Displaying publications 61 - 80 of 84 in total

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  1. Mohamed Hisham Mohamed Jali @ Yunos, Shaifulizan Abdul Rahman, Ramizu Shaari
    MyJurnal
    Pierre Robin Sequence (PRS) is a condition consists of set of anomalies, which are
    cleft palate, micrognathia and glossoptopsis. Management of patients with PRS addresses two main
    problems, namely airway obstruction and feeding difficulties. Airway obstruction may lead to
    obstructive sleep apnea (OSA). Treatment modalities for OSA are based on the causes. There are
    surgical and non-surgical methods. Non-surgical methods such as diet, medication, oral appliances
    and continuous positive airway pressure (CPAP) can only be employed in moderate cases. Surgical
    method such as maxillo-mandibular advancement or expansion can be achieved by orthognathic
    surgery or distraction osteogenesis. (Copied from article).
    Matched MeSH terms: Cleft Palate
  2. Patil PG, Nimbalkar-Patil SP
    J Prosthodont, 2018 Jan;27(1):94-97.
    PMID: 27002917 DOI: 10.1111/jopr.12464
    Bilateral cleft lip/cleft palate is associated with nasal deformities typified by a short columella. The presurgical nasoalveolar molding (NAM) therapy approach includes reduction of the size of the intraoral alveolar cleft as well as positioning of the surrounding deformed soft tissues and cartilages. In a bilateral cleft patient, NAM, along with columellar elongation, eliminates the need for columellar lengthening surgery. Thus the frequent surgical intervention to achieve the desired esthetic results can be avoided. This article proposes a modified activation technique of the nasal stent for a NAM appliance for columellar lengthening in bilateral cleft lip/palate patients. The design highlights relining of the columellar portion of the nasal stent and the wire-bending of the nasal stent to achieve desirable results within the limited span of plasticity of the nasal cartilages. With this technique the vertical taping of the premaxilla to the oral plate can be avoided.
    Matched MeSH terms: Cleft Palate/surgery*
  3. Yakob M, Hassan YR, Tse KL, Gu M, Yang Y
    PMID: 28092164 DOI: 10.1597/16-191
    Objective To test the reliability of the modified Huddart-Bodenham (MHB) numerical scoring system and its agreement with the GOSLON Yardstick categorization for assessing the dental arch relationships in unilateral cleft lip and palate (UCLP) cases. Design A retrospective study. Setting Faculty of Dentistry, The University of Hong Kong. Patients Forty-one nonsyndromic UCLP consecutive patients attending the Joint Cleft Lip/Palate Clinic at Faculty of Dentistry in the University of Hong Kong were selected. Interventions Study models at 8 to 10 years old (T1) and 10 to 12 years old (T2) were obtained from each patient. Main Outcome Measures Models were rated with the MHB scoring system and GOSLON Yardstick index. The intra- and interexaminer reliabilities as well as correlation of both scoring systems were evaluated. Furthermore, to investigate the outcome measurements consistency, the MHB scoring system and GOSLON Yardstick were independently used to compare the dental arch relationships from T1 to T2, with the samples split into intervention and nonintervention groups. Results The MHB scoring system presented good intra- and interexaminer agreement, which were comparable to those of the GOSLON Yardstick. The correlation between the MHB scoring system and GOSLON Yardstick scores was good. Both scoring systems showed similar results when assessing the change in the dental arch relationships from T1 to T2. Conclusions The MHB scoring system can be used as an alternative method to the commonly used GOSLON Yardstick for assessing dental deformities in UCLP patients. Both scoring systems showed similar results in assessing the improvement in dental arch relationships.
    Matched MeSH terms: Cleft Palate
  4. Hassan YR, Tse KL, Khambay B, Wong RWK, Gu M, Yang Y
    PMID: 28094563 DOI: 10.1597/15-155
    Objective To evaluate the severity of the dental arch relationships and the treatment outcomes of reverse headgear (RHG) in southern Chinese patients with unilateral cleft lip and palate (UCLP). Design A retrospective study. Setting Faculty of Dentistry, The University of Hong Kong. Patients Thirty-eight UCLP patients with complete records. Among them, 14 were later treated with RHG (RHG group) and 24 were under review (non-RHG group) before definitive orthodontic or in conjunction with orthognathic surgery. Interventions Study models at T1 (aged 9.4 ± 0.4 years old), prebone grafting and before any orthodontic treatment started; T2 (aged 11.3 ± 0.6 years old), after bone grafting, and RHG treatment (RHG group) or under review (non-RHG group); and T3 (aged 15.3 ± 3.2 years old), pretreatment of definitive orthodontic or in conjunction with orthognathic surgery. Main Outcome Measures With satisfactory intra- and interexaminer agreement proven by the kappa value, the dental arch relationships of the study models at T1, T2, and T3 were assessed by a solo calibrated examiner using the GOSLON Yardstick. Results The median GOSLON score for southern Chinese patients with UCLP at T1 was 4.0. Sixty percent of the patients were categorized as "poor" at T1. RHG significantly improved dental arch relationships from T1 to T2, and the improvement was maintained until T3 assessed by the GOSLON Yardstick. Conclusions The dental arch relationships in southern Chinese UCLP patients at 8 to 10 years old are unfavorable. RHG treatment shows positive effects in improving the dental arch relationships in UCLP patients, as assessed by the GOSLON Yardstick.
    Matched MeSH terms: Cleft Palate
  5. Arshad AI, Alam MK, Khamis MF
    Cleft Palate Craniofac J, 2018 05;55(5):682-687.
    PMID: 29518343 DOI: 10.1177/1055665618758278
    OBJECTIVES: The aim of this study is to assess the treatment outcome of complete unilateral cleft lip and palate (CUCLP) patients using modified Huddart/Bodenham scoring system (MHB). To determine whether there is an association of congenital and postnatal factors with the treatment outcome.

