2,284 results on '"*CRANIOFACIAL abnormalities"'
Search Results
2. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)
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National Ataxia Foundation, International WAGR Syndrome Association, 4p- Support Group, ML4 Foundation, Cornelia de Lange Syndrome Foundation, Stickler Involved People, Kawasaki Disease Foundation, Klippel-Feil Syndrome Alliance, Klippel-Feil Syndrome Freedom, Hyperacusis Research Limited, Hypersomnia Foundation, Kabuki Syndrome Network, Kleine-Levin Syndrome Foundation, Leiomyosarcoma Direct Research Foundation, Marinesco-Sjogren Syndrome Support Group - NORD, Mucolipidosis Type IV (ML4) Foundation, People with Narcolepsy 4 People with Narcolepsy (PWN4PWN), Soft Bones Incorporated, American Multiple Endocrine Neoplasia Support, Atypical Hemolytic Uremic Syndrome Foundation, All Things Kabuki, Wiedemann-Steiner Syndrome Foundation, Breast Implant Victim Advocates, PROS Foundation, American Behcet's Disease Association, Alstrom United Kingdom, Athymia, Curing Retinal Blindness Foundation, HSAN1E Society, 1p36 Deletion Support and Awareness, The Alagille Syndrome Alliance, Autoinflammatory Alliance, Beyond Batten Disease Foundation, Bohring-Opitz Syndrome Foundation, INC, Cockayne Syndrome Network (Share and Care), CRMO Foundation, Cure VCP Disease,INC, FOD Support, Cystinosis Research Foundation, Global DARE Foundation, Hypnic Jerk-Sleep Myoclonus Support Group, Jansen's Foundation, KCNMA1 Channelopathy International Advocacy Foundation, Kawasaki Disease Foundation Australia, Life with LEMS Foundation, Lowe Syndrome Association, The Malan Syndrome Foundation, Maple Syrup Urine Disease Family Support Group, International Association for Muscle Glycogen Storage Disease (IamGSD), Myhre Syndrome Foundation, DNM1 Families, Nicolaides Baraitser Syndrome (NCBRS) Worldwide Foundation, The PBCers Organization, Pitt Hopkins Research Foundation, Recurrent Meningitis Association, Recurrent Respiratory Papillomatosis Foundation, Remember the Girls, Smith-Kingsmore Syndrome Foundation, SPG Research Foundation, Team Telomere, Transient Global Amnesia Project, The Charlotte & Gwenyth Gray Foundation, The Cute Syndrome Foundation, The Maddi Foundation, White Sutton Syndrome Foundation, Zmynd11 Gene Disorder, Cauda Equina Foundation, Inc, Tango2 Research Foundation, Noah's Hope - Hope4Bridget Foundation, Project Sebastian, SMC1A Epilepsy Foundation, International Foundation for Gastrointestinal Disorders, Endosalpingiosis Foundation, Inc, International Sacral Agenesis/Caudal Regression Association (ISACRA), Scheuermann's Disease Fund, Batten Disease Support and Research Association, Kennedy's Disease Association, Cure Mito Foundation, Warburg Micro Research Foundation, Cure Mucolipidosis, Riaan Research Initiative, CureARS A NJ Nonprofit Corporation, CACNA1H Alliance, IMBS Alliance, SHINE-Syndrome Foundaion, Non- Ketotic Hyperglycinemia (NKH) Crusaders, Hypertrophic Olivary Degeneration Association (HODA), National Organization for Disorders of the Corpus Callosum (NODCC), Team4Travis, Taylor's Tale Foundation, Lambert Eaton (LEMS) Family Association, BARE Inc, STAG1 Gene Foundation, Coffin Lowry Syndrome Foundation, BLFS Incorporate, Aniridia North America, Cure Blau Syndrome Foundation, ARG1D Foundation, CURE HSPB8 Myopathy, International Society of Mannosidosis and Related Disorders, TBX4Life, Cure DHDDS, MANDKind Foundation, Krishnan Family Foundation, and SPATA Foundation
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- 2024
3. Craniofacial malformations in a stillborn mixed‐breed dog as a cause for dystocia.
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Bernard, Megan E., Coffin, Hannah R., Taylor, Ryan P., and Donnelly, Callum G.
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CRANIOFACIAL abnormalities , *UTERINE contraction , *HUMAN abnormalities , *CLEFT lip , *CLEFT palate - Abstract
This case report describes the findings of craniofacial anomalies associated with dystocia in a mixed‐breed bitch. A bitch in labour was presented for evaluation of dystocia, and an emergency caesarean section was performed. Two pups with craniofacial abnormalities were delivered by hysterotomy. One pup was stillborn, with congenital anomalies including palatoschisis (cleft palate), cheiloschisis (cleft lip), an open fontanelle, and a narrow teardrop‐shaped skull. The second pup was delivered alive and had cheiloschisis. Craniofacial malformations are a reported cause of dystocia in the dog, usually due to obstruction. However, dystocia in the reported case is presumed to have developed because the pup's craniofacial malformations prevented stimulation of uterine contractions. To the authors' knowledge, this is the first case report to describe craniofacial abnormalities affecting 100% of the litter and is the first known report to describe the relationship between craniofacial abnormalities and presumptive primary uterine inertia. [ABSTRACT FROM AUTHOR]
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- 2024
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4. The Use of Stem Cells in Bone Regeneration of Cleft Lip and Palate Patients: A Systematic Review.
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Jaber, Mohamed, Alshikh Ali, Aalaa Majed, El Saleh, Roba Imad, and Prasad, Prathibha
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CLEFT lip , *CRANIOFACIAL abnormalities , *STEM cell treatment , *CLEFT palate , *BONE regeneration - Abstract
Background and Objectives: Cleft lip alone or a combination of cleft lip and palate (CLP) is a common developmental abnormality in the craniofacial region. This umbrella review aims to identify promising avenues for treatment using stem cell therapy. Materials and Methods: Systematic reviews from 2014 to 2024 were searched among databases like PubMed, Medline, and Google Scholar. PRISMA guidelines were employed to ensure the thoroughness of the search. A quality assessment (ROBIS) of the included reviews was conducted to ensure the reliability and validity of the synthesized evidence. Results: Five systematic reviews were selected for this umbrella review. Results show that stem cell therapy, specifically using mesenchymal stem cells (MSCs) and adipocyte stem cells (ADSCs), promotes bone regeneration in CLP deformities. Although multiple studies have established the effectiveness of diverse types of stem cells in treating CLP, important considerations including safety concerns, methodological variability, and the need for standardization have been identified. The fact that the number of relevant systematic reviews that matched our inclusion criteria was limited could affect this research's robustness and may limit the breadth and depth of evidence synthesis. Definitive conclusions could not be reached due to variation among treatments and outcomes. Conclusions: The examined studies highlight the potential of stem cell therapy as a complementary approach to existing treatments for CLP. However, there are challenges that need to be addressed, including concerns regarding safety, variations in methodologies, and the need for standardization. Exploring the potential of other stem cell types may further enhance treatment outcomes for CLP patients. [ABSTRACT FROM AUTHOR]
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- 2024
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5. High resolution imaging of human development: shedding light on contrast agents.
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Jacobs, Karl, Docter, Daniel, de Smit, Lotte, Korfage, Hans A. M., Visser, Sophie C., Lobbezoo, Frank, Hlushchuk, Ruslan, and de Bakker, Bernadette S.
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ANGIOGRAPHY , *MICRORADIOGRAPHY , *THREE-dimensional imaging , *COMPUTED tomography , *BARIUM sulfate , *SYSTEMATIC reviews , *MEDLINE , *IODINE compounds , *LITERATURE reviews , *FETAL development , *ONLINE information services , *CRANIOFACIAL abnormalities , *CONTRAST media , *FETUS - Abstract
Background: Visualizing (micro)vascular structures remains challenging for researchers and clinicians due to limitations in traditional radiological imaging methods. Exploring the role of vascular development in craniofacial malformations in experimental settings can enhance understanding of these processes, with the effectiveness of high-resolution imaging techniques being crucial for successful research in this field. Micro-CT imaging offers 3D microstructural insights, but requires contrast-enhancing staining agents (CESAs) for visualizing (micro)-vascular tissues, known as contrast-enhanced micro-CT (CECT). As effective contrast agents are crucial for optimal visualization, this review focuses on comparative studies investigating such agents for micro-vascular tissue imaging using micro-CT. Furthermore, we demonstrate the utilization of B-Lugol solution as a promising contrast agent for acquiring high-quality micro-CT images of (micro)vascular structures in human embryonic samples. Method: This scoping review followed Preferred Reporting Items for Systematic Reviews and Meta-analysis Protocols. PubMed database provided relevant articles, screened initially by title and abstract. Inclusion and exclusion criteria defined outcomes of interest. Results: From an initial search, 273 records were identified, narrowed down to 9 articles after applying our criteria. Additionally, two articles were added through citation searching. This, a total of 11 articles were incorporated in this study. Conclusion: This micro-CT contrast agent review underscores the need for tailored choices based on research goals. Both Barium sulfate and Iodine-based agents showing excellent results, providing high resolution (micro) vascular content, especially in ex-vivo specimens. However, careful consideration of protocols and tissue characteristics remains imperative for optimizing the effectiveness of micro-CT imaging for the study of cranio-facial vascular development. [ABSTRACT FROM AUTHOR]
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- 2024
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6. Velopharyngeal dysfunction and speech-related characteristics in craniofacial microsomia: a retrospective analysis of 223 patients.
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Renkema, R.W., Ramdat Misier, K.R.R., Rooijers, W., Osolos, A., de Gier, H.H.W., Poldermans, H.G., Padwa, B.L., Dunaway, D.J., Caron, C.J.J.M., and Koudstaal, M.J.
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VELOPHARYNGEAL insufficiency ,GOLDENHAR syndrome ,CRANIOFACIAL abnormalities ,SPEECH therapists ,CLEFT lip - Abstract
This study aimed to document the prevalence, severity, and risk factors of velopharyngeal dysfunction (VPD) in craniofacial microsomia (CFM) and to analyse differences in VPD-related speech characteristics between CFM patients without cleft lip and/or palate (CL/P), CFM patients with CL/P, and CL/P patients without CFM (control). A total of 223 patients with CFM were included, of whom 59 had a CL/P. Thirty-four CFM patients had VPD, including 20 with a CL/P. VPD was significantly more prevalent in CFM with CL/P than in CFM without CL/P (odds ratio (OR) 4.1, 95% confidence interval (CI) 1.9–8.7; P < 0.001). Multivariate logistic regression showed a significant association between CL/P and VPD in CFM patients (OR 7.4, 95% CI 2.1–26.3; P = 0.002). The presence of VPD was not associated with sex, the laterality or severity of CFM. Speech problems related to VPD appeared to be similar among the different groups (CFM without CL/P, CFM with CL/P, CL/P without CFM). As 15.2% of all CFM patients and 8.5% of CFM patients without CL/P had VPD, it is proposed that all patients with CFM, with or without CL/P, should be assessed by a speech and language therapist for the potential risk of VPD. [ABSTRACT FROM AUTHOR]
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- 2024
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7. Novel patient-specific helical maxillary distractor: an in vitro feasibility study.
