Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Analysis of intracranial pressure waveform using a non-invasive method in individuals with craniosynostosis.

PURPOSE: Craniosynostosis can lead to symptoms resulting from cranial compliance (CC) changes and intracranial hypertension (ICH), which may cause cognitive and visual impairment. Non-invasive methods have emerged, including a new device that captures and processes the intracranial pressure waveform (ICPw) by the skull's oscillation. The present study evaluates ICPw obtained non-invasively (NIICPw) in patients with craniosynostosis. METHODS: This prospective, cross-sectional, and descriptive study was conducted at a single center. Patients diagnosed with craniosynostosis and who provided informed consent were included. A US Food and Drug Administration-approved mechanical extensometer device (Brain4Care Corp.) was used to obtain a NIICPw. An ophthalmologist did a point-of-care retinography to check the optic nerve papilla. The P2/P1 ratio and the morphology of the NIICPw were analyzed, as well as the retinography. RESULTS: Thirty-five patients were evaluated, and 42 registers were obtained because seven were assessed before and after the surgery. The two patients who presented papilledema had low CC (NIICPw shape Class 3 or 4). There was a significant association between NIICPw and papilledema. CONCLUSION: The ratio P2/P1 and the NIICPw morphology provided by a non-invasive monitor are related to CC changes before papilledema occurs. This is especially useful in patients with craniosynostosis because invasive ICP monitoring is not always feasible. Further studies are warranted to establish the clinical utility of NIICPw in patients with craniosynostosis.

Robin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.

INTRODUCTION: Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up. OBJECTIVE: Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth. METHODS: Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height. RESULTS: The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition. CONCLUSIONS: RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.

Speech Outcomes Audit for Unilateral Cleft lip and Palate After 2-Stage Palate Repair: Preliminary Results.

Primary cleft lip and palate surgeries can interfere with speech status, facial appearance, maxillary growth, and psychosocial and academic development. Therefore, different surgical protocols and techniques have been proposed, and adequate velopharyngeal function and speech is the main goal for the treatment success. The present study aimed to report preliminary speech results of the 2-stage palate repair of children with unilateral cleft lip and palate. One hundred seventy nonsyndromic patients with unilateral cleft lip and palate were included in this report, 35% males and 65% females, submitted to the 2-stage palatoplasty protocol, composed by lip, nasal ala, and hard palate repair at 3 to 6 m (stage 1) and soft palate repair at 12 to 18 m (stage 2). The target age range for speech recording was 5 to 10 years, and the speech material included repetition of Brazilian Portuguese sentences. These samples were obtained over 5 years and assessed by 3 of 14 experienced speech pathologists. When discordant, the majority rate was adopted. Average velopharyngeal dysfunction (VPD) rates were 19,5%, varying according to the soft palate technique, with better results when the Sommerlad technique was performed (VPD=11%), followed by Braithwaite (VPD=15%) and then Von Langenbeck (VPD=25%). Passive errors were observed in 32% and active errors in 25%. Speech results reflect the outcomes of an interdisciplinary team's work, where facial growth and nasolabial appearance must also be considered. Further analysis and a wider casuistic are recommended. Hence outcomes audit needs to be a permanent process, providing solid and updated evidence for optimal cleft care.

Clinical Characterization of Congenital Anophthalmic and Microphthalmic Cavities in Inidviduals With Craniofacial Anomalies.

OBJECTIVE: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). DESIGN: Descriptive, cross-sectional, retrospective study. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of congenital anophthalmia or microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. OUTCOME MEASURES: Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. RESULTS: A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients ( P < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only 7 records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. CONCLUSION: Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.

Growth Outcomes Audit for Unilateral Cleft Lip and Palate (UCLP) After 2-stage Palate Repair.