    DESIGN: Retrospective observational study.

    SETTING: Two regional cleft-referral centers.

    MAIN OUTCOME MEASURES: In the current study, 101 pairs of dental models of non-syndromic CUCLP patients were retrieved from hospital archives. Each occlusal relationship from central incisor till the first permanent molars were scored except the lateral incisor. Sum of 10 occlusal relationships in each study sample gave a total occlusion score. The primary outcome was the mean total occlusion score.

    RESULTS: According to MHB, a mean (standard deviation) total occlusion score of -8.92 (6.89) was determined. Based on treatment outcome, 66 cases were favorable (grades 1, 2, and 3) and 35 cases were unfavorable (grades 4 and 5). Chi-square tests indicated, difference of cheiloplasty ( P = .001) and palatoplasty ( P < .001) statistically significant. Five variables-gender, family history of cleft, cleft side, cheiloplasty, and palatoplasty-were analyzed with a logistic regression model.

    CONCLUSIONS: Final model indicated that cases treated with modified Millard technique (cheiloplasty) and Veau-Wardill-Kilner method (palatoplasty) had higher odds of unfavorable treatment outcome.

    Matched MeSH terms: Cleft Palate/surgery*
  6. Haque S, Alam MK, Khamis MF
    Cleft Palate Craniofac J, 2018 08;55(7):966-973.
    PMID: 27479096 DOI: 10.1597/15-293
    OBJECTIVE: To evaluate the dental arch relationship (DAR) of nonsyndromic unilateral cleft lip and palate (UCLP) and to explore the various phenotype and postnatal treatment factors that are responsible for poor DAR.

    DESIGN: Retrospective study.

    SETTING: School of Dental Science, Universiti Sains Malaysia.

    SUBJECTS: Eighty-four Bangladeshi children with nonsyndromic UCLP who received cheiloplasty and palatoplasty.

    MAIN OUTCOME MEASURES: Dental models were taken at 5 to 12 years of age (man: 7.69), and dental arch relationships were assessed using modified Huddart/Bodenham index (mHB) by two raters. Kappa statistics was used to evaluate the intra- and interexaminer agreements, chi-square was used to assess the associations, and logistic regression analysis was used to explore the responsible factors that affect DAR.

    RESULTS: The total mHB score (mean [SD]) was -8.261 (7.115). Intra- and interagreement was very good. Using crude and stepwise backward regression analysis, significant association was found between positive history of class III (P = .025, P = .030, respectively) and unfavorable DAR. Complete UCLP (P = .003) was also significantly correlated with unfavorable DAR.

