ABSTRACT
Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant genetic malformation disorder which is best characterized by both its craniofacial and skeletal abnormalities. The purpose of this paper is to identify the various orthopedic manifestations and management in patients with TRPS. A systematic search of PubMed, Ovid MEDLINE, and Cochrane Library was conducted. They were each individually searched for primary articles yielding information on the orthopedic manifestations and management of patients with TRPS. The goals and results of each of the included studies were described. Data regarding the demographics, orthopedic condition, treatment strategy, and outcomes were extracted and analyzed. 221 unique articles were retrieved, with 13 articles being included in the study. 26 patients with TRPS were identified. Trials of conservative management were reported for 14 patients, and surgical intervention was pursued for 8 patients. The mean age for surgery was 14.1 years. The most common orthopedic manifestations of TRPS are clinodactyly, Perthes-like changes, and coxa magna. Early identification and maintenance of TRPS is important for being able to monitor musculoskeletal health of the patients in order to prevent detrimental outcomes. Additional high-quality research is required regarding the orthopedic manifestations and treatment of this patient population.
Subject(s)
Langer-Giedion Syndrome , Humans , Langer-Giedion Syndrome/genetics , Hair Diseases/surgery , Hair Diseases/therapy , Nose/abnormalities , Nose/surgery , Fingers/abnormalities , Fingers/surgery , Child , AdolescentABSTRACT
BACKGROUND: Cleft lip and palate (CLP) are among the most common congenital anomaly that affects up to 33,000 newborns in India every year. Nasoalveolar moulding (NAM) is a non-surgical treatment performed between 0 and 6 months of age to reduce the cleft and improve nasal aesthetics prior to lip surgery. The NAM treatment has been a controversial treatment option with 51% of the cleft teams in Europe, 37% of teams in the USA and 25 of cleft teams in India adopting this methodology. This treatment adds to the already existing high burden of care for these patients. Furthermore, the supporting evidence for this technique is limited with no high-quality long-term clinical trials available on the effectiveness of this treatment. METHOD: The NAMUC study is an investigator-initiated, multi-centre, single-blinded randomized controlled trial with a parallel group design. The study will compare the effectiveness of NAM treatment provided prior to lip surgery against the no-treatment control group in 274 patients with non-syndromic unilateral complete cleft lip and palate. The primary endpoint of the trial is the nasolabial aesthetics measured using the Asher McDade index at 5 years of age. The secondary outcomes include dentofacial development, speech, hearing, cost-effectiveness, quality of life, patient perception, feeding and intangible benefits. Randomization will be carried out via central online system and stratified based on cleft width, birth weight and clinical trial site. DISCUSSION: We expect the results from this study on the effectiveness of treatment with NAM appliance in the long term along with the cost-effectiveness evaluation can eliminate the dilemma and differences in clinical care across the globe. TRIAL REGISTRATION: ClinicalTrials.gov CTRI/2022/11/047426 (Clinical Trials Registry India). Registered on 18 November 2022. The first patient was recruited on 11 December 2022. CTR India does not pick up on Google search with just the trial number. The following steps have to be carried out to pick up. How to search: ( https://ctri.nic.in/Clinicaltrials/advsearch.php -use the search boxes by entering the following details: Interventional trial > November 2022 > NAMUC).
Subject(s)
Cleft Lip , Cleft Palate , Multicenter Studies as Topic , Randomized Controlled Trials as Topic , Humans , Cleft Lip/surgery , Cleft Lip/therapy , Cleft Palate/surgery , Cleft Palate/therapy , Infant , Single-Blind Method , Treatment Outcome , Infant, Newborn , India , Esthetics , Alveolar Process/surgery , Female , Male , Nose/abnormalities , Palatal ObturatorsABSTRACT
Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 2-year-old boy with Johanson-Blizzard syndrome carrying a compound heterozygous mutation of c.3167C>G (p.S1056X) and c.1911 + 14C>G(splicing) in the UBR1 gene. This iPSC line was free of exogenous gene, expressed stemness markers, exhibited differentiation potential, had normal karyotype and harbored the same mutations found in the patient. The iPSC cellline can serve as a disease model in drug development and novel personalized therapies.