PURPOSE: To assess the impact of 1 and 2-stage palatoplasty protocol on the dental arch relationships in unilateral cleft lip and palate (UCLP) in a single center. METHODS: Our study consisted of 349 individuals divided into 2 groups according to the palatoplasty protocol. Two-stage group comprised 169 subjects with UCLP (mean age: 6.9 y, 110 male and 59 female) who underwent lip, nasal ala, and anterior palate repair with vomer flap from 3 to 6 months (first surgery stage). Soft palate repair occurred from 12 to 18 months (second surgery stage). The one-stage group comprised 180 subjects with UCLP (mean age: 7.2 y, 108 male and 72 female) who underwent 1-stage palatoplasty. Dental models were evaluated by 3 experienced orthodontists applying Goslon Yardstick and the 5-year-old index (FYOI). The influence of the palatoplasty technique and surgeon factor on the interarch relationship was evaluated. The weighted Kappa was used to assess intraexaminer and interexaminer agreements for comparisons of dental arch relationships. Intergroup comparisons were conducted using the χ 2 test ( P <0.05). RESULTS: The intraexaminer reliability was very good (0.81 to 0.98) and interexaminer reliability varied from satisfactory to very good (0.56 to 0.83). The mean occlusal index of the 2-stage and 1-stage groups was 2.77 and 3.03, respectively. The variability of the mean index between surgeons varied from 2.38 to 3.2 in the 2-stage group and 2.91 to 3.2 in the 1-stage group. There were significant differences in the frequency of Goslon 5 index ( P =0.002) between groups, with the 2-stage group presenting less cases (1.18%) than the group 1-stage (11.11%). CONCLUSION: The interarch relationship was similar for both palate repair protocols. Two-stage palatoplasty showed a decreased prevalence of Goslon index 5.

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life.

Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS). The association of OSA with excessive daytime sleepiness (EDS), respiratory symptoms, and clinical variables was also assessed. Material and Methods The subjects were prospectively screened for OSA through the Berlin Questionnaire and type I polysomnography. The Epworth Sleepiness Scale and the Respiratory Symptoms Questionnaire were used for assessing OSA-related symptoms. Quality of life was assessed by means of the Short Form 36 Health Survey. Results The sample comprised 20 adults with TCS (55.0% female), aged 22.6 ± 5.8 years. Mean values of systemic blood pressure (113.0 ± 12.6/68.0 ± 9.5mmHg), body mass index (22.9 ± 5.9kg/m 2 ), neck (34.1 ± 4.3cm), and waist circumference (80.4 ± 13.6cm) characterized the sample. A high risk for OSA was detected in 35% of the sample. Polysomnography results indicated an OSA frequency of 44.4%, with a median apnea-hypopnea index (AHI) value of 3.8 events/hour (minimum = 0.2; maximum = 77.5). Snoring (75.0%), nasal obstruction (70.0%) and EDS (20.0%) were the reported OSA-related symptoms. Quality of life median scores were 72.3 points (minimum = 45.0; maximum = 91.1). Strong positive correlations between AHI versus waist circumference and AHI versus systolic blood pressure were found. Moderate positive correlations between AHI versus body mass index and AHI versus neck circumference were detected. Negative correlation between AHI versus vitality were also observed. Conclusion Adults with TCS are at high risk for OSA, which is associated with respiratory symptoms, altered anthropometric measurements, increased systolic pressure and impairment of quality of life.

Oculoauriculofrontonasal syndrome: Refining the phenotype through a new case series and literature review.

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.

Craniofacial Microsomia: New Updates in Spinal Anomalies.

INTRODUCTION: Craniofacial microsomia (CFM) involves anomalies of the first and second pharyngeal arches, mainly of the mandible, maxilla, ears, and vertebral spine. This study aimed to identify the frequency and morphology of spinal anomalies of individuals with clinical diagnoses of CFM. In addition, the correlation between spinal anomalies and craniofacial involvement was performed. MATERIALS AND METHODS: This study was a retrospective review of individuals with a clinical diagnosis of craniofacial microsomia. The inclusion criteria were a clinical diagnosis of CFM with no overlap with any other syndromes of first and second pharyngeal arches and radiograph availability in the hospital's database. Prevalence and morphology of spinal anomalies were calculated and clinical details were recorded: types of spinal anomalies and correlations according to OMENS score. RESULTS: The sample consisted of 46 individuals with a clinical diagnosis of CFM, 24 (52,2%) female and 22 (47,8%) male (1M:1F). Twenty-one (45,7%) had unilateral craniofacial involvement and 25 (54,3%), bilateral. Twenty-eight (60,9%) individuals presented spinal anomalies. Those with unaltered spinal morphology showed a slight preference toward OMENS scores under 5: 7 patients did, only one of which had spinal alterations (14,3%); 68,8% (22) in the group with scores 5 to 9 (n=32) and 71,4% (5) in the 10 to 15 group (n=7) did as well. DISCUSSION AND CONCLUSIONS: Spinal anomalies in individuals with CFM are more common than usually reported in medical literature, mainly when associated with radial anomalies and correlate with statistical significance to facial features, mainly the OMENS score.

