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1.
J Craniofac Surg ; 2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38771209

RESUMEN

Submucous cleft palate (SMCP) is a common congenital anomaly characterized by a diastasis of the levator veli palitini muscle. The subtlety of SMCP on physical examination can contribute to diagnostic delays. This study aims to analyze the factors contributing to delays in care and subsequent postoperative outcomes in patients with SMCP. All patients with surgical indications for SMCP who underwent palatoplasty at an urban academic children's hospital were included. Patient socioeconomic characteristics, medical history, and postoperative outcomes were collected. Patients were compared based on insurance type and government assistance utilization. Statistical analyses including independent t-test, Wilcoxon ranked sum test, χ2 analyses, Fisher's exact test, and stepwise logistic regression were performed. Among the 105 patients with SMCP, 69.5% (n=73) had public insurance and 30.5% (n=32) private. Patients with public insurance were diagnosed later (5.5±4.6 versus 2.6±2.4 years old; p<0.001) and underwent palatoplasty later (7.3±4.1 versus 4.4±3.4 years old; p<0.001) than those with private insurance. Patients receiving government assistance experienced higher rates of post-surgical persistent velopharyngeal insufficiency (74.5% versus 44.8%; p=0.006). The authors' results suggest a disparity in the recognition and treatment of surgical SMCP. Hence, financially vulnerable populations may experience an increased risk of inferior speech outcomes and subsequent therapies and procedures.

2.
Plast Reconstr Surg ; 2024 Apr 29.
Artículo en Inglés | MEDLINE | ID: mdl-38684030

RESUMEN

BACKGROUND: Alveolar bone grafting (ABG) using iliac crest bone graft (ICBG) is best practice for children with complete cleft lip and palate. With the advent of recombinant human bone morphogenetic protein (rhBMP-2) and demineralized bone matrix (DBM), excellent results can still be achieved while avoiding donor-site morbidity. This study aims to determine the critical-sized defects by analyzing graft failure rates for ICBG and rhBMP-2/DBM to guide surgeons performing ABG. METHODS: A retrospective review was conducted evaluating patients who underwent ABG from 2016-2022. Patients with preoperative and postoperative cone beam computed tomography (CBCT) imaging were included. Volumetric defect sizes were calculated using preoperative imaging. Graft success criteria were based on both clinical and radiographic outcomes. Logistic regressions analyzed graft failure rates to identify an optimal cutoff, which defined the critical-sized defect. RESULTS: Ninety-three patients were included. Bone graft cohorts included ICBG (n=30) and rhBMP-2/DBM (n=63). The critical-sized defects were calculated to be 810 mm 3 and 885 mm 3 for ICBG and rhBMP-2/DBM, respectively. There were significantly higher graft failure rates beyond the critical size compared to below for both ICBG (71.4% vs. 0.0%; p<0.001) and rhBMP-2/DBM (65.0% vs. 14.0%; p<0.001). CONCLUSION: This study identified critical-sized defects based on alveolar cleft volume for ICBG or rhBMP-2/DBM with higher graft failure rates beyond the predicted thresholds. Distinct ranges in cleft volume were identified where patients might benefit from each select graft option.

3.
Cleft Palate Craniofac J ; : 10556656241239203, 2024 Mar 17.
Artículo en Inglés | MEDLINE | ID: mdl-38494189

RESUMEN

OBJECTIVE: This study aims to compare patients' speech correcting surgery and fistula rates between the Furlow and Straight Line (SLR) palatoplasty techniques when combined with greater palatine flaps for complete bilateral cleft lip and palate (BCLP) repair. DESIGN: This was a single-center IRB approved retrospective cohort study. SETTING: This study took place at an urban tertiary academic center. PATIENTS, PARTICIPANTS: All patients with BCLP anomalies that underwent repair between January 2003 and August 2022 were included. Patients with index operations at an outside institution or incomplete medical charting were excluded. INTERVENTIONS: A total of 1552 patients underwent palatoplasty during the study period. Of these, 192 (12.4%) met inclusion criteria with a diagnosis of BCLP. MAIN OUTCOME MEASURES: Primary outcomes of this study included rate of fistula and incidence of speech correcting surgery. Secondary outcomes included rate of surgical fistula repair. RESULTS: One hundred patients underwent SLR (52.1%) and 92 Furlow repair (47.9%). There was no significant difference in fistula rates between the SLR and Furlow repair cohorts (20.7% vs. 15.0%; p = 0.403). However, SLR was associated with lower rates of speech correcting surgery when compared to the Furlow repair (12.5% vs. 29.6%; p = 0.011). CONCLUSIONS: This study compares the effect of Furlow and SLR on speech outcomes and fistula rates in patients with BCLP. Our findings suggest that SLR resulted in an almost three times lower rate of velopharyngeal dysfunction requiring surgical intervention in patients with BCLP, while fistula rates remained similar.