    CONCLUSION: This multivariate study suggested complete type of UCLP and positive history of class III had a significantly unfavorable effect on the DAR.

    Matched MeSH terms: Cleft Palate/surgery*
  7. Goh BS, Tang CL, Hashim ND, Annamalay T, Abd Rahman FN
    PMID: 30578988 DOI: 10.1016/j.ijporl.2018.12.010
    OBJECTIVE: There is a dearth of studies on long term hearing status and behavioural patterns among cleft lip and/or palate children after their primary lip and palate closure in Malaysia. This study describes the audiology status and behavioural patterns in a group of school aged children with cleft lip and/or palate.

    METHOD: A cross sectional study was carried out where caretakers of cleft lip and/or palate were asked to complete the translated Malay language version of Strength Difficulties Questionnaire. The hearing status of the children was analyzed based on recent pure tone audiometric and tympanogram results. The patients' age, gender, type of cleft pathology, age of palatal surgery and behavioural patterns were examined for their potential relationship with hearing status.

    RESULTS: A total of 74 children (148 ears) aged between 7 and 17 years with cleft lip and/or palate were recruited. The result showed 37 ears (25.0%) had hearing loss with majority suffered from mild conductive hearing loss. There were 16 ears (10.8%) that had persistent middle ear effusion. Hearing improvement occurred when palatal repair was performed at the age of less than 1 year old. (p = 0.015) There was no significant relationship between patients' gender, age, type of cleft and history of myringotomy with their hearing status. In terms of behavioural patterns, 16.3% were abnormal for total behavioural score, 39.2% for peer problem and 17.6% for conduct problem. For prosocial behaviour, 16.3% were rated low and very low. There was fair correlation between age and hyperactivity problems (r = 0.44). Patients' gender, type of cleft pathology, had been teased apart and hearing status was found not related to behavioural problems.

    CONCLUSION: Cleft lip and/or palate patients have a good longterm hearing outcome. Majority had normal hearing and if there is hearing impairment, it is only a mild loss. Early palatal repair surgery before the age of 1 year can significantly reduce the risk of hearing loss. Cleft lip and/or palate patients experienced peer problems. There was no significant correlation between behavioural difficulty and hearing status among school-aged children with cleft lip and palate.

    Matched MeSH terms: Cleft Palate/surgery*
  8. El-Ashmawi NA, ElKordy SA, Salah Fayed MM, El-Beialy A, Attia KH
    Cleft Palate Craniofac J, 2019 04;56(4):438-453.
    PMID: 30052473 DOI: 10.1177/1055665618788421
    OBJECTIVE: The aim of the systematic review is to evaluate the effects of gingivoperiosteoplasty (GPP) on alveolar bone quality and facial growth in patients with cleft lip and palate (CLP).

    SEARCH METHODS: Electronic and manual search was done up to October 2017.

    ELIGIBILITY CRITERIA: Clinical and observational studies that compared GPP to control; patients without GPP evaluated either before or after the age for secondary bone graft (SBG).

    DATA COLLECTION AND ANALYSIS: Studies selection was done by 2 authors independently. Risk ratio and mean difference with 95% confidence intervals (CIs) were calculated using random-effects models.

    RESULTS: Thirteen articles were included in the review. All studies were at high risk of bias. Poorer alveolar bone quality was found in the GPP group compared to the SBG group. The pooled data showed a statistically significant increase in the incidence of Bergland type III in the GPP group compared to SBG (risk ratio: 11.51, 95% CI: 3.39-35.15). As for facial growth, GPP group resulted in a more retruded maxillary position (as indicated by "Sella-Nasion-Subspinale" angle [SNA value]) compared to control group by -1.36 (CI: -4.21 to 1.49) and -1.66 (CI: -2.48 to -0.84) when evaluated at 5 and 10 years, respectively. The protocol for presurgical infant orthopedics used in conjunction with the GPP procedure might have affected the results of the alveolar bone and facial growth outcomes.

    CONCLUSIONS: Definitive conclusions about the effectiveness of GPP cannot be drawn. Very weak evidence indicated that GPP might not be an efficient method for alveolar bone reconstruction for patients with unilateral and bilateral CLP. Gingivoperiosteoplasty surgery could lead to maxillary growth inhibition in patients with CLP.