Evaluation of Radiographic Outcomes of Alveolar Graft Associated with Premaxillary Osteotomy Performed with rhBMP-2.

OBJECTIVE: To evaluate the influence of filling material and timing of surgery on radiograph outcomes of alveolar grafting with premaxillary osteotomy. The null hypothesis was that radiographic outcomes would be similar with both rhBMP-2 (rhBMP-2G) and cancellous bone from the iliac crest (IG), regardless of the timing of surgery. DESIGN: Cross-sectional study with consecutive sampling of 56 periapical or occlusal radiographs taken 12 months after surgery. SETTING: A single tertiary craniofacial center. PATIENTS/PARTICIPANTS: Twenty-eight patients with complete bilateral cleft lip and palate and mean age of 13 years. The individuals underwent bilateral alveolar grafting associated with premaxillary osteotomy (AG + PO) with rhBMP-2 or cancellous bone from the iliac crest. INTERVENTIONS: Experienced maxillofacial surgeons used the same surgical technique in both groups. AG + PO were assigned as success or failure by 3 blinded raters based on modified Bergland and SWAG scales. MAIN OUTCOME MEASURES: The influence of filling materials and timing of surgery on radiographic outcomes was verified by Fisher's exact test and chi-square test (P < .05). RESULTS: There was no significance variation between the mean age of participants in the rhBMP-2G and IG (P = .471). Scales showed almost perfect reliability (agreement rate = 96.4%; K = 0.85). rhBMP-2G and IG had similar success rates with modified Bergland scale (85.7% and 82.1%) and SWAG scale (92.9% and 82.1%), respectively. However, only modified Bergland scale found influence of age on radiographic outcomes (P = .025). CONCLUSIONS: AG + PO performed with rhBMP-2 and iliac crest bone showed similar radiographic success rates, regardless of the timing of surgery.

Three-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis.

Objective: Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures. This study aimed to compare intradental and interdental dimensions between individuals with Apert and Crouzon syndromes and nonsyndromic controls. Materials and Methods: Digital models were obtained from the archive of a public tertiary care hospital. The sample consisted of 34 patients (Apert n = 18, Crouzon n = 16) and 34 nonsyndromic controls matched for gender and age. Measurements of perimeter, length, intercanine and intermolar distances (upper and lower), overjet, and molar ratio were performed. Statistical comparisons were performed using ANOVA and Tukey tests (p < 0.05). Results: Patients with Apert and Crouzon syndromes have severely reduced maxillary transverse dimensions, perimeter, and length of the upper arch compared to the control group (p < 0.001). The lower arch is less impacted. Patients with Apert syndrome had an anterior crossbite (p < 0.001), while patients with Crouzon syndrome had an edge-to-edge bite (p < 0.011). Patients with Apert and Crouzon syndromes do not have serious transverse proportion problems when comparing the upper and lower arches. Conclusions: In this sample, both the Apert and Crouzon groups have severely compromised upper arches compared to the control group. Mild dentoalveolar expansion in the maxilla should be sufficient for the transverse adaptation of the dental arches before frontofacial advancement.

Craniocervical Instability in Oculoauriculovertebral Spectrum.