4.
Ann Plast Surg ; 92(2): 194-197, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-38198627

RESUMEN

BACKGROUND: Cleft lip (CL) is one of the most common congenital anomalies and has traditionally been repaired surgically when the patient is between 3 and 6 months of age. However, recent single-institutional studies have demonstrated the efficacy and safety of early CL repairs (ECLRs) during the neonatal period. This study seeks to evaluate the outcomes of ECLR (repair <1 month) versus traditional lip repair (TLR) by comparing outcomes on a national scale. METHODS: The American College of Surgeons National Surgical Quality Improvement Program Pediatric Date File was used to query patients who underwent CL repairs between 2012 and 2022. The main outcome measures were anesthesia times and perioperative complications. The main predictive variable was operative group (ECLR vs TLR). Patients were considered to be in the ECLR cohort if they were younger than 30 days after birth at the time of cleft repair. Student t test and χ2 analyses were used to evaluate categorical and continuous differences, respectively. Multiple logistic regression was performed to model the association of ECLR versus TLR with death within 30 days, overall complication rates, dehiscence rates, readmission within 30 days, and reoperation rates while controlling for various covariates. RESULTS: Multiple linear regression determined that the ECLR cohort had significantly shorter operative times when controlling for operative complications, sex, cardiac risk factors, and American Society of Anesthesiologists class (coefficient = -34.4; confidence interval, -47.8 to -20.9; P < 0.001). Similarly, multiple linear regression demonstrated ECLR patients to have significantly shorter time of exposure to anesthesia (coefficient = -35.0; 95% confidence interval, -50.3 to -19.7; P < 0.001). Multiple logistic regression demonstrated that ECLR was not significantly associated with an increased likelihood of any postoperative complication when controlling for sex, cardiac risk factors, and American Society of Anesthesiologists class (P = 0.26). CONCLUSIONS: The findings of this study provide nationwide evidence that ECLR does not lead to an increased risk of adverse outcomes or complications. In addition, ECLR patients have shorter surgeries and shorter exposure to anesthesia compared with TLR. The results provide further evidence that ECLR can be done safely where earlier intervention may result in better feeding/weight gain and subsequently improve cleft care. However, longer-term studies are warranted to further elucidate the effects of this protocol.


Asunto(s)
Anestesia , Labio Leporino , Recién Nacido , Humanos , Niño , Labio Leporino/cirugía , Modelos Lineales , Tempo Operativo , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología
5.
Medicina (Kaunas) ; 59(10)2023 Sep 28.
Artículo en Inglés | MEDLINE | ID: mdl-37893459

RESUMEN

Background and Objectives: The traditional approach in managing wide cleft lip deformities involves presurgical nasoalveolar molding (NAM) therapy followed by surgical cleft lip repair between three and six months of age. This institution has implemented an early cleft lip repair (ECLR) protocol where infants undergo primary cleft lip repair between two and five weeks of age without NAM. This study aims to present this institution's ECLR repair protocol over the past eight years from 188 consecutive patients with unilateral or bilateral CL/P deformity. Materials and Methods: Retrospective review was conducted at Children's Hospital Los Angeles evaluating patients who underwent ECLR before three months of age and were classified as American Society of Anesthesiologists (ASA) class I or II from 2015-2022. Anthropometric analysis was performed, and pre- and postoperative photographs were evaluated to assess nasal and lip symmetry. Results: The average age at cleft lip repair after correcting for gestational age was 1.0 ± 0.5 months. Mean operative and anesthetic times were 120.3 ± 33.0 min and 189.4 ± 35.4, respectively. Only 2.1% (4/188) of patients had postoperative complications. Lip revision rates were 11.4% (20/175) and 15.4% (2/13) for unilateral and bilateral repairs, respectively, most of which were minor in severity (16/22, 72.7%). Postoperative anthropometric measurements demonstrated significant improvements in nasal and lip symmetry (p < 0.001). Conclusions: This analysis demonstrates the safety and efficacy of ECLR in correcting all unilateral cleft lip and nasal deformities of patients who were ASA classes I or II. At this institution, ECLR has minimized the need for NAM, which is now reserved for patients with bilateral cleft lip, late presentation, or comorbidities that preclude them from early repair. ECLR serves as a valuable option for patients with a wide range of cleft severity while reducing the burden of care.