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Gateno, J., Bartlett, S., Kim, D., and Xia, J.
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CRANIOFACIAL abnormalities ,DISTRACTION ,RESEARCH teams ,MAXILLA ,MANUFACTURING processes - Abstract
At present, stock linear distractors are used for internal maxillary distraction osteogenesis. However, the authors' research group has demonstrated, through an in silico analysis, that linear distraction leads to bone deformities and malocclusion, whereas helical distraction can yield ideal outcomes. A system for designing and manufacturing custom helical distractors has recently been developed, and the feasibility of these appliances now needs to be assessed. This study was, therefore, conducted to gain an initial insight into their feasibility. The study had two goals. First, it aimed to demonstrate, in an in vitro model, that the novel system of custom helical distraction can produce appropriate clinical outcomes. The second aim was to compare the performance of custom helical distractors with that of stock devices and hybrid devices (i.e., linear appliances that feature patient-specific footplates). Interpreting the results as trends, this study showed that the system of custom helical distraction resulted in in vitro outcomes that were superior to those obtained with stock and hybrid devices. [ABSTRACT FROM AUTHOR]
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- 2024
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8. Measuring the Change in Soft Palate Length and Shape Following Maxillary Advancement: A Cohort Study in Patients with Orofacial Clefts.
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May, Andrew, Richards, Christina, and Moore, Mark
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MAXILLA surgery ,MANDIBLE surgery ,SPEECH ,T-test (Statistics) ,SOFT palate ,TERTIARY care ,CHILDREN'S hospitals ,RETROSPECTIVE studies ,DESCRIPTIVE statistics ,LONGITUDINAL method ,PRE-tests & post-tests ,ORTHOGNATHIC surgery ,MEDICAL records ,ACQUISITION of data ,CLEFT lip ,MAXILLA ,COMPARATIVE studies ,CRANIOFACIAL abnormalities ,CLEFT palate ,FLUOROSCOPY ,VELOPHARYNGEAL insufficiency ,DISEASE risk factors - Abstract
Objective: To evaluate a method of measuring the change in palatal length and shape following maxillary advancement using synchronous lateral videofluoroscopy and voice recording in order to understand how movement of the maxilla may affect VPI risk in patients with cleft lip and/or palate (CL/P). Design: Retrospective cohort study of children with cleft lip and/or palate. Setting: Single center, tertiary children's hospital. Participants: Patients with cleft lip and/or palate who underwent maxillary advancement between 2016–21 inclusive. Interventions: Maxillary advancement surgery, including those who underwent concurrent mandibular procedures. Main outcome measures: The length of the soft palate and the genu angle were measured throughout palatal dynamic range. Pre- and post-operative measurements were compared using a one sided T-test, with subgroup analysis for patients with clinical VPI. Results: Ten patients were examined. The mean distance of maxillary advancement was 10.5 mm. The average increase in pre-genu soft palate length was 2.8 mm in the resting position and 2.9 mm in the closed position. The genu angle decreased in the closed position by 16.3 degrees. Conclusions: The soft palate showed limited ability to lengthen following maxillary advancement and this may explain the risk of VPI. There was partial compensation by the muscle sling of the palate as demonstrated by a more acute post-operative genu angle and this suggests one reason for the variability of VPI reported. Future research is required to investigate how length and shape changes measured using this method can predict VPI risk. [ABSTRACT FROM AUTHOR]
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- 2024
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9. Autologous Tooth Transplantation in Craniofacial Malformations.
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Naros, Andreas, Schulz, Matthias, Finke, Hannah, Reinert, Siegmar, and Krimmel, Michael
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DENTAL radiography ,TOOTH transplantation ,DOCUMENTATION ,RISK assessment ,ENDODONTICS ,AUTOGRAFTS ,SCIENTIFIC observation ,RETROSPECTIVE studies ,TREATMENT effectiveness ,PRE-tests & post-tests ,DENTAL pathology ,MEDICAL records ,ACQUISITION of data ,CRANIOFACIAL abnormalities ,HEALTH facilities ,DENTAL extraction ,PATIENT aftercare ,SYMPTOMS - Abstract
Objective: To evaluate the applicability of transplanted teeth in young patients with craniofacial anomalies Design: Observational study Setting: Comprehensive Centre for Cleft Palate and Craniofacial Malformations Patients/Participants: Patients with craniofacial anomalies who underwent tooth transplantation. Only children with complete clinical and radiological documentation and a follow-up period of at least 1.5 years were included. Interventions: Tooth transplantation Main Outcome Measure(s): Retrospective evaluation of clinical records, pre- and postoperative radiographs, and operative charts. Clinical characteristics of patients, preoperative parameters and postoperative outcome parameters were collected. Results: A total of 17 patients with 23 tooth transplantations were included. The median follow-up period was 6.7 years. The pooled survival and success rates were 91%. Notably, one out of two teeth that were transplanted into the bone grafted alveolar cleft site had to be extracted, which might indicating a higher risk for this procedure. In total, two transplanted teeth had to be extracted during the follow-up period, one due to external resorption and the other one due to perio-endo lesion. One patient needed endodontic treatment due to pulp necrosis. Conclusion: We consider tooth transplantation to be a reliable and suitable procedure in the dental rehabilitation of young patients with craniofacial anomalies and fitting concomitant circumstances. We encourage craniofacial teams to reconsider this option more frequently in appropriate cases. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Generalized root agenesis in permanent dentition of a young adolescent patient with rhabdomyosarcoma: a case report.
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Habib, Saqib, Fatima, Bibi, and Khan, Farhan Raza
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THERAPEUTIC complications ,MOUTH ,TEETH abnormalities ,TUMORS in children ,INTERPROFESSIONAL relations ,PERMANENT dentition ,CHEMORADIOTHERAPY ,QUALITY of life ,RHABDOMYOSARCOMA ,ADVERSE health care events ,HEALTH care teams ,CHILDREN - Abstract
Background: Parameningeal rhabdomyosarcoma (PM-RMS) is a rare and aggressive soft tissue malignancy that primarily occurs in the head and neck region. The standard treatment approach for RMS involves a multimodal therapy regimen, which includes surgery, chemotherapy, and radiotherapy. However, the routine use of radiotherapy and chemotherapy in young patients with RMS in the head and neck region can lead to adverse effects on dental development and thereby, pose a challenge in planning dental intervention. Case presentation: This case report outlines the dental and facial developmental consequences in a 13-year-old child, who received chemo-radiotherapeutic intervention at the age of 7 years for the management of PM-RMS. Following treatment, the child exhibited significant dental complications, including arrested root growth and restricted mouth opening. Conclusions: This case highlights the necessity for interdisciplinary collaboration between oncologists, dentists, and other healthcare professionals to mitigate the adverse effects on dental health and overall quality of life in patients undergoing chemo-radiotherapy for rhabdomyosarcoma. [ABSTRACT FROM AUTHOR]
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- 2024
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11. Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.
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Zarate, Yuri A., Bosanko, Katherine, Derar, Nada, and Fish, Jennifer L.
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ARCHES , *MANDIBLE , *CRANIOFACIAL abnormalities , *EMBRYOLOGY , *SYNDROMES , *HUMAN abnormalities , *THYROTROPIN receptors - Abstract
SATB2‐associated syndrome (SAS, glass syndrome, OMIM#612313) is a neurodevelopmental autosomal dominant disorder with frequent craniofacial abnormalities including palatal and dental anomalies. To assess the role of Satb2 in craniofacial development, we analyzed mutant mice at different stages of development. Here, we show that Satb2 is broadly expressed in early embryonic mouse development including the mesenchyme of the second and third arches. Satb2−/− mutant mice exhibit microglossia, a shortened lower jaw, smaller trigeminal ganglia, and larger thyroids. We correlate these findings with the detailed clinical phenotype of four individuals with SAS and remarkable craniofacial phenotypes with one requiring mandibular distraction in childhood. We conclude that the mouse and patient data presented support less well‐described phenotypic aspects of SAS including mandibular morphology and thyroid anatomical/functional issues. [ABSTRACT FROM AUTHOR]
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- 2024
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12. Parental Perception of Oral Health and Oral Health Status of Pediatric Patients Attending an Urban Craniofacial Center.
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DeJonge, Lydia, Kratunova, Evelina, Wang, Heng, Patel, Pravin, Avenetti, David, and Alrayyes, Sahar
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COMMUNITY health services ,CROSS-sectional method ,HEALTH status indicators ,GINGIVA ,PARENT attitudes ,ORAL hygiene ,DESCRIPTIVE statistics ,PEDIATRICS ,LONGITUDINAL method ,URBAN hospitals ,CRANIOFACIAL abnormalities ,NEEDS assessment ,DENTAL caries ,DATA analysis software ,ORAL health ,URBAN health ,CHILDREN - Abstract
Objective: The objectives of this study were to assess the oral health status and parental perception of oral health needs of pediatric patients in an urban Craniofacial Center. Design: This research utilized a prospective cross-sectional matched study design. The data was collected prospectively via clinical oral examinations measuring dental caries experience and gingival health status. Parental perception of oral health was assessed through a validated questionnaire. Setting: The study was conducted at a Pediatric Dentistry Department and Craniofacial Center (CFC) in a large urban American city. Patients/Participants: Participants were recruited and enrolled from a CFC and Pediatric Dental Clinic. Main Outcome Measure(s): The outcome measures were the oral health status and parental perception thereof. Results: CFC patients' caries experience in primary teeth was significantly lower than that of a healthy matched cohort, but statistically similar in permanent teeth. CFC patients had significantly higher unmet dental treatment needs. CFC patients had poor oral hygiene and were shown to have significantly higher plaque levels and worse gingival health than that of a healthy matched cohort. Parental perception of oral health did not show a statistically significantly difference between the two groups. Conclusions: Patients in our study in an urban CFC were found to have a high unmet dental and poor oral hygiene. Despite the poor oral health status, parents of children with craniofacial anomalies did perceive their oral health as different from a matched cohort of patients without these conditions. [ABSTRACT FROM AUTHOR]
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- 2024
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13. Posterior Cranial Distraction in Craniosynostosis: A Systematic Review of the Literature.
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Khansa, Ibrahim, Drapeau, Annie I., and Pearson, Gregory D.
