scholarly journals PAX7, PAX9 and RYK Expression in Cleft Affected Tissue

Medicina ◽  
2021 ◽  
Vol 57 (10) ◽  
pp. 1075
Author(s):  
Mārtiņš Vaivads ◽  
Ilze Akota ◽  
Māra Pilmane
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Rank Correlation ◽  
Control Group ◽  
Orofacial Clefts ◽  
Spearman’S Rank Correlation ◽  
Morphological Studies ◽  
Affected Tissue ◽  
Isolated Cleft Palate

Background and Objectives: Cleft lip with or without cleft palate is one of the most common types of congenital malformations. Transcription factors paired box 7 and 9 (PAX7, PAX9) and receptor-like tyrosine kinase (RYK) have been previously associated with the formation of orofacial clefts but their exact possible involvement and interactions in the tissue of specific cleft types remains uncertain. There is a limited number of morphological studies analyzing these specific factors in cleft affected tissue due to ethical aspects and the limited amount of available tissue material. This study analyses the presence of PAX7, PAX9, and RYK immunopositive structures within different cleft affected tissue to assess their possible involvement in cleft morphopathogenesis. Materials and Methods: Cleft affected tissue was collected from non-syndromic orofacial cleft patients during cleft correcting surgery (36 patients with unilateral cleft lip, 13 patients with bilateral cleft lip, 26 patients with isolated cleft palate). Control group oral cavity tissue was obtained from 7 patients without cleft lip and palate. To evaluate the number of immunopositive structures in the cleft affected tissue and the control group, a semiquantitative counting method was used. Non-parametric statistical methods (Kruskal–Wallis H test, Mann–Whitney U test, and Spearman’s rank correlation) were used. Results: Statistically significant differences for the number of PAX7, PAX9, and RYK-positive cells were notified between the controls and the patient groups. Multiple statistically significant correlations between the factors were found in each cleft affected tissue group. Conclusions: PAX7, PAX9, and RYK have a variable involvement and interaction in postnatal morphopathogenesis of orofacial clefts. PAX7 is more associated with the formation of unilateral cleft lip, while PAX9 relates more towards the isolated cleft palate. The stable presence of RYK in all cleft types indicates its possible participation in different facial cleft formations.

scholarly journals Cleft Candidate Genes and Their Products in Human Unilateral Cleft Lip Tissue

Diseases ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 26
Author(s):  
Mārtiņš Vaivads ◽  
Ilze Akota ◽  
Māra Pilmane
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
Strong Correlations ◽  
Control Groups ◽  
Morphological Studies ◽  
Affected Tissue ◽  
Pathological Material ◽  
And Control

Cleft lip and palate are common congenital pathologies that affect the human population worldwide. The formation of cleft lip is associated with multiple genes and their coded proteins, which regulate the development of craniofacial region, but the exact role of these factors is not always clear. The use of morphological studies for evaluation of human cleft-affected tissue has been limited because of insufficiency of available pathological material. The aim of this study was to detect and compare the immunohistochemical expression of cleft candidate gene coded proteins (DLX4, MSX2, HOXB3, SHH, PAX7, SOX3, WNT3A, and FOXE1) in the non-syndromic unilateral cleft lip patient tissue and control group tissue. A semiquantitative counting method was used to evaluate the tissue in biotin-streptavidin-stained slides. Statistically significant differences between the patient and control groups were found for the number of immunoreactive structures for SHH (p = 0.019) and FOXE1 (p = 0.011) in the connective tissue and SOX3 (p = 0.012) in the epithelium. Multiple statistically significant very strong and strong correlations were found between the immunoreactives in cleft-affected tissue. These significant differences and various correlations indicate that multiple morphopathogenetic pathways are possibly involved in unilateral cleft lip pathogenesis. Therefore, we further discuss these possible interactions.

Perceptual Speech Outcomes After Early Primary Palatal Repair in Ugandan Patients With Cleft Palate

2020 ◽  
pp. 105566562098024
Author(s):  
Kim Bettens ◽  
Laura Bruneel ◽  
Cassandra Alighieri ◽  
Daniel Sseremba ◽  
Duncan Musasizib ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Control Group ◽  
English Speaking ◽  
And Gender ◽  
Early Primary ◽  
Velopharyngeal Function ◽  
Normal Speech

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.