    Matched MeSH terms: Cleft Palate*
  9. Sharif F, Mahmood F, Azhar MJ, Asif A, Zahid M, Muhammad N, et al.
    J Pak Med Assoc, 2019 May;69(5):632-639.
    PMID: 31105281
    OBJECTIVE: To compare the occurrence, distribution and management of clefts of lip and palate in local patients with the available data from India and China.

    METHODS: The retrospective study was conducted at the Interdisciplinary Research Centre in Biomedical Materials, COMSATS University Islamabad, Lahore Campus, Lahore, Pakistan, and comprised data related to a three-month period from January to March 2015 at two medical centres in Lahore. Data from Pakistani centres was analysed based on province, gender, age and clefts of lip and palate conditions and Spearman's correlation matrix.

    RESULTS: Of the 1574 cases, 1061(67.4%) were from Punjab, 361(23%) Khyber Pakhtunkhwa, 85(5%) Sindh and 67(4.2%) were from Azad Jammu and Kashmir. The incidence of clefts of lip and palate was higher in males than females. There was higher awareness of the need for timely management in new borns with clefts of lip and palate. Some patients seeking secondary treatment were also being surgically corrected. There is no national registry of children born with cleft defect, making it difficult to assess the full scale of the problem..

    CONCLUSIONS: Based on available data, it is likely that there are many adults who have not been treated when younger..

    Matched MeSH terms: Cleft Palate/epidemiology*; Cleft Palate/surgery
  10. Mohamad Shah NS, Sulong S, Wan Sulaiman WA, Halim AS
    Mol Genet Genomic Med, 2019 May;7(5):e635.
    PMID: 30924295 DOI: 10.1002/mgg3.635
    BACKGROUND: Nonsyndromic cleft lip and/or palate is one of the most common human birth defects worldwide that affects the lip and/or palate. The incidence of clefts varies among populations through ethnic, race, or geographical differences. The focus on Malay nonsyndromic cleft lip and/or palate (NSCL/P) is because of a scarce report on genetic study in relation to this deformity in Malaysia. We are interested to discuss about the genes that are susceptible to cause orofacial cleft formation in the family.

    METHODS: Genome-wide linkage analysis was carried out on eight large extended families of NSCL/P with the total of 91 individuals among Malay population using microarray platform. Based on linkage analyses findings, copy number variation (CNV) of LPHN2, SATB2, PVRL3, COL21A1, and TOX3 were identified in four large extended families that showed linkage evidence using quantitative polymerase chain reaction (qPCR) as for a validation purpose. Copy number calculated (CNC) for each genes were determined with Applied Biosystems CopyCallerTM Software v2.0. Normal CNC of the target sequence expected was set at two.

    RESULTS: Genome-wide linkage analysis had discovered several genes including TOX3 and COL21A1 in four different loci 4p15.2-p16.1, 6p11.2-p12.3, 14q13-q21, and 16q12.1. There was significant decreased, p 