Subject(s)
Anus, Imperforate , Ectodermal Dysplasia , Growth Disorders , Hearing Loss, Sensorineural , Induced Pluripotent Stem Cells , Mutation , Ubiquitin-Protein Ligases , Humans , Induced Pluripotent Stem Cells/metabolism , Male , Ubiquitin-Protein Ligases/genetics , Growth Disorders/genetics , Growth Disorders/pathology , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/pathology , Child, Preschool , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/pathology , Anus, Imperforate/genetics , Anus, Imperforate/pathology , Heterozygote , Nose/pathology , Nose/abnormalities , Cell Line , Exocrine Pancreatic Insufficiency/genetics , Exocrine Pancreatic Insufficiency/pathology , Deafness/genetics , Deafness/pathology , Cell Differentiation , Intellectual Disability/genetics , Intellectual Disability/pathology , Hypothyroidism , Pancreatic DiseasesABSTRACT
OBJECTIVE: A deviated nose is traditionally classified as bony, cartilaginous, or combined deviation. Osteotomy is commonly used to correct bony deviation, and accurate surgical techniques and postoperative patient management are important for favorable outcomes. The authors investigated the change in the external nasal deviation angle over time using sequential clinical photographs to identify the optimal postoperative follow-up duration. METHODS: Medical records and sequential standardized clinical photographs of 22 patients who underwent bilateral medial and lateral osteotomies without dorsal augmentation from January 1, 2014 to May 31, 2021, were retrospectively reviewed. Clinical photographs were classified into 4 periods: "a" preoperative, "b" postoperative day (POD) ≤3 weeks, "c" POD ≤9 weeks, and "d" POD >9 weeks. The angle of deviation (AoD) was measured in both frontal and chin-on-chest views for each period. Differences in AoD between temporally adjacent periods were analyzed. RESULTS: Nineteen men and 3 women (mean age: 28.8 y) were included. Thirteen patients showed rightward deviation, whereas 9 showed leftward deviation. Eleven patients underwent surgery through an endonasal approach, whereas the other 11 underwent surgery through an external approach. In the frontal view, AoD differences (mean ± SD) between periods "a" and "b," "b" and "c," and "c" and "d" were 5.79 ± 3.36 degrees (P < 0.001), 1.44 ± 1.14 degrees (P < 0.001), and 1.07 ± 1.24 degrees (P < 0.05), respectively. In the chin-on-chest view, the values were 5.17 ± 2.69 degrees (P < 0.001), 2.06 ± 2.63 degrees (P < 0.001), and 1.46 ± 1.31 degrees (P < 0.001), respectively. No statistically significant difference in AoD differences was observed between the two approaches. CONCLUSIONS: Angle of deviation can change even 9 weeks after bilateral osteotomy. Thus, long-term follow-up using sequential clinical photographs is mandatory. If needed, close follow-up with early postoperative interventions may be required. The chin-on-chest view showed better sensitivity for assessing AoD than the frontal view.
Subject(s)
Osteotomy , Photography , Rhinoplasty , Humans , Male , Female , Adult , Osteotomy/methods , Retrospective Studies , Rhinoplasty/methods , Nose Deformities, Acquired/surgery , Nose/abnormalities , Nose/surgery , Treatment Outcome , AdolescentABSTRACT
BACKGROUND: Reconstruction of nasal defects is a challenging task due to the complex nasal geometry and the need for aesthetic considerations. The bilobe flap has emerged as a reliable technique for nasal reconstruction, particularly for defects involving the nasal tip, alae, and inferior dorsum. OBJECTIVE: This study presents a review of 31 patients who underwent bilobe flap reconstruction for nasal defects after tumor resection. MATERIALS AND METHODS: The surgical technique, short- and long-term aesthetic outcomes, patient satisfaction, and complications were evaluated. Aesthetic outcomes were assessed using a qualitative ordinal scale, and long-term patient satisfaction was obtained through follow-up notes and phone interviews. RESULTS: Bilobe flap reconstruction yielded good aesthetic outcomes in the majority of cases, with high patient satisfaction. Complications were minimal, and revision surgeries were performed in a small number of cases to address aesthetic concerns. CONCLUSION: Overall, the bilobe flap technique proved to be an effective and reliable option for nasal reconstruction, providing stable and long-lasting results.