Morphological Presentation of Orofacial Clefts: An Epidemiological Study of 5004 Patients in a Tertiary Care Hospital of Central India

2021 ◽  
pp. 105566562110577
Author(s):  
Jaideep Singh Chauhan ◽  
Sarwpriya Sharma
Keyword(s):  
Cleft Palate ◽  
Epidemiological Study ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Central India ◽  
Care Hospital ◽  
Orofacial Clefts ◽  
Chi Square ◽  
The Right

Objective: To analyse the morphological presentation of orofacial clefts, gender, syndromes and systemic anomalies associated with them. Design: This was an epidemiological study performed in the patients who were registered for cleft lip and palate surgeries in our centre. The data was evaluated both retrospectively as well as prospectively. Patients/ Participants: The patients registered from November 2006 to April 2021 were studied. Out of 5276 patients, data of 5004 cases were analysed, rest 272 patients were excluded due to lack of information. Statistical analysis and Chi square test were applied. Results: Cleft deformities were more common in males than females. Cleft lip with palate was the commonest phenotype (52.2%). It was followed by isolated cleft lip (22.9%), isolated cleft palate (22.1%), rare clefts (1.62%) and syndromic clefts (1.18%). Unilateral variants were more frequent than bilateral. In unilateral, left side was more common than the right side. Among bilateral, most of the cases had premaxillary protrusion. In the present study, 3.46% of all the patients had associated anomalies affecting their other organs. Less common cleft phenotypes like microform cleft lip and submucous cleft palate ± bifid uvula showed frequency of 0.62% and 0.64% respectively. Conclusion: Thorough examination of cleft deformity should be done as it may appear as an isolated deformity or part of a syndrome and have associated systemic anomalies. This may help us to deliver comprehensive care to the patients and can prevent potential operative complications.

Surgical Repair of Orofacial Clefts in North Kivu Province of Eastern Democratic Republic of Congo (DRC)

2020 ◽  
Vol 57 (11) ◽  
pp. 1314-1319
Author(s):  
Luc Malemo Kalisya ◽  
Jacques Fadhili Bake ◽  
Bake Elisee ◽  
Kavira Nyavandu ◽  
Robert Perry ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Democratic Republic ◽  
Cleft Lip And Palate ◽  
Surgical Repair ◽  
Democratic Republic Of Congo ◽  
Orofacial Clefts ◽  
Republic Of Congo ◽  
General Surgeons ◽  
North Kivu

Background: There is a high prevalence of orofacial clefts in low- and middle-income countries with significant unmet need, despite having 50% of the population younger than 18 years in countries such as the Democratic Republic of Congo (DRC). The purpose of this article is to report on the experience of general surgeons with orofacial clefts at a single institution. Methods: This is a retrospective study of patients treated for cleft lip/palate in the province of North Kivu, DRC between 2008 and 2017. Results: A total of 1112 procedures (122/year) were performed. All procedures were performed by general surgeons following training by an international nongovernmental aid organization. A total of 59.2% of patients were male and the median age was 3.4 years (interquartile range: 0.7-13 years). Average distance from surgical center to patient location was 242.6 km (range: 2-1375 km) with outreach performed for distances >200 kms. A majority (82.1%) of patients received general anesthesia (GA) with significant differences in use of GA, age, weight, and length of stay by major orofacial cleft category. Of the 1112 patients, 86.1% were reported to have cleft lip alone, 10.5% had cleft lip and palate, and 3.4% cleft palate alone. Despite this, only 5.3% of patients underwent surgical repair of cleft palate. Conclusions: Multiple factors including malnutrition, risk of bleeding, procedural complexity, and cosmetic results may contribute to the distribution of procedures performed where most cleft palates are not treated. Based on previously published estimates, unmet needs and social burden of cleft lip and palate are high in the DRC.

Orthodontic-Surgical Approach for Treating Skeletal Class III Malocclusion With Severe Maxillary Deficiency in Isolated Cleft Palate

2018 ◽  
Vol 56 (3) ◽  
pp. 400-407 ◽  
Author(s):  
Kohei Nakatsugawa ◽  
Hiroshi Kurosaka ◽  
Kiyomi Mihara ◽  
Susumu Tanaka ◽  
Tomonao Aikawa ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Surgical Approach ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Class Iii ◽  
Maxillary Expansion ◽  
Rapid Palatal Expansion ◽  
Isolated Cleft Palate ◽  
Maxillary Deficiency

