Cleft Palate-Craniofacial Journal最新文献

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Do Race and Socioeconomic Status Affect Date of Initial Presentation and Repair of Patients with Cleft lip ± Palate and Head Shape Conditions? 种族和社会经济地位是否会影响唇腭裂和头型问题患者的初次就诊和修复日期?
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2023-12-10 DOI: 10.1177/10556656231219417
Joshua P Weissman, Iulianna Taritsa, Narainsai K Reddy, Emily S Chwa, Anitesh Bajaj, Stuti Garg, Ian Erkkila, Arun K Gosain
{"title":"Do Race and Socioeconomic Status Affect Date of Initial Presentation and Repair of Patients with Cleft lip ± Palate and Head Shape Conditions?","authors":"Joshua P Weissman, Iulianna Taritsa, Narainsai K Reddy, Emily S Chwa, Anitesh Bajaj, Stuti Garg, Ian Erkkila, Arun K Gosain","doi":"10.1177/10556656231219417","DOIUrl":"10.1177/10556656231219417","url":null,"abstract":"<p><p>ObjectiveTo evaluate regarding the effect of race and socioeconomic status (SES) on the timing of cleft lip and/or palate (CL ± P), craniosynostosis, and plagiocephaly presentation to clinic and possible repair.Design/MethodsA retrospective review of patients with CL ± P and head shape conditions from Jan 2001 to Feb 2022 were included. Age at first plastic surgery clinic appointment, age at repair if applicable, gender, race, and zip code were collected. The Validated Child Opportunity Index (COI) scale was calculated based on zip code as a measure of SES. Kruskal-Wallis tests and Dunn's procedures were used for continuous variables and post hoc pairwise comparisons.Results2733 patients with CL ± P, 9974 with plagiocephaly/brachycephaly, and 59 patients with craniosynostosis were included. Among patients with CL ± P, Black and Hispanic patients presented significantly later to both first plastic surgery clinic appointment and age at repair than White patients (<i>P</i> < .001). White patients and higher SES were associated with a significantly earlier date of initial presentation to plastic surgery clinic for head shape conditions (<i>P</i> < .001).ConclusionsRace and SES may play an important role in the delay of first presentation to plastic surgery clinic and subsequent repair for these patient populations. Further educational efforts must be provided to ensure equitable care. This single institutional study may serve to encourage other academic centers to analyze the timing of care for our pediatric patients.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"653-658"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138811972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations. 三名颅骨裂隙发育不良患者的病例系列:临床表现和诊断考虑因素。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2024-02-27 DOI: 10.1177/10556656241234742
Uğur Berber, Ülkü Gül Şıraz, Mustafa Yakubi, Ebru Gök, Leyla Kara, Aslihan Kiraz, Munis Dündar, Nihal Hatipoglu
{"title":"A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.","authors":"Uğur Berber, Ülkü Gül Şıraz, Mustafa Yakubi, Ebru Gök, Leyla Kara, Aslihan Kiraz, Munis Dündar, Nihal Hatipoglu","doi":"10.1177/10556656241234742","DOIUrl":"10.1177/10556656241234742","url":null,"abstract":"<p><p>Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"715-719"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139984285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of Obstructive Sleep Apnoea in Craniofacial Microsomia Based on Polysomnography. 基于多导睡眠图的颅面小畸形患者阻塞性睡眠呼吸暂停分析
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2023-12-17 DOI: 10.1177/10556656231221654
Lun-Kun Ma, Zhi-Yong Zhang, Xiao-Jun Tang, Xi Xu, Shi Feng, Shan-Baga Zhao, Bing-Yang Liu, Tian-Ying Zang, Hong-Wen Li, Wei Liu
{"title":"Analysis of Obstructive Sleep Apnoea in Craniofacial Microsomia Based on Polysomnography.","authors":"Lun-Kun Ma, Zhi-Yong Zhang, Xiao-Jun Tang, Xi Xu, Shi Feng, Shan-Baga Zhao, Bing-Yang Liu, Tian-Ying Zang, Hong-Wen Li, Wei Liu","doi":"10.1177/10556656231221654","DOIUrl":"10.1177/10556656231221654","url":null,"abstract":"<p><p>ObjectiveThis study aimed to investigate the prevalence of obstructive sleep apnoea (OSA) in patients with craniofacial microsomia (CFM) through polysomnography (PSG) and the relationship with the severity of CFM.MethodsThis study reviewed patients of CFM with pre-operative PSG data between January 2005 and September 2023. Patients were grouped according to the Pruzansky-Kaban classification. OSA was diagnosed and severity was assessed by the obstructive apnea-hypopnea index. The