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APERT syndrome ,MUSCULOSKELETAL system diseases ,TREATMENT effectiveness ,DESCRIPTIVE statistics ,SURGICAL complications ,SYSTEMATIC reviews ,MEDLINE ,OPERATIVE surgery ,CRANIOSYNOSTOSES ,BONE lengthening (Orthopedics) ,ONLINE information services ,SKULL ,CRANIOFACIAL abnormalities - Abstract
Objective: Posterior cranial distraction (PCD) is a surgical technique to address craniosynostosis, especially in syndromic patients. The technique has the ability to significantly expand the cranium, while requiring minimal dural dissection, compared to cranial remodeling. Our goals were to determine the patient characteristics and surgical outcomes of PCD. The two questions that we sought to answer were: 1) What is the average published complication rate and the most common complications of PCD? and 2) How much intracranial volume expansion can one expect with PCD? Design: A PubMed database search of articles on PCD was performed. Case reports and articles with overlapping patients were excluded. A systematic review was performed using the remaining articles. Main Outcome Measures: Patient data were extracted in order to determine the total number of patients, patients with a syndrome, types of syndromes, mean age at surgery, mean distraction distance, mean increase in intracranial volume, and complications. Results: 18 articles representing 325 patients were analyzed. A syndrome was present in 68.6% of patients. The mean age at time of surgery was 22.1 months. Mean distraction amount was 24.7 mm. Mean increase in intracranial volume was 253.2 cm
3 . The overall complication rate was 32.2%, with the most common complications being surgical-site infection, hardware-related complications and delayed wound healing. Conclusions: PCD is a powerful technique in the management of syndromic craniosynostosis, although complication rates are significantly higher than traditional remodeling techniques. Future studies should compare the effects of supratorcular and infratorcular osteotomies on intracranial volume, cosmesis and complications. [ABSTRACT FROM AUTHOR]- Published
- 2024
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14. In Utero Exposure to Maternal Electronic Nicotine Delivery System use Demonstrate Alterations to Craniofacial Development.
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Kishinchand, Rajiv, Boyce, Mark, Vyas, Heema, Sewell, Leslie, Mohi, Amr, Brengartner, Lexie, Miller, Roy, Gorr, Matthew W., Wold, Loren E., and Cray, James
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BIOLOGICAL models ,RISK assessment ,FACIAL bones ,MATERNAL exposure ,PROPYLENE glycols ,RESEARCH funding ,SMOKING ,NICOTINE ,DESCRIPTIVE statistics ,CEPHALOMETRY ,HUMAN growth ,MICE ,ANIMAL experimentation ,SUBSTANCE abuse in pregnancy ,FETAL development ,CRANIOFACIAL abnormalities ,SKULL ,DISEASE risk factors ,DISEASE complications ,FETUS ,PREGNANCY - Abstract
Objective: Develop a model for the study of Electronic Nicotine Device (ENDS) exposure on craniofacial development. Design: Experimental preclinical design followed as pregnant murine dams were randomized and exposed to filtered air exposure, carrier exposure consisting of 50% volume of propylene glycol and vegetable glycine (ENDS Carrier) respectively, or carrier exposure with 20 mg/ml of nicotine added to the liquid vaporizer (ENDS carrier with nicotine). Setting: Preclinical murine model exposure using the SciReq exposure system. Participants: C57BL6 adult 8 week old female pregnant mice and exposed in utero litters. Interventions: Exposure to control filtered air, ENDS carrier or ENDS carrier with nicotine added throughout gestation at 1 puff/minute, 4 h/day, five days a week. Main Outcome Measures: Cephalometric measures of post-natal day 15 pups born as exposed litters. Results: Data suggests alterations to several facial morphology parameters in the developing offspring, suggesting electronic nicotine device systems may alter facial growth if used during pregnancy. Conclusions: Future research should concentrate on varied formulations and exposure regimens of ENDS to determine timing windows of exposures and ENDS formulations that may be harmful to craniofacial development. [ABSTRACT FROM AUTHOR]
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- 2024
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15. Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype–Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
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Jiang, Yinmo, Wu, Bingbing, Zhang, Xi, Yang, Lin, Wang, Sujuan, Li, Huiping, Zhou, Shuizhen, Qian, Yanyan, and Wang, Huijun
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IN vitro studies ,CHILD psychopathology ,RESEARCH funding ,PROBABILITY theory ,FISHER exact test ,PHOSPHATASES ,DESCRIPTIVE statistics ,GENES ,GENE expression ,GENETIC variation ,CRANIOFACIAL abnormalities ,GENETIC mutation ,GENETIC techniques ,GENOTYPES ,PHENOTYPES ,SEQUENCE analysis - Abstract
Background: Neurodevelopmental disorders (NDDs) are a group of diseases that severely affect the physical and mental health of children. The PPP2R5D gene encodes B56δ, the regulatory subunit of protein phosphatase 2A (PP2A). NDDs related to the PPP2R5D gene have recently been defined as Houge–Janssens syndrome 1. Methods: Clinical/whole exome sequencing was performed on approximately 3000 patients with NDDs from 2017 to 2023. In vitro experiments were performed to assess the impairment of variants to protein expression and the assembly of PP2A holoenzyme. The genetic information and phenotypes of the reported patients, as well as patients in this study, were summarized, and the genotype–phenotype relationship was analyzed. The probability of pathogenic missense variants in PPP2R5D was predicted using AlphaMissense (AM), and the relationship between certain phenotype and 3D protein structural features were analyzed. Results: Thirteen new patients carrying twelve PPP2R5D gene variants were detected, including five novel missense variants and one novel frameshift variant. In vitro experiments revealed that the frameshift variant p.H463Mfs*3 resulted in a ~50 kDa truncated protein with lower expression level. Except for E420K and T536R, other missense variants impaired holoenzyme assembly. Furthermore, we found that pathogenic/likely pathogenic (P/LP) variants that have been reported so far were all missense variants and clustered in three conserved regions, and the likelihood of P/LP mutations located in these conserved regions was extremely high. In addition, the macrocephaly phenotype was related to negatively charged residues involved in substrate recruitment. Conclusions: We reported thirteen new patients with PPP2R5D gene variants and expanded the PPP2R5D variant spectrum. We confirmed the pathogenicity of novel variants through in vitro experiments. Our findings in genotype–phenotype relationship provide inspiration for genetic counseling and interpretation of variants. We also provide directions for further research on the mechanism of macrocephaly phenotype. [ABSTRACT FROM AUTHOR]
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- 2024
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16. Radiodiagnostics of standard orthodontic radiographs—dental and extradental incidental findings: Do we see everything we should see?
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Wiechens, Bernhard, Klenke, Daniela, Quast, Anja, Santander, Petra, Skorna, Ida, and Meyer-Marcotty, Philipp
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CRANIOFACIAL abnormalities ,PANORAMIC radiography ,RADIOGRAPHS ,ORTHODONTISTS ,INTERNET surveys - Abstract
Copyright of Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopadie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2024
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17. Reconstruction of oncologic nasal defects using the forehead flap: technical aspects and results.
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Dhaha, Mohamed, Lahmar, Rihab, Jbali, Souheil, Braham, Rim, Methnani, Alia, Dhambri, Sawsen, and Kedous, Skander
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SQUAMOUS cell carcinoma ,SKIN tumors ,AESTHETICS ,HYPERTENSION ,SMOKING ,NASAL tumors ,TREATMENT effectiveness ,RETROSPECTIVE studies ,DESCRIPTIVE statistics ,ULTRAVIOLET radiation ,SURGICAL flaps ,MEDICAL records ,ACQUISITION of data ,RESEARCH methodology ,PLASTIC surgery ,CRANIOFACIAL abnormalities ,BASAL cell carcinoma ,DATA analysis software ,LENGTH of stay in hospitals ,PATIENT satisfaction ,COMORBIDITY ,DIABETES - Abstract
Introduction: Skin cancer frequently hits the nasal pyramid. Reconstruction of the nasal defects of the nasal pyramid after oncologic resection is challenging for plastic surgeons due to the anatomic complexity of the nose. The forehead flap is a pedicled flap used since antiquity in the reconstruction of nasal defects. Methods: We retrospectively reviewed the medical records of 30 patients operated for skin cancer of the nasal pyramid with reconstruction of the skin defect by forehead flap between the years 2008 and 2020. Results: The mean age was 66.3. The sex ratio was 2.75. The tumor mean size of the tumor was 34 mm ranging between 19 and 50 mm. Twenty-nine patients required a second time surgery for flap severing and degreasing. The paramedian forehead flap was used in 20 cases, the "sea gull" flap in 5 cases, the inclined FF in 4 cases, and the island FF in 1 case. Conclusion: Surgical techniques of FF offer good aesthetic results with a lesser morbidity rate. Our retrospective report attests to the reliability of FF as the workhorse for the reconstruction of small and average nasal defects. [ABSTRACT FROM AUTHOR]
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- 2024
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18. Detecting Hearing Loss Through Targeted Surveillance: Risk Registry and Surveillance Timeframe Recommendations.
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Fitzgibbons, E. Jane, Driscoll, Carlie, Traves, Lia, and Beswick, Rachael
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DEAFNESS prevention , *PUBLIC health surveillance , *RISK assessment , *NEWBORN screening , *PREDICTIVE tests , *BACTERIAL meningitis , *IATROGENIC diseases , *AUDITORY perception testing , *MEDICAL protocols , *RESEARCH funding , *MEDICAL errors , *HUMAN services programs , *CONDUCTIVE hearing loss , *LOGISTIC regression analysis , *EVALUATION of human services programs , *PUERPERIUM , *REPORTING of diseases , *AUDIOMETRY , *RETROSPECTIVE studies , *INFECTION , *TREATMENT duration , *FAMILY history (Medicine) , *EVALUATION of medical care , *DESCRIPTIVE statistics , *DIAGNOSIS , *OTOACOUSTIC emissions , *MIDDLE ear , *CHI-squared test , *AGE distribution , *LONGITUDINAL method , *ODDS ratio , *ARTIFICIAL respiration , *BRAIN stem , *HEARING disorders , *ASPHYXIA neonatorum , *CRANIOFACIAL abnormalities , *HEARING , *NEONATAL jaundice , *CONFIDENCE intervals , *PERINATAL period , *PATIENT aftercare , *AUDITORY evoked response , *DISEASE risk factors , *DISEASE complications , *CHILDREN - Abstract
Purpose: The purpose of this study was to inform the revision of a targeted surveillance risk registry by identifying which risk factors predict postnatally identified hearing loss (PNIHL) in children who pass newborn hearing screening and to determine whether hearing surveillance beyond the age of 1 year is warranted. Method: We used retrospective analysis of the audiological outcomes of children born in the state of Queensland, Australia, between January 1, 2010, and December 31, 2019, who passed the newborn hearing screen with risk factors. Results: Approximately one third of children were lost to follow-up and could not be included in the analysis. Risk factors that predicted PNIHL in the analyzed cohort were as follows: syndromes associated with hearing loss, craniofacial anomalies, perinatal infections, and family history of permanent childhood hearing loss. Severe asphyxia did not predict PNIHL but yielded some cases of significant bilateral hearing loss. Hearing loss in children with a history of prolonged ventilation was mild and/or unilateral in nature (except in cases where the hearing loss was due to an unrelated etiology). There were no cases of PNIHL in children with hyperbilirubinemia or neonatal bacterial meningitis. For the risk factors that predicted PNIHL, nearly all hearing losses were detected by 1 year of age, except for children with family history where one quarter of hearing losses had a later onset. Conclusions: The four risk factors recommended for efficient postnatal identification of hearing loss are as follows: syndromes associated with hearing loss, craniofacial anomalies, perinatal infection, and family history of permanent childhood hearing loss. Hearing surveillance through to 1 year old is sufficient except for children with a family history, where a second phase assessment is indicated. Alternative targeted surveillance protocols and models of care are required to minimize loss to follow-up. [ABSTRACT FROM AUTHOR]
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- 2024
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19. Use of a mini balloon microcatheter to facilitate penetration of fine vascular networks and curative embolization in vein of Galen malformations.