INTRODUCTION: The oculoauriculovertebral spectrum (OAVS) are anomalies of the first and second pharyngeal arches, causing craniofacial changes, principally facial asymmetry, as well as anomalies in the spine, that can be a cause of instability of the craniocervical junction - manipulation of an unstable spine can result in morbimortality. However, few studies have related OAVS to craniocervical instability. OBJECTIVES: Correlate patients with OAVS through radiography with craniocervical instability and prediction of its occurrence. MATERIAL AND METHODS: Through a radiographic study of the cervical spine, the assessment of vertebral malformations and the presence of craniocervical instability was performed and clinical assessment using the OMENS score as a phenotypic criteria for patients with OAVS, by a specialized multidisciplinary team. Student's t test, Kolmogorov-Smirnova, and χ 2 were performed. RESULTS: Twenty-six patients with OAVS were evaluated, 7 (26.9%) had craniocervical instability, the OMENS score was 3 times higher, but without statistical significance. All patients with instability also had spinal malformations, and of those without craniocervical instability (19 patients), 57.8% had spinal malformations. Vertebral malformations had a similar incidence in those with and without instability, the most common being scoliosis. There was no statistical significance in the presence or absence of spinal malformations with the presence or absence of craniocervical instability. Extracraniofacial findings were found in all patients with instability; 71.4% of them were radial. CONCLUSIONS: Patients with higher OMENS scores had more craniocervical instability but without statistical significance. It also did not show statistical relevance between the presence of malformations and craniocervical instability.

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.

OBJECTIVE: To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. DESIGN: The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors. STUDY SETTING: The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up. PATIENTS: The patients were selected out of the series of craniofacial deformities taken care of by the authors' department as rare clefts. MAIN OUTCOME: We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a "maxillary duplication"). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus. CONCLUSIONS: The Tessier's opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature.

Avaliação de indicadores de qualidade na gestão do centro cirúrgico de um hospital terciário / Evaluation of quality indicators in the management of an operating room at a tertiary-level hospital

Introdução: Por se tratar de um setor complexo e que compreende grande parte dos custos de um hospital, o centro cirúrgico demanda uma contínua avaliação de suas atividades, com o objetivo de propiciar uma melhora da sua eficiência e da segurança dos pacientes. Uma estratégia interessante para se realizar tal avaliação é a utilização de um conjunto de indicadores de qualidade preestabelecidos, dividindo os atributos do serviço em estrutura, processos e resultados. Para que isso seja possível, é necessário que o serviço analisado possua uma fonte de dados bem estruturada, tendo o Núcleo Interno de Regulação um papel importante nesse processo. Objetivo: Este estudo teve como objetivo a análise de índices de gestão do centro cirúrgico de um hospital terciário especializado em cirurgias eletivas através da mensuração de dados referentes a indicadores de qualidade. Metodologia: Trata-se de um estudo observacional descritivo feito de forma retrospectiva em um hospital escola público do interior do estado de São Paulo. Foram mensurados 18 indicadores referentes ao período de 01/06/2019 a 31/12/2019, a partir de consultas a diferentes setores administrativos do local. Os resultados passaram por uma análise estatística descritiva ao final da coleta de dados. Resultados: Os principais resultados encontrados foram: taxa de cumprimento da agenda cirúrgica de 95,8%, taxa de cancelamento de 4,1%, taxa de ocupação de 47,9%, turnover de 23,1 minutos, tempo médio de atraso no início das cirurgias de 32,8 minutos, tempo de permanência na sala de recuperação pós-anestésica de 37,4 minutos, taxa de absenteísmo dos profissionais de 8,94% e as taxas de infecção do sítio cirúrgico, de mortalidade operatória e de acidente de trabalho foram todas 0%. Conclusões: Apesar da alta taxa de cumprimento da agenda cirúrgica, a taxa de ocupação se encontrou aquém do ideal, sugerindo que o agendamento das cirurgias pode ser melhorado. Além disso, demonstrou-se que a estratégia de "cirurgias reservas" adotada no hospital auxilia no cumprimento da meta de cirurgias programadas e no aumento da taxa de ocupação (AU)

