Successful Management of Velopharyngeal Insufficiency in WAGR syndrome with Deletion of Chromosome 11p14.3.

Deletions in the 11p region can lead to severe outcomes, such as WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome. However, velopharyngeal insufficiency is little known, and its treatment guideline is yet to be established. Here, we present a velopharyngeal insufficiency case of a Korean patient with a 493kb deletion of chromosome 11p14.3. The patient was successfully managed with a posterior pharyngeal flap. Posterior pharyngeal flap should be considered in velopharyngeal insufficiency patients with WAGR syndrome.

Surgical correction of sunken upper eyelid with upper arcus marginalis release and precision fat distribution technique.

BACKGROUND: Sunken upper eyelids, characterized by hollowing in the upper orbital region, can contribute to an aged or fatigued appearance. We aim to report on the surgical technique and its effects, involving the release of the arcus marginalis of the upper eyelid and the precise distribution of orbital fat. METHODS: From December 2021 to March 2023, a total of 84 eyelids from 42 patients who underwent surgical correction for sunken upper eyelids, utilizing the upper arcus marginalis release and precision fat distribution technique, were included in this study. Preoperative and postoperative sunken depths were measured and statistically analyzed. Aesthetic satisfaction was assessed through patient questionnaires. RESULTS: Preoperative and postoperative sunken depths measured 9.2 ± 2.2 mm and 5.9 ± 2.3 mm, respectively. The mean improvement was 3.3 mm, a change of statistical significance. Aesthetic outcomes and patient satisfaction yielded favorable results. No major complications were observed during the follow-up period. CONCLUSION: The upper arcus marginalis release and orbital fat distribution technique demonstrated favorable outcomes in correcting sunken upper eyelids. This procedure ensures stable placement of orbital fat at the deepest sunken point, resulting in aesthetically pleasing and enduring results. This technique serves as a valuable alternative for patients with moderate to severe sunken eyelids.

Precision Pharyngeal Flap: An Individualized, Patient-Specific Surgery for the Treatment of Velopharyngeal Insufficiency.

BACKGROUND: The pharyngeal flap is one of the most common secondary surgeries for the correction of velopharyngeal insufficiency (VPI) for patients with cleft palate and/or cleft lip and palate. This study aimed to demonstrate the effectiveness of the precision pharyngeal flap surgery performed by the senior author. MATERIALS AND METHODS: Children with VPI, who underwent precision pharyngeal flap, were retrospectively examined. All surgical procedures were performed by the senior author. The flap size was individually configured based on the patients' preoperative nasopharyngoscopic analysis and speech function evaluation. Pre- and post-operative velopharyngeal functions were assessed using perceptual speech evaluation and nasometric analysis; factors affecting surgical outcomes were determined. RESULTS: Of 138 patients, 112 (women: 53, men: 59) were included in analyses, according to the inclusion and exclusion criteria. The median follow-up period was 21 months (range: 9-120). Postoperative perceptual speech evaluation revealed improved velopharyngeal function in 108 (96.4%). There were no reports of postoperative hyponasality (preoperative, 1.8% versus postoperative, 0%; P = 0.053). Other parameters of perceptual speech evaluation (hypernasality, nasal emission, articulation error, and intelligibility) showed significant improvement postoperatively (P < 0.01). Postoperative nasalance scores revealed sufficient postoperative resonance rating in 96% of patients. No patients experienced postoperative complications (bleeding, airway obstruction, and surgical wound dehiscence). CONCLUSIONS: Individually configured pharyngeal flaps designed based on preoperative nasopharyngoscopic examination coupled with precise surgical techniques led to the high surgery success rate for VPI treatment.

Polycaprolactone Mesh for Asian Rhinoplasty: Outcomes and Complications of Composite Septal Extension Graft Compared to Mesh-Only Graft.