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Devarajan, Alex, Schupper, Alexander J., Rossitto, Christina P., Bonet, Jessica M., Sorscher, Michelle, Vasan, Vikram, Morgenstern, Peter F., Ghatan, Saadi, Shigematsu, Tomoyoshi, Berenstein, Alejandro, and Fifi, Johanna T.
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CEREBRAL angiography ,ARTERIOVENOUS malformation ,VASCULAR catheters ,HYDROCEPHALUS ,THERAPEUTIC embolization ,BLOOD vessels ,CATHETERIZATION ,ENDOVASCULAR surgery ,TREATMENT effectiveness ,RETROSPECTIVE studies ,MOVEMENT disorders ,SURGICAL complications ,CEREBRAL arteries ,MEDICAL equipment ,MEDICAL records ,ACQUISITION of data ,CRANIOFACIAL abnormalities ,SPEECH disorders ,BLOOD-vessel abnormalities - Abstract
Background Patients with vein of Galen malformations (VOGMs) can develop fine angiogenic networks with fistulous connections to the precursor of the vein of Galen. In these cases, transarterial embolization (TAE) with liquid embolic agents (LEAs) is challenging due to reflux in the pedicle leading to the network, causing poor penetration. Transvenous approaches carry a risk of hemorrhage from pathologic vasculature. Dual-lumen balloon microcatheters like the Scepter Mini (Microvention, Aliso Viejo, CA) improve distal pedicle access, preventing reflux. Objective Here, we report on the use of the Scepter Mini for TAE of angiogenic VOGM. Methods A single-institution retrospective chart review identified all VOGMs treated with Scepter Mini microcatheters. Clinical data, angioarchitecture, and technical parameters were reviewed. Results 17 Scepter Mini catheters were used in 12 embolization procedures of 7 patients with VOGM at a median age of 2.1 years. Patients presented with hydrocephalus (100%) and gross motor and speech delays (57.1%). Networks developed extra-axially into the subependymal zone fed by posterior choroidal, posterior cerebral, and thalamoperforator arteries. Posterior choroidal branches (n=7/17, 41.2%) were most frequently catheterized to achieve distal access to the network. Embolization with Onyx-18 and significant network penetration occurred in 17/17 uses. Near tip entrapment with LEA cast displacement occurred in 1/17 uses. Another patient experienced postprocedural intraventricular hemorrhage requiring a third ventriculostomy without permanent neurologic deficit. Conclusion The Scepter Mini provided excellent distal access with penetration to the fistula and extra-axial network reduction with few complications. The Scepter Mini provides a means for successful treatment of technically challenging angiogenic VOGM. [ABSTRACT FROM AUTHOR]
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- 2024
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20. Feasibility and Acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) Intervention for Caregivers of Children with Craniofacial Conditions.
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Fladeboe, Kaitlyn M., Stock, Nicola Marie, Heike, Carrie L., Evans, Kelly N., Junkins, Courtney, Stueckle, Laura, O'Daffer, Alison, Rosenberg, Abby R., and Yi-Frazier, Joyce P.
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PSYCHOLOGICAL resilience ,COGNITIVE restructuring therapy ,LIFE ,HEALTH literacy ,STRESS management ,QUALITATIVE research ,GROUP identity ,EVALUATION of human services programs ,QUESTIONNAIRES ,INTERVIEWING ,GOAL (Psychology) ,PARENT attitudes ,UNCERTAINTY ,LONGITUDINAL method ,ATTITUDE (Psychology) ,QUALITY of life ,CRANIOFACIAL abnormalities ,PARENTS of children with disabilities ,PSYCHOLOGY of caregivers ,HEALTH promotion ,SOCIAL support ,PSYCHOSOCIAL factors ,CAREGIVER attitudes ,PATIENT participation - Abstract
Objectives: Few evidence-based psychosocial programs exist within craniofacial care. This study (a) assessed feasibility and acceptability of the Promoting Resilience in Stress Management-Parent (PRISM-P) intervention among caregivers of children with craniofacial conditions and (b) described barriers and facilitators of caregiver resilience to inform program adaptation. Design: In this single-arm cohort study, participants completed a baseline demographic questionnaire, the PRISM-P program, and an exit interview. Participants: Eligible individuals were English-speaking legal guardians of a child <12-years-old with a craniofacial condition. Intervention: PRISM-P included 4 modules (stress-management, goal-setting, cognitive-restructuring, meaning-making) delivered in 2 one-on-one phone or videoconference sessions 1–2 weeks apart. Main Outcome Measures: Feasibility was defined as >70% program completion among enrolled participants; acceptability was defined as >70% willingness to recommend PRISM-P. Intervention feedback and caregiver-perceived barriers and facilitators of resilience were summarized qualitatively. Results: Twenty caregivers were approached and 12 (60%) enrolled. The majority were mothers (67%) of a child <1-year-old diagnosed with a cleft lip and/or palate (83%) or craniofacial microsomia (17%). Of these, 8 (67%) completed PRISM-P and 7 (58%) completed interviews; 4 (33%) were lost-to-follow-up before PRISM-P and 1 (8%) before the interview. Feedback was highly positive, with 100% willing to recommend PRISM-P. Perceived barriers to resilience included uncertainty about their child's health; facilitators included social support, parental identity, knowledge, and control. Conclusions: PRISM-P was acceptable among caregivers of children with craniofacial conditions but not feasible based on program completion rates. Barriers and facilitators of resilience support the appropriateness of PRISM-P for this population and inform adaptation. [ABSTRACT FROM AUTHOR]
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- 2024
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21. A 3-Dimensional Evaluation of the Effects of Unilateral Vertical Mandibular Distraction Osteogenesis on Airway Volume Among Patients With Hemifacial Microsomia.
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Pak, Sarah, Bous, Rany M., Acosta Lenis, Claudia, Kumar, Anand R., and Valiathan, Manish
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MANDIBLE surgery ,THREE-dimensional imaging ,OROPHARYNX ,DATA analysis ,RESPIRATION ,COMPUTED tomography ,STENOSIS ,RETROSPECTIVE studies ,BONE lengthening (Orthopedics) ,GOLDENHAR syndrome ,MEDICAL records ,ACQUISITION of data ,STATISTICS ,INTRACLASS correlation ,NASOPHARYNX ,CRANIOFACIAL abnormalities ,INTER-observer reliability - Abstract
Objective: The aim of this study was to evaluate the volumetric airway changes using three-dimensional images following unilateral vertical mandibular distraction osteogenesis (uVMD) among patients with hemifacial microsomia (HFM). Design: This retrospective study analyzed cone-beam computed tomography (CBCT) scans of patients with HFM at three different timepoints; pretreatment (T0), posttreatment (T1), and at least 6 months post-distraction (T2). The individuals underwent uVMD between December 2018-Januaray 2021. The nasopharyngeal (NP) volume, oropharyngeal (OP) volume, and the area of maximum constriction (MC) were measured. Wilcoxon signed-rank test was used to compare the airway volumes between T0-T1, T1-T2, and T0-T2. Results: Five patients met the inclusion criteria (mean age = 10.4 years; 1 female, 4 males). Intraclass correlation analysis showed excellent interrater reliability (r >.86, P <.001). Posttreatment, the OP airway volume exhibited a significant mean increase of 56% (P =.043) from T0 to T1, but decreased from T1-T2 by 13%. Likewise, the total airway volume presented with a significant mean increase of 48% between T0-T1 (P =.044), and a decrease of 7% from T1-T2. The changes in the NP airway volume and area of MC were not statistically significant (P >.05), but an increase in the mean values were observed. Conclusion: Surgical intervention with uVMD may significantly increase the OP airway volume and the total airway volume among patients with HFM immediately after distraction. However, the statistical significance diminished after six months post-consolidation, but the mean percent change may remain of clinical significance. The NP volume did not seem to show significant changes in response to uVMD. [ABSTRACT FROM AUTHOR]
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- 2024
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22. The Quality and Readability of Online Patient Information on Positional Head Shape Conditions.
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Gutowski, Kristof S., Applebaum, Sarah A., Thomae, Benjamin L., Knight, Karlee C., Chwa, Emily S., and Gosain, Arun K.
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HEALTH information services ,PATIENT education ,INTERNET searching ,STATISTICAL correlation ,READABILITY (Literary style) ,HEAD ,PARENT attitudes ,INFORMATION needs ,DEFORMATIONAL plagiocephaly ,SEARCH engines ,ONE-way analysis of variance ,RESEARCH ,CRANIOFACIAL abnormalities ,QUALITY assurance ,COMPARATIVE studies ,MEDICINE information services - Abstract
Objective: Families increasingly use online resources to acquire medical information about their child's condition with little understanding of the legitimacy of the source of information or of the information itself. We evaluate the quality and readability of online information related to positional head shape conditions and identify unmet needs for healthcare providers to improve online patient education. Design: The search terms "flat head baby," "brachycephaly," and "plagiocephaly" were queried on the Google search engine and the first 20 websites for each were reviewed. Included websites were evaluated for quality using the DISCERN Instrument and readability using the Flesch-Kincaid Reading Grade Level (FKGL) and Flesch Reading Ease Score (FRES). Websites were categorized by upload source and results were compared using one-way ANOVA. Results: 38 websites met inclusion criteria. There was no significant correlation between DISCERN score and Google search rank between the three search terms. Professional organizations provided websites with the highest mean DISCERN score (56.3) and commercial websites with the lowest score (36.6, P =.003), indicating "good" and "poor" quality content, respectively. Readability assessments showed an overall average FKGL of 9.9 and FRES of 54.4, suggesting "fairly difficult". Hospitals provided the most website results and tended to publish lower quality information, yet are the most readable. Conclusions: High quality websites written at an appropriate reading level for the general public are lacking. A review of online resources for positional head shape conditions can be used to derive recommendations to improve the content of online patient education for pediatric healthcare. [ABSTRACT FROM AUTHOR]
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- 2024
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23. Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.