Pediatric Sleep Questionnaire was used to investigate OSA-related signs and symptoms. The χ 2 test and Fisher's exact test were used to compare between groups. Univariate logistic regression was used to identify risk factors associated with OSA. A p-value less than 0.05 was considered statistically significant.ResultsA total of 121 patients with CFM were included in the study with 3 bilateral and 118 unilateral patients. In total, 86 patients (71.07%) were diagnosed with OSA. The prevalence of OSA in type IIa, type IIb and type III was 72.97%, 78.33%, and 47.62%. There was no statistically significant difference in the prevalence of OSA between type IIa and type IIb (<i>p</i> > .05). The difference in the prevalence of OSA between type III and type II was statistically significant (<i>p</i> < .05). Snoring was the most common symptom among the patients of CFM with OSA.ConclusionsPatients with CFM have a higher incidence of OSA based on PSG in type II and type III patients. The incidence of OSA did not correlate positively with the severity of CFM, with type III patients having certain particularities.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"568-573"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138811942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Application of the MicroNAPS Classification for Robin Sequence. 罗宾序列的 MicroNAPS 分类应用。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2024-02-01 DOI: 10.1177/10556656241229892
Cory M Resnick, Eliot Katz, Alistair Varidel
{"title":"Application of the MicroNAPS Classification for Robin Sequence.","authors":"Cory M Resnick, Eliot Katz, Alistair Varidel","doi":"10.1177/10556656241229892","DOIUrl":"10.1177/10556656241229892","url":null,"abstract":"<p><p>ObjectiveThe only findings consistent among infants with Robin sequence (RS) are the presence of micrognathia, glossoptosis, and upper airway obstruction (UAO). Feeding and growth dysfunction are typical. The etiopathogenesis of these findings, however, is highly variable, ranging from sporadic to syndromic causes, with widely disparate levels of severity. This heterogeneity has created inconsistency within RS literature and debate about appropriate workup and treatment. Despite several attempts at stratification, no system has been broadly adopted.DesignWe recently presented a novel classification that is summarized by the acronym <b>MicroNAPS</b>. Each of 5 elements is scored: <b><u>Micro</u></b>gnathia, <b><u>N</u></b>utrition, <b><u>A</u></b>irway, <b><u>P</u></b>alate, <b><u>S</u></b>yndrome/comorbidities, and element scores are summarized into a \"stage\".ResultsTesting of this system in a sample of 100 infants from our center found it to be clinically relevant and to predict important management decisions and outcomes.ConclusionsWe herein present an interactive website (www.prscalculator.com) and printable reference card for simple application of MicroNAPS, and we advocate for this classification system to be adopted for clinical care and research.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"710-714"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139673356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Quality of Life in Adolescents and Young Adults with Cleft Lip and Palate with and Without Speech Therapy During COVID-19. 在 COVID-19 期间接受和未接受言语治疗的唇腭裂青少年的生活质量。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2023-12-19 DOI: 10.1177/10556656231219413
Zahra Moshtaghi Fard, Samira Aghadoost, Negin Moradi, Sarvin Sarmadi, Farnoosh Mohammadi, Naghmeh Bahrami
{"title":"Quality of Life in Adolescents and Young Adults with Cleft Lip and Palate with and Without Speech Therapy During COVID-19.","authors":"Zahra Moshtaghi Fard, Samira Aghadoost, Negin Moradi, Sarvin Sarmadi, Farnoosh Mohammadi, Naghmeh Bahrami","doi":"10.1177/10556656231219413","DOIUrl":"10.1177/10556656231219413","url":null,"abstract":"<p><p>ObjectiveCleft-related speech concerns can affect the quality of life (QOL) in patients with cleft lip and palate (CLP). During the coronavirus disease 2019 (COVID-19), in-person speech therapy (ST) was restricted due to fear of getting infected. This study aimed to compare QOL in patients with CLP with and without ST during the pandemic.DesignCross-sectional StudySettingCLP team at Tehran University of Medical Sciences (TUMS).Patients/ParticipantsThirty-six CLP subjects with a mean age of 17.33 ± 4 years participated in two groups, including