Asunto(s)
Labio Leporino , Fisura del Paladar , Lactante , Niño , Humanos , Recién Nacido , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Nariz/cirugía , Estudios Retrospectivos , Cuidados Preoperatorios/métodos , Resultado del Tratamiento
6.
Plast Reconstr Surg Glob Open ; 11(9): e5256, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37691703

RESUMEN

Background: The need to address inequities in global surgical care has garnered increased attention since 2015, after the Lancet Commission on Global Surgery underscored the importance of ensuring safe, accessible, affordable, and timely surgical and anesthetic care. The vast unmet global plastic surgery needs make plastic surgery care essential in reducing the global burden of disease. In the past, many nonprofit organizations undertook humanitarian activities within low- and middle-income countries that were primarily service-provision oriented. The Lancet Commission on Global Surgery report prompted a shift in focus from direct patient care models to sustainable global surgical models. The realization that 33% of deaths worldwide were due to unmet surgical needs led to a global shift of strategy toward the development of local systems, surgical capacity, and a focus on patient safety and quality of care within international global surgery partnerships. Methods: In this report, the authors explore some of the primary components of sustainable international global surgical partnerships discussed in a recent panel at the American Society of Plastic Surgeons Plastic Surgery The Meeting 2022, titled "Safety and Sustainability Overseas: Optimizing Outcomes and Changing Paradigms in Global Health Endeavors." A literature review elaborating the topics discussed was performed. Results: This report focuses on cultural competence and humility, international collaboration, and the use of technology and innovation, all of which are needed to promote sustainability and patient safety, within global surgery efforts. Conclusions: The adoption of these components into international surgical collaborations will lead to greatly enhancing the development and sustainability of mutually beneficial relationships.

7.
J Craniofac Surg ; 34(6): 1644-1649, 2023 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-37646567

RESUMEN

Cleft palate is among the most common congenital disorders worldwide and is correctable through surgical intervention. Sub-optimal surgical results may cause velopharyngeal insufficiency (VPI). When symptomatic, VPI can cause hypernasal or unintelligible speech. The postoperative risk of VPI varies significantly in the literature but may be attributed to differences in study size, cleft type, surgical technique, and operative age. To identify the potential impact of these factors, a systematic review was conducted to examine the risk of VPI after primary palatoplasty, accounting for operative age and surgical technique. A search of PubMed, Embase, and Web of Science was completed for original studies that examined speech outcomes after primary palatoplasty. The search identified 4740 original articles and included 35 studies that reported mean age at palatoplasty and VPI-related outcomes. The studies included 10,795 patients with a weighted mean operative age of 15.7 months (range: 3.1-182.9 mo), and 20% (n=2186) had signs of postoperative VPI. Because of the heterogeneity in reporting of surgical technique across studies, small sample sizes, and a lack of statistical power, an analysis of the VPI risk per procedure type and timing was not possible. A lack of data and variable consensus limits our understanding of optimal timing and techniques to reduce VPI occurrence. This paper presents a call-to-action to generate: (1) high-quality research from thoughtfully designed studies; (2) greater global representation; and (3) global consensus informed by high-quality data, to make recommendations on optimal technique and timing for primary palatoplasty to reduce VPI.


Asunto(s)
Fisura del Paladar , Procedimientos de Cirugía Plástica , Insuficiencia Velofaríngea , Humanos , Fisura del Paladar/cirugía , Incidencia , Insuficiencia Velofaríngea/epidemiología , Insuficiencia Velofaríngea/cirugía , Consenso
8.
J Pediatr Surg ; 58(7): 1342-1348, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36801073

RESUMEN

BACKGROUND: Humanitarian surgical organizations such as Operation Smile provide global health opportunities for students and medical trainees. Prior studies have shown a positive benefit for medical trainees. This study aimed to determine if the international global health experiences of young student volunteers impact their career choices as adults. METHODS: A survey was sent to adults who were involved with Operation Smile as students. The survey elicited information about their mission trip experience, education, career, and current volunteer and leadership activities. Data were summarized with descriptive statistics and qualitative analysis. RESULTS: 114 prior volunteers responded. The majority participated in leadership conferences (n = 110), mission trips (n = 109), and student clubs (n = 101) while in high school. Many graduated from college (n = 113, 99%) and completed post-graduate degrees (n = 47, 41%). The most highly represented occupational industry was healthcare (n = 30, 26%), including physicians and medical trainees (n = 9), dentists (n = 5), and other healthcare providers (n = 5). Three-fourths reported that their volunteer experience impacted their career choice, and half reported that their experience allowed them to connect with career mentors. Their experience was associated with the development of leadership skills, including public speaking, self-confidence, and empathy, and increased awareness of cleft conditions, health disparities, and other cultures. Ninety-six percent continued to volunteer. Narrative responses revealed that the volunteer experiences impacted their inter- and intrapersonal development into adulthood. CONCLUSIONS: Participation in a global health organization as a student may encourage a long-term commitment to leadership and volunteerism and foster interest in a healthcare career. These opportunities also encourage development of cultural competency and interpersonal skills. LEVEL OF EVIDENCE: III, Cross-Sectional Study.