Subject(s)
Nose Neoplasms , Patient Satisfaction , Rhinoplasty , Surgical Flaps , Humans , Retrospective Studies , Rhinoplasty/methods , Female , Male , Middle Aged , Follow-Up Studies , Aged , Nose Neoplasms/surgery , Adult , Esthetics , Aged, 80 and over , Nose/surgery , Nose/abnormalities , Time FactorsABSTRACT
BACKGROUND: Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation. CASE PRESENTATION: In this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS. CONCLUSION: This report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.
Subject(s)
Choanal Atresia , Chromosomal Proteins, Non-Histone , Microphthalmos , Humans , Microphthalmos/genetics , Female , Chromosomal Proteins, Non-Histone/genetics , Choanal Atresia/genetics , China , Asian People/genetics , Nose/abnormalities , Exome Sequencing , East Asian PeopleABSTRACT
Meier-Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic variants of cellular factors involved in the initiation of DNA replication. We previously reported that biallelic variants in GINS3 leading to amino acid changes at position 24 (p.Asp24) cause MGORS. Here, we describe the phenotype of a new individual homozygous for the Asp24Asn variant. We also report the clinical characteristics of an individual harboring a novel homozygous GINS3 variant (Ile25Phe) and features suggestive of MGORS. Modification of the corresponding residue in yeast Psf3 (Val9Phe) compromised S phase progression compared to a humanized Psf3 Val9Ile variant. Expression of Psf3 Val9Phe in yeast also caused sensitivity to elevated temperature and the replicative stress-inducing drug hydroxyurea, confirming partial loss of function of this variant in vivo and allowing us to upgrade the classification of this variant. Taken together, these data validate the critical importance of the GINS DNA replication complex in the molecular etiology of MGORS.
Subject(s)
Congenital Microtia , Growth Disorders , Patella , Child , Female , Humans , Male , Chromosomal Proteins, Non-Histone/genetics , Congenital Microtia/genetics , DNA Replication/genetics , Growth Disorders/genetics , Growth Disorders/pathology , Homozygote , Joint Instability/genetics , Joint Instability/pathology , Micrognathism/genetics , Mutation , Nose/abnormalities , Nose/pathology , Patella/abnormalities , Patella/pathology , Phenotype , Saccharomyces cerevisiae/geneticsABSTRACT
A girl in her middle childhood presented to the outpatient department (OPD) with a congenital melanocytic naevi (CMN) of the right nasal alar lobule. Her parents had aesthetic concerns and expressed their desire to get the lesion removed. The full-thickness excision of CMN was performed with the reconstruction of the defect using the nasolabial and dorsal nasal advancement flap with conchal cartilage to shape the contour of the ala.
Subject(s)
Nevus, Pigmented , Nose Neoplasms , Skin Neoplasms , Surgical Flaps , Humans , Nevus, Pigmented/surgery , Nevus, Pigmented/congenital , Female , Nose Neoplasms/surgery , Skin Neoplasms/surgery , Child , Nose/surgery , Nose/abnormalities , Plastic Surgery Procedures/methods , Rhinoplasty/methodsABSTRACT
OBJECTIVE: Postoperative nasal stents (NSs) are used to improve esthetic outcomes after primary or secondary cleft lip repair (CLR). Prior studies have utilized anthropometric measurements or physician assessment to determine the efficacy of NS, but data on caregiver-reported outcomes is limited. This study aims to assess caregiver compliance and satisfaction with postoperative NS. METHODS: The authors designed a survey to collect parent-reported postoperative NS usage outcomes. Parents of infants with cleft lip (CL) who used postoperative NS after primary CLR were approached through social media to complete the survey. Data were analyzed to determine factors impacting compliance, satisfaction, and parent-reported outcomes. RESULTS: Eighty-five parents completed the questionnaire, and 60% reported noncompliance with NS. Parents with male children (odds ratio: 5.08, P = 0.019) and patients with incomplete CL (odds ratio: 5.72, P = 0.006) were more likely to be non-compliant with NS for over a week. Complete CL and use of presurgical molding therapy were each associated with better overall experience with postoperative NS ( P = 0.002 and P = 0.037), higher appearance ratings ( P = 0.005 and P = 0.0008), and greater satisfaction with nostril shape after surgery ( P = 0.016 and P = 0.001). CONCLUSIONS: Despite limited literature related to caregiver-reported outcomes after postoperative NS for primary CLR, the authors' results align with what has been published regarding this topic. These results can help guide surgeons in counseling patients preoperatively. Larger, multi-institutional studies are needed to better delineate and address factors associated with compliance and satisfaction after NS therapy.
