neural mechanism behind effective articulation training remains largely unknown.We used fMRI to investigate the differences in brain activation,functional connectivity,and effective connectivity across CLP patients with and without articulation training and matched normal participants.We found that training promoted task-related brain activation among the articulation-related brain networks,as well as the global attributes and nodal efficiency in the functional-connectivity-based graph of the network.Our results reveal the neural correlates of effective articulation training in CLP patients,and this could contribute to the future improvement of the post-repair articulation training program.
文摘We describe a female Nigerian infant of otherwise healthy parents with no prior history of congenital anomalies who was born with left-sided cleft lip and palate, left anophthalmia, malformed left auricle, an atrial septal defect, and abnormal fusion of the medial ends of her ribs prior to their insertion into the sternum. She presented on account of respiratory difficulty following bouts of feed aspiration. Cautious feeding and the need for respiratory support are important aspects of care in patients with Goldenhar syndrome.