Asunto(s)
Salud Global , Estudiantes , Adulto , Humanos , Estudios Transversales , Voluntarios
9.
Cleft Palate Craniofac J ; 60(4): 430-445, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-35044261

RESUMEN

OBJECTIVE: To understand the indication for and the effects of early ventilation tube insertion (VTI) on hearing and speech for patients with cleft lip and/or palate (CLP). DESIGN: We conducted a Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)-guided systematic review of relevant literature. SETTING: Setting varied by geographical location and level of clinical care across studies. PATIENTS, PARTICIPANTS: Patients with CLP who underwent VTI were included. INTERVENTIONS: No interventions were performed. MAIN OUTCOME MEASURE(S): Primary outcome measures were hearing and speech following VTI. Secondary outcome measures were tube-related and middle ear complications. Early VTI occurred before or at time of palatoplasty while late VTI occurred after palatoplasty. RESULTS: Twenty-three articles met inclusion criteria. Articles varied among study design, outcome measures, sample size, follow-up, and quality. Few studies demonstrated support for early VTI. Many studies reported no difference in hearing or speech between early and late VTI. Others reported worse outcomes, greater likelihood of complications, or needing repeat VTI following early tympanostomy placement. Several studies had significant limitations, including confounding variables, small sample size, or not reporting on our primary outcome. CONCLUSIONS: No consistency was found regarding which patients would benefit most from early VTI. Given the aforementioned variability and sub-optimal methodologies, additional studies are warranted to provide stronger evidence regarding VTI timing in cleft care.


Asunto(s)
Labio Leporino , Fisura del Paladar , Implantes Dentales , Otitis Media con Derrame , Humanos , Lactante , Fisura del Paladar/complicaciones , Labio Leporino/complicaciones , Otitis Media con Derrame/etiología , Ventilación del Oído Medio/efectos adversos , Estudios Retrospectivos
10.
Cleft Palate Craniofac J ; : 10556656221130166, 2022 Nov 29.
Artículo en Inglés | MEDLINE | ID: mdl-36448087

RESUMEN

OBJECTIVE: The aim of this study is to evaluate surgical outcomes and maxillofacial growth in patients undergoing primary lip repair with or without premaxillary setback. DESIGN: Retrospective review. SETTING: Children's Hospital of Los Angeles, California. PATIENTS AND PARTICIPANTS: Patients with bilateral cleft lip ± palate (BCLP) who underwent lip repair with or without premaxillary setback from January 1975 to September 2021. INTERVENTIONS: No intervention was performed. MAIN OUTCOME MEASURE(S): Patient demographics, comorbidities, and syndromic status were obtained. Indications for premaxillary setback, incidence of midface hypoplasia, orthodontic and/or orthognathic treatments, follow-up, complications, and revisions were recorded and analyzed. Comparisons among long-term outcomes, particularly the development of midface hypoplasia were made between groups. RESULTS: Thirty-one patients who underwent BCLP repair with premaxillary setback (BCLP + PS) and 31 matched control patients who underwent BCLP repair without premaxillary setback (BCLP - PS) were included. Among the 2 groups, multiple logistic regression demonstrated that when controlling for comorbidities, syndromic status, timing of lip repair, and timing of palate repair, premaxillary setback was neither significantly associated with the development of midface hypoplasia (P = .076) nor the timing of midface hypoplasia development (P = .940) in those that ultimately acquired this facial dysmorphology. CONCLUSIONS: While a high incidence of midface hypoplasia was seen in both BCLP ± PS and BCLP - PS, our findings demonstrate no difference in midface hypoplasia irrespective of premaxillary setback in the setting of BCLP. Future prospective studies investigating the downstream ramifications of our suggested selection criteria for premaxillary setback are warranted.