Subject(s)
Cleft Lip , Patient Compliance , Patient Satisfaction , Stents , Humans , Cleft Lip/surgery , Male , Female , Infant , Surveys and Questionnaires , Parents/psychology , Nose/surgery , Nose/abnormalities , Postoperative Care , Treatment Outcome , EstheticsABSTRACT
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.2: c.1781A > G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089). Our findings further delineate the clinical spectrum linked to FBXO11 and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.
Subject(s)
F-Box Proteins , Phenotype , Humans , Male , F-Box Proteins/genetics , Intellectual Disability/genetics , Intellectual Disability/pathology , Langer-Giedion Syndrome/genetics , Langer-Giedion Syndrome/pathology , Nose/abnormalities , Nose/pathology , Fingers/abnormalities , Fingers/pathology , Child , Choanal Atresia/genetics , Choanal Atresia/pathology , Mutation , Hair Diseases , Protein-Arginine N-MethyltransferasesABSTRACT
Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused by pathogenic variants in TRPS1 and TRPS type II caused by contiguous gene deletions also spanning EXT1 and RAD21. Due to its rarity, knowledge of the clinical course of TRPS remains limited. Therefore, we collected and characterized a case series of 15 TRPS type I patients (median age at diagnosis 15 [interquartile range: 10-18] years, 11 females [73%]) seen at Aarhus University Hospital, Denmark, with a median follow-up period of 10 years. We estimated a minimum point prevalence of 0.5 in 100,000 (95% CI: 0.3-0.8 per 100,000) persons. Common craniofacial features included fine and sparse hair with a high anterior hairline, eyebrows with lateral thinning and a thicker medial part, prominent ears, a bulbous nose tip with small nasal alae, a low-hanging, and often wide columella, and a long philtrum with a thin upper vermillion. Specific skeletal features included short stature and deviating and short fingers with cone-shaped epiphyses and shortened metacarpals on radiographs. The most significant morbidity of the cohort was joint complaints, which were reported by all patients, often already before the TRPS diagnosis was established. We identified ten different TRPS1 variants including both frameshift/nonsense, missense, and splice-site variants, including seven variants not previously reported in the literature. In accordance with previous literature, no genotype-phenotype correlation was identified. The clinical trajectories were heterogeneous involving pediatrics, dermatology, orthopedic surgery, clinical genetics, and/or odontology, emphasizing that close multidisciplinary collaboration is essential for early diagnosis of TRPS and to ensure proper and timely patient care and counseling.
Subject(s)
DNA-Binding Proteins , Langer-Giedion Syndrome , Repressor Proteins , Transcription Factors , Adolescent , Child , Female , Humans , Male , DNA-Binding Proteins/genetics , Fingers/abnormalities , Hair Diseases , Langer-Giedion Syndrome/genetics , Langer-Giedion Syndrome/pathology , Nose/abnormalities , Phenotype , Repressor Proteins/genetics , Transcription Factors/geneticsABSTRACT
The innovative technique of "presurgical lip, alveolus, and nose approximation" (PLANA) offers a new approach within the domain of presurgical infant orthopedics for infants born with cleft lip and palate. Presurgical lip, alveolus, and nose approximation introduces the utilization of the NoseAlign device in conjunction with medical adhesive tapes, designed to approximate and support displaced soft tissue nasolabial structures in patients with cleft, without an intraoral plate. The NoseAlign device, constructed from medical-grade silicone, consists of 2 tubular portions that fit into the nostrils, connected by a columella band. Notably, it also features a wave-shaped and curved horizontal lip band, resting on the upper lip, with elastic clasps for secure attachment to the face with medical adhesive tapes. Presurgical lip, alveolus, and nose approximation therapy employs the NoseAlign device to support the collapsed nasal alar rim and cartilage, the displaced columella, the deviated nasal septum, and the displaced nasal alar base. This innovative approach minimizes the need for frequent office visits, making it particularly suitable for patients residing at a distance from specialized cleft centers. The prefabricated NoseAlign device offers effective support to nasal structures, making it suitable for unilateral and bilateral clefts. Importantly, the absence of an intraoral plate ensures it does not interfere with feeding. Presurgical lip, alveolus, and nose approximation therapy, initiated as early as 1 to 2 weeks, leverages the plasticity of nasal soft tissue and cartilage to achieve the desired nasal form before primary surgery. Although presurgical lip, alveolus, and nose approximation therapy does have some limitations, particularly in cases of medially collapsed alveolar segments, its simplicity, universal applicability, and patient-friendliness make it a promising technique in the presurgical infant orthopedics field.
Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Lip/surgery , Cleft Palate/surgery , Infant , Alveolar Process/abnormalities , Alveolar Process/surgery , Nose/abnormalities , Nose/surgery , Rhinoplasty/methods , Infant, Newborn , Male , Female , Preoperative CareABSTRACT
BACKGROUND: The variety of noses in the mixed Saudi population keeps rhinoplasty surgeons on their toes. The main treatment goal for drooping nose tips is the first rotation of the nasal tip superiorly. Although droopy nose is a common disease in Saudi Arabia, none of the previous studies recognized the general features of droopy nose. METHODS: A retrospective analysis of 352 patients with nasal drooping nose from 2016 to 2022. The main outcome measurements were general characteristics of nasal tip ptosis, and the most common surgical techniques used to treat nasal tip ptosis in a tertiary hospital. RESULTS: Analysis of 352 patients with droopy nose showed that 29.0% were between 25 and 29 years old, and 56.3% were female patients. The most common characteristic seen with droopy nasal tip was a significant dorsal hump in 64.8% of patients, followed by amorphous, boxy, and bulbous nasal tip in 33.5%. Significant dorsal hump and bifid tip were more common between 18 and 24. Meanwhile, amorphous, boxy, and bulbous nasal tip were more common in female individuals. The surgical techniques mostly addressed the underlying cause, which was tip grafting (83.0%), lateral osteotomy (77.3%), hump removal (66.5%), lateral crura method (61.9%), and septal extension graft (40.9%). CONCLUSIONS: The research concluded that the surgeon should be familiar with the patient's underlying cause of nasal tip ptosis and use surgical techniques accordingly. To get a pleased long-term outcome, it is often essential to repair the inferiorly rotated tip using more than one surgical approach.
Subject(s)
Nose , Rhinoplasty , Humans , Rhinoplasty/methods , Female , Retrospective Studies , Male , Adult , Saudi Arabia , Nose/abnormalities , Nose/surgery , Adolescent , Tertiary Care Centers , Middle Aged , Young Adult , Osteotomy/methods , Nose Deformities, Acquired/surgeryABSTRACT
Bosma arhinia microphthalmia syndrome (BAMS) is a rare syndrome consisting of several craniofacial abnormalities, including congenital arhinia. In this case report, the authors present the first case of a patient with BAMS and dacryocystocele who successfully underwent dacryocystectomy. Dacryocystectomy may serve as a viable surgical approach for dacryocystocele in patients with abnormal nasal anatomy. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e16-e18.].
Subject(s)
Abnormalities, Multiple , Choanal Atresia , Eye Abnormalities , Lacrimal Duct Obstruction , Microphthalmos , Nose/abnormalities , Humans , Choanal Atresia/complications , Choanal Atresia/diagnosis , Choanal Atresia/surgery , Microphthalmos/complications , Microphthalmos/diagnosis , Microphthalmos/surgeryABSTRACT
The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.