Despite the great demand of aesthetic rhinoplasty in Asian population, it is difficult to obtain the lasting ideal tip projection along with lengthening of the nose due to the small and weak nasal septum. The shortage of available septal cartilage to work with is another major obstacle. A retrospective study was conducted between January 2017 and December 2019 in Seoul, Korea. A total of 774 patients underwent septorhinoplasty using polycaprolactone (PCL) mesh for the cosmetic enhancement of the nasal tip and the projection. Comparisons of aesthetic outcomes, patients' satisfaction surveys, and complications were performed between PCL mesh-only group and composite PCL group. Of all the patients, 97.5% of the patients in composite PCL group were rated more than 3 scores in aesthetic outcomes, whereas 90.4% in mesh-only group (p-value = 0.0002). About 96.7% of the patients with composite PCL rated their satisfaction level as more than satisfied, whereas 94.3% in mesh-only group (p-value = 0.0365). Overall, there were 17 patients in composite PCL group who exhibited complications including decreased tip projection, deviated nasal tip, mesh infection, and mesh exposure. However, there were two patients who had mesh injection in mesh-only group. Septorhinoplasty with septal extension graft using composite PCL graft provides robust support to the aesthetically modified projection and the lengthened nose without obvious complications on the nasal tip. Such technique allows surgeons to overcome the nature of Asian nose that is weak and small, and also provides satisfaction to patients who desire ideal tip projections and dramatic changes.

Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients.

OBJECTIVE: A significant number of patients with KS have cleft palate (CP) or submucous cleft palate (SMCP) and show delayed speech development. However, few reports have discussed the characteristics of CP in KS and the outcomes of postoperative speech development. The purpose of this study was to investigate the characteristics and surgical outcomes of CP in patients with KS, and to discuss the importance of the diagnosis of CP or SMCP. METHODS: We conducted a retrospective study on patients with clinically diagnosed KS who underwent palatoplasty. Clinical and surgical data were collected from patients' medical records, and velopharyngeal function was evaluated using nasopharyngoscopy and speech analysis. RESULTS: In 11 cases, 5 patients had CP (45.5%) and 6 had SMCP (54.5%). Four patients who were genetically tested had a pathogenic variant of KMT2D. Seven of nine patients (77.8%) who underwent conventional palatoplasty showed velopharyngeal insufficiency and hypernasality. All patients who underwent pharyngeal flap surgery achieved velopharyngeal competency. Statistical analysis revealed a statistically significant difference in postoperative results between non-syndromic and KS patients. CONCLUSION: Patients with SMCP may be more common than previously reported. The results showed that it is difficult to produce optimal results with conventional palatoplasty; therefore, pharyngeal flap surgery should be considered as a treatment to obtain favorable results. Pharyngeal flap surgery in patients with KS should be carefully designed based on speech evaluation and nasopharyngoscopic findings.

Silicone Implants Immobilized with Interleukin-4 Promote the M2 Polarization of Macrophages and Inhibit the Formation of Fibrous Capsules.

Breast augmentations with silicone implants can have adverse effects on tissues that, in turn, lead to capsular contracture (CC). One of the potential ways of overcoming CC is to control the implant/host interaction using immunomodulatory agents. Recently, a high ratio of anti-inflammatory (M2) macrophages to pro-inflammatory (M1) macrophages has been reported to be an effective tissue regeneration approach at the implant site. In this study, a biofunctionalized implant was coated with interleukin (IL)-4 to inhibit an adverse immune reaction and promoted tissue regeneration by promoting polarization of macrophages into the M2 pro-healing phenotype in the long term. Surface wettability, nitrogen content, and atomic force microscopy data clearly showed the successful immobilization of IL-4 on the silicone implant. Furthermore, in vitro results revealed that IL-4-coated implants were able to decrease the secretion of inflammatory cytokines (IL-6 and tumor necrosis factor-α) and induced the production of IL-10 and the upregulation of arginase-1 (mannose receptor expressed by M2 macrophage). The efficacy of this immunomodulatory implant was further demonstrated in an in vivo rat model. The animal study showed that the presence of IL-4 diminished the capsule thickness, the amount of collagen, tissue inflammation, and the infiltration of fibroblasts and myofibroblasts. These results suggest that macrophage phenotype modulation can effectively reduce inflammation and fibrous CC on a silicone implant conjugated with IL-4.