Orthodontic treatment in patients with orofacial cleft such as cleft lip and palate or isolated cleft palate is challenging, especially when the patients exhibit severe maxillary growth retardation. To correct this deficiency, maxillary expansion and protraction can be performed in the first phase of orthodontic treatment. However, in some cases, the malocclusion cannot be corrected by these procedures, and thus, skeletal discrepancy remains when the patients are adolescents. These remaining problems occasionally require various orthognathic treatments according to the degree of the discrepancy. Here, we describe one case of a female with isolated cleft palate and hand malformation who exhibited severe maxillary deficiency until her adolescence and was treated with multiple orthognathic surgeries, including surgically assisted maxillary expansion (surgically assisted rapid palatal expansion), LeFort I osteotomy, and bilateral sagittal split osteotomy in order to correct severe skeletal discrepancy and malocclusion. The treatment resulted in balanced facial appearance and mutually protected occlusion with good stability. The purpose of this case report is to show the orthodontic treatment outcome of 1 patient who exhibited isolated cleft palate and subsequent severe skeletal deformities and malocclusion which was treated by an orthodontic-surgical approach.

Objective, Noninvasive Evaluation of Velopharyngeal Function in Cleft and Noncleft Patients

1998 ◽  
Vol 35 (1) ◽  
pp. 35-39 ◽  
Author(s):  
Martin Kunkel ◽  
Ulrich Wahlmann ◽  
Wilfried Wagner
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Noninvasive Evaluation ◽  
Control Group ◽  
Pharyngeal Muscles ◽  
Pharyngeal Flap ◽  
The Difference ◽  
Acoustic Pharyngometry ◽  
Velopharyngeal Function

Objective The purpose of this study was to investigate a new diagnostic method that provides an approach to noninvasive, objective measurement of velopharyngeal movement by acoustic determination of epipharyngeal volume changes with velopharyngeal muscle function. Design This was a case control study, using consecutive samples. Setting This study took place at the Cleft Palate Rehabilitation Center of the University of Mainz, Germany. Patients Subjects were 29 consecutive cleft lip and palate (CLP) patients and 31 controls (21 patients with dysgnathia and 10 healthy volunteers). Intervention A series of transnasal acoustic measurements (pressure wave: 55 dB for 2 milliseconds) of epipharyngeal volume were performed with the pharyngeal muscles relaxed in end-expiration and while the velopharyngeal orifice was closed, with the difference in volume representing maximal pharyngeal movement. Results Cleft palate patients yielded significantly lower values of velopharyngeal movement (6.5 cm3) than did the control group (8.0 cm3)(p < .05; Mann-Whitney U test). Overlapping ranges of values were measured for the C(L)P and control groups. The least mobility (4.75 cm3) was measured in patients who had undergone pharyngeal flap surgery. Different patterns of restriction were observed in patients with and without a pharyngeal flap. Conclusion Acoustic pharyngometry may provide access to noninvasive quantitative measurement of velopharyngeal movement and a better understanding of the pattern of movement in C(L)P-patients. We expect it to be a helpful tool in objectively monitoring the progress of logopedic therapy.

Pattern of Cleft Lip and Palate in Hospital-Based Population in Saudi Arabia: Retrospective Study

2008 ◽  
Vol 45 (6) ◽  
pp. 592-596 ◽  
Author(s):  
Aziza Aljohar ◽  
Kandasamy Ravichandran ◽  
Shazia Subhani
Keyword(s):  
Saudi Arabia ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Tertiary Care ◽  
Positive Family History ◽  
Care Hospital ◽  
Associated Anomalies ◽  
Cleft Lip Palate ◽  
Isolated Cleft Palate

Objective: To report the patterns of cleft lip and/or cleft palate in Saudi Arabia from data collected at a tertiary care hospital. Design and Setting: King Faisal Specialist Hospital and Research Center, Riyadh. Patients: All the cleft lip and/or cleft palate patients registered in the Cleft Lip/Palate and Craniofacial Anomalies Registry from June 1999 to December 2005. Results: Retrospectively, 807 cases of cleft lip and/or palate were registered. There were 451 boys and 356 girls. Cleft lip and palate was more common (387) than isolated cleft palate (294) and isolated cleft lip (122). Boys predominated in cleft lip and palate and cleft lip; whereas, girls predominated in isolated cleft palate, with boy to girl ratios of 1.6:1, 1.2:1, and 0.9:1 for cleft lip and/or palate, isolated cleft lip, and isolated cleft palate, respectively. The Riyadh region had more cases (32.0%) than the Asir (15.6%) and Eastern (14.6%) regions. Parents of 439 individuals had consanguineous marriages. A positive family history of cleft was seen in 224 cases. Of 238 cases with associated anomalies, 91 had congenital heart disease. Of the children with isolated cleft palate, 40.5% had associated anomalies, whereas only 23.0% of the children with isolated cleft lip or cleft lip and palate had associated malformations. Conclusion: The pattern of cleft observed in this study does not differ significantly from those reported in the literature for Arab populations.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.