11.
Plast Reconstr Surg ; 150(5): 1073-1080, 2022 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-35998144

RESUMEN

BACKGROUND: Cleft lip and/or palate affects approximately one in 700 live births. Optimal timing for repair of cleft lip has yet to be objectively validated. Earlier repair takes advantage of a high degree of plasticity within the nasal cartilage and maxilla. The authors present patients enrolled in an early cleft lip repair protocol facilitating effective repair of the cleft lip and nostril. METHODS: American Society of Anesthesiologists class I to II patients with unilateral cleft lip and/or palate undergoing repair before 3 months of age were enrolled over 5 years. Perioperative data, surgical and anesthetic complications, preoperative and postoperative nostril breadth, nostril width, nasal angle, lip length, frontal nasal breadth, and commissure length measured as ratios between the cleft and noncleft sides were abstracted. Early cleft lip repair and nasoalveolar molding patients were matched for cleft lip severity using the cleft width ratios and compared. RESULTS: The surgical and anesthetic complication rate for 100 early cleft lip repair patients was 2 percent. Operative and anesthetic times were 123 ± 37 minutes and 177 ± 34 minutes, respectively. Hospital length of stay was 1 ± 0 day. Age at repair between early cleft lip repair and nasoalveolar molding was 33 ± 15 days and 118 ± 33 days, respectively. After early cleft lip repair, preoperative to postoperative distance from symmetry for all anthropomorphic measurements improved ( p < 0.001). Comparing severity-matched early cleft lip repair to nasoalveolar molding patients, similar improvements were observed, suggesting equivalent results ( p > 0.05). CONCLUSION: Early cleft lip repair provides an efficacious method for correcting the cleft lip and nasal deformity that simulates nasoalveolar molding. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Asunto(s)
Labio Leporino , Fisura del Paladar , Humanos , Lactante , Preescolar , Recién Nacido , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Nariz/cirugía , Modelado Nasoalveolar , Maxilar , Resultado del Tratamiento
12.
J Oral Maxillofac Surg ; 80(9): 1486-1492, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35772512

RESUMEN

PURPOSE: Upper airway obstruction seen in Robin Sequence (RS) is commonly treated with mandibular distraction osteogenesis (MDO). The purpose of this study is to evaluate the impact of distraction distance on sleep study outcomes in patients with obstructive sleep apnea (OSA) secondary to RS. METHODS: A retrospective cohort study was conducted for patients with isolated RS who underwent MDO at Children's Hospital Los Angeles between January 2006-September 2021. The predictor variable was distraction distance (maximal distraction using a 30 mm device vs sub-maximal distraction), and the primary outcome variable was OSA scores. Relationships between covariates, including demographic characteristics, preoperative sleep variables, and postoperative OSA outcomes using polysomnography, were also analyzed. Descriptive statistics and tests of statistical significance were performed using the Statistical Package for Social Sciences (SPSS) (version 28.0), including Student's t-test, proportions testing, multiple linear regression, and correlation analysis. RESULTS: Seventy-one patients met inclusion criteria (39.4% female, 60.6% male). Average age at MDO was 3.0 ± 10.2 months. Fifty-six patients were distracted maximally with a 30 mm distractor, while the remaining 15 patients experienced shorter distraction due to distractor limitations (25 mm distractor), persistent infection or family request. Looking at absolute values of postoperative sleep study variables, there were no significant differences between patients who were maximally and sub-maximally distracted across apnea-hypopnea index (AHI), highest carbon dioxide, lowest oxygen saturation, and oxygen requirement. However, both cohorts demonstrated significant improvements in lowest oxygen saturation, AHI, highest carbon dioxide level, and highest oxygen requirement compared to their pre-distraction levels. Compared with patients distracted <30 mm, maximal distraction had a significantly greater improvement in AHI when controlling for preoperative sleep study variables (P = .047). CONCLUSION: Patients with isolated RS who have more severe OSA experienced greater improvements in AHI, oxygen requirement, and oxygen saturation after MDO. Two-thirds of patients no longer had oxygen requirements after MDO. Our results suggest that MDO is helpful in treating patients with RS regardless of distraction distance. However, our study provides evidence that increasing the distraction distance may further improve AHI, which is particularly beneficial to patients with a significant preoperative AHI.