    Matched MeSH terms: Cleft Palate/genetics*; Cleft Palate/pathology
  11. Wong LS, Lim E, Lu TC, Chen PKT
    Int J Oral Maxillofac Surg, 2019 Jun;48(6):703-707.
    PMID: 30755357 DOI: 10.1016/j.ijom.2019.01.010
    The surgical approach for the correction of residual velopharyngeal insufficiency requiring secondary surgery at Chang Gung Memorial Hospital is the modified Furlow palatoplasty with pharyngeal flap (mFP-PF). The aim of this study was to describe the mFP-PF technique and to determine the results obtained with regard to improvements in velopharyngeal function in patients undergoing this surgery. This retrospective analysis included 58 non-syndromic patients treated during the period 1992-2015 who complained of hypernasal speech after primary cleft palate repair and failed postoperative speech therapy. All of them underwent mFP-PF surgery. Preoperative and postoperative perceptual speech assessment results were obtained. The male to female ratio in the study group was 1.2:1, and the mean patient age at the time of surgery was 8.27 years. The patients underwent nasoendoscopic examination and the velar closing ratio was categorized as 0.1-0.4 in 53.4% and 0.5-0.7 in 46.6%. The assessment of speech after mFP-PF showed statistically significant changes for all perceptual speech outcomes. The incidence of repeat surgery was 3.4%. This study revealed that 96.6% of patients did not require second surgery for velopharyngeal insufficiency. Further studies on obstructive sleep apnoea in post-mFP-PF patients and improvements to the surgical technique should be considered.
    Matched MeSH terms: Cleft Palate*
  12. Peter S, Abdul Rahman ZA, Pillai S
    Int J Oral Maxillofac Surg, 2019 Oct;48(10):1317-1322.
    PMID: 31014926 DOI: 10.1016/j.ijom.2019.03.896
    The aim of this study was to document differences in hypernasality during speaking and singing among children with cleft palate and to compare nasality score ratings of trained and untrained listeners. Twenty subjects with cleft palate aged between 7 and 12 years participated in this study. Audio recordings were made of the children reading a passage and singing a common local song, both in the Malay language. The degree of hypernasality was judged through perceptual assessment. Three trained listeners (a speech therapist, a classical singer, and a linguistic expert - all academicians) and two untrained listeners (a cleft volunteer worker and a national high school teacher) assessed the recordings using a visual analogue scale (VAS). Inter-rater and intra-rater reliability for hypernasality in both speaking and singing were verified using the intra-class correlation coefficient (ICC). A significant reduction in hypernasality was observed during singing as compared to speaking, indicating that hypernasality reduces when a child with cleft palate sings. The act of singing significantly reduces hypernasality. The outcome of this study suggests that children with cleft palate would benefit from singing exercises to ultimately reduce hypernasality. However, future research is needed to objectively measure nasality in singing compared to speaking.
    Matched MeSH terms: Cleft Palate*
  13. Lee JY, Mohd Zainal H, Mat Zain MAB
    Cleft Palate Craniofac J, 2019 10;56(9):1243-1248.
    PMID: 31092003 DOI: 10.1177/1055665619846772
    Congenital bifid tongue with cleft palate is a very rare malformation with different variations. We are reporting 2 cases of rare congenital bifid tongue with cleft palate in our hospital setting and their surgical management. A multidisciplinary approach, well-planned staged operations, rehabilitation, and follow-up are needed to achieve favorable outcomes.
    Matched MeSH terms: Cleft Palate
  14. Mat Saad AZ, Chai KS, Wan Sulaiman WA, Mat Johar SFN, Halim AS
    Arch Plast Surg, 2019 Nov;46(6):518-524.
    PMID: 31775204 DOI: 10.5999/aps.2019.00227
    BACKGROUND: Anterior palatal repair performed during cleft lip repair using a vomerine flap may assist in recruiting additional soft tissue for subsequent completion of palatoplasty, especially in patients with a wide cleft. We present our early.

    RESULTS: in the hope of triggering a re-evaluation of this technique regarding its advantages for maxillary growth through further studies of patients with a wide cleft.

    METHODS: A retrospective analysis of patients with complete unilateral and bilateral cleft lip and palate was performed, including cleft and palatal measurements taken during initial surgery (lip repair together with anterior palate repair) and upon completion of palatoplasty.

    RESULTS: In total, 14 patients were included in this study, of whom nine (63.3%) had unilateral cleft lip and palate and five (37.5%) had bilateral cleft. All patients had a wide cleft palate. Lip and anterior palate repair was done at a median age of 3 months, while completion of palatoplasty was done at a median age of 10.5 months. Measurements taken upon completion of palatoplasty showed significant cleft width reduction in the mid-palate and intertubercle regions; however, the palatal arch distances at nearby landmarks showed non-significant marginal changes.

    CONCLUSIONS: Anterior palate repair using a vomerine flap significantly reduced the remaining cleft width, while the palatal width remained. Further research is warranted to explore the long-term effects of this technique in wide cleft patients in terms of facial growth.