Introduction: As a complex sector that results in a large part of the costs in a hospital, the operating room demands a continuous evaluation of its activities, with the objective of providing an improvement in its efficiency and in patient safety. An interesting strategy to carry out such an evaluation is using a set of pre-established quality indicators, by the division of the service's attributes into structure, processes and results, which can provide a broad perspective of the activities developed and facilitate decision-making by the hospital manager. In this analysis process, it is necessary that the service has a well-structured data source, where the Internal Regulation Center plays an important role. Objective: The objective of this study was to analyze, through the measurement of data related to quality indicators, the management indexes of the operating room of a tertiary-level hospital specialized in elective surgeries. Methodology: This is a descriptive observational study that was conducted retrospectively at a public teaching hospital. In this research, 18 indicators, related to the period from 06/01/2019 to 12/31/2019, were measured based on consultations to different administrative sectors of the hospital. The results went through a descriptive statistical analysis at the end of data collection. Results:The main results found were as follows: the fulfillment rate of the surgical schedule was 95.8%, the cancellation rate was 4.1%, the occupancy rate was 47.9%, the turnover time was 23.1 minutes, the mean delay time in the start of surgeries was 32.8 minutes, length of stay in the post-anesthesia care unit was 37.4 minutes, the professionals' absenteeism rate was 8.94%, and the rates of surgical site infection, operative mortality and work accident were all 0%. Conclusions: Despite the high fulfillment rate of the surgical schedule, the occupancy rate was below the ideal, suggesting that scheduling of surgeries can be improved. In addition, it was shown that the "reserve surgeries" strategy adopted at the hospital helped to reach the goal of scheduled surgeries and to increase the occupancy rate (AU)

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

BACKGROUND: Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear. METHODS: Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software. RESULTS: Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001). CONCLUSIONS: Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma). CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Avaliação de indicadores de qualidade na gestão do centro cirúrgico de um hospital terciário / Evaluation of quality indicators in the management of an operating room at a tertiary-level hospital

RESUMO: Introdução: Por se tratar de um setor complexo e que compreende grande parte dos custos de um hospital, o centro cirúrgico demanda uma contínua avaliação de suas atividades, com o objetivo de propiciar uma melhora da sua eficiência e da segurança dos pacientes. Uma estratégia interessante para se realizar tal avaliação é a utilização de um conjunto de indicadores de qualidade preestabelecidos, dividindo os atributos do serviço em estrutura, processos e resultados. Para que isso seja possível, é necessário que o serviço analisado possua uma fonte de dados bem estruturada, tendo o Núcleo Interno de Regulação um papel importante nesse processo. Objetivo: Este estudo teve como objetivo a análise de índices de gestão do centro cirúrgico de um hospital terciário especializado em cirurgias eletivas através da mensuração de dados referentes a indicadores de qualidade. Metodologia: Trata-se de um estudo observacional descritivo feito de forma retrospectiva em um hospital escola público do interior do estado de São Paulo. Foram mensurados 18 indicadores referentes ao período de 01/06/2019 a 31/12/2019, a partir de consultas a diferentes setores administrativos do local. Os resultados passaram por uma análise estatística descritiva ao final da coleta de dados. Resultados: Os principais resultados encontrados foram: taxa de cumprimento da agenda cirúrgica de 95,8%, taxa de cancelamento de 4,1%, taxa de ocupação de 47,9%, turnover de 23,1 minutos, tempo médio de atraso no início das cirurgias de 32,8 minutos, tempo de permanência na sala de recuperação pós-anestésica de 37,4 minutos, taxa de absenteísmo dos profissionais de 8,94% e as taxas de infecção do sítio cirúrgico, de mortalidade operatória e de acidente de trabalho foram todas 0%. Conclusões: Apesar da alta taxa de cumprimento da agenda cirúrgica, a taxa de ocupação se encontrou aquém do ideal, sugerindo que o agendamento das cirurgias pode ser melhorado. Além disso, demonstrou-se que a estratégia de "cirurgias reservas" adotada no hospital auxilia no cumprimento da meta de cirurgias programadas e no aumento da taxa de ocupação. (AU)