Asunto(s)
Osteogénesis por Distracción , Síndrome de Pierre Robin , Síndromes de la Apnea del Sueño , Apnea Obstructiva del Sueño , Dióxido de Carbono , Niño , Femenino , Humanos , Lactante , Masculino , Mandíbula/cirugía , Osteogénesis por Distracción/métodos , Oxígeno , Síndrome de Pierre Robin/complicaciones , Síndrome de Pierre Robin/cirugía , Estudios Retrospectivos , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/cirugía , Resultado del Tratamiento
13.
Plast Reconstr Surg Glob Open ; 10(3): e4019, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35492233

RESUMEN

Orofacial clefting is a common reconstructive surgical condition that often involves the palate. Cleft palate repair has evolved over three centuries from merely achieving anatomical closure to prioritizing speech development and avoiding midface hypoplasia. Despite centuries of advancements, there is still substantial controversy and variable consensus on technique, timing, and sequence of cleft palate repair procedures. Furthermore, evaluating the success of various techniques is hindered by a lack of universal outcome metrics and difficulty maintaining long-term follow-up. This article presents the current controversies of cleft palate repair and details how the history of cleft palate repair has influenced current techniques commonly used worldwide. Our review highlights the need for a global consortium on cleft care to gather expert opinions on current practices and outcomes and to standardize technique classifications. An understanding of global protocols is crucial in an attempt to standardize technique and timing to achieve anatomical closure with optimal velopharyngeal competence, while also minimizing the occurrence of maxillary hypoplasia and palatal fistulae.

14.
Am J Med Genet A ; 188(7): 2082-2095, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35385219

RESUMEN

Our previous work demonstrating enrichment of outflow tract (OFT) congenital heart disease (CHD) in children with cleft lip and/or palate (CL/P) suggests derangements in common underlying developmental pathways. The current pilot study examines the underlying genetics of concomitant nonsyndromic CL/P and OFT CHD phenotype. Of 575 patients who underwent CL/P surgery at Children's Hospital Los Angeles, seven with OFT CHD, negative chromosomal microarray analysis, and no recognizable syndromic association were recruited with their parents (as available). Whole genome sequencing of blood samples paired with whole-blood-based RNA sequencing for probands was performed. A pathogenic or potentially pathogenic variant was identified in 6/7 (85.7%) probands. A total of seven candidate genes were mutated (CHD7, SMARCA4, MED12, APOB, RNF213, SETX, and JAG1). Gene ontology analysis of variants predicted involvement in binding (100%), regulation of transcription (42.9%), and helicase activity (42.9%). Four patients (57.1%) expressed gene variants (CHD7, SMARCA4, MED12, and RNF213) previously involved in the Wnt signaling pathway. Our pilot analysis of a small cohort of patients with combined CL/P and OFT CHD phenotype suggests a potentially significant prevalence of deleterious mutations. In our cohort, an overrepresentation of mutations in molecules associated with Wnt-signaling was found. These variants may represent an expanded phenotypic heterogeneity within known monogenic disease genes or provide novel evidence of shared developmental pathways. The mechanistic implications of these mutations and subsequent developmental derangements resulting in the CL/P and OFT CHD phenotype require further analysis in a larger cohort of patients.


Asunto(s)
Labio Leporino , Fisura del Paladar , Cardiopatías Congénitas , Adenosina Trifosfatasas/genética , Labio Leporino/genética , Fisura del Paladar/complicaciones , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , ADN Helicasas/genética , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Enzimas Multifuncionales/genética , Mutación , Proteínas Nucleares/genética , Proyectos Piloto , Prevalencia , ARN Helicasas/genética , Factores de Transcripción/genética , Ubiquitina-Proteína Ligasas
15.
Cleft Palate Craniofac J ; 59(12): 1452-1460, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-34658290

RESUMEN

BACKGROUND: Higher rates of postoperative complication following cleft lip or palate repair have been documented in low resource settings, but their causes remain unclear. This study sought to delineate patient, surgeon, and care environment factors in cleft complications in a low-income country. DESIGN: Prospective outcomes study. SETTING: Comprehensive Cleft Care Center. PATIENTS: Candidate patients presenting for cleft lip or palate repair or revision. INTERVENTIONS: Patient anthropometric, nutritional, environmental and peri- and post-operative care factors were collected. Post-operative evaluation occurred at standard 1-week and 2-month postoperative intervals. MAIN OUTCOME MEASURES: Complication was defined as fistula, dehiscence and/or infection. RESULTS: Among 408 patients enrolled, 380 (93%) underwent surgery, of which 208 (55%) underwent lip repair (124) or revision (84), and 178 (47%) underwent palate repair (96) or revision (82). 322 (85%) were evaluated 1 week and 166 (44%) 2 months postoperatively. 50(16%) complications were identified, including: 25(8%) fistulas, 24(7%) dehiscences, 17(5%) infections. Mid-upper arm circumference (MUAC) ≤12.5 cm was associated with dehiscence after primary lip repair (OR = 28, p = 0.02). Leukocytosis ≥11,500 on pre-operative evaluation was associated with dehiscence (OR = 2.51, p = 0.04) or palate revision fistula (OR = 64, p < 0.001). Surgeons who performed fewer previous-year palate repairs had higher likelihood of palate complications, (OR = 3.03, p = 0.01) although there was no difference in complication rate with years of surgeon experience or duration of surgery. CONCLUSIONS: Multiple patient, surgeon, and perioperative factors are associated with higher rates of complication in a low-resource setting, and are potentially modifiable to reduce complications following cleft surgery.