    Matched MeSH terms: Cleft Palate
  15. Haque S, Khamis MF, Alam MK, Ahmad WMAW
    J Craniofac Surg, 2020 May 04.
    PMID: 32371703 DOI: 10.1097/SCS.0000000000006464
    Studies have claimed that the maxillary arch dimension of unilateral cleft lip and palate (UCLP) patient is significantly smaller than normal patient. Multiple factors (both congenital and post natal treatment factors) are believed to have an impact on the treatment outcome (maxillary arch retardation) of UCLP patient. The aim of this study was to evaluate the effects of multiple factors on the treatment outcome by assessing the maxillary arch dimension of UCLP Children. Eighty-five Malaysian UCLP children were taken who received cheiloplasty and palatoplasty. Laser scanned 3D digital models of UCLP subjects were prepared before any orthodontic treatment and bone grafting at 7.69 ± 2.46 (mean± SD) years of age. Intercanine width (ICW), intermolar width (IMW), and arch depth (AD) measurements of maxillary arch were measured with Mimics software. Multiple linear regression analyses were used to evaluate the association between multiple factors (gender, UCLP type, UCLP side, family history of cleft, family history of class III malocclusion, techniques of cheiloplasty, and techniques of palatoplasty) and maxillary arch dimensions (ICW, IMW, and AD). P value was set at 5%. Significant association was found between 2 techniques of cheiloplasty and ICW (P = 0.001) and also between 2 techniques of palatoplasty and ICW (P = 0.046) of maxilla. No significant association observed in IMW and AD in relation to all other factors. Modified Millard techniques of Cheiloplasty and Bardach technique of palatoplasty had unfavorable effect on the treatment outcome by assessing the maxillary arch dimension (ICW) using laser scanned 3D digital models in Malaysian UCLP children.
    Matched MeSH terms: Cleft Palate
  16. Othman SA, Saffai L, Wan Hassan WN
    Clin Oral Investig, 2020 Aug;24(8):2853-2866.
    PMID: 31754872 DOI: 10.1007/s00784-019-03150-1
    OBJECTIVES: To validate the accuracy and reproducibility of linear measurements of three-dimensional (3D) images and to compare the measurements with the direct anthropometry method on cleft lip and palate (CLP) patients.

    MATERIALS AND METHODS: Nineteen linear facial measurements were derived from 16 standardized surface landmarks obtained from 37 cleft patients (20 males, 17 females; mean age 23.84 years, standard deviation ± 6.02). They were taken manually with calipers and were compared with the digitally calculated distance on the 3D images captured using the VECTRA-M5 360° Imaging System with pre-marked landmarks. Another pair of 19 linear measurements were computed on the 3D images 2 weeks apart for intra- and inter-observer agreements. Statistical analyses used were paired t test, the Bland-Altman analysis, and the intra-class correlation coefficient (ICC) index.

    RESULTS: Most of the linear measurements showed no statistically significant differences between the proposed method and direct anthropometry linear measurements. Nevertheless, bias of the 3D imaging system is present in the linear measurements of the nose width and the upper vermillion height. The measurements' mean biases were within 2 mm, but the 95% limit of agreement was more than 2 mm. Intra- and inter-observer measurements generally showed good reproducibility. Four inter-observer measurements, the upper and lower face heights, nose width, and pronasale to left alar base were clinically significant.

    CONCLUSIONS: Measurements obtained from this 3D imaging system are valid and reproducible for evaluating CLP patients.

    CLINICAL RELEVANCE: The system is suitable to be used in a clinical setting for cleft patients. However, training of the operator is strictly advisable.