with and without ST. Fifteen subjects had cleft palate only (CPO) and others had CLP.InterventionsST group received at least 10 ST sessions, and group without ST didn't receive ST during COVID-19.Main Outcome Measure(s)A virtual link of demographic and QOL adolescent cleft (QoLAdoCleft) questionnaires were sent to fill out. Results were extracted and transferred to SPSS.ResultsTotal and subscales' scores of QoLAdoCleft were lower in ST group than without ST but differences between them weren't statistically significant (<i>P</i> > .05). Furthermore, according to cleft type, there weren't any statistically significant differences in total, physical, and social subscales of QoLAdoCleft (<i>P</i> > .05); however, psychological subscale in CLP had a higher significant score than CPO (<i>P</i> < .05).ConclusionsQOL was weak in all patients with CLP, and receiving/not receiving ST couldn't make noticeable differences between them. It seems; COVID-19 pandemic can have an adverse effect on these results. Also, subjects with CLP had weaker psychological than CPO due to negative psychosocial feedback related to Orofacial deformities received from society.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"665-675"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138811982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of Cheiloplasty and Palatoplasty on the Quality of Life of Children With Cleft Lip and Palate. 咀嚼成形术和腭裂成形术对唇腭裂儿童生活质量的影响。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 DOI: 10.1177/10556656251328089
Gabriela Bohneberger, Natasha Magro Ernica
{"title":"Impact of Cheiloplasty and Palatoplasty on the Quality of Life of Children With Cleft Lip and Palate.","authors":"Gabriela Bohneberger, Natasha Magro Ernica","doi":"10.1177/10556656251328089","DOIUrl":"https://doi.org/10.1177/10556656251328089","url":null,"abstract":"<p><p><i>Objective</i>To assess the quality of life of parents of patients with cleft lip and/or palate (CL/P) undergoing cheiloplasty or palatoplasty in the pre and/or postoperative periods.<i>Design</i>This is a mixed method study. The sample consisted of parents/guardians of non-syndromic patients with CL/P undergoing treatment in the University Hospital of Western Paraná in Brazil. Data were collected from February 2022 to December 2023 and included demographic information, the Impact on Family Scale (33 items) to assess quality of life, and semi-structured interviews, followed by content analysis.<i>Results</i>Caregivers' (N = 116) quality of life was generally in the middle to high range and similar across pre and postoperative time points. The most frequent topics identified in interviews were financial difficulties, time required for childcare, esthetic concerns, feeding, phonation, and integration of children into social environments with improvements reported after surgeries.<i>Conclusion</i>Quality of life of caregivers was similar across pre and postoperative periods and content analysis highlighted improvements in psychosocial and functional aspects. Early follow-up with specialized services is recommended to improve the quality of life of caregivers of children with CL/P.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251328089"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Oral Cleft and Maternal History of Spontaneous Abortion: A Case-Control Study. 唇裂与产妇自然流产史:一项病例-对照研究。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2023-11-15 DOI: 10.1177/10556656231213726
Maria Carolina de Moraes Pereira, Carolina Maia Silva, Thaís Bernardes de Queiroz, Lucimara Teixeira das Neves
{"title":"Oral Cleft and Maternal History of Spontaneous Abortion: A Case-Control Study.","authors":"Maria Carolina de Moraes Pereira, Carolina Maia Silva, Thaís Bernardes de Queiroz, Lucimara Teixeira das Neves","doi":"10.1177/10556656231213726","DOIUrl":"10.1177/10556656231213726","url":null,"abstract":"<p><p><i>Objective</i>To investigate and compare the occurrence of previous spontaneous abortion among mothers of children with nonsyndromic oral clefts (NSOC) and mothers of children without NSOC; to understand if previous spontaneous abortion could be a risk factor for the occurrence of NSOC in subsequent pregnancies.<i>Design</i>Case-control study.<i>Setting</i>Nonsyndromic oral clefts is an important public health problem. In the context of investigating risk factors for the occurrence of this malformation, previous spontaneous abortion have been considered in the etiology at NSOC.