Transformation of Pathology Reports Into the Common Data Model With Oncology Module: Use Case for Colon Cancer.

BACKGROUND: Common data models (CDMs) help standardize electronic health record data and facilitate outcome analysis for observational and longitudinal research. An analysis of pathology reports is required to establish fundamental information infrastructure for data-driven colon cancer research. The Observational Medical Outcomes Partnership (OMOP) CDM is used in distributed research networks for clinical data; however, it requires conversion of free text-based pathology reports into the CDM's format. There are few use cases of representing cancer data in CDM. OBJECTIVE: In this study, we aimed to construct a CDM database of colon cancer-related pathology with natural language processing (NLP) for a research platform that can utilize both clinical and omics data. The essential text entities from the pathology reports are extracted, standardized, and converted to the OMOP CDM format in order to utilize the pathology data in cancer research. METHODS: We extracted clinical text entities, mapped them to the standard concepts in the Observational Health Data Sciences and Informatics vocabularies, and built databases and defined relations for the CDM tables. Major clinical entities were extracted through NLP on pathology reports of surgical specimens, immunohistochemical studies, and molecular studies of colon cancer patients at a tertiary general hospital in South Korea. Items were extracted from each report using regular expressions in Python. Unstructured data, such as text that does not have a pattern, were handled with expert advice by adding regular expression rules. Our own dictionary was used for normalization and standardization to deal with biomarker and gene names and other ungrammatical expressions. The extracted clinical and genetic information was mapped to the Logical Observation Identifiers Names and Codes databases and the Systematized Nomenclature of Medicine (SNOMED) standard terminologies recommended by the OMOP CDM. The database-table relationships were newly defined through SNOMED standard terminology concepts. The standardized data were inserted into the CDM tables. For evaluation, 100 reports were randomly selected and independently annotated by a medical informatics expert and a nurse. RESULTS: We examined and standardized 1848 immunohistochemical study reports, 3890 molecular study reports, and 12,352 pathology reports of surgical specimens (from 2017 to 2018). The constructed and updated database contained the following extracted colorectal entities: (1) NOTE_NLP, (2) MEASUREMENT, (3) CONDITION_OCCURRENCE, (4) SPECIMEN, and (5) FACT_RELATIONSHIP of specimen with condition and measurement. CONCLUSIONS: This study aimed to prepare CDM data for a research platform to take advantage of all omics clinical and patient data at Seoul National University Bundang Hospital for colon cancer pathology. A more sophisticated preparation of the pathology data is needed for further research on cancer genomics, and various types of text narratives are the next target for additional research on the use of data in the CDM.

Alar Base Augmentation Using Vomerine Bone Graft in Patients With Cleft Lip Nasal Deformity.

BACKGROUND: Although many trials have been made to augment the unilateral alar base depression, the ultimate aesthetic satisfaction has proven difficult to achieve. In our study, we present a novel submucosal dissection technique to harvest the vomer bone and use it as an onlay graft to correct the alar base depression. METHODS: We collected a prospective cohort study of 11 patients with unilateral cleft lip nasal deformity. Using CorelDRAW X7 software, we obtained perioperative clinical photographs to analyze the nostril and lateral lip morphometric measurements on the cleft side. Computed tomography scans were used to assess the required graft's volume and to detect resorption. We performed vomerine ostectomy and placed and fixed the bone graft in with a lag screw over the alar base depression. RESULTS: The nostril width showed a significant increase, in addition to the height/width ratio. The columellar angle with the lateral lip height increased remarkably, with a general improvement in the nasal tip aesthetics. CONCLUSIONS: The vomer bone graft has been shown to correct the lateral and inferior disorientation of the alar base and improve the nostril and nasal tip aesthetic measurements. The vomer bone is therefore a sufficient bone source for grafting with high viability and no resorption.

Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study.

BACKGROUND: To implement standardized machine-processable clinical sequencing reports in an electronic health record (EHR) system, the International Organization for Standardization Technical Specification (ISO/TS) 20428 international standard was proposed for a structured template. However, there are no standard implementation guidelines for data items from the proposed standard at the clinical site and no guidelines or references for implementing gene sequencing data results for clinical use. This is a significant challenge for implementation and application of these standards at individual sites. OBJECTIVE: This study examines the field utilization of genetic test reports by designing the Health Level 7 (HL7) Fast Healthcare Interoperability Resources (FHIR) for genomic data elements based on the ISO/TS 20428 standard published as the standard for genomic test reports. The goal of this pilot is to facilitate the reporting and viewing of genomic data for clinical applications. FHIR Genomics resources predominantly focus on transmitting or representing sequencing data, which is of less clinical value. METHODS: In this study, we describe the practical implementation of ISO/TS 20428 using HL7 FHIR Genomics implementation guidance to efficiently deliver the required genomic sequencing results to clinicians through an EHR system. RESULTS: We successfully administered a structured genomic sequencing report in a tertiary hospital in Korea based on international standards. In total, 90 FHIR resources were used. Among 41 resources for the required fields, 26 were reused and 15 were extended. For the optional fields, 28 were reused and 21 were extended. CONCLUSIONS: To share and apply genomic sequencing data in both clinical practice and translational research, it is essential to identify the applicability of the standard-based information system in a practical setting. This prototyping work shows that reporting data from clinical genomics sequencing can be effectively implemented into an EHR system using the existing ISO/TS 20428 standard and FHIR resources.

Soft tissue reconstruction in wide Tessier number 3 cleft using the straight-line advanced release technique.

Craniofacial cleft is a rare disease, and has multiple variations with a wide spectrum of severity. Among several classification systems of craniofacial clefts, the Tessier classification is the most widely used because of its simplicity and treatment-oriented approach. We report the case of a Tessier number 3 cleft with wide soft tissue and skeletal defect that resulted in direct communication among the orbital, maxillary sinus, nasal, and oral cavities. We performed soft tissue reconstruction using the straight-line advanced release technique that was devised for unilateral cleft lip repair. The extension of the lateral mucosal and medial mucosal flaps, the turn over flap from the outward turning lower eyelid, and wide dissection around the orbicularis oris muscle enabled successful soft tissue reconstruction without complications. Through this case, we have proved that the straight-line advanced release technique can be applied to severe craniofacial cleft repair as well as unilateral cleft lip repair.

Development of Comprehensive Personal Health Records Integrating Patient-Generated Health Data Directly From Samsung S-Health and Apple Health Apps: Retrospective Cross-Sectional Observational Study.

BACKGROUND: Patient-generated health data (PGHD), especially lifelog data, are important for managing chronic diseases. Additionally, personal health records (PHRs) have been considered an effective tool to engage patients more actively in the management of their chronic diseases. However, no PHRs currently integrate PGHD directly from Samsung S-Health and Apple Health apps. OBJECTIVE: The purposes of this study were (1) to demonstrate the development of an electronic medical record (EMR)-tethered PHR system (Health4U) that integrates lifelog data from Samsung S-Health and Apple Health apps and (2) to explore the factors associated with the use rate of the functions. METHODS: To upgrade conventional EMR-tethered PHRs, a task-force team (TFT) defined the functions necessary for users. After implementing a new system, we enrolled adults aged 19 years and older with prior experience of accessing Health4U in the 7-month period after November 2017, when the service was upgraded. RESULTS: Of the 17,624 users, 215 (1.22%) integrated daily steps data, 175 (0.99%) integrated weight data, 51 (0.29%) integrated blood sugar data, and 90 (0.51%) integrated blood pressure data. Overall, 61.95% (10,919/17,624) had one or more chronic diseases. For integration of daily steps data, 48.3% (104/215) of patients used the Apple Health app, 43.3% (93/215) used the S-Health app, and 8.4% (18/215) entered data manually. To retrieve medical documentation, 324 (1.84%) users downloaded PDF files and 31 (0.18%) users integrated their medical records into the Samsung S-Health app via the Consolidated-Clinical Document Architecture download function. We found a consistent increase in the odds ratios for PDF downloads among patients with a higher number of chronic diseases. The age groups of ≥60 years and ≥80 years tended to use the download function less frequently than the others. CONCLUSIONS: This is the first study to examine the factors related to integration of lifelog data from Samsung S-Health and Apple Health apps into EMR-tethered PHRs and factors related to the retrieval of medical documents from PHRs. Our findings on the lifelog data integration can be used to design PHRs as a platform to integrate lifelog data in the future.