Asunto(s)
Labio Leporino , Fisura del Paladar , Humanos , Lactante , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Estudios Prospectivos , Nicaragua , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos
16.
PLOS Glob Public Health ; 2(3): e0000081, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36962245

RESUMEN

Low- and middle-income countries (LMICs) have the greatest need for additional healthcare providers, and women outside the workforce help address the need. Women in healthcare need more mentorship and leadership training to advance their careers due to systemic barriers. This study evaluates how women working together on a medical team influences mentorship, leadership and empowerment. A single all-female volunteer team participating in a cleft surgery mission in Oujda, Morocco were surveyed before and after the mission. Statistical analysis with student's t-test or chi-squared were performed. 95 female volunteers from 23 countries participated on this team and 85% completed surveys. Volunteers from high-income countries (32%) and LMICs (68%) had similar mission roles (p = 0.58). Experience as a mission volunteer (p = 0.47), team leader (p = 0.28), and educator (p = 0.18) were equivalent between cohorts. 73% of women had previously received mentorship but 98% wanted more. 75% had previously mentored others, but 97% wanted to be mentors. 73% of volunteers who had no prior mentorship found their first mentor during the mission. All participants found a long-term peer relationship and felt motivated to mentor women at home. 95% were inspired to pursue leadership positions, advance professionally, and continue working with other women. This population of female healthcare professionals overwhelmingly desired more mentorship than is felt to be available. An all-female healthcare environment appears to provide opportunities for mentorship and create lasting motivation to teach, lead, and advance professionally. Findings raise the potential that increasing visibility of female professionals may effectively empower women in healthcare.

17.
J Craniofac Surg ; 32(8): 2682-2686, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34727471

RESUMEN

PURPOSE: Our study introduces a novel anesthetic protocol for neonates without using volatile agents with the goal to minimize potentially neurotoxic and pro-apoptotic agents. The authors evaluated the short-term safety and efficacy of our anesthetic protocol in patients undergoing early cleft lip repair (ECLR). METHODS: A retrospective review of ECLR patients who underwent repair before 2.5 months of age within the last 4.3 years was performed. This sample was comprised of 2 groups, those who received either a standard volatile gas-based regimen or a dexmedetomidine-based neonatal anesthetic protocol (DBNAP). Patient demographics, medication dosing, anesthetic time (induction to extubation), major and minor complications, and medication side effects were compared between the 2 cohorts. RESULTS: A total of 101 patients underwent ECLR. All patients were American Society of Anesthesiologists class 1 or 2. Mean age at surgery was 31 ±â€Š13 days and mean anesthetic time was 179 ±â€Š36 minutes. DBNAP was used in 65 patients while the standard anesthetic protocol was used in 36 patients. Patient weight was significantly lower in the DBNAP group (4.01 ±â€Š0.61 versus 4.38 ±â€Š0.72 kg, P  = 0.007). There were no significant differences between the 2 cohorts when comparing anesthetic time, emergence time, complication rate, or medication side effects. CONCLUSION: For patients undergoing ECLR, DBNAP is perioperatively equivalent to the anesthetic standard of care, demonstrating no major complications and acceptable rates of minor complications and medication side effects.


Asunto(s)
Anestesia Dental , Anestésicos , Labio Leporino , Preescolar , Labio Leporino/cirugía , Humanos , Recién Nacido , Estudios Retrospectivos
18.
Plast Reconstr Surg Glob Open ; 9(10): e3870, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34703715

RESUMEN

BACKGROUND: Unilateral cleft palates have a large spectrum of variability. Key morphologic factors such as cleft width and palatal length are not represented in current classification systems. Palate length and velopharyngeal port size are clinically linked to speech outcomes, as the soft palate must close the posterior pharynx for proper phonation. This study investigates the relationship between objective preoperative measures and postoperative velopharyngeal port size, to define a reproducible severity scale. METHODS: Surgical data were prospectively collected from unilateral cleft palate patients in Morocco, Bolivia, Vietnam, and Madagascar. Key measurements were cleft width and palate width at the hard-soft palate junction, alveolar cleft width, vertical alveolar discrepancy, velopharyngeal port size. Cleft width ratio (CWR) was defined as the width of the cleft at the hard-soft junction, divided by the palate width. RESULTS: Seventy-six patients were evaluated. Thirty-one had complete clefts and average age at surgical repair was 2.9 years. Mean CWR was 0.50 ± 0.12. Palate length was increased by an average of 2.2 mm (11%) after palatoplasty. Multivariate analysis determined greater CWR and larger preoperative velopharyngeal ports were significantly correlated with a smaller percent change in palate length after palatoplasty (P < 0.01). CONCLUSIONS: A wider palatal cleft decreases the surgeon's ability to decrease velopharyngeal port size through palatoplasty. Given the ease of measurement even in low-resource settings, CWR may be a valuable tool for setting expectations for speech results, modifying surgical technique, and correlating future speech outcomes in evidence-based cleft care.