<i>Participants</i>There were 1004 participants. In the case group 502 mothers of children with NSOC, and in the control group 502 mothers of children without NSOC or any other malformation or syndrome.<i>Interventions</i>A standardized questionnaire was utilized to interview the maternal history of spontaneous abortion.<i>Mean Outcome Measure:</i>The data were evaluated using descriptive statistics, and comparisons were performed using the Chi-square test, adopting a significance level of 5%.<i>Results</i>The prevalence of maternal history of spontaneous abortion was 16.3% in the case group and 15.9% in the control group. Comparing the groups there was no statistical difference (p-value = 0.93). Analyzing the occurrence of previous spontaneous abortion, separating the case group according to the type of cleft in the child, no statistical differences were observed when comparing these groups between them.<i>Conclusion</i>Maternal history of spontaneous abortion was not associated with NSOC, not representing an independent risk factor for NSOC in the Brazilian population.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"627-632"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107592552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Quality of CLP-Related Information for Patients Provided by ChatGPT. ChatGPT 为患者提供的中氯磷相关信息的质量。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2023-12-21 DOI: 10.1177/10556656231222387
Gökhan Serhat Duran, Ebru Yurdakurban, Kübra Gülnur Topsakal
{"title":"The Quality of CLP-Related Information for Patients Provided by ChatGPT.","authors":"Gökhan Serhat Duran, Ebru Yurdakurban, Kübra Gülnur Topsakal","doi":"10.1177/10556656231222387","DOIUrl":"10.1177/10556656231222387","url":null,"abstract":"<p><p>ObjectiveTo assess the quality, reliability, readability, and similarity of the data that a recently created NLP-based artificial intelligence model ChatGPT 4 provides to users in Cleft Lip and Palate (CLP)-related information.DesignIn the evaluation of the responses provided by the OpenAI ChatGPT to the CLP-related 50 questions, several tools were utilized, including the Ensuring Quality Information for Patients (EQIP) tool, Reliability Scoring System (Adapted from DISCERN), Flesh Reading Ease Formula (FRES) and Flesch-Kinkaid Reading Grade Level (FKRGL) formulas, Global Quality Scale (GQS), and Similarity Index with plagiarism-detection tool. Jamovi (The Jamovi Project, 2022, version 2.3; Sydney, Australia) software was used for all statistical analyses.ResultsBased on the reliability and GQS values, ChatGPT demonstrated high reliability and good quality attributable to CLP. Furthermore, according to the FRES results, ChatGPT's readability is difficult, and the similarity index values of this software exhibit an acceptable level of similarity ratio. There is no significant difference in EQIP, Reliability Score System, FRES, FKGRL, GQS, and Similarity Index values among the two categories.ConclusionOpenAI ChatGPT provides a highly reliable, high-quality, but challenging to read, and acceptable similarity rate in providing information related to CLP. Ensuring that information obtained through these models is verified and assessed by a qualified medical expert is crucial.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"588-595"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Associations of Oral Clefts in Arabs. 阿拉伯人口腔裂隙的遗传关联。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 Epub Date: 2024-02-11 DOI: 10.1177/10556656231219433
Lateefa Alkharafi, Saud Alhasawi, Hisham Burezq, Alhanouf Alduraie, Muneera Alhuwais, Fatema Aldoub, Maryam Alduwaisan, Sara Aldoseri, Hala Hamdan, Nada Abdelhafez, Ashraf Mokhtar, Fawzi Alqatami, Ahmad Al-Serri, James Hartsfield, Suzanne Al-Bustan