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Paltoglou, George, Ziakas, Nickolas, Chrousos, George P., and Yapijakis, Christos
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PRADER-Willi syndrome ,SKELETAL muscle ,NOONAN syndrome ,DOWN syndrome ,HEALTH ,CEPHALOMETRY ,INFORMATION resources ,PEPTIDE hormones ,STATURE ,22Q11 deletion syndrome ,PARATHYROID hormone ,ACHONDROPLASIA ,TURNER'S syndrome ,FIBROBLAST growth factors ,GROWTH disorders ,CRANIOFACIAL abnormalities ,SYMPTOMS ,CHILDREN - Abstract
Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological centre of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the keywords: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and "Turner syndrome"; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its aetiology. The angular and linear cephalometric measurements differ from the measurements of the average normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusions: The greater part of the existing literature regarding cephalometric measurements in short-statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature should be the focus of future studies. These quantitative data are required to potentially establish cut-off values for reference for genetic testing based on craniofacial phenotypes. [ABSTRACT FROM AUTHOR]
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- 2024
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24. Evaluation of Cervical Spine Curvature and its Relation with Cranial Base in Class I, Cleft and Class III Malocclusion Individuals: A Cross-sectional Analysis
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Dhwani Suchak, Ranjit Kamble, Renuka Talla, and Nishu Agarwal
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cleft palate ,craniofacial abnormalities ,vertebral curvature ,Medicine - Abstract
Introduction: According to the literature, an existing correlation is said to be present between craniocervical and craniofacial morphology. Recent studies have revealed that there are certain variations among the different forms of craniofacial patterns with respect to the morphology of the vertebrae. Since there are very few studies comparing the curvature of the cervical column in relation to the cranial base in Cleft, Class-I and Class-III individuals, this study was carried out. Aim: To provide a comprehensive comparative analysis of the curvature of the cervical vertebral column and its relationship with the cranial base in Class-I, cleft, and Class-III individuals within the Central Indian population. Materials and Methods: In this cross-sectional study conducted at the Department of Orthodontics and Dentofacial Orthopaedics at Sharad Pawar Dental College and Hospital, Sawangi (M).Wardha, Maharashtra, India, patients with skeletal Class-I, Class-III, and Unilateral Cleft Lip and Palate (UCLP) or Bilateral Cleft Lip and Palate (BCLP) in the Central India region were included. The study duration was eight months, from April 2022 to January 2023. The research involves a meticulous examination of 90 individuals, divided into three groups: Class-I individuals (n=30), cleft individuals (n=30), and Class-III individuals (n=30). A comprehensive set of radiographic and cephalometric measurements will be employed to assess cervical vertebral curvature. One-way Analysis of Variance (ANOVA) test was used for analysis. Results: With the exception of Sella-Nasion to Gonion Gnathion (SA-Go-Gn), where the p-value was 0.13, a statistically significant difference between Class-I and Class-III was seen for all angles. For Class-III cases with clefts, every angle revealed a statistically significant difference. Except for SN-Go-Gn (p=0.65), all of the angles revealed a statistically significant difference when compared to Class-I with Cleft, with a p-value
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- 2024
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25. Generalized root agenesis in permanent dentition of a young adolescent patient with rhabdomyosarcoma: a case report
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Saqib Habib, Bibi Fatima, and Farhan Raza Khan
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Chemotherapy ,Craniofacial abnormalities ,Head and neck cancer ,Late effects ,Rhabdomyosarcoma ,Dentistry ,RK1-715 - Abstract
Abstract Background Parameningeal rhabdomyosarcoma (PM-RMS) is a rare and aggressive soft tissue malignancy that primarily occurs in the head and neck region. The standard treatment approach for RMS involves a multimodal therapy regimen, which includes surgery, chemotherapy, and radiotherapy. However, the routine use of radiotherapy and chemotherapy in young patients with RMS in the head and neck region can lead to adverse effects on dental development and thereby, pose a challenge in planning dental intervention. Case presentation This case report outlines the dental and facial developmental consequences in a 13-year-old child, who received chemo-radiotherapeutic intervention at the age of 7 years for the management of PM-RMS. Following treatment, the child exhibited significant dental complications, including arrested root growth and restricted mouth opening. Conclusions This case highlights the necessity for interdisciplinary collaboration between oncologists, dentists, and other healthcare professionals to mitigate the adverse effects on dental health and overall quality of life in patients undergoing chemo-radiotherapy for rhabdomyosarcoma.
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- 2024
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26. Stryker PEEK Customized Implant: A Prospective Post Market Follow Up to Evaluate Safety, Performance and Effectiveness
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Qmed Consulting A/S
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- 2023
27. Clinical Success of Periorbital Craniofacial Implants: Introduction of a Staging System and Treatment Algorithm for Peri-implant Infections.
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Neckel, Norbert, Troeltzsch, Daniel, Zocholl, Dario, Koerdt, Steffen, Motzkus, Yvonne, Trampuz, Andrej, Raguse, Jan-Dirk, Heiland, Max, and Nahles, Susanne
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ANTIBIOTICS ,DENTAL implants ,CRANIOFACIAL abnormalities ,CROSS-sectional method ,PLASTIC surgery ,INFECTION ,TREATMENT effectiveness ,DESCRIPTIVE statistics ,PROSTHESIS-related infections ,PERI-implantitis ,ALGORITHMS ,ORBITAL diseases ,SUCCESS - Abstract
Purpose: To compare different assessment methods for peri-implant inflammation to evaluate potential risk factors and to generate a comprehensive algorithm for clinical staging, treatment, and evaluation of success in periorbital implants. Materials and Methods: In this hospital-based cross-sectional study, 111 periorbital implants in 40 patients with orbital defects after exenteration were clinically analyzed. Skin reaction according to Holgers (SRH), probing depth (PD), and sulcus fluid flow rate (SFFR), as well as patient-specific data, such as age, sex, smoking and irradiation status, cleaning agent and frequency, defect etiology, implant system, implant location, time span since implantation, and type of retention, were assessed and statistically analyzed via mixed-model calculations. Success was defined as the absence of necessary invasive or antibiotic treatment. Results: A total of 62 implants (55.9%) had been placed in male patients and 49 implants (44.1%) in female patients. There were 18 patients (52 implants, 46.8%) who had received radiotherapy. Mean inflammation levels were low. PD and SFFR were highly correlated, whereby PD increased significantly with time after implantation. SRH = 2 was correlated significantly with higher PD and SFFR values. While 80% of the implants did not require invasive or antibiotic treatment, 45% of the patients presented at least one affected implant. The data gathered allowed for the definition of a staging and treatment algorithm for peri-implantitis in periorbital implants. No patient-specific factors showed a significant impact on peri-implant inflammation. Conclusion: Periorbital implant restorations with magnetic abutments are a safe treatment option for orbital defects. PD and SRH were proven to be valuable quick assessment tools and should be complemented by SFFR, if inconclusive. The established parameters for the staging of peri-implant tissue health and clinical success can serve as a viable tool for reliable and comparable assessment in clinical and scientific settings. Further studies are necessary to assess the suggested treatment algorithm. [ABSTRACT FROM AUTHOR]
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- 2023
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28. Do symptoms and signs of temporomandibular disorders have an association with breathing pattern: a cross-sectional study on Turkish children and adolescents
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Mehmed Taha Alpaydin, Tugce Alpaydin, and Damla Torul
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Sleep apnea syndromes ,Craniofacial abnormalities ,Pediatric ,Dentistry ,RK1-715 - Abstract
Abstract Background This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and mouth breathing (MB) by evaluating along with other risk factors, in a Turkish subpopulation of children and adolescence. Methods This study was conducted with the archival data of the patients who applied with orthodontic complaints. Data on demographic characteristics, family-related factors, systemic status, occlusion, breathing patterns, oral habits, and bruxism were retrieved from the archival records. Results Nine hundred forty-five children and adolescents with a mean age of 14.82 ± 2.06 years were included in the study. Of the participants, 66% were girls, 60.4% were delivered by C-section, 8.4% of the participants had at least one systemic disease, 9.2% of the participants had allergy, and 4.3% of the participants’ parents were divorced, 18.7% have an oral habit, 6.6% have bruxism, 29.8% have malocclusion and 14.1% have MB. Eight-point-five percent of participants have signs/symptoms of TMD. Among them 2.9% have pain, 3.7% have joint sounds, 1.4% have deflection, and 3.9% have deviation. Evaluation of the risk factors revealed a significant relation between the signs/symptoms of TMD and bruxism (OR 8.07 95% CI 4.36–14.92), gender (OR 2.01 95% CI 1.13–3.59), marital status of parents (OR 2.62 95% CI 1.07–6.42), and MB (OR 3.26 95% CI 1.86–5.71). Conclusions According to the study’s findings, girls and those with bruxism, divorced parents, and MB behavior are more likely to have signs/symptoms of TMD. Age found to have significant effect on the occurrence of the signs/symptoms of TMD alone, but together with other factors the effect of the age is disappeared. Early screening and intervention of MB as well as the signs/symptoms of TMD can help to limit detrimental effects of these conditions on growth, and quality of life of children and adolescents.
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- 2024
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29. Do symptoms and signs of temporomandibular disorders have an association with breathing pattern: a cross-sectional study on Turkish children and adolescents.
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Alpaydin, Mehmed Taha, Alpaydin, Tugce, and Torul, Damla
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TEMPOROMANDIBULAR disorders ,RISK assessment ,BRUXISM ,CROSS-sectional method ,DESCRIPTIVE statistics ,ORTHODONTIC appliances ,ODDS ratio ,QUALITY of life ,SLEEP apnea syndromes ,CONFIDENCE intervals ,MEDICAL screening ,CRANIOFACIAL abnormalities ,RESPIRATORY mechanics ,SYMPTOMS ,ADOLESCENCE ,CHILDREN - Abstract
Background: This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and mouth breathing (MB) by evaluating along with other risk factors, in a Turkish subpopulation of children and adolescence. Methods: This study was conducted with the archival data of the patients who applied with orthodontic complaints. Data on demographic characteristics, family-related factors, systemic status, occlusion, breathing patterns, oral habits, and bruxism were retrieved from the archival records. Results: Nine hundred forty-five children and adolescents with a mean age of 14.82 ± 2.06 years were included in the study. Of the participants, 66% were girls, 60.4% were delivered by C-section, 8.4% of the participants had at least one systemic disease, 9.2% of the participants had allergy, and 4.3% of the participants' parents were divorced, 18.7% have an oral habit, 6.6% have bruxism, 29.8% have malocclusion and 14.1% have MB. Eight-point-five percent of participants have signs/symptoms of TMD. Among them 2.9% have pain, 3.7% have joint sounds, 1.4% have deflection, and 3.9% have deviation. Evaluation of the risk factors revealed a significant relation between the signs/symptoms of TMD and bruxism (OR 8.07 95% CI 4.36–14.92), gender (OR 2.01 95% CI 1.13–3.59), marital status of parents (OR 2.62 95% CI 1.07–6.42), and MB (OR 3.26 95% CI 1.86–5.71). Conclusions: According to the study's findings, girls and those with bruxism, divorced parents, and MB behavior are more likely to have signs/symptoms of TMD. Age found to have significant effect on the occurrence of the signs/symptoms of TMD alone, but together with other factors the effect of the age is disappeared. Early screening and intervention of MB as well as the signs/symptoms of TMD can help to limit detrimental effects of these conditions on growth, and quality of life of children and adolescents. [ABSTRACT FROM AUTHOR]
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- 2024
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30. Floating–Harbor Syndrome: A Systematic Literature Review and Case Report.