Subject(s)
Choanal Atresia , Microphthalmos , Nose/abnormalities , Humans , Chromosomal Proteins, Non-Histone/genetics , Chromosomal Proteins, Non-Histone/metabolism , Choanal Atresia/genetics , Microphthalmos/diagnosis , Microphthalmos/geneticsABSTRACT
BACKGROUND: Cleft lip nasal deformity (CLND)-associated nasal airway obstruction (CL-NAO) may be inadequately characterized, with its functional implications subsequently underappreciated and neglected. The purpose of this systematic review is to (1) summarize the available assessment results in CL-NAO, (2) evaluate the reliability of current assessment tools, and (3) identify ongoing gaps and inconsistencies for future study. METHODS: A systematic search of the MEDLINE, EMBASE, and Scopus databases was performed for articles studying CL-NAO. Articles focusing on noncleft populations or surgical techniques were excluded. Extracted data included information about study design, patient demographics, medical history, and assessment scores. RESULTS: Twenty-six articles met criteria for inclusion. Assessments included patient-reported outcome measures (PROMs), anatomic characterizations of CLND, and nasal airflow and resistance studies. Objective assessments were generally more reliable than subjective assessments in CLND. Unilateral CLND was better represented in the literature than bilateral CLND. For unilateral CLND, the cleft side was more obstructed than the noncleft side, with stereotyped patterns of anterior nasal deformity but varied middle and posterior deformity patterns. Overall, there was considerable heterogeneity in study design regarding stratification of CLND cohorts by age, cleft phenotype and laterality, and surgical history. CONCLUSIONS: A wide range of subjective and objective assessment tools were used to characterize CL-NAO, including PROMs, anatomic measurements, and airflow and resistance metrics. Overall, objective assessments of CL-NAO were more reliable than subjective surveys, which may have resulted from variable expectations regarding nasal patency in the CLND population combined with large heterogeneity in study design.
Subject(s)
Cleft Lip , Nasal Obstruction , Humans , Cleft Lip/surgery , Cleft Lip/complications , Nasal Obstruction/surgery , Nasal Obstruction/etiology , Nasal Obstruction/diagnosis , Patient Reported Outcome Measures , Rhinoplasty/methods , Nose/abnormalities , Nose/surgerySubject(s)
Nose , Humans , Nose/surgery , Nose/abnormalities , Nose/anatomy & histology , Rhinoplasty/methodsABSTRACT
BACKGROUND: Rhinoplasty enhances facial symmetry and functionality. However, the accurate and reliable quantification of nasal defects pre-surgery remains an ongoing challenge. AIM: This study introduces a novel approach for defect quantification using 2D images and artificial intelligence, providing a tool for better preoperative planning and improved surgical outcomes. MATERIALS AND METHODS: A pre-trained AI model for facial landmark detection was utilised on a dataset of 250 images of male patients aged 18 to 24 who underwent rhinoplasty for cosmetic nasal deformity correction. The analysis concentrated on 36 different distances between the facial landmarks. These distances were normalised using min-max scaling to counter image size and quality variations. Post-normalisation, statistical parameters, including mean, median, and standard deviation, were calculated to identify and quantify nasal defects. RESULTS: The methodology was tested and validated using images from different ethnicities and regions, showing promising potential as a beneficial surgical aid. The normalised data produced reliable quantifications of nasal defects (average 76.2%), aiding in preoperative planning and improving surgical outcomes and patient satisfaction. APPLICATIONS: The developed method can be extended to other facial plastic surgeries. Furthermore, it can be used to create app-based software, assist medical education, and improve patient-doctor communication. CONCLUSION: This novel method for defect quantification in rhinoplasty using AI and image processing holds significant potential in improving surgical planning, outcomes, and patient satisfaction, marking an essential step in the fusion of AI and plastic surgery.
Subject(s)
Rhinoplasty , Humans , Rhinoplasty/methods , Male , Young Adult , Adolescent , Anatomic Landmarks , Nose/abnormalities , Nose/surgery , Preoperative Care/methods , Artificial IntelligenceABSTRACT
Common genetic variants in the repressive GATA-family transcription factor (TF) TRPS1 locus are associated with breast cancer risk, and luminal breast cancer cell lines are particularly sensitive to TRPS1 knockout. We introduced an inducible degron tag into the native TRPS1 locus within a luminal breast cancer cell line to identify the direct targets of TRPS1 and determine how TRPS1 mechanistically regulates gene expression. We acutely deplete over 80 percent of TRPS1 from chromatin within 30 minutes of inducing degradation. We find that TRPS1 regulates transcription of hundreds of genes, including those related to estrogen signaling. TRPS1 directly regulates chromatin structure, which causes estrogen receptor alpha (ER) to redistribute in the genome. ER redistribution leads to both repression and activation of dozens of ER target genes. Downstream from these primary effects, TRPS1 depletion represses cell cycle-related gene sets and reduces cell doubling rate. Finally, we show that high TRPS1 activity, calculated using a gene expression signature defined by primary TRPS1-regulated genes, is associated with worse breast cancer patient prognosis. Taken together, these data suggest a model in which TRPS1 modulates the genomic distribution of ER, both activating and repressing transcription of genes related to cancer cell fitness.