{"title":"Genetic Associations of Oral Clefts in Arabs.","authors":"Lateefa Alkharafi, Saud Alhasawi, Hisham Burezq, Alhanouf Alduraie, Muneera Alhuwais, Fatema Aldoub, Maryam Alduwaisan, Sara Aldoseri, Hala Hamdan, Nada Abdelhafez, Ashraf Mokhtar, Fawzi Alqatami, Ahmad Al-Serri, James Hartsfield, Suzanne Al-Bustan","doi":"10.1177/10556656231219433","DOIUrl":"10.1177/10556656231219433","url":null,"abstract":"<p><p>ObjectiveThis study aims to investigate genetic association between Non-syndromic Cleft lip with or without palate (NCLP) and 14 specific Single Nucleotide Polymorphism (SNPs) reported to be associated with NCLP from previous Genome Wide Association Studies (GWAS).DesignA prospective case-control study.SettingMinistry of Health (MOH) Cleft and Craniofacial Clinic and Kuwait University.Patients/ParticipantsOne hundred sixty-four NCLP patients were recruited from MOH Cleft and Craniofacial clinic, and 491 controls from the Kuwait DNA bank established at Kuwait University.InterventionsTotal gDNA was extracted from whole blood withdrawn from patients and genotyped by real time PCR. Hardy-Weinberg Equilibrium was tested, and the set p value for significance (p < 0.05) was adjusted using the Benjamini - Hoochberg procedure to achieve 5% false discovery rate.Main Outcome MeasuresLogistic regression multivariate analysis was used to test statistically significant differences between cases and controls. Genotyping both groups for the variants was determined through the allele discrimination software program.ResultsThere was statistically significant difference between cases and controls in relation to two SNPs; <i>LOC102724968 (rs13041247</i>) (MAF cases/control = C (0.28/0.39) OR Homozygous = 1.30; 95% CI = 1.09-1.56, p = 0.0041) and <i>PVT1 (rs987525)</i> (MAF cases/control = A (0.41/0.27) OR heterozygous = 1.48; 95% CI =1.12-1.95, p = 0.0073), increasing the susceptibility to NCLP.ConclusionsGenetic variations are associated with the occurrence of oral clefts. Customized Next Generation Sequencing (NGS) panel to the Arab ethnicity is encouraged. In Addition, national preconception genetic carrier screening tests should expand to include common craniofacial anomalies.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"683-691"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139724714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cephalometric Assessment of Sella Turcica Morphology and Dimensions in Patients with Non-Syndromic Cleft Lip and Palate: A Systematic Review and Meta-Analysis. 对非综合征唇腭裂患者蝶鞍形态和尺寸的头颅测量评估:系统回顾与元分析》。
IF 1.1 4区 医学
Cleft Palate-Craniofacial Journal Pub Date : 2025-04-01 DOI: 10.1177/10556656251327024
Hamza Parvez Siddiqui, Karthik Sennimalai, Madhanraj Selvaraj, Vilas D Samrit, Abhijeet Jaiswal
{"title":"Cephalometric Assessment of Sella Turcica Morphology and Dimensions in Patients with Non-Syndromic Cleft Lip and Palate: A Systematic Review and Meta-Analysis.","authors":"Hamza Parvez Siddiqui, Karthik Sennimalai, Madhanraj Selvaraj, Vilas D Samrit, Abhijeet Jaiswal","doi":"10.1177/10556656251327024","DOIUrl":"https://doi.org/10.1177/10556656251327024","url":null,"abstract":"<p><p>ObjectiveThis review aimed to analyze the size and morphology of the Sella Turcica (ST) in 2-dimensional cephalometric radiographs of individuals with non-syndromic cleft lip and or palate (CLP/CP) compared with non-cleft individuals.MethodsA comprehensive search of multiple electronic databases was conducted without language and date restrictions until October 12, 2024. Studies were included that assessed ST dimensions in lateral cephalograms and compared the patients with non-syndromic CLP or CP and non-cleft individuals. The studies' quality assessment was assessed using the JBI case-control guidelines and the Anatomical Quality Assurance checklist. Quantitative analysis was performed using the random-effects meta-analysis model. The GRADE approach was employed to evaluate the certainty of evidence.ResultsOut of 1087 studies, 10 met the inclusion criteria, and 6 were included in the quantitative analysis. Of all, 7 studies were rated moderate, 2 low, and 1 high quality. Unilateral CLP (UCLP) cohort showed statistically significant smaller dimensions for length (MD = -1.22; 95% CI: -2.21, -0.24), depth (MD = -0.65; 95% CI: -1.41, -0.11), and area (MD = -4.75; 95% CI: -7.22, -2.28) and the odds of ST bridging were more than twice compared to non-cleft control. No significant differences were observed in ST dimensions in bilateral CLP versus non-Cleft and UCLP.ConclusionThe evidence of differences in ST dimensions between non-cleft individuals and patients with UCLP is weak, owing to a greater risk of bias resulting from inadequate reporting of design variability, participant demographics, and measurement methods. Future studies with better methodology and larger sample sizes are needed.</p>","PeriodicalId":49220,"journal":{"name":"Cleft Palate-Craniofacial Journal","volume":" ","pages":"10556656251327024"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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