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Dobrzynski, Wojciech, Stawinska-Dudek, Julia, Moryto, Natalia, Lipka, Dominika, and Mikulewicz, Marcin
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LITERATURE reviews , *FIBRODYSPLASIA ossificans progressiva , *INTELLECTUAL disabilities , *SHORT stature , *GENETIC disorders , *THERAPEUTICS - Abstract
Floating–Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating–Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case. [ABSTRACT FROM AUTHOR]
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- 2024
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31. The Resolution of Obstructive Sleep Apnea in a Patient with Goiter after Total Thyroidectomy: A Case Report.
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Ouahchi, Yacine, Mejbri, Maha, Mediouni, Azza, Hedhli, Abir, Ouahchi, Ines, El Euch, Mounira, Toujani, Sonia, and Dhahri, Besma
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- *
SLEEP apnea syndromes , *GOITER , *THYROIDECTOMY , *CONTINUOUS positive airway pressure , *CRANIOFACIAL abnormalities , *THYROID diseases - Abstract
Obstructive sleep apnea (OSA) may be linked to various factors that narrow the upper airways, such as obesity, adenotonsillar hypertrophy and craniofacial abnormalities. Hypothyroidism has also been described as a risk factor for OSA. However, the implication of goiter independently of thyroid function in the occurrence of OSA remains unclear. We present the case of a 66-year-old woman with a large compressive multinodular goiter for whom total thyroidectomy was indicated. During the preoperative assessment, the patient had a body mass index (BMI) of 37.8 kg/m2 with symptoms of OSA. Respiratory polygraphy confirmed the diagnosis of severe OSA (apnea–hypopnea index (AHI) = 32), and treatment with continuous positive airway pressure (CPAP) was initiated prior to thyroid surgery. Surprisingly, after total thyroidectomy, OSA symptoms disappeared, and the patient abandoned CPAP therapy. Subsequent respiratory polygraphy after thyroidectomy showed a decrease in AHI to a normal value (AHI < 5). Interestingly, there was no change in BMI or other factors explaining the resolution of OSA, except for thyroidectomy. This case report suggests that goiter can be considered a risk factor for OSA. However, prospective studies are needed to accurately assess the effects of goiter on the occurrence of OSA according to its dimensions and local extension. [ABSTRACT FROM AUTHOR]
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- 2024
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32. Genetics Corner: A Consultation for Familial Polysyndactyly.
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Ramanathan, Subhadra and Clark, Robin D.
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FINGER abnormalities , *ACROCEPHALOSYNDACTYLIA type II , *HAND abnormalities , *FOOT abnormalities , *FAMILY history (Medicine) , *GENETIC variation , *SYNDACTYLY , *X-rays , *CRANIOFACIAL abnormalities , *GENETIC mutation , *GENETICS , *GENETIC testing - Abstract
The article focuses on a 7-month-old female with preaxial polydactyly and syndactyly in both hands and feet, alongside a positive family history of similar conditions in her father, indicating a potential genetic syndrome. Topics include the clinical examination findings, imaging studies revealing specific skeletal anomalies, and the genetic testing confirming Greig cephalopolysyndactyly syndrome (GCPS) due to a pathogenic variant in the GLI3 gene, inherited in an autosomal dominant manner.
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- 2024
33. Secondary metopic craniosynostosis after posterior cranial decompression in cloverleaf skull deformity.
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Chaisrisawadisuk, Sarut, Khampalikit, Inthira, Chankaew, Ekawut, and Moore, Mark H.
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BRACHYCEPHALY , *CRANIAL sutures , *SKULL , *CRANIOSYNOSTOSES , *CALVARIA , *NEURAL development , *THYROID eye disease - Abstract
Cloverleaf skull deformity or Kleeblattschadel syndrome is a severe condition where multiple cranial sutures are absent and prematurely fused, leading to a trilobate head shape. The remaining open sutures or fontanelles compensate for rapid brain expansion, while the constricted fused calvarium restricts brain growth and results in increased intracranial pressure. Recent data show that early posterior cranial and foramen magnum decompression positively affects infants with cloverleaf skulls. However, long-term sequelae are still rarely discussed. We hereby report a child who developed secondary metopic craniosynostosis after posterior cranial decompression, which required a front-orbital advancement and cranial remodelling as a definitive procedure. [ABSTRACT FROM AUTHOR]
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- 2024
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34. Management of scalp wounds.
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Elzagh, Alaa, Khudr, Jamal, Alnobani, Omar, Karangura, Adrian, and Choukairi, Fouzia
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TRAUMA surgery ,WOUND healing ,LATISSIMUS dorsi (Muscles) ,SKIN grafting ,AESTHETICS ,SKIN tumors ,BURNS & scalds ,TREATMENT effectiveness ,AGE distribution ,DECISION making in clinical medicine ,TRAUMATOLOGY diagnosis ,SURGICAL flaps ,NEGATIVE-pressure wound therapy ,SCALP ,PLASTIC surgery ,CRANIOFACIAL abnormalities ,COMORBIDITY ,SUTURES - Abstract
Scalp and forehead region reconstruction is a complex clinical area, typically necessitated by conditions like skin cancers, intracranial lesions, trauma and burns. Various reconstructive techniques exist, from primary closure upscaling to free tissue transfer. Reconstructive options are largely determined by the size and location of the defects, as well as other factors such as age and comorbidities. Preserving natural hair patterns and utilising native scalp tissue, whenever possible, are essential for achieving aesthetic success. This article provides a concise overview of scalp wound reconstruction, emphasising the advantages and limitations of each option. [ABSTRACT FROM AUTHOR]
- Published
- 2024
35. Pediatric Medical Traumatic Stress in Individuals With Craniofacial Conditions.
- Author
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Crerand, Canice E., Billaud Feragen, Kristin, Johns, Alexis L., Umbaugh, Hailey, McClinchie, Madeline, Drake, Amelia F., Heike, Carrie L., Yi-Frazier, Joyce P., and Stockg, Nicola M.
- Subjects
POST-traumatic stress disorder ,PSYCHOLOGICAL resilience ,ATTITUDES toward illness ,PSYCHOLOGICAL distress ,EMOTIONS ,ANXIETY ,PEDIATRICS ,ATTITUDES of medical personnel ,CRANIOFACIAL abnormalities ,PSYCHOLOGY of caregivers ,MEDICAL screening ,WELL-being ,MENTAL depression ,CHILDREN - Abstract
Purpose: This article reviews the literature focused on the psychological effects of craniofacial care for patients and their families. It provides an overview of pediatric medical traumatic stress (PMTS) associated with craniofacial conditions and related care, along with a review of its risk and protective factors. Findings from studies of PMTS in craniofacial populations are also reviewed. Conclusions: The article concludes with strategies for identifying, addressing, and preventing medical traumatic stress in the context of craniofacial care. Specific implications for speech-language pathologists are also shared with respect to ways of minimizing risks for medical traumatic stress in craniofacial care. Future directions are also delineated and include strategies to improve screening and support for patients with craniofacial conditions and their families, along with the development of interventions aimed at increasing resilience. [ABSTRACT FROM AUTHOR]
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- 2024
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36. Psychosocial Barriers to Completion of Speech Home Exercise Programs.
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Torres, Jennifer, Gayner, Sydney, Aceste, Jessica, and Lico, Margaret
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MENTAL health ,HUMAN services programs ,EXERCISE therapy ,PARENT attitudes ,DESCRIPTIVE statistics ,FAMILY attitudes ,MARITAL status ,HOME rehabilitation ,CRANIOFACIAL abnormalities ,SOCIODEMOGRAPHIC factors ,SPEECH therapy ,PATIENTS' attitudes ,CLEFT palate - Abstract
Purpose: Home exercise programs (HEPs) are provided to patients to maximize retention and generalization of the skills learned during ongoing speech therapy. Unfortunately, psychosocial barriers can lead to inconsistent implementation of speech HEPs, but currently, minimal research exists in identifying these factors. This study aims to ascertain the barriers involved in neglecting the implementation of speech HEPs within the cleft and craniofacial population. Method: Respondents answered a series of questions related to demographics (e.g., ethnicity, diagnosis), speech services (e.g., frequency, additional services), and psychosocial barriers (e.g., mental health of parent, patient motivation). Results: Findings demonstrated that 88% of the families in this study experienced psychosocial barriers. Fifteen out of the 17 respondents were mothers (88%), whose marriage status included married (70.59%), single (23.53%), and widowed (5.88%). The majority (59% of caregivers) reported completing assigned speech HEPs less than 75% of the time. Conclusions: Given the findings of this preliminary study, future studies can further assess the psychosocial barriers and their relationship to demographic information. This information will be useful in finding strategies to promote follow-through of HEP implementation in the future. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
37. Reconstruction of Defects of the Cranial Vault.
- Author
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Nikolopoulou, Andriana, Dontas, Ismene, Chronopoulos, Efstathios, and Zafeiris, Christos
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WOUNDS & injuries ,AUTOGRAFTS ,HOMOGRAFTS ,XENOGRAFTS ,BIOMEDICAL materials ,CRANIOFACIAL abnormalities ,PLASTIC surgery ,WOUND care ,SKULL surgery - Abstract
Defects of the cranial vault can be congenital or acquired. Congenital defects include syndromic and nonsyndromic. Acquired defects include defects from tumor, infection and trauma, which can cause loss of the calvarium due to direct trauma or by craniectomy procedure. The diagnostic approach for such cases includes physical examination and imaging techniques (such as plain radiographs, CT, MRI, and ultrasound). The method of reconstruction of cranial defects is tailor made to each individual patient. The method as well as the graft material is based on the patient's overall disease state, long-term prognosis, and medical comorbidities. Reconstruction of these cranial defects has been attempted with the use of different materials which include autografts, allografts, xenografts and alloplastic materials. The reconstruction of cranial defects requires a tailored approach based on the patient's overall disease state, long-term prognosis, and medical comorbidities. Autogenous grafts offer advantages such as integration, vascularity, and lower risk of infection, but have drawbacks including resorption. Allografts, xenografts and alloplastic biomaterials provide alternative options for reconstruction, but there is no ideal material that fulfils all characteristics. The choice of graft material should consider factors such as age, sex, size, and site of the defect. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
