Objective:To investigate the management of granulation tissue during surgery for infected congenital preauricular fistula and to assess the surgical outcomes. Methods:To summarize the surgical methods and the treatment of granulation methods in 140 cases of congenital preauricular fistula during the period of infection treated in our department from January 2018 to September 2022. The study divided patients into an observation group （79 patients） undergoing fistulectomy without granulation treatment, and a control group （61 patients） where fistulectomy and granulation resection were performed concurrently.. After six months of follow-up, the wound healing, recurrence rates, and the aesthetic assessment of granulation healing were evaluated using the Stony Brook Scar Evaluation Scale（SBSES）. Results:The two surgical approaches were applied to a total of 140 patients with infected congenital preauricular fistula. There was no statistical difference in wound healing and recurrence rates between the observation group and the control group. However, the observation group exhibited smaller scars. Conclusion:In cases of infected congenital preauricular fistula, surgical removal without excising granulation tissue is feasible, leading to effective healing and lesser scar formation.
Humans ; Cicatrix ; Wound Healing ; Craniofacial Abnormalities ; Fistula/surgery* ; Treatment Outcome

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene variation at Children's Hospital Capital Institute of Pediatrics in 2021 were collected retrospectively. Using " PHF21A gene" as the keyword, relevant articles were searched at CNKI, Wanfang Data and PubMed from establishment of databases to February 2023. Clinical and genetic features of IDDBCS were summarized in the combination of this case. Results: An 8 months of age boy showed overgrowth (height, weight and head circumference were all higher than the 97^th percentile of children of the same age and sex) and language and motor developmental delay after birth, and gradually showed autism-like symptoms like stereotyped behavior and poor eye contact. At 8 months of age, he began to show epileptic seizures, which were in the form of a series of spastic seizures with no reaction to adrenocorticotropic hormone but a good response to vigabatrin. Physical examination showed special craniofacial appearances including a prominent high forehead, sparse eyebrows, broad nasal bridge, and downturned mouth with a tent-shaped upper lip. The patient also manifested hypotonia. Whole exome sequencing showed a de novo heterogeneous variant, PHF21A (NM_001101802.1): c.54+1G>A, and IDDBCS was diagnosed. A total of 6 articles (all English articles) were collected, involving this case and other 14 patients of IDDBCS caused by PHF21A gene variation. Clinical manifestations were intellectual disability or developmental delay (15 patients), craniofacial anomalies (15 patients), behavioral abnormalities (12 patients), seizures (9 patients), and overgrowth (8 patients). The main pathogenic variations were frameshift variations (8 patients). Conclusions: IDDBCS should be considered when patients show nervous developmental abnormalities, craniofacial anomalies, seizures and overgrowth. PHF21A gene variation detection helps to make a definite diagnosis.
Male ; Humans ; Child ; Intellectual Disability/genetics* ; Developmental Disabilities/genetics* ; Retrospective Studies ; Seizures/genetics* ; Craniofacial Abnormalities/genetics* ; Histone Deacetylases/genetics*

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS). METHODS: A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The child, a 3-year-and-4-month-old male, had presented with global developmental delay and cranial malformation. Genetic testing revealed that he has harbored a heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene, for which both of his parents were of the wild type. This low-frequency variant may alter the structure and function of the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was classified as a pathogenic variant (PVS1+PS2+PM2_Supporting). CONCLUSION The heterozygous c.1703delA (p.K568Sfs9) variant of the PHF21A gene probably underlay the IDDBCS in this patient.
Child ; Male ; Humans ; Infant ; Developmental Disabilities/genetics* ; Craniofacial Abnormalities/genetics* ; Seizures/genetics* ; Intellectual Disability/genetics* ; Problem Behavior ; Mutation