    Matched MeSH terms: Cleft Palate
  17. Khan R, H Ya H, Pao W, Majid MAA, Ahmed T, Ahmad A, et al.
    Materials (Basel), 2020 Oct 16;13(20).
    PMID: 33081078 DOI: 10.3390/ma13204601
    Erosion-corrosion of elbow configurations has recently been a momentous concern in hydrocarbon processing and transportation industries. The carbon steel 90° elbows are susceptible to the erosion-corrosion during the multiphase flow, peculiarly for erosive slug flows. This paper studies the erosion-corrosion performance of 90° elbows at slug flow conditions for impact with 2, 5, and 10 wt.% sand fines concentrations on AISI 1018 carbon steel exploiting quantitative and qualitative analyses. The worn surface analyses were effectuated by using laser confocal and scanning electron microscopy. The experiment was conducted under air and water slug flow containing sand fines of 50 µm average size circulated in the closed flow loop. The results manifest that with the increase of concentration level, the erosion-corrosion magnitude increases remarkably. Sand fines instigate the development of perforation sites in the form of circular, elongated, and coalescence pits at the elbow downstream and the corrosion attack is much more obvious with the increase of sand fines concentration. Another congruent finding is that cutting and pitting corrosion as the primitive causes of material degradation, the 10 wt.% sand fines concentration in carrier phase increases the erosion-corrosion rate of carbon steel up to 93% relative to the 2 wt.% sand fines concentration in slug flow.
    Matched MeSH terms: Cleft Palate
  18. Mot Yee Yik, Rabiatul Basria S.M.N. Mydin, Emmanuel Jairaj Moses, Shahrul Hafiz Mohd Zaini, Abdul Rahman Azhari, Narazah Mohd Yusoff
    MyJurnal
    Emanuel syndrome, also referred to as supernumerary der(22) or t(11;22) syndrome, is a rare genomic syndrome. Patients are normally presented with multiple congenital anomalies and severe developmental disabilities. Affected newborns usually carry a derivative chromosome 22 inherited from either parent, which stems from a balanced translocation between chromosomes 11 and 22. Unfortunately, identification of Emanuel syndrome carriers is diffi- cult as balanced translocations do not typically present symptoms. We identified two patients diagnosed as Emanuel syndrome with identical chromosomal aberration: 47,XX,+der(22)t(11;22)(q24;q12.1)mat karyotype but presenting variable phenotypic features. Emanuel syndrome patients present variable phenotypes and karyotypes have also been inconsistent albeit the existence of a derivative chromosome 22. Our data suggests that there may exist ac- companying genetic aberrations which influence the outcome of Emanuel syndrome phenotypes but it should be cautioned that more patient observations, diagnostic data and research is required before conclusions can be drawn on definitive karyotypic-phenotypic correlations.

    Matched MeSH terms: Cleft Palate
  19. Ong HY, Ng JJ, Ong HJ, Wong SJ, Gopalan S
    Cureus, 2021 Feb 28;13(2):e13616.
    PMID: 33816015 DOI: 10.7759/cureus.13616
    A tooth in the nasal cavity is an uncommon phenomenon. The exact mechanism is unclear, and patients may present with non-specific nasal symptoms. We encountered a 24-year-old patient with history of cleft palate repair, presenting to us with unilateral nasal discharge not improving with conventional medications. Rigid nasal endoscopy revealed a rhinolith-like foreign body at the floor of the left nasal cavity. Removal of the rhinolith was done under general anesthesia, and it turned out to be an intranasal tooth. Intranasal tooth is often misdiagnosed due to its non-specific symptoms. Detailed dental and oropharyngeal examination as well as imaging studies are essential in diagnosing an intranasal tooth. Early surgical removal is the mainstay of treatment in order to prevent further complications. Patients with unilateral nasal symptoms not responding to conventional treatment require proper ear, nose, and throat (ENT) evaluation to rule out other pathology.
    Matched MeSH terms: Cleft Palate
  20. Ghazali N, Abd Rahman N, Ahmad A, Sulong S, Kannan TP
    Front Physiol, 2021;12:637306.
    PMID: 33732167 DOI: 10.3389/fphys.2021.637306
    Nonsyndromic cleft lip and or without cleft palate (NSCL/P) with the hypodontia is a common developmental abnormality in humans and animals. This study identified the genetic aberration involved in both NSCL/P and hypodontia pathogenesis. A cross-sectional study using genome-wide study copy number variation-targeted CytoScan 750K array carried out on salivary samples from 61 NSCL/P and 20 noncleft with and without hypodontia Malay subjects aged 7-13 years old. Copy number variations (CNVs) of SKI and fragile histidine triad (FHIT) were identified in NSCL/P and noncleft children using quantitative polymerase chain reaction (qPCR) as a validation analysis. Copy number calculated (CNC) for each gene determined with Applied Biosystems CopyCaller Software v2.0. The six significant CNVs included gains (12q14.3, 15q26.3, 1p36.32, and 1p36.33) and losses (3p14.2 and 4q13.2) in NSCL/P with hypodontia patients compared with the NSCL/P only. The genes located in these regions encoded LEMD3, IGF1R, TP73, SKI, FHIT, and UGT2β15. There were a significant gain and loss of both SKI and FHIT copy number in NSCL/P with hypodontia compared with the noncleft group (p < 0.05). The results supported that CNVs significantly furnish to the development of NSCL/P with hypodontia.
    Matched MeSH terms: Cleft Palate
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