38. Back to the Roots: Reconstructing Large and Complex Cranial Defects using an Image-based Statistical Shape Model.
- Author
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Li, Jianning, Ellis, David G., Pepe, Antonio, Gsaxner, Christina, Aizenberg, Michele R., Kleesiek, Jens, and Egger, Jan
- Subjects
- *
STATISTICAL models , *HUMAN anatomical models , *COMPUTER-aided design , *QUALITATIVE research , *QUANTITATIVE research , *DESCRIPTIVE statistics , *ARTIFICIAL neural networks , *PLASTIC surgery , *CRANIOFACIAL abnormalities , *SKULL , *COMPARATIVE studies , *PROSTHESIS design & construction - Abstract
Designing implants for large and complex cranial defects is a challenging task, even for professional designers. Current efforts on automating the design process focused mainly on convolutional neural networks (CNN), which have produced state-of-the-art results on reconstructing synthetic defects. However, existing CNN-based methods have been difficult to translate to clinical practice in cranioplasty, as their performance on large and complex cranial defects remains unsatisfactory. In this paper, we present a statistical shape model (SSM) built directly on the segmentation masks of the skulls represented as binary voxel occupancy grids and evaluate it on several cranial implant design datasets. Results show that, while CNN-based approaches outperform the SSM on synthetic defects, they are inferior to SSM when it comes to large, complex and real-world defects. Experienced neurosurgeons evaluate the implants generated by the SSM to be feasible for clinical use after minor manual corrections. Datasets and the SSM model are publicly available at https://github.com/Jianningli/ssm. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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39. Effects of acute normovolemic hemodilution and allogeneic blood transfusion on postoperative complications of oral and maxillofacial flap reconstruction: a retrospective study.
- Author
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Li, Wenhao, Li, Xueer, Chen, Yanhong, Li, Yanling, Chen, Rui, Kang, Ziqin, Huang, Zhiquan, and Zhao, Yili
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ORAL surgery ,BODY mass index ,AUDIOLOGY ,SURGICAL blood loss ,TREATMENT effectiveness ,RETROSPECTIVE studies ,DESCRIPTIVE statistics ,FIBRIN fibrinogen degradation products ,SURGICAL complications ,ODDS ratio ,HEMODILUTION ,BLOOD transfusion ,PLASTIC surgery ,CRANIOFACIAL abnormalities ,CONFIDENCE intervals ,EVALUATION - Abstract
Objective: Patients undergoing oral and maxillofacial flap reconstruction often need blood transfusions due to massive blood loss. With the increasing limitations of allogeneic blood transfusion (ABT), doctors are considering acute normovolemic hemodilution (ANH) because of its advantages. By comparing the differences in the (Δ) blood indices and postoperative complications of patients receiving ABT or ANH during the reconstruction and repair of oral and maxillofacial tumor flaps, this study's purpose was to provide a reference for the clinical application of ANH. Methods: The clinical data of 276 patients who underwent oral and maxillofacial flap reconstruction from September 25, 2017, to October 11, 2021, in the Department of Oral and Maxillofacial Surgery, Sun Yat-sen Memorial Hospital, were retrospectively analyzed. According to the intraoperative blood transfusion mode, the patients were divided into two groups: ABT and ANH. The differences in the (Δ) blood indices and the incidence of postoperative complications between the groups were analyzed. Results: Among the 276 patients who had ANH (124/276) and ABT (152/276), there were no differences in (Δ) Hb, (Δ) PT, or (Δ) FIB (P > 0.05), while (Δ) WBC, (Δ) PLT, (Δ) APTT and (Δ) D-dimer were significantly different (P < 0.05). The blood transfusion method was not an independent factor for flap crisis (P > 0.05). The wound infection probability in patients with high post-PTs was 1.953 times greater than that in patients with low post-PTs (OR = 1.953, 95% CI: 1.232 ∼ 3.095, P = 0.004). A normal or overweight BMI was a protective factor for pulmonary infection, and the incidence of pulmonary infection in these patients was only 0.089 times that of patients with a low BMI (OR = 0.089, 95% CI: 0.017 ∼ 0.462). Moreover, a high ASA grade promoted the occurrence of pulmonary infection (OR = 6.373, 95% CI: 1.681 ∼ 24.163). The blood transfusion mode (B = 0.310, β = 0.360, P < 0.001; ANH: ln hospital stay = 2.20 ± 0.37; ABT: ln hospital stay = 2.54 ± 0.42) improved the length of hospital stay. Conclusion: Preoperative and postoperative blood transfusion (Δ) Hb, (Δ) PT, and (Δ) FIB did not differ; (Δ) WBC, (Δ) PLT, (Δ) APTT, and (Δ) D-dimer did differ. There was no difference in the effects of the two blood transfusion methods on flap crisis, incision infection or lung infection after flap reconstruction, but ANH resulted in a 3.65 day shorter average hospital stay than did ABT. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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40. Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
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Nagata, Namiki, Kurosaka, Hiroshi, Higashi, Kotaro, Yamaguchi, Masaya, Yamamoto, Sayuri, Inubushi, Toshihiro, Nagata, Miho, Ishihara, Yasuki, Yonei, Ayumi, Miyashita, Yohei, Asano, Yoshihiro, Sakai, Norio, Sakata, Yasushi, Kawabata, Shigetada, and Yamashiro, Takashi
- Subjects
CRANIOFACIAL abnormalities ,JAPANESE people ,NONSENSE mutation ,HUMAN abnormalities ,CLEFT palate ,BRACHYCEPHALY - Abstract
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities. [ABSTRACT FROM AUTHOR]
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- 2024
- Full Text
- View/download PDF
41. Deciphering the function of the fifth class of Gα proteins: regulation of ionic homeostasis as unifying hypothesis.
- Author
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Abu Obaid, Asmaa, Ivandic, Ivan, and Korsching, Sigrun I.
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- *
G protein coupled receptors , *CELL physiology , *G proteins , *CRANIOFACIAL abnormalities , *FRAMESHIFT mutation , *EGG incubation , *HOMEOSTASIS , *ADULT development - Abstract
Trimeric G proteins transduce signals from a superfamily of receptors and each G protein controls a wide range of cellular and systemic functions. Their highly conserved alpha subunits fall in five classes, four of which have been well investigated (Gs, Gi, G12, Gq). In contrast, the function of the fifth class, Gv is completely unknown, despite its broad occurrence and evolutionary ancient origin (older than metazoans). Here we show a dynamic presence of Gv mRNA in several organs during early development of zebrafish, including the hatching gland, the pronephros and several cartilage anlagen, employing in situ hybridisation. Next, we generated a Gv frameshift mutation in zebrafish and observed distinct phenotypes such as reduced oviposition, premature hatching and craniofacial abnormalities in bone and cartilage of larval zebrafish. These phenotypes could suggest a disturbance in ionic homeostasis as a common denominator. Indeed, we find reduced levels of calcium, magnesium and potassium in the larvae and changes in expression levels of the sodium potassium pump atp1a1a.5 and the sodium/calcium exchanger ncx1b in larvae and in the adult kidney, a major osmoregulatory organ. Additionally, expression of sodium chloride cotransporter slc12a3 and the anion exchanger slc26a4 is altered in complementary ways in adult kidney. It appears that Gv may modulate ionic homeostasis in zebrafish during development and in adults. Our results constitute the first insight into the function of the fifth class of G alpha proteins. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
42. Growth characteristics and classification systems of hemifacial microsomia: a literature review.
- Author
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Huh, Joonyoung, Park, Ji-Song, Sodnom-Ish, Buyanbileg, and Yang, Hoon Joo
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GOLDENHAR syndrome ,LITERATURE reviews ,FACIAL bones ,CRANIOFACIAL abnormalities ,BONE growth ,FACIAL pain ,FACIAL injuries - Abstract
Background: Hemifacial microsomia is characterized by the hypoplasia of the mandible and temporomandibular joint, involving a variety of abnormalities of the craniofacial area. Since it gradually worsens as patients grow, it is necessary to understand the characteristics of facial bone growth and facial deformity in hemifacial microsomia patients in order to determine appropriate treatment timing and treatment methods. Main body: Appropriate classification of hemifacial microsomia would facilitate accurate diagnosis, selection of treatment methods, and prognosis prediction. Therefore, in this article, we review previously published hemifacial microsomia classification and provide an overview of the growth of the facial skeleton and the characteristics of hemifacial microsomia-related facial deformities. The OMENS system is the most comprehensive classification method based on the characteristics of hemifacial microsomia deformity, but it needs to be improved to include malar/midface abnormalities and nerve involvement. In hemifacial microsomia, growth is progressing on the affected side, but to a lesser degree than the unaffected side. Therefore, surgical intervention in growing patients should be performed selectively according to the severity of deformity. Conclusion: Understanding growth patterns is important to develop appropriate treatment protocols for correcting asymmetry in adult patients and to minimize secondary anomalies in growing patients. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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43. Early swallowing training after free flap surgery in oral cancer: A randomized controlled trial.
- Author
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Wu, Hong‐Yun, Shan, Xiao‐Feng, Cai, Zhi‐Gang, Zhang, Jing, Li, Pei‐Jun, Zhang, Lei, and Yang, Yue
- Subjects
- *
ORAL surgery , *WEIGHT loss , *MOUTH tumors , *THERAPEUTICS , *RESEARCH funding , *NASOENTERAL tubes , *SENSORIMOTOR integration , *STATISTICAL sampling , *TREATMENT effectiveness , *RANDOMIZED controlled trials , *MEDICAL device removal , *DESCRIPTIVE statistics , *CANCER patients , *SURGICAL flaps , *SURGICAL complications , *INTUBATION , *QUALITY of life , *NUTRITIONAL status , *PLASTIC surgery , *CRANIOFACIAL abnormalities , *DEGLUTITION , *COMPARATIVE studies , *REHABILITATION - Abstract
Objective: To explore the effect of early swallowing training on postoperative outcomes of patients who had undergone oral cancer surgery plus free flap reconstruction. Subjects and Methods: In this prospective, randomized controlled trial, 121 patients who had undergone oral cancer surgery plus free flap reconstruction were randomly assigned to the control (n = 59) or intervention group (n = 62). The control group underwent routine nursing measures. The intervention group received swallowing training on the sixth postoperative day. On the 15th day and 1 month after surgery, the swallowing function (Mann Assessment of Swallowing Ability‐Oral Cancer [MASA‐OC] score), weight loss rate, time of nasogastric tube removal, and quality of life were evaluated. Results: Patients in the intervention group had higher MASA‐OC scores and better weight loss rates than those in the control group on the 15th day (MASA‐OC: p = 0.014, weight loss: p < 0.001) and 1 month (both p < 0.001) after surgery. The time of nasogastric tube removal and the quality of life was statistically significant between groups (p < 0.001). Conclusion: Early swallowing training improves the swallowing function, nutritional status, and quality of life and shortens the indwelling time of nasogastric tube of patients who have undergone oral cancer surgery plus free flap reconstruction. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
44. Efficacy of Child Abuse Evaluations for Infants With Possible Subdural Hemorrhage Identified on Cranial Ultrasound Completed for Macrocephaly.