Objective:To compare the clinical effect of surgical treatment of congenital preauricular fistulas in children during the local infection period and static inflammatory period. Methods:Forty children with congenital preauricular fistula infection treated in our hospital from January 2020 to December 2022 were selected as the experimental group, and 39 children with congenital preauricular fistula inflammation at static period were selected as the control group. The fistula of the two groups of children aged between 1-14 years old was located in front of the foot of the ear wheel or the foot of the ear wheel, and all were unilateral fistulas. The postoperative follow-up was 6 months to 2 years, and the efficacy of the two groups was compared. Results:There was no significant difference in the healing rate of stage Ⅰ and stage Ⅱ between the two groups（P>0.05）. There was no significant difference in fistula recurrence rate and satisfaction with the preauricular scar between the two groups after treatment（P>0.05）. There was no significant difference in postoperative hospital stay between the experimental group and the control group（P>0.05）. Conclusion:The effect of surgical treatment of congenital preauricular fistula in the infected period is similar to that of surgical treatment in the static period of inflammation, and it can reduce the pain of dressing change under local anesthesia in children, avoid the second operation in children, and reduce the economic cost. This treatment method is worthy of clinical promotion. Appropriate incision and resection method were designed according to the fistula and infection sites.
Humans ; Child ; Infant ; Child, Preschool ; Adolescent ; Fistula/surgery* ; Inflammation ; Craniofacial Abnormalities/surgery* ; Cicatrix ; Treatment Outcome

Objective: To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome (WDSTS). Methods: To review and analyze the clinical data, including general conditions, clinical manifestations, growth hormone, cranial or pituitary gland magnetic resonance imaging (MRI),gene results and other data, 6 cases with WDSTS admitted to the Department of Endocrinology, Genetics and Metabolism of Jiangxi Provincial Children's Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited. Results: Of the 6 patients, 2 were male and 4 were female. The age of the first visit ranged from 1.0 to 11.2 years. All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis (mainly on the back and limbs). Among them, case 5 had a growth hormone deficiency, and case 2 and 4 had abnormalities revealed by cranial MRI. Variations in KMT2A gene were identified in these 6 patients: c.10900+2T>C,c.10837C>T(p.Gln3613*), c.4332G>A(p.E1444E), c.2508dupC(p.W838Lfs*9), c.11695_11696delinsT(p.T3899Sfs*73), c.9915dupA (p.P3306Tfs*22).Among these variations, c.4332G>A, c.11695_11696delinsT and c.9915dupA were novel mutations. Therefore, the final diagnosis of these patients was WDSTS. Conclusions: Patients presented with short stature and mental retardation, typical facial dysmorphism and hypertrichosis should be considered WDSTS. Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.
Abnormalities, Multiple ; Child ; Child, Preschool ; Craniofacial Abnormalities ; Female ; Growth Disorders/genetics* ; Histone-Lysine N-Methyltransferase ; Humans ; Hypertrichosis/genetics* ; Infant ; Intellectual Disability/genetics* ; Male ; Myeloid-Lymphoid Leukemia Protein ; Pregnancy ; Syndrome

OBJECTIVE: To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID). METHODS: Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA). RESULTS: Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance. CONCLUSION Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Craniofacial Abnormalities/genetics* ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Heart Defects, Congenital ; Humans ; Intellectual Disability/genetics*

OBJECTIVE: To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome. METHODS: Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR. RESULTS: Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents. CONCLUSION Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.
Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Craniofacial Abnormalities ; DNA Copy Number Variations ; Female ; Genetic Testing ; Heart Defects, Congenital ; Humans ; Intellectual Disability/genetics* ; Mutation

Introduction: Coated archwires improve aesthetics because of the tooth-coloured appearance. However, colour change of the coated archwires have been reported in vitro. Nonetheless, little is known to what extent this colour change occurs clinically. This second part of the multi-centre, double-blind, randomised controlled trial evaluated the colour change (∆E*) of three coated archwires with their controls and patient perception. Methods: 84 patients who received treatment with upper and lower fixed appliance treatment were invited. Consented patients were randomised to receive one of four treatment interventions using 0.014” superelastic nickel-titanium archwires from (1) Orthocare (2) RMO (3) G&H, and (4) 3M Unitek® uncoated. These archwires were ligated during bonding and collected after 8th week. After removal, the digital images of the archwires were assessed for colour change using Adobe® Photoshop® software, and the CIE L*a*b* system was used to calculate the ΔE* values. Patient perception was measured using oral aesthetic subjective impact scale (OASIS) questionnaire. Results: For colour change and patient perception assessment, 132 archwires from 66 participants who had been treated with aesthetic archwires were collected. Two fractured archwires were excluded. Initial analysis revealed all three aesthetic archwires groups showed significant mean of ∆E* with the highest was found in Orthocare (23.9), and the lowest is G&H (16.8). Post hoc comparison revealed statistically significant mean of ∆E* in Orthocare when compared with other groups (p <0.001). There was no statistically significant difference for patient perception between archwire groups. Conclusion: Preliminary results revealed that significant ∆E* in Orthocare group and patients showed positive perception following clinical use
Craniofacial & ; Biomaterial Sciences Cluster, Advanced Medical & ; Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Penang, Malaysia. 2 School of Dental Sciences, Universiti Sains Malaysia (Health Campus), 16150 Kubang Kerian, Kelantan, Malaysia