A smartphone-based teleconsultation system for the management of chronic pressure injuries.

We investigated the accuracy of pressure injury evaluation using tele-devices and examined the concordance between automatically generated recommendations and primary manual recommendations. Caregivers took photos and videos of pressure injuries using smartphones with built-in cameras and uploaded the media to the application. The wound team evaluated the wound using a specially modified version of the Pressure Sore Status Tool. This was compared with the Pressure Sore Status Tool score assessed during the actual examination of the patient. We developed an automatic algorithm for dressing based on the Pressure Sore Status Tool score, checking for consistency between this and the primary manual recommendation. A total of 60 patients diagnosed with pressure injuries were included. The κ coefficients indicated substantial agreement for wound size and total score, and excellent for all other items. We found that the overall concordance rates were statistically significant for all items (p < 0.001). For the primary dressing, the κ coefficient for the concordance rate of automatic algorithm and manual recommendation was 0.771, while that of teleconsultation system and manual recommendation was 0.971. For the secondary dressing, the figures were 0.798 and 0.989, respectively. All values were statistically significant (p < 0.001). We presented strong evidence documenting the utilization of a smartphone, patient-driven system, and demonstrated that the measurements obtained were comparable to the ones obtained by a trained, on-site, wound team. Furthermore, we confirmed agreement between automatically generated recommendations and primary manual recommendations.

Clinical Significance of the Levator Veli Palatini Muscle in Velocardiofacial Syndrome Patients: Implications in Velopharyngeal Incompetence and Pharyngeal Flap Surgery.

BACKGROUND: Anatomical variation and deficits of velocardiofacial syndrome patients are related to unsatisfactory treatment results in surgical correction of speech abnormalities. The main purpose of the article is to investigate the clinical significance of thinned levator veli palatini muscle in VCFS patients. METHODS: The authors reviewed medical records of all children with velocardiofacial syndrome who received pharyngeal flap surgery between March 2007 and September 2015. Data including thickness of levator veli palatini in magnetic resonance examination; preoperative velopharyngeal gap size from nasoendoscopy; and preoperative and postoperative speech outcomes were collected. RESULTS: Total of 36 velocardiofacial syndrome patients with preoperative objective data and postoperative speech outcomes were identified. Preoperative velopharyngeal gap showed significant correlation with thickness of levator veli palatini (correlation coefficient: 0.297/0.397, P = .02/.03) and gap size showed correlation with postoperative speech improvement (0.347/0.413, P = .04/.02). However, muscle thickness showed no correlation with speech outcomes (0.046/0.037, P = .77/.86). CONCLUSION: Thinned levator veli palatini muscle in velocardiofacial syndrome patients are related to widened velopharyngeal gap and production of hypernasal speech, and can give negative impact on postoperative surgical outcome of pharyngeal flap surgery.

A new all-purpose bilateral cleft lip repair: Bilateral cheiloplasty suitable for most conditions.