- Author
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Jude, Gabrielle, Slingsby, Brett, Cassese, John A., Schroeder, Christian, Moore, Jessica, and Barron, Christine
- Subjects
- *
DISEASE risk factors , *RISK assessment , *CEREBRAL cortex abnormalities , *INFANT mortality , *CHILD abuse , *NEURAL development , *RETROSPECTIVE studies , *SUBDURAL hematoma , *CRANIOFACIAL abnormalities , *HEAD injuries , *SYMPTOMS , *CHILDREN - Abstract
Abusive head trauma (AHT) is a significant cause of morbidity and mortality for infants. Determining when to pursue a complete physical abuse evaluation can be difficult, especially for nonspecific findings or when a child appears clinically well. This retrospective study of 7 cases sought to describe the presentation, evaluation, and diagnoses for infants with abnormal subdural collections identified on cranial ultrasound for macrocephaly, and to determine how frequently AHT is diagnosed. The results of this study showed that while each patient presented due to asymptomatic macrocephaly, the extent of the workup varied greatly. In addition, no infants had suspicious injuries for abuse during the initial evaluation or the year following. In summary, among the 7 patients seen for asymptomatic macrocephaly with possible subdural hemorrhage, there were very inconsistent child abuse workups. There needs to be a standardized clinical guideline for this specific patient population involving a child abuse pediatric evaluation. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
45. Three-dimensional geometric analysis of facial symmetry in skeletal class I individuals.
- Author
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Celik, Nihal Gurlek, Akman, Burcu, and Koca, Rabia
- Subjects
GENDER differences (Psychology) ,MORPHOLOGY ,CRANIOFACIAL abnormalities ,INVERSE relationships (Mathematics) ,SYMMETRY (Biology) ,MORPHOMETRICS - Abstract
Copyright of Anatolian Clinic Journal of Medical Sciences is the property of Hayat Saglik ve Sosyal Hizmetler Vakfi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2024
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46. Invited Sessions at ACPA's 2024 Annual Meeting.
- Subjects
NONPROFIT organizations ,MEETINGS ,CONFERENCES & conventions ,CRANIOFACIAL abnormalities ,CLEFT palate - Abstract
The article focuses on presentations at ACPA's 2024 Annual Meeting, covering diverse topics such as innovative techniques for cleft rhinoplasty, novel methods for nasal aesthetic analysis, and advancements in digital workflow for nasoalveolar molding fabrication. It highlight the importance of improving surgical outcomes, enhancing preoperative planning, and leveraging technology for more effective cleft care interventions.
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- 2024
- Full Text
- View/download PDF
47. Stakeholders' Views on Information Needed in a Patient Decision Aid for Microtia Reconstruction.
- Author
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Ronde, E.M., van de Lücht, Veronique A.P., Lachkar, N., Ubbink, Dirk T., and Breugem, Corstiaan C.
- Subjects
QUALITATIVE research ,CONSUMER attitudes ,HEALTH ,INFORMATION resources ,QUANTITATIVE research ,DECISION making ,DESCRIPTIVE statistics ,THEMATIC analysis ,RESEARCH methodology ,PATIENT decision making ,PLASTIC surgery ,CRANIOFACIAL abnormalities ,STAKEHOLDER analysis ,PATIENT participation ,EAR surgery - Abstract
Objective: To assess which information about microtia and the possible reconstructive options health care providers (HCPs), patients and parents believe should be included in a patient decision aid (PtDA). Design: A mixed-methods study comprised of an online survey of HCPs and focus group discussions with patients and parents. Participants: Survey respondents were members of the International Society for Auricular Reconstruction (ISAR). Focus group participants were patients with microtia and their parents, recruited through the microtia outpatient clinic at Amsterdam UMC, and through a Dutch patient organization for cleft and craniofacial conditions. Methods: An online, investigator-made survey was sent to ISAR members in December 2021. Semi-structured focus group discussions were held in February 2022. Quantitative results were summarized, and qualitative results were thematically grouped. Results: Thirty-two HCPs responded to the survey (response rate 41%). Most respondents (n = 24) were plastic surgeons, who had a median of 15 years of experience (IQR: 7-23 years). Two focus groups were held with a total of five patients and two parents. HCPs, patients and parents generally agreed on the information needed in a PtDA, emphasizing the importance of realistic expectation management. Patients and parents also considered psychosocial and functional outcomes, patient experiences, as well as patients' involvement in decision-making important. Conclusions: A PtDA for microtia reconstruction should target all patients with microtia, and include information on at least technique-related information, expected esthetic results, possible adverse effects, psychosocial and functional outcomes and patient experiences. Preference eliciting questions should be developed for both pediatric patients and their parents. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
48. Utility of Screening for Obstructive Sleep Apnea with the Pediatric Sleep Questionnaire (PSQ) in Children with Craniofacial Anomalies.
- Author
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Solis, Roberto N., Aulakh, Sukhkaran S., Velazquez-Castro, Oscar S., Farber, Nicole I., Olarewaju, Adebola M., Nandalike, Kiran, Tollefson, Travis T., Senders, Craig W., and Funamura, Jamie L.
- Subjects
STATISTICAL correlation ,QUESTIONNAIRES ,RESEARCH methodology evaluation ,TONSILLECTOMY ,RETROSPECTIVE studies ,TERTIARY care ,DESCRIPTIVE statistics ,CHROMOSOME abnormalities ,PEDIATRICS ,LONGITUDINAL method ,ADENOIDECTOMY ,SLEEP apnea syndromes ,RESEARCH ,CRANIOFACIAL abnormalities ,MEDICAL screening ,POLYSOMNOGRAPHY ,COMPARATIVE studies ,SENSITIVITY & specificity (Statistics) ,CLEFT palate ,EVALUATION ,DISEASE complications ,CHILDREN - Abstract
Objective: To determine the accuracy of the Pediatric Sleep Questionnaire (PSQ) as a screening tool for obstructive sleep apnea in children with craniofacial anomalies. Design: Retrospective cohort study. Setting: Multidisciplinary cleft and craniofacial clinic at a tertiary care center. Patients: Children with craniofacial anomalies 2 to ≤18 years of age who both completed a PSQ screen and underwent polysomnography (PSG) without interval surgery. Main outcome measures: Sensitivity and specificity of the PSQ in detecting an obstructive apnea-hypopnea index (AHI) ≥ 5 events/hour. Results: Fifty children met study criteria, with 66% (n = 33) having an associated syndrome. Mean patient age at time of PSQ was 9.6 + 4.0 years. Overall, 33 (64%) screened positive on the PSQ, while 20 (40%) had an AHI ≥ 5. The sensitivity and specificity for identifying AHI ≥ 5 was 70% and 40%, respectively. With subgroup analysis, the sensitivity and specificity were higher (100% and 50%) in children with non-syndromic palatal clefting but lower (65% and 31%) in children with a syndrome or chromosomal anomaly. There was no correlation detected between PSQ score and AHI severity (p = 0.25). The mean obstructive AHI in the study population was 10.1 ± 22.7 despite 44% (n = 22) undergoing prior adenotonsillectomy. Conclusions: The PSQ was less sensitive and specific in detecting an AHI ≥ 5 in children with craniofacial anomalies than in a general population, and particularly poor in for children with syndrome-associated craniofacial conditions. Given the high prevalence of OSA in this patient population, a craniofacial-specific validated screening tool would be beneficial. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
49. Fibrodysplasia Ossificans Progressiva: A Case Report with Pseudo-Ankylosis of the Temporomandibular Joint.
- Author
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Chaisrisawadisuk, Sarut, Oliver, Kelly J., Constantine, Sarah, Azzopardi, Jonathan, Anderson, Peter J., and Moore, Mark H.
- Subjects
FIBRODYSPLASIA ossificans progressiva ,TEMPOROMANDIBULAR joint ,RARE diseases ,ANKYLOSIS ,TREATMENT effectiveness ,METAPLASTIC ossification ,QUALITY of life ,DENTAL extraction - Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare condition characterized by progressive heterotopic ossifications and congenital hallux valgus deformities. The common underlying genetic cause is an ACVR1 mutation, resulting in altered bone morphogenetic protein (BMP) regulation. Trauma and/or minor procedures aggravate the abnormal bony formation in soft tissues. This report presents a 3-year-old child with this condition who presented pseudo-ankylosis of the temporomandibular joint (TMJ) after minor craniofacial trauma. Abnormal ossification in the medial pterygoid muscle was identified as the causative abnormality for the presentation with trismus. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
50. Philtral Dermofascial Flap Reconstruction of Whistle Deformity.
- Author
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Garrett, Harrison C., Boorer, Catherine J., and Ho, Kevin
- Subjects
MEDICAL technology ,DIGITAL diagnostic imaging ,RHINOPLASTY ,SURGICAL flaps ,LIP diseases ,CONVALESCENCE ,INFORMED consent (Medical law) ,CLEFT lip ,PLASTIC surgery ,CRANIOFACIAL abnormalities ,PATIENT satisfaction ,PHOTOGRAMMETRY ,LIPS - Abstract
The aim of this paper is to describe a technique that can be utilised for the targeted correction of the Whistle Deformity and accompanying upper lip subunits. All patients were post-primary cleft lip repair, either unilateral or bilateral cleft lips, with a resulting Whistle Deformity post-operatively. They all elected to undergo surgical correction of the Whistle Deformity using bilateral philtral dermofascial flaps to correct their Whistle Deformity. Post-operative clinical photographs demonstrate the results of the technique. We assessed for the resolution of the Whistle Deformity and improvement of the appearance of the upper lip subunits, including; philtral, columella, and nostril sill elements. The patients treated with this technique, with Whistle Deformities following unilateral and bilateral cleft lip repair, had satisfactory results from the procedure and recovered with no complications. We propose this is an effective method for treating up to moderate-severe Whistle deformities following both unilateral and bilateral primary cleft lip repairs. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
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