Chrysanthemum rubellum (durian) flower (CR) is well-known for its usefulness in conventional and advanced medicine. Bioactive glass properties are geared towards hard tissue regeneration. Hence, this study aims to investigate the response of dental pulp stem cells (DPSC) when exposed to bioactive glass-chrysanthemum flower extract-conditioned medium. Methods: Chrysanthemum rubellum (durian) yellow coloured petals freeze dried extracts (CRE) was prepared by separation and agitation in distilled water where the final powdery compound was being investigated and combined with melt-derived BG 45S5 powder to produce BGCRE-conditioned medium. The CRE extracts in various concentrations and BGCRE-conditioned medium were exposed to DPSC and the cells responses were assessed using AB and MTT assays. The CRE and BGCRE-conditioned media were also assessed using ICP-OES to check for ionic release profile from both medium. Results: The CRE-conditioned medium (7.81, 15.63, 31.25 and 62.5 μg/ml) showed a dose-dependent effect towards DPSC from Days 1 until 14. The BGCRE-conditioned medium containing BG powders (1 mg/ml) with the lower amount of CRE extracts (0.02 and 0.1 mg/ml) promoted DPSC viability and proliferation rate from Days 1 until 14 based on AB and MTT assays. The BGCRE-conditioned medium has potentially affected the DPSC viability and proliferation. Conclusion: The presence of CRE in BGCRE-conditioned medium enhanced the DPSC viability and proliferation possibly through the combined effect of CRE and BG. This BGCRE combination showed potential as natural medicament for dental tissue regeneration
Craniofacial and Biomaterials Sciences Cluster ; Advanced Medical & ; Dental Institute ; Universiti Sains Malaysia ; Bertam ; 13200 Kepala Batas ; Pulau Pinang ; Malaysia 2 Department of Paedodontics and Preventive Dentistry ; Coorg Institute of Dental Sciences ; Virajpet ; 571218 ; Coorg Institute ; Karnataka State ; India 3 Faculty of Applied Sciences ; Universiti Teknologi MARA ; 40450 Shah Alam ; Selangor ; Malaysia

Colour stability of the material is an essential factor that contributes to the selection of a flexible denture material. Staining effects on the denture may result in unattractive appearance, the dissatisfaction of the wearer, and limited usage period of the denture. This study aims to identify the colour stability of the Valplast flexible denture material using three types of beverages. Methods: A total of 32 disc-shaped flexible resin materials (20 +/- 0.1 mm in diameter and thickness 3 +/- 0.1 mm) were prepared based on the manufacturer instructions. The samples were randomly divided into 4 groups of immersion: distilled water (control), coffee solution, tea solution and red wine. The samples were left in the specified immersion solution for up to 60 days. Colour changes were measured after 1, 3, 7, 14, 21, 30, 45 and 60 days of immersion. Results: The samples immersed in coffee solution changed from S1 to S2, whereas samples in tea solution changed from S1 to S3. Additionally, samples in red wine changed from S1 to S4, as observed using the Valplast colour tone guide. The highest reflection measured using spectroscopy was 65.146 at 385.19 nm of the control samples, whereas the lowest reflection was 1.974 at the wavelength of 385.97 nm on the samples immersed in the red wine. Conclusion: The most significant difference can be observed in the red wine group, followed by samples in tea and coffee solutions. Moreover, increasing the immersion period causes increasing staining effect of the denture.
Craniofacial and Biomaterial Sciences Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200, Bertam, Penang, Malaysia 2 Institut Latihan Kementerian Kesihatan Malaysia (Pergigian), No.3 Jalan Sepoy Lines, 10450 Georgetown, Penang, Malaysia 3 Division of Research and Networking, Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200, Bertam, Penang, Malaysia 4 School of Physics, Universiti Sains Malaysia, 11800 Minden, Penang, Malaysia