scholarly journals Cárie Dentária em Indivíduos com Fissuras Labiopalatinas: Revisão de Literatura

UNICIÊNCIAS ◽  
2021 ◽  
Vol 24 (1) ◽  
pp. 112-117
Author(s):  
Andreza Maria Fábio Aranha ◽  
Amanda Alves de Oliveira ◽  
Alexandre Meireles Borba ◽  
Luiz Evaristo Ricci Volpato
Keyword(s):  
Oral Health ◽  
Dental Caries ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Public Health Practice ◽  
Well Being ◽  
Individualized Approach ◽  
Genetic And Environmental Factors ◽  
Isolated Cleft Palate

As fissuras labiopalatinas (FLP) são as malformações congênitas mais comuns da região craniofacial e apresentam diferentes fenótipos e características clínicas, que diferem entre si de acordo com as estruturas anatômicas envolvidas: fissura de lábio, fissura de lábio e palato e fissura de palato isolada. A etiologia das FLP é multifatorial e inclui fatores genéticos e ambientais. O objetivo do presente estudo foi investigar o papel das fissuras labiopalatinas na prevalência de cárie dentária por meio de uma revisão na literatura. O defeito anatômico que envolve o rebordo alveolar e/ou o palato pode resultar em agenesias dentárias, dentes supranumerários, anomalias de forma e estrutura, bem como atresia maxilar, mordidas cruzadas posteriores e apinhamentos dentários. Também, a presença da FLP pode resultar aos indivíduos problemas durante alimentação, pronúncia de alguns fonemas, audição e integração social, o que poderia afetar a qualidade de vida do indivíduo e da dinâmica familiar. Quando a saúde bucal de crianças e adolescentes com FLP foi investigada, maior retenção do biofilme microbiano nas superfícies dentárias, de inflamação gengival e maior ocorrência de cárie dentária foram observados. Para um diagnóstico e tratamento adequados, é fundamental uma abordagem multidisciplinar, individualizada, para orientação e planejamento do tratamento dos indivíduos com a malformação, desde o nascimento até a fase adulta. O conhecimento dos efeitos da FLP na saúde bucal e no bem-estar dos indivíduos e das famílias afetadas é fundamental para mudanças nas políticas públicas das práticas de saúde e redução da sobrecarga da presença da malformação congênita.   Palavras-chave: Cárie Dentária. Fenda Labial. Fissura Palatina. Saúde Bucal   Abstract Cleft lip and palate (CLP) are the most common congenital malformations of the craniofacial region and they present different phenotypes and clinical characteristics, which differ according to the anatomical structures involved: cleft lip, cleft lip and palate and isolated cleft palate. The etiology of CLP is multifactorial and includes genetic and environmental factors. The aim of this study was to investigate the role of cleft lip and palate in the prevalence of dental caries through a literature review. The anatomical defect involving the alveolar ridge and / or the palate can result in dental agenesis, supernumerary teeth, anomalies in shape and structure, as well as maxillary atresia, posterior cross bites and dental crowding. Also, the presence of CLP can result in problems for individuals during feeding, pronunciation of some phonemes, hearing and social integration, which could affect the individual's quality of life and family dynamics. When the oral health of children and adolescents with CLP was investigated, greater retention of microbial biofilm on dental surfaces, gingival inflammation and the occurrence of dental caries were observed. For an adequate diagnosis and treatment, a multidisciplinary and individualized approach is essential to guide and plan the treatment of individuals with the malformation, from birth to adulthood. The knowledge of the effects of FLP on oral health and on the well-being of affected individuals and families is fundamental to changes in public health practice policies and to reduce the burden of the presence of the congenital malformation.   Keywords:  Cleft Lip. Cleft Palate. Dental Caries. Oral Health.

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