BACKGROUND: Only experienced surgeons can produce satisfactory results with most of the current surgical methods for bilateral cleft lip repair. The existing methods require not only preoperative orthodontic maneuvers but also accurate measurements for surgical design. We describe an easy-to-design and simple-to-execute general purpose surgical technique to repair most bilateral cleft lips. METHODS: A retrospective review was performed for the patients who underwent bilateral cleft lip repair using our novel method between 2003 and 2016. The authors collected data from medical records, and the aesthetic results were judged using the aesthetic result categories by three independent surgeons; indirect anthropometry was applied to patients over 9 years of age. In addition, we investigated the complications, the reoperation rate, and the reasons for reoperation. RESULTS: Bilateral cleft lip surgery was performed in 146 cases between 2003 and 2016. Seventy-eight patients had bilateral complete cleft lips, 47 patients had bilateral incomplete cleft lips, and 21 patients had bilateral complete and incomplete cleft lips (asymmetric patients). There were no acute complications requiring re-surgery, such as wound dehiscence, hematoma, and infection. According to aesthetic classification, 74 patients (51%) were classified into category I and 72 patients (49%) into category II; no patients were classified into categories III and IV. Seventy patients (48%) underwent secondary lip operations. In anthropometry, the measurements were observed to be symmetrical; left and right measurement data were not significantly different. The main purposes of the revision were excision of widened philtral scars (42 cases) and correction of lateral vermilion bulging (28 cases). CONCLUSIONS: We have found our novel technique to be simple and capable of providing consistent, reproducible, and reliable results.

Anatomical Reconstruction of the Nasal Floor in Complete Unilateral Cleft Lip Repair.

BACKGROUND: Numerous methods exist for repairing unilateral cleft lips and mainly focus on cutaneous design to achieve sufficient rotation of the medial (M) cleft lip and produce a natural Cupid's bow and philtrum. However, precise nasal floor reconstruction has not been described in detail. This is the first study to introduce a technique for repairing complete unilateral cleft lips with a focus on nasal floor reconstruction. METHODS: In our technique, "Straight-Line Advanced Release Technique (StART)," the nasal floor is considered a 3-dimensional cuboid structure; the M mucosal and lateral (L) mucosal flaps constituted the posterior surface. The M flap became the roof of the orbicularis oris muscle sling and the posterior side of the nasal lining. The B flap met the L lip flap at the superior border of the M flap, and together they formed the roof and anterior surface. The B flap also formed a transitional zone connecting the columella and nasal floor. RESULTS: Seventy-two patients with complete unilateral cleft lip were treated from 2003 to 2015. The difference in the height of the nostril sills between the cleft and non-cleft sides was not significantly different from that in control patients (P = 0.472) 1 year postoperatively. Twenty operations for secondary deformities were performed: 8 for nose deformities not involving the nasal floor. The transverse scar at the alar base was concealed within the nostril. CONCLUSIONS: Nasal floor reconstruction is important in complete unilateral cleft lip repair. Our technique provides a naturally shaped, symmetrical nasal floor without conspicuous scarring.

The Classification and Prognosis of Periocular Complications Related to Blindness following Cosmetic Filler Injection.

Common side effects during hyaluronic acid filler injections are typically mild and reversible, but several reports of blindness have received attention. The present study focused on orbital symptoms combined with blindness, aiming to classify affected patients and predict their disease course and prognosis. From September of 2012 to August of 2015, nine patients with vision loss after filler injection were retrospectively reviewed. Ptosis, ophthalmoplegia, and enophthalmos were recorded over a 6-month follow-up, and patients were classified into four types according to periocular symptom manifestation. Two patients were categorized as type I (blindness without ptosis or ophthalmoplegia), two patients as type II (blindness and ptosis without ophthalmoplegia), two patients as type III (blindness and ophthalmoplegia without ptosis), and three patients as type IV (blindness with ptosis and ophthalmoplegia). The present study includes previously unpublished information about orbital symptom manifestations and prognosis combined with blindness caused by retinal artery occlusion after cosmetic filler injection. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.