ABSTRACT: Introduction: As a complex sector that results in a large part of the costs in a hospital, the operating room demands a continuous evaluation of its activities, with the objective of providing an improvement in its efficiency and in patient safety. An interesting strategy to carry out such an evaluation is using a set of pre-established quality indicators, by the division of the service's attributes into structure, processes and results, which can provide a broad perspective of the activities developed and facilitate decision-making by the hospital manager. In this analysis process, it is necessary that the service has a well-structured data source, where the Internal Regulation Center plays an important role. Objective: The objective of this study was to analyze, through the measurement of data related to quality indicators, the management indexes of the operating room of a tertiary-level hospital specialized in elective surgeries. Methodology: This is a descriptive observational study that was conducted retrospectively at a public teaching hospital. In this research, 18 indicators, related to the period from 06/01/2019 to 12/31/2019, were measured based on consultations to different administrative sectors of the hospital. The results went through a descriptive statistical analysis at the end of data collection. Results:The main results found were as follows: the fulfillment rate of the surgical schedule was 95.8%, the cancellation rate was 4.1%, the occupancy rate was 47.9%, the turnover time was 23.1 minutes, the mean delay time in the start of surgeries was 32.8 minutes, length of stay in the post-anesthesia care unit was 37.4 minutes, the professionals' absenteeism rate was 8.94%, and the rates of surgical site infection, operative mortality and work accident were all 0%. Conclusions: Despite the high fulfillment rate of the surgical schedule, the occupancy rate was below the ideal, suggesting that scheduling of surgeries can be improved. In addition, it was shown that the "reserve surgeries" strategy adopted at the hospital helped to reach the goal of scheduled surgeries and to increase the occupancy rate. (AU)

Tessier 3 and 4 Clefts and Choanal Atresia: An Unusual Association?

INTRODUCTION: Craniofacial clefts are rare congenital anomalies that might involve both soft tissue and skeletal components. The association of Tessier cleft number 3 and 4 with choanal atresia appears to be unusual and only few clinical cases have been reported in published literature. OBJECTIVES: Report a series of 13 cases of choanal atresia in patients with Tessier numbers 3 or 4 clefts and the literature review on this topic. METHODS: A literature review was undertaken via PUBMED database before April 2020 addressing the association between Tessier numbers 3 or 4 clefts and choanal atresia. Retrospective chart review of patients diagnosed with both comorbidities at a tertiary hospital expertised in craniofacial anomalies. RESULTS: Literature review yielded 10 studies describing the relationship between choanal atresia and Tessier 3 and 4 facial clefts. We identified 98 patients diagnosed with medial oro-ocular facial clefts (Tessier 3 and 4) and 119 with choanal atresia at our institution over a 20 years time period. Altogether, 13 individuals were diagnosed with both malformations, 3 patients with number 3 cleft, and 10 patients with number 4 cleft. It represents 13.26% of the cases. CONCLUSION: This study highlights the features of Tessier 3 and 4 facial clefts associated with choanal atresia. Although the publications regarding this association are very scarce, the authors present the largest series of cases of Tessier number 3 and 4 clefts with choanal atresia showing that association between these conditions could be not so unusual.

Three-dimensional comparison of mandibular morphology in young people with Treacher Collins syndrome and Pierre Robin sequence.

INTRODUCTION: Treacher Collins syndrome (TCS) and nonsyndromic Pierre Robin sequence (PRS) share mandibular deficiency as a similar clinical finding. This study aimed to compare the mandibular size and morphology of subjects with TCS and PRS. METHODS: Group TCS was composed of 17 subjects (7 male, 10 female) with a mean age of 11.5 years (standard deviation, 4.4) from a single center. Group PRS was composed of 17 subjects paired by age and sex with group TCS. Preorthodontic cone-beam computed tomography examinations of all patients were evaluated using Mimics Innovation Suite 17.0 (Materialise, Leuven, Belgium). Nine 3-dimensional measurements were performed in segmented 3D images of the mandible. Intragroup comparisons were performed using paired t tests. Intergroup comparisons were performed using analysis of variance and Tukey tests. The significance level considered was 5%. RESULTS: TCS showed a significant dimensional difference between less and more affected sides for ramus, condyles, and mandibular body. The mandibular dimensions in PRS were more symmetrical. Group TCS presented a smaller mandibular effective length and mandibular body length compared with PRS. The condyle width and height and the ramus width were also decreased in TCS. The gonial angle was greater in TCS compared with the PRS group. CONCLUSIONS: Young subjects with TCS presented a smaller, more vertical, and more asymmetrical mandible compared with nonsyndromic PRS.