19.
World J Surg ; 45(11): 3280-3287, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34365530

RESUMEN

INTRODUCTION: Increasing numbers of women in medicine could address Morocco's 5.5-fold deficit in surgical providers. Cultural perceptions towards women limit female advancement in healthcare. This study evaluates the impact of an all-female surgical team on Moroccan attitudes. OBJECTIVE: This study aimed to evaluate how attitudes towards female healthcare professionals changed for Moroccan patients after exposure to a unique, all-female medical environment. METHODS: Cleft patients were surveyed after a surgery mission with all-female volunteers in Oujda, Morocco. Analysis included quantitative, qualitative, and mixed-methods approaches. RESULTS: Of 121 respondents (94%), 85% and 77% had prior exposure to a female nurse or doctor, respectively. 94% of respondents strongly agreed to receiving high-quality care. 75% developed increased confidence in female providers. 68% and 69% of respondents, regardless of gender (p = 0.950), felt that having a female nurse or doctor did not impact care. Female patients were more likely than male patients to strongly encourage female relatives to pursue medical careers (p = 0.027). Respondents without prior exposure to female nurses were more likely to: pursue medical careers (p = 0.034), believe female relatives could pursue medical careers (p = 0.006), and encourage them to do so (p = 0.011). CONCLUSIONS: Increased visibility of women improved patient attitudes towards female providers, especially in patients without prior exposure. Initiatives that increase female representation in healthcare may have greater effects in cultures with more gender inequity.


Asunto(s)
Personal de Salud , Calidad de la Atención de Salud , Actitud del Personal de Salud , Femenino , Humanos , Masculino
20.
Plast Reconstr Surg ; 148(1): 162-169, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-34181613

RESUMEN

BACKGROUND: Despite the wide range of cleft lip morphology, consistent scales to categorize preoperative severity do not exist. Machine learning has been used to increase accuracy and efficiency in detection and rating of multiple conditions, yet it has not been applied to cleft disease. The authors tested a machine learning approach to automatically detect and measure facial landmarks and assign severity grades using preoperative photographs. METHODS: Preoperative images were collected from 800 unilateral cleft lip patients, manually annotated for cleft-specific landmarks, and rated using a previously validated severity scale by eight expert reviewers. Five convolutional neural network models were trained for landmark detection and severity grade assignment. Mean squared error loss and Pearson correlation coefficient for cleft width ratio, nostril width ratio, and severity grade assignment were calculated. RESULTS: All five models performed well in landmark detection and severity grade assignment, with the largest and most complex model, Residual Network, performing best (mean squared error, 24.41; cleft width ratio correlation, 0.943; nostril width ratio correlation, 0.879; severity correlation, 0.892). The mobile device-compatible network, MobileNet, also showed a high degree of accuracy (mean squared error, 36.66; cleft width ratio correlation, 0.901; nostril width ratio correlation, 0.705; severity correlation, 0.860). CONCLUSIONS: Machine learning models demonstrate the ability to accurately measure facial features and assign severity grades according to validated scales. Such models hold promise for the creation of a simple, automated approach to classifying cleft lip morphology. Further potential exists for a mobile telephone-based application to provide real-time feedback to improve clinical decision making and patient counseling.


Asunto(s)
Labio Leporino/diagnóstico , Aprendizaje Profundo , Procesamiento de Imagen Asistido por Computador/métodos , Nariz/anomalías , Índice de Severidad de la Enfermedad , Puntos Anatómicos de Referencia , Reconocimiento Facial Automatizado/métodos , Labio Leporino/complicaciones , Labio Leporino/cirugía , Toma de Decisiones Clínicas , Consejo , Conjuntos de Datos como Asunto , Estudios de Factibilidad , Humanos , Aplicaciones Móviles , Nariz/diagnóstico por imagen , Nariz/cirugía , Fotograbar , Periodo Preoperatorio , Consulta Remota , Rinoplastia
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